---
-
allele_string: C/T
assembly_name: GRCh38
colocated_variants:
-
allele_string: C/T
end: 12584876
frequencies:
T:
gnomade: '6.841e-07'
gnomade_afr: 0
gnomade_amr: 0
gnomade_asj: 0
gnomade_eas: 0
gnomade_fin: 0
gnomade_mid: 0
gnomade_nfe: 0
gnomade_remaining: 0
gnomade_sas: '1.159e-05'
id: rs769971095
seq_region_name: 3
start: 12584876
strand: 1
end: 12584876
id: rs769971095
input: rs769971095
most_severe_consequence: missense_variant
seq_region_name: 3
start: 12584876
strand: 1
transcript_consequences:
-
biotype: protein_coding
consequence_terms:
- downstream_gene_variant
distance: 1163
gene_id: ENSG00000075975
gene_symbol: MKRN2
gene_symbol_source: HGNC
hgnc_id: HGNC:7113
impact: MODIFIER
strand: 1
transcript_id: ENST00000170447
variant_allele: T
-
amino_acids: V/I
biotype: protein_coding
cdna_end: 2105
cdna_start: 2105
cds_end: 1774
cds_start: 1774
codons: Gta/Ata
consequence_terms:
- missense_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODERATE
polyphen_prediction: benign
polyphen_score: '0.012'
protein_end: 592
protein_start: 592
sift_prediction: tolerated_low_confidence
sift_score: '0.22'
strand: -1
transcript_id: ENST00000251849
variant_allele: T
-
biotype: protein_coding
consequence_terms:
- downstream_gene_variant
distance: 2373
gene_id: ENSG00000075975
gene_symbol: MKRN2
gene_symbol_source: HGNC
hgnc_id: HGNC:7113
impact: MODIFIER
strand: 1
transcript_id: ENST00000411987
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 1962
cdna_start: 1962
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000423275
variant_allele: T
-
amino_acids: V/I
biotype: protein_coding
cdna_end: 1091
cdna_start: 1091
cds_end: 1093
cds_start: 1093
codons: Gta/Ata
consequence_terms:
- missense_variant
flags:
- cds_start_NF
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 365
protein_start: 365
sift_prediction: tolerated_low_confidence
sift_score: '0.26'
strand: -1
transcript_id: ENST00000432427
variant_allele: T
-
amino_acids: V/I
biotype: protein_coding
cdna_end: 2165
cdna_start: 2165
cds_end: 1834
cds_start: 1834
codons: Gta/Ata
consequence_terms:
- missense_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODERATE
polyphen_prediction: benign
polyphen_score: '0.006'
protein_end: 612
protein_start: 612
sift_prediction: tolerated_low_confidence
sift_score: '0.19'
strand: -1
transcript_id: ENST00000442415
variant_allele: T
-
biotype: protein_coding
consequence_terms:
- downstream_gene_variant
distance: 2250
gene_id: ENSG00000075975
gene_symbol: MKRN2
gene_symbol_source: HGNC
hgnc_id: HGNC:7113
impact: MODIFIER
strand: 1
transcript_id: ENST00000448482
variant_allele: T
-
biotype: retained_intron
cdna_end: 6086
cdna_start: 6086
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000460610
variant_allele: T
-
biotype: retained_intron
consequence_terms:
- downstream_gene_variant
distance: 1765
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000465826
variant_allele: T
-
biotype: retained_intron
cdna_end: 584
cdna_start: 584
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000471449
variant_allele: T
-
biotype: retained_intron
cdna_end: 4054
cdna_start: 4054
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000475353
variant_allele: T
-
biotype: retained_intron
consequence_terms:
- downstream_gene_variant
distance: 3103
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000494557
variant_allele: T
-
biotype: protein_coding
cdna_end: 4275
cdna_start: 4275
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000075975
gene_symbol: MKRN2
gene_symbol_source: HGNC
hgnc_id: HGNC:7113
impact: MODIFIER
strand: 1
transcript_id: ENST00000676541
variant_allele: T
-
biotype: retained_intron
consequence_terms:
- downstream_gene_variant
distance: 1180
gene_id: ENSG00000075975
gene_symbol: MKRN2
gene_symbol_source: HGNC
hgnc_id: HGNC:7113
impact: MODIFIER
strand: 1
transcript_id: ENST00000676544
variant_allele: T
-
biotype: nonsense_mediated_decay
consequence_terms:
- downstream_gene_variant
distance: 1182
gene_id: ENSG00000075975
gene_symbol: MKRN2
gene_symbol_source: HGNC
hgnc_id: HGNC:7113
impact: MODIFIER
strand: 1
transcript_id: ENST00000676701
variant_allele: T
-
biotype: retained_intron
consequence_terms:
- downstream_gene_variant
distance: 1185
gene_id: ENSG00000075975
gene_symbol: MKRN2
gene_symbol_source: HGNC
hgnc_id: HGNC:7113
impact: MODIFIER
strand: 1
transcript_id: ENST00000677008
variant_allele: T
-
biotype: protein_coding
cdna_end: 4105
cdna_start: 4105
consequence_terms:
- 3_prime_UTR_variant
gene_id: ENSG00000075975
gene_symbol: MKRN2
gene_symbol_source: HGNC
hgnc_id: HGNC:7113
impact: MODIFIER
strand: 1
transcript_id: ENST00000677142
variant_allele: T
-
biotype: retained_intron
consequence_terms:
- downstream_gene_variant
distance: 1621
gene_id: ENSG00000075975
gene_symbol: MKRN2
gene_symbol_source: HGNC
hgnc_id: HGNC:7113
impact: MODIFIER
strand: 1
transcript_id: ENST00000677237
variant_allele: T
-
biotype: nonsense_mediated_decay
consequence_terms:
- downstream_gene_variant
distance: 2410
flags:
- cds_start_NF
gene_id: ENSG00000075975
gene_symbol: MKRN2
gene_symbol_source: HGNC
hgnc_id: HGNC:7113
impact: MODIFIER
strand: 1
transcript_id: ENST00000677798
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 2523
cdna_start: 2523
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000075975
gene_symbol: MKRN2
gene_symbol_source: HGNC
hgnc_id: HGNC:7113
impact: MODIFIER
strand: 1
transcript_id: ENST00000677816
variant_allele: T
-
biotype: retained_intron
cdna_end: 2686
cdna_start: 2686
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000075975
gene_symbol: MKRN2
gene_symbol_source: HGNC
hgnc_id: HGNC:7113
impact: MODIFIER
strand: 1
transcript_id: ENST00000677941
variant_allele: T
-
biotype: nonsense_mediated_decay
consequence_terms:
- downstream_gene_variant
distance: 1182
gene_id: ENSG00000075975
gene_symbol: MKRN2
gene_symbol_source: HGNC
hgnc_id: HGNC:7113
impact: MODIFIER
strand: 1
transcript_id: ENST00000679143
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 2076
cdna_start: 2076
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000684903
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 2044
cdna_start: 2044
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000685348
variant_allele: T
-
amino_acids: V/I
biotype: protein_coding
cdna_end: 2099
cdna_start: 2099
cds_end: 1675
cds_start: 1675
codons: Gta/Ata
consequence_terms:
- missense_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 559
protein_start: 559
sift_prediction: tolerated_low_confidence
sift_score: '0.25'
strand: -1
transcript_id: ENST00000685437
variant_allele: T
-
amino_acids: V/I
biotype: protein_coding
cdna_end: 3479
cdna_start: 3479
cds_end: 1774
cds_start: 1774
codons: Gta/Ata
consequence_terms:
- missense_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODERATE
polyphen_prediction: benign
polyphen_score: '0.012'
protein_end: 592
protein_start: 592
sift_prediction: tolerated_low_confidence
sift_score: '0.22'
strand: -1
transcript_id: ENST00000685653
variant_allele: T
-
biotype: retained_intron
cdna_end: 2509
cdna_start: 2509
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000685697
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 2218
cdna_start: 2218
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000685738
variant_allele: T
-
biotype: retained_intron
cdna_end: 5183
cdna_start: 5183
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000686409
variant_allele: T
-
biotype: retained_intron
cdna_end: 4495
cdna_start: 4495
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000686455
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 2095
cdna_start: 2095
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000686762
variant_allele: T
-
biotype: retained_intron
cdna_end: 4228
cdna_start: 4228
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000687257
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 4522
cdna_start: 4522
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000687326
variant_allele: T
-
biotype: retained_intron
cdna_end: 1892
cdna_start: 1892
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000687505
variant_allele: T
-
amino_acids: V/I
biotype: protein_coding
cdna_end: 1988
cdna_start: 1988
cds_end: 1663
cds_start: 1663
codons: Gta/Ata
consequence_terms:
- missense_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 555
protein_start: 555
sift_prediction: tolerated_low_confidence
sift_score: '0.21'
strand: -1
transcript_id: ENST00000687923
variant_allele: T
-
biotype: retained_intron
cdna_end: 2370
cdna_start: 2370
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000688269
variant_allele: T
-
biotype: nonsense_mediated_decay
consequence_terms:
- downstream_gene_variant
distance: 1971
flags:
- cds_start_NF
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000688326
variant_allele: T
-
biotype: retained_intron
cdna_end: 3891
cdna_start: 3891
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000688444
variant_allele: T
-
amino_acids: V/I
biotype: protein_coding
cdna_end: 2076
cdna_start: 2076
cds_end: 1675
cds_start: 1675
codons: Gta/Ata
consequence_terms:
- missense_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 559
protein_start: 559
sift_prediction: tolerated_low_confidence
sift_score: '0.25'
strand: -1
transcript_id: ENST00000688543
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 3656
cdna_start: 3656
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000688625
variant_allele: T
-
biotype: retained_intron
cdna_end: 3202
cdna_start: 3202
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000688803
variant_allele: T
-
biotype: retained_intron
consequence_terms:
- downstream_gene_variant
distance: 13
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000688914
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 1834
cdna_start: 1834
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000689097
variant_allele: T
-
amino_acids: V/I
biotype: protein_coding
cdna_end: 1931
cdna_start: 1931
cds_end: 1597
cds_start: 1597
codons: Gta/Ata
consequence_terms:
- missense_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 533
protein_start: 533
sift_prediction: tolerated
sift_score: '0.19'
strand: -1
transcript_id: ENST00000689389
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 4215
cdna_start: 4215
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000689418
variant_allele: T
-
biotype: retained_intron
cdna_end: 4142
cdna_start: 4142
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000689540
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 2135
cdna_start: 2135
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000689876
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 2177
cdna_start: 2177
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000689914
variant_allele: T
-
amino_acids: V/I
biotype: protein_coding
cdna_end: 1994
cdna_start: 1994
cds_end: 1663
cds_start: 1663
codons: Gta/Ata
consequence_terms:
- missense_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 555
protein_start: 555
sift_prediction: tolerated_low_confidence
sift_score: '0.24'
strand: -1
transcript_id: ENST00000690397
variant_allele: T
-
amino_acids: V/I
biotype: protein_coding
cdna_end: 2093
cdna_start: 2093
cds_end: 1762
cds_start: 1762
codons: Gta/Ata
consequence_terms:
- missense_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 588
protein_start: 588
sift_prediction: tolerated_low_confidence
sift_score: '0.22'
strand: -1
transcript_id: ENST00000690460
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 500
cdna_start: 500
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
flags:
- cds_start_NF
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000690585
variant_allele: T
-
biotype: retained_intron
cdna_end: 2810
cdna_start: 2810
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000690625
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 2229
cdna_start: 2229
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000691396
variant_allele: T
-
biotype: retained_intron
cdna_end: 2827
cdna_start: 2827
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000691643
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 2097
cdna_start: 2097
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000691724
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 1901
cdna_start: 1901
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000691779
variant_allele: T
-
amino_acids: V/I
biotype: protein_coding
cdna_end: 648
cdna_start: 648
cds_end: 649
cds_start: 649
codons: Gta/Ata
consequence_terms:
- missense_variant
flags:
- cds_start_NF
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 217
protein_start: 217
sift_prediction: tolerated_low_confidence
sift_score: '0.21'
strand: -1
transcript_id: ENST00000691888
variant_allele: T
-
amino_acids: V/I
biotype: protein_coding
cdna_end: 1940
cdna_start: 1940
cds_end: 1774
cds_start: 1774
codons: Gta/Ata
consequence_terms:
- missense_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODERATE
polyphen_prediction: benign
polyphen_score: '0.012'
protein_end: 592
protein_start: 592
sift_prediction: tolerated_low_confidence
sift_score: '0.22'
strand: -1
transcript_id: ENST00000691899
variant_allele: T
-
biotype: retained_intron
cdna_end: 4698
cdna_start: 4698
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000692069
variant_allele: T
-
amino_acids: V/I
biotype: protein_coding
cdna_end: 2108
cdna_start: 2108
cds_end: 1675
cds_start: 1675
codons: Gta/Ata
consequence_terms:
- missense_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODERATE
polyphen_prediction: benign
polyphen_score: 0
protein_end: 559
protein_start: 559
sift_prediction: tolerated_low_confidence
sift_score: '0.25'
strand: -1
transcript_id: ENST00000692093
variant_allele: T
-
biotype: retained_intron
cdna_end: 2598
cdna_start: 2598
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000692311
variant_allele: T
-
biotype: retained_intron
cdna_end: 4357
cdna_start: 4357
consequence_terms:
- non_coding_transcript_exon_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000692558
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 2025
cdna_start: 2025
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000692773
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 1755
cdna_start: 1755
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000692830
variant_allele: T
-
amino_acids: V/I
biotype: protein_coding
cdna_end: 1850
cdna_start: 1850
cds_end: 1549
cds_start: 1549
codons: Gta/Ata
consequence_terms:
- missense_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODERATE
polyphen_prediction: benign
polyphen_score: '0.012'
protein_end: 517
protein_start: 517
sift_prediction: tolerated_low_confidence
sift_score: '0.24'
strand: -1
transcript_id: ENST00000693312
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 2034
cdna_start: 2034
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000693664
variant_allele: T
-
biotype: nonsense_mediated_decay
cdna_end: 1463
cdna_start: 1463
consequence_terms:
- 3_prime_UTR_variant
- NMD_transcript_variant
gene_id: ENSG00000132155
gene_symbol: RAF1
gene_symbol_source: HGNC
hgnc_id: HGNC:9829
impact: MODIFIER
strand: -1
transcript_id: ENST00000693705
variant_allele: T