E5RFP6 · E5RFP6_HUMAN
- ProteinVoltage-dependent anion-selective channel protein 3
- GeneVDAC3
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids134 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score2/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV50081999 | 1 | M>? | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42394213T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.42394213T>A Locations: - p.Met1? (cosmic curated:ENST00000522572) - c.2T>A (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs201639978 | 2 | C>R | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.42394215T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42394215T>C Locations: - p.Cys2Arg (Ensembl:ENST00000522572) - c.4T>C (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs762063383 | 4 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42394222C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42394222C>T Locations: - p.Thr4Ile (Ensembl:ENST00000522572) - c.11C>T (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs765375731 | 6 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.45) Somatic: No Accession: NC_000008.11:g.42394227A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42394227A>G Locations: - p.Thr6Ala (Ensembl:ENST00000522572) - c.16A>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs750457762 | 6 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.42394228C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42394228C>T Locations: - p.Thr6Met (Ensembl:ENST00000522572) - c.17C>T (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs750457762 | 6 | T>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42394228C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42394228C>G Locations: - p.Thr6Arg (Ensembl:ENST00000522572) - c.17C>G (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs201176510 | 8 | C>Y | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000008.11:g.42394234G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42394234G>A Locations: - p.Cys8Tyr (Ensembl:ENST00000522572) - c.23G>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs767326390 | 9 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42394236G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42394236G>C Locations: - p.Asp9His (Ensembl:ENST00000522572) - c.25G>C (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs752587830 | 11 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42394243G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42394243G>A Locations: - p.Gly11Glu (Ensembl:ENST00000522572) - c.32G>A (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs1563420496 | 12 | K>E | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.42394245A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42394245A>G Locations: - p.Lys12Glu (Ensembl:ENST00000522572) - c.34A>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs199924272 | 12 | K>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42394246A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42394246A>G Locations: - p.Lys12Arg (Ensembl:ENST00000522572) - c.35A>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs755933123 | 13 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000008.11:g.42394248G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42394248G>A Locations: - p.Ala13Thr (Ensembl:ENST00000522572) - c.37G>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs377007726 | 14 | A>G | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42394252C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42394252C>G Locations: - p.Ala14Gly (Ensembl:ENST00000522572) - c.41C>G (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs1385135660 | 14 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000008.11:g.42394251G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42394251G>A Locations: - p.Ala14Thr (Ensembl:ENST00000522572) - c.40G>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs531688504 | 19 | N>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000008.11:g.42394267A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42394267A>G Locations: - p.Asn19Ser (Ensembl:ENST00000522572) - c.56A>G (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs1802261598 | 20 | K>Q | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.42394269A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42394269A>C Locations: - p.Lys20Gln (Ensembl:ENST00000522572) - c.58A>C (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1802281113 | 25 | G>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000008.11:g.42395089G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42395089G>C Locations: - p.Gly25Arg (Ensembl:ENST00000522572) - c.73G>C (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs753623686 | 26 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000008.11:g.42395092A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42395092A>G Locations: - p.Met26Val (Ensembl:ENST00000522572) - c.76A>G (Ensembl:ENST00000522572) Source type: large scale study | |||||||
COSV50081723 | 27 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42395095G>A Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42395095G>A Locations: - p.V27I (NCI-TCGA:ENST00000522572) - p.Val27Ile (cosmic curated:ENST00000522572) - c.79G>A (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs756971564 | 28 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.42395099A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42395099A>G Locations: - p.Lys28Arg (Ensembl:ENST00000522572) - c.83A>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1180813155 | 29 | I>M | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42395103A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42395103A>G Locations: - p.Ile29Met (Ensembl:ENST00000522572) - c.87A>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1423756334 | 29 | I>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000008.11:g.42395102T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42395102T>C Locations: - p.Ile29Thr (Ensembl:ENST00000522572) - c.86T>C (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs200197744 | 29 | I>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000008.11:g.42395101A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42395101A>G Locations: - p.Ile29Val (Ensembl:ENST00000522572) - c.85A>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs745827430 | 31 | L>M | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.42395107C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42395107C>A Locations: - p.Leu31Met (Ensembl:ENST00000522572) - c.91C>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs771412939 | 32 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42395110A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42395110A>G Locations: - p.Lys32Glu (Ensembl:ENST00000522572) - c.94A>G (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs1238899446 | 35 | S>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000008.11:g.42395119T>G Codon: TCT/GCT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42395119T>G Locations: - p.Ser35Ala (Ensembl:ENST00000522572) - c.103T>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs750040221 | 36 | C>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000008.11:g.42395122T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42395122T>C Locations: - p.Cys36Arg (Ensembl:ENST00000522572) - c.106T>C (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs1224586408 | 36 | C>W | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000008.11:g.42395124T>G Codon: TGT/TGG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42395124T>G Locations: - p.Cys36Trp (Ensembl:ENST00000522572) - c.108T>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs757881553 | 37 | S>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42395125A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42395125A>G Locations: - p.Ser37Gly (Ensembl:ENST00000522572) - c.109A>G (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs902385263 | 38 | G>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000008.11:g.42395129G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42395129G>C Locations: - p.G38A (NCI-TCGA:ENST00000522572) - p.Gly38Ala (Ensembl:ENST00000522572) - c.113G>C (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1802281889 | 38 | G>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000008.11:g.42395128G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42395128G>A Locations: - p.Gly38Arg (Ensembl:ENST00000522572) - c.112G>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1350500635 | 40 | M>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000008.11:g.42396678A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42396678A>T Locations: - p.Met40Leu (Ensembl:ENST00000522572) - c.118A>T (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1802360780 | 41 | E>K | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.42398712G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398712G>A Locations: - p.Glu41Lys (Ensembl:ENST00000522572) - c.121G>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1300952069 | 42 | F>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000008.11:g.42398715T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398715T>C Locations: - p.Phe42Leu (Ensembl:ENST00000522572) - c.124T>C (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1802361111 | 42 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42398716T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398716T>C Locations: - p.Phe42Ser (Ensembl:ENST00000522572) - c.125T>C (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV106328894 | 43 | S>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42398718T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.42398718T>C Locations: - p.Ser43Pro (cosmic curated:ENST00000522572) - c.127T>C (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV99195140 | 44 | T>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42398722C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.42398722C>T Locations: - p.Thr44Ile (cosmic curated:ENST00000522572) - c.131C>T (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1250153978 | 44 | T>N | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42398722C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398722C>A Locations: - p.Thr44Asn (Ensembl:ENST00000522572) - c.131C>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV105002632 rs755583620 | 45 | S>F | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000008.11:g.42398725C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398725C>T Locations: - p.Ser45Phe (Ensembl:ENST00000522572) - c.134C>T (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs781759525 | 46 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.42398728G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398728G>A Locations: - p.Gly46Asp (Ensembl:ENST00000522572) - c.137G>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs781759525 | 46 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42398728G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398728G>T Locations: - p.Gly46Val (Ensembl:ENST00000522572) - c.137G>T (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1000914297 | 47 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000008.11:g.42398731A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398731A>G Locations: - p.His47Arg (Ensembl:ENST00000522572) - c.140A>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1380820930 | 47 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000008.11:g.42398730C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398730C>T Locations: - p.His47Tyr (Ensembl:ENST00000522572) - c.139C>T (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV50082403 | 48 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42398733G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.42398733G>T Locations: - p.Ala48Ser (cosmic curated:ENST00000522572) - c.142G>T (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1802362509 | 48 | A>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000008.11:g.42398733G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398733G>A Locations: - p.Ala48Thr (Ensembl:ENST00000522572) - c.142G>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1161054742 | 50 | T>I | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000008.11:g.42398740C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398740C>T Locations: - p.Thr50Ile (Ensembl:ENST00000522572) - c.149C>T (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs748617160 | 51 | D>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42398742G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398742G>C Locations: - p.Asp51His (Ensembl:ENST00000522572) - c.151G>C (Ensembl:ENST00000522572) Source type: large scale study | |||||||
COSV50081299 rs748617160 | 51 | D>Y | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.42398742G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398742G>T Locations: - p.Asp51Tyr (Ensembl:ENST00000522572) - c.151G>T (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs62508038 | 52 | T>R | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.42398746C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398746C>G Locations: - p.Thr52Arg (Ensembl:ENST00000522572) - c.155C>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs756439293 | 52 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000008.11:g.42398745A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398745A>T Locations: - p.Thr52Ser (Ensembl:ENST00000522572) - c.154A>T (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs749529121 | 53 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42398749G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398749G>A Locations: - p.Gly53Glu (Ensembl:ENST00000522572) - c.158G>A (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs1393929250 | 53 | G>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.42398748G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398748G>A Locations: - p.Gly53Arg (Ensembl:ENST00000522572) - c.157G>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV106328902 | 53 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42398749G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.42398749G>T Locations: - p.Gly53Val (cosmic curated:ENST00000522572) - c.158G>T (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV50081713 | 53 | G>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42398748G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.42398748G>T Locations: - p.Gly53Trp (cosmic curated:ENST00000522572) - c.157G>T (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1426113423 | 55 | A>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.42398754G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398754G>A Locations: - p.Ala55Thr (Ensembl:ENST00000522572) - c.163G>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV99195130 | 57 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42398761G>T Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398761G>T Locations: - p.G57V (NCI-TCGA:ENST00000522572) - p.Gly57Val (cosmic curated:ENST00000522572) - c.170G>T (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV50081306 | 60 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42398769G>T Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398769G>T Locations: - p.E60* (NCI-TCGA:ENST00000522572) - p.Glu60Ter (cosmic curated:ENST00000522572) - c.178G>T (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1030522720 | 61 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42398773C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398773C>T Locations: - p.Thr61Ile (Ensembl:ENST00000522572) - c.182C>T (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1030522720 | 61 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.42398773C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398773C>G Locations: - p.Thr61Ser (Ensembl:ENST00000522572) - c.182C>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1802363347 | 62 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.42398776A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398776A>G Locations: - p.Lys62Arg (Ensembl:ENST00000522572) - c.185A>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1435726044 | 63 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000008.11:g.42398779A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398779A>G Locations: - p.Tyr63Cys (Ensembl:ENST00000522572) - c.188A>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs369947157 | 65 | V>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.25) Somatic: No Accession: NC_000008.11:g.42398784G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398784G>T Locations: - p.Val65Phe (Ensembl:ENST00000522572) - c.193G>T (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs369947157 | 65 | V>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.61) Somatic: No Accession: NC_000008.11:g.42398784G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398784G>A Locations: - p.Val65Ile (Ensembl:ENST00000522572) - c.193G>A (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs200238621 | 66 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000008.11:g.42398788G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398788G>A Locations: - p.Cys66Tyr (Ensembl:ENST00000522572) - c.197G>A (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs745922779 | 68 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000008.11:g.42398794A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398794A>G Locations: - p.Tyr68Cys (Ensembl:ENST00000522572) - c.203A>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV99195132 | 69 | G>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42398796G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.42398796G>T Locations: - p.Gly69Ter (cosmic curated:ENST00000522572) - c.205G>T (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs141938008 | 71 | T>I | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.42398803C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398803C>T Locations: - p.Thr71Ile (Ensembl:ENST00000522572) - c.212C>T (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs141938008 | 71 | T>N | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000008.11:g.42398803C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398803C>A Locations: - p.Thr71Asn (Ensembl:ENST00000522572) - c.212C>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV105836493 rs141938008 | 71 | T>S | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.14) Somatic: Yes Accession: NC_000008.11:g.42398803C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398803C>G Locations: - p.Thr71Ser (Ensembl:ENST00000522572) - c.212C>G (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs776577149 | 73 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000008.11:g.42398808A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398808A>T Locations: - p.Thr73Ser (Ensembl:ENST00000522572) - c.217A>T (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1479810817 | 77 | N>K | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42398822C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398822C>G Locations: - p.Asn77Lys (Ensembl:ENST00000522572) - c.231C>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs139837769 | 78 | T>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42398823A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398823A>G Locations: - p.Thr78Ala (Ensembl:ENST00000522572) - c.232A>G (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs1802364756 | 79 | D>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42398827A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398827A>G Locations: - p.Asp79Gly (Ensembl:ENST00000522572) - c.236A>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1802364904 | 82 | L>I | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42398835C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398835C>A Locations: - p.Leu82Ile (Ensembl:ENST00000522572) - c.244C>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1802365164 | 85 | E>D | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42398846A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398846A>C Locations: - p.Glu85Asp (Ensembl:ENST00000522572) - c.255A>C (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1802365095 | 85 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.42398844G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398844G>C Locations: - p.Glu85Gln (Ensembl:ENST00000522572) - c.253G>C (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs375633342 | 87 | S>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000008.11:g.42398851C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398851C>G Locations: - p.Ser87Cys (Ensembl:ENST00000522572) - c.260C>G (Ensembl:ENST00000522572) Source type: large scale study | |||||||
COSV50082597 | 88 | W>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42398855G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.42398855G>A Locations: - p.Trp88Ter (cosmic curated:ENST00000522572) - c.264G>A (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs2130888300 | 88 | W>S | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000008.11:g.42398854G>C Codon: TGG/TCG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398854G>C Locations: - p.Trp88Ser (Ensembl:ENST00000522572) - c.263G>C (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1423858790 | 89 | E>G | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42398857A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398857A>G Locations: - p.Glu89Gly (Ensembl:ENST00000522572) - c.266A>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1213782504 | 90 | N>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.42398861T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398861T>A Locations: - p.Asn90Lys (Ensembl:ENST00000522572) - c.270T>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs983603854 | 90 | N>S | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000008.11:g.42398860A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398860A>G Locations: - p.Asn90Ser (Ensembl:ENST00000522572) - c.269A>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs766099956 | 91 | K>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000008.11:g.42398862A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398862A>C Locations: - p.Lys91Gln (Ensembl:ENST00000522572) - c.271A>C (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs751166333 | 91 | K>T | ExAC | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42398863A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42398863A>C Locations: - p.Lys91Thr (Ensembl:ENST00000522572) - c.272A>C (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs2130888816 | 92 | L>S | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.42399652T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42399652T>C Locations: - p.Leu92Ser (Ensembl:ENST00000522572) - c.275T>C (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs143116550 | 93 | A>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42399654G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42399654G>C Locations: - p.Ala93Pro (Ensembl:ENST00000522572) - c.277G>C (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs143116550 | 93 | A>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.42399654G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42399654G>T Locations: - p.Ala93Ser (Ensembl:ENST00000522572) - c.277G>T (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV50081448 | 93 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42399654G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.42399654G>A Locations: - p.Ala93Thr (cosmic curated:ENST00000522572) - c.277G>A (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1429868752 | 95 | G>E | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000008.11:g.42399661G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42399661G>A Locations: - p.Gly95Glu (Ensembl:ENST00000522572) - c.284G>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1563422181 | 96 | L>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000008.11:g.42399664T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42399664T>C Locations: - p.Leu96Ser (Ensembl:ENST00000522572) - c.287T>C (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1802382241 | 102 | T>N | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.42399682C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42399682C>A Locations: - p.Thr102Asn (Ensembl:ENST00000522572) - c.305C>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1802382393 | 103 | I>M | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000008.11:g.42399686A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42399686A>G Locations: - p.Ile103Met (Ensembl:ENST00000522572) - c.309A>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV50081357 rs146881544 | 103 | I>T | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: Yes Accession: NC_000008.11:g.42399685T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42399685T>C Locations: - p.Ile103Thr (Ensembl:ENST00000522572) - c.308T>C (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV50082042 | 103 | I>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42399684A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.42399684A>G Locations: - p.Ile103Val (cosmic curated:ENST00000522572) - c.307A>G (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs780055215 | 105 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000008.11:g.42399691T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42399691T>C Locations: - p.Val105Ala (Ensembl:ENST00000522572) - c.314T>C (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs780055215 | 105 | V>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42399691T>G Codon: GTA/GGA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42399691T>G Locations: - p.Val105Gly (Ensembl:ENST00000522572) - c.314T>G (Ensembl:ENST00000522572) Source type: large scale study | |||||||
COSV50081550 rs369188553 | 106 | P>L | cosmic curated ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: Yes Accession: NC_000008.11:g.42399694C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42399694C>T Locations: - p.Pro106Leu (Ensembl:ENST00000522572) - c.317C>T (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV105836492 | 106 | P>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42399694C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.42399694C>A Locations: - p.Pro106Gln (cosmic curated:ENST00000522572) - c.317C>A (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1802382655 | 106 | P>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42399693C>A Codon: CCG/ACG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42399693C>A Locations: - p.Pro106Thr (Ensembl:ENST00000522572) - c.316C>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV50081276 | 110 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42401791G>C Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42401791G>C Locations: - p.K110N (NCI-TCGA:ENST00000522572) - p.Lys110Asn (cosmic curated:ENST00000522572) - c.330G>C (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs771818612 | 110 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.42401790A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42401790A>G Locations: - p.Lys110Arg (Ensembl:ENST00000522572) - c.329A>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV50081284 | 111 | K>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42401794G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.42401794G>T Locations: - p.Lys111Asn (cosmic curated:ENST00000522572) - c.333G>T (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs139393002 | 112 | S>N | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000008.11:g.42401796G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42401796G>A Locations: - p.Ser112Asn (Ensembl:ENST00000522572) - c.335G>A (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs1802419029 | 113 | G>E | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000008.11:g.42401799G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42401799G>A Locations: - p.Gly113Glu (Ensembl:ENST00000522572) - c.338G>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs267601929 | 115 | L>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.42401805T>A Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42401805T>A Locations: - p.Leu115Ter (Ensembl:ENST00000522572) - c.344T>A (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV50082166 rs551923370 | 118 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000008.11:g.42401814C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42401814C>T Locations: - p.S118F (NCI-TCGA:ENST00000522572) - p.Ser118Phe (Ensembl:ENST00000522572) - c.353C>T (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs1406265428 | 119 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42401816T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42401816T>C Locations: - p.Tyr119His (Ensembl:ENST00000522572) - c.355T>C (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs763468220 | 120 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.42401821A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42401821A>T Locations: - p.Lys120Asn (Ensembl:ENST00000522572) - c.360A>T (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV50081497 rs762246519 | 121 | R>Q | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: Yes Accession: NC_000008.11:g.42401823G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42401823G>A Locations: - p.Arg121Gln (Ensembl:ENST00000522572) - c.362G>A (Ensembl:ENST00000522572) Source type: large scale study | |||||||
COSV50082553 rs777196542 | 121 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: Yes Population frequencies: - MAF: 0.00001193 (gnomAD) Accession: NC_000008.11:g.42401822C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42401822C>T Locations: - p.R121W (NCI-TCGA:ENST00000522572) - p.Arg121Trp (Ensembl:ENST00000522572) - c.361C>T (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs765651174 | 124 | F>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.42401832T>G Codon: TTT/TGT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42401832T>G Locations: - p.Phe124Cys (Ensembl:ENST00000522572) - c.371T>G (Ensembl:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs750784380 | 125 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000008.11:g.42401835G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42401835G>A Locations: - p.Ser125Asn (Ensembl:ENST00000522572) - c.374G>A (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs750784380 | 125 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.42401835G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42401835G>C Locations: - p.Ser125Thr (Ensembl:ENST00000522572) - c.374G>C (Ensembl:ENST00000522572) Source type: large scale study | |||||||
rs749391055 | 129 | G>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.42405443G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42405443G>A Locations: - p.Gly129Glu (Ensembl:ENST00000522572) - c.386G>A (Ensembl:ENST00000522572) Source type: large scale study | |||||||
COSV50081372 | 131 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42405450A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.42405450A>C Locations: - p.Glu131Asp (cosmic curated:ENST00000522572) - c.393A>C (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV50081433 | 133 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42405455A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.42405455A>G Locations: - p.Glu133Gly (cosmic curated:ENST00000522572) - c.398A>G (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
COSV50081471 | 133 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.42405454G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000008.11:g.42405454G>A Locations: - p.Glu133Lys (cosmic curated:ENST00000522572) - c.397G>A (cosmic curated:ENST00000522572) Source type: large scale study Cross-references: | |||||||
rs1802482596 | 134 | A>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.47) Somatic: No Accession: NC_000008.11:g.42405458C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 8p11.21 Genomic location: NC_000008.11:g.42405458C>T Locations: - p.Ala134Val (Ensembl:ENST00000522572) - c.401C>T (Ensembl:ENST00000522572) Source type: large scale study Cross-references: |