20-34317474-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34317474
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34317474
    reference: chr 20
allele count: 38
allele frequency: 3.145174639960271e-4
allele num: 120820
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*319-25G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.297-25G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-175-25G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*247-25G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.297-25G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.512-1G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.266-25G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2412-25G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*247-190G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*247-25G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.297-25G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.867-25G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.297-25G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*247-25G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.297-25G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*247-25G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*225-25G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.297-187G>A
  variant of: http://identifiers.org/hgnc/15923
canonical: false
consequence: splice acceptor
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 966
  bin: 5.75e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 3005
  bin: 4.75e1
  variant carriers: 4
genotype depth: GenotypeDepth
  all individuals: 7569
  bin: 2.25e1
  variant carriers: 2
genotype depth: GenotypeDepth
  all individuals: 1314
  bin: 9.75e1
  variant carriers: 2
genotype quality: GenotypeQuality
hgvs: n.512-1G>A
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: DP
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: QD

20-34317481-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34317481
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34317481
    reference: chr 20
allele count: 364
allele frequency: 3.014842300556586e-3
allele num: 120736
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.297-32G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.297-32G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*247-32G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*247-32G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*319-32G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.867-32G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-175-32G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*247-197G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2412-32G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*225-32G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.512-8G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.297-194G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.266-32G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*247-32G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.297-32G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.297-32G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*247-32G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.297-32G>A
  variant of: http://identifiers.org/hgnc/15923
canonical: false
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 14176
  bin: 2.75e1
  variant carriers: 31
genotype depth: GenotypeDepth
  all individuals: 1646
  bin: 5.25e1
  variant carriers: 23
genotype depth: GenotypeDepth
  all individuals: 8020
  bin: 3.75e1
  variant carriers: 43
genotype quality: GenotypeQuality
hgvs: n.512-8G>A
num of homozygotes: 8
population: European (Non-Finnish)
population: Other
population: African
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: QD
site quality: VQSLOD
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

20-34317489-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34317489
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34317489
    reference: chr 20
allele count: 2
allele frequency: 1.658952537367906e-5
allele num: 120558
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.867-40C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*247-40C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.297-40C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.297-40C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.512-16C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.297-40C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.266-40C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2412-40C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*247-205C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.297-40C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*319-40C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-175-40C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*247-40C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.297-40C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*247-40C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*247-40C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.297-202C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*225-40C>G
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 308
  bin: 7.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7935
  bin: 3.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11268
  bin: 3.25e1
  variant carriers: 1
genotype depth: GenotypeDepth
  all individuals: 1632
  bin: 5.25e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: African
population: Other
population: European (Non-Finnish)
population: Latino
population: East Asian
reference allele: G
site quality: DP
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: QD

20-34317490-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34317490
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34317490
    reference: chr 20
allele count: 1
allele frequency: 8.29462508294625e-6
allele num: 120560
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.266-41C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*247-41C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*319-41C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*247-41C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2412-41C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*247-41C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.297-41C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*225-41C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.297-41C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-175-41C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.297-41C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*247-41C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.512-17C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.297-203C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.297-41C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.297-41C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*247-206C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.867-41C>G
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 406
  bin: 7.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 11156
  bin: 3.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 213
  bin: 8.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7924
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Latino
population: African
population: Other
population: European (Non-Finnish)
reference allele: G
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: ClippingRankSum

20-34317497-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34317497
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34317497
    reference: chr 20
allele count: 1
allele frequency: 8.314072398942449e-6
allele num: 120278
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*247-48G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.297-48G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2412-48G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*319-48G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*247-48G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.266-48G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.512-24G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.297-48G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.297-48G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.297-48G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*225-48G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*247-48G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*247-48G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-175-48G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.867-48G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*247-213G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.297-210G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.297-48G>C
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 5100
  bin: 4.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 428
  bin: 7.5e0
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 9.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 7843
  bin: 3.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
reference allele: C
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: FS
site quality: QD
site quality: ReadPosRankSum

20-34317499-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34317499
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34317499
    reference: chr 20
allele count: 1
allele frequency: 8.30827005200977e-6
allele num: 120362
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.266-50T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.867-50T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*247-50T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.297-50T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.512-26T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2412-50T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*247-50T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.297-50T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.297-50T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*247-50T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*225-50T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.297-50T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.297-212T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-175-50T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*247-215T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*247-50T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*319-50T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.297-50T>C
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: intron
filter: PASS
genotype depth: GenotypeDepth
  all individuals: 2970
  bin: 4.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 293
  bin: 8.25e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 961
  bin: 5.75e1
  variant carriers: 0
genotype depth: GenotypeDepth
  all individuals: 1310
  bin: 9.75e1
  variant carriers: 0
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: East Asian
reference allele: A
site quality: MQ
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: QD

20-34319814-A-AT
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319814
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319815
    reference: chr 20
allele count: 1
allele frequency: 8.242935804015958e-6
allele num: 121316
alternate allele: AT
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.296+48dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.866+48dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.511+48dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.296+48dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.*47dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*246+48dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.416dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.296+48dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*246+48dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*246+48dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.296+48dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.296+48dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2411+48dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*246+48dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.296+48dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*224+48dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.265+48dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-176+48dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*318+48dupA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*246+48dupA
  variant of: http://identifiers.org/hgnc/15923
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: Latino
population: South Asian
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: VQSLOD
site quality: MQ
site quality: ClippingRankSum

20-34319826-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319826
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319826
    reference: chr 20
allele count: 1
allele frequency: 8.240626287597857e-6
allele num: 121350
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.296+37A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.405A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.296+37A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*318+37A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.*36A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*246+37A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.866+37A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.511+37A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*246+37A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.296+37A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.265+37A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2411+37A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.296+37A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.296+37A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*246+37A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.296+37A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*246+37A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*224+37A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*246+37A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-176+37A>T
  variant of: http://identifiers.org/hgnc/15923
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: European (Finnish)
population: Latino
population: Other
population: European (Non-Finnish)
population: East Asian
population: South Asian
reference allele: T
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: BaseQRankSum
site quality: QD
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: DP
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/20-34319829-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319829
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319829
    reference: chr 20
allele count: 1
allele frequency: 8.241984669908513e-6
allele num: 121330
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.296+34G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.*33G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*246+34G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.511+34G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.296+34G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*224+34G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.402G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*246+34G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*246+34G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*246+34G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-176+34G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.296+34G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.265+34G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.296+34G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*246+34G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.866+34G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.296+34G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*318+34G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2411+34G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.296+34G>T
  variant of: http://identifiers.org/hgnc/15923
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Finnish)
population: Other
population: Latino
population: African
population: European (Non-Finnish)
reference allele: C
site quality: DP
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: QD
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum

20-34319843-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319843
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319843
    reference: chr 20
allele count: 1
allele frequency: 8.238996819747227e-6
allele num: 121374
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.296+20A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.*19A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.866+20A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.511+20A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2411+20A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*318+20A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*246+20A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.296+20A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.265+20A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*246+20A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.388A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*246+20A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.296+20A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*246+20A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.639A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-176+20A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.296+20A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*246+20A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*224+20A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.296+20A>G
  variant of: http://identifiers.org/hgnc/15923
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: Other
population: East Asian
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: T
site quality: FS
site quality: QD
site quality: MQ
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

20-34319845-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319845
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319845
    reference: chr 20
allele count: 1
allele frequency: 8.238861059847087e-6
allele num: 121376
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.511+18T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.296+18T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*246+18T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*318+18T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.866+18T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.386T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*246+18T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*224+18T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.265+18T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.637T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.*17T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.296+18T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2411+18T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.296+18T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*246+18T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*246+18T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*246+18T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-176+18T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.296+18T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.296+18T>C
  variant of: http://identifiers.org/hgnc/15923
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: South Asian
population: Latino
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: A
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff

20-34319846-T-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319846
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319846
    reference: chr 20
allele count: 3
allele frequency: 2.47161759132627e-5
allele num: 121378
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.296+17A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.385A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.511+17A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.*16A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*246+17A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.636A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.866+17A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*246+17A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*224+17A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*246+17A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-176+17A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*246+17A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.296+17A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*318+17A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.296+17A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.296+17A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.296+17A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.296+17A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.265+17A>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*246+17A>T
  variant of: http://identifiers.org/hgnc/15923
canonical: false
consequence: 3' UTR
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: East Asian
population: European (Finnish)
population: South Asian
reference allele: T
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: VQSLOD
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: DP
site quality: InbreedingCoeff

20-34319851-AT-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319851
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319850
    reference: chr 20
allele count: 1
allele frequency: 8.238318064983852e-6
allele num: 121384
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*246+11delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*246+11delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.*10delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*246+11delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.379delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.630delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2411+11delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*246+11delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.265+11delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.296+11delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*224+11delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.296+11delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.296+11delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*246+11delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.296+11delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*318+11delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.866+11delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-176+11delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.296+11delA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.511+11delA
  variant of: http://identifiers.org/hgnc/15923
canonical: false
consequence: 3' UTR
filter: VQSRTrancheINDEL97.00to99.00
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: South Asian
population: African
reference allele: AT
site quality: VQSLOD
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: FS
site quality: ClippingRankSum

20-34319863-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319863
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319863
    reference: chr 20
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2411A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-176A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*246A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*246A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.368A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*318A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.511A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.296A>G
  hgvsp: ENSP00000436747.2:p.Tyr99Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*246A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.296A>G
  hgvsp: ENSP00000354437.6:p.Tyr99Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.296A>G
  hgvsp: ENSP00000253363.6:p.Tyr99Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.866A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.265A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: splice_region_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.296A>G
  hgvsp: ENSP00000363150.3:p.Tyr99Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*246A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*224A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.619A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: splice_region_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*246A>G
  variant of: http://identifiers.org/hgnc/15923
canonical: false
consequence: stop lost
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ter87TrpextTer10
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: African
population: European (Finnish)
population: Other
population: Latino
reference allele: T
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: DP

20-34319866-G-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319866
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319866
    reference: chr 20
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.256C>G
  hgvsp: ENSP00000405916.1:p.Pro86Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.262C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2408C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*243C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.293C>G
  hgvsp: ENSP00000253363.6:p.Pro98Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.293C>G
  hgvsp: ENSP00000344581.6:p.Pro98Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.293C>G
  hgvsp: ENSP00000354437.6:p.Pro98Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.293C>G
  hgvsp: ENSP00000363150.3:p.Pro98Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.293C>G
  hgvsp: ENSP00000393493.1:p.Pro98Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*243C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.863C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.616C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.508C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*243C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-179C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*243C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*221C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*315C>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.293C>G
  hgvsp: ENSP00000436747.2:p.Pro98Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*243C>G
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Pro98Arg
num of homozygotes: 0
population: Other
population: African
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
reference allele: G
site quality: MQRankSum
site quality: DP
site quality: MQ
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: ReadPosRankSum
site quality: InbreedingCoeff

20-34319879-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319879
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319879
    reference: chr 20
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.280C>T
  hgvsp: ENSP00000393493.1:p.Arg94Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-192C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.280C>T
  hgvsp: ENSP00000253363.6:p.Arg94Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.243C>T
  hgvsp: ENSP00000405916.1:p.Arg82Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*230C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*230C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.280C>T
  hgvsp: ENSP00000363150.3:p.Arg94Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.280C>T
  hgvsp: ENSP00000436747.2:p.Arg94Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*230C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*285C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*208C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.249C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.280C>T
  hgvsp: ENSP00000354437.6:p.Arg94Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*230C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.280C>T
  hgvsp: ENSP00000344581.6:p.Arg94Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*302C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.850C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.603C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.352C>T
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg94Cys
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: G
site quality: MQRankSum
site quality: DP
site quality: ClippingRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-34319886-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319886
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319886
    reference: chr 20
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.488T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*295T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.236T>C
  hgvsp: ENST00000426951.1:c.236T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.273T>C
  hgvsp: ENST00000338163.6:c.273T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*223T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.273T>C
  hgvsp: ENST00000374038.3:c.273T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.273T>C
  hgvsp: ENST00000434927.1:c.273T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.242T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.273T>C
  hgvsp: ENST00000253363.6:c.273T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.273T>C
  hgvsp: ENST00000528062.3:c.273T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*223T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.273T>C
  hgvsp: ENST00000361162.6:c.273T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*223T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.596T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*201T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.843T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2388T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.345T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*278T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*223T>C
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Phe91Phe
num of homozygotes: 0
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: European (Finnish)
population: Other
reference allele: A
site quality: FS
site quality: BaseQRankSum
site quality: VQSLOD
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: InbreedingCoeff

20-34319894-G-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319894
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319894
    reference: chr 20
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.228C>A
  hgvsp: ENST00000426951.1:c.228C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*215C>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.265C>A
  hgvsp: ENST00000528062.3:c.265C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.337C>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-207C>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.265C>A
  hgvsp: ENST00000338163.6:c.265C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*215C>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.265C>A
  hgvsp: ENST00000253363.6:c.265C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*215C>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*270C>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.265C>A
  hgvsp: ENST00000361162.6:c.265C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.835C>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.265C>A
  hgvsp: ENST00000374038.3:c.265C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.265C>A
  hgvsp: ENST00000434927.1:c.265C>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*287C>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*193C>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.588C>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*215C>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2380C>A
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg89Arg
num of homozygotes: 0
population: South Asian
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: African
reference allele: G
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: InbreedingCoeff

20-34319896-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319896
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319896
    reference: chr 20
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*213A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.263A>G
  hgvsp: ENSP00000344581.6:p.Asp88Gly
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.263A>G
  hgvsp: ENSP00000363150.3:p.Asp88Gly
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.263A>G
  hgvsp: ENSP00000253363.6:p.Asp88Gly
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.586A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.226A>G
  hgvsp: ENSP00000405916.1:p.Asp76Gly
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.263A>G
  hgvsp: ENSP00000354437.6:p.Asp88Gly
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*213A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2378A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-209A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.833A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.263A>G
  hgvsp: ENSP00000393493.1:p.Asp88Gly
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*213A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.263A>G
  hgvsp: ENSP00000436747.2:p.Asp88Gly
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*213A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*285A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*268A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.335A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*191A>G
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp88Gly
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Other
population: Latino
population: African
reference allele: T
site quality: QD
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: MQ
site quality: BaseQRankSum

20-34319897-C-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319897
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319897
    reference: chr 20
allele count: 1
allele frequency: 8.236553825879253e-6
allele num: 121410
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.262G>C
  hgvsp: ENSP00000363150.3:p.Asp88His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.585G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.231G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.225G>C
  hgvsp: ENSP00000405916.1:p.Asp76His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.832G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.262G>C
  hgvsp: ENSP00000393493.1:p.Asp88His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.262G>C
  hgvsp: ENSP00000344581.6:p.Asp88His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*212G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.477G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.262G>C
  hgvsp: ENSP00000354437.6:p.Asp88His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*267G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.262G>C
  hgvsp: ENSP00000253363.6:p.Asp88His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-210G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.262G>C
  hgvsp: ENSP00000436747.2:p.Asp88His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*212G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*190G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2377G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*212G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.334G>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*212G>C
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Asp88His
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
reference allele: C
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ

20-34319911-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319911
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319911
    reference: chr 20
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: T
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.248G>A
  hgvsp: ENSP00000253363.6:p.Arg83His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.818G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*198G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.211G>A
  hgvsp: ENSP00000405916.1:p.Arg71His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*198G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.248G>A
  hgvsp: ENSP00000363150.3:p.Arg83His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.320G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.248G>A
  hgvsp: ENSP00000436747.2:p.Arg83His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.248G>A
  hgvsp: ENSP00000393493.1:p.Arg83His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*198G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*176G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*253G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.248G>A
  hgvsp: ENSP00000354437.6:p.Arg83His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-224G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.248G>A
  hgvsp: ENSP00000344581.6:p.Arg83His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*270G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.463G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*198G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.217G>A
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg83His
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: QD
site quality: MQRankSum
site quality: MQ
site quality: FS
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: DP
site quality: VQSLOD

20-34319912-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319912
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319912
    reference: chr 20
allele count: 6
allele frequency: 4.941932295527551e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.247C>T
  hgvsp: ENSP00000253363.6:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.247C>T
  hgvsp: ENSP00000363150.3:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*269C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*197C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.210C>T
  hgvsp: ENSP00000405916.1:p.Arg71Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.247C>T
  hgvsp: ENSP00000393493.1:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.570C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*175C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.319C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.817C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.247C>T
  hgvsp: ENSP00000436747.2:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.462C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.247C>T
  hgvsp: ENSP00000354437.6:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*197C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-225C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*252C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.247C>T
  hgvsp: ENSP00000344581.6:p.Arg83Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*197C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.216C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*197C>T
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg83Cys
num of homozygotes: 0
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: Other
reference allele: G
site quality: BaseQRankSum
site quality: QD
site quality: ClippingRankSum
site quality: VQSLOD
site quality: FS
site quality: MQ
site quality: ReadPosRankSum
site quality: DP
site quality: MQRankSum
site quality: InbreedingCoeff

http://identifiers.org/exac.variant/20-34319916-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319916
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319916
    reference: chr 20
allele count: 2
allele frequency: 1.647310765175851e-5
allele num: 121410
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*193G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*193G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.813G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.243G>T
  hgvsp: ENST00000253363.6:c.243G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.243G>T
  hgvsp: ENST00000361162.6:c.243G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.206G>T
  hgvsp: ENST00000426951.1:c.206G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*248G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.243G>T
  hgvsp: ENST00000374038.3:c.243G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.315G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.212G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.243G>T
  hgvsp: ENST00000434927.1:c.243G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-229G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*193G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.243G>T
  hgvsp: ENST00000338163.6:c.243G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.243G>T
  hgvsp: ENST00000528062.3:c.243G>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*171G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*193G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*265G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.458G>T
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg81Arg
num of homozygotes: 0
population: Latino
population: African
population: Other
population: South Asian
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
reference allele: C
site quality: ClippingRankSum
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

20-34319918-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319918
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319918
    reference: chr 20
allele count: 2
allele frequency: 1.647337901950448e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*263C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.241C>T
  hgvsp: ENSP00000344581.6:p.Arg81Trp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*169C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*191C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.241C>T
  hgvsp: ENSP00000354437.6:p.Arg81Trp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.241C>T
  hgvsp: ENSP00000436747.2:p.Arg81Trp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.313C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.241C>T
  hgvsp: ENSP00000393493.1:p.Arg81Trp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*191C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.241C>T
  hgvsp: ENSP00000363150.3:p.Arg81Trp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.210C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.241C>T
  hgvsp: ENSP00000253363.6:p.Arg81Trp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2356C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.456C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*246C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*191C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-231C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.811C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.564C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.204C>T
  hgvsp: ENSP00000405916.1:p.Arg69Trp
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg81Trp
num of homozygotes: 0
population: Other
population: Latino
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: European (Non-Finnish)
reference allele: G
site quality: InbreedingCoeff
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: VQSLOD
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-34319920-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319920
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319920
    reference: chr 20
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-233G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.562G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.809G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.239G>A
  hgvsp: ENSP00000253363.6:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*189G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.239G>A
  hgvsp: ENSP00000436747.2:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.454G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*167G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.239G>A
  hgvsp: ENSP00000363150.3:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2354G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*189G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*244G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*261G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*189G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.311G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.202G>A
  hgvsp: ENSP00000405916.1:p.Arg68Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.239G>A
  hgvsp: ENSP00000354437.6:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*189G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.239G>A
  hgvsp: ENSP00000393493.1:p.Arg80Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.208G>A
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg80Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: East Asian
population: South Asian
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: QD
site quality: DP
site quality: MQ

http://identifiers.org/exac.variant/20-34319925-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319925
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319925
    reference: chr 20
allele count: 11
allele frequency: 9.060358460727464e-5
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.234G>T
  hgvsp: ENSP00000344581.6:p.Glu78Asp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*239G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*256G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*162G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*184G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.197G>T
  hgvsp: ENSP00000405916.1:p.Glu66Asp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.234G>T
  hgvsp: ENSP00000393493.1:p.Glu78Asp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.234G>T
  hgvsp: ENSP00000354437.6:p.Glu78Asp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.804G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*184G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-238G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*184G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.234G>T
  hgvsp: ENSP00000363150.3:p.Glu78Asp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.234G>T
  hgvsp: ENSP00000436747.2:p.Glu78Asp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.449G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.234G>T
  hgvsp: ENSP00000253363.6:p.Glu78Asp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*184G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.557G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.203G>T
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu78Asp
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: C
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: MQ
site quality: ClippingRankSum
site quality: QD
site quality: VQSLOD
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/20-34319935-C-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319935
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319935
    reference: chr 20
allele count: 1
allele frequency: 8.236689509752241e-6
allele num: 121408
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.193G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.224G>T
  hgvsp: ENSP00000344581.6:p.Arg75Ile
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.439G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.187G>T
  hgvsp: ENSP00000405916.1:p.Arg63Ile
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.224G>T
  hgvsp: ENSP00000354437.6:p.Arg75Ile
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.547G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.224G>T
  hgvsp: ENSP00000436747.2:p.Arg75Ile
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*246G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*174G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-248G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*174G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.224G>T
  hgvsp: ENSP00000363150.3:p.Arg75Ile
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*152G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.224G>T
  hgvsp: ENSP00000393493.1:p.Arg75Ile
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*174G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.296G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2339G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.224G>T
  hgvsp: ENSP00000253363.6:p.Arg75Ile
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*174G>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*174G>T
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg75Ile
num of homozygotes: 0
population: Latino
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: Other
reference allele: C
site quality: FS
site quality: MQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: QD

20-34319941-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319941
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319941
    reference: chr 20
allele count: 3
allele frequency: 2.471047559428694e-5
allele num: 121406
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.788G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-254G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.433G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.218G>A
  hgvsp: ENSP00000436747.2:p.Arg73Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*240G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*168G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*146G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*168G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.181G>A
  hgvsp: ENSP00000405916.1:p.Arg61Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.218G>A
  hgvsp: ENSP00000344581.6:p.Arg73Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.218G>A
  hgvsp: ENSP00000393493.1:p.Arg73Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*168G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.218G>A
  hgvsp: ENSP00000363150.3:p.Arg73Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.218G>A
  hgvsp: ENSP00000354437.6:p.Arg73Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.187G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*168G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.541G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.218G>A
  hgvsp: ENSP00000253363.6:p.Arg73Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*223G>A
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg73Gln
num of homozygotes: 0
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Other
population: African
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: DP
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: ReadPosRankSum
site quality: ClippingRankSum

20-34319944-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319944
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319944
    reference: chr 20
allele count: 1
allele frequency: 8.236825198095647e-6
allele num: 121406
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2330A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.215A>G
  hgvsp: ENSP00000354437.6:p.Lys72Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.178A>G
  hgvsp: ENSP00000405916.1:p.Lys60Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.184A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.215A>G
  hgvsp: ENSP00000363150.3:p.Lys72Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*165A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.215A>G
  hgvsp: ENSP00000344581.6:p.Lys72Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.215A>G
  hgvsp: ENSP00000393493.1:p.Lys72Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*165A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*165A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-257A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*237A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.287A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.215A>G
  hgvsp: ENSP00000253363.6:p.Lys72Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.215A>G
  hgvsp: ENSP00000436747.2:p.Lys72Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*165A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.430A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.538A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*165A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*143A>G
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys72Arg
num of homozygotes: 0
population: Latino
population: South Asian
population: European (Non-Finnish)
population: African
population: European (Finnish)
population: East Asian
population: Other
reference allele: T
site quality: DP
site quality: QD
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ClippingRankSum
site quality: InbreedingCoeff

20-34319953-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319953
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319953
    reference: chr 20
allele count: 9
allele frequency: 7.413509060955519e-5
allele num: 121400
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.278G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*156G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.175G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.206G>A
  hgvsp: ENSP00000363150.3:p.Arg69His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*156G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.206G>A
  hgvsp: ENSP00000253363.6:p.Arg69His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*228G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*134G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.776G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.206G>A
  hgvsp: ENSP00000354437.6:p.Arg69His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.206G>A
  hgvsp: ENSP00000436747.2:p.Arg69His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.529G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.206G>A
  hgvsp: ENSP00000344581.6:p.Arg69His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.421G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-266G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*156G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*156G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2321G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.169G>A
  hgvsp: ENSP00000405916.1:p.Arg57His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.206G>A
  hgvsp: ENSP00000393493.1:p.Arg69His
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg69His
num of homozygotes: 0
population: African
population: European (Finnish)
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
population: South Asian
reference allele: C
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: DP
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ClippingRankSum

20-34319968-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319968
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319968
    reference: chr 20
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.191A>G
  hgvsp: ENSP00000354437.6:p.Lys64Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.514A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*141A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*119A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.154A>G
  hgvsp: ENSP00000405916.1:p.Lys52Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*141A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*198A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*213A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.406A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.191A>G
  hgvsp: ENSP00000436747.2:p.Lys64Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.191A>G
  hgvsp: ENSP00000344581.6:p.Lys64Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.191A>G
  hgvsp: ENSP00000393493.1:p.Lys64Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*141A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.191A>G
  hgvsp: ENSP00000363150.3:p.Lys64Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.191A>G
  hgvsp: ENSP00000253363.6:p.Lys64Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.761A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.263A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*141A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*141A>G
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys64Arg
num of homozygotes: 0
population: European (Finnish)
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: African
population: Latino
population: Other
reference allele: T
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ReadPosRankSum

20-34319973-TTC-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319973
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319971
    reference: chr 20
allele count: 1
allele frequency: 8.236960890909689e-6
allele num: 121404
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*134_*135delGA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.507_508delGA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.184_185delGA
  hgvsp: ENSP00000253363.6:p.Glu62LysfsTer8
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.754_755delGA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*189_*190delGA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*206_*207delGA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.256_257delGA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.184_185delGA
  hgvsp: ENSP00000344581.6:p.Glu62LysfsTer8
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.153_154delGA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.147_148delGA
  hgvsp: ENSP00000405916.1:p.Glu50LysfsTer8
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*191_*192delGA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.184_185delGA
  hgvsp: ENSP00000436747.2:p.Glu62LysfsTer8
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*112_*113delGA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*134_*135delGA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*134_*135delGA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.184_185delGA
  hgvsp: ENSP00000354437.6:p.Glu62LysfsTer8
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.184_185delGA
  hgvsp: ENSP00000393493.1:p.Glu62LysfsTer8
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*134_*135delGA
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.184_185delGA
  hgvsp: ENSP00000363150.3:p.Glu62LysfsTer8
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.00to99.50
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Glu62LysfsTer8
num of homozygotes: 0
population: South Asian
population: African
population: Other
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: Latino
reference allele: TTC
site quality: VQSLOD
site quality: MQRankSum
site quality: BaseQRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum

20-34319978-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319978
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319978
    reference: chr 20
allele count: 1
allele frequency: 8.237096588194593e-6
allele num: 121402
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.144A>G
  hgvsp: ENSP00000405916.1:p.Arg49Gly
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.181A>G
  hgvsp: ENSP00000253363.6:p.Arg61Gly
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.396A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*203A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.181A>G
  hgvsp: ENSP00000436747.2:p.Arg61Gly
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*131A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.751A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-291A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.181A>G
  hgvsp: ENSP00000393493.1:p.Arg61Gly
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.181A>G
  hgvsp: ENSP00000363150.3:p.Arg61Gly
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.150A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*131A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*188A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.181A>G
  hgvsp: ENSP00000344581.6:p.Arg61Gly
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.181A>G
  hgvsp: ENSP00000354437.6:p.Arg61Gly
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*131A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*131A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*186A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*109A>G
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg61Gly
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Non-Finnish)
population: Latino
population: European (Finnish)
population: Other
reference allele: T
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: QD
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: MQ

20-34319995-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319995
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319995
    reference: chr 20
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.236G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*171G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.164G>A
  hgvsp: ENSP00000393493.1:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2279G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.357G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.164G>A
  hgvsp: ENSP00000436747.2:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*169G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-308G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*92G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.164G>A
  hgvsp: ENSP00000354437.6:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.133G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*114G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.164G>A
  hgvsp: ENSP00000344581.6:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.379G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.164G>A
  hgvsp: ENSP00000363150.3:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*114G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*186G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.127G>A
  hgvsp: ENSP00000405916.1:p.Arg43Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.164G>A
  hgvsp: ENSP00000253363.6:p.Arg55Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.487G>A
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg55Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: European (Finnish)
population: Latino
population: South Asian
population: East Asian
population: African
population: Other
reference allele: C
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: FS
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: DP
site quality: ReadPosRankSum

20-34319996-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34319996
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34319996
    reference: chr 20
allele count: 1
allele frequency: 8.237910865804433e-6
allele num: 121390
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.163C>T
  hgvsp: ENSP00000436747.2:p.Arg55Trp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.733C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.163C>T
  hgvsp: ENSP00000363150.3:p.Arg55Trp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.163C>T
  hgvsp: ENSP00000354437.6:p.Arg55Trp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.126C>T
  hgvsp: ENSP00000405916.1:p.Arg43Trp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.163C>T
  hgvsp: ENSP00000253363.6:p.Arg55Trp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.132C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.163C>T
  hgvsp: ENSP00000393493.1:p.Arg55Trp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*91C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*113C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*113C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-309C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*168C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.378C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.163C>T
  hgvsp: ENSP00000344581.6:p.Arg55Trp
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*113C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*170C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.486C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*113C>T
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg55Trp
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: East Asian
population: South Asian
population: Latino
population: Other
reference allele: G
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD

20-34320002-T-TAGTATGTA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320002
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320010
    reference: chr 20
allele count: 1
allele frequency: 8.237367996177861e-6
allele num: 121398
alternate allele: TAGTATGTA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.156_157insTACATACT
  hgvsp: ENSP00000436747.2:p.Lys53TyrfsTer67
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*84_*85insTACATACT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.119_120insTACATACT
  hgvsp: ENSP00000405916.1:p.Lys41TyrfsTer52
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.156_157insTACATACT
  hgvsp: ENSP00000253363.6:p.Lys53TyrfsTer71
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.156_157insTACATACT
  hgvsp: ENSP00000393493.1:p.Lys53TyrfsTer71
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.479_480insTACATACT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.156_157insTACATACT
  hgvsp: ENSP00000344581.6:p.Lys53TyrfsTer71
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.125_126insTACATACT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.156_157insTACATACT
  hgvsp: ENSP00000354437.6:p.Lys53TyrfsTer71
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.156_157insTACATACT
  hgvsp: ENSP00000363150.3:p.Lys53TyrfsTer71
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.371_372insTACATACT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.349_350insTACATACT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.726_727insTACATACT
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys53TyrfsTer71
num of homozygotes: 0
population: European (Finnish)
population: South Asian
population: African
population: East Asian
population: Latino
population: Other
population: European (Non-Finnish)
reference allele: T
site quality: QD
site quality: MQ
site quality: FS
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-34320004-C-CTATAGTTATGA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320004
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320015
    reference: chr 20
allele count: 1
allele frequency: 8.237503706876667e-6
allele num: 121396
alternate allele: CTATAGTTATGA
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsp: ENSP00000344581.6:p.Ser52IlefsTer73
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsp: ENSP00000436747.2:p.Ser52IlefsTer69
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsp: ENSP00000354437.6:p.Ser52IlefsTer73
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsp: ENSP00000405916.1:p.Ser40IlefsTer54
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsp: ENSP00000363150.3:p.Ser52IlefsTer73
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: frameshift_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsp: ENSP00000393493.1:p.Ser52IlefsTer73
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: frameshift_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsp: ENSP00000253363.6:p.Ser52IlefsTer73
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: frameshift
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser52IlefsTer73
num of homozygotes: 0
population: African
population: European (Finnish)
population: European (Non-Finnish)
population: South Asian
population: Latino
population: Other
population: East Asian
reference allele: C
site quality: FS
site quality: MQ
site quality: DP
site quality: ClippingRankSum
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: BaseQRankSum

20-34320009-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320009
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320009
    reference: chr 20
allele count: 1
allele frequency: 8.237775141689733e-6
allele num: 121392
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.473C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*172C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*100C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.150C>T
  hgvsp: ENST00000434927.1:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*78C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-322C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.113C>T
  hgvsp: ENST00000426951.1:c.113C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.150C>T
  hgvsp: ENST00000374038.3:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.150C>T
  hgvsp: ENST00000338163.6:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*100C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.343C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*100C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.150C>T
  hgvsp: ENST00000528062.3:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.150C>T
  hgvsp: ENST00000253363.6:c.150C>T(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2265C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*155C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*100C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*100C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.365C>T
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Ser50Ser
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
population: African
population: East Asian
population: Other
reference allele: G
site quality: QD
site quality: MQ
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: ReadPosRankSum

20-34320019-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320019
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320019
    reference: chr 20
allele count: 1
allele frequency: 8.237639422047218e-6
allele num: 121394
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*90G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.140G>A
  hgvsp: ENSP00000354437.6:p.Arg47Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*68G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.140G>A
  hgvsp: ENSP00000253363.6:p.Arg47Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*147G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.140G>A
  hgvsp: ENSP00000363150.3:p.Arg47Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*145G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.140G>A
  hgvsp: ENSP00000344581.6:p.Arg47Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.140G>A
  hgvsp: ENSP00000436747.2:p.Arg47Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.710G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-332G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*90G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*90G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.140G>A
  hgvsp: ENSP00000393493.1:p.Arg47Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2255G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*90G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.212G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.103G>A
  hgvsp: ENSP00000405916.1:p.Arg35Gln
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.333G>A
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg47Gln
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: East Asian
population: Latino
population: European (Finnish)
population: African
population: Other
reference allele: C
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: QD
site quality: MQ
site quality: FS
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: DP

20-34320024-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320024
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320024
    reference: chr 20
allele count: 2
allele frequency: 1.647555028337947e-5
allele num: 121392
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-337T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.135T>C
  hgvsp: ENST00000374038.3:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.135T>C
  hgvsp: ENST00000528062.3:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.135T>C
  hgvsp: ENST00000338163.6:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*63T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*142T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*85T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.135T>C
  hgvsp: ENST00000434927.1:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.135T>C
  hgvsp: ENST00000361162.6:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*85T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*140T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.207T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.135T>C
  hgvsp: ENST00000253363.6:c.135T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.705T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.98T>C
  hgvsp: ENST00000426951.1:c.98T>C(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*85T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.328T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.458T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.104T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.350T>C
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.His45His
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: South Asian
population: African
reference allele: A
site quality: BaseQRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: QD
site quality: FS
site quality: ClippingRankSum
site quality: DP
site quality: MQ
site quality: MQRankSum

20-34320031-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320031
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320031
    reference: chr 20
allele count: 2
allele frequency: 1.64766361299677e-5
allele num: 121384
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.200G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*133G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*135G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.128G>A
  hgvsp: ENSP00000436747.2:p.Arg43His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.451G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.128G>A
  hgvsp: ENSP00000344581.6:p.Arg43His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.97G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*78G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*78G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*150G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.128G>A
  hgvsp: ENSP00000354437.6:p.Arg43His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*78G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.128G>A
  hgvsp: ENSP00000253363.6:p.Arg43His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.91G>A
  hgvsp: ENSP00000405916.1:p.Arg31His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.128G>A
  hgvsp: ENSP00000363150.3:p.Arg43His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-344G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*56G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.128G>A
  hgvsp: ENSP00000393493.1:p.Arg43His
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*78G>A
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg43His
num of homozygotes: 0
population: African
population: East Asian
population: Other
population: European (Non-Finnish)
population: South Asian
population: Latino
population: European (Finnish)
reference allele: C
site quality: BaseQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: ClippingRankSum
site quality: VQSLOD
site quality: MQ
site quality: QD

20-34320032-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320032
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320032
    reference: chr 20
allele count: 1
allele frequency: 8.238453806989504e-6
allele num: 121382
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.127C>T
  hgvsp: ENSP00000363150.3:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.90C>T
  hgvsp: ENSP00000405916.1:p.Arg31Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*77C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.199C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.320C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*77C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.127C>T
  hgvsp: ENSP00000354437.6:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.127C>T
  hgvsp: ENSP00000393493.1:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.127C>T
  hgvsp: ENSP00000436747.2:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*77C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2242C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.127C>T
  hgvsp: ENSP00000253363.6:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.697C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*132C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-345C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.450C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*55C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.127C>T
  hgvsp: ENSP00000344581.6:p.Arg43Cys
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.342C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.96C>T
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg43Cys
num of homozygotes: 0
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
population: African
population: East Asian
population: Other
population: Latino
reference allele: G
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: FS
site quality: MQ
site quality: DP
site quality: ReadPosRankSum
site quality: QD
site quality: MQRankSum
site quality: VQSLOD
site quality: InbreedingCoeff

20-34320036-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320036
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320036
    reference: chr 20
allele count: 1
allele frequency: 8.238046594391538e-6
allele num: 121388
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*73A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.123A>G
  hgvsp: ENST00000374038.3:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.693A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*51A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.123A>G
  hgvsp: ENST00000361162.6:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*73A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.123A>G
  hgvsp: ENST00000434927.1:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2238A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*130A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.316A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.123A>G
  hgvsp: ENST00000338163.6:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-349A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.123A>G
  hgvsp: ENST00000253363.6:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.123A>G
  hgvsp: ENST00000528062.3:c.123A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.338A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*145A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.195A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*128A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*73A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.86A>G
  hgvsp: ENST00000426951.1:c.86A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Arg41Arg
num of homozygotes: 0
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: African
population: South Asian
population: Other
population: Latino
reference allele: T
site quality: VQSLOD
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: MQ
site quality: InbreedingCoeff
site quality: QD
site quality: ClippingRankSum

20-34320042-C-T
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320042
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320042
    reference: chr 20
allele count: 1
allele frequency: 8.239268352970255e-6
allele num: 121370
alternate allele: T
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.117G>A
  hgvsp: ENST00000361162.6:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.117G>A
  hgvsp: ENST00000528062.3:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.687G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.332G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.80G>A
  hgvsp: ENST00000426951.1:c.80G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-355G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*67G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.117G>A
  hgvsp: ENST00000434927.1:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*45G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*139G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*67G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.117G>A
  hgvsp: ENST00000374038.3:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.117G>A
  hgvsp: ENST00000253363.6:c.117G>A(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2232G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*67G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*67G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.189G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.86G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*122G>A
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*67G>A
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys39Lys
num of homozygotes: 0
population: European (Finnish)
population: European (Non-Finnish)
population: Latino
population: African
population: South Asian
population: Other
population: East Asian
reference allele: C
site quality: DP
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQRankSum
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: MQ

20-34320051-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320051
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320051
    reference: chr 20
allele count: 1
allele frequency: 8.240897928238261e-6
allele num: 121346
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*113A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*58A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.108A>G
  hgvsp: ENST00000361162.6:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.678A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.108A>G
  hgvsp: ENST00000338163.6:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.431A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*58A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*115A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.301A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.323A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.180A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.108A>G
  hgvsp: ENST00000374038.3:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.71A>G
  hgvsp: ENST00000426951.1:c.71A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.108A>G
  hgvsp: ENST00000528062.3:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.108A>G
  hgvsp: ENST00000253363.6:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*36A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*130A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: synonymous_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.108A>G
  hgvsp: ENST00000434927.1:c.108A>G(p.%3D)
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-364A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2223A>G
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: synonymous
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys36Lys
num of homozygotes: 0
population: European (Non-Finnish)
population: Latino
population: South Asian
population: East Asian
population: Other
population: African
population: European (Finnish)
reference allele: T
site quality: ClippingRankSum
site quality: BaseQRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: FS
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: VQSLOD

20-34320052-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320052
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320052
    reference: chr 20
allele count: 3
allele frequency: 2.472350876036327e-5
allele num: 121342
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.107A>G
  hgvsp: ENSP00000436747.2:p.Lys36Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*57A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.107A>G
  hgvsp: ENSP00000253363.6:p.Lys36Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*57A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.107A>G
  hgvsp: ENSP00000344581.6:p.Lys36Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*57A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.107A>G
  hgvsp: ENSP00000393493.1:p.Lys36Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*114A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*129A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*112A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*57A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.107A>G
  hgvsp: ENSP00000354437.6:p.Lys36Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-365A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.300A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.70A>G
  hgvsp: ENSP00000405916.1:p.Lys24Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*35A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.107A>G
  hgvsp: ENSP00000363150.3:p.Lys36Arg
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.76A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2222A>G
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys36Arg
num of homozygotes: 0
population: African
population: Latino
population: Other
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: European (Finnish)
reference allele: T
site quality: ReadPosRankSum
site quality: FS
site quality: BaseQRankSum
site quality: DP
site quality: MQ
site quality: ClippingRankSum
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD

20-34320053-T-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320053
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320053
    reference: chr 20
allele count: 1
allele frequency: 8.252731654177533e-6
allele num: 121172
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*111A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.106A>G
  hgvsp: ENSP00000344581.6:p.Lys36Glu
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.106A>G
  hgvsp: ENSP00000253363.6:p.Lys36Glu
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*56A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.178A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.69A>G
  hgvsp: ENSP00000405916.1:p.Lys24Glu
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.75A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*56A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 5_prime_UTR_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-366A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.106A>G
  hgvsp: ENSP00000363150.3:p.Lys36Glu
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.106A>G
  hgvsp: ENSP00000354437.6:p.Lys36Glu
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.106A>G
  hgvsp: ENSP00000436747.2:p.Lys36Glu
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.429A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*113A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*34A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: missense_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.106A>G
  hgvsp: ENSP00000393493.1:p.Lys36Glu
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*56A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.299A>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: 3_prime_UTR_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*56A>G
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: missense
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: p.Lys36Glu
num of homozygotes: 0
population: Other
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Latino
population: African
population: European (Finnish)
reference allele: T
site quality: DP
site quality: MQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: BaseQRankSum
site quality: ReadPosRankSum

20-34320059-T-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320059
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320059
    reference: chr 20
allele count: 1
allele frequency: 8.244430886935875e-6
allele num: 121294
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*52-2A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*107-2A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*30-2A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.102-2A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.174-2A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*52-2A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*124-2A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.295-2A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.670A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*52-2A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.317-2A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.425-2A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.65-2A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: non_coding_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.71-2A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.102-2A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.102-2A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.102-2A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-370-2A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*52-2A>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_acceptor_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*109-2A>C
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: splice acceptor
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.102-2A>C
num of homozygotes: 0
population: Latino
population: East Asian
population: European (Finnish)
population: South Asian
population: European (Non-Finnish)
population: African
population: Other
reference allele: T
site quality: MQ
site quality: QD
site quality: DP
site quality: BaseQRankSum
site quality: FS
site quality: VQSLOD
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: InbreedingCoeff
site quality: ClippingRankSum

20-34320062-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320062
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320062
    reference: chr 20
allele count: 2
allele frequency: 1.653165812530997e-5
allele num: 120980
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.71-5C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-370-5C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*52-5C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2217-5C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.425-5C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.102-5C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*52-5C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*124-5C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.102-5C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.102-5C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*52-5C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.317-5C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.102-5C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.65-5C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*52-5C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.295-5C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*52-5C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.102-5C>T
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: splice region
filter: VQSRTrancheSNP99.60to99.80
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.102-5C>T
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: Other
population: European (Finnish)
population: European (Non-Finnish)
population: East Asian
reference allele: G
site quality: BaseQRankSum
site quality: DP
site quality: InbreedingCoeff
site quality: VQSLOD
site quality: MQRankSum
site quality: QD
site quality: FS
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQ

20-34320063-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320063
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320063
    reference: chr 20
allele count: 6
allele frequency: 4.947392724034434e-5
allele num: 121276
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.102-6T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*52-6T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.666T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.102-6T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*30-6T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.425-6T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.102-6T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.174-6T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*52-6T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*52-6T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*52-6T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.295-6T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*107-6T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-370-6T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.71-6T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.65-6T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.102-6T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*109-6T>C
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.102-6T>C
num of homozygotes: 0
population: African
population: South Asian
population: East Asian
population: European (Finnish)
population: European (Non-Finnish)
population: Other
population: Latino
reference allele: A
site quality: DP
site quality: FS
site quality: MQRankSum
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: QD
site quality: MQ
site quality: InbreedingCoeff
site quality: ClippingRankSum
site quality: VQSLOD

http://identifiers.org/exac.variant/20-34320064-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320064
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320064
    reference: chr 20
allele count: 1
allele frequency: 8.246470510621453e-6
allele num: 121264
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.102-7T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*52-7T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.295-7T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*107-7T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*52-7T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.174-7T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.425-7T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*30-7T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.317-7T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.65-7T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*52-7T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*124-7T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.102-7T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-370-7T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.71-7T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2217-7T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.102-7T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.102-7T>G
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: splice region
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.102-7T>G
num of homozygotes: 0
population: East Asian
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: South Asian
population: Other
reference allele: A
site quality: BaseQRankSum
site quality: VQSLOD
site quality: FS
site quality: DP
site quality: InbreedingCoeff
site quality: MQ
site quality: ReadPosRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: QD

20-34320065-G-A
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320065
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320065
    reference: chr 20
allele count: 67
allele frequency: 5.618448637316562e-4
allele num: 119250
alternate allele: A
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.65-8C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.102-8C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.317-8C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.102-8C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*30-8C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.102-8C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*52-8C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.425-8C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.102-8C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.664C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*52-8C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-370-8C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*124-8C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.71-8C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.102-8C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: splice_region_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.174-8C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*52-8C>T
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: splice_region_variant
  consequence: intron_variant
  consequence: NMD_transcript_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*109-8C>T
  variant of: http://identifiers.org/hgnc/15923
canonical: true
consequence: splice region
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
hgvs: c.102-8C>T
num of homozygotes: 0
population: European (Finnish)
population: Latino
population: European (Non-Finnish)
population: African
population: East Asian
population: Other
population: South Asian
reference allele: G
site quality: VQSLOD
site quality: FS
site quality: BaseQRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: ReadPosRankSum
site quality: MQ
site quality: ClippingRankSum
site quality: DP
site quality: QD

20-34320065-G-GAAA
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320065
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320068
    reference: chr 20
allele count: 2
allele frequency: 1.677148846960168e-5
allele num: 119250
alternate allele: GAAA
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*109-11_*109-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.102-11_102-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.174-11_174-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.661_663dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.102-11_102-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.317-11_317-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.425-11_425-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.71-11_71-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*52-11_*52-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*52-11_*52-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*52-11_*52-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.65-11_65-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*52-11_*52-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.102-11_102-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*30-11_*30-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*124-11_*124-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2217-11_2217-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.102-11_102-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*107-11_*107-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*52-11_*52-9dupTTT
  variant of: http://identifiers.org/hgnc/15923
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: South Asian
population: Latino
population: African
population: East Asian
population: European (Non-Finnish)
population: European (Finnish)
population: Other
reference allele: G
site quality: ReadPosRankSum
site quality: QD
site quality: ClippingRankSum
site quality: MQ
site quality: MQRankSum
site quality: DP
site quality: FS
site quality: VQSLOD
site quality: BaseQRankSum
site quality: InbreedingCoeff

20-34320065-GA-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320065
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320064
    reference: chr 20
allele count: 1
allele frequency: 8.385744234800838e-6
allele num: 119250
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.102-9delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.102-9delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.663delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.174-9delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.295-9delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*107-9delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*52-9delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.317-9delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-370-9delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*52-9delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*52-9delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.71-9delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*124-9delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2217-9delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.102-9delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.102-9delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*30-9delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*52-9delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.65-9delT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.425-9delT
  variant of: http://identifiers.org/hgnc/15923
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: Latino
population: Other
population: African
population: European (Non-Finnish)
population: South Asian
population: European (Finnish)
reference allele: GA
site quality: MQRankSum
site quality: BaseQRankSum
site quality: VQSLOD
site quality: MQ
site quality: InbreedingCoeff
site quality: FS
site quality: ClippingRankSum
site quality: QD
site quality: ReadPosRankSum
site quality: DP

20-34320066-A-G
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320066
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320066
    reference: chr 20
allele count: 2
allele frequency: 1.649729444371123e-5
allele num: 121232
alternate allele: G
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*52-9T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.663T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.102-9T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*52-9T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2217-9T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.102-9T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*52-9T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*109-9T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.295-9T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.102-9T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*52-9T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.425-9T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*52-9T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.71-9T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.174-9T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.102-9T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.65-9T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.102-9T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*124-9T>C
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*107-9T>C
  variant of: http://identifiers.org/hgnc/15923
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: East Asian
population: South Asian
population: European (Non-Finnish)
population: Other
population: Latino
population: European (Finnish)
population: African
reference allele: A
site quality: QD
site quality: DP
site quality: ReadPosRankSum
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQRankSum
site quality: InbreedingCoeff
site quality: MQ
site quality: VQSLOD
site quality: FS

http://identifiers.org/exac.variant/20-34320070-A-C
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320070
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320070
    reference: chr 20
allele count: 1
allele frequency: 8.251097395953662e-6
allele num: 121196
alternate allele: C
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*30-13T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.295-13T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.317-13T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*52-13T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*107-13T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000477334
  gene symbol: RBM39
  hgvsc: ENST00000477334.1:n.174-13T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2217-13T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*52-13T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*52-13T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*124-13T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.102-13T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.102-13T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.659T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*52-13T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.102-13T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.65-13T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.71-13T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*52-13T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.102-13T>G
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.425-13T>G
  variant of: http://identifiers.org/hgnc/15923
canonical: false
consequence: non coding transcript exon
filter: PASS
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: African
population: Latino
population: European (Finnish)
population: East Asian
population: European (Non-Finnish)
population: South Asian
population: Other
reference allele: A
site quality: QD
site quality: BaseQRankSum
site quality: ClippingRankSum
site quality: MQ
site quality: ReadPosRankSum
site quality: VQSLOD
site quality: InbreedingCoeff
site quality: FS
site quality: MQRankSum
site quality: DP

http://identifiers.org/exac.variant/20-34320072-A-AAAAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320072
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320076
    reference: chr 20
allele count: 2
allele frequency: 1.662565671344018e-5
allele num: 120296
alternate allele: AAAAC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2217-16_2217-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*124-16_*124-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*107-16_*107-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.317-16_317-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.102-16_102-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.425-16_425-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*52-16_*52-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.65-16_65-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.102-16_102-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*52-16_*52-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*30-16_*30-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.71-16_71-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.102-16_102-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.656_657insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*52-16_*52-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.295-16_295-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.102-16_102-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-370-16_-370-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*52-16_*52-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.102-16_102-15insGTTT
  variant of: http://identifiers.org/hgnc/15923
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: Latino
population: African
population: European (Non-Finnish)
population: European (Finnish)
population: East Asian
population: South Asian
population: Other
reference allele: A
site quality: VQSLOD
site quality: QD
site quality: ReadPosRankSum
site quality: DP
site quality: ClippingRankSum
site quality: FS
site quality: InbreedingCoeff
site quality: MQRankSum
site quality: BaseQRankSum
site quality: MQ

http://identifiers.org/exac.variant/20-34320072-A-AAAC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320072
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320075
    reference: chr 20
allele count: 1
allele frequency: 8.31282835672009e-6
allele num: 120296
alternate allele: AAAC
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*109-16_*109-15insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*30-16_*30-15insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*52-16_*52-15insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.656_657insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2217-16_2217-15insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*107-16_*107-15insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*52-16_*52-15insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*52-16_*52-15insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*124-16_*124-15insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.102-16_102-15insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.102-16_102-15insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.317-16_317-15insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*52-16_*52-15insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.65-16_65-15insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.71-16_71-15insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.102-16_102-15insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000436747
  ensembl transcript: ENST00000528062
  gene symbol: RBM39
  hgvsc: ENST00000528062.3:c.102-16_102-15insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000442447
  gene symbol: RBM39
  hgvsc: ENST00000442447.1:n.425-16_425-15insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.295-16_295-15insGTT
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000354437
  ensembl transcript: ENST00000361162
  gene symbol: RBM39
  hgvsc: ENST00000361162.6:c.102-16_102-15insGTT
  variant of: http://identifiers.org/hgnc/15923
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
population: European (Non-Finnish)
population: East Asian
population: Latino
population: Other
population: South Asian
population: African
population: European (Finnish)
reference allele: A
site quality: VQSLOD
site quality: BaseQRankSum
site quality: MQRankSum
site quality: QD
site quality: InbreedingCoeff
site quality: DP
site quality: ClippingRankSum
site quality: MQ
site quality: FS
site quality: ReadPosRankSum

http://identifiers.org/exac.variant/20-34320072-A-AC
type: Variant
location: Region
  begin: Position
    type: ExactPosition
    position: 34320072
    reference: chr 20
  end: Position
    type: ExactPosition
    position: 34320073
    reference: chr 20
allele count: 6
allele frequency: 4.987697014032054e-5
allele num: 120296
alternate allele: AC
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000481037
  gene symbol: RBM39
  hgvsc: ENST00000481037.1:n.317-16dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000389459
  ensembl transcript: ENST00000425184
  gene symbol: RBM39
  hgvsc: ENST00000425184.1:c.*52-16dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: true
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000253363
  ensembl transcript: ENST00000253363
  gene symbol: RBM39
  hgvsc: ENST00000253363.6:c.102-16dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395563
  ensembl transcript: ENST00000455343
  gene symbol: RBM39
  hgvsc: ENST00000455343.1:c.*52-16dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000407466
  ensembl transcript: ENST00000433027
  gene symbol: RBM39
  hgvsc: ENST00000433027.1:c.*109-16dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000461283
  gene symbol: RBM39
  hgvsc: ENST00000461283.1:n.71-16dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000385977
  ensembl transcript: ENST00000403542
  gene symbol: RBM39
  hgvsc: ENST00000403542.2:c.*52-16dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000363150
  ensembl transcript: ENST00000374038
  gene symbol: RBM39
  hgvsc: ENST00000374038.3:c.102-16dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000394602
  ensembl transcript: ENST00000444878
  gene symbol: RBM39
  hgvsc: ENST00000444878.1:c.*52-16dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000463004
  gene symbol: RBM39
  hgvsc: ENST00000463004.1:n.2217-16dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000390303
  ensembl transcript: ENST00000449489
  gene symbol: RBM39
  hgvsc: ENST00000449489.1:c.*107-16dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000395124
  ensembl transcript: ENST00000429968
  gene symbol: RBM39
  hgvsc: ENST00000429968.1:c.*30-16dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000393493
  ensembl transcript: ENST00000434927
  gene symbol: RBM39
  hgvsc: ENST00000434927.1:c.102-16dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000405916
  ensembl transcript: ENST00000426951
  gene symbol: RBM39
  hgvsc: ENST00000426951.1:c.65-16dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000384541
  ensembl transcript: ENST00000407261
  gene symbol: RBM39
  hgvsc: ENST00000407261.4:c.-370-16dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: non_coding_transcript_exon_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000492779
  gene symbol: RBM39
  hgvsc: ENST00000492779.1:n.656dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000397917
  ensembl transcript: ENST00000412738
  gene symbol: RBM39
  hgvsc: ENST00000412738.1:c.*124-16dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: non_coding_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl transcript: ENST00000487604
  gene symbol: RBM39
  hgvsc: ENST00000487604.1:n.295-16dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000406900
  ensembl transcript: ENST00000416108
  gene symbol: RBM39
  hgvsc: ENST00000416108.1:c.*52-16dupG
  variant of: http://identifiers.org/hgnc/15923
annotation: Annotation
  canonical: false
  consequence: NMD_transcript_variant
  consequence: intron_variant
  ensembl gene: ENSG00000131051
  ensembl protein: ENSP00000344581
  ensembl transcript: ENST00000338163
  gene symbol: RBM39
  hgvsc: ENST00000338163.6:c.102-16dupG
  variant of: http://identifiers.org/hgnc/15923
canonical: false
consequence: non coding transcript exon
filter: VQSRTrancheINDEL99.50to99.90
genotype depth: GenotypeDepth
genotype quality: GenotypeQuality
num of homozygotes: 0
reference allele: A

GenotypeDepth
all individuals: 15106
bin: 2.75e1
variant carriers: 2

GenotypeDepth
all individuals: 407
bin: 7.25e1
variant carriers: 2

GenotypeDepth
all individuals: 1233
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 293
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1521
bin: 1.25e1
variant carriers: 1

GenotypeDepth
all individuals: 637
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 12347
bin: 3.25e1
variant carriers: 2

GenotypeDepth
all individuals: 5150
bin: 4.25e1
variant carriers: 5

GenotypeDepth
all individuals: 450
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 8053
bin: 3.75e1
variant carriers: 6

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

GenotypeDepth
all individuals: 209
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 212
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 309
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1650
bin: 5.25e1
variant carriers: 5

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

GenotypeQuality
all individuals: 14238
bin: 9.75e1
variant carriers: 38

GenotypeQuality
all individuals: 2149
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18894
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 190
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 449
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 4226
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 132
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 620
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 790
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 799
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3231
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6498
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3128
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4835
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 235
bin: 4.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 3
allele frequency: 2.596952908587258e-4
allele num: 11552
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 34
allele frequency: 5.119865076496807e-4
allele num: 66408
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10322
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 3.76e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.7e-3

FS
type: SiteQuality
SIO_000300: 8.169999999999999e-1

DP
type: SiteQuality
SIO_000300: 2.173132e6

BaseQRankSum
type: SiteQuality
SIO_000300: -2.478e0

MQRankSum
type: SiteQuality
SIO_000300: -1.0e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.22e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -5.2e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.388e1

GenotypeDepth
all individuals: 11989
bin: 3.25e1
variant carriers: 49

GenotypeDepth
all individuals: 210
bin: 8.75e1
variant carriers: 2

GenotypeDepth
all individuals: 298
bin: 8.25e1
variant carriers: 9

GenotypeDepth
all individuals: 7161
bin: 2.25e1
variant carriers: 16

GenotypeDepth
all individuals: 1907
bin: 1.25e1
variant carriers: 3

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

GenotypeDepth
all individuals: 2553
bin: 1.75e1
variant carriers: 7

GenotypeDepth
all individuals: 5124
bin: 4.25e1
variant carriers: 29

GenotypeDepth
all individuals: 292
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 453
bin: 6.75e1
variant carriers: 11

GenotypeDepth
all individuals: 1322
bin: 9.75e1
variant carriers: 43

GenotypeDepth
all individuals: 206
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 969
bin: 5.75e1
variant carriers: 17

GenotypeDepth
all individuals: 308
bin: 7.75e1
variant carriers: 2

GenotypeDepth
all individuals: 409
bin: 7.25e1
variant carriers: 7

GenotypeDepth
all individuals: 636
bin: 6.25e1
variant carriers: 14

GenotypeDepth
all individuals: 3011
bin: 4.75e1
variant carriers: 49

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

GenotypeQuality
all individuals: 512
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2137
bin: 8.75e1
variant carriers: 1

GenotypeQuality
all individuals: 17108
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 515
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4182
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3063
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 1.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1140
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6281
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 604
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 981
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1177
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14372
bin: 9.75e1
variant carriers: 353

GenotypeQuality
all individuals: 3213
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 238
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4780
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 10
allele frequency: 1.506614035616356e-4
allele num: 66374
num of homozygotes: 0

Other
type: Population
allele count: 1
allele frequency: 1.103752759381898e-3
allele num: 906
num of homozygotes: 0

African
type: Population
allele count: 342
allele frequency: 3.315238464521132e-2
allele num: 10316
num of homozygotes: 8

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

Latino
type: Population
allele count: 11
allele frequency: 9.532062391681109e-4
allele num: 11540
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16382
num of homozygotes: 0

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.82e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.32e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.94e-1

QD
type: SiteQuality
SIO_000300: 1.337e1

VQSLOD
type: SiteQuality
SIO_000300: 6.26e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.1e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.749e0

DP
type: SiteQuality
SIO_000300: 2.154603e6

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5105
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 961
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 7135
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4886
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12525
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2111
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 446
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2979
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1310
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 624
bin: 6.25e1
variant carriers: 1

GenotypeQuality
all individuals: 400
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1071
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1991
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1105
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 920
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3219
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1538
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 776
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14115
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2993
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4714
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5891
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13850
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2139
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4161
bin: 8.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16358
num of homozygotes: 0

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

African
type: Population
allele count: 2
allele frequency: 1.940617116242965e-4
allele num: 10306
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: 66254
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11534
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8598
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.118932e6

VQSLOD
type: SiteQuality
SIO_000300: 1.62e0

FS
type: SiteQuality
SIO_000300: 3.113e0

ClippingRankSum
type: SiteQuality
SIO_000300: 6.01e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.7e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.89e-1

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

MQ
type: SiteQuality
SIO_000300: 5.943e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.567e0

QD
type: SiteQuality
SIO_000300: 1.329e1

GenotypeDepth
all individuals: 2976
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 446
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 355
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5104
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2112
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 961
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 7310
bin: 2.25e1
variant carriers: 1

GenotypeDepth
all individuals: 5045
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1633
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 623
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1310
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 12307
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 785
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2136
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1685
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 66
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1101
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 11
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1141
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 370
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2967
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 43
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2072
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3220
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1717
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14115
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 4157
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 13518
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4716
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5868
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 983
bin: 5.25e1
variant carriers: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.113216774666829e-5
allele num: 16358
num of homozygotes: 0

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8596
num of homozygotes: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10302
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66262
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 8.74e0

VQSLOD
type: SiteQuality
SIO_000300: -3.4e-2

MQRankSum
type: SiteQuality
SIO_000300: 3.9e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.95e-1

DP
type: SiteQuality
SIO_000300: 2.115408e6

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.533e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.5e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.22e-1

GenotypeDepth
all individuals: 9669
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 446
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5050
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2970
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 622
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 961
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2094
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10865
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 293
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1633
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10268
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 156
bin: 1.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 10063
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 665
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14109
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1034
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4134
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1462
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 812
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2319
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1769
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2647
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 2128
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2932
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5480
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3222
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2985
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4654
bin: 7.75e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16258
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.511990081345066e-5
allele num: 66138
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10286
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -1.164e0

VQSLOD
type: SiteQuality
SIO_000300: 9.6e-2

MQ
type: SiteQuality
SIO_000300: 6.0e1

ClippingRankSum
type: SiteQuality
SIO_000300: 4.23e-1

DP
type: SiteQuality
SIO_000300: 2.096567e6

BaseQRankSum
type: SiteQuality
SIO_000300: -1.27e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.3e-3

FS
type: SiteQuality
SIO_000300: 0.0e0

QD
type: SiteQuality
SIO_000300: 1.334e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.18e-1

GenotypeDepth
all individuals: 10089
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2112
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 10819
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 433
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 7834
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 21
bin: 2.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5098
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9929
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1633
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5002
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 446
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 622
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 308
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 207
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 406
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 213
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2919
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 723
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2959
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1780
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 805
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 144
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2309
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2127
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 3007
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4678
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4149
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1025
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3221
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5438
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 14112
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1459
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9747
bin: 6.25e1
variant carriers: 0

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10290
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66172
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.133464180569185e-5
allele num: 16304
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8570
num of homozygotes: 0

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.5e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -3.11e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.42e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 6.4e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.536e-1

FS
type: SiteQuality
SIO_000300: 4.437e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.500000000000001e-2

DP
type: SiteQuality
SIO_000300: 2.094509e6

QD
type: SiteQuality
SIO_000300: 7.42e0

GenotypeDepth
all individuals: 4414
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2697
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5974
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 110
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 232
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 273
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23276
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17123
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1435
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 429
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1063
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 975
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1667
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 138
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1210
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9478
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 12
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 45
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2715
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29686
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8389
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 39
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3911
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 67
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 101
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3080
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 5.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.49902563333833e-5
allele num: 66710
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10358
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16498
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 5.73e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 3.41e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.39e-1

DP
type: SiteQuality
SIO_000300: 2.098972e6

MQRankSum
type: SiteQuality
SIO_000300: 7.79e-1

FS
type: SiteQuality
SIO_000300: 2.889e0

QD
type: SiteQuality
SIO_000300: 1.643e1

VQSLOD
type: SiteQuality
SIO_000300: 1.46e0

MQ
type: SiteQuality
SIO_000300: 6.045e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.34e-1

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5970
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4490
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 88
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1059
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 2698
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 976
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23368
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17202
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1436
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9498
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 21
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 52
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3076
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3877
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 28
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 47
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30065
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2691
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1200
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8373
bin: 9.75e1
variant carriers: 1

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

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

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

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: 66728
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: 1
allele frequency: 6.05766900896535e-5
allele num: 16508
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.57e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.985e1

MQRankSum
type: SiteQuality
SIO_000300: 2.02e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.45e0

QD
type: SiteQuality
SIO_000300: 1.961e1

VQSLOD
type: SiteQuality
SIO_000300: -1.905e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.8e-3

DP
type: SiteQuality
SIO_000300: 2.100809e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 5.09e-1

GenotypeDepth
all individuals: 27
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2710
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23369
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5972
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17221
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 574
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1436
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4495
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 976
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1057
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 43
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 20
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8372
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 30109
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 33
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3066
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1201
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9502
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3871
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2686
bin: 8.25e1
variant carriers: 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

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498756032493031e-5
allele num: 66722
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.101206e6

MQRankSum
type: SiteQuality
SIO_000300: -1.38e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.3e-1

QD
type: SiteQuality
SIO_000300: 1.067e1

VQSLOD
type: SiteQuality
SIO_000300: -7.689e-1

FS
type: SiteQuality
SIO_000300: 1.0576e1

MQ
type: SiteQuality
SIO_000300: 5.987e1

ClippingRankSum
type: SiteQuality
SIO_000300: -2.241e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.502e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000393493
ensembl transcript: ENST00000434927
gene symbol: RBM39
hgvsc: ENST00000434927.1:c.296+20A>G
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1056
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2706
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 976
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5980
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1437
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17253
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23410
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4511
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30266
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8373
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9500
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 18
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2684
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

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

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

Other
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 908
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: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

FS
type: SiteQuality
SIO_000300: 1.104e0

QD
type: SiteQuality
SIO_000300: 1.356e1

MQ
type: SiteQuality
SIO_000300: 5.984e1

MQRankSum
type: SiteQuality
SIO_000300: -1.964e0

VQSLOD
type: SiteQuality
SIO_000300: -7.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.49e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.32e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 3.87e0

DP
type: SiteQuality
SIO_000300: 2.102503e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000436747
ensembl transcript: ENST00000528062
gene symbol: RBM39
hgvsc: ENST00000528062.3:c.296+18T>C
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4511
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5978
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2707
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 20
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17254
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1437
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23416
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 18
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 975
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1055
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 742
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 2684
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3871
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8372
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 30281
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3073
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9503
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 1.09e0

MQRankSum
type: SiteQuality
SIO_000300: 4.73e-1

QD
type: SiteQuality
SIO_000300: 1.274e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.25e0

BaseQRankSum
type: SiteQuality
SIO_000300: -5.272e0

DP
type: SiteQuality
SIO_000300: 2.102494e6

MQ
type: SiteQuality
SIO_000300: 5.981e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.21e-1

FS
type: SiteQuality
SIO_000300: 1.004e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000463004
gene symbol: RBM39
hgvsc: ENST00000463004.1:n.2411+17A>T
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4511
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23416
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17255
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 975
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1054
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5976
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 743
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1438
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2709
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9504
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 17
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2685
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30278
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3072
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1666
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 5
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8372
bin: 9.75e1
variant carriers: 3

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 3
allele frequency: 1.817080557238038e-4
allele num: 16510
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.6e0

ClippingRankSum
type: SiteQuality
SIO_000300: -3.58e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.01e-1

MQ
type: SiteQuality
SIO_000300: 5.946e1

VQSLOD
type: SiteQuality
SIO_000300: 2.9e0

FS
type: SiteQuality
SIO_000300: 0.0e0

MQRankSum
type: SiteQuality
SIO_000300: 5.11e-1

QD
type: SiteQuality
SIO_000300: 1.202e1

DP
type: SiteQuality
SIO_000300: 2.102398e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000436747
ensembl transcript: ENST00000528062
gene symbol: RBM39
hgvsc: ENST00000528062.3:c.296+11delA
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 975
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5978
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1437
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23431
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17255
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4514
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2707
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 14
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 12
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1053
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 15
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9504
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3068
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3870
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30302
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8368
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 5
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2685
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
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: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10380
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 6.13e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -2.071e0

DP
type: SiteQuality
SIO_000300: 2.102471e6

MQRankSum
type: SiteQuality
SIO_000300: 9.62e-1

QD
type: SiteQuality
SIO_000300: 1.552e1

MQ
type: SiteQuality
SIO_000300: 5.983e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.82e-1

FS
type: SiteQuality
SIO_000300: 2.788e0

ClippingRankSum
type: SiteQuality
SIO_000300: -5.4e-1

Annotation
canonical: false
consequence: stop_lost
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000405916
ensembl transcript: ENST00000426951
gene symbol: RBM39
hgvsc: ENST00000426951.1:c.259A>G
hgvsp: ENSP00000405916.1:p.Ter87TrpextTer10
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000393493
ensembl transcript: ENST00000434927
gene symbol: RBM39
hgvsc: ENST00000434927.1:c.296A>G
hgvsp: ENSP00000393493.1:p.Tyr99Cys
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: missense_variant
consequence: splice_region_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000344581
ensembl transcript: ENST00000338163
gene symbol: RBM39
hgvsc: ENST00000338163.6:c.296A>G
hgvsp: ENSP00000344581.6:p.Tyr99Cys
variant of: http://identifiers.org/hgnc/15923

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

GenotypeDepth
all individuals: 4514
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1437
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 7.5e0
variant carriers: 0

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

GenotypeDepth
all individuals: 17261
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 23440
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1051
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5977
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 975
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2706
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 11
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30323
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2685
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8367
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3867
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3068
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9510
bin: 6.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

African
type: Population
allele count: 1
allele frequency: 9.624639076034648e-5
allele num: 10390
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.949e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.79e0

MQRankSum
type: SiteQuality
SIO_000300: -3.18e-1

VQSLOD
type: SiteQuality
SIO_000300: -4.214e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.24e-1

QD
type: SiteQuality
SIO_000300: 1.4e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.768e0

DP
type: SiteQuality
SIO_000300: 2.102326e6

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000477334
gene symbol: RBM39
hgvsc: ENST00000477334.1:n.365C>G
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 4513
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1050
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 17261
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2706
bin: 4.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5977
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 23444
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 975
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1437
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3867
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2685
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9511
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3068
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30324
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8367
bin: 9.75e1
variant carriers: 1

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10390
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: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
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

MQRankSum
type: SiteQuality
SIO_000300: 7.39e-1

DP
type: SiteQuality
SIO_000300: 2.1023e6

MQ
type: SiteQuality
SIO_000300: 5.946e1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.198e0

QD
type: SiteQuality
SIO_000300: 1.145e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.45e-1

VQSLOD
type: SiteQuality
SIO_000300: 9.02e-1

FS
type: SiteQuality
SIO_000300: 1.625e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.76e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 0.0e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000463004
gene symbol: RBM39
hgvsc: ENST00000463004.1:n.2395C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000481037
gene symbol: RBM39
hgvsc: ENST00000481037.1:n.495C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000385977
ensembl transcript: ENST00000403542
gene symbol: RBM39
hgvsc: ENST00000403542.2:c.*230C>T
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 17262
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1437
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23446
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5978
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4521
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 975
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1049
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2706
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8366
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9510
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2685
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30336
bin: 6.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3867
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3069
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

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

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
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: 16510
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -9.13e-1

DP
type: SiteQuality
SIO_000300: 2.102431e6

ClippingRankSum
type: SiteQuality
SIO_000300: -9.94e-1

QD
type: SiteQuality
SIO_000300: 1.343e1

MQ
type: SiteQuality
SIO_000300: 5.957e1

FS
type: SiteQuality
SIO_000300: 4.241e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 3.76e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.39e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000384541
ensembl transcript: ENST00000407261
gene symbol: RBM39
hgvsc: ENST00000407261.4:c.-199T>C
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000395563
ensembl transcript: ENST00000455343
gene symbol: RBM39
hgvsc: ENST00000455343.1:c.*223T>C
variant of: http://identifiers.org/hgnc/15923

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

GenotypeDepth
all individuals: 17263
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 975
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2707
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23447
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5978
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4521
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1048
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1437
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30337
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3069
bin: 7.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9513
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2686
bin: 8.25e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8365
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3867
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10406
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: 16510
num of homozygotes: 0

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

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

FS
type: SiteQuality
SIO_000300: 5.22e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 4.54e0

VQSLOD
type: SiteQuality
SIO_000300: 9.340000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.102311e6

MQ
type: SiteQuality
SIO_000300: 5.974e1

ClippingRankSum
type: SiteQuality
SIO_000300: 2.08e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.09e-1

QD
type: SiteQuality
SIO_000300: 1.269e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000461283
gene symbol: RBM39
hgvsc: ENST00000461283.1:n.234C>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000406900
ensembl transcript: ENST00000416108
gene symbol: RBM39
hgvsc: ENST00000416108.1:c.*215C>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000481037
gene symbol: RBM39
hgvsc: ENST00000481037.1:n.480C>A
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 1437
bin: 4.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 17263
bin: 3.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 976
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2706
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4520
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5979
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23448
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1047
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9513
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30336
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 8364
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2686
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3069
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3867
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

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

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

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

DP
type: SiteQuality
SIO_000300: 2.102204e6

MQ
type: SiteQuality
SIO_000300: 5.953e1

ClippingRankSum
type: SiteQuality
SIO_000300: 7.48e-1

QD
type: SiteQuality
SIO_000300: 1.122e1

VQSLOD
type: SiteQuality
SIO_000300: -1.015e0

MQRankSum
type: SiteQuality
SIO_000300: -7.98e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.12e0

BaseQRankSum
type: SiteQuality
SIO_000300: 8.91e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000406900
ensembl transcript: ENST00000416108
gene symbol: RBM39
hgvsc: ENST00000416108.1:c.*213A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000461283
gene symbol: RBM39
hgvsc: ENST00000461283.1:n.232A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000481037
gene symbol: RBM39
hgvsc: ENST00000481037.1:n.478A>G
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 4520
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1437
bin: 4.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 976
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5980
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23448
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2706
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17263
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1046
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30337
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3868
bin: 7.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 8363
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3069
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2686
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9513
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 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: 66740
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.612e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: -4.29e-1

DP
type: SiteQuality
SIO_000300: 2.102092e6

FS
type: SiteQuality
SIO_000300: 3.902e0

VQSLOD
type: SiteQuality
SIO_000300: 3.69e-1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.12e0

MQRankSum
type: SiteQuality
SIO_000300: 6.31e-1

MQ
type: SiteQuality
SIO_000300: 5.963e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.04e0

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000397917
ensembl transcript: ENST00000412738
gene symbol: RBM39
hgvsc: ENST00000412738.1:c.*284G>C
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000389459
ensembl transcript: ENST00000425184
gene symbol: RBM39
hgvsc: ENST00000425184.1:c.*212G>C
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 4520
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1438
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1045
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 976
bin: 5.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 23448
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17263
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2706
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5980
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 8363
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3069
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9513
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30338
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.25e1
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: 0
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 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: 66740
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.522e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

DP
type: SiteQuality
SIO_000300: 2.101987e6

ClippingRankSum
type: SiteQuality
SIO_000300: -4.99e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.21e-1

FS
type: SiteQuality
SIO_000300: 4.475e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.984e0

MQRankSum
type: SiteQuality
SIO_000300: -5.52e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 7.44e-1

MQ
type: SiteQuality
SIO_000300: 5.989e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000442447
gene symbol: RBM39
hgvsc: ENST00000442447.1:n.571G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000463004
gene symbol: RBM39
hgvsc: ENST00000463004.1:n.2363G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000394602
ensembl transcript: ENST00000444878
gene symbol: RBM39
hgvsc: ENST00000444878.1:c.*198G>A
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5980
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17263
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1044
bin: 9.75e1
variant carriers: 2

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

GenotypeDepth
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 9.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 4519
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1438
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 975
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23450
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2705
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2686
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3868
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8362
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 30336
bin: 6.25e1
variant carriers: 0

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

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

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

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

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

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

GenotypeQuality
all individuals: 3070
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498351813005694e-5
allele num: 66740
num of homozygotes: 0

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -4.01e-1

QD
type: SiteQuality
SIO_000300: 1.296e1

MQRankSum
type: SiteQuality
SIO_000300: -4.84e-1

MQ
type: SiteQuality
SIO_000300: 5.987e1

FS
type: SiteQuality
SIO_000300: 1.118e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.69e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.68e0

DP
type: SiteQuality
SIO_000300: 2.102099e6

VQSLOD
type: SiteQuality
SIO_000300: 7.61e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000463004
gene symbol: RBM39
hgvsc: ENST00000463004.1:n.2362C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000385977
ensembl transcript: ENST00000403542
gene symbol: RBM39
hgvsc: ENST00000403542.2:c.*197C>T
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 17262
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1439
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 563
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 742
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2706
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5979
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 975
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 23450
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4519
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 271
bin: 8.25e1
variant carriers: 1

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

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1043
bin: 9.75e1
variant carriers: 5

GenotypeDepth
all individuals: 179
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3070
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8361
bin: 9.75e1
variant carriers: 6

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 30337
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3866
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 5
allele frequency: 7.491759065028469e-5
allele num: 66740
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Finnish)
type: Population
allele count: 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: 908
num of homozygotes: 0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.07e0

QD
type: SiteQuality
SIO_000300: 1.365e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.249e0

VQSLOD
type: SiteQuality
SIO_000300: 6.54e-1

FS
type: SiteQuality
SIO_000300: 5.33e-1

MQ
type: SiteQuality
SIO_000300: 5.978e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.75e0

DP
type: SiteQuality
SIO_000300: 2.102109e6

MQRankSum
type: SiteQuality
SIO_000300: 3.64e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000463004
gene symbol: RBM39
hgvsc: ENST00000463004.1:n.2358G>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000442447
gene symbol: RBM39
hgvsc: ENST00000442447.1:n.566G>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000395563
ensembl transcript: ENST00000455343
gene symbol: RBM39
hgvsc: ENST00000455343.1:c.*193G>T
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 975
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5979
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 428
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2706
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17265
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4520
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23452
bin: 2.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1438
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1038
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 179
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30339
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9514
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3866
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8356
bin: 9.75e1
variant carriers: 2

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 0
allele frequency: 0.0e0
allele num: 908
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
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: 2
allele frequency: 2.31107002542177e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 5.988e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: -7.06e0

MQRankSum
type: SiteQuality
SIO_000300: 9.0e-2

DP
type: SiteQuality
SIO_000300: 2.101425e6

QD
type: SiteQuality
SIO_000300: 1.189e1

VQSLOD
type: SiteQuality
SIO_000300: 5.49e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.13e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000406900
ensembl transcript: ENST00000416108
gene symbol: RBM39
hgvsc: ENST00000416108.1:c.*191C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000394602
ensembl transcript: ENST00000444878
gene symbol: RBM39
hgvsc: ENST00000444878.1:c.*191C>T
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 1438
bin: 4.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 975
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 427
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 565
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1036
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17266
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2706
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4520
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 270
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5979
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23453
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8354
bin: 9.75e1
variant carriers: 2

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 9514
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3866
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3072
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2687
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30339
bin: 6.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

MQ
type: SiteQuality
SIO_000300: 5.836e1

MQRankSum
type: SiteQuality
SIO_000300: 9.49e-1

QD
type: SiteQuality
SIO_000300: 1.317e1

FS
type: SiteQuality
SIO_000300: 1.739e0

ClippingRankSum
type: SiteQuality
SIO_000300: -8.67e-1

DP
type: SiteQuality
SIO_000300: 2.101145e6

VQSLOD
type: SiteQuality
SIO_000300: -1.55e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.45e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.86e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000389459
ensembl transcript: ENST00000425184
gene symbol: RBM39
hgvsc: ENST00000425184.1:c.*189G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: missense_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000344581
ensembl transcript: ENST00000338163
gene symbol: RBM39
hgvsc: ENST00000338163.6:c.239G>A
hgvsp: ENSP00000344581.6:p.Arg80Gln
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 23455
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2705
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17265
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5979
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1035
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 232
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4521
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1439
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 975
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 565
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 30342
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2687
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3865
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9514
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8353
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.4983967155144e-5
allele num: 66738
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 1.02e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.31e-1

MQRankSum
type: SiteQuality
SIO_000300: 9.5e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

FS
type: SiteQuality
SIO_000300: 3.673e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.06e0

QD
type: SiteQuality
SIO_000300: 1.154e1

DP
type: SiteQuality
SIO_000300: 2.10084e6

MQ
type: SiteQuality
SIO_000300: 5.978e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000477334
gene symbol: RBM39
hgvsc: ENST00000477334.1:n.306G>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000463004
gene symbol: RBM39
hgvsc: ENST00000463004.1:n.2349G>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000385977
ensembl transcript: ENST00000403542
gene symbol: RBM39
hgvsc: ENST00000403542.2:c.*184G>T
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 17266
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1437
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1034
bin: 9.75e1
variant carriers: 11

GenotypeDepth
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5979
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 232
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4519
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23456
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2705
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 975
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 427
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8352
bin: 9.75e1
variant carriers: 11

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 30342
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9515
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2687
bin: 8.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3072
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3864
bin: 7.75e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 7
allele frequency: 1.048846269103986e-4
allele num: 66740
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: 4
allele frequency: 3.454828122300915e-4
allele num: 11578
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -5.574e0

DP
type: SiteQuality
SIO_000300: 2.10157e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

MQRankSum
type: SiteQuality
SIO_000300: 3.96e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

MQ
type: SiteQuality
SIO_000300: 5.97e1

ClippingRankSum
type: SiteQuality
SIO_000300: -3.4e-2

QD
type: SiteQuality
SIO_000300: 1.251e1

VQSLOD
type: SiteQuality
SIO_000300: 4.59e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.48e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000492779
gene symbol: RBM39
hgvsc: ENST00000492779.1:n.794G>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000390303
ensembl transcript: ENST00000449489
gene symbol: RBM39
hgvsc: ENST00000449489.1:c.*229G>T
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 1023
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 232
bin: 8.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1437
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 23462
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17267
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 975
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2706
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4521
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5982
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3072
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2687
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8342
bin: 9.75e1
variant carriers: 1

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

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

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9521
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3863
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30349
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66740
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 4.658e0

MQRankSum
type: SiteQuality
SIO_000300: 1.19e0

VQSLOD
type: SiteQuality
SIO_000300: -1.953e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.5e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -1.398e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.383e0

DP
type: SiteQuality
SIO_000300: 2.09968e6

MQ
type: SiteQuality
SIO_000300: 5.835e1

QD
type: SiteQuality
SIO_000300: 1.42e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000385977
ensembl transcript: ENST00000403542
gene symbol: RBM39
hgvsc: ENST00000403542.2:c.*168G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000477334
gene symbol: RBM39
hgvsc: ENST00000477334.1:n.290G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000463004
gene symbol: RBM39
hgvsc: ENST00000463004.1:n.2333G>A
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17267
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1437
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4520
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23463
bin: 2.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 232
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 975
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5981
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1022
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2707
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3863
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2687
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30345
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8341
bin: 9.75e1
variant carriers: 3

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9521
bin: 6.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 3
allele frequency: 4.495190146543199e-5
allele num: 66738
num of homozygotes: 0

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: 7.75e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.08e0

MQ
type: SiteQuality
SIO_000300: 5.984e1

DP
type: SiteQuality
SIO_000300: 2.099928e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 4.16e-1

FS
type: SiteQuality
SIO_000300: 5.18e-1

QD
type: SiteQuality
SIO_000300: 1.384e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.27e0

ClippingRankSum
type: SiteQuality
SIO_000300: 7.8e-2

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000492779
gene symbol: RBM39
hgvsc: ENST00000492779.1:n.785A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000390303
ensembl transcript: ENST00000449489
gene symbol: RBM39
hgvsc: ENST00000449489.1:c.*220A>G
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 5981
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 977
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1437
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4521
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 233
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 739
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1019
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17268
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23463
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 575
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2707
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3072
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2686
bin: 8.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8337
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3865
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30349
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9521
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66738
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.099295e6

QD
type: SiteQuality
SIO_000300: 1.458e1

FS
type: SiteQuality
SIO_000300: 9.811e0

MQRankSum
type: SiteQuality
SIO_000300: -6.01e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.34e0

MQ
type: SiteQuality
SIO_000300: 5.991e1

BaseQRankSum
type: SiteQuality
SIO_000300: 8.08e0

VQSLOD
type: SiteQuality
SIO_000300: -5.812e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -6.98e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000395563
ensembl transcript: ENST00000455343
gene symbol: RBM39
hgvsc: ENST00000455343.1:c.*156G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000390303
ensembl transcript: ENST00000449489
gene symbol: RBM39
hgvsc: ENST00000449489.1:c.*211G>A
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 233
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 5979
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4527
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23466
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 425
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1024
bin: 9.75e1
variant carriers: 8

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

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

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

GenotypeDepth
all individuals: 2703
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 573
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 565
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 975
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17262
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1436
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2683
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9514
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3863
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8337
bin: 9.75e1
variant carriers: 9

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30348
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

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

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11578
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: 5
allele frequency: 7.49265719594797e-5
allele num: 66732
num of homozygotes: 0

South Asian
type: Population
allele count: 4
allele frequency: 2.422774076317383e-4
allele num: 16510
num of homozygotes: 0

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.84e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.99e0

DP
type: SiteQuality
SIO_000300: 2.099727e6

MQRankSum
type: SiteQuality
SIO_000300: 2.82e-1

QD
type: SiteQuality
SIO_000300: 1.372e1

FS
type: SiteQuality
SIO_000300: 1.751e0

MQ
type: SiteQuality
SIO_000300: 5.965e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -7.0e-4

VQSLOD
type: SiteQuality
SIO_000300: 2.3e0

ClippingRankSum
type: SiteQuality
SIO_000300: -7.53e-1

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000384541
ensembl transcript: ENST00000407261
gene symbol: RBM39
hgvsc: ENST00000407261.4:c.-281A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000461283
gene symbol: RBM39
hgvsc: ENST00000461283.1:n.160A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000463004
gene symbol: RBM39
hgvsc: ENST00000463004.1:n.2306A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000390303
ensembl transcript: ENST00000449489
gene symbol: RBM39
hgvsc: ENST00000449489.1:c.*196A>G
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 5979
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 574
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 738
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1015
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4533
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17261
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2704
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1434
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23475
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 343
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 973
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30362
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3863
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9511
bin: 6.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8325
bin: 9.75e1
variant carriers: 1

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

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66736
num of homozygotes: 0

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

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

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

ClippingRankSum
type: SiteQuality
SIO_000300: 1.28e-1

VQSLOD
type: SiteQuality
SIO_000300: 6.37e-1

MQ
type: SiteQuality
SIO_000300: 5.985e1

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

QD
type: SiteQuality
SIO_000300: 1.481e1

BaseQRankSum
type: SiteQuality
SIO_000300: 6.4e0

FS
type: SiteQuality
SIO_000300: 1.996e0

DP
type: SiteQuality
SIO_000300: 2.098293e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.62e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000481037
gene symbol: RBM39
hgvsc: ENST00000481037.1:n.399_400delGA
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000463004
gene symbol: RBM39
hgvsc: ENST00000463004.1:n.2299_2300delGA
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000406900
ensembl transcript: ENST00000416108
gene symbol: RBM39
hgvsc: ENST00000416108.1:c.*134_*135delGA
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 5_prime_UTR_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000384541
ensembl transcript: ENST00000407261
gene symbol: RBM39
hgvsc: ENST00000407261.4:c.-288_-287delGA
variant of: http://identifiers.org/hgnc/15923

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

GenotypeDepth
all individuals: 427
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 738
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17263
bin: 3.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 973
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23475
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4535
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1014
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5977
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1434
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 573
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2705
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8324
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 3
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3862
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2686
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9509
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30367
bin: 6.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10404
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: 1
allele frequency: 1.498441620714457e-5
allele num: 66736
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

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

VQSLOD
type: SiteQuality
SIO_000300: -1.278e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 2.15e0

FS
type: SiteQuality
SIO_000300: 6.245e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

QD
type: SiteQuality
SIO_000300: 3.55e0

DP
type: SiteQuality
SIO_000300: 2.098288e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -6.0e-3

MQ
type: SiteQuality
SIO_000300: 5.982e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000463004
gene symbol: RBM39
hgvsc: ENST00000463004.1:n.2296A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000394602
ensembl transcript: ENST00000444878
gene symbol: RBM39
hgvsc: ENST00000444878.1:c.*131A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000477334
gene symbol: RBM39
hgvsc: ENST00000477334.1:n.253A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000442447
gene symbol: RBM39
hgvsc: ENST00000442447.1:n.504A>G
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 4536
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5977
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 972
bin: 5.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 2704
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 573
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23475
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1435
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 738
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17264
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 427
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1013
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 9511
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3076
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2686
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30372
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8323
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 7.75e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66734
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
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

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

FS
type: SiteQuality
SIO_000300: 6.285e0

BaseQRankSum
type: SiteQuality
SIO_000300: 1.16e0

DP
type: SiteQuality
SIO_000300: 2.098052e6

QD
type: SiteQuality
SIO_000300: 1.511e1

VQSLOD
type: SiteQuality
SIO_000300: -2.063e0

MQRankSum
type: SiteQuality
SIO_000300: -1.902e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.43e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.321e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

MQ
type: SiteQuality
SIO_000300: 5.97e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000389459
ensembl transcript: ENST00000425184
gene symbol: RBM39
hgvsc: ENST00000425184.1:c.*114G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000492779
gene symbol: RBM39
hgvsc: ENST00000492779.1:n.734G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000395563
ensembl transcript: ENST00000455343
gene symbol: RBM39
hgvsc: ENST00000455343.1:c.*114G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000394602
ensembl transcript: ENST00000444878
gene symbol: RBM39
hgvsc: ENST00000444878.1:c.*114G>A
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 234
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 973
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23478
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5979
bin: 3.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 341
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4536
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1011
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 574
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 737
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17261
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2703
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1435
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8322
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 9511
bin: 6.75e1
variant carriers: 0

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

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

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

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

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

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

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2684
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66732
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: 11574
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

VQSLOD
type: SiteQuality
SIO_000300: 9.14e-1

MQ
type: SiteQuality
SIO_000300: 5.958e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.07e0

FS
type: SiteQuality
SIO_000300: 1.321e0

QD
type: SiteQuality
SIO_000300: 1.174e1

BaseQRankSum
type: SiteQuality
SIO_000300: 2.22e0

ClippingRankSum
type: SiteQuality
SIO_000300: 4.7e-1

DP
type: SiteQuality
SIO_000300: 2.097617e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 8.55e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000477334
gene symbol: RBM39
hgvsc: ENST00000477334.1:n.235C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000487604
gene symbol: RBM39
hgvsc: ENST00000487604.1:n.356C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000463004
gene symbol: RBM39
hgvsc: ENST00000463004.1:n.2278C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000389459
ensembl transcript: ENST00000425184
gene symbol: RBM39
hgvsc: ENST00000425184.1:c.*113C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000397917
ensembl transcript: ENST00000412738
gene symbol: RBM39
hgvsc: ENST00000412738.1:c.*185C>T
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 1435
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 23479
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5978
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 8.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 736
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4536
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1011
bin: 9.75e1
variant carriers: 1

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

GenotypeDepth
all individuals: 341
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2704
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 573
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17261
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30372
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2683
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8321
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9511
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 0
bin: 2.75e1
variant carriers: 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: 66728
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 1
allele frequency: 6.056935190793458e-5
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.097745e6

ClippingRankSum
type: SiteQuality
SIO_000300: 3.46e-1

FS
type: SiteQuality
SIO_000300: 4.67e-1

MQ
type: SiteQuality
SIO_000300: 5.931e1

MQRankSum
type: SiteQuality
SIO_000300: -2.304e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -8.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -1.517e0

VQSLOD
type: SiteQuality
SIO_000300: -2.421e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -8.9e-2

QD
type: SiteQuality
SIO_000300: 8.380000000000001e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000477334
gene symbol: RBM39
hgvsc: ENST00000477334.1:n.228_229insTACATACT
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000385977
ensembl transcript: ENST00000403542
gene symbol: RBM39
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000394602
ensembl transcript: ENST00000444878
gene symbol: RBM39
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000407466
ensembl transcript: ENST00000433027
gene symbol: RBM39
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 571
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4535
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 565
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeDepth
all individuals: 5979
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1435
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23480
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17262
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 425
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2704
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 269
bin: 8.25e1
variant carriers: 1

GenotypeDepth
all individuals: 735
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1009
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8321
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9512
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 30374
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 4
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3072
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3860
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2684
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 5
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498531439189594e-5
allele num: 66732
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.03e0

MQ
type: SiteQuality
SIO_000300: 3.818e1

FS
type: SiteQuality
SIO_000300: 6.1309e1

MQRankSum
type: SiteQuality
SIO_000300: -2.402e0

BaseQRankSum
type: SiteQuality
SIO_000300: -1.605e0

VQSLOD
type: SiteQuality
SIO_000300: -7.523e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.294e0

DP
type: SiteQuality
SIO_000300: 2.097416e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 1.55e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000477334
gene symbol: RBM39
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000397917
ensembl transcript: ENST00000412738
gene symbol: RBM39
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 17261
bin: 3.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 5979
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 571
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2704
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 736
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4536
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23482
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 973
bin: 5.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 1434
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 425
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 564
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 341
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1009
bin: 9.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8321
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 6
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30374
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9512
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2683
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3072
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3861
bin: 7.75e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498576352465158e-5
allele num: 66730
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

FS
type: SiteQuality
SIO_000300: 5.4314e1

MQ
type: SiteQuality
SIO_000300: 3.916e1

DP
type: SiteQuality
SIO_000300: 2.09735e6

ClippingRankSum
type: SiteQuality
SIO_000300: 1.41e0

VQSLOD
type: SiteQuality
SIO_000300: -7.098e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.56e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -3.0e-4

MQRankSum
type: SiteQuality
SIO_000300: -2.981e0

QD
type: SiteQuality
SIO_000300: 9.3e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.13e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000492779
gene symbol: RBM39
hgvsc: ENST00000492779.1:n.720C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: synonymous_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000354437
ensembl transcript: ENST00000361162
gene symbol: RBM39
hgvsc: ENST00000361162.6:c.150C>T
hgvsp: ENST00000361162.6:c.150C>T(p.%3D)
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000407466
ensembl transcript: ENST00000433027
gene symbol: RBM39
hgvsc: ENST00000433027.1:c.*157C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000461283
gene symbol: RBM39
hgvsc: ENST00000461283.1:n.119C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000477334
gene symbol: RBM39
hgvsc: ENST00000477334.1:n.222C>T
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 735
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2705
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4537
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 23482
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17260
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 571
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1435
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 972
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 425
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5979
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1010
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 2683
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9512
bin: 6.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8319
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3860
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3073
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30373
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498621268433042e-5
allele num: 66728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

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

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

QD
type: SiteQuality
SIO_000300: 1.012e1

MQ
type: SiteQuality
SIO_000300: 6.0e1

BaseQRankSum
type: SiteQuality
SIO_000300: -7.45e0

VQSLOD
type: SiteQuality
SIO_000300: 2.71e-1

MQRankSum
type: SiteQuality
SIO_000300: -9.3e-1

FS
type: SiteQuality
SIO_000300: 3.573e0

DP
type: SiteQuality
SIO_000300: 2.09736e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: -6.44e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.01e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000442447
gene symbol: RBM39
hgvsc: ENST00000442447.1:n.463G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000406900
ensembl transcript: ENST00000416108
gene symbol: RBM39
hgvsc: ENST00000416108.1:c.*90G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000397917
ensembl transcript: ENST00000412738
gene symbol: RBM39
hgvsc: ENST00000412738.1:c.*162G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000461283
gene symbol: RBM39
hgvsc: ENST00000461283.1:n.109G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000481037
gene symbol: RBM39
hgvsc: ENST00000481037.1:n.355G>A
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 23482
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1436
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4536
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2704
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 425
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 972
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 735
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1009
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17260
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 571
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5978
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9511
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8317
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7
bin: 2.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2683
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3860
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30373
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66728
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.155535012710885e-4
allele num: 8654
num of homozygotes: 0

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

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

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.25e0

VQSLOD
type: SiteQuality
SIO_000300: 5.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 1.5e-1

QD
type: SiteQuality
SIO_000300: 1.165e1

MQ
type: SiteQuality
SIO_000300: 5.978e1

FS
type: SiteQuality
SIO_000300: 1.108e0

ClippingRankSum
type: SiteQuality
SIO_000300: -9.66e-1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.73e0

DP
type: SiteQuality
SIO_000300: 2.097139e6

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000395563
ensembl transcript: ENST00000455343
gene symbol: RBM39
hgvsc: ENST00000455343.1:c.*85T>C
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000463004
gene symbol: RBM39
hgvsc: ENST00000463004.1:n.2250T>C
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000397917
ensembl transcript: ENST00000412738
gene symbol: RBM39
hgvsc: ENST00000412738.1:c.*157T>C
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000385977
ensembl transcript: ENST00000403542
gene symbol: RBM39
hgvsc: ENST00000403542.2:c.*85T>C
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 2704
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1007
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17259
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 4536
bin: 2.25e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 572
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1434
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 735
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23485
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 971
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5979
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 235
bin: 8.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 30374
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8315
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9510
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2683
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1664
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3071
bin: 7.25e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 2.997242536866083e-5
allele num: 66728
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 2.79e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

VQSLOD
type: SiteQuality
SIO_000300: 8.500000000000001e-2

ReadPosRankSum
type: SiteQuality
SIO_000300: -5.7e-1

QD
type: SiteQuality
SIO_000300: 1.094e1

FS
type: SiteQuality
SIO_000300: 1.706e0

ClippingRankSum
type: SiteQuality
SIO_000300: -2.74e-1

DP
type: SiteQuality
SIO_000300: 2.096953e6

MQ
type: SiteQuality
SIO_000300: 5.932e1

MQRankSum
type: SiteQuality
SIO_000300: -8.8e-1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000463004
gene symbol: RBM39
hgvsc: ENST00000463004.1:n.2243G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000492779
gene symbol: RBM39
hgvsc: ENST00000492779.1:n.698G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000481037
gene symbol: RBM39
hgvsc: ENST00000481037.1:n.343G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000487604
gene symbol: RBM39
hgvsc: ENST00000487604.1:n.321G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000406900
ensembl transcript: ENST00000416108
gene symbol: RBM39
hgvsc: ENST00000416108.1:c.*78G>A
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1433
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 973
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17258
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23484
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5981
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2702
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 9
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 571
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4533
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 735
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1005
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30374
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 10
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1666
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3861
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9506
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 8313
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2683
bin: 8.25e1
variant carriers: 0

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

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

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: 66724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 2
allele frequency: 1.727712508638562e-4
allele num: 11576
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: 1.93e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.52e0

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

MQRankSum
type: SiteQuality
SIO_000300: 9.360000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.096671e6

FS
type: SiteQuality
SIO_000300: 3.343e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.68e-1

VQSLOD
type: SiteQuality
SIO_000300: 4.63e-1

MQ
type: SiteQuality
SIO_000300: 6.0e1

QD
type: SiteQuality
SIO_000300: 1.086e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000406900
ensembl transcript: ENST00000416108
gene symbol: RBM39
hgvsc: ENST00000416108.1:c.*77C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000385977
ensembl transcript: ENST00000403542
gene symbol: RBM39
hgvsc: ENST00000403542.2:c.*77C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000407466
ensembl transcript: ENST00000433027
gene symbol: RBM39
hgvsc: ENST00000433027.1:c.*134C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000397917
ensembl transcript: ENST00000412738
gene symbol: RBM39
hgvsc: ENST00000412738.1:c.*149C>T
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 23482
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4534
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2702
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5979
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 735
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1003
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 972
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 562
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17261
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1434
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 571
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 4
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9506
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1204
bin: 8.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 14
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3070
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30370
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8311
bin: 9.75e1
variant carriers: 1

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.498711108446736e-5
allele num: 66724
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -2.109e0

ClippingRankSum
type: SiteQuality
SIO_000300: -1.948e0

FS
type: SiteQuality
SIO_000300: 5.688e0

MQ
type: SiteQuality
SIO_000300: 5.941e1

DP
type: SiteQuality
SIO_000300: 2.096457e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.14e0

QD
type: SiteQuality
SIO_000300: 9.890000000000001e0

MQRankSum
type: SiteQuality
SIO_000300: 1.15e0

VQSLOD
type: SiteQuality
SIO_000300: -5.447e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.999999999999999e-4

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000461283
gene symbol: RBM39
hgvsc: ENST00000461283.1:n.92A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000442447
gene symbol: RBM39
hgvsc: ENST00000442447.1:n.446A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000395563
ensembl transcript: ENST00000455343
gene symbol: RBM39
hgvsc: ENST00000455343.1:c.*73A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000389459
ensembl transcript: ENST00000425184
gene symbol: RBM39
hgvsc: ENST00000425184.1:c.*73A>G
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 6
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23478
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 971
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 1002
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4537
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5977
bin: 3.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2701
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 571
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1435
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 735
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17261
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3861
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 19
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1665
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 4
bin: 2.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1203
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3071
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9505
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2682
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30372
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8310
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66724
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

Latino
type: Population
allele count: 1
allele frequency: 8.637070305752289e-5
allele num: 11578
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: 1.03e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.18e0

BaseQRankSum
type: SiteQuality
SIO_000300: 2.4e0

MQRankSum
type: SiteQuality
SIO_000300: 1.1e-1

DP
type: SiteQuality
SIO_000300: 2.096197e6

FS
type: SiteQuality
SIO_000300: 8.080000000000001e-1

MQ
type: SiteQuality
SIO_000300: 5.976e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -2.0e-4

QD
type: SiteQuality
SIO_000300: 1.104e1

ClippingRankSum
type: SiteQuality
SIO_000300: -9.91e-1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000407466
ensembl transcript: ENST00000433027
gene symbol: RBM39
hgvsc: ENST00000433027.1:c.*124G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000487604
gene symbol: RBM39
hgvsc: ENST00000487604.1:n.310G>A
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: synonymous_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000344581
ensembl transcript: ENST00000338163
gene symbol: RBM39
hgvsc: ENST00000338163.6:c.117G>A
hgvsp: ENST00000338163.6:c.117G>A(p.%3D)
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000442447
gene symbol: RBM39
hgvsc: ENST00000442447.1:n.440G>A
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 4528
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1434
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 268
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 426
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5977
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 562
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 341
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 19
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2701
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 571
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23473
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 735
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 971
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17258
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 234
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1001
bin: 9.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1202
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1665
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9504
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 5.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 8309
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3070
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30355
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2683
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3862
bin: 7.75e1
variant carriers: 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: 66714
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8648
num of homozygotes: 0

DP
type: SiteQuality
SIO_000300: 2.095882e6

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.6e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: -4.0e-4

BaseQRankSum
type: SiteQuality
SIO_000300: -2.899e0

VQSLOD
type: SiteQuality
SIO_000300: -1.981e0

MQRankSum
type: SiteQuality
SIO_000300: -8.22e-1

FS
type: SiteQuality
SIO_000300: 1.4687e1

ClippingRankSum
type: SiteQuality
SIO_000300: 5.53e-1

QD
type: SiteQuality
SIO_000300: 1.142e1

MQ
type: SiteQuality
SIO_000300: 5.904e1

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000385977
ensembl transcript: ENST00000403542
gene symbol: RBM39
hgvsc: ENST00000403542.2:c.*58A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000394602
ensembl transcript: ENST00000444878
gene symbol: RBM39
hgvsc: ENST00000444878.1:c.*58A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000395563
ensembl transcript: ENST00000455343
gene symbol: RBM39
hgvsc: ENST00000455343.1:c.*58A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000461283
gene symbol: RBM39
hgvsc: ENST00000461283.1:n.77A>G
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 560
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5972
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 969
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 573
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17248
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 427
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 340
bin: 7.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2694
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 732
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4523
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 22
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1001
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 233
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23450
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1429
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 267
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3859
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9490
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3062
bin: 7.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1662
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 64
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8298
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 4
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 3.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 7
bin: 3.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1199
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2680
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30330
bin: 6.25e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66706
num of homozygotes: 0

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.156336725254394e-4
allele num: 8648
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

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

ClippingRankSum
type: SiteQuality
SIO_000300: -2.912e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.93e0

MQ
type: SiteQuality
SIO_000300: 5.967e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 2.96e0

FS
type: SiteQuality
SIO_000300: 1.0901e1

MQRankSum
type: SiteQuality
SIO_000300: -2.25e-1

QD
type: SiteQuality
SIO_000300: 1.625e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.5e-3

DP
type: SiteQuality
SIO_000300: 2.094439e6

VQSLOD
type: SiteQuality
SIO_000300: -2.426e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000492779
gene symbol: RBM39
hgvsc: ENST00000492779.1:n.677A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000442447
gene symbol: RBM39
hgvsc: ENST00000442447.1:n.430A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000394602
ensembl transcript: ENST00000444878
gene symbol: RBM39
hgvsc: ENST00000444878.1:c.*57A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000477334
gene symbol: RBM39
hgvsc: ENST00000477334.1:n.179A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000481037
gene symbol: RBM39
hgvsc: ENST00000481037.1:n.322A>G
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 46
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 732
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 35
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1429
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2692
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1000
bin: 9.75e1
variant carriers: 3

GenotypeDepth
all individuals: 267
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 178
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 969
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5973
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23448
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 233
bin: 8.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 573
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4524
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 427
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17248
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 340
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9489
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3859
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1662
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3061
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8296
bin: 9.75e1
variant carriers: 3

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

GenotypeQuality
all individuals: 3
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 22
bin: 3.25e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 2681
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30321
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 2
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1199
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 67
bin: 2.25e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10386
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.638562543192812e-5
allele num: 11576
num of homozygotes: 0

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

East Asian
type: Population
allele count: 2
allele frequency: 2.312673450508788e-4
allele num: 8648
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: 4.65e-1

FS
type: SiteQuality
SIO_000300: 0.0e0

BaseQRankSum
type: SiteQuality
SIO_000300: 4.05e0

DP
type: SiteQuality
SIO_000300: 2.094282e6

MQ
type: SiteQuality
SIO_000300: 5.942e1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.129e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.6e-3

VQSLOD
type: SiteQuality
SIO_000300: 3.39e0

MQRankSum
type: SiteQuality
SIO_000300: 4.51e-1

QD
type: SiteQuality
SIO_000300: 1.544e1

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000492779
gene symbol: RBM39
hgvsc: ENST00000492779.1:n.676A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000397917
ensembl transcript: ENST00000412738
gene symbol: RBM39
hgvsc: ENST00000412738.1:c.*128A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000481037
gene symbol: RBM39
hgvsc: ENST00000481037.1:n.321A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000463004
gene symbol: RBM39
hgvsc: ENST00000463004.1:n.2221A>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: 3_prime_UTR_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000385977
ensembl transcript: ENST00000403542
gene symbol: RBM39
hgvsc: ENST00000403542.2:c.*56A>G
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 233
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1005
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 1426
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17242
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5972
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4524
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 734
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 179
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 36
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2692
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 576
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 266
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 23440
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 431
bin: 7.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 969
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 24
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 560
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 6
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1199
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8
bin: 5.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9
bin: 4.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 14
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3854
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 78
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8199
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2679
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3058
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9484
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30305
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 9.25e1
variant carriers: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66594
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 1
allele frequency: 8.646031471554557e-5
allele num: 11566
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10344
num of homozygotes: 0

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

DP
type: SiteQuality
SIO_000300: 2.094624e6

MQRankSum
type: SiteQuality
SIO_000300: -5.74e-1

VQSLOD
type: SiteQuality
SIO_000300: 7.12e-1

MQ
type: SiteQuality
SIO_000300: 5.929e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 2.0e-4

FS
type: SiteQuality
SIO_000300: 1.754e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.69e-1

QD
type: SiteQuality
SIO_000300: 1.326e1

BaseQRankSum
type: SiteQuality
SIO_000300: 1.72e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.05e-1

Annotation
canonical: false
consequence: splice_acceptor_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000394602
ensembl transcript: ENST00000444878
gene symbol: RBM39
hgvsc: ENST00000444878.1:c.*52-2A>C
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: splice_acceptor_variant
consequence: non_coding_transcript_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000463004
gene symbol: RBM39
hgvsc: ENST00000463004.1:n.2217-2A>C
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: splice_acceptor_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000363150
ensembl transcript: ENST00000374038
gene symbol: RBM39
hgvsc: ENST00000374038.3:c.102-2A>C
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: splice_acceptor_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000436747
ensembl transcript: ENST00000528062
gene symbol: RBM39
hgvsc: ENST00000528062.3:c.102-2A>C
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 434
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 583
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 5956
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 982
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4555
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2700
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17222
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23417
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 40
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 259
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1435
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 77
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 563
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 171
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 746
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 951
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1659
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 107
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1207
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3854
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 30179
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 18
bin: 4.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 38
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3062
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 27
bin: 4.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2675
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9477
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8269
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29
bin: 5.25e1
variant carriers: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

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

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

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66692
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 9.648784253184099e-5
allele num: 10364
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: 5.833e1

QD
type: SiteQuality
SIO_000300: 2.31e0

DP
type: SiteQuality
SIO_000300: 2.089453e6

BaseQRankSum
type: SiteQuality
SIO_000300: -3.558e0

FS
type: SiteQuality
SIO_000300: 7.89e0

VQSLOD
type: SiteQuality
SIO_000300: -3.378e0

MQRankSum
type: SiteQuality
SIO_000300: -2.522e0

ReadPosRankSum
type: SiteQuality
SIO_000300: 1.45e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 5.999999999999999e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 3.47e0

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000477334
gene symbol: RBM39
hgvsc: ENST00000477334.1:n.174-5C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000393493
ensembl transcript: ENST00000434927
gene symbol: RBM39
hgvsc: ENST00000434927.1:c.102-5C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000395124
ensembl transcript: ENST00000429968
gene symbol: RBM39
hgvsc: ENST00000429968.1:c.*30-5C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000390303
ensembl transcript: ENST00000449489
gene symbol: RBM39
hgvsc: ENST00000449489.1:c.*107-5C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000407466
ensembl transcript: ENST00000433027
gene symbol: RBM39
hgvsc: ENST00000433027.1:c.*109-5C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000492779
gene symbol: RBM39
hgvsc: ENST00000492779.1:n.667C>T
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 5961
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 232
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 950
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 2707
bin: 4.25e1
variant carriers: 1

GenotypeDepth
all individuals: 166
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1446
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23416
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 88
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4538
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 337
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 583
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17198
bin: 3.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 258
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 983
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 741
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 430
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9433
bin: 6.75e1
variant carriers: 1

GenotypeQuality
all individuals: 124
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 46
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 42
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 131
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1200
bin: 8.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 16
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 13
bin: 1.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3833
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2661
bin: 8.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3041
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 8207
bin: 9.75e1
variant carriers: 1

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

GenotypeQuality
all individuals: 30081
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1645
bin: 9.25e1
variant carriers: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11574
num of homozygotes: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10220
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: 6606
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.006433768264085e-5
allele num: 66524
num of homozygotes: 0

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

BaseQRankSum
type: SiteQuality
SIO_000300: -8.63e-1

DP
type: SiteQuality
SIO_000300: 2.088982e6

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.2e-3

VQSLOD
type: SiteQuality
SIO_000300: -3.446e0

MQRankSum
type: SiteQuality
SIO_000300: -1.007e0

QD
type: SiteQuality
SIO_000300: 3.83e0

FS
type: SiteQuality
SIO_000300: 1.6063e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -1.146e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.62e0

MQ
type: SiteQuality
SIO_000300: 5.849e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000344581
ensembl transcript: ENST00000338163
gene symbol: RBM39
hgvsc: ENST00000338163.6:c.102-6T>C
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000397917
ensembl transcript: ENST00000412738
gene symbol: RBM39
hgvsc: ENST00000412738.1:c.*124-6T>C
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000385977
ensembl transcript: ENST00000403542
gene symbol: RBM39
hgvsc: ENST00000403542.2:c.*52-6T>C
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000363150
ensembl transcript: ENST00000374038
gene symbol: RBM39
hgvsc: ENST00000374038.3:c.102-6T>C
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000481037
gene symbol: RBM39
hgvsc: ENST00000481037.1:n.317-6T>C
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000463004
gene symbol: RBM39
hgvsc: ENST00000463004.1:n.2217-6T>C
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 17186
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 47
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 434
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 991
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 744
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1446
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 589
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 95
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2710
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 39
bin: 1.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4523
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 231
bin: 8.75e1
variant carriers: 1

GenotypeDepth
all individuals: 5957
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23405
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 954
bin: 9.75e1
variant carriers: 2

GenotypeDepth
all individuals: 264
bin: 8.25e1
variant carriers: 1

GenotypeQuality
all individuals: 8328
bin: 9.75e1
variant carriers: 6

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

GenotypeQuality
all individuals: 3056
bin: 7.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 9458
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 133
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3846
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1206
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2679
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1659
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30125
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 36
bin: 4.75e1
variant carriers: 0

African
type: Population
allele count: 6
allele frequency: 5.787037037037037e-4
allele num: 10368
num of homozygotes: 0

South Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 16510
num of homozygotes: 0

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

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

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 66672
num of homozygotes: 0

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

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

DP
type: SiteQuality
SIO_000300: 2.090549e6

FS
type: SiteQuality
SIO_000300: 2.491e0

MQRankSum
type: SiteQuality
SIO_000300: 6.76e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: 9.0e-2

BaseQRankSum
type: SiteQuality
SIO_000300: 3.55e0

QD
type: SiteQuality
SIO_000300: 1.342e1

MQ
type: SiteQuality
SIO_000300: 5.968e1

InbreedingCoeff
type: SiteQuality
SIO_000300: -1.0e-4

ClippingRankSum
type: SiteQuality
SIO_000300: 2.36e-1

VQSLOD
type: SiteQuality
SIO_000300: 1.88e0

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000407466
ensembl transcript: ENST00000433027
gene symbol: RBM39
hgvsc: ENST00000433027.1:c.*109-7T>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000363150
ensembl transcript: ENST00000374038
gene symbol: RBM39
hgvsc: ENST00000374038.3:c.102-7T>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000406900
ensembl transcript: ENST00000416108
gene symbol: RBM39
hgvsc: ENST00000416108.1:c.*52-7T>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000389459
ensembl transcript: ENST00000425184
gene symbol: RBM39
hgvsc: ENST00000425184.1:c.*52-7T>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: non_coding_transcript_exon_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000492779
gene symbol: RBM39
hgvsc: ENST00000492779.1:n.665T>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000344581
ensembl transcript: ENST00000338163
gene symbol: RBM39
hgvsc: ENST00000338163.6:c.102-7T>G
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 51
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 1445
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 263
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5955
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 168
bin: 9.25e1
variant carriers: 1

GenotypeDepth
all individuals: 39
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 570
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 589
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 434
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4520
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 17183
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 989
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 101
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 952
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 342
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 230
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2714
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 744
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23406
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1658
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 31
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30
bin: 2.75e1
variant carriers: 0

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

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

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

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

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

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2681
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3056
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 34
bin: 5.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 143
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 8322
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 9456
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30118
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3845
bin: 7.75e1
variant carriers: 0

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

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

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500105007350515e-5
allele num: 66662
num of homozygotes: 0

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

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

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

BaseQRankSum
type: SiteQuality
SIO_000300: -3.186e0

VQSLOD
type: SiteQuality
SIO_000300: -1.529e0

FS
type: SiteQuality
SIO_000300: 1.3533e1

DP
type: SiteQuality
SIO_000300: 2.090085e6

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.2e-3

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 6.889999999999999e-1

ClippingRankSum
type: SiteQuality
SIO_000300: -1.74e-1

MQRankSum
type: SiteQuality
SIO_000300: 1.06e-1

QD
type: SiteQuality
SIO_000300: 1.285e1

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000363150
ensembl transcript: ENST00000374038
gene symbol: RBM39
hgvsc: ENST00000374038.3:c.102-8C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000385977
ensembl transcript: ENST00000403542
gene symbol: RBM39
hgvsc: ENST00000403542.2:c.*52-8C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000463004
gene symbol: RBM39
hgvsc: ENST00000463004.1:n.2217-8C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000390303
ensembl transcript: ENST00000449489
gene symbol: RBM39
hgvsc: ENST00000449489.1:c.*107-8C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: splice_region_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000487604
gene symbol: RBM39
hgvsc: ENST00000487604.1:n.295-8C>T
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: splice_region_variant
consequence: intron_variant
consequence: NMD_transcript_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000394602
ensembl transcript: ENST00000444878
gene symbol: RBM39
hgvsc: ENST00000444878.1:c.*52-8C>T
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 737
bin: 5.75e1
variant carriers: 4

GenotypeDepth
all individuals: 588
bin: 6.25e1
variant carriers: 9

GenotypeDepth
all individuals: 549
bin: 6.75e1
variant carriers: 9

GenotypeDepth
all individuals: 4477
bin: 2.25e1
variant carriers: 2

GenotypeDepth
all individuals: 2721
bin: 4.25e1
variant carriers: 6

GenotypeDepth
all individuals: 23389
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 46
bin: 1.75e1
variant carriers: 2

GenotypeDepth
all individuals: 437
bin: 7.25e1
variant carriers: 4

GenotypeDepth
all individuals: 1007
bin: 5.25e1
variant carriers: 6

GenotypeDepth
all individuals: 976
bin: 9.75e1
variant carriers: 14

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

GenotypeDepth
all individuals: 1454
bin: 4.75e1
variant carriers: 5

GenotypeDepth
all individuals: 283
bin: 8.25e1
variant carriers: 3

GenotypeDepth
all individuals: 104
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 8.75e1
variant carriers: 3

GenotypeDepth
all individuals: 332
bin: 7.75e1
variant carriers: 7

GenotypeDepth
all individuals: 182
bin: 9.25e1
variant carriers: 3

GenotypeDepth
all individuals: 17168
bin: 3.25e1
variant carriers: 4

GenotypeDepth
all individuals: 5952
bin: 3.75e1
variant carriers: 1

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 5

GenotypeQuality
all individuals: 2619
bin: 8.25e1
variant carriers: 3

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 2

GenotypeQuality
all individuals: 44
bin: 1.25e1
variant carriers: 3

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 1

GenotypeQuality
all individuals: 1609
bin: 9.25e1
variant carriers: 2

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 1

GenotypeQuality
all individuals: 3005
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 893
bin: 2.5e0
variant carriers: 5

GenotypeQuality
all individuals: 9366
bin: 6.75e1
variant carriers: 2

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 5

GenotypeQuality
all individuals: 176
bin: 2.25e1
variant carriers: 3

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 1

GenotypeQuality
all individuals: 29980
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 66
bin: 3.75e1
variant carriers: 5

GenotypeQuality
all individuals: 56
bin: 3.25e1
variant carriers: 1

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 7473
bin: 9.75e1
variant carriers: 42

GenotypeQuality
all individuals: 1162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3765
bin: 7.75e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 47
allele frequency: 7.191382581553338e-4
allele num: 65356
num of homozygotes: 0

African
type: Population
allele count: 20
allele frequency: 2.049180327868853e-3
allele num: 9760
num of homozygotes: 0

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

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

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

VQSLOD
type: SiteQuality
SIO_000300: -5.484e0

FS
type: SiteQuality
SIO_000300: 5.9269e1

BaseQRankSum
type: SiteQuality
SIO_000300: -3.265e0

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.79e-1

MQ
type: SiteQuality
SIO_000300: 5.89e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

DP
type: SiteQuality
SIO_000300: 2.093098e6

QD
type: SiteQuality
SIO_000300: 1.67e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000354437
ensembl transcript: ENST00000361162
gene symbol: RBM39
hgvsc: ENST00000361162.6:c.102-11_102-9dupTTT
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000487604
gene symbol: RBM39
hgvsc: ENST00000487604.1:n.295-11_295-9dupTTT
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000393493
ensembl transcript: ENST00000434927
gene symbol: RBM39
hgvsc: ENST00000434927.1:c.102-11_102-9dupTTT
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000384541
ensembl transcript: ENST00000407261
gene symbol: RBM39
hgvsc: ENST00000407261.4:c.-370-11_-370-9dupTTT
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 104
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 9.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 588
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 5952
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 737
bin: 5.75e1
variant carriers: 1

GenotypeDepth
all individuals: 4477
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1007
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 8.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 2721
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1454
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 17168
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 437
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23389
bin: 2.75e1
variant carriers: 1

GenotypeDepth
all individuals: 976
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 549
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3005
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 9366
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 1

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

GenotypeQuality
all individuals: 893
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1609
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 1162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29980
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 1.75e1
variant carriers: 1

GenotypeQuality
all individuals: 2619
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3765
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7473
bin: 9.75e1
variant carriers: 1

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

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

African
type: Population
allele count: 1
allele frequency: 1.024590163934426e-4
allele num: 9760
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.530081400330498e-5
allele num: 65356
num of homozygotes: 0

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

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

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.79e-1

QD
type: SiteQuality
SIO_000300: 1.67e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

DP
type: SiteQuality
SIO_000300: 2.093098e6

FS
type: SiteQuality
SIO_000300: 5.9269e1

VQSLOD
type: SiteQuality
SIO_000300: -5.484e0

BaseQRankSum
type: SiteQuality
SIO_000300: -3.265e0

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000407466
ensembl transcript: ENST00000433027
gene symbol: RBM39
hgvsc: ENST00000433027.1:c.*109-9delT
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000406900
ensembl transcript: ENST00000416108
gene symbol: RBM39
hgvsc: ENST00000416108.1:c.*52-9delT
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000344581
ensembl transcript: ENST00000338163
gene symbol: RBM39
hgvsc: ENST00000338163.6:c.102-9delT
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000436747
ensembl transcript: ENST00000528062
gene symbol: RBM39
hgvsc: ENST00000528062.3:c.102-9delT
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 64
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 549
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 332
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 104
bin: 1.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 588
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1007
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 5952
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 227
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 737
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 976
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23389
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 4477
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2721
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17168
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 182
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 437
bin: 7.25e1
variant carriers: 1

GenotypeDepth
all individuals: 1454
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 283
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3005
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3765
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 41
bin: 7.5e0
variant carriers: 0

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

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

GenotypeQuality
all individuals: 1162
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 97
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 72
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2619
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7473
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 893
bin: 2.5e0
variant carriers: 0

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

GenotypeQuality
all individuals: 73
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29980
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9366
bin: 6.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1609
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 55
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 106
bin: 5.25e1
variant carriers: 0

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

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11544
num of homozygotes: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 9760
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 65356
num of homozygotes: 0

South Asian
type: Population
allele count: 1
allele frequency: 6.06060606060606e-5
allele num: 16500
num of homozygotes: 0

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

MQRankSum
type: SiteQuality
SIO_000300: -7.4e-2

BaseQRankSum
type: SiteQuality
SIO_000300: -3.265e0

VQSLOD
type: SiteQuality
SIO_000300: -5.484e0

MQ
type: SiteQuality
SIO_000300: 5.89e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 9.4e-3

FS
type: SiteQuality
SIO_000300: 5.9269e1

ClippingRankSum
type: SiteQuality
SIO_000300: 1.69e0

QD
type: SiteQuality
SIO_000300: 1.67e0

ReadPosRankSum
type: SiteQuality
SIO_000300: -7.79e-1

DP
type: SiteQuality
SIO_000300: 2.093098e6

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000384541
ensembl transcript: ENST00000407261
gene symbol: RBM39
hgvsc: ENST00000407261.4:c.-370-9T>C
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000395124
ensembl transcript: ENST00000429968
gene symbol: RBM39
hgvsc: ENST00000429968.1:c.*30-9T>C
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000481037
gene symbol: RBM39
hgvsc: ENST00000481037.1:n.317-9T>C
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: true
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000253363
ensembl transcript: ENST00000253363
gene symbol: RBM39
hgvsc: ENST00000253363.6:c.102-9T>C
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 155
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 505
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 721
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1448
bin: 4.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17305
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 70
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 4493
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 23561
bin: 2.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 904
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 969
bin: 5.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 194
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6020
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 304
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 390
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 542
bin: 6.25e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2726
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 176
bin: 2.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 3844
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 2687
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 2.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 9525
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30380
bin: 6.25e1
variant carriers: 0

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

GenotypeQuality
all individuals: 26
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1651
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 40
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 32
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 28
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3049
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7948
bin: 9.75e1
variant carriers: 2

GenotypeQuality
all individuals: 1205
bin: 8.75e1
variant carriers: 0

East Asian
type: Population
allele count: 1
allele frequency: 1.157675387821255e-4
allele num: 8638
num of homozygotes: 0

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

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500420117632937e-5
allele num: 66648
num of homozygotes: 0

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

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

European (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: 10358
num of homozygotes: 0

QD
type: SiteQuality
SIO_000300: 1.144e1

DP
type: SiteQuality
SIO_000300: 2.072752e6

ReadPosRankSum
type: SiteQuality
SIO_000300: -2.293e0

BaseQRankSum
type: SiteQuality
SIO_000300: 3.92e0

ClippingRankSum
type: SiteQuality
SIO_000300: 3.07e0

MQRankSum
type: SiteQuality
SIO_000300: -8.56e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 1.0e-4

MQ
type: SiteQuality
SIO_000300: 6.0e1

VQSLOD
type: SiteQuality
SIO_000300: -1.172e0

FS
type: SiteQuality
SIO_000300: 5.417e0

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000384541
ensembl transcript: ENST00000407261
gene symbol: RBM39
hgvsc: ENST00000407261.4:c.-370-13T>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000407466
ensembl transcript: ENST00000433027
gene symbol: RBM39
hgvsc: ENST00000433027.1:c.*109-13T>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000436747
ensembl transcript: ENST00000528062
gene symbol: RBM39
hgvsc: ENST00000528062.3:c.102-13T>G
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000354437
ensembl transcript: ENST00000361162
gene symbol: RBM39
hgvsc: ENST00000361162.6:c.102-13T>G
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 4500
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 721
bin: 5.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 304
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17289
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 505
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2725
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6017
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 226
bin: 8.25e1
variant carriers: 0

GenotypeDepth
all individuals: 543
bin: 6.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 89
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 23518
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 903
bin: 9.75e1
variant carriers: 0

GenotypeDepth
all individuals: 193
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 155
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 973
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1450
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 143
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 390
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 26
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 39
bin: 3.25e1
variant carriers: 0

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

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

GenotypeQuality
all individuals: 2688
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3842
bin: 7.75e1
variant carriers: 0

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

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

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

GenotypeQuality
all individuals: 1651
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9520
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 7947
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 216
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 24
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.25e1
variant carriers: 0

GenotypeQuality
all individuals: 12
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30386
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 20
bin: 4.75e1
variant carriers: 0

GenotypeQuality
all individuals: 3050
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1205
bin: 8.75e1
variant carriers: 0

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10354
num of homozygotes: 0

Latino
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 11570
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8636
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.500960614793468e-5
allele num: 66624
num of homozygotes: 0

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

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

QD
type: SiteQuality
SIO_000300: 1.742e1

BaseQRankSum
type: SiteQuality
SIO_000300: 5.11e0

ClippingRankSum
type: SiteQuality
SIO_000300: 1.44e0

MQ
type: SiteQuality
SIO_000300: 6.0e1

ReadPosRankSum
type: SiteQuality
SIO_000300: 3.84e-1

VQSLOD
type: SiteQuality
SIO_000300: -5.02e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: -5.0e-4

FS
type: SiteQuality
SIO_000300: 1.403e0

MQRankSum
type: SiteQuality
SIO_000300: -1.212e0

DP
type: SiteQuality
SIO_000300: 2.071834e6

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000407466
ensembl transcript: ENST00000433027
gene symbol: RBM39
hgvsc: ENST00000433027.1:c.*109-16_*109-15insGTTT
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000436747
ensembl transcript: ENST00000528062
gene symbol: RBM39
hgvsc: ENST00000528062.3:c.102-16_102-15insGTTT
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000477334
gene symbol: RBM39
hgvsc: ENST00000477334.1:n.174-16_174-15insGTTT
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000389459
ensembl transcript: ENST00000425184
gene symbol: RBM39
hgvsc: ENST00000425184.1:c.*52-16_*52-15insGTTT
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 4508
bin: 2.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 23500
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1457
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 194
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 962
bin: 5.25e1
variant carriers: 1

GenotypeDepth
all individuals: 17282
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 6.75e1
variant carriers: 0

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

GenotypeDepth
all individuals: 116
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 708
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 2725
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 6001
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 872
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 148
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 545
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 7596
bin: 9.75e1
variant carriers: 1

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

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

GenotypeQuality
all individuals: 2650
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 8.75e1
variant carriers: 0

GenotypeQuality
all individuals: 291
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3022
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 30185
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 1

GenotypeQuality
all individuals: 3806
bin: 7.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 1623
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

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

GenotypeQuality
all individuals: 9452
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

European (Non-Finnish)
type: Population
allele count: 2
allele frequency: 3.025993282294913e-5
allele num: 66094
num of homozygotes: 0

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

East Asian
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 8618
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: 902
num of homozygotes: 0

VQSLOD
type: SiteQuality
SIO_000300: -5.705e0

QD
type: SiteQuality
SIO_000300: 5.3e-1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

DP
type: SiteQuality
SIO_000300: 2.066112e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.81e0

FS
type: SiteQuality
SIO_000300: 6.0455e1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

BaseQRankSum
type: SiteQuality
SIO_000300: -4.837e0

MQ
type: SiteQuality
SIO_000300: 5.734e1

Annotation
canonical: false
consequence: NMD_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000406900
ensembl transcript: ENST00000416108
gene symbol: RBM39
hgvsc: ENST00000416108.1:c.*52-16_*52-15insGTT
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000384541
ensembl transcript: ENST00000407261
gene symbol: RBM39
hgvsc: ENST00000407261.4:c.-370-16_-370-15insGTT
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000363150
ensembl transcript: ENST00000374038
gene symbol: RBM39
hgvsc: ENST00000374038.3:c.102-16_102-15insGTT
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000477334
gene symbol: RBM39
hgvsc: ENST00000477334.1:n.174-16_174-15insGTT
variant of: http://identifiers.org/hgnc/15923

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

GenotypeDepth
all individuals: 194
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 2725
bin: 4.25e1
variant carriers: 0

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

GenotypeDepth
all individuals: 17282
bin: 3.25e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 7.75e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 396
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 962
bin: 5.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6001
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 116
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 148
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 4508
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 708
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 1457
bin: 4.75e1
variant carriers: 0

GenotypeDepth
all individuals: 64
bin: 1.75e1
variant carriers: 0

GenotypeDepth
all individuals: 23500
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 872
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 498
bin: 6.75e1
variant carriers: 0

GenotypeDepth
all individuals: 545
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0

GenotypeQuality
all individuals: 50
bin: 3.25e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 59
bin: 3.75e1
variant carriers: 0

GenotypeQuality
all individuals: 90
bin: 5.75e1
variant carriers: 0

GenotypeQuality
all individuals: 63
bin: 2.75e1
variant carriers: 0

GenotypeQuality
all individuals: 29
bin: 7.5e0
variant carriers: 0

GenotypeQuality
all individuals: 1623
bin: 9.25e1
variant carriers: 0

GenotypeQuality
all individuals: 1180
bin: 8.75e1
variant carriers: 0

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

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

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

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

GenotypeQuality
all individuals: 7596
bin: 9.75e1
variant carriers: 1

GenotypeQuality
all individuals: 291
bin: 2.25e1
variant carriers: 0

GenotypeQuality
all individuals: 9452
bin: 6.75e1
variant carriers: 0

GenotypeQuality
all individuals: 30185
bin: 6.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3022
bin: 7.25e1
variant carriers: 0

GenotypeQuality
all individuals: 2650
bin: 8.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3806
bin: 7.75e1
variant carriers: 0

European (Non-Finnish)
type: Population
allele count: 1
allele frequency: 1.512996641147457e-5
allele num: 66094
num of homozygotes: 0

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

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

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

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

African
type: Population
allele count: 0
allele frequency: 0.0e0
allele num: 10016
num of homozygotes: 0

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

VQSLOD
type: SiteQuality
SIO_000300: -5.705e0

BaseQRankSum
type: SiteQuality
SIO_000300: -4.837e0

MQRankSum
type: SiteQuality
SIO_000300: 2.35e-1

QD
type: SiteQuality
SIO_000300: 5.3e-1

InbreedingCoeff
type: SiteQuality
SIO_000300: 8.0e-3

DP
type: SiteQuality
SIO_000300: 2.066112e6

ClippingRankSum
type: SiteQuality
SIO_000300: 2.81e0

MQ
type: SiteQuality
SIO_000300: 5.734e1

FS
type: SiteQuality
SIO_000300: 6.0455e1

ReadPosRankSum
type: SiteQuality
SIO_000300: -9.330000000000001e-1

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000354437
ensembl transcript: ENST00000361162
gene symbol: RBM39
hgvsc: ENST00000361162.6:c.102-16dupG
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000477334
gene symbol: RBM39
hgvsc: ENST00000477334.1:n.174-16dupG
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl protein: ENSP00000436747
ensembl transcript: ENST00000528062
gene symbol: RBM39
hgvsc: ENST00000528062.3:c.102-16dupG
variant of: http://identifiers.org/hgnc/15923

Annotation
canonical: false
consequence: non_coding_transcript_variant
consequence: intron_variant
ensembl gene: ENSG00000131051
ensembl transcript: ENST00000442447
gene symbol: RBM39
hgvsc: ENST00000442447.1:n.425-16dupG
variant of: http://identifiers.org/hgnc/15923

GenotypeDepth
all individuals: 148
bin: 9.25e1
variant carriers: 0

GenotypeDepth
all individuals: 872
bin: 9.75e1
variant carriers: 1

GenotypeDepth
all individuals: 2725
bin: 4.25e1
variant carriers: 0

GenotypeDepth
all individuals: 1457
bin: 4.75e1
variant carriers: 1

GenotypeDepth
all individuals: 194
bin: 1.25e1
variant carriers: 0

GenotypeDepth
all individuals: 188
bin: 8.75e1
variant carriers: 0

GenotypeDepth
all individuals: 498
bin: 6.75e1
variant carriers: 1

GenotypeDepth
all individuals: 17282
bin: 3.25e1
variant carriers: 1

GenotypeDepth
all individuals: 64
bin: 1.75e1
variant carriers: 0

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

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

GenotypeDepth
all individuals: 4508
bin: 2.25e1
variant carriers: 0

GenotypeDepth
all individuals: 300
bin: 7.75e1
variant carriers: 1

GenotypeDepth
all individuals: 396
bin: 7.25e1
variant carriers: 0

GenotypeDepth
all individuals: 6001
bin: 3.75e1
variant carriers: 0

GenotypeDepth
all individuals: 708
bin: 5.75e1
variant carriers: 0

GenotypeDepth
all individuals: 545
bin: 6.25e1
variant carriers: 1

GenotypeDepth
all individuals: 23500
bin: 2.75e1
variant carriers: 0

GenotypeDepth
all individuals: 116
bin: 7.5e0
variant carriers: 0

GenotypeDepth
all individuals: 962
bin: 5.25e1
variant carriers: 0

GenotypeQuality
all individuals: 3806
bin: 7.75e1
variant carriers: 0

GenotypeQuality
all individuals: 346
bin: 2.5e0
variant carriers: 0

GenotypeQuality
all individuals: 37
bin: 1.75e1
variant carriers: 0