7-134851357-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851357
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851357
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 109948
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.693A>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2144A>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.*6A>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.*6A>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.526A>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.*6A>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.*6A>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.715A>C
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: 3' UTR
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 1117
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3964
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5994
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 777
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5073
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 326
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 4.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 126
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 288
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 325
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 73
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: South Asian
population: Other
population: East Asian
population: Latino
population: African
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum

7-134851358-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851358
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851358
    reference: chr 7
allele count: 1
allele frequency: 9.086118228570391e-6
allele num: 110058
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.*5T>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.*5T>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.*5T>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2143T>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.692T>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.714T>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.*5T>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.525T>C
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 792
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4222
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1057
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5075
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 622
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3994
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4503
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6951
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2459
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 302
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2470
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4252
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1018
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
population: South Asian
reference allele: A
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum

7-134851359-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851359
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851359
    reference: chr 7
allele count: 2
allele frequency: 1.815672888372431e-5
allele num: 110152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2142A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.691A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.*4A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.*4A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.*4A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.*4A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.713A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.524A>G
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 804
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1013
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4029
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 156
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6951
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5996
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5920
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4499
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5076
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 119
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2231
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4255
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2812
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1637
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 983
  bin: 7.5e0
  variant carriers: 0
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: South Asian
reference allele: T
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ

7-134851363-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851363
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851363
    reference: chr 7
allele count: 2
allele frequency: 1.802256425044155e-5
allele num: 110972
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.520G>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.474G>C
  hgvsp: ENSP00000376823.3:p.Ter158TyrextTer64
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2138G>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.471G>C
  hgvsp: ENSP00000389941.1:p.Ter157TyrextTer64
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.309G>C
  hgvsp: ENSP00000400024.1:p.Ter103TyrextTer64
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.687G>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.309G>C
  hgvsp: ENSP00000473365.1:p.Ter103TyrextTer?
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.709G>C
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 779
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 249
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 902
  bin: 1.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4261
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5110
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 762
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1462
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4142
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 111
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ter158TyrextTer64
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
reference allele: C
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: MQ
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-134851365-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851365
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851365
    reference: chr 7
allele count: 1
allele frequency: 8.981336782166658e-6
allele num: 111342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.518T>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.685T>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: stop_lost
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.472T>G
  hgvsp: ENSP00000376823.3:p.Ter158GluextTer64
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2136T>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.469T>G
  hgvsp: ENSP00000389941.1:p.Ter157GluextTer64
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.707T>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.307T>G
  hgvsp: ENSP00000473365.1:p.Ter103GluextTer?
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: stop_lost
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.307T>G
  hgvsp: ENSP00000400024.1:p.Ter103GluextTer64
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: stop lost
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5117
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 678
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4393
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 907
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4221
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2234
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 141
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Ter158GluextTer64
num of homozygotes: 0
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: ReadPosRankSum

7-134851375-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851375
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851375
    reference: chr 7
allele count: 3
allele frequency: 2.640333738184506e-5
allele num: 113622
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.459C>T
  hgvsp: ENST00000430372.1:c.459C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.508C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.675C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.297C>T
  hgvsp: ENST00000483029.2:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.462C>T
  hgvsp: ENST00000393114.3:c.462C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.297C>T
  hgvsp: ENST00000424142.1:c.297C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.697C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2126C>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1685
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3390
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5384
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6950
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1005
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 315
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5263
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 405
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 623
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2845
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 831
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6007
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 216
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 411
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 216
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2240
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2474
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Ile154Ile
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
population: Other
population: European (Finnish)
reference allele: G
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: BaseQRankSum

7-134851379-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851379
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851379
    reference: chr 7
allele count: 1
allele frequency: 8.731946700197342e-6
allele num: 114522
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.671A>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.504A>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.455A>C
  hgvsp: ENSP00000389941.1:p.Glu152Ala
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2122A>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.693A>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.293A>C
  hgvsp: ENSP00000400024.1:p.Glu98Ala
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.293A>C
  hgvsp: ENSP00000473365.1:p.Glu98Ala
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.458A>C
  hgvsp: ENSP00000376823.3:p.Glu153Ala
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 764
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6021
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5808
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3011
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 342
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5326
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 349
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2994
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 304
  bin: 3.25e1
  variant carriers: 0
hgvs: p.Glu153Ala
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: DP

7-134851382-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851382
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851382
    reference: chr 7
allele count: 3
allele frequency: 2.599788550531224e-5
allele num: 115394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.501G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.668G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.690G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.452G>A
  hgvsp: ENSP00000389941.1:p.Arg151Gln
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.290G>A
  hgvsp: ENSP00000473365.1:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.455G>A
  hgvsp: ENSP00000376823.3:p.Arg152Gln
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.290G>A
  hgvsp: ENSP00000400024.1:p.Arg97Gln
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2119G>A
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 694
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5441
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2579
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6198
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 284
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6045
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6955
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 625
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 269
  bin: 2.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 65
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2472
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 299
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 69
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35708
  bin: 9.75e1
  variant carriers: 2
hgvs: p.Arg152Gln
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-134851383-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851383
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851383
    reference: chr 7
allele count: 2
allele frequency: 1.72607232243031e-5
allele num: 115870
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.289C>T
  hgvsp: ENSP00000400024.1:p.Arg97Trp
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.667C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.454C>T
  hgvsp: ENSP00000376823.3:p.Arg152Trp
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.289C>T
  hgvsp: ENSP00000473365.1:p.Arg97Trp
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2118C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.451C>T
  hgvsp: ENSP00000389941.1:p.Arg151Trp
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.500C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.689C>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2431
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 655
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6052
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6952
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4219
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6403
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 266
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5464
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7689
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 252
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2452
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1472
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 265
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7789
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 54
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2814
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Arg152Trp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
population: African
population: South Asian
reference allele: G
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: ClippingRankSum

7-134851386-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851386
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851386
    reference: chr 7
allele count: 2
allele frequency: 1.71505994134495e-5
allele num: 116614
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.686G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.286G>A
  hgvsp: ENSP00000400024.1:p.Val96Ile
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.451G>A
  hgvsp: ENSP00000376823.3:p.Val151Ile
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.497G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.286G>A
  hgvsp: ENSP00000473365.1:p.Val96Ile
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2115G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.448G>A
  hgvsp: ENSP00000389941.1:p.Val150Ile
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.664G>A
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2061
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1686
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6071
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 624
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 251
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6954
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7691
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4220
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5921
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 597
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 325
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6754
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5583
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1004
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2844
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 217
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2815
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35707
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 1638
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2074
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 48
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Val151Ile
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: Latino
reference allele: C
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

7-134851390-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851390
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851390
    reference: chr 7
allele count: 834
allele frequency: 7.085811384876806e-3
allele num: 117700
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.282A>G
  hgvsp: ENST00000424142.1:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.444A>G
  hgvsp: ENST00000430372.1:c.444A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.282A>G
  hgvsp: ENST00000483029.2:c.282A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.447A>G
  hgvsp: ENST00000393114.3:c.447A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.682A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.660A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.493A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2111A>G
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 7.25e1
  variant carriers: 41
genotype depth: GenotypeDepth
  all individuals: 189
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7203
  bin: 2.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 2832
  bin: 6.25e1
  variant carriers: 20
genotype depth: GenotypeDepth
  all individuals: 7171
  bin: 4.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 5993
  bin: 3.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 248
  bin: 8.75e1
  variant carriers: 33
genotype depth: GenotypeDepth
  all individuals: 5880
  bin: 5.25e1
  variant carriers: 14
genotype depth: GenotypeDepth
  all individuals: 227
  bin: 1.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 1678
  bin: 6.75e1
  variant carriers: 19
genotype depth: GenotypeDepth
  all individuals: 463
  bin: 1.25e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 686
  bin: 9.75e1
  variant carriers: 440
genotype depth: GenotypeDepth
  all individuals: 4185
  bin: 5.75e1
  variant carriers: 15
genotype depth: GenotypeDepth
  all individuals: 1631
  bin: 7.5e0
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 367
  bin: 8.25e1
  variant carriers: 53
genotype depth: GenotypeDepth
  all individuals: 661
  bin: 7.75e1
  variant carriers: 43
genotype depth: GenotypeDepth
  all individuals: 186
  bin: 9.25e1
  variant carriers: 47
genotype depth: GenotypeDepth
  all individuals: 5617
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7605
  bin: 4.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 6851
  bin: 3.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 182
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2218
  bin: 7.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 36029
  bin: 9.75e1
  variant carriers: 789
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 5.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Lys149Lys
num of homozygotes: 41
population: South Asian
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-134851400-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851400
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851400
    reference: chr 7
allele count: 2
allele frequency: 1.680163984004839e-5
allele num: 119036
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2101A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.272A>G
  hgvsp: ENSP00000400024.1:p.Asp91Gly
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.672A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.437A>G
  hgvsp: ENSP00000376823.3:p.Asp146Gly
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.434A>G
  hgvsp: ENSP00000389941.1:p.Asp145Gly
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.483A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.650A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.272A>G
  hgvsp: ENSP00000473365.1:p.Asp91Gly
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2869
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 330
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6141
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 199
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4228
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6015
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 114
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7589
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7654
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 295
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1087
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1636
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2808
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35761
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Asp146Gly
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum

7-134851401-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851401
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851401
    reference: chr 7
allele count: 4
allele frequency: 3.358917085131754e-5
allele num: 119086
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.649G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.271G>A
  hgvsp: ENSP00000473365.1:p.Asp91Asn
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.271G>A
  hgvsp: ENSP00000400024.1:p.Asp91Asn
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2100G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.482G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.671G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.436G>A
  hgvsp: ENSP00000376823.3:p.Asp146Asn
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.433G>A
  hgvsp: ENSP00000389941.1:p.Asp145Asn
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1029
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 103
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 344
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6922
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 327
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 297
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4227
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6147
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 198
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1036
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7565
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7658
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1715
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 649
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6065
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2799
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 142
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35762
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 1522
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Asp146Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: Other
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum
site quality: DP

7-134851404-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851404
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851404
    reference: chr 7
allele count: 1
allele frequency: 8.37885846432282e-6
allele num: 119348
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.268G>A
  hgvsp: ENSP00000400024.1:p.Glu90Lys
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.430G>A
  hgvsp: ENSP00000389941.1:p.Glu144Lys
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.433G>A
  hgvsp: ENSP00000376823.3:p.Glu145Lys
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.268G>A
  hgvsp: ENSP00000473365.1:p.Glu90Lys
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.479G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.646G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.668G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2097G>A
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1037
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6165
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 925
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4226
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7608
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 650
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1716
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7655
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5935
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 345
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2870
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 294
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 62
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 151
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35762
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Glu145Lys
num of homozygotes: 0
population: East Asian
population: Other
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

7-134851405-T-TTCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851405
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851408
    reference: chr 7
allele count: 167
allele frequency: 1.399269363541911e-3
allele num: 119348
alternate allele: TTCC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.642_644dupGGA
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.429_431dupGGA
  hgvsp: ENSP00000376823.3:p.Glu144dup
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.426_428dupGGA
  hgvsp: ENSP00000389941.1:p.Glu143dup
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.264_266dupGGA
  hgvsp: ENSP00000400024.1:p.Glu89dup
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.475_477dupGGA
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2093_356+2095dupGGA
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.264_266dupGGA
  hgvsp: ENSP00000473365.1:p.Glu89dup
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.664_666dupGGA
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 6.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 2.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 4.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 2.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 5.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.75e1
  variant carriers: 13
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 3.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 5.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 3.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.75e1
  variant carriers: 55
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 12
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 6.25e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 4.25e1
  variant carriers: 5
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2788
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 173
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 83
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu144dup
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: T
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

7-134851405-T-TTCCTCC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851405
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851411
    reference: chr 7
allele count: 1
allele frequency: 8.37885846432282e-6
allele num: 119348
alternate allele: TTCCTCC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.661_666dupGGAGGA
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.639_644dupGGAGGA
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.423_428dupGGAGGA
  hgvsp: ENSP00000389941.1:p.Glu142_Glu143dup
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.472_477dupGGAGGA
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.261_266dupGGAGGA
  hgvsp: ENSP00000473365.1:p.Glu88_Glu89dup
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.426_431dupGGAGGA
  hgvsp: ENSP00000376823.3:p.Glu143_Glu144dup
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.261_266dupGGAGGA
  hgvsp: ENSP00000400024.1:p.Glu88_Glu89dup
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4225
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 662
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5925
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7408
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 207
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 855
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7216
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6225
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6949
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2872
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1040
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6232
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 132
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9474
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 128
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1631
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Glu143_Glu144dup
num of homozygotes: 0
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
reference allele: T
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/7-134851413-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851413
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851413
    reference: chr 7
allele count: 1
allele frequency: 8.3380582329987e-6
allele num: 119932
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.470G>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.259G>T
  hgvsp: ENSP00000473365.1:p.Glu87Ter
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.259G>T
  hgvsp: ENSP00000400024.1:p.Glu87Ter
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2088G>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.659G>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.424G>T
  hgvsp: ENSP00000376823.3:p.Glu142Ter
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.637G>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.421G>T
  hgvsp: ENSP00000389941.1:p.Glu141Ter
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 265
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 681
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6510
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6919
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 46
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4236
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7489
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 153
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Glu142Ter
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: MQRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-134851421-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851421
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851421
    reference: chr 7
allele count: 2
allele frequency: 1.664059639897494e-5
allele num: 120188
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.651C>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.413C>G
  hgvsp: ENSP00000389941.1:p.Pro138Arg
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.251C>G
  hgvsp: ENSP00000400024.1:p.Pro84Arg
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.629C>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.462C>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.416C>G
  hgvsp: ENSP00000376823.3:p.Pro139Arg
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2080C>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.251C>G
  hgvsp: ENSP00000473365.1:p.Pro84Arg
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 565
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 132
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7643
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6612
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4237
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6259
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7557
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 36
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2265
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Pro139Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: Other
population: African
reference allele: G
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum

7-134851422-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851422
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851422
    reference: chr 7
allele count: 3
allele frequency: 2.495508085446197e-5
allele num: 120216
alternate allele: C
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.415C>G
  hgvsp: ENSP00000376823.3:p.Pro139Ala
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2079C>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.412C>G
  hgvsp: ENSP00000389941.1:p.Pro138Ala
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.250C>G
  hgvsp: ENSP00000400024.1:p.Pro84Ala
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.650C>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.461C>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.250C>G
  hgvsp: ENSP00000473365.1:p.Pro84Ala
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.628C>G
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6257
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 556
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 32
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7563
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 136
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6619
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7644
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2795
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro139Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: East Asian
reference allele: G
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: MQRankSum

7-134851434-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851434
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851434
    reference: chr 7
allele count: 1
allele frequency: 8.299581701082266e-6
allele num: 120488
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.449T>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.400T>C
  hgvsp: ENSP00000389941.1:p.Cys134Arg
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.238T>C
  hgvsp: ENSP00000473365.1:p.Cys80Arg
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.238T>C
  hgvsp: ENSP00000400024.1:p.Cys80Arg
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2067T>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.403T>C
  hgvsp: ENSP00000376823.3:p.Cys135Arg
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.616T>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.638T>C
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 135
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7628
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6702
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 439
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5936
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 86
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 92
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2501
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2797
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Cys135Arg
num of homozygotes: 0
population: European (Finnish)
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: MQRankSum
site quality: DP
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff

7-134851440-A-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851440
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851440
    reference: chr 7
allele count: 5
allele frequency: 4.14669342666158e-5
allele num: 120578
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.397T>A
  hgvsp: ENSP00000376823.3:p.Ser133Thr
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.232T>A
  hgvsp: ENSP00000400024.1:p.Ser78Thr
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.394T>A
  hgvsp: ENSP00000389941.1:p.Ser132Thr
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.632T>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.232T>A
  hgvsp: ENSP00000473365.1:p.Ser78Thr
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.443T>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.610T>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2061T>A
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4238
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 138
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 401
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6709
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7660
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5933
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 56
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2953
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser133Thr
num of homozygotes: 0
population: African
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
reference allele: A
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-134851442-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851442
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851442
    reference: chr 7
allele count: 4
allele frequency: 3.3166945821794e-5
allele num: 120602
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.395G>C
  hgvsp: ENSP00000376823.3:p.Ser132Thr
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.230G>C
  hgvsp: ENSP00000400024.1:p.Ser77Thr
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.392G>C
  hgvsp: ENSP00000389941.1:p.Ser131Thr
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2059G>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.230G>C
  hgvsp: ENSP00000473365.1:p.Ser77Thr
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.441G>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.630G>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.608G>C
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 388
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7646
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5934
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 656
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7652
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6708
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 468
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2500
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1642
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 47
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Ser132Thr
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-134851447-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851447
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851448
    reference: chr 7
allele count: 0
allele frequency: 0.0e0
allele num: 120556
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.602dupG
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.435dupG
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.224dupG
  hgvsp: ENSP00000400024.1:p.Ser76PhefsTer6
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.389dupG
  hgvsp: ENSP00000376823.3:p.Ser131PhefsTer6
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.386dupG
  hgvsp: ENSP00000389941.1:p.Ser130PhefsTer6
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.224dupG
  hgvsp: ENSP00000473365.1:p.Ser76PhefsTer6
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2053dupG
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.624dupG
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: frameshift
filter: AC_Adj0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2794
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Ser131PhefsTer6
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: European (Non-Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum

http://identifiers.org/exac.variant/7-134851447-A-ACC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851447
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851449
    reference: chr 7
allele count: 1
allele frequency: 8.294900295298451e-6
allele num: 120556
alternate allele: ACC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.385_386dupGG
  hgvsp: ENSP00000389941.1:p.Ser130ValfsTer19
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.623_624dupGG
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.223_224dupGG
  hgvsp: ENSP00000473365.1:p.Ser76ValfsTer19
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.601_602dupGG
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.223_224dupGG
  hgvsp: ENSP00000400024.1:p.Ser76ValfsTer19
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.434_435dupGG
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.388_389dupGG
  hgvsp: ENSP00000376823.3:p.Ser131ValfsTer19
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2052_356+2053dupGG
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1641
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 87
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35778
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 420
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1532
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser131ValfsTer19
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: European (Finnish)
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: A
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-134851447-AC-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851447
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851446
    reference: chr 7
allele count: 1
allele frequency: 8.294900295298451e-6
allele num: 120556
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.389delG
  hgvsp: ENSP00000376823.3:p.Gly130ValfsTer19
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.624delG
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.435delG
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.224delG
  hgvsp: ENSP00000473365.1:p.Gly75ValfsTer19
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.224delG
  hgvsp: ENSP00000400024.1:p.Gly75ValfsTer19
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.386delG
  hgvsp: ENSP00000389941.1:p.Gly129ValfsTer19
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2053delG
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.602delG
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 341
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6264
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1735
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6739
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7558
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 206
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4253
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2884
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 89
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10211
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 102
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 72
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 43
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly130ValfsTer19
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
reference allele: AC
site quality: QD
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-134851448-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851448
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851448
    reference: chr 7
allele count: 3
allele frequency: 2.487644697999934e-5
allele num: 120596
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.389G>T
  hgvsp: ENSP00000376823.3:p.Gly130Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.435G>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.224G>T
  hgvsp: ENSP00000400024.1:p.Gly75Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.224G>T
  hgvsp: ENSP00000473365.1:p.Gly75Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.386G>T
  hgvsp: ENSP00000389941.1:p.Gly129Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.624G>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2053G>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.602G>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 201
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1731
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6262
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2890
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 349
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7600
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4255
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6753
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 331
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7664
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1047
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6913
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 161
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1547
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2263
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 406
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Gly130Val
num of homozygotes: 0
population: East Asian
population: African
population: Other
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP

7-134851451-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851451
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851451
    reference: chr 7
allele count: 1
allele frequency: 8.280613427842734e-6
allele num: 120764
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.221G>A
  hgvsp: ENSP00000473365.1:p.Gly74Glu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.383G>A
  hgvsp: ENSP00000389941.1:p.Gly128Glu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.621G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.432G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.599G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2050G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.386G>A
  hgvsp: ENSP00000376823.3:p.Gly129Glu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.221G>A
  hgvsp: ENSP00000400024.1:p.Gly74Glu
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7649
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6773
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1727
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 187
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 373
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 74
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 77
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2800
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 67
  bin: 3.75e1
  variant carriers: 0
hgvs: p.Gly129Glu
num of homozygotes: 0
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: QD

7-134851453-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851453
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851453
    reference: chr 7
allele count: 1
allele frequency: 8.278008642241022e-6
allele num: 120802
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.619G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.219G>A
  hgvsp: ENST00000483029.2:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.430G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2048G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.381G>A
  hgvsp: ENST00000430372.1:c.381G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.219G>A
  hgvsp: ENST00000424142.1:c.219G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.384G>A
  hgvsp: ENST00000393114.3:c.384G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.597G>A
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6782
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6273
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7663
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 348
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 290
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 355
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 59
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1648
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro128Pro
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: Latino
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP

7-134851454-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851454
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851454
    reference: chr 7
allele count: 6
allele frequency: 4.965900814407734e-5
allele num: 120824
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.218C>T
  hgvsp: ENSP00000400024.1:p.Pro73Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.380C>T
  hgvsp: ENSP00000389941.1:p.Pro127Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.218C>T
  hgvsp: ENSP00000473365.1:p.Pro73Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.429C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.383C>T
  hgvsp: ENSP00000376823.3:p.Pro128Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2047C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.618C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.596C>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 281
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6914
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 154
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6784
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6272
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 181
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1566
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35797
  bin: 9.75e1
  variant carriers: 6
genotype quality: GenotypeQuality
  all individuals: 1647
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Pro128Leu
num of homozygotes: 0
population: East Asian
population: South Asian
population: African
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: DP

7-134851455-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851455
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851455
    reference: chr 7
allele count: 1
allele frequency: 8.275405494869249e-6
allele num: 120840
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.428C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.217C>T
  hgvsp: ENSP00000400024.1:p.Pro73Ser
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.382C>T
  hgvsp: ENSP00000376823.3:p.Pro128Ser
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.617C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.379C>T
  hgvsp: ENSP00000389941.1:p.Pro127Ser
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.217C>T
  hgvsp: ENSP00000473365.1:p.Pro73Ser
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2046C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.595C>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6795
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 276
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7694
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 175
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 350
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2274
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 335
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1567
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Pro128Ser
num of homozygotes: 0
population: Other
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-134851458-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851458
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851458
    reference: chr 7
allele count: 2
allele frequency: 1.654396558855158e-5
allele num: 120890
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.592A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.214A>G
  hgvsp: ENSP00000473365.1:p.Arg72Gly
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.376A>G
  hgvsp: ENSP00000389941.1:p.Arg126Gly
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.214A>G
  hgvsp: ENSP00000400024.1:p.Arg72Gly
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.379A>G
  hgvsp: ENSP00000376823.3:p.Arg127Gly
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.425A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.614A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2043A>G
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7729
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7666
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6268
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 143
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2510
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1573
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 42
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 71
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Arg127Gly
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
population: East Asian
population: European (Finnish)
reference allele: T
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD

7-134851459-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851459
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851459
    reference: chr 7
allele count: 1
allele frequency: 8.271161767381846e-6
allele num: 120902
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.378G>A
  hgvsp: ENST00000393114.3:c.378G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.213G>A
  hgvsp: ENST00000483029.2:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.613G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.213G>A
  hgvsp: ENST00000424142.1:c.213G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.375G>A
  hgvsp: ENST00000430372.1:c.375G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.424G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.591G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2042G>A
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6270
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 246
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 159
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 301
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7728
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7665
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6810
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1575
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 78
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 60
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gln126Gln
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: QD
site quality: MQ

7-134851460-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851460
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851460
    reference: chr 7
allele count: 1
allele frequency: 8.271161767381846e-6
allele num: 120902
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.612A>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.377A>T
  hgvsp: ENSP00000376823.3:p.Gln126Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.212A>T
  hgvsp: ENSP00000473365.1:p.Gln71Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.423A>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.374A>T
  hgvsp: ENSP00000389941.1:p.Gln125Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2041A>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.212A>T
  hgvsp: ENSP00000400024.1:p.Gln71Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.590A>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6271
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 157
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6814
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7667
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 142
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7734
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5941
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 52
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2801
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2950
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2511
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 68
  bin: 2.75e1
  variant carriers: 0
hgvs: p.Gln126Leu
num of homozygotes: 0
population: Other
population: East Asian
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

7-134851471-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851471
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851471
    reference: chr 7
allele count: 3
allele frequency: 2.478069088566189e-5
allele num: 121062
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.366C>T
  hgvsp: ENST00000393114.3:c.366C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.363C>T
  hgvsp: ENST00000430372.1:c.363C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.601C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.412C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.579C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.201C>T
  hgvsp: ENST00000424142.1:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.201C>T
  hgvsp: ENST00000483029.2:c.201C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2030C>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 7806
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6876
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7224
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 657
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6916
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4240
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5943
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 53
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2282
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 51
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35795
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Leu122Leu
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum

7-134851476-C-CT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851476
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851477
    reference: chr 7
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: CT
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.573dupA
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.195dupA
  hgvsp: ENSP00000400024.1:p.Gly66ArgfsTer16
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.406dupA
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.195dupA
  hgvsp: ENSP00000473365.1:p.Gly66ArgfsTer16
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.357dupA
  hgvsp: ENSP00000389941.1:p.Gly120ArgfsTer16
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.595dupA
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2024dupA
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.360dupA
  hgvsp: ENSP00000376823.3:p.Gly121ArgfsTer16
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6891
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 147
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7849
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6302
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2881
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2286
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 41
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2978
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Gly121ArgfsTer16
num of homozygotes: 0
population: Other
population: Latino
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: African
reference allele: C
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

7-134851477-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851477
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851477
    reference: chr 7
allele count: 1
allele frequency: 8.258865892535638e-6
allele num: 121082
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.595A>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2024A>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.360A>T
  hgvsp: ENST00000393114.3:c.360A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.357A>T
  hgvsp: ENST00000430372.1:c.357A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.406A>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.195A>T
  hgvsp: ENST00000424142.1:c.195A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.573A>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.195A>T
  hgvsp: ENST00000483029.2:c.195A>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: synonymous
filter: VQSRTrancheSNP99.80to99.90
genotype depth: GenotypeDepth
  all individuals: 7236
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6874
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 61
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 144
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6314
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1041
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7800
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4249
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 98
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 304
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 351
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 44
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2802
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1649
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro120Pro
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP

7-134851479-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851479
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851479
    reference: chr 7
allele count: 15
allele frequency: 1.238154983986529e-4
allele num: 121148
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.193C>G
  hgvsp: ENSP00000400024.1:p.Pro65Ala
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.593C>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.571C>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.193C>G
  hgvsp: ENSP00000473365.1:p.Pro65Ala
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.355C>G
  hgvsp: ENSP00000389941.1:p.Pro119Ala
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.358C>G
  hgvsp: ENSP00000376823.3:p.Pro120Ala
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2022C>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.404C>G
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 130
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7675
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1042
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2879
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7826
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6902
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1728
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 37
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35817
  bin: 9.75e1
  variant carriers: 15
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 33
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2526
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2971
  bin: 6.75e1
  variant carriers: 0
hgvs: p.Pro120Ala
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ

http://identifiers.org/exac.variant/7-134851482-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851482
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851482
    reference: chr 7
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.190G>T
  hgvsp: ENSP00000400024.1:p.Ala64Ser
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.190G>T
  hgvsp: ENSP00000473365.1:p.Ala64Ser
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.401G>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.355G>T
  hgvsp: ENSP00000376823.3:p.Ala119Ser
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.568G>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.590G>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.352G>T
  hgvsp: ENSP00000389941.1:p.Ala118Ser
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2019G>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6329
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 47
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 117
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7847
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6906
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10790
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35811
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ala119Ser
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum

7-134851487-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851487
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851487
    reference: chr 7
allele count: 1
allele frequency: 8.249872126982032e-6
allele num: 121214
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.350C>T
  hgvsp: ENSP00000376823.3:p.Ala117Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.563C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.185C>T
  hgvsp: ENSP00000400024.1:p.Ala62Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.347C>T
  hgvsp: ENSP00000389941.1:p.Ala116Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.585C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.185C>T
  hgvsp: ENSP00000473365.1:p.Ala62Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2014C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.396C>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 302
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6918
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 38
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6330
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7870
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2288
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 21
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala117Val
num of homozygotes: 0
population: South Asian
population: African
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ

7-134851492-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851492
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851492
    reference: chr 7
allele count: 1
allele frequency: 8.248511143738554e-6
allele num: 121234
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.342A>G
  hgvsp: ENST00000430372.1:c.342A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.345A>G
  hgvsp: ENST00000393114.3:c.345A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.180A>G
  hgvsp: ENST00000483029.2:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.180A>G
  hgvsp: ENST00000424142.1:c.180A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.391A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.580A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.558A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2009A>G
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 65
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7858
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 86
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6937
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6334
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6930
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10791
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1587
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Lys115Lys
num of homozygotes: 0
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
population: East Asian
reference allele: T
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQRankSum

7-134851500-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851500
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851500
    reference: chr 7
allele count: 3
allele frequency: 2.473655568198684e-5
allele num: 121278
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.383A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.572A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.334A>G
  hgvsp: ENSP00000389941.1:p.Ser112Gly
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.172A>G
  hgvsp: ENSP00000400024.1:p.Ser58Gly
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.550A>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.337A>G
  hgvsp: ENSP00000376823.3:p.Ser113Gly
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.172A>G
  hgvsp: ENSP00000473365.1:p.Ser58Gly
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2001A>G
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6965
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7856
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 55
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2995
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser113Gly
num of homozygotes: 0
population: East Asian
population: South Asian
population: Other
population: European (Non-Finnish)
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

7-134851501-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851501
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851501
    reference: chr 7
allele count: 1
allele frequency: 8.245246615326264e-6
allele num: 121282
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.549C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.571C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.336C>T
  hgvsp: ENST00000393114.3:c.336C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.171C>T
  hgvsp: ENST00000483029.2:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.171C>T
  hgvsp: ENST00000424142.1:c.171C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.333C>T
  hgvsp: ENST00000430372.1:c.333C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+2000C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.382C>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6340
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 51
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6968
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7860
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 64
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 303
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1044
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 29
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 9.25e1
  variant carriers: 0
hgvs: p.Asp112Asp
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: MQ
site quality: DP

7-134851503-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851503
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851503
    reference: chr 7
allele count: 8
allele frequency: 6.595979750342167e-5
allele num: 121286
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1998G>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.169G>C
  hgvsp: ENSP00000473365.1:p.Asp57His
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.169G>C
  hgvsp: ENSP00000400024.1:p.Asp57His
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.331G>C
  hgvsp: ENSP00000389941.1:p.Asp111His
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.380G>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.569G>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.547G>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.334G>C
  hgvsp: ENSP00000376823.3:p.Asp112His
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1045
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1729
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7676
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 45
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7854
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 52
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5946
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6341
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 62
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 658
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 352
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4241
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6967
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2996
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2529
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 17
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1589
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Asp112His
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: C
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD

7-134851523-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851523
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851523
    reference: chr 7
allele count: 3
allele frequency: 2.47255464345762e-5
allele num: 121332
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.527G>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.311G>C
  hgvsp: ENSP00000389941.1:p.Gly104Ala
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.149G>C
  hgvsp: ENSP00000400024.1:p.Gly50Ala
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.549G>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.360G>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.314G>C
  hgvsp: ENSP00000376823.3:p.Gly105Ala
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.149G>C
  hgvsp: ENSP00000473365.1:p.Gly50Ala
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1978G>C
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6995
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 36
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 56
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7834
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 48
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5947
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 18
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2294
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10824
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 27
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Gly105Ala
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum

7-134851536-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851536
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851536
    reference: chr 7
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1965C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.514C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.536C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.136C>T
  hgvsp: ENSP00000400024.1:p.His46Tyr
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.298C>T
  hgvsp: ENSP00000389941.1:p.His100Tyr
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.301C>T
  hgvsp: ENSP00000376823.3:p.His101Tyr
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.347C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.136C>T
  hgvsp: ENSP00000473365.1:p.His46Tyr
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35812
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 8.75e1
  variant carriers: 0
hgvs: p.His101Tyr
num of homozygotes: 0
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: FS
site quality: ReadPosRankSum

7-134851536-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851536
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851536
    reference: chr 7
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.301C>A
  hgvsp: ENSP00000376823.3:p.His101Asn
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.347C>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.514C>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.298C>A
  hgvsp: ENSP00000389941.1:p.His100Asn
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1965C>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.536C>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.136C>A
  hgvsp: ENSP00000400024.1:p.His46Asn
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.136C>A
  hgvsp: ENSP00000473365.1:p.His46Asn
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6348
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6934
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6994
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7801
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7672
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 31
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 67
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1043
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7226
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 234
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 162
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 659
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2809
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10762
  bin: 6.25e1
  variant carriers: 0
hgvs: p.His101Asn
num of homozygotes: 0
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Latino
population: African
reference allele: G
site quality: ClippingRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/7-134851540-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851540
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851540
    reference: chr 7
allele count: 88
allele frequency: 7.252348772045492e-4
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.294G>T
  hgvsp: ENST00000430372.1:c.294G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.343G>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1961G>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.532G>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.132G>T
  hgvsp: ENST00000483029.2:c.132G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.132G>T
  hgvsp: ENST00000424142.1:c.132G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.297G>T
  hgvsp: ENST00000393114.3:c.297G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.510G>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.75e1
  variant carriers: 6
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 8
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 6.25e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 9.75e1
  variant carriers: 38
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ser99Ser
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: MQ

7-134851540-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851540
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851540
    reference: chr 7
allele count: 2
allele frequency: 1.648261084555794e-5
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.132G>A
  hgvsp: ENST00000424142.1:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.297G>A
  hgvsp: ENST00000393114.3:c.297G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.532G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.294G>A
  hgvsp: ENST00000430372.1:c.294G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.343G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1961G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.510G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.132G>A
  hgvsp: ENST00000483029.2:c.132G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1054
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6923
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6339
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6987
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 238
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 340
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7668
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4239
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1730
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5942
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 361
  bin: 8.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1591
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2997
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10690
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 23
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35854
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 49
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ser99Ser
num of homozygotes: 0
population: African
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum

7-134851541-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851541
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851541
    reference: chr 7
allele count: 17
allele frequency: 1.400998829753919e-4
allele num: 121342
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.296C>T
  hgvsp: ENSP00000376823.3:p.Ser99Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.131C>T
  hgvsp: ENSP00000400024.1:p.Ser44Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.293C>T
  hgvsp: ENSP00000389941.1:p.Ser98Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1960C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.131C>T
  hgvsp: ENSP00000473365.1:p.Ser44Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.531C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.342C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.509C>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7761
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7009
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 73
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2880
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 78
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7674
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5949
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 6.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6345
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 9
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10742
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 84
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 24
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 30
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.75e1
  variant carriers: 0
hgvs: p.Ser99Leu
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: African
population: East Asian
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff

7-134851545-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851545
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851545
    reference: chr 7
allele count: 3
allele frequency: 2.472350876036327e-5
allele num: 121342
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.127G>A
  hgvsp: ENSP00000473365.1:p.Val43Met
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.292G>A
  hgvsp: ENSP00000376823.3:p.Val98Met
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.527G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.127G>A
  hgvsp: ENSP00000400024.1:p.Val43Met
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1956G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.505G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.289G>A
  hgvsp: ENSP00000389941.1:p.Val97Met
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.338G>A
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7733
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6355
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7013
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7677
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7219
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 87
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 83
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 93
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2533
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35812
  bin: 9.75e1
  variant carriers: 3
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 31
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 26
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1595
  bin: 7.25e1
  variant carriers: 0
hgvs: p.Val98Met
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: European (Finnish)
population: African
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-134851546-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851546
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851546
    reference: chr 7
allele count: 12
allele frequency: 9.889566507334761e-5
allele num: 121340
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.126C>T
  hgvsp: ENST00000483029.2:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.291C>T
  hgvsp: ENST00000393114.3:c.291C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1955C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.337C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.504C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.126C>T
  hgvsp: ENST00000424142.1:c.126C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.526C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.288C>T
  hgvsp: ENST00000430372.1:c.288C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7720
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 5.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 7
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35821
  bin: 9.75e1
  variant carriers: 12
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 104
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser97Ser
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: South Asian
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum

7-134851546-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851546
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851546
    reference: chr 7
allele count: 1
allele frequency: 8.241305422778968e-6
allele num: 121340
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1955C>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.126C>A
  hgvsp: ENST00000483029.2:c.126C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.291C>A
  hgvsp: ENST00000393114.3:c.291C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.288C>A
  hgvsp: ENST00000430372.1:c.288C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.337C>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.126C>A
  hgvsp: ENST00000424142.1:c.126C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.504C>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.526C>A
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6353
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 96
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7001
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7720
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 88
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 663
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2530
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 38
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2803
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 32
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10676
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2284
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ser97Ser
num of homozygotes: 0
population: European (Finnish)
population: African
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Non-Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

7-134851554-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851554
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851554
    reference: chr 7
allele count: 5
allele frequency: 4.121060266385336e-5
allele num: 121328
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.518C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.280C>T
  hgvsp: ENSP00000389941.1:p.Pro94Ser
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.283C>T
  hgvsp: ENSP00000376823.3:p.Pro95Ser
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.118C>T
  hgvsp: ENSP00000473365.1:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.118C>T
  hgvsp: ENSP00000400024.1:p.Pro40Ser
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.329C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1947C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.496C>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 93
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 664
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7709
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7679
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7003
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 40
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 99
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6927
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 5
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 0
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 124
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2531
  bin: 8.25e1
  variant carriers: 0
hgvs: p.Pro95Ser
num of homozygotes: 0
population: South Asian
population: Other
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: East Asian
reference allele: G
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: VQSLOD

7-134851564-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851564
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851564
    reference: chr 7
allele count: 1
allele frequency: 8.242392271933006e-6
allele num: 121324
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.486G>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.319G>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.270G>C
  hgvsp: ENSP00000389941.1:p.Glu90Asp
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.273G>C
  hgvsp: ENSP00000376823.3:p.Glu91Asp
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1937G>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.108G>C
  hgvsp: ENSP00000400024.1:p.Glu36Asp
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.508G>C
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.108G>C
  hgvsp: ENSP00000473365.1:p.Glu36Asp
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6928
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 0
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 104
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6351
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7676
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 124
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6990
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7222
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 43
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1049
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 28
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 25
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 147
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Glu91Asp
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum

7-134851578-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851578
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851578
    reference: chr 7
allele count: 3
allele frequency: 2.474798303938229e-5
allele num: 121222
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.472G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.305G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.259G>A
  hgvsp: ENSP00000376823.3:p.Ala87Thr
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.256G>A
  hgvsp: ENSP00000389941.1:p.Ala86Thr
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.94G>A
  hgvsp: ENSP00000473365.1:p.Ala32Thr
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.494G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.94G>A
  hgvsp: ENSP00000400024.1:p.Ala32Thr
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1923G>A
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6356
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7688
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6924
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7544
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 221
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 232
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 85
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7220
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6848
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10314
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 16
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1654
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1579
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 293
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2290
  bin: 7.75e1
  variant carriers: 0
hgvs: p.Ala87Thr
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: C
site quality: QD
site quality: FS
site quality: BaseQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum

7-134851579-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851579
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851579
    reference: chr 7
allele count: 1
allele frequency: 8.249736008447729e-6
allele num: 121216
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.93G>A
  hgvsp: ENST00000483029.2:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.493G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.255G>A
  hgvsp: ENST00000430372.1:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.93G>A
  hgvsp: ENST00000424142.1:c.93G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.471G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.258G>A
  hgvsp: ENST00000393114.3:c.258G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1922G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.304G>A
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6347
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7539
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6925
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 89
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6849
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 220
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 305
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2884
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 301
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 85
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1653
  bin: 8.75e1
  variant carriers: 0
hgvs: p.Gly86Gly
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: African
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: MQ

7-134851580-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851580
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851580
    reference: chr 7
allele count: 1
allele frequency: 8.255184255712587e-6
allele num: 121136
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.470G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1921G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.92G>A
  hgvsp: ENSP00000400024.1:p.Gly31Glu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.92G>A
  hgvsp: ENSP00000473365.1:p.Gly31Glu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.254G>A
  hgvsp: ENSP00000389941.1:p.Gly85Glu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.492G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.303G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.257G>A
  hgvsp: ENSP00000376823.3:p.Gly86Glu
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6323
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 275
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 101
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6926
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7521
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 665
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6825
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 306
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 316
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10055
  bin: 6.25e1
  variant carriers: 0
hgvs: p.Gly86Glu
num of homozygotes: 0
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
population: African
reference allele: C
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: QD

7-134851582-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851582
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851582
    reference: chr 7
allele count: 2
allele frequency: 1.651009592365732e-5
allele num: 121138
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.90G>A
  hgvsp: ENST00000483029.2:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.468G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1919G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.490G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.255G>A
  hgvsp: ENST00000393114.3:c.255G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.90G>A
  hgvsp: ENST00000424142.1:c.90G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.252G>A
  hgvsp: ENST00000430372.1:c.252G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.301G>A
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7687
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 245
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 107
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7512
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 279
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6829
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6915
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6322
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2883
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 307
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 9
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 323
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1572
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 79
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 19
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 122
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala85Ala
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: African
population: Other
population: Latino
population: European (Finnish)
population: South Asian
reference allele: C
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD

7-134851583-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851583
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851583
    reference: chr 7
allele count: 12
allele frequency: 9.908184160116256e-5
allele num: 121112
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1918C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.89C>T
  hgvsp: ENSP00000473365.1:p.Ala30Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.254C>T
  hgvsp: ENSP00000376823.3:p.Ala85Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.251C>T
  hgvsp: ENSP00000389941.1:p.Ala84Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.489C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.89C>T
  hgvsp: ENSP00000400024.1:p.Ala30Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.300C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.467C>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7221
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 109
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6312
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 243
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6845
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2882
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.75e1
  variant carriers: 10
genotype depth: GenotypeDepth
  all individuals: 7500
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 291
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 237
  bin: 8.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1048
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10113
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2873
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1655
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 114
  bin: 5.25e1
  variant carriers: 0
hgvs: p.Ala85Val
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Latino
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: QD
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum

7-134851587-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851587
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851587
    reference: chr 7
allele count: 2
allele frequency: 1.650818806127839e-5
allele num: 121152
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.85C>G
  hgvsp: ENSP00000400024.1:p.Leu29Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.485C>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1914C>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.247C>G
  hgvsp: ENSP00000389941.1:p.Leu83Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.85C>G
  hgvsp: ENSP00000473365.1:p.Leu29Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.463C>G
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.250C>G
  hgvsp: ENSP00000376823.3:p.Leu84Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.296C>G
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 667
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 314
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6308
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 9.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 6846
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2886
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7472
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 118
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6911
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 369
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 35826
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 40
  bin: 4.25e1
  variant carriers: 0
hgvs: p.Leu84Val
num of homozygotes: 0
population: Other
population: South Asian
population: Latino
population: East Asian
population: African
population: European (Non-Finnish)
population: European (Finnish)
reference allele: G
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD

7-134851591-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851591
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851591
    reference: chr 7
allele count: 7
allele frequency: 5.780442286412657e-5
allele num: 121098
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.243G>A
  hgvsp: ENST00000430372.1:c.243G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.246G>A
  hgvsp: ENST00000393114.3:c.246G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.81G>A
  hgvsp: ENST00000424142.1:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.481G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1910G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.292G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.459G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.81G>A
  hgvsp: ENST00000483029.2:c.81G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6803
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1733
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6295
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7437
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7225
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 141
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 5953
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 257
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7685
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4245
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 163
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 135
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 127
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 91
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 109
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 417
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Pro82Pro
num of homozygotes: 0
population: Other
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
population: African
population: South Asian
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP

7-134851592-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851592
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851592
    reference: chr 7
allele count: 3
allele frequency: 2.477209671026556e-5
allele num: 121104
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.245C>T
  hgvsp: ENSP00000376823.3:p.Pro82Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.80C>T
  hgvsp: ENSP00000400024.1:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.291C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.458C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.242C>T
  hgvsp: ENSP00000389941.1:p.Pro81Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.80C>T
  hgvsp: ENSP00000473365.1:p.Pro27Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1909C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.480C>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6281
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6831
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 139
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7442
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 242
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6907
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5952
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 235
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 309
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1051
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2865
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 116
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10103
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 98
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 6
  bin: 1.25e1
  variant carriers: 0
hgvs: p.Pro82Leu
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: Other
population: African
reference allele: G
site quality: ClippingRankSum
site quality: FS
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum

7-134851600-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851600
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851600
    reference: chr 7
allele count: 12
allele frequency: 9.915880282272059e-5
allele num: 121018
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1901C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.450C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.472C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.234C>T
  hgvsp: ENST00000430372.1:c.234C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.283C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.72C>T
  hgvsp: ENST00000424142.1:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.72C>T
  hgvsp: ENST00000483029.2:c.72C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.237C>T
  hgvsp: ENST00000393114.3:c.237C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6897
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6826
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 185
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5951
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7681
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1050
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1734
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7469
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6230
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 212
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2885
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 666
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 316
  bin: 9.75e1
  variant carriers: 9
genotype quality: GenotypeQuality
  all individuals: 81
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10117
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1562
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Cys79Cys
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: East Asian
population: Latino
reference allele: G
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum

7-134851604-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851604
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851604
    reference: chr 7
allele count: 53
allele frequency: 4.380744561264299e-4
allele num: 120984
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.446C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.468C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1897C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.68C>T
  hgvsp: ENSP00000473365.1:p.Ala23Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.230C>T
  hgvsp: ENSP00000389941.1:p.Ala77Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.68C>T
  hgvsp: ENSP00000400024.1:p.Ala23Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.233C>T
  hgvsp: ENSP00000376823.3:p.Ala78Val
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.279C>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 190
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 328
  bin: 9.75e1
  variant carriers: 22
genotype depth: GenotypeDepth
  all individuals: 167
  bin: 9.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7465
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 210
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 668
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 416
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6216
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7223
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2889
  bin: 6.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 7678
  bin: 4.25e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.25e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 6890
  bin: 3.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6789
  bin: 2.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 1736
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5950
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 236
  bin: 8.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2537
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 64
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 507
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 105
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2805
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 63
  bin: 4.75e1
  variant carriers: 0
hgvs: p.Ala78Val
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: African
reference allele: G
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/7-134851619-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851619
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851619
    reference: chr 7
allele count: 1
allele frequency: 8.290774026663129e-6
allele num: 120616
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.53G>T
  hgvsp: ENSP00000400024.1:p.Arg18Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.215G>T
  hgvsp: ENSP00000389941.1:p.Arg72Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.431G>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.453G>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1882G>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.53G>T
  hgvsp: ENSP00000473365.1:p.Arg18Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.218G>T
  hgvsp: ENSP00000376823.3:p.Arg73Leu
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.264G>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7113
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 70
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 150
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 101
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 90
  bin: 5.75e1
  variant carriers: 0
hgvs: p.Arg73Leu
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
reference allele: C
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP

7-134851619-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851619
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851619
    reference: chr 7
allele count: 4
allele frequency: 3.316309610665252e-5
allele num: 120616
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.264G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.218G>A
  hgvsp: ENSP00000376823.3:p.Arg73His
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1882G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.53G>A
  hgvsp: ENSP00000400024.1:p.Arg18His
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.431G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.453G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.215G>A
  hgvsp: ENSP00000389941.1:p.Arg72His
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.53G>A
  hgvsp: ENSP00000473365.1:p.Arg18His
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1053
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6597
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 364
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7692
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6190
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6889
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7113
  bin: 2.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 164
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 233
  bin: 8.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 263
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7228
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 35830
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 2729
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 179
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2532
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1528
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 908
  bin: 2.25e1
  variant carriers: 0
hgvs: p.Arg73His
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
population: East Asian
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff

7-134851620-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851620
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851620
    reference: chr 7
allele count: 4
allele frequency: 3.316474587513473e-5
allele num: 120610
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.52C>T
  hgvsp: ENSP00000400024.1:p.Arg18Cys
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.214C>T
  hgvsp: ENSP00000389941.1:p.Arg72Cys
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.430C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.52C>T
  hgvsp: ENSP00000473365.1:p.Arg18Cys
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.217C>T
  hgvsp: ENSP00000376823.3:p.Arg73Cys
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.452C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1881C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.263C>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 794
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7095
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6154
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 312
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6610
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 384
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 259
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7227
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6881
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
  all individuals: 57
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 50
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2739
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 95
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 11
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 959
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4
  bin: 2.5e0
  variant carriers: 0
hgvs: p.Arg73Cys
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: African
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: FS
site quality: QD
site quality: InbreedingCoeff

7-134851622-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851622
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851622
    reference: chr 7
allele count: 5
allele frequency: 4.148138315523993e-5
allele num: 120536
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.50G>A
  hgvsp: ENSP00000400024.1:p.Ser17Asn
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.428G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.215G>A
  hgvsp: ENSP00000376823.3:p.Ser72Asn
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.212G>A
  hgvsp: ENSP00000389941.1:p.Ser71Asn
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.261G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.450G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.50G>A
  hgvsp: ENSP00000473365.1:p.Ser17Asn
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1879G>A
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6888
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 884
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6581
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7230
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 415
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6973
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 311
  bin: 9.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 6155
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 278
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4242
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 61
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 58
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 184
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2733
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 7.5e0
  variant carriers: 0
hgvs: p.Ser72Asn
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
population: African
population: East Asian
reference allele: C
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum

7-134851634-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851634
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851634
    reference: chr 7
allele count: 1
allele frequency: 8.349057391420508e-6
allele num: 119774
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1867G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.49-11G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.260-11G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.449-11G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.427-11G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.211-11G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.49-11G>A
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.214-11G>A
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6887
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5998
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 24
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7683
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1863
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6036
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6121
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 752
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 499
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5955
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 14
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1651
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 190
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 20
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 138
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1494
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2523
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 8068
  bin: 6.25e1
  variant carriers: 0
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Other
population: Latino
population: South Asian
population: European (Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: QD

7-134851635-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851635
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851635
    reference: chr 7
allele count: 3
allele frequency: 2.504800868330968e-5
allele num: 119770
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.260-12C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.449-12C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1866C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.49-12C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.49-12C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.427-12C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.211-12C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.214-12C>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 481
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6000
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 166
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7229
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1871
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 763
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 25
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5954
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 310
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7682
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6093
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 671
  bin: 7.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 2891
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6064
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4243
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6882
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 357
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 15
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 186
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 10
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 39
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 55
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1491
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 22
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2236
  bin: 7.75e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD

7-134851636-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 134851636
    reference: chr 7
  end: Position
    type: ExactPosition
    position: 134851636
    reference: chr 7
allele count: 10
allele frequency: 8.367640660039496e-5
allele num: 119508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000389941
  ensembl transcript: ENST00000430372
  gene symbol: C7orf49
  hgvsc: ENST00000430372.1:c.211-13C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000459937
  gene symbol: C7orf49
  hgvsc: ENST00000459937.1:n.356+1865C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000376823
  ensembl transcript: ENST00000393114
  gene symbol: C7orf49
  hgvsc: ENST00000393114.3:c.214-13C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000477820
  gene symbol: C7orf49
  hgvsc: ENST00000477820.1:n.260-13C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000481410
  gene symbol: C7orf49
  hgvsc: ENST00000481410.1:n.449-13C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000473365
  ensembl transcript: ENST00000483029
  gene symbol: C7orf49
  hgvsc: ENST00000483029.2:c.49-13C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl transcript: ENST00000472428
  gene symbol: C7orf49
  hgvsc: ENST00000472428.1:n.427-13C>T
  variant of: http://identifiers.org/hgnc/22432
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000122783
  ensembl protein: ENSP00000400024
  ensembl transcript: ENST00000424142
  gene symbol: C7orf49
  hgvsc: ENST00000424142.1:c.49-13C>T
  variant of: http://identifiers.org/hgnc/22432
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 231
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2217
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 39
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7684
  bin: 4.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 570
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 165
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5642
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 669
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1052
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 313
  bin: 9.75e1
  variant carriers: 3
genotype depth: GenotypeDepth
  all individuals: 1742
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 358
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 886
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5893
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4244
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7231
  bin: 4.75e1
  variant carriers: 1
num of homozygotes: 0
reference allele: G

GenotypeQuality
all individuals: 2457
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 145
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 195
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1067
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1457
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35703
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5300
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4240
bin: 2.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10040
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8296
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9914
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62936
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.989e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.426325e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.2e-1

VQSLOD
type: SiteQuality
SIO_000300: -3.45e-2

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.4e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 7.34e-1

QD
type: SiteQuality
SIO_000300: 9.109999999999999e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.38e0

GenotypeQuality
all individuals: 135
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 88
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1637
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5319
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 190
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35703
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1456
bin: 7.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11392
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62962
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.007861318282604e-4
allele num: 9922
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 788
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8300
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10112
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.427377e6

ClippingRankSum
type: SiteQuality
SIO_000300: 4.0e-2

MQ
type: SiteQuality
SIO_000300: 5.886e1

QD
type: SiteQuality
SIO_000300: 9.470000000000001e0

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

VQSLOD
type: SiteQuality
SIO_000300: -1.553e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.82e0

GenotypeQuality
all individuals: 303
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 196
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 326
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1459
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2459
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35704
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 5345
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2470
bin: 8.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11394
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 62988
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8304
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9926
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 786
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.966181675186787e-4
allele num: 10172
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.565e0

QD
type: SiteQuality
SIO_000300: 1.425e1

ClippingRankSum
type: SiteQuality
SIO_000300: 3.63e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.379999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.428214e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.65e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.01e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

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

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

GenotypeQuality
all individuals: 2469
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35703
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 304
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 148
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5579
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2458
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 194
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2813
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 328
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8316
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 798
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9940
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63234
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.870207593042828e-4
allele num: 10694
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11408
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -4.2e-2

ClippingRankSum
type: SiteQuality
SIO_000300: 2.25e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.383e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.9e-3

QD
type: SiteQuality
SIO_000300: 7.41e0

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

FS
type: SiteQuality
SIO_000300: 9.215999999999999e0

DP
type: SiteQuality
SIO_000300: 2.434733e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.65e-1

GenotypeQuality
all individuals: 334
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1465
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 307
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4114
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2813
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 656
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35703
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2470
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5682
bin: 6.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 806
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10960
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9944
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8322
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.762705923589205e-5
allele num: 11412
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63316
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.954e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

FS
type: SiteQuality
SIO_000300: 2.993e0

DP
type: SiteQuality
SIO_000300: 2.437372e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

MQRankSum
type: SiteQuality
SIO_000300: 1.12e0

VQSLOD
type: SiteQuality
SIO_000300: -7.141e-1

QD
type: SiteQuality
SIO_000300: 2.79e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.95e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.41e-1

GenotypeQuality
all individuals: 60
bin: 1.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 86
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 76
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3358
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 324
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6656
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 300
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2544
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1468
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35705
bin: 9.75e1
variant carriers: 3

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11434
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 63960
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.586800573888092e-4
allele num: 8364
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 12452
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9994
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 4.067e0

MQRankSum
type: SiteQuality
SIO_000300: -4.05e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.1e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.3e-3

DP
type: SiteQuality
SIO_000300: 2.456092e6

MQ
type: SiteQuality
SIO_000300: 5.952e1

VQSLOD
type: SiteQuality
SIO_000300: 9.18e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.92e-1

QD
type: SiteQuality
SIO_000300: 1.154e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.112e0

GenotypeQuality
all individuals: 35707
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 84
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 285
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7131
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2559
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2475
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2246
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 212
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13060
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10022
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 64198
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11438
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.194172438500119e-4
allele num: 8374
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.92e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.045e0

MQRankSum
type: SiteQuality
SIO_000300: -1.175e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.005e0

FS
type: SiteQuality
SIO_000300: 4.763e0

MQ
type: SiteQuality
SIO_000300: 5.895e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.034e0

QD
type: SiteQuality
SIO_000300: 1.491e1

DP
type: SiteQuality
SIO_000300: 2.463685e6

GenotypeQuality
all individuals: 2579
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 7533
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2602
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2814
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 268
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2246
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1474
bin: 7.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.552072016141549e-5
allele num: 64430
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10032
num of homozygotes: 0

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 858
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.463271875914545e-4
allele num: 13668
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8378
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 5.623e0

DP
type: SiteQuality
SIO_000300: 2.472575e6

BaseQRankSum
type: SiteQuality
SIO_000300: 3.86e-1

QD
type: SiteQuality
SIO_000300: 1.516e1

MQ
type: SiteQuality
SIO_000300: 5.97e1

VQSLOD
type: SiteQuality
SIO_000300: 4.99e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.05e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.45e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.29e0

GenotypeQuality
all individuals: 247
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 55
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 185
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35707
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2627
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2476
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2248
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1636
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 273
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8388
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.09664633202242e-5
allele num: 64586
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 862
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10050
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 13948
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.25e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.73e0

VQSLOD
type: SiteQuality
SIO_000300: -7.078e-1

QD
type: SiteQuality
SIO_000300: 1.461e1

MQRankSum
type: SiteQuality
SIO_000300: 2.07e0

FS
type: SiteQuality
SIO_000300: 3.153e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQ
type: SiteQuality
SIO_000300: 5.946e1

DP
type: SiteQuality
SIO_000300: 2.475716e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.19e0

GenotypeQuality
all individuals: 2475
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2254
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8147
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 225
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 253
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1480
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2645
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 14446
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10072
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8394
num of homozygotes: 0

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

Other
type: Population
allele count: 1
allele frequency: 1.149425287356322e-3
allele num: 870
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.543495709081929e-5
allele num: 64788
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.167e1

FS
type: SiteQuality
SIO_000300: 3.352e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.153e0

MQRankSum
type: SiteQuality
SIO_000300: 4.54e-1

DP
type: SiteQuality
SIO_000300: 2.483252e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.46e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.61e0

GenotypeQuality
all individuals: 91
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2769
bin: 9.25e1
variant carriers: 3

GenotypeQuality
all individuals: 2445
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 1469
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 198
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1621
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 179
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8748
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 2674
bin: 6.75e1
variant carriers: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.321527686005022e-4
allele num: 15134
num of homozygotes: 0

African
type: Population
allele count: 767
allele frequency: 7.57905138339921e-2
allele num: 10120
num of homozygotes: 41

Latino
type: Population
allele count: 34
allele frequency: 2.964254577157803e-3
allele num: 11470
num of homozygotes: 0

Other
type: Population
allele count: 7
allele frequency: 7.990867579908675e-3
allele num: 876
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 18
allele frequency: 2.764467379284925e-4
allele num: 65112
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 6
allele frequency: 9.113001215066828e-4
allele num: 6584
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.618e1

MQRankSum
type: SiteQuality
SIO_000300: 3.78e-1

MQ
type: SiteQuality
SIO_000300: 5.961e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.210000000000001e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.48e0

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.542483e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.22e-1

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

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 33
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2492
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 139
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 103
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 9425
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 146
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2800
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1520
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2258
bin: 7.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8430
num of homozygotes: 0

South Asian
type: Population
allele count: 2
allele frequency: 1.255020080321285e-4
allele num: 15936
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10164
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65554
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.86e-1

VQSLOD
type: SiteQuality
SIO_000300: -1.64e-1

MQ
type: SiteQuality
SIO_000300: 5.915e1

QD
type: SiteQuality
SIO_000300: 1.353e1

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-1

DP
type: SiteQuality
SIO_000300: 2.518291e6

ClippingRankSum
type: SiteQuality
SIO_000300: 9.54e-1

FS
type: SiteQuality
SIO_000300: 3.508e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.84e0

GenotypeQuality
all individuals: 37
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 99
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1064
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 65
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9486
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2487
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2259
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15960
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8436
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10162
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 4
allele frequency: 6.099978650074725e-5
allele num: 65574
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 4.84e0

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.883e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.22e-1

MQ
type: SiteQuality
SIO_000300: 5.954e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 1.191e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.193e0

DP
type: SiteQuality
SIO_000300: 2.519646e6

GenotypeQuality
all individuals: 78
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9683
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 963
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 130
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2268
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2491
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1638
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2831
bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.210408644888833e-5
allele num: 16102
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65658
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10182
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.52e0

FS
type: SiteQuality
SIO_000300: 2.602e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 1.91e0

MQRankSum
type: SiteQuality
SIO_000300: 1.52e-1

QD
type: SiteQuality
SIO_000300: 1.305e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.58e-1

DP
type: SiteQuality
SIO_000300: 2.522152e6

GenotypeQuality
all individuals: 903
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2477
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2784
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9474
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1504
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2235
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35835
bin: 9.75e1
variant carriers: 167

GenotypeQuality
all individuals: 128
bin: 3.75e1
variant carriers: 0

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

European (Finnish)
type: Population
allele count: 2
allele frequency: 3.036744609778318e-4
allele num: 6586
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.183431952662722e-4
allele num: 8450
num of homozygotes: 0

African
type: Population
allele count: 2
allele frequency: 1.964250638381458e-4
allele num: 10182
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.709284096847239e-5
allele num: 11482
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 161
allele frequency: 2.451950900063964e-3
allele num: 65662
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 5.836e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.95e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.75e-1

DP
type: SiteQuality
SIO_000300: 2.532873e6

MQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

QD
type: SiteQuality
SIO_000300: 1.792e1

GenotypeQuality
all individuals: 173
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 903
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2235
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 103
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 121
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1504
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35835
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2477
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2784
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2788
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 1
allele frequency: 9.821253191907288e-5
allele num: 10182
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16096
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65662
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8450
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.76e-1

MQ
type: SiteQuality
SIO_000300: 5.836e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

BaseQRankSum
type: SiteQuality
SIO_000300: 3.8e-1

DP
type: SiteQuality
SIO_000300: 2.532873e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.28e-1

QD
type: SiteQuality
SIO_000300: 1.792e1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.95e0

GenotypeQuality
all individuals: 2794
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2267
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 718
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35783
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1639
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 51
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10028
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2498
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.703220191470844e-5
allele num: 11490
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65920
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8476
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16356
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10210
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -3.46e-1

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.502e1

VQSLOD
type: SiteQuality
SIO_000300: 7.32e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.532583e6

BaseQRankSum
type: SiteQuality
SIO_000300: -8.635999999999999e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.44e-1

GenotypeQuality
all individuals: 38
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2903
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2494
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10205
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 616
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35787
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2796
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.026817603971185e-5
allele num: 66076
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10226
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 4.443e0

QD
type: SiteQuality
SIO_000300: 1.354e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.0e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.694e0

MQRankSum
type: SiteQuality
SIO_000300: 1.78e0

MQ
type: SiteQuality
SIO_000300: 5.962e1

DP
type: SiteQuality
SIO_000300: 2.535483e6

VQSLOD
type: SiteQuality
SIO_000300: 1.31e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.71e-1

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

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

GenotypeQuality
all individuals: 10217
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 608
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35790
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2267
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1639
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1534
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2910
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2496
bin: 8.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.539127277128851e-5
allele num: 66092
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16404
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11504
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10228
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8496
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.78e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.6e-2

DP
type: SiteQuality
SIO_000300: 2.535664e6

BaseQRankSum
type: SiteQuality
SIO_000300: 6.75e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.6e-2

QD
type: SiteQuality
SIO_000300: 1.474e1

MQ
type: SiteQuality
SIO_000300: 5.955e1

MQRankSum
type: SiteQuality
SIO_000300: 3.18e-1

GenotypeQuality
all individuals: 7
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 506
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10319
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1640
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1548
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2937
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35789
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2268
bin: 7.75e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.74089226573154e-5
allele num: 10266
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8506
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66242
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11518
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.38e0

DP
type: SiteQuality
SIO_000300: 2.538459e6

VQSLOD
type: SiteQuality
SIO_000300: -1.221e0

MQ
type: SiteQuality
SIO_000300: 5.978e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.677e0

QD
type: SiteQuality
SIO_000300: 1.475e1

FS
type: SiteQuality
SIO_000300: 1.0535e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.22e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 2499
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10375
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35790
bin: 9.75e1
variant carriers: 5

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

GenotypeQuality
all individuals: 2270
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 85
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1552
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 471
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2797
bin: 9.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10284
num of homozygotes: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66296
num of homozygotes: 0

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

East Asian
type: Population
allele count: 5
allele frequency: 5.872680291284943e-4
allele num: 8514
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.968e1

MQRankSum
type: SiteQuality
SIO_000300: 4.5e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.452e0

DP
type: SiteQuality
SIO_000300: 2.53957e6

QD
type: SiteQuality
SIO_000300: 1.214e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 5.05e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.4e-2

GenotypeQuality
all individuals: 71
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2929
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2798
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1555
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10288
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 35791
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2269
bin: 7.75e1
variant carriers: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8514
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.716284492809949e-5
allele num: 10292
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.524340954334319e-5
allele num: 66308
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11520
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.966e1

DP
type: SiteQuality
SIO_000300: 2.53935e6

FS
type: SiteQuality
SIO_000300: 1.148e0

MQRankSum
type: SiteQuality
SIO_000300: -3.5e-2

VQSLOD
type: SiteQuality
SIO_000300: 2.14e0

QD
type: SiteQuality
SIO_000300: 1.273e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.72e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.42e-1

GenotypeQuality
all individuals: 2259
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 15
bin: 7.5e0
variant carriers: 1

GenotypeQuality
all individuals: 420
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1641
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10211
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35778
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 8.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66244
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: 8520
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 7.22e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

DP
type: SiteQuality
SIO_000300: 2.542547e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

MQ
type: SiteQuality
SIO_000300: 5.969e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

GenotypeQuality
all individuals: 55
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 43
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2884
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10211
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2259
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2794
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
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: 6592
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.725734292939116e-5
allele num: 10282
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66244
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

DP
type: SiteQuality
SIO_000300: 2.542547e6

QD
type: SiteQuality
SIO_000300: 7.22e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.969e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

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

GenotypeQuality
all individuals: 35778
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2794
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1532
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 420
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2259
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1641
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2493
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 4.25e1
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: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8520
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66244
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.674531575294934e-5
allele num: 11528
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16484
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 7.22e0

MQRankSum
type: SiteQuality
SIO_000300: 2.03e-1

DP
type: SiteQuality
SIO_000300: 2.542547e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.76e-1

MQ
type: SiteQuality
SIO_000300: 5.969e1

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 3.77e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.6e-1

GenotypeQuality
all individuals: 74
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2503
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 86
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10310
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 35782
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2797
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 92
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2903
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1648
bin: 8.75e1
variant carriers: 0

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

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

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

African
type: Population
allele count: 3
allele frequency: 2.915451895043732e-4
allele num: 10290
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: 16488
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11526
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6596
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 1.166e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.94e-1

QD
type: SiteQuality
SIO_000300: 1.181e1

VQSLOD
type: SiteQuality
SIO_000300: 3.98e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.0e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.64e-1

DP
type: SiteQuality
SIO_000300: 2.542882e6

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

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

GenotypeQuality
all individuals: 1564
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10406
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 35795
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2511
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2937
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2273
bin: 7.75e1
variant carriers: 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: 6598
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.506250941406838e-5
allele num: 66390
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10310
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11528
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: 8540
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.99e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.1e-1

DP
type: SiteQuality
SIO_000300: 2.542102e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.24e0

VQSLOD
type: SiteQuality
SIO_000300: -7.129e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

FS
type: SiteQuality
SIO_000300: 1.318e0

BaseQRankSum
type: SiteQuality
SIO_000300: -9.4e-2

QD
type: SiteQuality
SIO_000300: 1.492e1

GenotypeQuality
all individuals: 68
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10399
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
bin: 7.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2945
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2801
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1564
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2510
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35794
bin: 9.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11536
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8552
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: 1.506069459923492e-5
allele num: 66398
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10316
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

QD
type: SiteQuality
SIO_000300: 1.452e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.51e0

VQSLOD
type: SiteQuality
SIO_000300: 5.51e-1

FS
type: SiteQuality
SIO_000300: 1.178e0

MQ
type: SiteQuality
SIO_000300: 5.99e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.06e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.56e0

MQRankSum
type: SiteQuality
SIO_000300: -7.05e-1

DP
type: SiteQuality
SIO_000300: 2.542474e6

GenotypeQuality
all individuals: 2945
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 69
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 54
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2801
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10432
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.21256214380987e-4
allele num: 16494
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.689922480620155e-5
allele num: 10320
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.667013347200555e-5
allele num: 11538
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.011594639361542e-5
allele num: 66410
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: 6600
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.63e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.53e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.06e0

QD
type: SiteQuality
SIO_000300: 1.343e1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.91e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

FS
type: SiteQuality
SIO_000300: 2.506e0

DP
type: SiteQuality
SIO_000300: 2.542897e6

GenotypeQuality
all individuals: 24
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 10454
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35794
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 78
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2509
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2954
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1647
bin: 8.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10318
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8560
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.505661286437003e-5
allele num: 66416
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 1.336e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

DP
type: SiteQuality
SIO_000300: 2.542809e6

VQSLOD
type: SiteQuality
SIO_000300: -4.339e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.16e-1

MQ
type: SiteQuality
SIO_000300: 5.882e1

QD
type: SiteQuality
SIO_000300: 1.339e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.767e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.4e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.139999999999999e-1

GenotypeQuality
all individuals: 77
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2272
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 305
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2956
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10491
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35794
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 20
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.010597302504817e-5
allele num: 66432
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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8572
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.5e-2

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.33e0

FS
type: SiteQuality
SIO_000300: 2.422e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.543449e6

ClippingRankSum
type: SiteQuality
SIO_000300: -2.83e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.57e0

QD
type: SiteQuality
SIO_000300: 1.526e1

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

GenotypeQuality
all individuals: 2948
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 68
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 298
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10409
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2512
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2274
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2801
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35794
bin: 9.75e1
variant carriers: 1

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11540
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66442
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: 8572
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: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.52e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.28e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.94e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.29e-1

DP
type: SiteQuality
SIO_000300: 2.543512e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-4

QD
type: SiteQuality
SIO_000300: 1.292e1

MQ
type: SiteQuality
SIO_000300: 5.91e1

GenotypeQuality
all individuals: 1575
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10446
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 284
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1648
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 62
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2272
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35795
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 4.25e1
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: 0
allele frequency: 0.0e0
allele num: 8576
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66440
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.680542110358181e-5
allele num: 10330
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 9.2e-2

FS
type: SiteQuality
SIO_000300: 3.343e0

DP
type: SiteQuality
SIO_000300: 2.54386e6

VQSLOD
type: SiteQuality
SIO_000300: -7.192e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.26e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.382e1

MQRankSum
type: SiteQuality
SIO_000300: -2.8e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.343e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 10636
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1648
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 210
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2518
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2972
bin: 6.75e1
variant carriers: 0

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

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

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8604
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006524157421605e-5
allele num: 66522
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.655011251514626e-5
allele num: 11554
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 2.77e0

MQ
type: SiteQuality
SIO_000300: 5.981e1

FS
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 2.546253e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -5.0e-2

MQRankSum
type: SiteQuality
SIO_000300: -2.0e-3

BaseQRankSum
type: SiteQuality
SIO_000300: -3.804e0

QD
type: SiteQuality
SIO_000300: 1.316e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-1

GenotypeQuality
all individuals: 35797
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1580
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2520
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10713
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1649
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 4.75e1
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: 11554
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 1
allele frequency: 1.502403846153846e-5
allele num: 66560
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8612
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10362
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.16e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.8e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.48e-1

QD
type: SiteQuality
SIO_000300: 1.512e1

DP
type: SiteQuality
SIO_000300: 2.546999e6

MQ
type: SiteQuality
SIO_000300: 6.039e1

FS
type: SiteQuality
SIO_000300: 1.094e0

MQRankSum
type: SiteQuality
SIO_000300: 4.48e-1

VQSLOD
type: SiteQuality
SIO_000300: 3.32e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.13e-1

GenotypeQuality
all individuals: 24
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2520
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 45
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 180
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10641
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2952
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35792
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1574
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2281
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66542
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10348
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11558
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 2.287e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.73e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 6.69e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.129e0

FS
type: SiteQuality
SIO_000300: 6.0074e1

MQRankSum
type: SiteQuality
SIO_000300: -1.7e-2

MQ
type: SiteQuality
SIO_000300: 5.805e1

VQSLOD
type: SiteQuality
SIO_000300: -1.862e1

DP
type: SiteQuality
SIO_000300: 2.548854e6

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

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

GenotypeQuality
all individuals: 10762
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 158
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2807
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 25
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2286
bin: 7.75e1
variant carriers: 0

European (Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 6610
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: 15
allele frequency: 1.447317637977615e-3
allele num: 10364
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66580
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.53e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.7e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.3e-1

MQRankSum
type: SiteQuality
SIO_000300: -1.2e-2

DP
type: SiteQuality
SIO_000300: 2.549136e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.284e1

MQ
type: SiteQuality
SIO_000300: 5.956e1

GenotypeQuality
all individuals: 22
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1650
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 144
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2526
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2808
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1578
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2288
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2980
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.64902266043937e-5
allele num: 11562
num of homozygotes: 0

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

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

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: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10368
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66590
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: -1.026e0

FS
type: SiteQuality
SIO_000300: 4.793e0

QD
type: SiteQuality
SIO_000300: 1.075e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.662e0

DP
type: SiteQuality
SIO_000300: 2.548848e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.6e-2

VQSLOD
type: SiteQuality
SIO_000300: 9.8e-3

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.77e-1

GenotypeQuality
all individuals: 10816
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1650
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2988
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2527
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35811
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1581
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 119
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 1
allele frequency: 9.637625289128758e-5
allele num: 10376
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66612
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: 908
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.75e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.728e0

DP
type: SiteQuality
SIO_000300: 2.549251e6

QD
type: SiteQuality
SIO_000300: 1.272e1

VQSLOD
type: SiteQuality
SIO_000300: -2.141e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.14e-1

FS
type: SiteQuality
SIO_000300: 5.874e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.776e0

MQ
type: SiteQuality
SIO_000300: 5.844e1

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

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

GenotypeQuality
all individuals: 19
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2289
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 1.75e1
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: 2990
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35810
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2809
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2527
bin: 8.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66628
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 6.65e0

DP
type: SiteQuality
SIO_000300: 2.549718e6

MQ
type: SiteQuality
SIO_000300: 6.006e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.02e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.368e1

FS
type: SiteQuality
SIO_000300: 5.620000000000001e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.21e0

MQRankSum
type: SiteQuality
SIO_000300: 4.2e-2

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

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

GenotypeQuality
all individuals: 1652
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2293
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2529
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 91
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35812
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2809
bin: 9.25e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

South Asian
type: Population
allele count: 3
allele frequency: 1.817300702689605e-4
allele num: 16508
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: 0
allele frequency: 0.0e0
allele num: 66654
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.550401e6

VQSLOD
type: SiteQuality
SIO_000300: -1.585e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.9e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.25e-1

QD
type: SiteQuality
SIO_000300: 1.252e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.07e-1

FS
type: SiteQuality
SIO_000300: 1.2924e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.676e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

GenotypeQuality
all individuals: 2294
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2529
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35810
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 10835
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2995
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1590
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 15
bin: 5.25e1
variant carriers: 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: 16510
num of homozygotes: 0

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

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500240038406145e-5
allele num: 66656
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.0e-3

VQSLOD
type: SiteQuality
SIO_000300: -4.155e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e0

MQRankSum
type: SiteQuality
SIO_000300: -3.07e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.253e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 9.28e-1

QD
type: SiteQuality
SIO_000300: 1.132e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.550428e6

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

GenotypeQuality
all individuals: 1652
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2292
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35813
bin: 9.75e1
variant carriers: 8

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

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

GenotypeQuality
all individuals: 86
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10825
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2808
bin: 9.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8644
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 8
allele frequency: 1.2001200120012e-4
allele num: 66660
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 3.96e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.13e0

MQ
type: SiteQuality
SIO_000300: 5.973e1

MQRankSum
type: SiteQuality
SIO_000300: -1.3e-1

FS
type: SiteQuality
SIO_000300: 2.448e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.63e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.35e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.550901e6

QD
type: SiteQuality
SIO_000300: 1.274e1

GenotypeQuality
all individuals: 11
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2531
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1656
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1588
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35812
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 2810
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3001
bin: 6.75e1
variant carriers: 0

African
type: Population
allele count: 3
allele frequency: 2.887391722810395e-4
allele num: 10390
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 66692
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.551338e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.98e0

FS
type: SiteQuality
SIO_000300: 1.129e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.47e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.95e1

QD
type: SiteQuality
SIO_000300: 1.166e1

MQRankSum
type: SiteQuality
SIO_000300: 4.61e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.611e0

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10762
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2809
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 7.75e1
variant carriers: 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: 906
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
num of homozygotes: 0

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

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

African
type: Population
allele count: 1
allele frequency: 9.619084263178146e-5
allele num: 10396
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -6.041e0

DP
type: SiteQuality
SIO_000300: 2.551288e6

MQ
type: SiteQuality
SIO_000300: 5.961e1

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

QD
type: SiteQuality
SIO_000300: 1.348e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

FS
type: SiteQuality
SIO_000300: 1.539e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

GenotypeQuality
all individuals: 14
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 75
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35812
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 33
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3004
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1593
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66698
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: 16510
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.64e-1

QD
type: SiteQuality
SIO_000300: 1.348e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.961e1

DP
type: SiteQuality
SIO_000300: 2.551288e6

FS
type: SiteQuality
SIO_000300: 1.539e0

BaseQRankSum
type: SiteQuality
SIO_000300: -6.041e0

VQSLOD
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 5.1e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.6e-1

GenotypeQuality
all individuals: 1591
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2287
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 83
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 49
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35854
bin: 9.75e1
variant carriers: 88

GenotypeQuality
all individuals: 2527
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10690
bin: 6.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 72
allele frequency: 4.36099333737129e-3
allele num: 16510
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

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

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.399088346428357e-4
allele num: 66692
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.288e1

DP
type: SiteQuality
SIO_000300: 2.555963e6

VQSLOD
type: SiteQuality
SIO_000300: 4.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

FS
type: SiteQuality
SIO_000300: 0.0e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

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

GenotypeQuality
all individuals: 83
bin: 2.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 42
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2287
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2527
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 9.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
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

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

South Asian
type: Population
allele count: 2
allele frequency: 1.211387038158692e-4
allele num: 16510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.87e0

DP
type: SiteQuality
SIO_000300: 2.555963e6

MQRankSum
type: SiteQuality
SIO_000300: 2.78e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.57e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.91e-1

MQ
type: SiteQuality
SIO_000300: 5.982e1

QD
type: SiteQuality
SIO_000300: 1.288e1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -8.599999999999999e-2

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

GenotypeQuality
all individuals: 2533
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2287
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2998
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1589
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35820
bin: 9.75e1
variant carriers: 17

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

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2805
bin: 9.25e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.640055296353897e-5
allele num: 11574
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 16
allele frequency: 2.399088346428357e-4
allele num: 66692
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: -1.87e-1

MQRankSum
type: SiteQuality
SIO_000300: 2.22e-1

DP
type: SiteQuality
SIO_000300: 2.552693e6

MQ
type: SiteQuality
SIO_000300: 5.966e1

BaseQRankSum
type: SiteQuality
SIO_000300: -8.81e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

QD
type: SiteQuality
SIO_000300: 1.319e1

VQSLOD
type: SiteQuality
SIO_000300: 5.23e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

GenotypeQuality
all individuals: 10703
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 24
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2290
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1654
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2999
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.998860433035446e-5
allele num: 66692
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 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: 906
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.7e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

QD
type: SiteQuality
SIO_000300: 1.314e1

MQ
type: SiteQuality
SIO_000300: 5.977e1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.42e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.65e-1

FS
type: SiteQuality
SIO_000300: 5.967e0

DP
type: SiteQuality
SIO_000300: 2.551881e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.3e-1

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1591
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10676
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2994
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2530
bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 8
allele frequency: 1.209555488358028e-3
allele num: 6614
num of homozygotes: 0

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

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

African
type: Population
allele count: 2
allele frequency: 1.92492781520693e-4
allele num: 10390
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.552407e6

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

FS
type: SiteQuality
SIO_000300: 5.18e-1

QD
type: SiteQuality
SIO_000300: 1.415e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

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

GenotypeQuality
all individuals: 2994
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1591
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 104
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1654
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35821
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22
bin: 4.25e1
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: 10390
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: 8654
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -4.97e-1

DP
type: SiteQuality
SIO_000300: 2.552407e6

BaseQRankSum
type: SiteQuality
SIO_000300: 1.3e0

VQSLOD
type: SiteQuality
SIO_000300: 3.8e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 5.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.415e1

MQRankSum
type: SiteQuality
SIO_000300: 3.47e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.85e-1

GenotypeQuality
all individuals: 35820
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 25
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1586
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 10722
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3001
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2805
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66682
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11572
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: 5
allele frequency: 5.777675063554426e-4
allele num: 8654
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 7.003e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.91e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.087e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.298e1

ClippingRankSum
type: SiteQuality
SIO_000300: -7.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -3.04e-1

DP
type: SiteQuality
SIO_000300: 2.552075e6

VQSLOD
type: SiteQuality
SIO_000300: 1.36e-1

GenotypeQuality
all individuals: 15
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 10698
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2986
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2534
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2294
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2809
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1584
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35820
bin: 9.75e1
variant carriers: 1

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

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: 1.499745043342632e-5
allele num: 66678
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 4.05e0

QD
type: SiteQuality
SIO_000300: 1.374e1

DP
type: SiteQuality
SIO_000300: 2.551603e6

MQRankSum
type: SiteQuality
SIO_000300: -1.23e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.135e0

MQ
type: SiteQuality
SIO_000300: 5.982e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.26e-1

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

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

GenotypeQuality
all individuals: 2535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2918
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35819
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 8
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2807
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.591568762957844e-4
allele num: 11576
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10364
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: 0
allele frequency: 0.0e0
allele num: 66604
num of homozygotes: 0

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

QD
type: SiteQuality
SIO_000300: 1.18e1

FS
type: SiteQuality
SIO_000300: 6.455e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.615e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

DP
type: SiteQuality
SIO_000300: 2.548883e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.26e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.24e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.54e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.43e-1

GenotypeQuality
all individuals: 10287
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1577
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2534
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2291
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 77
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 96
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2916
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35819
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2807
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.50159168718842e-5
allele num: 66596
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.629e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.91e0

VQSLOD
type: SiteQuality
SIO_000300: -2.572e-1

MQRankSum
type: SiteQuality
SIO_000300: -5.639999999999999e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.354e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.54851e6

FS
type: SiteQuality
SIO_000300: 1.957e0

QD
type: SiteQuality
SIO_000300: 1.388e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

GenotypeQuality
all individuals: 124
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 119
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 87
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2807
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 127
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2282
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 81
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35818
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1570
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2878
bin: 6.75e1
variant carriers: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
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: 16502
num of homozygotes: 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: 906
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10336
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 3.24e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.72e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

FS
type: SiteQuality
SIO_000300: 3.77e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.54e-1

DP
type: SiteQuality
SIO_000300: 2.547612e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.01e0

VQSLOD
type: SiteQuality
SIO_000300: 4.78e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.625e1

GenotypeQuality
all individuals: 10130
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 120
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 57
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2875
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2806
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 35819
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 130
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 8.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66554
num of homozygotes: 0

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: 10336
num of homozygotes: 0

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

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 3.266e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.34e0

QD
type: SiteQuality
SIO_000300: 1.076e1

MQ
type: SiteQuality
SIO_000300: 5.961e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.63e-1

DP
type: SiteQuality
SIO_000300: 2.547451e6

ClippingRankSum
type: SiteQuality
SIO_000300: 7.58e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -4.06e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.11e0

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

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 115
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 323
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2535
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35821
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 1569
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 124
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2806
bin: 9.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 904
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: 9
allele frequency: 1.352651196344836e-4
allele num: 66536
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16492
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.674922600619196e-5
allele num: 10336
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.071e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.83e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.01e0

FS
type: SiteQuality
SIO_000300: 5.26e-1

MQ
type: SiteQuality
SIO_000300: 5.966e1

MQRankSum
type: SiteQuality
SIO_000300: 6.05e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.379999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.547958e6

ClippingRankSum
type: SiteQuality
SIO_000300: -1.068e0

GenotypeQuality
all individuals: 1570
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2890
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 129
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 56
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10273
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 16
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 88
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2538
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1655
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2805
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 2
allele frequency: 1.213297743266198e-4
allele num: 16484
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: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66560
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 7.25e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.98e-1

DP
type: SiteQuality
SIO_000300: 2.547164e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: 9.72e-1

FS
type: SiteQuality
SIO_000300: 5.52e-1

MQRankSum
type: SiteQuality
SIO_000300: 5.37e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.352e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

QD
type: SiteQuality
SIO_000300: 1.087e1

GenotypeQuality
all individuals: 1656
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2804
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35829
bin: 9.75e1
variant carriers: 7

GenotypeQuality
all individuals: 1566
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2862
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 111
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2284
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10010
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 100
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2537
bin: 8.25e1
variant carriers: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 906
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: 0
allele frequency: 0.0e0
allele num: 66536
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: 2
allele frequency: 1.933114247052001e-4
allele num: 10346
num of homozygotes: 0

South Asian
type: Population
allele count: 5
allele frequency: 3.036560184622859e-4
allele num: 16466
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.67e0

MQ
type: SiteQuality
SIO_000300: 5.98e1

QD
type: SiteQuality
SIO_000300: 1.328e1

FS
type: SiteQuality
SIO_000300: 3.246e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.199999999999999e-2

MQRankSum
type: SiteQuality
SIO_000300: -4.23e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.1e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.29e-1

DP
type: SiteQuality
SIO_000300: 2.546335e6

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

GenotypeQuality
all individuals: 1565
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 409
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35827
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 115
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2805
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1656
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2538
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 110
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 102
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 4.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66538
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: 2
allele frequency: 1.727712508638562e-4
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

South Asian
type: Population
allele count: 1
allele frequency: 6.073120369245719e-5
allele num: 16466
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10350
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.37e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.387e1

MQRankSum
type: SiteQuality
SIO_000300: 4.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.21e0

BaseQRankSum
type: SiteQuality
SIO_000300: 7.59e-1

DP
type: SiteQuality
SIO_000300: 2.546235e6

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.12e0

GenotypeQuality
all individuals: 1656
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 98
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 89
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2540
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 454
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35830
bin: 9.75e1
variant carriers: 12

GenotypeQuality
all individuals: 2851
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2285
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16450
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66480
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10340
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: 12
allele frequency: 1.386962552011096e-3
allele num: 8652
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.2e-2

QD
type: SiteQuality
SIO_000300: 1.032e1

VQSLOD
type: SiteQuality
SIO_000300: 8.64e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.39e-1

DP
type: SiteQuality
SIO_000300: 2.545404e6

FS
type: SiteQuality
SIO_000300: 1.756e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.6e-2

MQ
type: SiteQuality
SIO_000300: 5.965e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

GenotypeQuality
all individuals: 75
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1554
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 118
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2837
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 1653
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2283
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35850
bin: 9.75e1
variant carriers: 53

GenotypeQuality
all individuals: 10137
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.25e1
variant carriers: 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: 0
allele frequency: 0.0e0
allele num: 66464
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16434
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: 906
num of homozygotes: 0

African
type: Population
allele count: 53
allele frequency: 5.126716966531244e-3
allele num: 10338
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

DP
type: SiteQuality
SIO_000300: 2.546345e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.104e0

VQSLOD
type: SiteQuality
SIO_000300: 2.62e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.33e-1

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.14e-1

FS
type: SiteQuality
SIO_000300: 5.23e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.5e-2

QD
type: SiteQuality
SIO_000300: 1.202e1

GenotypeQuality
all individuals: 2256
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 179
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35830
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2532
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2729
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9668
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1528
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
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: 66334
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.165228113440197e-5
allele num: 16220
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: 902
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 4.71e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

QD
type: SiteQuality
SIO_000300: 1.271e1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

FS
type: SiteQuality
SIO_000300: 1.714e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

MQ
type: SiteQuality
SIO_000300: 5.943e1

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

DP
type: SiteQuality
SIO_000300: 2.53787e6

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 150
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2256
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 70
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1652
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 112
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9668
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.466091245376079e-4
allele num: 16220
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: 11570
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66334
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

DP
type: SiteQuality
SIO_000300: 2.53787e6

MQRankSum
type: SiteQuality
SIO_000300: 1.33e0

MQ
type: SiteQuality
SIO_000300: 5.943e1

QD
type: SiteQuality
SIO_000300: 1.271e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.97e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.79e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.71e-1

FS
type: SiteQuality
SIO_000300: 1.714e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

GenotypeQuality
all individuals: 2532
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2801
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 175
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35830
bin: 9.75e1
variant carriers: 4

GenotypeQuality
all individuals: 158
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1652
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 86
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9700
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2261
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1529
bin: 7.25e1
variant carriers: 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: 1
allele frequency: 1.507477086348288e-5
allele num: 66336
num of homozygotes: 0

East Asian
type: Population
allele count: 3
allele frequency: 3.467406380027739e-4
allele num: 8652
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16212
num of homozygotes: 0

MQRankSum
type: SiteQuality
SIO_000300: 1.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 9.62e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.21e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.123e0

VQSLOD
type: SiteQuality
SIO_000300: 1.22e0

DP
type: SiteQuality
SIO_000300: 2.536675e6

MQ
type: SiteQuality
SIO_000300: 5.987e1

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.158e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

GenotypeQuality
all individuals: 1061
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2802
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 80
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 170
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1524
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9581
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35833
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 50
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1651
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2530
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2251
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 103
bin: 3.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16156
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.539203860072376e-5
allele num: 66320
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10324
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

FS
type: SiteQuality
SIO_000300: 5.617e0

DP
type: SiteQuality
SIO_000300: 2.535296e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.627e0

MQ
type: SiteQuality
SIO_000300: 5.963e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.02e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.82e0

MQRankSum
type: SiteQuality
SIO_000300: -2.9e-2

QD
type: SiteQuality
SIO_000300: 1.174e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.35e-1

GenotypeQuality
all individuals: 2588
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 398
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 128
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 363
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2055
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2237
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35831
bin: 9.75e1
variant carriers: 1

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66096
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.380806533945891e-5
allele num: 15672
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.01e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.0e-2

FS
type: SiteQuality
SIO_000300: 5.882e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.82e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.03e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -2.465e0

DP
type: SiteQuality
SIO_000300: 2.516158e6

MQRankSum
type: SiteQuality
SIO_000300: 1.14e0

QD
type: SiteQuality
SIO_000300: 2.356e1

GenotypeQuality
all individuals: 1651
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2078
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2583
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 364
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2521
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 91
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8222
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2803
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 389
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 35830
bin: 9.75e1
variant carriers: 3

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

South Asian
type: Population
allele count: 1
allele frequency: 6.375111564452378e-5
allele num: 15686
num of homozygotes: 0

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10282
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.515891e6

FS
type: SiteQuality
SIO_000300: 1.572e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.47e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.53e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.11e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.62e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.0e0

QD
type: SiteQuality
SIO_000300: 9.529999999999999e0