Q9BXJ4 · C1QT3_HUMAN
- ProteinComplement C1q tumor necrosis factor-related protein 3
- GeneC1QTNF3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids246 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV51468497 | 4 | R>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated - low confidence (0.05) Somatic: Yes Accession: NC_000005.10:g.34043115C>A Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34043115C>A Locations: - p.R4M (NCI-TCGA:ENST00000231338) - p.Arg4Met (cosmic curated:ENST00000231338) - c.11G>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51470150 COSV99180694 | 5 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.18) Somatic: Yes Accession: NC_000005.10:g.34043111C>A Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34043111C>A Locations: - p.Q5H (NCI-TCGA:ENST00000231338) - p.Gln5His (cosmic curated:ENST00000231338) - c.15G>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51469320 | 12 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000005.10:g.34043091A>G Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34043091A>G Locations: - p.L12P (NCI-TCGA:ENST00000231338) - p.Leu12Pro (cosmic curated:ENST00000231338) - c.35T>C (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
rs971247603 | 13 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.000003993 (gnomAD) Accession: NC_000005.10:g.34043088G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34043088G>A Locations: - c.38C>T (NCI-TCGA:ENST00000231338) - p.A13V (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468751 | 17 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000005.10:g.34043077G>A Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34043077G>A Locations: - p.L17F (NCI-TCGA:ENST00000231338) - p.Leu17Phe (cosmic curated:ENST00000231338) - c.49C>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV106339609 rs371214613 | 18 | P>S | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34043074G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34043074G>A Locations: - p.Pro18Ser (cosmic curated:ENST00000231338) - c.52C>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
TCGA novel | 20 | C>A | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000005.10:g.34043068del Consequence type: frameshift Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34043068del Locations: - c.58del (NCI-TCGA:ENST00000231338) - p.C20Afs*132 (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV107222845 | 20 | C>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34043067C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34043067C>A Locations: - p.Cys20Phe (cosmic curated:ENST00000231338) - c.59G>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51467604 | 20 | C>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34043067C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34043067C>G Locations: - p.Cys20Ser (cosmic curated:ENST00000231338) - c.59G>C (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468077 | 21 | L>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34043064A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34043064A>T Locations: - p.Leu21Gln (cosmic curated:ENST00000231338) - c.62T>A (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV99180709 rs750447263 | 27 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Population frequencies: - MAF: 0.000003983 (gnomAD) Accession: NC_000005.10:g.34043047T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34043047T>C Locations: - p.M27V (NCI-TCGA:ENST00000231338) - p.Met27Val (cosmic curated:ENST00000231338) - c.79A>G (cosmic curated:ENST00000231338) Source type: large scale study | |||||||
COSV51467648 | 33 | G>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34035746C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34035746C>A Locations: - p.Gly33Ter (cosmic curated:ENST00000231338) - c.97G>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468632 rs144925287 | 33 | G>R | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34035746C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34035746C>T Locations: - p.Gly33Arg (cosmic curated:ENST00000231338) - c.97G>A (cosmic curated:ENST00000231338) Source type: large scale study | |||||||
COSV106339615 | 37 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34035734G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34035734G>A Locations: - p.Pro37Ser (cosmic curated:ENST00000231338) - c.109C>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV105077901 | 41 | K>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34035721T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34035721T>G Locations: - p.Lys41Thr (cosmic curated:ENST00000231338) - c.122A>C (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV105855846 | 46 | D>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34035707C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34035707C>A Locations: - p.Asp46Tyr (cosmic curated:ENST00000231338) - c.136G>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51467791 rs759158354 | 50 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000004024 (gnomAD) Accession: NC_000005.10:g.34035695G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34035695G>A Locations: - p.R50* (NCI-TCGA:ENST00000231338) - p.Arg50Ter (cosmic curated:ENST00000231338) - c.148C>T (cosmic curated:ENST00000231338) Source type: large scale study | |||||||
COSV51467914 | 51 | G>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34035692C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34035692C>T Locations: - p.Gly51Ser (cosmic curated:ENST00000231338) - c.151G>A (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468847 rs1397590725 | 54 | G>A | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34035682C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34035682C>G Locations: - p.Gly54Ala (cosmic curated:ENST00000231338) - c.161G>C (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51469232 | 55 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.429) - SIFT: tolerated (0.31) Somatic: Yes Accession: NC_000005.10:g.34035680G>A Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34035680G>A Locations: - p.P55S (NCI-TCGA:ENST00000231338) - p.Pro55Ser (cosmic curated:ENST00000231338) - c.163C>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
TCGA novel | 58 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000005.10:g.34035670G>A Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34035670G>A Locations: - c.173C>T (NCI-TCGA:ENST00000231338) - p.P58L (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs142993560 | 59 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000008085 (gnomAD) Accession: NC_000005.10:g.34035667G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34035667G>A Locations: - c.176C>T (NCI-TCGA:ENST00000231338) - p.P59L (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468644 | 60 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.34035664C>T Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34035664C>T Locations: - p.G60D (NCI-TCGA:ENST00000231338) - p.Gly60Asp (cosmic curated:ENST00000231338) - c.179G>A (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468061 rs768912465 | 61 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.386) - SIFT: tolerated (0.61) Somatic: Yes Accession: NC_000005.10:g.34035662G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34035662G>T Locations: - p.P61T (NCI-TCGA:ENST00000231338) - p.Pro61Thr (cosmic curated:ENST00000231338) - c.181C>A (cosmic curated:ENST00000231338) Source type: large scale study | |||||||
COSV51468234 | 63 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34035655C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34035655C>A Locations: - p.Gly63Val (cosmic curated:ENST00000231338) - c.188G>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51470167 | 66 | G>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34035647C>A Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34035647C>A Locations: - p.G66* (NCI-TCGA:ENST00000231338) - p.Gly66Ter (cosmic curated:ENST00000231338) - c.196G>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468465 COSV99180691 rs1255813346 | 69 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000005.10:g.34033449C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033449C>T Locations: - p.G69E (NCI-TCGA:ENST00000231338) - p.Gly69Glu (cosmic curated:ENST00000231338) - c.206G>A (cosmic curated:ENST00000231338) Source type: large scale study | |||||||
COSV51468465 COSV99180691 | 69 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.34033449C>A Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033449C>A Locations: - p.G69V (NCI-TCGA:ENST00000231338) - p.Gly69Val (cosmic curated:ENST00000231338) - c.206G>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
TCGA novel | 72 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.34033441C>T Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033441C>T Locations: - c.214G>A (NCI-TCGA:ENST00000231338) - p.G72S (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 76 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.112) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000005.10:g.34033428G>T Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033428G>T Locations: - c.227C>A (NCI-TCGA:ENST00000231338) - p.A76D (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV51467738 | 78 | G>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34033423C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34033423C>T Locations: - p.Gly78Ser (cosmic curated:ENST00000231338) - c.232G>A (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51467584 | 79 | H>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34033419T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34033419T>C Locations: - p.His79Arg (cosmic curated:ENST00000231338) - c.236A>G (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
TCGA novel | 81 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.34033414C>T Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033414C>T Locations: - c.241G>A (NCI-TCGA:ENST00000231338) - p.G81R (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 83 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.674) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000005.10:g.34033406T>G Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033406T>G Locations: - c.249A>C (NCI-TCGA:ENST00000231338) - p.K83N (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 87 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.34033396C>A Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033396C>A Locations: - c.259G>T (NCI-TCGA:ENST00000231338) - p.G87C (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99180675 | 88 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.924) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000005.10:g.34033393C>A Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033393C>A Locations: - p.D88Y (NCI-TCGA:ENST00000231338) - p.Asp88Tyr (cosmic curated:ENST00000231338) - c.262G>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV99180738 rs1754664479 | 90 | G>D | cosmic curated TOPMed | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34033386C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033386C>T Locations: - p.Gly90Asp (cosmic curated:ENST00000231338) - c.269G>A (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
TCGA novel | 91 | D>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.285) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000005.10:g.34033382G>T Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033382G>T Locations: - c.273C>A (NCI-TCGA:ENST00000231338) - p.D91E (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 92 | L>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000005.10:g.34033380A>T Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033380A>T Locations: - c.275T>A (NCI-TCGA:ENST00000231338) - p.L92Q (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV51468169 | 94 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34033374G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34033374G>A Locations: - p.Pro94Leu (cosmic curated:ENST00000231338) - c.281C>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51467668 rs754470860 | 95 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00001195 (gnomAD) Accession: NC_000005.10:g.34033372G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033372G>A Locations: - p.R95* (NCI-TCGA:ENST00000231338) - p.Arg95Ter (cosmic curated:ENST00000231338) - c.283C>T (cosmic curated:ENST00000231338) Source type: large scale study | |||||||
COSV99180737 | 95 | R>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000005.10:g.34033371C>G Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033371C>G Locations: - p.R95P (NCI-TCGA:ENST00000231338) - p.Arg95Pro (cosmic curated:ENST00000231338) - c.284G>C (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
TCGA novel | 96 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.34033368C>A Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033368C>A Locations: - c.287G>T (NCI-TCGA:ENST00000231338) - p.G96V (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV51469740 | 97 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34033366C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34033366C>A Locations: - p.Glu97Ter (cosmic curated:ENST00000231338) - c.289G>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468513 rs750208893 | 98 | R>Q | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34033362C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033362C>T Locations: - p.Arg98Gln (cosmic curated:ENST00000231338) - c.293G>A (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51467683 rs1185713060 | 98 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.000003988 (gnomAD) Accession: NC_000005.10:g.34033363G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033363G>A Locations: - p.R98W (NCI-TCGA:ENST00000231338) - p.Arg98Trp (cosmic curated:ENST00000231338) - c.292C>T (cosmic curated:ENST00000231338) Source type: large scale study | |||||||
COSV51467676 | 100 | Q>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.37) Somatic: Yes Accession: NC_000005.10:g.34033356T>G Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033356T>G Locations: - p.Q100P (NCI-TCGA:ENST00000231338) - p.Gln100Pro (cosmic curated:ENST00000231338) - c.299A>C (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468453 | 102 | G>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34033351C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34033351C>A Locations: - p.Gly102Cys (cosmic curated:ENST00000231338) - c.304G>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
TCGA novel | 102 | G>W | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000005.10:g.34033351_34033352insA Consequence type: frameshift Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033351_34033352insA Locations: - c.303dup (NCI-TCGA:ENST00000231338) - p.G102Wfs*40 (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV51469681 | 105 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34033342C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34033342C>T Locations: - p.Gly105Arg (cosmic curated:ENST00000231338) - c.313G>A (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51469764 | 107 | K>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34033334C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34033334C>A Locations: - p.Lys107Asn (cosmic curated:ENST00000231338) - c.321G>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468743 | 107 | K>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34033335T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34033335T>C Locations: - p.Lys107Arg (cosmic curated:ENST00000231338) - c.320A>G (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
TCGA novel | 109 | Y>L | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000005.10:g.34033334_34033335insT Consequence type: frameshift Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033334_34033335insT Locations: - c.320dup (NCI-TCGA:ENST00000231338) - p.Y109Lfs*33 (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV51469193 | 109 | Y>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34033329T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34033329T>G Locations: - p.Tyr109Ser (cosmic curated:ENST00000231338) - c.326A>C (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV99180721 | 111 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.34033323C>T Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033323C>T Locations: - p.G111E (NCI-TCGA:ENST00000231338) - p.Gly111Glu (cosmic curated:ENST00000231338) - c.332G>A (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51469132 | 111 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.34033324C>T Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033324C>T Locations: - p.G111R (NCI-TCGA:ENST00000231338) - p.Gly111Arg (cosmic curated:ENST00000231338) - c.331G>A (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468479 rs1579605603 | 113 | P>S | cosmic curated Ensembl | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34033318G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033318G>A Locations: - p.Pro113Ser (cosmic curated:ENST00000231338) - c.337C>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV99180736 rs749754832 | 114 | P>Q | cosmic curated ExAC gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34033314G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033314G>T Locations: - p.Pro114Gln (cosmic curated:ENST00000231338) - c.341C>A (cosmic curated:ENST00000231338) Source type: large scale study | |||||||
COSV99180707 | 115 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34033311T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34033311T>C Locations: - p.Glu115Gly (cosmic curated:ENST00000231338) - c.344A>G (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV99180695 | 117 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34033306G>A Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34033306G>A Locations: - p.Q117* (NCI-TCGA:ENST00000231338) - p.Gln117Ter (cosmic curated:ENST00000231338) - c.349C>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468554 | 120 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000005.10:g.34028875G>T Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34028875G>T Locations: - p.F120L (NCI-TCGA:ENST00000231338) - p.Phe120Leu (cosmic curated:ENST00000231338) - c.360C>A (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV99180734 | 122 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000005.10:g.34028871C>T Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34028871C>T Locations: - p.A122T (NCI-TCGA:ENST00000231338) - p.Ala122Thr (cosmic curated:ENST00000231338) - c.364G>A (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV99180743 | 130 | N>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34028847T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34028847T>G Locations: - p.Asn130His (cosmic curated:ENST00000231338) - c.388A>C (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51469900 rs745473321 | 131 | Q>H | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34028842C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34028842C>A Locations: - p.Gln131His (cosmic curated:ENST00000231338) - c.393G>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV99039625 | 143 | N>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000005.10:g.34028808T>C Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34028808T>C Locations: - c.427A>G (NCI-TCGA:ENST00000231338) - p.N143D (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV99039625 | 143 | N>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34028808T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34028808T>A Locations: - p.Asn143Tyr (cosmic curated:ENST00000231338) - c.427A>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51467903 | 147 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.64) Somatic: Yes Accession: NC_000005.10:g.34028794G>T Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34028794G>T Locations: - c.441C>A (NCI-TCGA:ENST00000231338) - p.F147L (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV107222839 | 148 | F>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34028793A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34028793A>C Locations: - p.Phe148Val (cosmic curated:ENST00000231338) - c.442T>G (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
TCGA novel | 149 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.34028790C>G Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34028790C>G Locations: - c.445G>C (NCI-TCGA:ENST00000231338) - p.D149H (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99180726 rs1378138690 | 153 | G>C | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34028778C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34028778C>A Locations: - p.Gly153Cys (cosmic curated:ENST00000231338) - c.457G>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51469734 | 158 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.667) - SIFT: tolerated (0.27) Somatic: Yes Accession: NC_000005.10:g.34028763G>A Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34028763G>A Locations: - p.P158S (NCI-TCGA:ENST00000231338) - p.Pro158Ser (cosmic curated:ENST00000231338) - c.472C>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468193 | 159 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.549) - SIFT: tolerated (0.16) Somatic: Yes Accession: NC_000005.10:g.34028760C>T Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34028760C>T Locations: - p.V159I (NCI-TCGA:ENST00000231338) - p.Val159Ile (cosmic curated:ENST00000231338) - c.475G>A (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51469099 | 161 | G>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.34024008C>G Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34024008C>G Locations: - p.G161A (NCI-TCGA:ENST00000231338) - p.Gly161Ala (cosmic curated:ENST00000231338) - c.482G>C (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468713 | 161 | G>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34028754C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34028754C>T Locations: - p.Gly161Ser (cosmic curated:ENST00000231338) - c.481G>A (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51467760 | 162 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: tolerated (0.38) Somatic: Yes Accession: NC_000005.10:g.34024006C>A Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34024006C>A Locations: - p.V162L (NCI-TCGA:ENST00000231338) - p.Val162Leu (cosmic curated:ENST00000231338) - c.484G>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV108019469 | 164 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34023998G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34023998G>T Locations: - p.Phe164Leu (cosmic curated:ENST00000231338) - c.492C>A (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51470081 | 166 | T>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34023993G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34023993G>A Locations: - p.Thr166Ile (cosmic curated:ENST00000231338) - c.497C>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468140 | 168 | S>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000005.10:g.34023988T>C Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34023988T>C Locations: - p.S168G (NCI-TCGA:ENST00000231338) - p.Ser168Gly (cosmic curated:ENST00000231338) - c.502A>G (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468345 | 169 | M>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000005.10:g.34023984A>G Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34023984A>G Locations: - p.M169T (NCI-TCGA:ENST00000231338) - p.Met169Thr (cosmic curated:ENST00000231338) - c.506T>C (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
TCGA novel | 170 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000005.10:g.34023980C>A Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34023980C>A Locations: - c.510G>T (NCI-TCGA:ENST00000231338) - p.M170I (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99039624 | 171 | K>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34023979T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34023979T>G Locations: - p.Lys171Gln (cosmic curated:ENST00000231338) - c.511A>C (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468978 | 176 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34023962C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34023962C>A Locations: - p.Glu176Asp (cosmic curated:ENST00000231338) - c.528G>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51469969 | 177 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.23) Somatic: Yes Accession: NC_000005.10:g.34023961C>T Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34023961C>T Locations: - p.E177K (NCI-TCGA:ENST00000231338) - p.Glu177Lys (cosmic curated:ENST00000231338) - c.529G>A (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
TCGA novel | 180 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.444) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000005.10:g.34023951A>G Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34023951A>G Locations: - c.539T>C (NCI-TCGA:ENST00000231338) - p.V180A (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 180 | V>A | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000005.10:g.34023941_34023951del Consequence type: frameshift Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34023941_34023951del Locations: - c.539_549del (NCI-TCGA:ENST00000231338) - p.V180Afs*13 (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV108019465 | 183 | M>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34023943T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34023943T>A Locations: - p.Met183Leu (cosmic curated:ENST00000231338) - c.547A>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV99180723 | 184 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000005.10:g.34023940G>A Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34023940G>A Locations: - p.H184Y (NCI-TCGA:ENST00000231338) - p.His184Tyr (cosmic curated:ENST00000231338) - c.550C>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468926 | 193 | Y>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34023912T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34023912T>A Locations: - p.Tyr193Phe (cosmic curated:ENST00000231338) - c.578A>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51469110 | 198 | K>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34020731T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34020731T>A Locations: - p.Lys198Met (cosmic curated:ENST00000231338) - c.593A>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468614 | 199 | G>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34020728C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34020728C>T Locations: - p.Gly199Asp (cosmic curated:ENST00000231338) - c.596G>A (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV99180685 | 200 | K>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000005.10:g.34020725T>A Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34020725T>A Locations: - p.K200I (NCI-TCGA:ENST00000231338) - p.Lys200Ile (cosmic curated:ENST00000231338) - c.599A>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468786 rs958252835 | 208 | A>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.766) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000005.10:g.34020701G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34020701G>C Locations: - p.A208G (NCI-TCGA:ENST00000231338) - p.Ala208Gly (cosmic curated:ENST00000231338) - c.623C>G (cosmic curated:ENST00000231338) Source type: large scale study | |||||||
COSV99180740 | 211 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.11) Somatic: Yes Accession: NC_000005.10:g.34020691C>G, NC_000005.10:g.34020691C>A Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34020691C>G, NC_000005.10:g.34020691C>A Locations: - p.K211N (NCI-TCGA:ENST00000231338) - p.Lys211Asn (cosmic curated:ENST00000231338) - c.633G>C (cosmic curated:ENST00000231338) - c.633G>T (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51470257 | 214 | K>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34020683T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34020683T>A Locations: - p.Lys214Ile (cosmic curated:ENST00000231338) - c.641A>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV104571730 | 215 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34020680C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34020680C>A Locations: - p.Gly215Val (cosmic curated:ENST00000231338) - c.644G>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV99180733 | 218 | V>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.34020671A>T Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34020671A>T Locations: - p.V218D (NCI-TCGA:ENST00000231338) - p.Val218Asp (cosmic curated:ENST00000231338) - c.653T>A (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468537 | 219 | W>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000005.10:g.34020667C>G Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34020667C>G Locations: - p.W219C (NCI-TCGA:ENST00000231338) - p.Trp219Cys (cosmic curated:ENST00000231338) - c.657G>C (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51467655 rs1173584671 | 221 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000007985 (gnomAD) Accession: NC_000005.10:g.34020663G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34020663G>A Locations: - p.R221* (NCI-TCGA:ENST00000231338) - p.Arg221Ter (cosmic curated:ENST00000231338) - c.661C>T (cosmic curated:ENST00000231338) Source type: large scale study | |||||||
COSV51468315 rs551906960 | 221 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: tolerated (0.47) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000005.10:g.34020662C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34020662C>T Locations: - p.R221Q (NCI-TCGA:ENST00000231338) - p.Arg221Gln (cosmic curated:ENST00000231338) - c.662G>A (cosmic curated:ENST00000231338) Source type: large scale study | |||||||
COSV51468655 rs1754301992 | 227 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.444) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000005.10:g.34020645G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34020645G>C Locations: - p.L227V (NCI-TCGA:ENST00000231338) - p.Leu227Val (cosmic curated:ENST00000231338) - c.679C>G (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51469951 | 228 | H>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34020642G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34020642G>A Locations: - p.His228Tyr (cosmic curated:ENST00000231338) - c.682C>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468812 | 231 | H>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000005.10:g.34020631G>C Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34020631G>C Locations: - p.H231Q (NCI-TCGA:ENST00000231338) - p.His231Gln (cosmic curated:ENST00000231338) - c.693C>G (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV107222855 | 232 | Q>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34020630G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34020630G>A Locations: - p.Gln232Ter (cosmic curated:ENST00000231338) - c.694C>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468527 rs531887921 | 233 | R>C | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34020627G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34020627G>A Locations: - p.Arg233Cys (cosmic curated:ENST00000231338) - c.697C>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV51468593 rs764847188 | 233 | R>H | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34020626C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34020626C>T Locations: - p.Arg233His (cosmic curated:ENST00000231338) - c.698G>A (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
TCGA novel | 236 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.573) - SIFT: deleterious (0) Somatic: No Accession: NC_000005.10:g.34020617G>A Consequence type: missense Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34020617G>A Locations: - c.707C>T (NCI-TCGA:ENST00000231338) - p.T236I (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV105821499 | 238 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34020611G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34020611G>A Locations: - p.Ala238Val (cosmic curated:ENST00000231338) - c.713C>T (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
COSV99180705 | 239 | G>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000005.10:g.34020608C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000005.10:g.34020608C>G Locations: - p.Gly239Ala (cosmic curated:ENST00000231338) - c.716G>C (cosmic curated:ENST00000231338) Source type: large scale study Cross-references: | |||||||
TCGA novel | 241 | L>P | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000005.10:g.34020602_34020603insG Consequence type: frameshift Cytogenetic band: 5p13.2 Genomic location: NC_000005.10:g.34020602_34020603insG Locations: - c.721dup (NCI-TCGA:ENST00000231338) - p.L241Pfs*4 (NCI-TCGA:ENST00000231338) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel |