2-85581679-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85581679
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85581679
    reference: chr 2
allele count: 4
allele frequency: 3.687519589947821e-5
allele num: 108474
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000042445
  ensembl protein: ENSP00000295802
  ensembl transcript: ENST00000295802
  gene symbol: RETSAT
  hgvsc: ENST00000295802.4:c.-49G>A
  variant of: http://identifiers.org/hgnc/25991
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000462396
  gene symbol: ELMOD3
  hgvsc: ENST00000462396.1:n.163C>T
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 4115
  bin: 4.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 5787
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3803
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2932
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 170
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8190
  bin: 3.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1456
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4102
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2044
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9545
  bin: 3.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 356
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8438
  bin: 2.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 21
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 33
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 79
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2553
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 718
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6101
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 72
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 42
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1111
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1280
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2010
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2364
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1136
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2146
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1188
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 7647
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 13395
  bin: 9.75e1
  variant carriers: 4
genotype quality: GenotypeQuality
  all individuals: 386
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1773
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2935
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4341
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1981
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 1823
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 387
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 4948
  bin: 6.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 2499
  bin: 7.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3911
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
  all individuals: 3296
  bin: 9.25e1
  variant carriers: 0
num of homozygotes: 0
population: European (Finnish)
  type: Population
  allele count: 0
  allele frequency: 0.0e0
  allele num: 6474
  num of homozygotes: 0
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
population: European (Non-Finnish)
reference allele: C
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: FS
site quality: InbreedingCoeff

2-85584277-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584277
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584277
    reference: chr 2
allele count: 1
allele frequency: 8.442095665828085e-6
allele num: 118454
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.-45T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1438T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.-45T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.-45T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.-45T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.-45T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.-45T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.-45T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.-45T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.-45T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.-45T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.-45T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.-45T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.496T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.-45T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.293T>C
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1284
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5027
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 80
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10920
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4218
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9829
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum

2-85584286-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584286
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584286
    reference: chr 2
allele count: 2
allele frequency: 1.683558368968652e-5
allele num: 118796
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.-36A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.-36A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.-36A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.-36A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.-36A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.-36A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.-36A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.-36A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.505A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.-36A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.302A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.-36A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1447A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.-36A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.-36A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.-36A>G
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 49
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 537
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1197
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 13840
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10429
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4134
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 728
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 203
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Other
reference allele: A
site quality: DP
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/2-85584287-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584287
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584287
    reference: chr 2
allele count: 1
allele frequency: 8.419492809753141e-6
allele num: 118772
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.-35A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.-35A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.506A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.-35A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.-35A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.-35A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.-35A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.-35A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.-35A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.-35A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.-35A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.-35A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.303A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.-35A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1448A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.-35A>C
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1221
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2265
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11579
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13961
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: QD
site quality: ClippingRankSum

2-85584287-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584287
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584287
    reference: chr 2
allele count: 5
allele frequency: 4.20974640487657e-5
allele num: 118772
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.-35A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.-35A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.-35A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.-35A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.-35A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.-35A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.-35A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.-35A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.506A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.-35A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.303A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.-35A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.-35A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1448A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.-35A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.-35A>G
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10472
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4136
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7004
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1721
  bin: 1.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 13961
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1186
  bin: 7.5e0
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/2-85584306-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584306
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584306
    reference: chr 2
allele count: 1
allele frequency: 8.348778573694668e-6
allele num: 119778
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.-16C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.-16C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.-16C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.-16C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.-16C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1467C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.-16C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.-16C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.-16C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.-16C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.-16C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.-16C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.525C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.322C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.-16C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.-16C>A
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10902
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12738
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 539
  bin: 6.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 379
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 15
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 151
  bin: 8.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: Other
population: East Asian
population: Latino
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

2-85584314-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584314
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584314
    reference: chr 2
allele count: 1
allele frequency: 8.317806760713336e-6
allele num: 120224
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1475T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.-8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.-8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.-8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.-8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.-8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.-8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.-8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.533T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.-8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.330T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.-8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.-8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.-8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.-8T>C
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 727
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 538
  bin: 6.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff

2-85584315-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584315
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584315
    reference: chr 2
allele count: 2
allele frequency: 1.66267624368183e-5
allele num: 120288
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.-7T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.-7T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.-7T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.-7T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.-7T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.-7T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.-7T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.-7T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.-7T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.-7T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.-7T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.-7T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.-7T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.-7T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1476T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.534T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.331T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.-7T>C
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 554
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: Other
population: African
population: South Asian
population: European (Non-Finnish)
reference allele: T
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP

2-85584315-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584315
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584315
    reference: chr 2
allele count: 1
allele frequency: 8.313381218409152e-6
allele num: 120288
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.-7T>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.-7T>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.-7T>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.-7T>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.-7T>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.-7T>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.534T>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.-7T>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.-7T>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.-7T>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.-7T>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.-7T>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.-7T>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1476T>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.-7T>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.-7T>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.331T>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.-7T>G
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 253
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 4146
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 2270
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 8
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
population: African
population: South Asian
reference allele: T
site quality: MQ
site quality: QD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum

2-85584319-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584319
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584319
    reference: chr 2
allele count: 1
allele frequency: 8.300270588821196e-6
allele num: 120478
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.335G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.-3G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.-3G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.-3G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.-3G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.-3G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.-3G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.-3G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.-3G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1480G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.-3G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.-3G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.-3G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.538G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.-3G>A
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: 5' UTR
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 16857
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7052
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 411
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1222
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: African
population: East Asian
population: Other
reference allele: G
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum

2-85584338-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584338
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584338
    reference: chr 2
allele count: 1
allele frequency: 8.265009256810368e-6
allele num: 120992
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.17G>C
  hgvsp: ENSP00000387139.3:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.17G>C
  hgvsp: ENSP00000318264.7:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.17G>C
  hgvsp: ENSP00000398264.1:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.17G>C
  hgvsp: ENSP00000394774.1:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.17G>C
  hgvsp: ENSP00000377434.4:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.17G>C
  hgvsp: ENSP00000393443.1:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.17G>C
  hgvsp: ENSP00000386257.2:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.17G>C
  hgvsp: ENSP00000436715.2:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.17G>C
  hgvsp: ENSP00000407599.3:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.17G>C
  hgvsp: ENSP00000401984.2:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.17G>C
  hgvsp: ENSP00000386248.3:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.17G>C
  hgvsp: ENSP00000408745.3:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.17G>C
  hgvsp: ENSP00000408329.1:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.17G>C
  hgvsp: ENSP00000386304.2:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.17G>C
  hgvsp: ENSP00000412692.2:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.17G>C
  hgvsp: ENSP00000387134.1:p.Cys6Ser
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.354G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.557G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1499G>C
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Cys6Ser
num of homozygotes: 0
population: Other
population: European (Finnish)
population: Latino
population: East Asian
population: South Asian
population: African
population: European (Non-Finnish)
reference allele: G
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: QD

2-85584341-C-CTTT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584341
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584344
    reference: chr 2
allele count: 2
allele frequency: 1.652046059044126e-5
allele num: 121062
alternate allele: CTTT
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.21_23dupTTT
  hgvsp: ENSP00000393443.1:p.Phe8dup
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.21_23dupTTT
  hgvsp: ENSP00000436715.2:p.Phe8dup
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.21_23dupTTT
  hgvsp: ENSP00000408329.1:p.Phe8dup
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1503_266+1505dupTTT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.21_23dupTTT
  hgvsp: ENSP00000387139.3:p.Phe8dup
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.21_23dupTTT
  hgvsp: ENSP00000394774.1:p.Phe8dup
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.561_563dupTTT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.21_23dupTTT
  hgvsp: ENSP00000407599.3:p.Phe8dup
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.21_23dupTTT
  hgvsp: ENSP00000377434.4:p.Phe8dup
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.21_23dupTTT
  hgvsp: ENSP00000386248.3:p.Phe8dup
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.21_23dupTTT
  hgvsp: ENSP00000408745.3:p.Phe8dup
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.358_360dupTTT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.21_23dupTTT
  hgvsp: ENSP00000401984.2:p.Phe8dup
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.21_23dupTTT
  hgvsp: ENSP00000387134.1:p.Phe8dup
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.21_23dupTTT
  hgvsp: ENSP00000386304.2:p.Phe8dup
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.21_23dupTTT
  hgvsp: ENSP00000386257.2:p.Phe8dup
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.21_23dupTTT
  hgvsp: ENSP00000412692.2:p.Phe8dup
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: inframe_insertion
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.21_23dupTTT
  hgvsp: ENSP00000318264.7:p.Phe8dup
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: inframe_insertion
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.21_23dupTTT
  hgvsp: ENSP00000398264.1:p.Phe8dup
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: inframe insertion
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe8dup
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: ReadPosRankSum
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD

2-85584347-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584347
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584347
    reference: chr 2
allele count: 1
allele frequency: 8.258047467256841e-6
allele num: 121094
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.26A>G
  hgvsp: ENSP00000318264.7:p.His9Arg
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1508A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.26A>G
  hgvsp: ENSP00000408329.1:p.His9Arg
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.26A>G
  hgvsp: ENSP00000401984.2:p.His9Arg
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.26A>G
  hgvsp: ENSP00000436715.2:p.His9Arg
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.26A>G
  hgvsp: ENSP00000408745.3:p.His9Arg
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.26A>G
  hgvsp: ENSP00000386257.2:p.His9Arg
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.26A>G
  hgvsp: ENSP00000386248.3:p.His9Arg
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.26A>G
  hgvsp: ENSP00000386304.2:p.His9Arg
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.26A>G
  hgvsp: ENSP00000393443.1:p.His9Arg
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.26A>G
  hgvsp: ENSP00000387134.1:p.His9Arg
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.26A>G
  hgvsp: ENSP00000377434.4:p.His9Arg
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.26A>G
  hgvsp: ENSP00000394774.1:p.His9Arg
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.26A>G
  hgvsp: ENSP00000407599.3:p.His9Arg
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.363A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.26A>G
  hgvsp: ENSP00000412692.2:p.His9Arg
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.26A>G
  hgvsp: ENSP00000387139.3:p.His9Arg
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.566A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.26A>G
  hgvsp: ENSP00000398264.1:p.His9Arg
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His9Arg
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: A
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: QD

2-85584358-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584358
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584358
    reference: chr 2
allele count: 1
allele frequency: 8.256411103221652e-6
allele num: 121118
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.37G>A
  hgvsp: ENSP00000377434.4:p.Glu13Lys
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.374G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.37G>A
  hgvsp: ENSP00000387139.3:p.Glu13Lys
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.37G>A
  hgvsp: ENSP00000398264.1:p.Glu13Lys
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.37G>A
  hgvsp: ENSP00000318264.7:p.Glu13Lys
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.37G>A
  hgvsp: ENSP00000408745.3:p.Glu13Lys
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.577G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.37G>A
  hgvsp: ENSP00000394774.1:p.Glu13Lys
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.37G>A
  hgvsp: ENSP00000386248.3:p.Glu13Lys
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.37G>A
  hgvsp: ENSP00000407599.3:p.Glu13Lys
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.37G>A
  hgvsp: ENSP00000408329.1:p.Glu13Lys
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.37G>A
  hgvsp: ENSP00000386304.2:p.Glu13Lys
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.37G>A
  hgvsp: ENSP00000436715.2:p.Glu13Lys
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.37G>A
  hgvsp: ENSP00000393443.1:p.Glu13Lys
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.37G>A
  hgvsp: ENSP00000387134.1:p.Glu13Lys
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.37G>A
  hgvsp: ENSP00000386257.2:p.Glu13Lys
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.37G>A
  hgvsp: ENSP00000412692.2:p.Glu13Lys
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1519G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.37G>A
  hgvsp: ENSP00000401984.2:p.Glu13Lys
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu13Lys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum

2-85584364-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584364
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584364
    reference: chr 2
allele count: 1
allele frequency: 8.256820133430213e-6
allele num: 121112
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.43A>G
  hgvsp: ENSP00000377434.4:p.Arg15Gly
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.43A>G
  hgvsp: ENSP00000408329.1:p.Arg15Gly
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.43A>G
  hgvsp: ENSP00000387134.1:p.Arg15Gly
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.43A>G
  hgvsp: ENSP00000401984.2:p.Arg15Gly
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.43A>G
  hgvsp: ENSP00000386248.3:p.Arg15Gly
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.43A>G
  hgvsp: ENSP00000387139.3:p.Arg15Gly
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.43A>G
  hgvsp: ENSP00000436715.2:p.Arg15Gly
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.583A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.43A>G
  hgvsp: ENSP00000407599.3:p.Arg15Gly
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.43A>G
  hgvsp: ENSP00000408745.3:p.Arg15Gly
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.43A>G
  hgvsp: ENSP00000318264.7:p.Arg15Gly
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.43A>G
  hgvsp: ENSP00000386257.2:p.Arg15Gly
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.43A>G
  hgvsp: ENSP00000394774.1:p.Arg15Gly
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.43A>G
  hgvsp: ENSP00000386304.2:p.Arg15Gly
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.43A>G
  hgvsp: ENSP00000393443.1:p.Arg15Gly
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.43A>G
  hgvsp: ENSP00000412692.2:p.Arg15Gly
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.43A>G
  hgvsp: ENSP00000398264.1:p.Arg15Gly
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1525A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.380A>G
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg15Gly
num of homozygotes: 0
population: East Asian
population: African
population: South Asian
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum

2-85584365-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584365
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584365
    reference: chr 2
allele count: 1
allele frequency: 8.25695648583932e-6
allele num: 121110
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.584G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.44G>T
  hgvsp: ENSP00000401984.2:p.Arg15Ile
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.44G>T
  hgvsp: ENSP00000386257.2:p.Arg15Ile
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.44G>T
  hgvsp: ENSP00000393443.1:p.Arg15Ile
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.44G>T
  hgvsp: ENSP00000398264.1:p.Arg15Ile
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.44G>T
  hgvsp: ENSP00000386304.2:p.Arg15Ile
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.44G>T
  hgvsp: ENSP00000408745.3:p.Arg15Ile
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1526G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.44G>T
  hgvsp: ENSP00000387139.3:p.Arg15Ile
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.44G>T
  hgvsp: ENSP00000394774.1:p.Arg15Ile
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.44G>T
  hgvsp: ENSP00000386248.3:p.Arg15Ile
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.44G>T
  hgvsp: ENSP00000408329.1:p.Arg15Ile
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.44G>T
  hgvsp: ENSP00000436715.2:p.Arg15Ile
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.44G>T
  hgvsp: ENSP00000412692.2:p.Arg15Ile
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.44G>T
  hgvsp: ENSP00000407599.3:p.Arg15Ile
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.44G>T
  hgvsp: ENSP00000377434.4:p.Arg15Ile
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.44G>T
  hgvsp: ENSP00000387134.1:p.Arg15Ile
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.381G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.44G>T
  hgvsp: ENSP00000318264.7:p.Arg15Ile
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg15Ile
num of homozygotes: 0
population: South Asian
population: East Asian
population: African
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-85584375-G-GTTAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584375
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584379
    reference: chr 2
allele count: 1
allele frequency: 8.260366760284156e-6
allele num: 121060
alternate allele: GTTAC
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.54_54+1insTTAC
  hgvsp: ENSP00000436715.2:p.Gly19LeufsTer3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.54_54+1insTTAC
  hgvsp: ENSP00000393443.1:p.Gly19LeufsTer3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.54_54+1insTTAC
  hgvsp: ENSP00000398264.1:p.Gly19LeufsTer3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.54_54+1insTTAC
  hgvsp: ENSP00000386257.2:p.Gly19LeufsTer3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.54_54+1insTTAC
  hgvsp: ENSP00000407599.3:p.Gly19LeufsTer3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.54_54+1insTTAC
  hgvsp: ENSP00000386248.3:p.Gly19LeufsTer3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.594_595insTTAC
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.54_54+1insTTAC
  hgvsp: ENSP00000387134.1:p.Gly19LeufsTer3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1536_266+1537insTTAC
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.54_54+1insTTAC
  hgvsp: ENSP00000377434.4:p.Gly19LeufsTer3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.54_54+1insTTAC
  hgvsp: ENSP00000401984.2:p.Gly19LeufsTer3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.391_391+1insTTAC
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.54_54+1insTTAC
  hgvsp: ENSP00000387139.3:p.Gly19LeufsTer3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.54_54+1insTTAC
  hgvsp: ENSP00000408329.1:p.Gly19LeufsTer3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.54_54+1insTTAC
  hgvsp: ENSP00000318264.7:p.Gly19LeufsTer3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.54_54+1insTTAC
  hgvsp: ENSP00000394774.1:p.Gly19LeufsTer3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.54_54+1insTTAC
  hgvsp: ENSP00000386304.2:p.Gly19LeufsTer3
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly19LeufsTer3
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: South Asian
population: Other
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-85584379-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584379
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584379
    reference: chr 2
allele count: 1
allele frequency: 8.263370132874991e-6
allele num: 121016
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.54+4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.54+4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1540A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.54+4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.54+4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.54+4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.54+4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.54+4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.54+4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.598A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.54+4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.391+4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.54+4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.54+4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.54+4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.54+4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.54+4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.54+4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.54+4A>C
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.54+4A>C
num of homozygotes: 0
population: East Asian
population: European (Non-Finnish)
population: African
population: Other
population: European (Finnish)
population: Latino
population: South Asian
reference allele: A
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD

2-85584380-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584380
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584380
    reference: chr 2
allele count: 2
allele frequency: 1.652837922713299e-5
allele num: 121004
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.54+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.54+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.54+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.54+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.391+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.54+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.54+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.54+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.54+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.54+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.54+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.54+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.54+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.54+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.54+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1541G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.54+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.599G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.54+5G>A
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.54+5G>A
num of homozygotes: 0
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: MQ
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: MQRankSum
site quality: ReadPosRankSum

2-85584383-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584383
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584383
    reference: chr 2
allele count: 1
allele frequency: 8.267195767195768e-6
allele num: 120960
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.391+8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.54+8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.54+8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1544T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.54+8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.54+8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.54+8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.54+8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.54+8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.54+8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.602T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.54+8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.54+8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.54+8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.54+8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.54+8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.54+8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.54+8T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.54+8T>C
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.54+8T>C
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: QD
site quality: FS
site quality: MQ
site quality: DP
site quality: MQRankSum

2-85584384-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584384
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584384
    reference: chr 2
allele count: 1
allele frequency: 8.266785708380868e-6
allele num: 120966
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.54+9G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.54+9G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.54+9G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.54+9G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.54+9G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.54+9G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.54+9G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.603G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.54+9G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.391+9G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.54+9G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.54+9G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.54+9G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1545G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.54+9G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.54+9G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.54+9G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.54+9G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.54+9G>T
  variant of: http://identifiers.org/hgnc/26158
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 204
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 520
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Other
population: European (Finnish)
population: African
population: Latino
population: South Asian
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQRankSum
site quality: BaseQRankSum

2-85584388-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584388
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584388
    reference: chr 2
allele count: 1
allele frequency: 8.271435424903638e-6
allele num: 120898
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.54+13T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.54+13T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.54+13T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.54+13T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.391+13T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1549T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.54+13T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.54+13T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.54+13T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.54+13T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.607T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.54+13T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.54+13T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.54+13T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.54+13T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.54+13T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.54+13T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.54+13T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.54+13T>C
  variant of: http://identifiers.org/hgnc/26158
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 247
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 250
  bin: 1.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: Other
population: African
reference allele: T
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: FS
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum

2-85584389-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584389
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584389
    reference: chr 2
allele count: 32
allele frequency: 2.647297274938368e-4
allele num: 120878
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1550C>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.391+14C>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.608C>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.54+14C>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.54+14C>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.54+14C>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.54+14C>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.54+14C>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.54+14C>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.54+14C>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.54+14C>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.54+14C>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.54+14C>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.54+14C>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.54+14C>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.54+14C>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.54+14C>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.54+14C>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.54+14C>T
  variant of: http://identifiers.org/hgnc/26158
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 11025
  bin: 3.25e1
  variant carriers: 4
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: African
population: South Asian
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum

2-85584398-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584398
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584398
    reference: chr 2
allele count: 1
allele frequency: 8.280750567231414e-6
allele num: 120762
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.54+23G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1559G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.54+23G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.617G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.391+23G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.54+23G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.54+23G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.54+23G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.54+23G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.54+23G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.54+23G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.54+23G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.54+23G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.54+23G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.54+23G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.54+23G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.54+23G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.54+23G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.54+23G>A
  variant of: http://identifiers.org/hgnc/26158
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 15159
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 292
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: African
population: Latino
population: Other
reference allele: G
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum

2-85584401-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584401
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584401
    reference: chr 2
allele count: 2
allele frequency: 1.656506758547575e-5
allele num: 120736
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.54+26A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.54+26A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.620A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.54+26A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.54+26A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.54+26A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.54+26A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.54+26A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.54+26A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.54+26A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.54+26A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.54+26A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.54+26A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.54+26A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.391+26A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.54+26A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.54+26A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.54+26A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1562A>G
  variant of: http://identifiers.org/hgnc/26158
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 171
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 14882
  bin: 2.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Other
population: European (Finnish)
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: QD
site quality: DP
site quality: MQ

2-85584412-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584412
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584412
    reference: chr 2
allele count: 1
allele frequency: 8.298204268596276e-6
allele num: 120508
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.54+37G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.54+37G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.54+37G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.54+37G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.54+37G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.54+37G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.54+37G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.54+37G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.54+37G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1573G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.54+37G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.54+37G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.54+37G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.391+37G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.54+37G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.631G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.54+37G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.54+37G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.54+37G>A
  variant of: http://identifiers.org/hgnc/26158
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1224
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 41
  bin: 2.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-85584414-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584414
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584414
    reference: chr 2
allele count: 1
allele frequency: 8.304406317992327e-6
allele num: 120418
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1575T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.54+39T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.54+39T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.54+39T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.54+39T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.54+39T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.54+39T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.54+39T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.391+39T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.54+39T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.54+39T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.54+39T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.54+39T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.633T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.54+39T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.54+39T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.54+39T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.54+39T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.54+39T>A
  variant of: http://identifiers.org/hgnc/26158
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 3772
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 12457
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: South Asian
reference allele: T
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: DP

2-85584419-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85584419
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85584419
    reference: chr 2
allele count: 2
allele frequency: 1.665057111458923e-5
allele num: 120116
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.54+44A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.54+44A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.54+44A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.54+44A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.54+44A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.54+44A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.266+1580A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.54+44A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.54+44A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.54+44A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000466467
  gene symbol: ELMOD3
  hgvsc: ENST00000466467.1:n.638A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.54+44A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.54+44A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.391+44A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.54+44A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.54+44A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.54+44A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.54+44A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.54+44A>G
  variant of: http://identifiers.org/hgnc/26158
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 150
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 172
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: Other
population: East Asian
population: African
reference allele: A
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD

2-85589260-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589260
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589260
    reference: chr 2
allele count: 1
allele frequency: 8.256274768824306e-6
allele num: 121120
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.55-49T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.55-49T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.392-49T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.55-49T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.55-49T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.55-49T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.55-49T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.55-49T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.55-49T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.55-49T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.55-49T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.55-49T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.55-49T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.267-49T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.55-49T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.55-49T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.55-49T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.55-49T>C
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 628
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 5638
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10099
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Non-Finnish)
population: East Asian
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: T
site quality: QD
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

2-85589264-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589264
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589264
    reference: chr 2
allele count: 5
allele frequency: 4.127728428491233e-5
allele num: 121132
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.55-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.55-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.392-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.55-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.55-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.55-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.55-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.55-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.55-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.267-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.55-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.55-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.55-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.55-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.55-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.55-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.55-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.55-45G>A
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1740
  bin: 5.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 2705
  bin: 5.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 441
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7152
  bin: 4.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: G
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ

2-85589266-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589266
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589266
    reference: chr 2
allele count: 7
allele frequency: 5.777388950330962e-5
allele num: 121162
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.392-43G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.55-43G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.55-43G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.55-43G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.55-43G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.267-43G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.55-43G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.55-43G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.55-43G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.55-43G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.55-43G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.55-43G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.55-43G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.55-43G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.55-43G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.55-43G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.55-43G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.55-43G>T
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 6328
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 527
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1097
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1741
  bin: 5.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: VQSLOD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum

2-85589270-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589270
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589270
    reference: chr 2
allele count: 1
allele frequency: 8.251642076773278e-6
allele num: 121188
alternate allele: G
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.55-39A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.55-39A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.55-39A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.55-39A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.267-39A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.55-39A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.55-39A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.55-39A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.55-39A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.55-39A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.55-39A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.392-39A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.55-39A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.55-39A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.55-39A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.55-39A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.55-39A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.55-39A>G
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10410
  bin: 3.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Other
population: South Asian
population: Latino
population: African
population: European (Non-Finnish)
reference allele: A
site quality: MQ
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: QD
site quality: DP

2-85589287-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589287
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589287
    reference: chr 2
allele count: 2
allele frequency: 1.648424106554134e-5
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.55-22T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.55-22T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.55-22T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.55-22T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.55-22T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.55-22T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.55-22T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.392-22T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.55-22T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.55-22T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.55-22T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.55-22T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.55-22T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.55-22T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.55-22T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.55-22T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.55-22T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.267-22T>C
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 784
  bin: 6.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1092
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 627
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 498
  bin: 8.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: Other
population: East Asian
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

2-85589294-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589294
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589294
    reference: chr 2
allele count: 4
allele frequency: 3.296033224014898e-5
allele num: 121358
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.55-15T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.55-15T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.55-15T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.55-15T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.55-15T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.55-15T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.267-15T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.55-15T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.55-15T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.55-15T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.55-15T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.392-15T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.55-15T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.55-15T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.55-15T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.55-15T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.55-15T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.55-15T>C
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 783
  bin: 6.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23
  bin: 1.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 528
  bin: 7.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 7181
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
reference allele: T
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD

http://identifiers.org/exac.variant/2-85589305-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589305
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589305
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.55-4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.55-4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.55-4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.55-4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.55-4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.55-4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.55-4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.55-4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.55-4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.55-4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.55-4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.55-4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.55-4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.392-4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.55-4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.55-4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.55-4A>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.267-4A>C
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.55-4A>C
num of homozygotes: 0
population: Latino
population: South Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: DP
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: ClippingRankSum

2-85589318-TTGTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589318
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589314
    reference: chr 2
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.67_70delTCTG
  hgvsp: ENSP00000407599.3:p.Ser23LeufsTer24
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.279_282delTCTG
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.67_70delTCTG
  hgvsp: ENSP00000408329.1:p.Ser23LeufsTer57
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.67_70delTCTG
  hgvsp: ENSP00000386304.2:p.Ser23LeufsTer24
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.67_70delTCTG
  hgvsp: ENSP00000386257.2:p.Ser23LeufsTer24
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.67_70delTCTG
  hgvsp: ENSP00000387134.1:p.Ser23LeufsTer24
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.67_70delTCTG
  hgvsp: ENSP00000436715.2:p.Ser23LeufsTer24
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.404_407delTCTG
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.67_70delTCTG
  hgvsp: ENSP00000318264.7:p.Ser23LeufsTer24
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.67_70delTCTG
  hgvsp: ENSP00000386248.3:p.Ser23LeufsTer24
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.67_70delTCTG
  hgvsp: ENSP00000393443.1:p.Ser23LeufsTer24
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.67_70delTCTG
  hgvsp: ENSP00000398264.1:p.Ser23LeufsTer47
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.67_70delTCTG
  hgvsp: ENSP00000394774.1:p.Ser23LeufsTer24
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.67_70delTCTG
  hgvsp: ENSP00000408745.3:p.Ser23LeufsTer24
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.67_70delTCTG
  hgvsp: ENSP00000387139.3:p.Ser23LeufsTer24
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.67_70delTCTG
  hgvsp: ENSP00000377434.4:p.Ser23LeufsTer24
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.67_70delTCTG
  hgvsp: ENSP00000401984.2:p.Ser23LeufsTer24
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.67_70delTCTG
  hgvsp: ENSP00000412692.2:p.Ser23LeufsTer24
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser23LeufsTer24
num of homozygotes: 0
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
population: African
population: Latino
reference allele: TTGTC
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: VQSLOD

2-85589319-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589319
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589319
    reference: chr 2
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.65T>A
  hgvsp: ENSP00000394774.1:p.Leu22Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.65T>A
  hgvsp: ENSP00000393443.1:p.Leu22Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.65T>A
  hgvsp: ENSP00000386248.3:p.Leu22Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.65T>A
  hgvsp: ENSP00000386304.2:p.Leu22Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.65T>A
  hgvsp: ENSP00000401984.2:p.Leu22Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.65T>A
  hgvsp: ENSP00000377434.4:p.Leu22Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.65T>A
  hgvsp: ENSP00000408329.1:p.Leu22Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.65T>A
  hgvsp: ENSP00000412692.2:p.Leu22Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.65T>A
  hgvsp: ENSP00000386257.2:p.Leu22Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.65T>A
  hgvsp: ENSP00000387139.3:p.Leu22Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.65T>A
  hgvsp: ENSP00000436715.2:p.Leu22Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.65T>A
  hgvsp: ENSP00000407599.3:p.Leu22Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.402T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.65T>A
  hgvsp: ENSP00000398264.1:p.Leu22Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.277T>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.65T>A
  hgvsp: ENSP00000318264.7:p.Leu22Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.65T>A
  hgvsp: ENSP00000387134.1:p.Leu22Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.65T>A
  hgvsp: ENSP00000408745.3:p.Leu22Ter
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Leu22Ter
num of homozygotes: 0
population: East Asian
population: Latino
population: European (Finnish)
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: BaseQRankSum
site quality: ClippingRankSum

2-85589329-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589329
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589329
    reference: chr 2
allele count: 2
allele frequency: 1.647446457990115e-5
allele num: 121400
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.75A>G
  hgvsp: ENST00000409890.2:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.75A>G
  hgvsp: ENST00000446464.3:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.75A>G
  hgvsp: ENST00000393852.4:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.75A>G
  hgvsp: ENST00000440462.1:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.75A>G
  hgvsp: ENST00000409013.3:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.75A>G
  hgvsp: ENST00000410106.1:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.75A>G
  hgvsp: ENST00000409344.3:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.75A>G
  hgvsp: ENST00000315658.7:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.287A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.75A>G
  hgvsp: ENST00000409331.2:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.75A>G
  hgvsp: ENST00000462891.3:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.412A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.75A>G
  hgvsp: ENST00000418268.1:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.75A>G
  hgvsp: ENST00000428955.2:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.75A>G
  hgvsp: ENST00000429764.1:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.75A>G
  hgvsp: ENST00000444108.3:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.75A>G
  hgvsp: ENST00000414593.1:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.75A>G
  hgvsp: ENST00000423095.3:c.75A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly25Gly
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
population: East Asian
reference allele: A
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: QD
site quality: ClippingRankSum
site quality: DP

2-85589335-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589335
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589335
    reference: chr 2
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.81T>C
  hgvsp: ENST00000409013.3:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.81T>C
  hgvsp: ENST00000444108.3:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.81T>C
  hgvsp: ENST00000409344.3:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.81T>C
  hgvsp: ENST00000393852.4:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.81T>C
  hgvsp: ENST00000418268.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.81T>C
  hgvsp: ENST00000410106.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.293T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.81T>C
  hgvsp: ENST00000315658.7:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.81T>C
  hgvsp: ENST00000414593.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.418T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.81T>C
  hgvsp: ENST00000428955.2:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.81T>C
  hgvsp: ENST00000429764.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.81T>C
  hgvsp: ENST00000446464.3:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.81T>C
  hgvsp: ENST00000409890.2:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.81T>C
  hgvsp: ENST00000423095.3:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.81T>C
  hgvsp: ENST00000440462.1:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.81T>C
  hgvsp: ENST00000462891.3:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.81T>C
  hgvsp: ENST00000409331.2:c.81T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser27Ser
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: VQSLOD
site quality: DP
site quality: QD
site quality: ReadPosRankSum
site quality: MQ

http://identifiers.org/exac.variant/2-85589340-CA-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589340
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589339
    reference: chr 2
allele count: 4
allele frequency: 3.294838635277837e-5
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.87delA
  hgvsp: ENSP00000386248.3:p.Tyr30MetfsTer18
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.87delA
  hgvsp: ENSP00000318264.7:p.Tyr30MetfsTer18
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.87delA
  hgvsp: ENSP00000407599.3:p.Tyr30MetfsTer18
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.87delA
  hgvsp: ENSP00000377434.4:p.Tyr30MetfsTer18
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.87delA
  hgvsp: ENSP00000387139.3:p.Tyr30MetfsTer18
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.87delA
  hgvsp: ENSP00000394774.1:p.Tyr30MetfsTer18
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.87delA
  hgvsp: ENSP00000393443.1:p.Tyr30MetfsTer18
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.87delA
  hgvsp: ENSP00000386304.2:p.Tyr30MetfsTer18
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.87delA
  hgvsp: ENSP00000436715.2:p.Tyr30MetfsTer18
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.87delA
  hgvsp: ENSP00000398264.1:p.Tyr30MetfsTer41
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.87delA
  hgvsp: ENSP00000387134.1:p.Tyr30MetfsTer18
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.424delA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.87delA
  hgvsp: ENSP00000408329.1:p.Tyr30MetfsTer51
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.299delA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.87delA
  hgvsp: ENSP00000401984.2:p.Tyr30MetfsTer18
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.87delA
  hgvsp: ENSP00000408745.3:p.Tyr30MetfsTer18
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.87delA
  hgvsp: ENSP00000412692.2:p.Tyr30MetfsTer18
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.87delA
  hgvsp: ENSP00000386257.2:p.Tyr30MetfsTer18
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: frameshift
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Tyr30MetfsTer18
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
population: East Asian
reference allele: CA
site quality: FS
site quality: MQ
site quality: DP
site quality: QD
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum

2-85589351-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589351
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589351
    reference: chr 2
allele count: 2
allele frequency: 1.647365039619129e-5
allele num: 121406
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.97G>A
  hgvsp: ENSP00000394774.1:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.97G>A
  hgvsp: ENSP00000387134.1:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.97G>A
  hgvsp: ENSP00000412692.2:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.97G>A
  hgvsp: ENSP00000377434.4:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.97G>A
  hgvsp: ENSP00000401984.2:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.97G>A
  hgvsp: ENSP00000407599.3:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.97G>A
  hgvsp: ENSP00000393443.1:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.97G>A
  hgvsp: ENSP00000386248.3:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.97G>A
  hgvsp: ENSP00000387139.3:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.97G>A
  hgvsp: ENSP00000398264.1:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.97G>A
  hgvsp: ENSP00000408329.1:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.97G>A
  hgvsp: ENSP00000386304.2:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.97G>A
  hgvsp: ENSP00000436715.2:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.97G>A
  hgvsp: ENSP00000386257.2:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.309G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.97G>A
  hgvsp: ENSP00000408745.3:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.434G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.97G>A
  hgvsp: ENSP00000318264.7:p.Asp33Asn
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp33Asn
num of homozygotes: 0
population: South Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: East Asian
population: African
population: European (Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: QD

2-85589354-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589354
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589354
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.100A>G
  hgvsp: ENSP00000393443.1:p.Lys34Glu
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.100A>G
  hgvsp: ENSP00000401984.2:p.Lys34Glu
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.100A>G
  hgvsp: ENSP00000398264.1:p.Lys34Glu
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.100A>G
  hgvsp: ENSP00000387139.3:p.Lys34Glu
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.100A>G
  hgvsp: ENSP00000387134.1:p.Lys34Glu
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.100A>G
  hgvsp: ENSP00000318264.7:p.Lys34Glu
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.100A>G
  hgvsp: ENSP00000386248.3:p.Lys34Glu
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.100A>G
  hgvsp: ENSP00000412692.2:p.Lys34Glu
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.100A>G
  hgvsp: ENSP00000407599.3:p.Lys34Glu
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.100A>G
  hgvsp: ENSP00000408745.3:p.Lys34Glu
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.100A>G
  hgvsp: ENSP00000377434.4:p.Lys34Glu
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.437A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.100A>G
  hgvsp: ENSP00000394774.1:p.Lys34Glu
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.100A>G
  hgvsp: ENSP00000408329.1:p.Lys34Glu
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.100A>G
  hgvsp: ENSP00000386304.2:p.Lys34Glu
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.100A>G
  hgvsp: ENSP00000436715.2:p.Lys34Glu
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.100A>G
  hgvsp: ENSP00000386257.2:p.Lys34Glu
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.312A>G
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys34Glu
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: DP
site quality: VQSLOD
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: ReadPosRankSum

2-85589358-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589358
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589358
    reference: chr 2
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.104G>C
  hgvsp: ENSP00000394774.1:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.104G>C
  hgvsp: ENSP00000398264.1:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.3G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.104G>C
  hgvsp: ENSP00000393443.1:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.104G>C
  hgvsp: ENSP00000401984.2:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.104G>C
  hgvsp: ENSP00000377434.4:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.104G>C
  hgvsp: ENSP00000318264.7:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.104G>C
  hgvsp: ENSP00000387139.3:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.104G>C
  hgvsp: ENSP00000412692.2:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.104G>C
  hgvsp: ENSP00000408329.1:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.104G>C
  hgvsp: ENSP00000407599.3:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.104G>C
  hgvsp: ENSP00000408745.3:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.104G>C
  hgvsp: ENSP00000387134.1:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.316G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.104G>C
  hgvsp: ENSP00000386257.2:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.104G>C
  hgvsp: ENSP00000436715.2:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.104G>C
  hgvsp: ENSP00000386248.3:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.441G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.104G>C
  hgvsp: ENSP00000386304.2:p.Ser35Thr
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser35Thr
num of homozygotes: 0
population: East Asian
population: African
population: Latino
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: G
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD

2-85589366-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589366
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589366
    reference: chr 2
allele count: 3
allele frequency: 2.471128976458378e-5
allele num: 121402
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.112G>A
  hgvsp: ENSP00000436715.2:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.112G>A
  hgvsp: ENSP00000386248.3:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.112G>A
  hgvsp: ENSP00000318264.7:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.112G>A
  hgvsp: ENSP00000387134.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.112G>A
  hgvsp: ENSP00000393443.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.112G>A
  hgvsp: ENSP00000398264.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.112G>A
  hgvsp: ENSP00000408329.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.449G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.112G>A
  hgvsp: ENSP00000386304.2:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.11G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.324G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.112G>A
  hgvsp: ENSP00000408745.3:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.112G>A
  hgvsp: ENSP00000407599.3:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.112G>A
  hgvsp: ENSP00000377434.4:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.112G>A
  hgvsp: ENSP00000387139.3:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.112G>A
  hgvsp: ENSP00000412692.2:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.112G>A
  hgvsp: ENSP00000386257.2:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.112G>A
  hgvsp: ENSP00000401984.2:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.112G>A
  hgvsp: ENSP00000394774.1:p.Ala38Thr
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ala38Thr
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
population: African
reference allele: G
site quality: MQ
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: QD

2-85589375-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589375
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589375
    reference: chr 2
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.121G>T
  hgvsp: ENSP00000386248.3:p.Gly41Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.121G>T
  hgvsp: ENSP00000412692.2:p.Gly41Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.121G>T
  hgvsp: ENSP00000393443.1:p.Gly41Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.121G>T
  hgvsp: ENSP00000398264.1:p.Gly41Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.121G>T
  hgvsp: ENSP00000387139.3:p.Gly41Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.121G>T
  hgvsp: ENSP00000436715.2:p.Gly41Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.121G>T
  hgvsp: ENSP00000394774.1:p.Gly41Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.121G>T
  hgvsp: ENSP00000377434.4:p.Gly41Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: stop_gained
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.121G>T
  hgvsp: ENSP00000318264.7:p.Gly41Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.121G>T
  hgvsp: ENSP00000387134.1:p.Gly41Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.121G>T
  hgvsp: ENSP00000407599.3:p.Gly41Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.121G>T
  hgvsp: ENSP00000408745.3:p.Gly41Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.333G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.121G>T
  hgvsp: ENSP00000386304.2:p.Gly41Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.20G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.121G>T
  hgvsp: ENSP00000401984.2:p.Gly41Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.121G>T
  hgvsp: ENSP00000408329.1:p.Gly41Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: stop_gained
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.121G>T
  hgvsp: ENSP00000386257.2:p.Gly41Ter
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.458G>T
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: stop gained
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly41Ter
num of homozygotes: 0
population: African
population: European (Non-Finnish)
population: Latino
population: South Asian
population: European (Finnish)
population: East Asian
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: DP
site quality: QD
site quality: FS
site quality: MQ

2-85589377-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589377
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589377
    reference: chr 2
allele count: 14
allele frequency: 1.153269519086611e-4
allele num: 121394
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.123A>G
  hgvsp: ENST00000409344.3:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.22A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.123A>G
  hgvsp: ENST00000462891.3:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.123A>G
  hgvsp: ENST00000418268.1:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.123A>G
  hgvsp: ENST00000393852.4:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.123A>G
  hgvsp: ENST00000409331.2:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.123A>G
  hgvsp: ENST00000423095.3:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.123A>G
  hgvsp: ENST00000410106.1:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.123A>G
  hgvsp: ENST00000409890.2:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.123A>G
  hgvsp: ENST00000444108.3:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.123A>G
  hgvsp: ENST00000428955.2:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.123A>G
  hgvsp: ENST00000440462.1:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.123A>G
  hgvsp: ENST00000315658.7:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.123A>G
  hgvsp: ENST00000446464.3:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.123A>G
  hgvsp: ENST00000414593.1:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.123A>G
  hgvsp: ENST00000409013.3:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.123A>G
  hgvsp: ENST00000429764.1:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.460A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.335A>G
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Gly41Gly
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: Other
population: East Asian
population: European (Non-Finnish)
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: QD

2-85589384-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589384
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589384
    reference: chr 2
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.129+1G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.129+1G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.129+1G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.129+1G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.28+1G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.129+1G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.129+1G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.129+1G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.129+1G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.129+1G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.129+1G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.129+1G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.129+1G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.466+1G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.129+1G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.129+1G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.129+1G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.341+1G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_donor_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.129+1G>A
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: splice donor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 355
  bin: 9.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7177
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
hgvs: c.129+1G>A
num of homozygotes: 0
population: South Asian
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: VQSLOD
site quality: DP
site quality: QD

2-85589388-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589388
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589388
    reference: chr 2
allele count: 20
allele frequency: 1.64774506088418e-4
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.28+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.129+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.129+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.129+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.129+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.129+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.129+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.129+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.129+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.129+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.129+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.341+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.129+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.129+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.466+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.129+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.129+5G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.129+5G>A
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.129+5G>A
num of homozygotes: 0
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: Other
population: Latino
reference allele: G
site quality: QD
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: MQ

2-85589396-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589396
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589396
    reference: chr 2
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.28+13C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.466+13C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.129+13C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.129+13C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.129+13C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.341+13C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.129+13C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.129+13C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.129+13C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.129+13C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.129+13C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.129+13C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.129+13C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.129+13C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.129+13C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.129+13C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.129+13C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.129+13C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.129+13C>G
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1094
  bin: 6.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 10669
  bin: 3.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: DP
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD

2-85589404-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589404
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589404
    reference: chr 2
allele count: 5
allele frequency: 4.121060266385336e-5
allele num: 121328
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.466+21G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.129+21G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.28+21G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.129+21G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.129+21G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.129+21G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.129+21G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.129+21G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.129+21G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.129+21G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.129+21G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.129+21G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.341+21G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.129+21G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.129+21G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.129+21G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.129+21G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.129+21G>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.129+21G>C
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 354
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: African
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: DP
site quality: QD

2-85589406-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589406
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589406
    reference: chr 2
allele count: 1
allele frequency: 8.249599894405122e-6
allele num: 121218
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.129+23T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.129+23T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.129+23T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.129+23T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.466+23T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.129+23T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.28+23T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.129+23T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.129+23T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.129+23T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.129+23T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.129+23T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.129+23T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.129+23T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.129+23T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.341+23T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.129+23T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.129+23T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.129+23T>C
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 1
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 215
  bin: 1.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: DP

http://identifiers.org/exac.variant/2-85589408-C-CAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589408
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589410
    reference: chr 2
allele count: 63
allele frequency: 5.192535935645523e-4
allele num: 121328
alternate allele: CAA
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.341+25_341+26insAA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.129+25_129+26insAA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.28+25_28+26insAA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.129+25_129+26insAA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.129+25_129+26insAA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.129+25_129+26insAA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.129+25_129+26insAA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.129+25_129+26insAA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.466+25_466+26insAA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.129+25_129+26insAA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.129+25_129+26insAA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.129+25_129+26insAA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.129+25_129+26insAA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.129+25_129+26insAA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.129+25_129+26insAA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.129+25_129+26insAA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.129+25_129+26insAA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.129+25_129+26insAA
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.129+25_129+26insAA
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 6.25e1
  variant carriers: 11
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: African
population: East Asian
population: Latino
population: South Asian
reference allele: C
site quality: FS
site quality: ReadPosRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum

2-85589408-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589408
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589408
    reference: chr 2
allele count: 1
allele frequency: 8.242120532770671e-6
allele num: 121328
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.466+25C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.129+25C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.129+25C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.28+25C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.129+25C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.129+25C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.129+25C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.129+25C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.129+25C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.129+25C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.129+25C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.129+25C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.129+25C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.341+25C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.129+25C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.129+25C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.129+25C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.129+25C>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.129+25C>G
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: VQSRTrancheINDEL95.00to96.00
genotype depth: GenotypeDepth
  all individuals: 7182
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 34
  bin: 7.5e0
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: Other
population: African
population: Latino
population: European (Non-Finnish)
population: European (Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQRankSum
site quality: ClippingRankSum
site quality: FS

2-85589409-C-CCACAACCTGG
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589409
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589419
    reference: chr 2
allele count: 63
allele frequency: 5.192792733387184e-4
allele num: 121322
alternate allele: CCACAACCTGG
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
  all individuals: 10267
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 10663
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 6244
  bin: 2.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 353
  bin: 9.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1104
  bin: 6.25e1
  variant carriers: 11
genotype depth: GenotypeDepth
  all individuals: 9168
  bin: 3.75e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: DP

2-85589420-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589420
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589420
    reference: chr 2
allele count: 3
allele frequency: 2.473981956424931e-5
allele num: 121262
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.129+37G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.129+37G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.129+37G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.129+37G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.129+37G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.466+37G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.341+37G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.129+37G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.129+37G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.129+37G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.129+37G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.129+37G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.129+37G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.129+37G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.129+37G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.129+37G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.129+37G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.28+37G>T
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.129+37G>T
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9164
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 9924
  bin: 2.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQ

2-85589423-TTTG-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589423
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589420
    reference: chr 2
allele count: 1
allele frequency: 8.246062505153789e-6
allele num: 121270
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.129+45_129+47delTGT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.129+45_129+47delTGT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.129+45_129+47delTGT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.129+45_129+47delTGT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.466+45_466+47delTGT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.129+45_129+47delTGT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.129+45_129+47delTGT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.129+45_129+47delTGT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.129+45_129+47delTGT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.129+45_129+47delTGT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.129+45_129+47delTGT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.28+45_28+47delTGT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.129+45_129+47delTGT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.341+45_341+47delTGT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.129+45_129+47delTGT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.129+45_129+47delTGT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.129+45_129+47delTGT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.129+45_129+47delTGT
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.129+45_129+47delTGT
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 7176
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 3156
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
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: TTTG
site quality: InbreedingCoeff
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: FS
site quality: DP

2-85589431-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85589431
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85589431
    reference: chr 2
allele count: 1
allele frequency: 8.25082508250825e-6
allele num: 121200
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.129+48G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.129+48G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.129+48G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.129+48G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.129+48G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.129+48G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.341+48G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.466+48G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.28+48G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.129+48G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.129+48G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.129+48G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.129+48G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.129+48G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.129+48G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.129+48G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.129+48G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.129+48G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.129+48G>A
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 9437
  bin: 2.75e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 4622
  bin: 4.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: Latino
population: African
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: European (Finnish)
reference allele: G
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: MQRankSum
site quality: DP
site quality: BaseQRankSum
site quality: MQ
site quality: InbreedingCoeff

2-85590173-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85590173
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85590173
    reference: chr 2
allele count: 2
allele frequency: 2.037033264753214e-5
allele num: 98182
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.29-47G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.130-47G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.129+790G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.130-47G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.466+790G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.130-47G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.130-47G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.130-47G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.130-47G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.130-47G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.130-47G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.130-47G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.129+790G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.130-47G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.130-47G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.342-47G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.130-47G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.130-47G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.130-47G>A
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 17614
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 71
  bin: 9.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: African
population: European (Finnish)
population: South Asian
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: MQ
site quality: QD
site quality: BaseQRankSum
site quality: DP
site quality: ClippingRankSum

2-85590175-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85590175
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85590175
    reference: chr 2
allele count: 2
allele frequency: 2.033801785677968e-5
allele num: 98338
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.342-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.130-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.29-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.130-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.129+792G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.130-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.130-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.466+792G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.130-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.130-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.130-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.129+792G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.130-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.130-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.130-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.130-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.130-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.130-45G>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.130-45G>A
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 10151
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 590
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
population: South Asian
reference allele: G
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: DP
site quality: ClippingRankSum

2-85590176-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85590176
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85590176
    reference: chr 2
allele count: 1
allele frequency: 1.018620380556574e-5
allele num: 98172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.130-44T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.130-44T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.130-44T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.130-44T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.129+793T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.129+793T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.130-44T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.130-44T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.29-44T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.130-44T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.130-44T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.130-44T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.130-44T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.130-44T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.130-44T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.342-44T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.130-44T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.466+793T>C
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.130-44T>C
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 887
  bin: 2.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 288
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: DP

2-85590188-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85590188
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85590188
    reference: chr 2
allele count: 2
allele frequency: 1.987834453146742e-5
allele num: 100612
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.29-32A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.129+805A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.130-32A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.129+805A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.130-32A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.130-32A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.130-32A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.130-32A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.130-32A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.130-32A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.130-32A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.130-32A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.130-32A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.130-32A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.130-32A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.130-32A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.130-32A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.466+805A>G
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.342-32A>G
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 13358
  bin: 1.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 589
  bin: 4.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: East Asian
population: Latino
population: European (Non-Finnish)
population: Other
population: European (Finnish)
population: South Asian
reference allele: A
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: MQ
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD

http://identifiers.org/exac.variant/2-85590191-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 85590191
    reference: chr 2
  end: Position
    type: ExactPosition
    position: 85590191
    reference: chr 2
allele count: 1
allele frequency: 9.876543209876543e-6
allele num: 101250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000394774
  ensembl transcript: ENST00000414593
  gene symbol: ELMOD3
  hgvsc: ENST00000414593.1:c.130-29C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386304
  ensembl transcript: ENST00000409890
  gene symbol: ELMOD3
  hgvsc: ENST00000409890.2:c.130-29C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000436715
  ensembl transcript: ENST00000462891
  gene symbol: ELMOD3
  hgvsc: ENST00000462891.3:c.130-29C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000490508
  gene symbol: ELMOD3
  hgvsc: ENST00000490508.1:n.342-29C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408329
  ensembl transcript: ENST00000429764
  gene symbol: ELMOD3
  hgvsc: ENST00000429764.1:c.129+808C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000476734
  gene symbol: ELMOD3
  hgvsc: ENST00000476734.1:n.466+808C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387139
  ensembl transcript: ENST00000409013
  gene symbol: ELMOD3
  hgvsc: ENST00000409013.3:c.130-29C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000387134
  ensembl transcript: ENST00000410106
  gene symbol: ELMOD3
  hgvsc: ENST00000410106.1:c.130-29C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000412692
  ensembl transcript: ENST00000428955
  gene symbol: ELMOD3
  hgvsc: ENST00000428955.2:c.130-29C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl transcript: ENST00000488150
  gene symbol: ELMOD3
  hgvsc: ENST00000488150.1:n.29-29C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000393443
  ensembl transcript: ENST00000418268
  gene symbol: ELMOD3
  hgvsc: ENST00000418268.1:c.130-29C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000407599
  ensembl transcript: ENST00000446464
  gene symbol: ELMOD3
  hgvsc: ENST00000446464.3:c.130-29C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000377434
  ensembl transcript: ENST00000393852
  gene symbol: ELMOD3
  hgvsc: ENST00000393852.4:c.130-29C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000408745
  ensembl transcript: ENST00000423095
  gene symbol: ELMOD3
  hgvsc: ENST00000423095.3:c.130-29C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000318264
  ensembl transcript: ENST00000315658
  gene symbol: ELMOD3
  hgvsc: ENST00000315658.7:c.130-29C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386257
  ensembl transcript: ENST00000409331
  gene symbol: ELMOD3
  hgvsc: ENST00000409331.2:c.130-29C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000401984
  ensembl transcript: ENST00000444108
  gene symbol: ELMOD3
  hgvsc: ENST00000444108.3:c.130-29C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000398264
  ensembl transcript: ENST00000440462
  gene symbol: ELMOD3
  hgvsc: ENST00000440462.1:c.129+808C>A
  variant of: http://identifiers.org/hgnc/26158
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000115459
  ensembl protein: ENSP00000386248
  ensembl transcript: ENST00000409344
  gene symbol: ELMOD3
  hgvsc: ENST00000409344.3:c.130-29C>A
  variant of: http://identifiers.org/hgnc/26158
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 110
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 23583
  bin: 2.25e1
  variant carriers: 1
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: C

Latino
type: Population
allele count: 3
allele frequency: 2.644103648863035e-4
allele num: 11346
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9658
num of homozygotes: 0

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 780
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8360
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9666
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.607975558771507e-5
allele num: 62190
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 4.72e0

MQRankSum
type: SiteQuality
SIO_000300: 3.12e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.04e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.655e0

DP
type: SiteQuality
SIO_000300: 1.865693e6

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.503e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.17e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.4e-3

GenotypeDepth
all individuals: 203
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4109
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10771
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1219
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 726
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2256
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 380
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1495
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6924
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1610
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1282
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 162
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1804
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1247
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 993
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 369
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6166
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1962
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3898
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3039
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2073
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12985
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3062
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4597
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13092
bin: 9.75e1
variant carriers: 1

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: 8564
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.526018617427133e-5
allele num: 65530
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: 0
allele frequency: 0.0e0
allele num: 10326
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15010
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.17e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.64e-1

QD
type: SiteQuality
SIO_000300: 1.344e1

MQRankSum
type: SiteQuality
SIO_000300: -9.27e-1

VQSLOD
type: SiteQuality
SIO_000300: 2.75e-1

FS
type: SiteQuality
SIO_000300: 5.702e0

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 7.0e-4

DP
type: SiteQuality
SIO_000300: 1.982907e6

BaseQRankSum
type: SiteQuality
SIO_000300: 2.47e0

GenotypeDepth
all individuals: 11488
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2264
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1860
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 3159
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1495
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1221
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6995
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 254
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17401
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1492
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 60
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 282
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6510
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 618
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3981
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13119
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 163
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3104
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1418
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 797
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4679
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3081
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1279
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 630
bin: 4.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8592
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15156
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.045437933974906e-5
allele num: 65672
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.020742e6

MQRankSum
type: SiteQuality
SIO_000300: -1.5e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.599e0

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.1e-3

FS
type: SiteQuality
SIO_000300: 3.09e0

QD
type: SiteQuality
SIO_000300: 1.172e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.02e0

VQSLOD
type: SiteQuality
SIO_000300: 9.320000000000001e-1

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

GenotypeDepth
all individuals: 253
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1495
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3045
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1186
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 538
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 7004
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 17444
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13126
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 249
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 788
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 598
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4681
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1216
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3986
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3075
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3105
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 15156
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.522950869604947e-5
allele num: 65662
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

DP
type: SiteQuality
SIO_000300: 2.023858e6

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.25e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.77e-1

GenotypeDepth
all individuals: 204
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1495
bin: 9.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 3045
bin: 1.25e1
variant carriers: 2

GenotypeDepth
all individuals: 171
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1221
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2265
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11579
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1471
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3075
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 598
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4681
bin: 7.75e1
variant carriers: 1

GenotypeQuality
all individuals: 788
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 17444
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3105
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 249
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13126
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 1216
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 48
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3986
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1986
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 588
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1383
bin: 3.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8586
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10334
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 5
allele frequency: 3.299023489047242e-4
allele num: 15156
num of homozygotes: 0

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 2.77e-1

DP
type: SiteQuality
SIO_000300: 2.023858e6

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 4.24e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.84e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.25e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.6e-3

MQRankSum
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.54e-1

GenotypeDepth
all individuals: 1495
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 765
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1008
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4145
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16124
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2268
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 396
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7052
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 727
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13133
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4017
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 321
bin: 2.75e1
variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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MQRankSum
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MQ
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DP
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ReadPosRankSum
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InbreedingCoeff
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VQSLOD
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BaseQRankSum
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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African
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Latino
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East Asian
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European (Non-Finnish)
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DP
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FS
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QD
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ClippingRankSum
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MQ
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InbreedingCoeff
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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Other
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African
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South Asian
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European (Non-Finnish)
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VQSLOD
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FS
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ClippingRankSum
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MQRankSum
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QD
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InbreedingCoeff
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MQ
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ReadPosRankSum
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BaseQRankSum
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DP
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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East Asian
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European (Non-Finnish)
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European (Finnish)
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Other
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African
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South Asian
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MQ
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QD
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FS
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VQSLOD
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Latino
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South Asian
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African
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East Asian
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MQRankSum
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European (Finnish)
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Latino
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East Asian
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South Asian
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African
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European (Non-Finnish)
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DP
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BaseQRankSum
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InbreedingCoeff
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FS
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MQRankSum
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MQ
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ReadPosRankSum
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VQSLOD
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ClippingRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Finnish)
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Other
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European (Non-Finnish)
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African
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Latino
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South Asian
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MQRankSum
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BaseQRankSum
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QD
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InbreedingCoeff
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FS
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MQ
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DP
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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allele count: 0
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African
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Latino
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South Asian
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European (Finnish)
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Other
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East Asian
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MQ
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ClippingRankSum
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InbreedingCoeff
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ReadPosRankSum
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FS
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BaseQRankSum
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DP
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MQRankSum
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VQSLOD
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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African
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East Asian
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Other
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European (Finnish)
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South Asian
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MQ
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MQRankSum
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QD
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DP
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VQSLOD
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FS
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ClippingRankSum
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ReadPosRankSum
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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Latino
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FS
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VQSLOD
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QD
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MQ
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DP
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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South Asian
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allele frequency: 0.0e0
allele num: 16386
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10398
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66592
num of homozygotes: 0

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

European (Finnish)
type: Population
allele count: 1
allele frequency: 1.511944360447536e-4
allele num: 6614
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-2

MQ
type: SiteQuality
SIO_000300: 5.971e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

DP
type: SiteQuality
SIO_000300: 2.093486e6

FS
type: SiteQuality
SIO_000300: 7.545e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.55e-1

QD
type: SiteQuality
SIO_000300: 1.081e1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.817e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.27e-1

Annotation
canonical: false
consequence: frameshift_variant
consequence: splice_region_variant
ensembl gene: ENSG00000115459
ensembl protein: ENSP00000412692
ensembl transcript: ENST00000428955
gene symbol: ELMOD3
hgvsc: ENST00000428955.2:c.54_54+1insTTAC
hgvsp: ENSP00000412692.2:p.Gly19LeufsTer3
variant of: http://identifiers.org/hgnc/26158

Annotation
canonical: false
consequence: frameshift_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000115459
ensembl protein: ENSP00000408745
ensembl transcript: ENST00000423095
gene symbol: ELMOD3
hgvsc: ENST00000423095.3:c.54_54+1insTTAC
hgvsp: ENSP00000408745.3:p.Gly19LeufsTer3
variant of: http://identifiers.org/hgnc/26158

GenotypeDepth
all individuals: 16809
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1223
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 11015
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 253
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 277
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4153
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 115
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2269
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 539
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1495
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 728
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13549
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7053
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3125
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 94
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 23
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4023
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6924
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 50
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3187
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13134
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4766
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 22857
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 316
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2001
bin: 8.75e1
variant carriers: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
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: 1
allele frequency: 6.110228522546743e-5
allele num: 16366
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: 1.38e0

FS
type: SiteQuality
SIO_000300: 9.97e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.871e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
SIO_000300: 2.09225e6

MQRankSum
type: SiteQuality
SIO_000300: -1.215e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.29e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.36e-1

QD
type: SiteQuality
SIO_000300: 1.116e1

GenotypeDepth
all individuals: 4152
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 362
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 727
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 253
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 538
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 134
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11012
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 204
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1224
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16673
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2269
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7051
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 193
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 13566
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1495
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2002
bin: 8.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 6928
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 114
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 388
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13132
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 22760
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 96
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 19
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3191
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4770
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3125
bin: 9.25e1
variant carriers: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.502674761074713e-5
allele num: 66548
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16342
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.12e0

VQSLOD
type: SiteQuality
SIO_000300: -5.696e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -6.57e-1

DP
type: SiteQuality
SIO_000300: 2.091222e6

MQ
type: SiteQuality
SIO_000300: 5.934e1

MQRankSum
type: SiteQuality
SIO_000300: -1.097e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 5.679999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.642e0

QD
type: SiteQuality
SIO_000300: 1.101e1

GenotypeDepth
all individuals: 11010
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 205
bin: 7.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 2269
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 389
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 253
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 139
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1224
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 16632
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 13571
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1495
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7051
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 727
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4153
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 538
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 410
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 103
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 61
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 21
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 22724
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4769
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 6928
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13134
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2002
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3125
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 123
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4020
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3190
bin: 7.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10392
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16336
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.005530175522962e-5
allele num: 66544
num of homozygotes: 0

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

MQ
type: SiteQuality
SIO_000300: 5.951e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.44e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -1.533e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

VQSLOD
type: SiteQuality
SIO_000300: 2.54e0

DP
type: SiteQuality
SIO_000300: 2.090732e6

QD
type: SiteQuality
SIO_000300: 1.036e1

MQRankSum
type: SiteQuality
SIO_000300: 9.8e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

GenotypeDepth
all individuals: 1495
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 253
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 539
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 7053
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13580
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4152
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 205
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16430
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 217
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 727
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11008
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 520
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 379
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2270
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1224
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 82
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2002
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 13134
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 4767
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 35
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3184
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 143
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 510
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3125
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 22460
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6911
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16310
num of homozygotes: 0

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11560
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.66e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.16e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.35e0

VQSLOD
type: SiteQuality
SIO_000300: -2.792e-1

QD
type: SiteQuality
SIO_000300: 9.1e0

FS
type: SiteQuality
SIO_000300: 2.379e0

MQ
type: SiteQuality
SIO_000300: 5.911e1

DP
type: SiteQuality
SIO_000300: 2.089071e6

MQRankSum
type: SiteQuality
SIO_000300: 1.08e0

GenotypeDepth
all individuals: 379
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 11016
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1224
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 177
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 218
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7057
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 728
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1495
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 13587
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 16411
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4154
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 253
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 538
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2270
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 151
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 53
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13135
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2002
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6906
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 28
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 146
bin: 2.75e1
variant carriers: 0

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

East Asian
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num of homozygotes: 0

European (Finnish)
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Other
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South Asian
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Latino
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allele frequency: 0.0e0
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num of homozygotes: 0

African
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allele count: 0
allele frequency: 0.0e0
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European (Non-Finnish)
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allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

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

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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bin: 9.75e1
variant carriers: 2

European (Non-Finnish)
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allele frequency: 2.998770504093322e-5
allele num: 66694
num of homozygotes: 0

African
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allele count: 0
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Latino
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South Asian
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European (Finnish)
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num of homozygotes: 0

Other
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East Asian
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FS
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SIO_000300: 6.53e-1

BaseQRankSum
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QD
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MQ
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ClippingRankSum
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MQRankSum
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InbreedingCoeff
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ReadPosRankSum
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SIO_000300: 7.09e-1

VQSLOD
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DP
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SIO_000300: 2.629073e6

GenotypeDepth
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variant carriers: 0

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

European (Finnish)
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allele count: 0
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num of homozygotes: 0

South Asian
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African
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European (Non-Finnish)
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allele frequency: 0.0e0
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East Asian
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Latino
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allele num: 11578
num of homozygotes: 0

Other
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InbreedingCoeff
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VQSLOD
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FS
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MQ
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ClippingRankSum
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MQRankSum
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DP
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BaseQRankSum
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ReadPosRankSum
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QD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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Latino
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num of homozygotes: 0

South Asian
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African
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num of homozygotes: 0

European (Finnish)
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num of homozygotes: 0

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

Other
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allele frequency: 0.0e0
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European (Non-Finnish)
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allele num: 66722
num of homozygotes: 0

South Asian
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East Asian
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European (Finnish)
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African
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Latino
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InbreedingCoeff
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QD
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MQRankSum
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BaseQRankSum
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FS
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MQ
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DP
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ReadPosRankSum
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ClippingRankSum
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VQSLOD
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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European (Non-Finnish)
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East Asian
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DP
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MQ
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GenotypeDepth
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GenotypeQuality
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African
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Latino
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South Asian
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European (Non-Finnish)
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QD
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FS
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InbreedingCoeff
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MQ
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VQSLOD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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European (Non-Finnish)
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South Asian
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European (Finnish)
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East Asian
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African
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VQSLOD
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MQRankSum
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FS
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InbreedingCoeff
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BaseQRankSum
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DP
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QD
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GenotypeDepth
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GenotypeQuality
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GenotypeQuality
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African
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European (Non-Finnish)
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Latino
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South Asian
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East Asian
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MQRankSum
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VQSLOD
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QD
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FS
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MQ
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GenotypeQuality
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African
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South Asian
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European (Finnish)
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Latino
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East Asian
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European (Non-Finnish)
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FS
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VQSLOD
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DP
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MQ
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ReadPosRankSum
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ClippingRankSum
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QD
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GenotypeDepth
all individuals: 33
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 782
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 444
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1093
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3159
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1744
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2713
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10350
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 6
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 35
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4713
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 10336
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 11
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5791
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25366
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3204
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4110
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2630
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4465
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66702
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.73e0

BaseQRankSum
type: SiteQuality
SIO_000300: -8.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.74e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.31e-1

FS
type: SiteQuality
SIO_000300: 9.29e-1

VQSLOD
type: SiteQuality
SIO_000300: -6.293e-1

DP
type: SiteQuality
SIO_000300: 2.63349e6

QD
type: SiteQuality
SIO_000300: 9.02e0

Annotation
canonical: true
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000115459
ensembl protein: ENSP00000318264
ensembl transcript: ENST00000315658
gene symbol: ELMOD3
hgvsc: ENST00000315658.7:c.129+5G>A
variant of: http://identifiers.org/hgnc/26158

GenotypeDepth
all individuals: 501
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 10662
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 447
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 9170
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2713
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10350
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1743
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 3166
bin: 9.75e1
variant carriers: 8

GenotypeDepth
all individuals: 630
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 16
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 44
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1094
bin: 6.25e1
variant carriers: 2

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

GenotypeDepth
all individuals: 787
bin: 6.75e1
variant carriers: 3

GenotypeDepth
all individuals: 6691
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4613
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 359
bin: 9.25e1
variant carriers: 2

GenotypeDepth
all individuals: 531
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7174
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 13
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 15
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 44
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5787
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10306
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4463
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3206
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2629
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25391
bin: 9.75e1
variant carriers: 20

GenotypeQuality
all individuals: 4713
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4110
bin: 9.25e1
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: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 20
allele frequency: 2.997691777331455e-4
allele num: 66718
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.247e1

DP
type: SiteQuality
SIO_000300: 2.634729e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.1e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.281e0

ClippingRankSum
type: SiteQuality
SIO_000300: 8.1e-2

VQSLOD
type: SiteQuality
SIO_000300: 1.51e0

MQRankSum
type: SiteQuality
SIO_000300: 7.56e-1

FS
type: SiteQuality
SIO_000300: 5.75e-1

MQ
type: SiteQuality
SIO_000300: 5.936e1

GenotypeDepth
all individuals: 9175
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4621
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7182
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2715
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 788
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 500
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1747
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 78
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3156
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 26
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 10358
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 446
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 357
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 530
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6579
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 50
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 635
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3196
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5779
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 25375
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 2625
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4112
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10216
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4464
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4714
bin: 7.75e1
variant carriers: 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: 16494
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.609840476648087e-5
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66700
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -7.84e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -8.21e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.634051e6

MQ
type: SiteQuality
SIO_000300: 5.972e1

MQRankSum
type: SiteQuality
SIO_000300: -1.712e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.45e-1

QD
type: SiteQuality
SIO_000300: 1.481e1

VQSLOD
type: SiteQuality
SIO_000300: -3.798e-1

GenotypeDepth
all individuals: 633
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 3162
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 9168
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6383
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 446
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10319
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7169
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1743
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 30
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1103
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 175
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 787
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 532
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 10664
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 2718
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4623
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 197
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 499
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 25371
bin: 9.75e1
variant carriers: 5

GenotypeQuality
all individuals: 4705
bin: 7.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 4105
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 34
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4459
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5732
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9960
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 84
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2625
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 54
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3180
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 132
bin: 2.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.498050506868214e-5
allele num: 66684
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: 11576
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: 4.05e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.37e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

MQRankSum
type: SiteQuality
SIO_000300: 1.05e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.14e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -2.868e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.55e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

DP
type: SiteQuality
SIO_000300: 2.63236e6

QD
type: SiteQuality
SIO_000300: 1.255e1

GenotypeDepth
all individuals: 3158
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 199
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2715
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 31
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1104
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10307
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 786
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4623
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 532
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 9169
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6357
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1747
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7173
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 446
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10658
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 632
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 95
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 137
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3172
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4696
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 93
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2622
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 58
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 7.5e0
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 9941
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5725
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 25354
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 46
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 98
bin: 3.25e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16482
num of homozygotes: 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: 11566
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155802126675913e-4
allele num: 8652
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66596
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 4.133e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.9e0

ClippingRankSum
type: SiteQuality
SIO_000300: -6.96e-1

MQ
type: SiteQuality
SIO_000300: 5.945e1

QD
type: SiteQuality
SIO_000300: 1.495e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.12e-1

MQRankSum
type: SiteQuality
SIO_000300: -2.18e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 6.21e-1

DP
type: SiteQuality
SIO_000300: 2.631645e6

GenotypeDepth
all individuals: 3159
bin: 9.75e1
variant carriers: 10

GenotypeDepth
all individuals: 257
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 785
bin: 6.75e1
variant carriers: 4

GenotypeDepth
all individuals: 6291
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1748
bin: 5.75e1
variant carriers: 5

GenotypeDepth
all individuals: 530
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 4617
bin: 4.75e1
variant carriers: 5

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

GenotypeDepth
all individuals: 9173
bin: 3.75e1
variant carriers: 1

GenotypeDepth
all individuals: 444
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 10281
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 7182
bin: 4.25e1
variant carriers: 7

GenotypeDepth
all individuals: 500
bin: 8.25e1
variant carriers: 3

GenotypeDepth
all individuals: 238
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2718
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variant carriers: 7

GenotypeDepth
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variant carriers: 5

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

GenotypeQuality
all individuals: 109
bin: 2.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 54
allele frequency: 8.097165991902834e-4
allele num: 66690
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

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

East Asian
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allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

Latino
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allele count: 6
allele frequency: 5.183137525915688e-4
allele num: 11576
num of homozygotes: 0

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

FS
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ReadPosRankSum
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DP
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BaseQRankSum
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InbreedingCoeff
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SIO_000300: 2.1e-3

QD
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SIO_000300: 1.327e1

MQ
type: SiteQuality
SIO_000300: 5.155e1

MQRankSum
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SIO_000300: -5.551e0

VQSLOD
type: SiteQuality
SIO_000300: 1.06e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.26e-1

GenotypeDepth
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bin: 4.75e1
variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

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

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

East Asian
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allele count: 0
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num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

European (Non-Finnish)
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allele count: 1
allele frequency: 1.49947518368571e-5
allele num: 66690
num of homozygotes: 0

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

InbreedingCoeff
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SIO_000300: 2.1e-3

ReadPosRankSum
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MQ
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SIO_000300: 5.155e1

VQSLOD
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BaseQRankSum
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QD
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DP
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SIO_000300: 2.631075e6

MQRankSum
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SIO_000300: -5.551e0

ClippingRankSum
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SIO_000300: 1.26e-1

FS
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SIO_000300: 2.523e0

GenotypeDepth
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variant carriers: 7

GenotypeDepth
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variant carriers: 11

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 5

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 3

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 6

GenotypeDepth
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variant carriers: 5

GenotypeDepth
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variant carriers: 6

GenotypeDepth
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GenotypeDepth
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 63

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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GenotypeQuality
all individuals: 4100
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variant carriers: 0

GenotypeQuality
all individuals: 4687
bin: 7.75e1
variant carriers: 0

Latino
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allele count: 6
allele frequency: 5.183137525915688e-4
allele num: 11576
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16472
num of homozygotes: 0

European (Finnish)
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allele count: 2
allele frequency: 3.023888720895071e-4
allele num: 6614
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.101321585903084e-3
allele num: 908
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 54
allele frequency: 8.096680361051969e-4
allele num: 66694
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.9e-3

ClippingRankSum
type: SiteQuality
SIO_000300: 1.83e-1

BaseQRankSum
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SIO_000300: -2.606e0

QD
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ReadPosRankSum
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SIO_000300: -9.14e-1

MQRankSum
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SIO_000300: -5.57e0

VQSLOD
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SIO_000300: 2.4e-1

MQ
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SIO_000300: 5.147e1

FS
type: SiteQuality
SIO_000300: 4.76e0

DP
type: SiteQuality
SIO_000300: 2.630614e6

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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variant carriers: 0

GenotypeDepth
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GenotypeDepth
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GenotypeDepth
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variant carriers: 1

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 3

GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 8.25e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

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

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

European (Non-Finnish)
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allele count: 3
allele frequency: 4.499505054444011e-5
allele num: 66674
num of homozygotes: 0

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

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

Other
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allele count: 0
allele frequency: 0.0e0
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ReadPosRankSum
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SIO_000300: 2.41e-1

QD
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DP
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FS
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InbreedingCoeff
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BaseQRankSum
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MQRankSum
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VQSLOD
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ClippingRankSum
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SIO_000300: -4.9e-2

MQ
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SIO_000300: 5.954e1

GenotypeDepth
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variant carriers: 0

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

GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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GenotypeQuality
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variant carriers: 0

GenotypeQuality
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variant carriers: 0

GenotypeQuality
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bin: 6.75e1
variant carriers: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8652
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.0790273556231e-5
allele num: 16450
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: 66670
num of homozygotes: 0

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

African
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allele count: 0
allele frequency: 0.0e0
allele num: 10406
num of homozygotes: 0

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

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

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