P23396 · RS3_HUMAN
- ProteinSmall ribosomal subunit protein uS3
- GeneRPS3
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids243 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV53704802 COSV53704554 | 1 | M>? | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75399550G>T, NC_000011.10:g.75399548A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75399550G>T, NC_000011.10:g.75399548A>T Locations: - p.Met1? (cosmic curated:ENST00000531188) - c.3G>T (cosmic curated:ENST00000531188) - p.Met1? (cosmic curated:ENST00000527446) - c.3G>T (cosmic curated:ENST00000527446) - p.Met1? (cosmic curated:ENST00000524851) - c.3G>T (cosmic curated:ENST00000524851) - c.1A>T (cosmic curated:ENST00000531188) - c.1A>T (cosmic curated:ENST00000524851) - c.1A>T (cosmic curated:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs939710830 | 2 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000011.10:g.75399551G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75399551G>C Locations: - p.Ala2Pro (Ensembl:ENST00000524851) - c.4G>C (Ensembl:ENST00000524851) - p.Ala2Pro (Ensembl:ENST00000531188) - c.4G>C (Ensembl:ENST00000531188) - p.Ala2Pro (Ensembl:ENST00000527446) - c.4G>C (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
COSV53705542 | 2 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75399551G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75399551G>T Locations: - p.Ala2Ser (cosmic curated:ENST00000527446) - c.4G>T (cosmic curated:ENST00000527446) - p.Ala2Ser (cosmic curated:ENST00000531188) - c.4G>T (cosmic curated:ENST00000531188) - p.Ala2Ser (cosmic curated:ENST00000524851) - c.4G>T (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs939710830 | 2 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000011.10:g.75399551G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75399551G>A Locations: - p.Ala2Thr (Ensembl:ENST00000524851) - c.4G>A (Ensembl:ENST00000524851) - p.Ala2Thr (Ensembl:ENST00000531188) - c.4G>A (Ensembl:ENST00000531188) - p.Ala2Thr (Ensembl:ENST00000527446) - c.4G>A (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1046077337 | 2 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000011.10:g.75399552C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75399552C>T Locations: - p.Ala2Val (Ensembl:ENST00000527446) - c.5C>T (Ensembl:ENST00000527446) - p.Ala2Val (Ensembl:ENST00000531188) - c.5C>T (Ensembl:ENST00000531188) - p.Ala2Val (Ensembl:ENST00000524851) - c.5C>T (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs1381673730 | 3 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.4) Somatic: No Accession: NC_000011.10:g.75399555T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75399555T>C Locations: - p.Val3Ala (Ensembl:ENST00000524851) - c.8T>C (Ensembl:ENST00000524851) - p.Val3Ala (Ensembl:ENST00000531188) - c.8T>C (Ensembl:ENST00000531188) - p.Val3Ala (Ensembl:ENST00000527446) - c.8T>C (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
COSV53704388 rs1001912436 | 3 | V>L | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: Yes Accession: NC_000011.10:g.75399554G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75399554G>T Locations: - p.Val3Leu (Ensembl:ENST00000531188) - c.7G>T (Ensembl:ENST00000531188) - p.Val3Leu (Ensembl:ENST00000527446) - c.7G>T (Ensembl:ENST00000527446) - p.Val3Leu (Ensembl:ENST00000524851) - c.7G>T (Ensembl:ENST00000524851) Source type: large scale study | |||||||
TCGA novel | 4 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.75399557C>T Consequence type: stop gained Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75399557C>T Locations: - c.10C>T (NCI-TCGA:ENST00000524851) - p.Q4* (NCI-TCGA:ENST00000524851) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV53705317 rs772964979 | 4 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.000007965 (gnomAD) Accession: NC_000011.10:g.75399558A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75399558A>G Locations: - p.Q4R (NCI-TCGA:ENST00000531188) - p.Q4R (NCI-TCGA:ENST00000527446) - p.Q4R (NCI-TCGA:ENST00000524851) - p.Gln4Arg (Ensembl:ENST00000524851) - c.11A>G (Ensembl:ENST00000524851) - p.Gln4Arg (Ensembl:ENST00000527446) - c.11A>G (Ensembl:ENST00000527446) - p.Gln4Arg (Ensembl:ENST00000531188) - c.11A>G (Ensembl:ENST00000531188) Source type: large scale study | |||||||
rs1033354284 | 5 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000011.10:g.75399562A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75399562A>G Locations: - p.Ile5Met (Ensembl:ENST00000524851) - c.15A>G (Ensembl:ENST00000524851) - p.Ile5Met (Ensembl:ENST00000527446) - c.15A>G (Ensembl:ENST00000527446) - p.Ile5Met (Ensembl:ENST00000531188) - c.15A>G (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1415968412 | 5 | I>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000011.10:g.75399560A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75399560A>G Locations: - p.Ile5Val (Ensembl:ENST00000524851) - c.13A>G (Ensembl:ENST00000524851) - p.Ile5Val (Ensembl:ENST00000531188) - c.13A>G (Ensembl:ENST00000531188) - p.Ile5Val (Ensembl:ENST00000527446) - c.13A>G (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1399258948 | 6 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75399564C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75399564C>G Locations: - p.Ser6Cys (Ensembl:ENST00000524851) - c.17C>G (Ensembl:ENST00000524851) - p.Ser6Cys (Ensembl:ENST00000527446) - c.17C>G (Ensembl:ENST00000527446) - p.Ser6Cys (Ensembl:ENST00000531188) - c.17C>G (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1327928698 | 6 | S>P | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75399563T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75399563T>C Locations: - p.Ser6Pro (Ensembl:ENST00000524851) - c.16T>C (Ensembl:ENST00000524851) - p.Ser6Pro (Ensembl:ENST00000531188) - c.16T>C (Ensembl:ENST00000531188) - p.Ser6Pro (Ensembl:ENST00000527446) - c.16T>C (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1327928698 | 6 | S>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000011.10:g.75399563T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75399563T>A Locations: - p.Ser6Thr (Ensembl:ENST00000524851) - c.16T>A (Ensembl:ENST00000524851) - p.Ser6Thr (Ensembl:ENST00000531188) - c.16T>A (Ensembl:ENST00000531188) - p.Ser6Thr (Ensembl:ENST00000527446) - c.16T>A (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1565162329 | 9 | R>K | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000011.10:g.75399573G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75399573G>A Locations: - p.Arg9Lys (Ensembl:ENST00000531188) - c.26G>A (Ensembl:ENST00000531188) - p.Arg9Lys (Ensembl:ENST00000524851) - c.26G>A (Ensembl:ENST00000524851) - p.Arg9Lys (Ensembl:ENST00000527446) - c.26G>A (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1463071170 | 10 | K>N | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75399577G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75399577G>C Locations: - p.Lys10Asn (Ensembl:ENST00000531188) - c.30G>C (Ensembl:ENST00000531188) - p.Lys10Asn (Ensembl:ENST00000524851) - c.30G>C (Ensembl:ENST00000524851) - p.Lys10Asn (Ensembl:ENST00000527446) - c.30G>C (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs748523553 | 11 | F>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75400694T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400694T>A Locations: - p.Phe11Ile (Ensembl:ENST00000531188) - c.31T>A (Ensembl:ENST00000531188) - p.Phe11Ile (Ensembl:ENST00000527446) - c.31T>A (Ensembl:ENST00000527446) - p.Phe11Ile (Ensembl:ENST00000524851) - c.31T>A (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV105123284 | 13 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75400701C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75400701C>T Locations: - p.Ala13Val (cosmic curated:ENST00000527446) - c.38C>T (cosmic curated:ENST00000527446) - p.Ala13Val (cosmic curated:ENST00000531188) - c.38C>T (cosmic curated:ENST00000531188) - p.Ala13Val (cosmic curated:ENST00000524851) - c.38C>T (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs773847813 | 14 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000011.10:g.75400705T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400705T>A Locations: - p.Asp14Glu (Ensembl:ENST00000531188) - c.42T>A (Ensembl:ENST00000531188) - p.Asp14Glu (Ensembl:ENST00000527446) - c.42T>A (Ensembl:ENST00000527446) - p.Asp14Glu (Ensembl:ENST00000524851) - c.42T>A (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
TCGA novel | 15 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.75400707G>A Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400707G>A Locations: - c.44G>A (NCI-TCGA:ENST00000524851) - p.G15D (NCI-TCGA:ENST00000524851) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV53704619 | 15 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.75400706G>C Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400706G>C Locations: - p.G15R (NCI-TCGA:ENST00000524851) - p.Gly15Arg (cosmic curated:ENST00000524851) - c.43G>C (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV53704168 | 17 | F>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75400713T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75400713T>C Locations: - p.Phe17Ser (cosmic curated:ENST00000524851) - c.50T>C (cosmic curated:ENST00000524851) - p.Phe17Ser (cosmic curated:ENST00000527446) - c.50T>C (cosmic curated:ENST00000527446) - p.Phe17Ser (cosmic curated:ENST00000531188) - c.50T>C (cosmic curated:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1002914063 | 17 | F>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75400712T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400712T>G Locations: - p.Phe17Val (Ensembl:ENST00000531188) - c.49T>G (Ensembl:ENST00000531188) - p.Phe17Val (Ensembl:ENST00000527446) - c.49T>G (Ensembl:ENST00000527446) - p.Phe17Val (Ensembl:ENST00000524851) - c.49T>G (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV108077753 | 19 | A>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75400719C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75400719C>A Locations: - p.Ala19Asp (cosmic curated:ENST00000527446) - c.56C>A (cosmic curated:ENST00000527446) - p.Ala19Asp (cosmic curated:ENST00000531188) - c.56C>A (cosmic curated:ENST00000531188) - p.Ala19Asp (cosmic curated:ENST00000524851) - c.56C>A (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV53705711 | 19 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75400718G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75400718G>T Locations: - p.Ala19Ser (cosmic curated:ENST00000531188) - c.55G>T (cosmic curated:ENST00000531188) - p.Ala19Ser (cosmic curated:ENST00000524851) - c.55G>T (cosmic curated:ENST00000524851) - p.Ala19Ser (cosmic curated:ENST00000527446) - c.55G>T (cosmic curated:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1282731545 | 20 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.75400721G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400721G>T Locations: - p.Glu20Ter (Ensembl:ENST00000527446) - c.58G>T (Ensembl:ENST00000527446) - p.Glu20Ter (Ensembl:ENST00000531188) - c.58G>T (Ensembl:ENST00000531188) - p.Glu20Ter (Ensembl:ENST00000524851) - c.58G>T (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV99584419 | 20 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75400722A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75400722A>G Locations: - p.Glu20Gly (cosmic curated:ENST00000527446) - c.59A>G (cosmic curated:ENST00000527446) - p.Glu20Gly (cosmic curated:ENST00000524851) - c.59A>G (cosmic curated:ENST00000524851) - p.Glu20Gly (cosmic curated:ENST00000531188) - c.59A>G (cosmic curated:ENST00000531188) Source type: large scale study Cross-references: | |||||||
COSV53704226 | 22 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000011.10:g.75400729T>A Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400729T>A Locations: - p.N22K (NCI-TCGA:ENST00000524851) - p.Asn22Lys (cosmic curated:ENST00000524851) - c.66T>A (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs776774578 | 23 | E>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.75400731A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400731A>C Locations: - p.Glu23Ala (Ensembl:ENST00000531188) - c.68A>C (Ensembl:ENST00000531188) - p.Glu23Ala (Ensembl:ENST00000527446) - c.68A>C (Ensembl:ENST00000527446) - p.Glu23Ala (Ensembl:ENST00000524851) - c.68A>C (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV53705227 | 23 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75400731A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75400731A>G Locations: - p.Glu23Gly (cosmic curated:ENST00000524851) - c.68A>G (cosmic curated:ENST00000524851) - p.Glu23Gly (cosmic curated:ENST00000531188) - c.68A>G (cosmic curated:ENST00000531188) - p.Glu23Gly (cosmic curated:ENST00000527446) - c.68A>G (cosmic curated:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1942401397 | 24 | F>I | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.75400733T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400733T>A Locations: - p.Phe24Ile (Ensembl:ENST00000527446) - c.70T>A (Ensembl:ENST00000527446) - p.Phe24Ile (Ensembl:ENST00000524851) - c.70T>A (Ensembl:ENST00000524851) - p.Phe24Ile (Ensembl:ENST00000531188) - c.70T>A (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
TCGA novel | 25 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.651) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000011.10:g.75400736C>T Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400736C>T Locations: - c.73C>T (NCI-TCGA:ENST00000524851) - p.L25F (NCI-TCGA:ENST00000524851) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1948197598 | 26 | T>I | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000011.10:g.75400740C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400740C>T Locations: - p.Thr26Ile (Ensembl:ENST00000531188) - c.77C>T (Ensembl:ENST00000531188) - p.Thr26Ile (Ensembl:ENST00000527446) - c.77C>T (Ensembl:ENST00000527446) - p.Thr26Ile (Ensembl:ENST00000524851) - c.77C>T (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs1948197555 | 26 | T>P | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000011.10:g.75400739A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400739A>C Locations: - p.Thr26Pro (Ensembl:ENST00000527446) - c.76A>C (Ensembl:ENST00000527446) - p.Thr26Pro (Ensembl:ENST00000531188) - c.76A>C (Ensembl:ENST00000531188) - p.Thr26Pro (Ensembl:ENST00000524851) - c.76A>C (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
TCGA novel | 28 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.525) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.75400745G>A Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400745G>A Locations: - c.82G>A (NCI-TCGA:ENST00000524851) - p.E28K (NCI-TCGA:ENST00000524851) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV53705449 | 29 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.75400748C>A Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400748C>A Locations: - c.85C>A (NCI-TCGA:ENST00000524851) - p.L29M (NCI-TCGA:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV53704677 | 30 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.314) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000011.10:g.75400752C>A Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400752C>A Locations: - p.A30D (NCI-TCGA:ENST00000524851) - p.Ala30Asp (cosmic curated:ENST00000524851) - c.89C>A (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs765478023 | 34 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.75400763T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400763T>C Locations: - p.Tyr34His (Ensembl:ENST00000531188) - c.100T>C (Ensembl:ENST00000531188) - p.Tyr34His (Ensembl:ENST00000524851) - c.100T>C (Ensembl:ENST00000524851) - p.Tyr34His (Ensembl:ENST00000527446) - c.100T>C (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs765478023 | 34 | Y>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75400763T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400763T>A Locations: - p.Tyr34Asn (Ensembl:ENST00000531188) - c.100T>A (Ensembl:ENST00000531188) - p.Tyr34Asn (Ensembl:ENST00000524851) - c.100T>A (Ensembl:ENST00000524851) - p.Tyr34Asn (Ensembl:ENST00000527446) - c.100T>A (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1948197972 | 35 | S>P | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75400766T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400766T>C Locations: - p.Ser35Pro (Ensembl:ENST00000524851) - c.103T>C (Ensembl:ENST00000524851) - p.Ser35Pro (Ensembl:ENST00000527446) - c.103T>C (Ensembl:ENST00000527446) - p.Ser35Pro (Ensembl:ENST00000531188) - c.103T>C (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs762736053 COSV53704574 | 36 | G>R | ExAC gnomAD cosmic curated | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: Yes Accession: NC_000011.10:g.75400769G>A, NC_000011.10:g.75400769G>C Codon: GGA/AGA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400769G>A, NC_000011.10:g.75400769G>C Locations: - p.Gly36Arg (Ensembl:ENST00000524851) - c.106G>A (Ensembl:ENST00000524851) - p.Gly36Arg (Ensembl:ENST00000527446) - c.106G>A (Ensembl:ENST00000527446) - p.Gly36Arg (Ensembl:ENST00000531188) - c.106G>A (Ensembl:ENST00000531188) - p.Gly36Arg (cosmic curated:ENST00000527446) - c.106G>C (cosmic curated:ENST00000527446) - p.Gly36Arg (cosmic curated:ENST00000531188) - c.106G>C (cosmic curated:ENST00000531188) - p.Gly36Arg (cosmic curated:ENST00000524851) - c.106G>C (cosmic curated:ENST00000524851) Source type: large scale study | |||||||
COSV53704331 | 40 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000011.10:g.75400782G>A Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400782G>A Locations: - p.R40Q (NCI-TCGA:ENST00000524851) - p.Arg40Gln (cosmic curated:ENST00000524851) - c.119G>A (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV53705299 | 43 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75400790C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75400790C>T Locations: - p.Pro43Ser (cosmic curated:ENST00000524851) - c.127C>T (cosmic curated:ENST00000524851) - p.Pro43Ser (cosmic curated:ENST00000527446) - c.127C>T (cosmic curated:ENST00000527446) - p.Pro43Ser (cosmic curated:ENST00000531188) - c.127C>T (cosmic curated:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs766895283 | 44 | T>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000011.10:g.75400794C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400794C>A Locations: - p.Thr44Asn (Ensembl:ENST00000531188) - c.131C>A (Ensembl:ENST00000531188) - p.Thr44Asn (Ensembl:ENST00000527446) - c.131C>A (Ensembl:ENST00000527446) - p.Thr44Asn (Ensembl:ENST00000524851) - c.131C>A (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs1948198347 | 45 | R>K | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000011.10:g.75400797G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400797G>A Locations: - p.Arg45Lys (Ensembl:ENST00000524851) - c.134G>A (Ensembl:ENST00000524851) - p.Arg45Lys (Ensembl:ENST00000531188) - c.134G>A (Ensembl:ENST00000531188) - p.Arg45Lys (Ensembl:ENST00000527446) - c.134G>A (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1345824468 | 48 | I>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000011.10:g.75400805A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400805A>G Locations: - p.Ile48Val (Ensembl:ENST00000527446) - c.142A>G (Ensembl:ENST00000527446) - p.Ile48Val (Ensembl:ENST00000531188) - c.142A>G (Ensembl:ENST00000531188) - p.Ile48Val (Ensembl:ENST00000524851) - c.142A>G (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs755628828 | 49 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.75400808A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400808A>G Locations: - p.Ile49Val (Ensembl:ENST00000531188) - c.145A>G (Ensembl:ENST00000531188) - p.Ile49Val (Ensembl:ENST00000524851) - c.145A>G (Ensembl:ENST00000524851) - p.Ile49Val (Ensembl:ENST00000527446) - c.145A>G (Ensembl:ENST00000527446) Source type: large scale study | |||||||
rs3206671 | 51 | L>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.75400815T>A Codon: TTA/TAA Consequence type: stop gained Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400815T>A Locations: - p.Leu51Ter (Ensembl:ENST00000524851) - c.152T>A (Ensembl:ENST00000524851) - p.Leu51Ter (Ensembl:ENST00000531188) - c.152T>A (Ensembl:ENST00000531188) - p.Leu51Ter (Ensembl:ENST00000527446) - c.152T>A (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
COSV99584250 | 52 | A>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75400817G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75400817G>T Locations: - p.Ala52Ser (cosmic curated:ENST00000531188) - c.154G>T (cosmic curated:ENST00000531188) - p.Ala52Ser (cosmic curated:ENST00000524851) - c.154G>T (cosmic curated:ENST00000524851) - p.Ala52Ser (cosmic curated:ENST00000527446) - c.154G>T (cosmic curated:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1276122131 | 52 | A>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75400817G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400817G>A Locations: - p.Ala52Thr (Ensembl:ENST00000524851) - c.154G>A (Ensembl:ENST00000524851) - p.Ala52Thr (Ensembl:ENST00000531188) - c.154G>A (Ensembl:ENST00000531188) - p.Ala52Thr (Ensembl:ENST00000527446) - c.154G>A (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs11546210 | 52 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.75400818C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75400818C>T Locations: - p.Ala52Val (Ensembl:ENST00000531188) - c.155C>T (Ensembl:ENST00000531188) - p.Ala52Val (Ensembl:ENST00000524851) - c.155C>T (Ensembl:ENST00000524851) - p.Ala52Val (Ensembl:ENST00000527446) - c.155C>T (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs778241086 | 56 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75401644C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401644C>G Locations: - p.Gln56Glu (Ensembl:ENST00000531188) - c.166C>G (Ensembl:ENST00000531188) - p.Gln56Glu (Ensembl:ENST00000527446) - c.166C>G (Ensembl:ENST00000527446) - p.Gln56Glu (Ensembl:ENST00000524851) - c.166C>G (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs757739842 | 64 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.75401669G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401669G>A Locations: - p.Arg64Gln (Ensembl:ENST00000524851) - c.191G>A (Ensembl:ENST00000524851) - p.Arg64Gln (Ensembl:ENST00000531188) - c.191G>A (Ensembl:ENST00000531188) - p.Arg64Gln (Ensembl:ENST00000527446) - c.191G>A (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1366756752 | 65 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.75401672G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401672G>A Locations: - p.Arg65Gln (Ensembl:ENST00000527446) - c.194G>A (Ensembl:ENST00000527446) - p.Arg65Gln (Ensembl:ENST00000524851) - c.194G>A (Ensembl:ENST00000524851) - p.Arg65Gln (Ensembl:ENST00000531188) - c.194G>A (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1948212124 | 65 | R>W | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.75401671C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401671C>T Locations: - p.Arg65Trp (Ensembl:ENST00000527446) - c.193C>T (Ensembl:ENST00000527446) - p.Arg65Trp (Ensembl:ENST00000524851) - c.193C>T (Ensembl:ENST00000524851) - p.Arg65Trp (Ensembl:ENST00000531188) - c.193C>T (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1400923703 | 67 | R>W | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.75401677C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401677C>T Locations: - p.Arg67Trp (Ensembl:ENST00000524851) - c.199C>T (Ensembl:ENST00000524851) - p.Arg67Trp (Ensembl:ENST00000531188) - c.199C>T (Ensembl:ENST00000531188) - p.Arg67Trp (Ensembl:ENST00000527446) - c.199C>T (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
COSV53704154 | 71 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000011.10:g.75401690C>A Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401690C>A Locations: - p.A71D (NCI-TCGA:ENST00000524851) - p.Ala71Asp (cosmic curated:ENST00000524851) - c.212C>A (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV53705060 | 72 | V>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75401693T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75401693T>A Locations: - p.Val72Glu (cosmic curated:ENST00000524851) - c.215T>A (cosmic curated:ENST00000524851) - p.Val72Glu (cosmic curated:ENST00000531188) - c.215T>A (cosmic curated:ENST00000531188) - p.Val72Glu (cosmic curated:ENST00000527446) - c.215T>A (cosmic curated:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs781721862 | 72 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000011.10:g.75401692G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401692G>A Locations: - p.Val72Ile (Ensembl:ENST00000531188) - c.214G>A (Ensembl:ENST00000531188) - p.Val72Ile (Ensembl:ENST00000524851) - c.214G>A (Ensembl:ENST00000524851) - p.Val72Ile (Ensembl:ENST00000527446) - c.214G>A (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs781721862 | 72 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000011.10:g.75401692G>C Codon: GTA/CTA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401692G>C Locations: - p.Val72Leu (Ensembl:ENST00000531188) - c.214G>C (Ensembl:ENST00000531188) - p.Val72Leu (Ensembl:ENST00000524851) - c.214G>C (Ensembl:ENST00000524851) - p.Val72Leu (Ensembl:ENST00000527446) - c.214G>C (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1403609388 | 73 | V>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000011.10:g.75401695G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401695G>A Locations: - p.Val73Ile (Ensembl:ENST00000524851) - c.217G>A (Ensembl:ENST00000524851) - p.Val73Ile (Ensembl:ENST00000527446) - c.217G>A (Ensembl:ENST00000527446) - p.Val73Ile (Ensembl:ENST00000531188) - c.217G>A (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
COSV53704127 rs11546235 | 74 | Q>R | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000011.10:g.75401699A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401699A>G Locations: - p.Gln74Arg (Ensembl:ENST00000531188) - c.221A>G (Ensembl:ENST00000531188) - p.Gln74Arg (Ensembl:ENST00000524851) - c.221A>G (Ensembl:ENST00000524851) - p.Gln74Arg (Ensembl:ENST00000527446) - c.221A>G (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs11546227 | 76 | R>G | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75401704A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401704A>G Locations: - p.Arg76Gly (Ensembl:ENST00000531188) - c.226A>G (Ensembl:ENST00000531188) - p.Arg76Gly (Ensembl:ENST00000524851) - c.226A>G (Ensembl:ENST00000524851) - p.Arg76Gly (Ensembl:ENST00000527446) - c.226A>G (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
COSV53705079 | 76 | R>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75401705G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75401705G>T Locations: - p.Arg76Met (cosmic curated:ENST00000531188) - c.227G>T (cosmic curated:ENST00000531188) - p.Arg76Met (cosmic curated:ENST00000527446) - c.227G>T (cosmic curated:ENST00000527446) - p.Arg76Met (cosmic curated:ENST00000524851) - c.227G>T (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs1229279903 | 77 | F>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75401707T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401707T>A Locations: - p.Phe77Ile (Ensembl:ENST00000527446) - c.229T>A (Ensembl:ENST00000527446) - p.Phe77Ile (Ensembl:ENST00000531188) - c.229T>A (Ensembl:ENST00000531188) - p.Phe77Ile (Ensembl:ENST00000524851) - c.229T>A (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs11546209 | 78 | G>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000011.10:g.75401710G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401710G>C Locations: - p.Gly78Arg (Ensembl:ENST00000524851) - c.232G>C (Ensembl:ENST00000524851) - p.Gly78Arg (Ensembl:ENST00000527446) - c.232G>C (Ensembl:ENST00000527446) - p.Gly78Arg (Ensembl:ENST00000531188) - c.232G>C (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1376284272 | 79 | F>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75401713T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401713T>G Locations: - p.Phe79Val (Ensembl:ENST00000527446) - c.235T>G (Ensembl:ENST00000527446) - p.Phe79Val (Ensembl:ENST00000524851) - c.235T>G (Ensembl:ENST00000524851) - p.Phe79Val (Ensembl:ENST00000531188) - c.235T>G (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs377566662 | 80 | P>L | ESP TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.75401717C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401717C>T Locations: - p.Pro80Leu (Ensembl:ENST00000524851) - c.239C>T (Ensembl:ENST00000524851) - p.Pro80Leu (Ensembl:ENST00000527446) - c.239C>T (Ensembl:ENST00000527446) - p.Pro80Leu (Ensembl:ENST00000531188) - c.239C>T (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs11546212 | 80 | P>S | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.75401716C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401716C>T Locations: - p.Pro80Ser (Ensembl:ENST00000527446) - c.238C>T (Ensembl:ENST00000527446) - p.Pro80Ser (Ensembl:ENST00000524851) - c.238C>T (Ensembl:ENST00000524851) - p.Pro80Ser (Ensembl:ENST00000531188) - c.238C>T (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1281497092 | 81 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.75401719G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401719G>C Locations: - p.Glu81Gln (Ensembl:ENST00000531188) - c.241G>C (Ensembl:ENST00000531188) - p.Glu81Gln (Ensembl:ENST00000527446) - c.241G>C (Ensembl:ENST00000527446) - p.Glu81Gln (Ensembl:ENST00000524851) - c.241G>C (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs959967422 | 83 | S>N | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000011.10:g.75401726G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401726G>A Locations: - p.Ser83Asn (Ensembl:ENST00000527446) - c.248G>A (Ensembl:ENST00000527446) - p.Ser83Asn (Ensembl:ENST00000531188) - c.248G>A (Ensembl:ENST00000531188) - p.Ser83Asn (Ensembl:ENST00000524851) - c.248G>A (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs1948212886 | 85 | E>G | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75401732A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75401732A>G Locations: - p.Glu85Gly (Ensembl:ENST00000527446) - c.254A>G (Ensembl:ENST00000527446) - p.Glu85Gly (Ensembl:ENST00000524851) - c.254A>G (Ensembl:ENST00000524851) - p.Glu85Gly (Ensembl:ENST00000531188) - c.254A>G (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs11546215 | 86 | L>H | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75402353T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402353T>A Locations: - p.Leu86His (Ensembl:ENST00000527446) - c.257T>A (Ensembl:ENST00000527446) - p.Leu86His (Ensembl:ENST00000524851) - c.257T>A (Ensembl:ENST00000524851) - p.Leu86His (Ensembl:ENST00000531188) - c.257T>A (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs11546215 | 86 | L>P | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75402353T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402353T>C Locations: - p.Leu86Pro (Ensembl:ENST00000524851) - c.257T>C (Ensembl:ENST00000524851) - p.Leu86Pro (Ensembl:ENST00000527446) - c.257T>C (Ensembl:ENST00000527446) - p.Leu86Pro (Ensembl:ENST00000531188) - c.257T>C (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1460438636 | 86 | L>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.75402352C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402352C>G Locations: - p.Leu86Val (Ensembl:ENST00000527446) - c.256C>G (Ensembl:ENST00000527446) - p.Leu86Val (Ensembl:ENST00000531188) - c.256C>G (Ensembl:ENST00000531188) - p.Leu86Val (Ensembl:ENST00000524851) - c.256C>G (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs1565163571 | 88 | A>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.75402358G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402358G>C Locations: - p.Ala88Pro (Ensembl:ENST00000524851) - c.262G>C (Ensembl:ENST00000524851) - p.Ala88Pro (Ensembl:ENST00000527446) - c.262G>C (Ensembl:ENST00000527446) - p.Ala88Pro (Ensembl:ENST00000531188) - c.262G>C (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
COSV53705649 | 89 | E>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75402362A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75402362A>C Locations: - p.Glu89Ala (cosmic curated:ENST00000531188) - c.266A>C (cosmic curated:ENST00000531188) - p.Glu89Ala (cosmic curated:ENST00000524851) - c.266A>C (cosmic curated:ENST00000524851) - p.Glu89Ala (cosmic curated:ENST00000527446) - c.266A>C (cosmic curated:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1948222428 | 91 | V>E | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75402368T>A Codon: GTG/GAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402368T>A Locations: - p.Val91Glu (Ensembl:ENST00000524851) - c.272T>A (Ensembl:ENST00000524851) - p.Val91Glu (Ensembl:ENST00000527446) - c.272T>A (Ensembl:ENST00000527446) - p.Val91Glu (Ensembl:ENST00000531188) - c.272T>A (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs11546234 | 91 | V>L | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000011.10:g.75402367G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402367G>T Locations: - p.Val91Leu (Ensembl:ENST00000531188) - c.271G>T (Ensembl:ENST00000531188) - p.Val91Leu (Ensembl:ENST00000524851) - c.271G>T (Ensembl:ENST00000524851) - p.Val91Leu (Ensembl:ENST00000527446) - c.271G>T (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
COSV53704833 | 93 | T>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75402374C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75402374C>T Locations: - p.Thr93Ile (cosmic curated:ENST00000524851) - c.278C>T (cosmic curated:ENST00000524851) - p.Thr93Ile (cosmic curated:ENST00000527446) - c.278C>T (cosmic curated:ENST00000527446) - p.Thr93Ile (cosmic curated:ENST00000531188) - c.278C>T (cosmic curated:ENST00000531188) Source type: large scale study Cross-references: | |||||||
COSV99584487 | 94 | R>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75402377G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75402377G>C Locations: - p.Arg94Thr (cosmic curated:ENST00000527446) - c.281G>C (cosmic curated:ENST00000527446) - p.Arg94Thr (cosmic curated:ENST00000524851) - c.281G>C (cosmic curated:ENST00000524851) - p.Arg94Thr (cosmic curated:ENST00000531188) - c.281G>C (cosmic curated:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1301527696 | 95 | G>D | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75402380G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402380G>A Locations: - p.Gly95Asp (Ensembl:ENST00000524851) - c.284G>A (Ensembl:ENST00000524851) - p.Gly95Asp (Ensembl:ENST00000527446) - c.284G>A (Ensembl:ENST00000527446) - p.Gly95Asp (Ensembl:ENST00000531188) - c.284G>A (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1278023527 | 97 | C>S | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000011.10:g.75402386G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402386G>C Locations: - p.Cys97Ser (Ensembl:ENST00000531188) - c.290G>C (Ensembl:ENST00000531188) - p.Cys97Ser (Ensembl:ENST00000524851) - c.290G>C (Ensembl:ENST00000524851) - p.Cys97Ser (Ensembl:ENST00000527446) - c.290G>C (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1230305698 | 99 | I>F | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000011.10:g.75402391A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402391A>T Locations: - p.Ile99Phe (Ensembl:ENST00000531188) - c.295A>T (Ensembl:ENST00000531188) - p.Ile99Phe (Ensembl:ENST00000524851) - c.295A>T (Ensembl:ENST00000524851) - p.Ile99Phe (Ensembl:ENST00000527446) - c.295A>T (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs2135052854 | 99 | I>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000011.10:g.75402392T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402392T>C Locations: - p.Ile99Thr (Ensembl:ENST00000531188) - c.296T>C (Ensembl:ENST00000531188) - p.Ile99Thr (Ensembl:ENST00000524851) - c.296T>C (Ensembl:ENST00000524851) - p.Ile99Thr (Ensembl:ENST00000527446) - c.296T>C (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
COSV99584325 | 100 | A>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000011.10:g.75402395C>G Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402395C>G Locations: - p.A100G (NCI-TCGA:ENST00000524851) - p.Ala100Gly (cosmic curated:ENST00000524851) - c.299C>G (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV53705421 | 103 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75402405G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75402405G>T Locations: - p.Glu103Asp (cosmic curated:ENST00000524851) - c.309G>T (cosmic curated:ENST00000524851) - p.Glu103Asp (cosmic curated:ENST00000531188) - c.309G>T (cosmic curated:ENST00000531188) - p.Glu103Asp (cosmic curated:ENST00000527446) - c.309G>T (cosmic curated:ENST00000527446) Source type: large scale study Cross-references: | |||||||
COSV53704068 | 104 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.171) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.75402407C>A Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402407C>A Locations: - p.S104Y (NCI-TCGA:ENST00000524851) - p.Ser104Tyr (cosmic curated:ENST00000524851) - c.311C>A (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV53705469 rs528039603 | 106 | R>C | 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 (0.05) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000011.10:g.75402412C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402412C>T Locations: - p.R106C (NCI-TCGA:ENST00000531188) - p.R106C (NCI-TCGA:ENST00000527446) - p.R106C (NCI-TCGA:ENST00000524851) - p.Arg106Cys (Ensembl:ENST00000531188) - c.316C>T (Ensembl:ENST00000531188) - p.Arg106Cys (Ensembl:ENST00000527446) - c.316C>T (Ensembl:ENST00000527446) - p.Arg106Cys (Ensembl:ENST00000524851) - c.316C>T (Ensembl:ENST00000524851) Source type: large scale study | |||||||
rs1948222915 | 106 | R>H | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.75402413G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402413G>A Locations: - p.Arg106His (Ensembl:ENST00000527446) - c.317G>A (Ensembl:ENST00000527446) - p.Arg106His (Ensembl:ENST00000531188) - c.317G>A (Ensembl:ENST00000531188) - p.Arg106His (Ensembl:ENST00000524851) - c.317G>A (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs528039603 | 106 | R>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75402412C>A Codon: CGT/AGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402412C>A Locations: - p.Arg106Ser (Ensembl:ENST00000527446) - c.316C>A (Ensembl:ENST00000527446) - p.Arg106Ser (Ensembl:ENST00000531188) - c.316C>A (Ensembl:ENST00000531188) - p.Arg106Ser (Ensembl:ENST00000524851) - c.316C>A (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV53704357 rs1802703 | 110 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.31) Somatic: Yes Accession: NC_000011.10:g.75402424C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402424C>A Locations: - p.L110I (NCI-TCGA:ENST00000531188) - p.L110I (NCI-TCGA:ENST00000527446) - p.L110I (NCI-TCGA:ENST00000524851) - p.Leu110Ile (Ensembl:ENST00000527446) - c.328C>A (Ensembl:ENST00000527446) - p.Leu110Ile (Ensembl:ENST00000531188) - c.328C>A (Ensembl:ENST00000531188) - p.Leu110Ile (Ensembl:ENST00000524851) - c.328C>A (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
TCGA novel | 112 | G>missing | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: inframe deletion Somatic: No Accession: NC_000011.10:g.75402426_75402428del Consequence type: inframe deletion Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402426_75402428del Locations: - c.333_335del (NCI-TCGA:ENST00000524851) - p.G112del (NCI-TCGA:ENST00000524851) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99584443 | 114 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000011.10:g.75402437C>A Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402437C>A Locations: - p.A114D (NCI-TCGA:ENST00000524851) - p.Ala114Asp (cosmic curated:ENST00000524851) - c.341C>A (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV104591736 | 114 | A>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75402437C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75402437C>G Locations: - p.Ala114Gly (cosmic curated:ENST00000524851) - c.341C>G (cosmic curated:ENST00000524851) - p.Ala114Gly (cosmic curated:ENST00000527446) - c.341C>G (cosmic curated:ENST00000527446) - p.Ala114Gly (cosmic curated:ENST00000531188) - c.341C>G (cosmic curated:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs776751854 | 114 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.75402436G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402436G>C Locations: - p.Ala114Pro (Ensembl:ENST00000524851) - c.340G>C (Ensembl:ENST00000524851) - p.Ala114Pro (Ensembl:ENST00000527446) - c.340G>C (Ensembl:ENST00000527446) - p.Ala114Pro (Ensembl:ENST00000531188) - c.340G>C (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
COSV99584443 | 114 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.363) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000011.10:g.75402437C>T Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75402437C>T Locations: - c.341C>T (NCI-TCGA:ENST00000524851) - p.A114V (NCI-TCGA:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs1948248021 | 120 | Y>F | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75404028A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404028A>T Locations: - p.Tyr120Phe (Ensembl:ENST00000527446) - c.359A>T (Ensembl:ENST00000527446) - p.Tyr120Phe (Ensembl:ENST00000531188) - c.359A>T (Ensembl:ENST00000531188) - p.Tyr120Phe (Ensembl:ENST00000524851) - c.359A>T (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV53704273 | 122 | V>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75404034T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75404034T>C Locations: - p.Val122Ala (cosmic curated:ENST00000524851) - c.365T>C (cosmic curated:ENST00000524851) - p.Val122Ala (cosmic curated:ENST00000531188) - c.365T>C (cosmic curated:ENST00000531188) - p.Val122Ala (cosmic curated:ENST00000527446) - c.365T>C (cosmic curated:ENST00000527446) Source type: large scale study Cross-references: | |||||||
COSV53705142 | 124 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000011.10:g.75404040G>A Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404040G>A Locations: - p.R124Q (NCI-TCGA:ENST00000524851) - p.Arg124Gln (cosmic curated:ENST00000524851) - c.371G>A (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs1948248169 | 124 | R>W | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000011.10:g.75404039C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404039C>T Locations: - p.Arg124Trp (Ensembl:ENST00000527446) - c.370C>T (Ensembl:ENST00000527446) - p.Arg124Trp (Ensembl:ENST00000524851) - c.370C>T (Ensembl:ENST00000524851) - p.Arg124Trp (Ensembl:ENST00000531188) - c.370C>T (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1948248252 | 126 | I>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000011.10:g.75404045A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404045A>G Locations: - p.Ile126Val (Ensembl:ENST00000524851) - c.376A>G (Ensembl:ENST00000524851) - p.Ile126Val (Ensembl:ENST00000527446) - c.376A>G (Ensembl:ENST00000527446) - p.Ile126Val (Ensembl:ENST00000531188) - c.376A>G (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1019933958 | 127 | M>L | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75404048A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404048A>C Locations: - p.Met127Leu (Ensembl:ENST00000524851) - c.379A>C (Ensembl:ENST00000524851) - p.Met127Leu (Ensembl:ENST00000527446) - c.379A>C (Ensembl:ENST00000527446) - p.Met127Leu (Ensembl:ENST00000531188) - c.379A>C (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
COSV106094243 TCGA novel | 131 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.75404061C>T Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404061C>T Locations: - p.A131V (NCI-TCGA:ENST00000524851) - p.Ala131Val (cosmic curated:ENST00000524851) - c.392C>T (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV53704755 | 132 | K>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75404065A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75404065A>T Locations: - p.Lys132Asn (cosmic curated:ENST00000531188) - c.396A>T (cosmic curated:ENST00000531188) - p.Lys132Asn (cosmic curated:ENST00000524851) - c.396A>T (cosmic curated:ENST00000524851) - p.Lys132Asn (cosmic curated:ENST00000527446) - c.396A>T (cosmic curated:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs11546221 | 132 | K>Q | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000011.10:g.75404063A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404063A>C Locations: - p.Lys132Gln (Ensembl:ENST00000524851) - c.394A>C (Ensembl:ENST00000524851) - p.Lys132Gln (Ensembl:ENST00000527446) - c.394A>C (Ensembl:ENST00000527446) - p.Lys132Gln (Ensembl:ENST00000531188) - c.394A>C (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1948248592 | 135 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75404072G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404072G>C Locations: - p.Glu135Gln (Ensembl:ENST00000524851) - c.403G>C (Ensembl:ENST00000524851) - p.Glu135Gln (Ensembl:ENST00000531188) - c.403G>C (Ensembl:ENST00000531188) - p.Glu135Gln (Ensembl:ENST00000527446) - c.403G>C (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs11546219 | 140 | G>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75404087G>C Codon: GGG/CGG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404087G>C Locations: - p.Gly140Arg (Ensembl:ENST00000524851) - c.418G>C (Ensembl:ENST00000524851) - p.Gly140Arg (Ensembl:ENST00000531188) - c.418G>C (Ensembl:ENST00000531188) - p.Gly140Arg (Ensembl:ENST00000527446) - c.418G>C (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1802701 | 142 | L>I | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.75404093C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404093C>A Locations: - p.Leu142Ile (Ensembl:ENST00000524851) - c.424C>A (Ensembl:ENST00000524851) - p.Leu142Ile (Ensembl:ENST00000531188) - c.424C>A (Ensembl:ENST00000531188) - p.Leu142Ile (Ensembl:ENST00000527446) - c.424C>A (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
COSV53705240 | 143 | R>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75404096C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75404096C>T Locations: - p.Arg143Ter (cosmic curated:ENST00000524851) - c.427C>T (cosmic curated:ENST00000524851) - p.Arg143Ter (cosmic curated:ENST00000531188) - c.427C>T (cosmic curated:ENST00000531188) - p.Arg143Ter (cosmic curated:ENST00000527446) - c.427C>T (cosmic curated:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1424228633 | 147 | A>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75404108G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404108G>A Locations: - p.Ala147Thr (Ensembl:ENST00000531188) - c.439G>A (Ensembl:ENST00000531188) - p.Ala147Thr (Ensembl:ENST00000527446) - c.439G>A (Ensembl:ENST00000527446) - p.Ala147Thr (Ensembl:ENST00000524851) - c.439G>A (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV53705722 | 151 | K>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75404122G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75404122G>T Locations: - p.Lys151Asn (cosmic curated:ENST00000531188) - c.453G>T (cosmic curated:ENST00000531188) - p.Lys151Asn (cosmic curated:ENST00000527446) - c.453G>T (cosmic curated:ENST00000527446) - p.Lys151Asn (cosmic curated:ENST00000524851) - c.453G>T (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs760942337 | 153 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000011.10:g.75404127T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404127T>C Locations: - p.Val153Ala (Ensembl:ENST00000524851) - c.458T>C (Ensembl:ENST00000524851) - p.Val153Ala (Ensembl:ENST00000527446) - c.458T>C (Ensembl:ENST00000527446) - p.Val153Ala (Ensembl:ENST00000531188) - c.458T>C (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
COSV99584427 rs1948249308 | 153 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000011.10:g.75404126G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404126G>C Locations: - p.V153L (NCI-TCGA:ENST00000531188) - p.V153L (NCI-TCGA:ENST00000527446) - p.V153L (NCI-TCGA:ENST00000524851) - p.Val153Leu (Ensembl:ENST00000531188) - c.457G>C (Ensembl:ENST00000531188) - p.Val153Leu (Ensembl:ENST00000527446) - c.457G>C (Ensembl:ENST00000527446) - p.Val153Leu (Ensembl:ENST00000524851) - c.457G>C (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs1261132427 | 157 | M>K | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75404139T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404139T>A Locations: - p.Met157Lys (Ensembl:ENST00000524851) - c.470T>A (Ensembl:ENST00000524851) - p.Met157Lys (Ensembl:ENST00000531188) - c.470T>A (Ensembl:ENST00000531188) - p.Met157Lys (Ensembl:ENST00000527446) - c.470T>A (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
COSV53704458 | 158 | I>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75404142T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75404142T>C Locations: - p.Ile158Thr (cosmic curated:ENST00000527446) - c.473T>C (cosmic curated:ENST00000527446) - p.Ile158Thr (cosmic curated:ENST00000524851) - c.473T>C (cosmic curated:ENST00000524851) - p.Ile158Thr (cosmic curated:ENST00000531188) - c.473T>C (cosmic curated:ENST00000531188) Source type: large scale study Cross-references: | |||||||
COSV106394083 | 161 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75404150G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75404150G>A Locations: - p.Gly161Arg (cosmic curated:ENST00000531188) - c.481G>A (cosmic curated:ENST00000531188) - p.Gly161Arg (cosmic curated:ENST00000527446) - c.481G>A (cosmic curated:ENST00000527446) - p.Gly161Arg (cosmic curated:ENST00000524851) - c.481G>A (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
TCGA novel | 162 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.75404153G>T Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404153G>T Locations: - c.484G>T (NCI-TCGA:ENST00000524851) - p.D162Y (NCI-TCGA:ENST00000524851) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1244837718 | 164 | V>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000011.10:g.75404159G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404159G>A Locations: - p.Val164Ile (Ensembl:ENST00000524851) - c.490G>A (Ensembl:ENST00000524851) - p.Val164Ile (Ensembl:ENST00000531188) - c.490G>A (Ensembl:ENST00000531188) - p.Val164Ile (Ensembl:ENST00000527446) - c.490G>A (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs765258151 | 165 | N>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.75404163A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404163A>T Locations: - p.Asn165Ile (Ensembl:ENST00000531188) - c.494A>T (Ensembl:ENST00000531188) - p.Asn165Ile (Ensembl:ENST00000527446) - c.494A>T (Ensembl:ENST00000527446) - p.Asn165Ile (Ensembl:ENST00000524851) - c.494A>T (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs752738974 | 165 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000011.10:g.75404164C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404164C>G Locations: - p.Asn165Lys (Ensembl:ENST00000527446) - c.495C>G (Ensembl:ENST00000527446) - p.Asn165Lys (Ensembl:ENST00000531188) - c.495C>G (Ensembl:ENST00000531188) - p.Asn165Lys (Ensembl:ENST00000524851) - c.495C>G (Ensembl:ENST00000524851) Source type: large scale study | |||||||
rs1232968412 | 167 | Y>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000011.10:g.75404169A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404169A>T Locations: - p.Tyr167Phe (Ensembl:ENST00000527446) - c.500A>T (Ensembl:ENST00000527446) - p.Tyr167Phe (Ensembl:ENST00000531188) - c.500A>T (Ensembl:ENST00000531188) - p.Tyr167Phe (Ensembl:ENST00000524851) - c.500A>T (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV53704866 | 168 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.73) Somatic: Yes Accession: NC_000011.10:g.75404171G>A Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404171G>A Locations: - p.V168I (NCI-TCGA:ENST00000524851) - p.Val168Ile (cosmic curated:ENST00000524851) - c.502G>A (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs1948250019 | 170 | T>A | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000011.10:g.75404177A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404177A>G Locations: - p.Thr170Ala (Ensembl:ENST00000527446) - c.508A>G (Ensembl:ENST00000527446) - p.Thr170Ala (Ensembl:ENST00000524851) - c.508A>G (Ensembl:ENST00000524851) - p.Thr170Ala (Ensembl:ENST00000531188) - c.508A>G (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
COSV53704852 rs1948250058 | 170 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000011.10:g.75404178C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404178C>T Locations: - p.T170I (NCI-TCGA:ENST00000531188) - p.T170I (NCI-TCGA:ENST00000527446) - p.T170I (NCI-TCGA:ENST00000524851) - p.Thr170Ile (Ensembl:ENST00000531188) - c.509C>T (Ensembl:ENST00000531188) - p.Thr170Ile (Ensembl:ENST00000527446) - c.509C>T (Ensembl:ENST00000527446) - p.Thr170Ile (Ensembl:ENST00000524851) - c.509C>T (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV53705278 rs747317928 | 173 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: Yes Population frequencies: - MAF: 0.000007968 (gnomAD) Accession: NC_000011.10:g.75404186C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404186C>T Locations: - p.R173C (NCI-TCGA:ENST00000531188) - p.R173C (NCI-TCGA:ENST00000527446) - p.R173C (NCI-TCGA:ENST00000524851) - p.Arg173Cys (Ensembl:ENST00000531188) - c.517C>T (Ensembl:ENST00000531188) - p.Arg173Cys (Ensembl:ENST00000527446) - c.517C>T (Ensembl:ENST00000527446) - p.Arg173Cys (Ensembl:ENST00000524851) - c.517C>T (Ensembl:ENST00000524851) Source type: large scale study | |||||||
rs201666763 | 173 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000011.10:g.75404187G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404187G>A Locations: - p.Arg173His (Ensembl:ENST00000531188) - c.518G>A (Ensembl:ENST00000531188) - p.Arg173His (Ensembl:ENST00000524851) - c.518G>A (Ensembl:ENST00000524851) - p.Arg173His (Ensembl:ENST00000527446) - c.518G>A (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1360641558 | 174 | H>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75404190A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404190A>G Locations: - p.His174Arg (Ensembl:ENST00000524851) - c.521A>G (Ensembl:ENST00000524851) - p.His174Arg (Ensembl:ENST00000527446) - c.521A>G (Ensembl:ENST00000527446) - p.His174Arg (Ensembl:ENST00000531188) - c.521A>G (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
COSV104591737 | 175 | V>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75404192G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75404192G>A Locations: - p.Val175Met (cosmic curated:ENST00000524851) - c.523G>A (cosmic curated:ENST00000524851) - p.Val175Met (cosmic curated:ENST00000527446) - c.523G>A (cosmic curated:ENST00000527446) - p.Val175Met (cosmic curated:ENST00000531188) - c.523G>A (cosmic curated:ENST00000531188) Source type: large scale study Cross-references: | |||||||
TCGA novel | 177 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.75404198C>T Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404198C>T Locations: - c.529C>T (NCI-TCGA:ENST00000524851) - p.L177F (NCI-TCGA:ENST00000524851) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1802702 | 181 | V>M | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.75404674G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404674G>A Locations: - p.Val181Met (Ensembl:ENST00000527446) - c.541G>A (Ensembl:ENST00000527446) - p.Val181Met (Ensembl:ENST00000524851) - c.541G>A (Ensembl:ENST00000524851) - p.Val181Met (Ensembl:ENST00000531188) - c.541G>A (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1236091952 | 185 | K>M | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75404687A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404687A>T Locations: - p.Lys185Met (Ensembl:ENST00000524851) - c.554A>T (Ensembl:ENST00000524851) - p.Lys185Met (Ensembl:ENST00000527446) - c.554A>T (Ensembl:ENST00000527446) - p.Lys185Met (Ensembl:ENST00000531188) - c.554A>T (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs780760239 | 185 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75404688G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404688G>T Locations: - p.Lys185Asn (Ensembl:ENST00000527446) - c.555G>T (Ensembl:ENST00000527446) - p.Lys185Asn (Ensembl:ENST00000524851) - c.555G>T (Ensembl:ENST00000524851) - p.Lys185Asn (Ensembl:ENST00000531188) - c.555G>T (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1236091952 | 185 | K>R | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000011.10:g.75404687A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404687A>G Locations: - p.Lys185Arg (Ensembl:ENST00000524851) - c.554A>G (Ensembl:ENST00000524851) - p.Lys185Arg (Ensembl:ENST00000531188) - c.554A>G (Ensembl:ENST00000531188) - p.Lys185Arg (Ensembl:ENST00000527446) - c.554A>G (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1592024620 | 189 | M>L | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75404698A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404698A>C Locations: - p.Met189Leu (Ensembl:ENST00000531188) - c.565A>C (Ensembl:ENST00000531188) - p.Met189Leu (Ensembl:ENST00000524851) - c.565A>C (Ensembl:ENST00000524851) - p.Met189Leu (Ensembl:ENST00000527446) - c.565A>C (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
COSV53704522 | 190 | L>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75404701C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75404701C>G Locations: - p.Leu190Val (cosmic curated:ENST00000524851) - c.568C>G (cosmic curated:ENST00000524851) - p.Leu190Val (cosmic curated:ENST00000527446) - c.568C>G (cosmic curated:ENST00000527446) - p.Leu190Val (cosmic curated:ENST00000531188) - c.568C>G (cosmic curated:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1948259838 | 195 | T>A | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000011.10:g.75404716A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404716A>G Locations: - p.Thr195Ala (Ensembl:ENST00000524851) - c.583A>G (Ensembl:ENST00000524851) - p.Thr195Ala (Ensembl:ENST00000527446) - c.583A>G (Ensembl:ENST00000527446) - p.Thr195Ala (Ensembl:ENST00000531188) - c.583A>G (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
COSV107217072 | 195 | T>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75404716A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75404716A>C Locations: - p.Thr195Pro (cosmic curated:ENST00000527446) - c.583A>C (cosmic curated:ENST00000527446) - p.Thr195Pro (cosmic curated:ENST00000524851) - c.583A>C (cosmic curated:ENST00000524851) - p.Thr195Pro (cosmic curated:ENST00000531188) - c.583A>C (cosmic curated:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1948259876 | 195 | T>S | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.82) Somatic: No Accession: NC_000011.10:g.75404717C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404717C>G Locations: - p.Thr195Ser (Ensembl:ENST00000527446) - c.584C>G (Ensembl:ENST00000527446) - p.Thr195Ser (Ensembl:ENST00000524851) - c.584C>G (Ensembl:ENST00000524851) - p.Thr195Ser (Ensembl:ENST00000531188) - c.584C>G (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1592024642 | 196 | G>D | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.75404720G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404720G>A Locations: - p.Gly196Asp (Ensembl:ENST00000527446) - c.587G>A (Ensembl:ENST00000527446) - p.Gly196Asp (Ensembl:ENST00000524851) - c.587G>A (Ensembl:ENST00000524851) - p.Gly196Asp (Ensembl:ENST00000531188) - c.587G>A (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs774988250 | 198 | I>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000011.10:g.75404726T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404726T>G Locations: - p.Ile198Ser (Ensembl:ENST00000531188) - c.593T>G (Ensembl:ENST00000531188) - p.Ile198Ser (Ensembl:ENST00000527446) - c.593T>G (Ensembl:ENST00000527446) - p.Ile198Ser (Ensembl:ENST00000524851) - c.593T>G (Ensembl:ENST00000524851) Source type: large scale study | |||||||
rs774988250 | 198 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000011.10:g.75404726T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404726T>C Locations: - p.Ile198Thr (Ensembl:ENST00000524851) - c.593T>C (Ensembl:ENST00000524851) - p.Ile198Thr (Ensembl:ENST00000531188) - c.593T>C (Ensembl:ENST00000531188) - p.Ile198Thr (Ensembl:ENST00000527446) - c.593T>C (Ensembl:ENST00000527446) Source type: large scale study | |||||||
COSV53704729 | 198 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: Yes Accession: NC_000011.10:g.75404725A>G Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404725A>G Locations: - p.I198V (NCI-TCGA:ENST00000524851) - p.Ile198Val (cosmic curated:ENST00000524851) - c.592A>G (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV99584252 | 199 | G>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000011.10:g.75404729G>C Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404729G>C Locations: - p.G199A (NCI-TCGA:ENST00000524851) - p.Gly199Ala (cosmic curated:ENST00000524851) - c.596G>C (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV99584308 | 199 | G>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75404728G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75404728G>T Locations: - p.Gly199Cys (cosmic curated:ENST00000531188) - c.595G>T (cosmic curated:ENST00000531188) - p.Gly199Cys (cosmic curated:ENST00000527446) - c.595G>T (cosmic curated:ENST00000527446) - p.Gly199Cys (cosmic curated:ENST00000524851) - c.595G>T (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs748676206 | 201 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.75404736G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404736G>C Locations: - p.Lys201Asn (Ensembl:ENST00000527446) - c.603G>C (Ensembl:ENST00000527446) - p.Lys201Asn (Ensembl:ENST00000531188) - c.603G>C (Ensembl:ENST00000531188) - p.Lys201Asn (Ensembl:ENST00000524851) - c.603G>C (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs1948260170 | 203 | P>L | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.75404741C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404741C>T Locations: - p.Pro203Leu (Ensembl:ENST00000531188) - c.608C>T (Ensembl:ENST00000531188) - p.Pro203Leu (Ensembl:ENST00000527446) - c.608C>T (Ensembl:ENST00000527446) - p.Pro203Leu (Ensembl:ENST00000524851) - c.608C>T (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV53705639 | 206 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000011.10:g.75404749G>A Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404749G>A Locations: - p.D206N (NCI-TCGA:ENST00000524851) - p.Asp206Asn (cosmic curated:ENST00000524851) - c.616G>A (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV53704037 | 207 | H>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.36) Somatic: Yes Accession: NC_000011.10:g.75404753A>G Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404753A>G Locations: - p.H207R (NCI-TCGA:ENST00000524851) - p.His207Arg (cosmic curated:ENST00000524851) - c.620A>G (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs1326337008 | 207 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000011.10:g.75404752C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404752C>T Locations: - p.His207Tyr (Ensembl:ENST00000531188) - c.619C>T (Ensembl:ENST00000531188) - p.His207Tyr (Ensembl:ENST00000527446) - c.619C>T (Ensembl:ENST00000527446) - p.His207Tyr (Ensembl:ENST00000524851) - c.619C>T (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs1242865269 | 208 | V>M | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.75404755G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404755G>A Locations: - p.Val208Met (Ensembl:ENST00000524851) - c.622G>A (Ensembl:ENST00000524851) - p.Val208Met (Ensembl:ENST00000527446) - c.622G>A (Ensembl:ENST00000527446) - p.Val208Met (Ensembl:ENST00000531188) - c.622G>A (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
COSV99584310 | 209 | S>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75404759G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75404759G>A Locations: - p.Ser209Asn (cosmic curated:ENST00000531188) - c.626G>A (cosmic curated:ENST00000531188) - p.Ser209Asn (cosmic curated:ENST00000527446) - c.626G>A (cosmic curated:ENST00000527446) - p.Ser209Asn (cosmic curated:ENST00000524851) - c.626G>A (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs1948260470 | 209 | S>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.4) Somatic: No Accession: NC_000011.10:g.75404759G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404759G>C Locations: - p.Ser209Thr (Ensembl:ENST00000531188) - c.626G>C (Ensembl:ENST00000531188) - p.Ser209Thr (Ensembl:ENST00000524851) - c.626G>C (Ensembl:ENST00000524851) - p.Ser209Thr (Ensembl:ENST00000527446) - c.626G>C (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
TCGA novel | 210 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.75404762T>C Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404762T>C Locations: - c.629T>C (NCI-TCGA:ENST00000524851) - p.I210T (NCI-TCGA:ENST00000524851) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1948260617 | 216 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000011.10:g.75404781G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404781G>C Locations: - p.Glu216Asp (Ensembl:ENST00000524851) - c.648G>C (Ensembl:ENST00000524851) - p.Glu216Asp (Ensembl:ENST00000527446) - c.648G>C (Ensembl:ENST00000527446) - p.Glu216Asp (Ensembl:ENST00000531188) - c.648G>C (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs2135057116 | 217 | I>M | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000011.10:g.75404784A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404784A>G Locations: - p.Ile217Met (Ensembl:ENST00000524851) - c.651A>G (Ensembl:ENST00000524851) - p.Ile217Met (Ensembl:ENST00000527446) - c.651A>G (Ensembl:ENST00000527446) - p.Ile217Met (Ensembl:ENST00000531188) - c.651A>G (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs11546223 | 219 | P>A | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000011.10:g.75404788C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404788C>G Locations: - p.Pro219Ala (Ensembl:ENST00000527446) - c.655C>G (Ensembl:ENST00000527446) - p.Pro219Ala (Ensembl:ENST00000524851) - c.655C>G (Ensembl:ENST00000524851) - p.Pro219Ala (Ensembl:ENST00000531188) - c.655C>G (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs11266773 | 220 | T>A | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000011.10:g.75404791A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404791A>G Locations: - p.Thr220Ala (Ensembl:ENST00000524851) - c.658A>G (Ensembl:ENST00000524851) - p.Thr220Ala (Ensembl:ENST00000531188) - c.658A>G (Ensembl:ENST00000531188) - p.Thr220Ala (Ensembl:ENST00000527446) - c.658A>G (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1464846112 | 220 | T>I | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.75404792C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404792C>T Locations: - p.Thr220Ile (Ensembl:ENST00000524851) - c.659C>T (Ensembl:ENST00000524851) - p.Thr220Ile (Ensembl:ENST00000531188) - c.659C>T (Ensembl:ENST00000531188) - p.Thr220Ile (Ensembl:ENST00000527446) - c.659C>T (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs11266773 | 220 | T>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000011.10:g.75404791A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404791A>C Locations: - p.Thr220Pro (Ensembl:ENST00000531188) - c.658A>C (Ensembl:ENST00000531188) - p.Thr220Pro (Ensembl:ENST00000527446) - c.658A>C (Ensembl:ENST00000527446) - p.Thr220Pro (Ensembl:ENST00000524851) - c.658A>C (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs1592024733 | 221 | T>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000011.10:g.75404794A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404794A>C Locations: - p.Thr221Pro (Ensembl:ENST00000531188) - c.661A>C (Ensembl:ENST00000531188) - p.Thr221Pro (Ensembl:ENST00000527446) - c.661A>C (Ensembl:ENST00000527446) - p.Thr221Pro (Ensembl:ENST00000524851) - c.661A>C (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs1481403035 | 223 | I>M | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000011.10:g.75404802C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404802C>G Locations: - p.Ile223Met (Ensembl:ENST00000531188) - c.669C>G (Ensembl:ENST00000531188) - p.Ile223Met (Ensembl:ENST00000524851) - c.669C>G (Ensembl:ENST00000524851) - p.Ile223Met (Ensembl:ENST00000527446) - c.669C>G (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs759369058 | 223 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000011.10:g.75404801T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404801T>C Locations: - p.Ile223Thr (Ensembl:ENST00000527446) - c.668T>C (Ensembl:ENST00000527446) - p.Ile223Thr (Ensembl:ENST00000531188) - c.668T>C (Ensembl:ENST00000531188) - p.Ile223Thr (Ensembl:ENST00000524851) - c.668T>C (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs776757218 | 223 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000011.10:g.75404800A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404800A>G Locations: - p.Ile223Val (Ensembl:ENST00000527446) - c.667A>G (Ensembl:ENST00000527446) - p.Ile223Val (Ensembl:ENST00000531188) - c.667A>G (Ensembl:ENST00000531188) - p.Ile223Val (Ensembl:ENST00000524851) - c.667A>G (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs878935892 | 225 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.75404806G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404806G>C Locations: - p.Glu225Gln (Ensembl:ENST00000524851) - c.673G>C (Ensembl:ENST00000524851) - p.Glu225Gln (Ensembl:ENST00000527446) - c.673G>C (Ensembl:ENST00000527446) - p.Glu225Gln (Ensembl:ENST00000531188) - c.673G>C (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
TCGA novel | 227 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.75404814G>C Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404814G>C Locations: - c.681G>C (NCI-TCGA:ENST00000524851) - p.K227N (NCI-TCGA:ENST00000524851) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1174164337 | 227 | K>Q | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.75404812A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404812A>C Locations: - p.Lys227Gln (Ensembl:ENST00000524851) - c.679A>C (Ensembl:ENST00000524851) - p.Lys227Gln (Ensembl:ENST00000527446) - c.679A>C (Ensembl:ENST00000527446) - p.Lys227Gln (Ensembl:ENST00000531188) - c.679A>C (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs11546195 | 228 | G>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000011.10:g.75404816G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404816G>T Locations: - p.Gly228Val (Ensembl:ENST00000527446) - c.683G>T (Ensembl:ENST00000527446) - p.Gly228Val (Ensembl:ENST00000524851) - c.683G>T (Ensembl:ENST00000524851) - p.Gly228Val (Ensembl:ENST00000531188) - c.683G>T (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs1395895163 | 230 | K>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000011.10:g.75404822A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404822A>G Locations: - p.Lys230Arg (Ensembl:ENST00000531188) - c.689A>G (Ensembl:ENST00000531188) - p.Lys230Arg (Ensembl:ENST00000527446) - c.689A>G (Ensembl:ENST00000527446) - p.Lys230Arg (Ensembl:ENST00000524851) - c.689A>G (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs1193061325 | 231 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.75404824C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404824C>T Locations: - p.Pro231Ser (Ensembl:ENST00000527446) - c.691C>T (Ensembl:ENST00000527446) - p.Pro231Ser (Ensembl:ENST00000524851) - c.691C>T (Ensembl:ENST00000524851) - p.Pro231Ser (Ensembl:ENST00000531188) - c.691C>T (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs73006114 | 233 | P>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000011.10:g.75404831C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404831C>T Locations: - p.Pro233Leu (Ensembl:ENST00000524851) - c.698C>T (Ensembl:ENST00000524851) - p.Pro233Leu (Ensembl:ENST00000531188) - c.698C>T (Ensembl:ENST00000531188) - p.Pro233Leu (Ensembl:ENST00000527446) - c.698C>T (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
COSV99584493 rs73006114 | 233 | P>Q | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.46) Somatic: Yes Accession: NC_000011.10:g.75404831C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404831C>A Locations: - p.Pro233Gln (Ensembl:ENST00000524851) - c.698C>A (Ensembl:ENST00000524851) - p.Pro233Gln (Ensembl:ENST00000531188) - c.698C>A (Ensembl:ENST00000531188) - p.Pro233Gln (Ensembl:ENST00000527446) - c.698C>A (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs73006114 | 233 | P>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000011.10:g.75404831C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404831C>G Locations: - p.Pro233Arg (Ensembl:ENST00000524851) - c.698C>G (Ensembl:ENST00000524851) - p.Pro233Arg (Ensembl:ENST00000531188) - c.698C>G (Ensembl:ENST00000531188) - p.Pro233Arg (Ensembl:ENST00000527446) - c.698C>G (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
COSV104591734 | 234 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75404834C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75404834C>T Locations: - p.Pro234Leu (cosmic curated:ENST00000531188) - c.701C>T (cosmic curated:ENST00000531188) - p.Pro234Leu (cosmic curated:ENST00000527446) - c.701C>T (cosmic curated:ENST00000527446) - p.Pro234Leu (cosmic curated:ENST00000524851) - c.701C>T (cosmic curated:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs1404540682 | 236 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000011.10:g.75404841G>C, NC_000011.10:g.75404841G>A Codon: ATG/ATC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404841G>C, NC_000011.10:g.75404841G>A Locations: - p.Met236Ile (Ensembl:ENST00000531188) - c.708G>C (Ensembl:ENST00000531188) - p.Met236Ile (Ensembl:ENST00000527446) - c.708G>C (Ensembl:ENST00000527446) - p.Met236Ile (Ensembl:ENST00000524851) - c.708G>C (Ensembl:ENST00000524851) - c.708G>A (Ensembl:ENST00000527446) - c.708G>A (Ensembl:ENST00000531188) - c.708G>A (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
COSV53705687 | 236 | M>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75404840T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75404840T>C Locations: - p.Met236Thr (cosmic curated:ENST00000527446) - c.707T>C (cosmic curated:ENST00000527446) - p.Met236Thr (cosmic curated:ENST00000524851) - c.707T>C (cosmic curated:ENST00000524851) - p.Met236Thr (cosmic curated:ENST00000531188) - c.707T>C (cosmic curated:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs780895530 | 236 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000011.10:g.75404839A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404839A>G Locations: - p.Met236Val (Ensembl:ENST00000524851) - c.706A>G (Ensembl:ENST00000524851) - p.Met236Val (Ensembl:ENST00000527446) - c.706A>G (Ensembl:ENST00000527446) - p.Met236Val (Ensembl:ENST00000531188) - c.706A>G (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs374046719 | 237 | P>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000011.10:g.75404842C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404842C>T Locations: - p.Pro237Ser (Ensembl:ENST00000531188) - c.709C>T (Ensembl:ENST00000531188) - p.Pro237Ser (Ensembl:ENST00000527446) - c.709C>T (Ensembl:ENST00000527446) - p.Pro237Ser (Ensembl:ENST00000524851) - c.709C>T (Ensembl:ENST00000524851) Source type: large scale study | |||||||
COSV99584494 rs11546224 | 239 | P>Q | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000011.10:g.75404849C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404849C>A Locations: - p.Pro239Gln (Ensembl:ENST00000527446) - c.716C>A (Ensembl:ENST00000527446) - p.Pro239Gln (Ensembl:ENST00000531188) - c.716C>A (Ensembl:ENST00000531188) - p.Pro239Gln (Ensembl:ENST00000524851) - c.716C>A (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs11546224 | 239 | P>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75404849C>G Codon: CCA/CGA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404849C>G Locations: - p.Pro239Arg (Ensembl:ENST00000527446) - c.716C>G (Ensembl:ENST00000527446) - p.Pro239Arg (Ensembl:ENST00000524851) - c.716C>G (Ensembl:ENST00000524851) - p.Pro239Arg (Ensembl:ENST00000531188) - c.716C>G (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs936723303 | 239 | P>S | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000011.10:g.75404848C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404848C>T Locations: - p.Pro239Ser (Ensembl:ENST00000531188) - c.715C>T (Ensembl:ENST00000531188) - p.Pro239Ser (Ensembl:ENST00000524851) - c.715C>T (Ensembl:ENST00000524851) - p.Pro239Ser (Ensembl:ENST00000527446) - c.715C>T (Ensembl:ENST00000527446) Source type: large scale study Cross-references: | |||||||
TCGA novel | 240 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.75404851G>A Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404851G>A Locations: - c.718G>A (NCI-TCGA:ENST00000524851) - p.V240I (NCI-TCGA:ENST00000524851) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1343457825 | 240 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000011.10:g.75404851G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404851G>C Locations: - p.Val240Leu (Ensembl:ENST00000527446) - c.718G>C (Ensembl:ENST00000527446) - p.Val240Leu (Ensembl:ENST00000524851) - c.718G>C (Ensembl:ENST00000524851) - p.Val240Leu (Ensembl:ENST00000531188) - c.718G>C (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
COSV99584313 | 241 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000011.10:g.75404854C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000011.10:g.75404854C>T Locations: - p.Pro241Ser (cosmic curated:ENST00000524851) - c.721C>T (cosmic curated:ENST00000524851) - p.Pro241Ser (cosmic curated:ENST00000531188) - c.721C>T (cosmic curated:ENST00000531188) - p.Pro241Ser (cosmic curated:ENST00000527446) - c.721C>T (cosmic curated:ENST00000527446) Source type: large scale study Cross-references: | |||||||
rs1303382753 | 242 | T>I | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000011.10:g.75404858C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404858C>T Locations: - p.Thr242Ile (Ensembl:ENST00000524851) - c.725C>T (Ensembl:ENST00000524851) - p.Thr242Ile (Ensembl:ENST00000527446) - c.725C>T (Ensembl:ENST00000527446) - p.Thr242Ile (Ensembl:ENST00000531188) - c.725C>T (Ensembl:ENST00000531188) Source type: large scale study Cross-references: | |||||||
rs779421649 | 243 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000011.10:g.75404860G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404860G>A Locations: - p.Ala243Thr (Ensembl:ENST00000531188) - c.727G>A (Ensembl:ENST00000531188) - p.Ala243Thr (Ensembl:ENST00000527446) - c.727G>A (Ensembl:ENST00000527446) - p.Ala243Thr (Ensembl:ENST00000524851) - c.727G>A (Ensembl:ENST00000524851) Source type: large scale study Cross-references: | |||||||
rs748621426 | 243 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000011.10:g.75404861C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.75404861C>T Locations: - p.Ala243Val (Ensembl:ENST00000524851) - c.728C>T (Ensembl:ENST00000524851) - p.Ala243Val (Ensembl:ENST00000527446) - c.728C>T (Ensembl:ENST00000527446) - p.Ala243Val (Ensembl:ENST00000531188) - c.728C>T (Ensembl:ENST00000531188) Source type: large scale study Cross-references: |