P08962 · CD63_HUMAN
- ProteinCD63 antigen
- GeneCD63
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids238 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV99141839 | 1 | M>? | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.55728339C>A Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728339C>A Locations: - p.M1? (NCI-TCGA:ENST00000257857) - p.Met1? (cosmic curated:ENST00000257857) - c.3G>T (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV57677096 | 2 | A>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55728337G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55728337G>T Locations: - p.Ala2Glu (cosmic curated:ENST00000257857) - c.5C>A (cosmic curated:ENST00000257857) - p.Ala2Glu (cosmic curated:ENST00000420846) - c.5C>A (cosmic curated:ENST00000420846) - p.Ala2Glu (cosmic curated:ENST00000552692) - c.5C>A (cosmic curated:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1877646145 | 2 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.221) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55728338C>A Codon: GCG/TCG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728338C>A Locations: - p.Ala2Ser (Ensembl:ENST00000420846) - c.4G>T (Ensembl:ENST00000420846) - p.Ala2Ser (Ensembl:ENST00000257857) - c.4G>T (Ensembl:ENST00000257857) - p.Ala2Ser (Ensembl:ENST00000552692) - c.4G>T (Ensembl:ENST00000552692) - p.Ala2Ser (Ensembl:ENST00000549117) - c.4G>T (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
COSV57676339 rs778917182 | 3 | V>G | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.55728334A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728334A>C Locations: - p.Val3Gly (Ensembl:ENST00000549117) - c.8T>G (Ensembl:ENST00000549117) - p.Val3Gly (Ensembl:ENST00000420846) - c.8T>G (Ensembl:ENST00000420846) - p.Val3Gly (Ensembl:ENST00000257857) - c.8T>G (Ensembl:ENST00000257857) - p.Val3Gly (Ensembl:ENST00000552692) - c.8T>G (Ensembl:ENST00000552692) Source type: large scale study | |||||||
COSV99067574 rs974788693 | 3 | V>L | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000012.12:g.55728335C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728335C>G Locations: - p.Val3Leu (Ensembl:ENST00000257857) - c.7G>C (Ensembl:ENST00000257857) - p.Val3Leu (Ensembl:ENST00000420846) - c.7G>C (Ensembl:ENST00000420846) - p.Val3Leu (Ensembl:ENST00000552692) - c.7G>C (Ensembl:ENST00000552692) - p.Val3Leu (Ensembl:ENST00000549117) - c.7G>C (Ensembl:ENST00000549117) Source type: large scale study | |||||||
rs754869826 | 4 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55728331T>C Codon: GAA/GGA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728331T>C Locations: - p.Glu4Gly (Ensembl:ENST00000549117) - c.11A>G (Ensembl:ENST00000549117) - p.Glu4Gly (Ensembl:ENST00000420846) - c.11A>G (Ensembl:ENST00000420846) - p.Glu4Gly (Ensembl:ENST00000257857) - c.11A>G (Ensembl:ENST00000257857) - p.Glu4Gly (Ensembl:ENST00000552692) - c.11A>G (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1252668685 | 5 | G>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55728328C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728328C>T Locations: - p.Gly5Glu (Ensembl:ENST00000420846) - c.14G>A (Ensembl:ENST00000420846) - p.Gly5Glu (Ensembl:ENST00000552692) - c.14G>A (Ensembl:ENST00000552692) - p.Gly5Glu (Ensembl:ENST00000549117) - c.14G>A (Ensembl:ENST00000549117) - p.Gly5Glu (Ensembl:ENST00000257857) - c.14G>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV99141906 rs1237573544 | 6 | G>E | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.55728325C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728325C>T Locations: - p.Gly6Glu (Ensembl:ENST00000420846) - c.17G>A (Ensembl:ENST00000420846) - p.Gly6Glu (Ensembl:ENST00000257857) - c.17G>A (Ensembl:ENST00000257857) - p.Gly6Glu (Ensembl:ENST00000549117) - c.17G>A (Ensembl:ENST00000549117) - p.Gly6Glu (Ensembl:ENST00000552692) - c.17G>A (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1877643725 | 6 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.907) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55728326C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728326C>T Locations: - p.Gly6Arg (Ensembl:ENST00000552692) - c.16G>A (Ensembl:ENST00000552692) - p.Gly6Arg (Ensembl:ENST00000420846) - c.16G>A (Ensembl:ENST00000420846) - p.Gly6Arg (Ensembl:ENST00000257857) - c.16G>A (Ensembl:ENST00000257857) - p.Gly6Arg (Ensembl:ENST00000549117) - c.16G>A (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs367734010 | 8 | K>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.354) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55728319T>A Codon: AAA/ATA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728319T>A Locations: - p.Lys8Ile (Ensembl:ENST00000549117) - c.23A>T (Ensembl:ENST00000549117) - p.Lys8Ile (Ensembl:ENST00000552692) - c.23A>T (Ensembl:ENST00000552692) - p.Lys8Ile (Ensembl:ENST00000257857) - c.23A>T (Ensembl:ENST00000257857) - p.Lys8Ile (Ensembl:ENST00000420846) - c.23A>T (Ensembl:ENST00000420846) Source type: large scale study | |||||||
TCGA novel | 8 | K>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000012.12:g.55728320T>G Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728320T>G Locations: - c.22A>C (NCI-TCGA:ENST00000257857) - p.K8Q (NCI-TCGA:ENST00000257857) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs367734010 | 8 | K>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.55728319T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728319T>C Locations: - p.Lys8Arg (Ensembl:ENST00000549117) - c.23A>G (Ensembl:ENST00000549117) - p.Lys8Arg (Ensembl:ENST00000552692) - c.23A>G (Ensembl:ENST00000552692) - p.Lys8Arg (Ensembl:ENST00000420846) - c.23A>G (Ensembl:ENST00000420846) - p.Lys8Arg (Ensembl:ENST00000257857) - c.23A>G (Ensembl:ENST00000257857) Source type: large scale study | |||||||
rs760923351 | 9 | C>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55728317A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728317A>G Locations: - p.Cys9Arg (Ensembl:ENST00000257857) - c.25T>C (Ensembl:ENST00000257857) - p.Cys9Arg (Ensembl:ENST00000420846) - c.25T>C (Ensembl:ENST00000420846) - p.Cys9Arg (Ensembl:ENST00000552692) - c.25T>C (Ensembl:ENST00000552692) - p.Cys9Arg (Ensembl:ENST00000549117) - c.25T>C (Ensembl:ENST00000549117) Source type: large scale study | |||||||
rs1592533767 | 9 | C>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.547) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.55728315A>C Codon: TGT/TGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728315A>C Locations: - p.Cys9Trp (Ensembl:ENST00000420846) - c.27T>G (Ensembl:ENST00000420846) - p.Cys9Trp (Ensembl:ENST00000549117) - c.27T>G (Ensembl:ENST00000549117) - p.Cys9Trp (Ensembl:ENST00000257857) - c.27T>G (Ensembl:ENST00000257857) - p.Cys9Trp (Ensembl:ENST00000552692) - c.27T>G (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1469583867 | 9 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55728316C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728316C>T Locations: - p.Cys9Tyr (Ensembl:ENST00000257857) - c.26G>A (Ensembl:ENST00000257857) - p.Cys9Tyr (Ensembl:ENST00000420846) - c.26G>A (Ensembl:ENST00000420846) - p.Cys9Tyr (Ensembl:ENST00000552692) - c.26G>A (Ensembl:ENST00000552692) - p.Cys9Tyr (Ensembl:ENST00000549117) - c.26G>A (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1228669730 | 10 | V>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55728313A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728313A>T Locations: - p.Val10Glu (Ensembl:ENST00000552692) - c.29T>A (Ensembl:ENST00000552692) - p.Val10Glu (Ensembl:ENST00000420846) - c.29T>A (Ensembl:ENST00000420846) - p.Val10Glu (Ensembl:ENST00000549117) - c.29T>A (Ensembl:ENST00000549117) - p.Val10Glu (Ensembl:ENST00000257857) - c.29T>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs750674037 | 11 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55728310T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728310T>C Locations: - p.Lys11Arg (Ensembl:ENST00000257857) - c.32A>G (Ensembl:ENST00000257857) - p.Lys11Arg (Ensembl:ENST00000420846) - c.32A>G (Ensembl:ENST00000420846) - p.Lys11Arg (Ensembl:ENST00000552692) - c.32A>G (Ensembl:ENST00000552692) - p.Lys11Arg (Ensembl:ENST00000549117) - c.32A>G (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs767678199 | 12 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55728306G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728306G>C Locations: - p.Phe12Leu (Ensembl:ENST00000257857) - c.36C>G (Ensembl:ENST00000257857) - p.Phe12Leu (Ensembl:ENST00000549117) - c.36C>G (Ensembl:ENST00000549117) - p.Phe12Leu (Ensembl:ENST00000552692) - c.36C>G (Ensembl:ENST00000552692) - p.Phe12Leu (Ensembl:ENST00000420846) - c.36C>G (Ensembl:ENST00000420846) Source type: large scale study | |||||||
rs1307300652 | 13 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.796) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55728303C>G Codon: TTG/TTC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728303C>G Locations: - p.Leu13Phe (Ensembl:ENST00000257857) - c.39G>C (Ensembl:ENST00000257857) - p.Leu13Phe (Ensembl:ENST00000549117) - c.39G>C (Ensembl:ENST00000549117) - p.Leu13Phe (Ensembl:ENST00000552692) - c.39G>C (Ensembl:ENST00000552692) - p.Leu13Phe (Ensembl:ENST00000420846) - c.39G>C (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs762177071 | 13 | L>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.801) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55728304A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728304A>G Locations: - p.Leu13Ser (Ensembl:ENST00000549117) - c.38T>C (Ensembl:ENST00000549117) - p.Leu13Ser (Ensembl:ENST00000552692) - c.38T>C (Ensembl:ENST00000552692) - p.Leu13Ser (Ensembl:ENST00000420846) - c.38T>C (Ensembl:ENST00000420846) - p.Leu13Ser (Ensembl:ENST00000257857) - c.38T>C (Ensembl:ENST00000257857) Source type: large scale study | |||||||
COSV104570657 rs1229978386 | 13 | L>V | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.536) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000012.12:g.55728305A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728305A>C Locations: - p.Leu13Val (Ensembl:ENST00000549117) - c.37T>G (Ensembl:ENST00000549117) - p.Leu13Val (Ensembl:ENST00000552692) - c.37T>G (Ensembl:ENST00000552692) - p.Leu13Val (Ensembl:ENST00000420846) - c.37T>G (Ensembl:ENST00000420846) - p.Leu13Val (Ensembl:ENST00000257857) - c.37T>G (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV105820633 | 14 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55728302G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55728302G>T Locations: - p.Leu14Ile (cosmic curated:ENST00000257857) - c.40C>A (cosmic curated:ENST00000257857) - p.Leu14Ile (cosmic curated:ENST00000552692) - c.40C>A (cosmic curated:ENST00000552692) - p.Leu14Ile (cosmic curated:ENST00000420846) - c.40C>A (cosmic curated:ENST00000420846) Source type: large scale study Cross-references: | |||||||
COSV57675996 | 14 | L>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55728301A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55728301A>G Locations: - p.Leu14Pro (cosmic curated:ENST00000257857) - c.41T>C (cosmic curated:ENST00000257857) - p.Leu14Pro (cosmic curated:ENST00000420846) - c.41T>C (cosmic curated:ENST00000420846) - p.Leu14Pro (cosmic curated:ENST00000552692) - c.41T>C (cosmic curated:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs200749647 | 15 | Y>C | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55728298T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728298T>C Locations: - p.Tyr15Cys (Ensembl:ENST00000552692) - c.44A>G (Ensembl:ENST00000552692) - p.Tyr15Cys (Ensembl:ENST00000549117) - c.44A>G (Ensembl:ENST00000549117) - p.Tyr15Cys (Ensembl:ENST00000257857) - c.44A>G (Ensembl:ENST00000257857) - p.Tyr15Cys (Ensembl:ENST00000420846) - c.44A>G (Ensembl:ENST00000420846) Source type: large scale study | |||||||
rs200749647 | 15 | Y>S | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.54) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55728298T>G Codon: TAC/TCC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728298T>G Locations: - p.Tyr15Ser (Ensembl:ENST00000420846) - c.44A>C (Ensembl:ENST00000420846) - p.Tyr15Ser (Ensembl:ENST00000549117) - c.44A>C (Ensembl:ENST00000549117) - p.Tyr15Ser (Ensembl:ENST00000257857) - c.44A>C (Ensembl:ENST00000257857) - p.Tyr15Ser (Ensembl:ENST00000552692) - c.44A>C (Ensembl:ENST00000552692) Source type: large scale study | |||||||
rs1008705242 | 16 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000012.12:g.55728296C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728296C>G Locations: - p.Val16Leu (Ensembl:ENST00000257857) - c.46G>C (Ensembl:ENST00000257857) - p.Val16Leu (Ensembl:ENST00000552692) - c.46G>C (Ensembl:ENST00000552692) - p.Val16Leu (Ensembl:ENST00000549117) - c.46G>C (Ensembl:ENST00000549117) - p.Val16Leu (Ensembl:ENST00000420846) - c.46G>C (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs769265888 | 17 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.55728293G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728293G>A Locations: - p.Leu17Phe (Ensembl:ENST00000549117) - c.49C>T (Ensembl:ENST00000549117) - p.Leu17Phe (Ensembl:ENST00000257857) - c.49C>T (Ensembl:ENST00000257857) - p.Leu17Phe (Ensembl:ENST00000420846) - c.49C>T (Ensembl:ENST00000420846) - p.Leu17Phe (Ensembl:ENST00000552692) - c.49C>T (Ensembl:ENST00000552692) Source type: large scale study | |||||||
rs769265888 | 17 | L>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55728293G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728293G>T Locations: - p.Leu17Ile (Ensembl:ENST00000257857) - c.49C>A (Ensembl:ENST00000257857) - p.Leu17Ile (Ensembl:ENST00000549117) - c.49C>A (Ensembl:ENST00000549117) - p.Leu17Ile (Ensembl:ENST00000420846) - c.49C>A (Ensembl:ENST00000420846) - p.Leu17Ile (Ensembl:ENST00000552692) - c.49C>A (Ensembl:ENST00000552692) Source type: large scale study | |||||||
rs1425903268 | 21 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.55728280A>G Codon: TTT/TCT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55728280A>G Locations: - p.Phe21Ser (Ensembl:ENST00000420846) - c.62T>C (Ensembl:ENST00000420846) - p.Phe21Ser (Ensembl:ENST00000552692) - c.62T>C (Ensembl:ENST00000552692) - p.Phe21Ser (Ensembl:ENST00000549117) - c.62T>C (Ensembl:ENST00000549117) - p.Phe21Ser (Ensembl:ENST00000257857) - c.62T>C (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV107240922 | 22 | C>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55728278A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55728278A>T Locations: - p.Cys22Ser (cosmic curated:ENST00000552692) - c.64T>A (cosmic curated:ENST00000552692) - p.Cys22Ser (cosmic curated:ENST00000257857) - c.64T>A (cosmic curated:ENST00000257857) - p.Cys22Ser (cosmic curated:ENST00000420846) - c.64T>A (cosmic curated:ENST00000420846) Source type: large scale study Cross-references: | |||||||
TCGA novel | 23 | A>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: - Somatic: No Accession: NC_000012.12:g.55727337G>T Consequence type: - Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727337G>T Locations: - c.69C>A (NCI-TCGA:ENST00000257857) - p.A23= (NCI-TCGA:ENST00000257857) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs982762976 | 23 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.8) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55727339C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727339C>G Locations: - p.Ala23Pro (Ensembl:ENST00000549117) - c.67G>C (Ensembl:ENST00000549117) - p.Ala23Pro (Ensembl:ENST00000552692) - c.67G>C (Ensembl:ENST00000552692) - p.Ala23Pro (Ensembl:ENST00000257857) - c.67G>C (Ensembl:ENST00000257857) - p.Ala23Pro (Ensembl:ENST00000420846) - c.67G>C (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs982762976 | 23 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.358) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55727339C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727339C>T Locations: - p.Ala23Thr (Ensembl:ENST00000549117) - c.67G>A (Ensembl:ENST00000549117) - p.Ala23Thr (Ensembl:ENST00000552692) - c.67G>A (Ensembl:ENST00000552692) - p.Ala23Thr (Ensembl:ENST00000420846) - c.67G>A (Ensembl:ENST00000420846) - p.Ala23Thr (Ensembl:ENST00000257857) - c.67G>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1330594260 | 23 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000012.12:g.55727338G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727338G>A Locations: - p.Ala23Val (Ensembl:ENST00000549117) - c.68C>T (Ensembl:ENST00000549117) - p.Ala23Val (Ensembl:ENST00000257857) - c.68C>T (Ensembl:ENST00000257857) - p.Ala23Val (Ensembl:ENST00000552692) - c.68C>T (Ensembl:ENST00000552692) - p.Ala23Val (Ensembl:ENST00000420846) - c.68C>T (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
COSV105856993 | 24 | C>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55727335C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55727335C>G Locations: - p.Cys24Ser (cosmic curated:ENST00000257857) - c.71G>C (cosmic curated:ENST00000257857) - p.Cys24Ser (cosmic curated:ENST00000552692) - c.71G>C (cosmic curated:ENST00000552692) - p.Cys24Ser (cosmic curated:ENST00000420846) - c.71G>C (cosmic curated:ENST00000420846) Source type: large scale study Cross-references: | |||||||
COSV57676933 rs1299540378 | 24 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.55727335C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727335C>T Locations: - p.C24Y (NCI-TCGA:ENST00000549117) - p.C24Y (NCI-TCGA:ENST00000257857) - p.C24Y (NCI-TCGA:ENST00000420846) - p.C24Y (NCI-TCGA:ENST00000552692) - p.Cys24Tyr (Ensembl:ENST00000549117) - c.71G>A (Ensembl:ENST00000549117) - p.Cys24Tyr (Ensembl:ENST00000420846) - c.71G>A (Ensembl:ENST00000420846) - p.Cys24Tyr (Ensembl:ENST00000257857) - c.71G>A (Ensembl:ENST00000257857) - p.Cys24Tyr (Ensembl:ENST00000552692) - c.71G>A (Ensembl:ENST00000552692) Source type: large scale study | |||||||
COSV107240947 | 29 | I>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55727320A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55727320A>T Locations: - p.Ile29Asn (cosmic curated:ENST00000552692) - c.86T>A (cosmic curated:ENST00000552692) - p.Ile29Asn (cosmic curated:ENST00000420846) - c.86T>A (cosmic curated:ENST00000420846) - p.Ile29Asn (cosmic curated:ENST00000257857) - c.86T>A (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs771912345 | 30 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55727317G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727317G>T Locations: - p.Ala30Asp (Ensembl:ENST00000549117) - c.89C>A (Ensembl:ENST00000549117) - p.Ala30Asp (Ensembl:ENST00000257857) - c.89C>A (Ensembl:ENST00000257857) - p.Ala30Asp (Ensembl:ENST00000420846) - c.89C>A (Ensembl:ENST00000420846) - p.Ala30Asp (Ensembl:ENST00000552692) - c.89C>A (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1391516072 | 31 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.196) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000012.12:g.55727314A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727314A>G Locations: - p.Val31Ala (Ensembl:ENST00000420846) - c.92T>C (Ensembl:ENST00000420846) - p.Val31Ala (Ensembl:ENST00000552692) - c.92T>C (Ensembl:ENST00000552692) - p.Val31Ala (Ensembl:ENST00000257857) - c.92T>C (Ensembl:ENST00000257857) - p.Val31Ala (Ensembl:ENST00000549117) - c.92T>C (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs150015050 | 31 | V>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.55727315C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727315C>T Locations: - p.Val31Met (Ensembl:ENST00000552692) - c.91G>A (Ensembl:ENST00000552692) - p.Val31Met (Ensembl:ENST00000257857) - c.91G>A (Ensembl:ENST00000257857) - p.Val31Met (Ensembl:ENST00000420846) - c.91G>A (Ensembl:ENST00000420846) - p.Val31Met (Ensembl:ENST00000549117) - c.91G>A (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs774239613 | 32 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55727312C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727312C>T Locations: - p.Gly32Ser (Ensembl:ENST00000257857) - c.94G>A (Ensembl:ENST00000257857) - p.Gly32Ser (Ensembl:ENST00000420846) - c.94G>A (Ensembl:ENST00000420846) - p.Gly32Ser (Ensembl:ENST00000552692) - c.94G>A (Ensembl:ENST00000552692) - p.Gly32Ser (Ensembl:ENST00000549117) - c.94G>A (Ensembl:ENST00000549117) Source type: large scale study | |||||||
rs1375372631 | 34 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000012.12:g.55727306C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727306C>T Locations: - p.Gly34Arg (Ensembl:ENST00000257857) - c.100G>A (Ensembl:ENST00000257857) - p.Gly34Arg (Ensembl:ENST00000420846) - c.100G>A (Ensembl:ENST00000420846) - p.Gly34Arg (Ensembl:ENST00000552692) - c.100G>A (Ensembl:ENST00000552692) - p.Gly34Arg (Ensembl:ENST00000549117) - c.100G>A (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs749059145 | 35 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000012.12:g.55727303C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727303C>T Locations: - p.Ala35Thr (Ensembl:ENST00000257857) - c.103G>A (Ensembl:ENST00000257857) - p.Ala35Thr (Ensembl:ENST00000420846) - c.103G>A (Ensembl:ENST00000420846) - p.Ala35Thr (Ensembl:ENST00000552692) - c.103G>A (Ensembl:ENST00000552692) - p.Ala35Thr (Ensembl:ENST00000549117) - c.103G>A (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1247206101 | 35 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.55727302G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727302G>A Locations: - p.Ala35Val (Ensembl:ENST00000549117) - c.104C>T (Ensembl:ENST00000549117) - p.Ala35Val (Ensembl:ENST00000420846) - c.104C>T (Ensembl:ENST00000420846) - p.Ala35Val (Ensembl:ENST00000257857) - c.104C>T (Ensembl:ENST00000257857) - p.Ala35Val (Ensembl:ENST00000552692) - c.104C>T (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs112219729 | 36 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.55727299T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727299T>C Locations: - p.Gln36Arg (Ensembl:ENST00000549117) - c.107A>G (Ensembl:ENST00000549117) - p.Gln36Arg (Ensembl:ENST00000552692) - c.107A>G (Ensembl:ENST00000552692) - p.Gln36Arg (Ensembl:ENST00000257857) - c.107A>G (Ensembl:ENST00000257857) - p.Gln36Arg (Ensembl:ENST00000420846) - c.107A>G (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs1466064985 | 37 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.55727296A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727296A>G Locations: - p.Leu37Pro (Ensembl:ENST00000552692) - c.110T>C (Ensembl:ENST00000552692) - p.Leu37Pro (Ensembl:ENST00000549117) - c.110T>C (Ensembl:ENST00000549117) - p.Leu37Pro (Ensembl:ENST00000257857) - c.110T>C (Ensembl:ENST00000257857) - p.Leu37Pro (Ensembl:ENST00000420846) - c.110T>C (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
COSV57677258 | 37 | L>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55727296A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55727296A>C Locations: - p.Leu37Arg (cosmic curated:ENST00000552692) - c.110T>G (cosmic curated:ENST00000552692) - p.Leu37Arg (cosmic curated:ENST00000420846) - c.110T>G (cosmic curated:ENST00000420846) - p.Leu37Arg (cosmic curated:ENST00000257857) - c.110T>G (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs569909052 | 37 | L>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.55727297G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727297G>C Locations: - p.Leu37Val (Ensembl:ENST00000549117) - c.109C>G (Ensembl:ENST00000549117) - p.Leu37Val (Ensembl:ENST00000552692) - c.109C>G (Ensembl:ENST00000552692) - p.Leu37Val (Ensembl:ENST00000420846) - c.109C>G (Ensembl:ENST00000420846) - p.Leu37Val (Ensembl:ENST00000257857) - c.109C>G (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1877513769 | 43 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000012.12:g.55727279T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727279T>C Locations: - p.Ile43Val (Ensembl:ENST00000257857) - c.127A>G (Ensembl:ENST00000257857) - p.Ile43Val (Ensembl:ENST00000420846) - c.127A>G (Ensembl:ENST00000420846) - p.Ile43Val (Ensembl:ENST00000549117) - c.127A>G (Ensembl:ENST00000549117) - p.Ile43Val (Ensembl:ENST00000552692) - c.127A>G (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1156624937 | 44 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.86) Somatic: No Accession: NC_000012.12:g.55727275A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727275A>G Locations: - p.Ile44Thr (Ensembl:ENST00000257857) - c.131T>C (Ensembl:ENST00000257857) - p.Ile44Thr (Ensembl:ENST00000549117) - c.131T>C (Ensembl:ENST00000549117) - p.Ile44Thr (Ensembl:ENST00000552692) - c.131T>C (Ensembl:ENST00000552692) - p.Ile44Thr (Ensembl:ENST00000420846) - c.131T>C (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs755977795 | 45 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000012.12:g.55727271C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727271C>G Locations: - p.Gln45His (Ensembl:ENST00000549117) - c.135G>C (Ensembl:ENST00000549117) - p.Gln45His (Ensembl:ENST00000552692) - c.135G>C (Ensembl:ENST00000552692) - p.Gln45His (Ensembl:ENST00000420846) - c.135G>C (Ensembl:ENST00000420846) - p.Gln45His (Ensembl:ENST00000257857) - c.135G>C (Ensembl:ENST00000257857) Source type: large scale study | |||||||
rs1877513142 | 45 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000012.12:g.55727272T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727272T>C Locations: - p.Gln45Arg (Ensembl:ENST00000549117) - c.134A>G (Ensembl:ENST00000549117) - p.Gln45Arg (Ensembl:ENST00000552692) - c.134A>G (Ensembl:ENST00000552692) - p.Gln45Arg (Ensembl:ENST00000257857) - c.134A>G (Ensembl:ENST00000257857) - p.Gln45Arg (Ensembl:ENST00000420846) - c.134A>G (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
COSV57677328 | 46 | G>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55727270C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55727270C>A Locations: - p.Gly46Trp (cosmic curated:ENST00000420846) - c.136G>T (cosmic curated:ENST00000420846) - p.Gly46Trp (cosmic curated:ENST00000257857) - c.136G>T (cosmic curated:ENST00000257857) - p.Gly46Trp (cosmic curated:ENST00000552692) - c.136G>T (cosmic curated:ENST00000552692) Source type: large scale study Cross-references: | |||||||
COSV57676923 | 47 | A>L | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: frameshift Somatic: Yes Accession: NC_000012.12:g.55727267del Consequence type: frameshift Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727267del Locations: - c.139del (NCI-TCGA:ENST00000257857) - p.A47Lfs*37 (NCI-TCGA:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs144910349 | 47 | A>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000012.12:g.55727267C>G Codon: GCT/CCT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727267C>G Locations: - p.Ala47Pro (Ensembl:ENST00000549117) - c.139G>C (Ensembl:ENST00000549117) - p.Ala47Pro (Ensembl:ENST00000552692) - c.139G>C (Ensembl:ENST00000552692) - p.Ala47Pro (Ensembl:ENST00000420846) - c.139G>C (Ensembl:ENST00000420846) - p.Ala47Pro (Ensembl:ENST00000257857) - c.139G>C (Ensembl:ENST00000257857) Source type: large scale study | |||||||
COSV57676923 rs144910349 | 47 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.48) Somatic: Yes Accession: NC_000012.12:g.55727267C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727267C>T Locations: - p.A47T (NCI-TCGA:ENST00000549117) - p.A47T (NCI-TCGA:ENST00000257857) - p.A47T (NCI-TCGA:ENST00000420846) - p.A47T (NCI-TCGA:ENST00000552692) - p.Ala47Thr (Ensembl:ENST00000549117) - c.139G>A (Ensembl:ENST00000549117) - p.Ala47Thr (Ensembl:ENST00000552692) - c.139G>A (Ensembl:ENST00000552692) - p.Ala47Thr (Ensembl:ENST00000420846) - c.139G>A (Ensembl:ENST00000420846) - p.Ala47Thr (Ensembl:ENST00000257857) - c.139G>A (Ensembl:ENST00000257857) Source type: large scale study | |||||||
rs922843447 | 48 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.55727264T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727264T>C Locations: - p.Thr48Ala (Ensembl:ENST00000549117) - c.142A>G (Ensembl:ENST00000549117) - p.Thr48Ala (Ensembl:ENST00000552692) - c.142A>G (Ensembl:ENST00000552692) - p.Thr48Ala (Ensembl:ENST00000420846) - c.142A>G (Ensembl:ENST00000420846) - p.Thr48Ala (Ensembl:ENST00000257857) - c.142A>G (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1235742611 | 48 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.254) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000012.12:g.55727263G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727263G>A Locations: - p.Thr48Ile (Ensembl:ENST00000552692) - c.143C>T (Ensembl:ENST00000552692) - p.Thr48Ile (Ensembl:ENST00000257857) - c.143C>T (Ensembl:ENST00000257857) - p.Thr48Ile (Ensembl:ENST00000549117) - c.143C>T (Ensembl:ENST00000549117) - p.Thr48Ile (Ensembl:ENST00000420846) - c.143C>T (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
COSV105089682 | 49 | P>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55727260-55727261GG>AA Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55727260-55727261GG>AA Locations: - p.Pro49Phe (cosmic curated:ENST00000552692) - c.145_146delinsTT (cosmic curated:ENST00000552692) - p.Pro49Phe (cosmic curated:ENST00000257857) - c.145_146delinsTT (cosmic curated:ENST00000257857) - p.Pro49Phe (cosmic curated:ENST00000420846) - c.145_146delinsTT (cosmic curated:ENST00000420846) Source type: large scale study Cross-references: | |||||||
COSV105089674 | 49 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55727260G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55727260G>A Locations: - p.Pro49Leu (cosmic curated:ENST00000552692) - c.146C>T (cosmic curated:ENST00000552692) - p.Pro49Leu (cosmic curated:ENST00000420846) - c.146C>T (cosmic curated:ENST00000420846) - p.Pro49Leu (cosmic curated:ENST00000257857) - c.146C>T (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV108039626 rs977334983 | 49 | P>S | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000012.12:g.55727261G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727261G>A Locations: - p.Pro49Ser (Ensembl:ENST00000257857) - c.145C>T (Ensembl:ENST00000257857) - p.Pro49Ser (Ensembl:ENST00000549117) - c.145C>T (Ensembl:ENST00000549117) - p.Pro49Ser (Ensembl:ENST00000552692) - c.145C>T (Ensembl:ENST00000552692) - p.Pro49Ser (Ensembl:ENST00000420846) - c.145C>T (Ensembl:ENST00000420846) Source type: large scale study | |||||||
rs751761251 | 50 | G>A | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.55727257C>G Codon: GGC/GCC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727257C>G Locations: - p.Gly50Ala (Ensembl:ENST00000552692) - c.149G>C (Ensembl:ENST00000552692) - p.Gly50Ala (Ensembl:ENST00000549117) - c.149G>C (Ensembl:ENST00000549117) - p.Gly50Ala (Ensembl:ENST00000420846) - c.149G>C (Ensembl:ENST00000420846) - p.Gly50Ala (Ensembl:ENST00000257857) - c.149G>C (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1392685763 | 50 | G>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.803) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55727258C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727258C>A Locations: - p.Gly50Cys (Ensembl:ENST00000552692) - c.148G>T (Ensembl:ENST00000552692) - p.Gly50Cys (Ensembl:ENST00000420846) - c.148G>T (Ensembl:ENST00000420846) - p.Gly50Cys (Ensembl:ENST00000257857) - c.148G>T (Ensembl:ENST00000257857) - p.Gly50Cys (Ensembl:ENST00000549117) - c.148G>T (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1007732005 | 51 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.899) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55727254G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727254G>C Locations: - p.S51C (NCI-TCGA:ENST00000549117) - p.S51C (NCI-TCGA:ENST00000257857) - p.S51C (NCI-TCGA:ENST00000420846) - p.S51C (NCI-TCGA:ENST00000552692) - p.Ser51Cys (Ensembl:ENST00000549117) - c.152C>G (Ensembl:ENST00000549117) - p.Ser51Cys (Ensembl:ENST00000420846) - c.152C>G (Ensembl:ENST00000420846) - p.Ser51Cys (Ensembl:ENST00000257857) - c.152C>G (Ensembl:ENST00000257857) - p.Ser51Cys (Ensembl:ENST00000552692) - c.152C>G (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1007732005 | 51 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.55727254G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727254G>A Locations: - p.Ser51Phe (Ensembl:ENST00000552692) - c.152C>T (Ensembl:ENST00000552692) - p.Ser51Phe (Ensembl:ENST00000420846) - c.152C>T (Ensembl:ENST00000420846) - p.Ser51Phe (Ensembl:ENST00000549117) - c.152C>T (Ensembl:ENST00000549117) - p.Ser51Phe (Ensembl:ENST00000257857) - c.152C>T (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1441887617 | 53 | L>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.923) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.55727248A>C Codon: TTG/TGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727248A>C Locations: - p.Leu53Trp (Ensembl:ENST00000257857) - c.158T>G (Ensembl:ENST00000257857) - p.Leu53Trp (Ensembl:ENST00000420846) - c.158T>G (Ensembl:ENST00000420846) - p.Leu53Trp (Ensembl:ENST00000552692) - c.158T>G (Ensembl:ENST00000552692) - p.Leu53Trp (Ensembl:ENST00000549117) - c.158T>G (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1877506573 | 54 | P>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55727245G>T Codon: CCA/CAA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727245G>T Locations: - p.Pro54Gln (Ensembl:ENST00000549117) - c.161C>A (Ensembl:ENST00000549117) - p.Pro54Gln (Ensembl:ENST00000552692) - c.161C>A (Ensembl:ENST00000552692) - p.Pro54Gln (Ensembl:ENST00000420846) - c.161C>A (Ensembl:ENST00000420846) - p.Pro54Gln (Ensembl:ENST00000257857) - c.161C>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
TCGA novel | 54 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.55727246G>A Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727246G>A Locations: - c.160C>T (NCI-TCGA:ENST00000257857) - p.P54S (NCI-TCGA:ENST00000257857) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1319568372 | 56 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000012.12:g.55727240C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727240C>T Locations: - p.Val56Ile (Ensembl:ENST00000420846) - c.166G>A (Ensembl:ENST00000420846) - p.Val56Ile (Ensembl:ENST00000552692) - c.166G>A (Ensembl:ENST00000552692) - p.Val56Ile (Ensembl:ENST00000549117) - c.166G>A (Ensembl:ENST00000549117) - p.Val56Ile (Ensembl:ENST00000257857) - c.166G>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1319568372 | 56 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000012.12:g.55727240C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727240C>G Locations: - p.Val56Leu (Ensembl:ENST00000257857) - c.166G>C (Ensembl:ENST00000257857) - p.Val56Leu (Ensembl:ENST00000420846) - c.166G>C (Ensembl:ENST00000420846) - p.Val56Leu (Ensembl:ENST00000552692) - c.166G>C (Ensembl:ENST00000552692) - p.Val56Leu (Ensembl:ENST00000549117) - c.166G>C (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1399473900 | 57 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.485) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55727235G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727235G>C Locations: - p.Ile57Met (Ensembl:ENST00000257857) - c.171C>G (Ensembl:ENST00000257857) - p.Ile57Met (Ensembl:ENST00000420846) - c.171C>G (Ensembl:ENST00000420846) - p.Ile57Met (Ensembl:ENST00000552692) - c.171C>G (Ensembl:ENST00000552692) - p.Ile57Met (Ensembl:ENST00000549117) - c.171C>G (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
COSV57676177 rs753043649 | 59 | A>T | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.697) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000012.12:g.55727231C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727231C>T Locations: - p.Ala59Thr (Ensembl:ENST00000420846) - c.175G>A (Ensembl:ENST00000420846) - p.Ala59Thr (Ensembl:ENST00000552692) - c.175G>A (Ensembl:ENST00000552692) - p.Ala59Thr (Ensembl:ENST00000549117) - c.175G>A (Ensembl:ENST00000549117) - p.Ala59Thr (Ensembl:ENST00000257857) - c.175G>A (Ensembl:ENST00000257857) Source type: large scale study | |||||||
rs1877502164 | 61 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55727224C>G Codon: GGT/GCT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727224C>G Locations: - p.Gly61Ala (Ensembl:ENST00000257857) - c.182G>C (Ensembl:ENST00000257857) - p.Gly61Ala (Ensembl:ENST00000420846) - c.182G>C (Ensembl:ENST00000420846) - p.Gly61Ala (Ensembl:ENST00000552692) - c.182G>C (Ensembl:ENST00000552692) - p.Gly61Ala (Ensembl:ENST00000549117) - c.182G>C (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
COSV57677534 | 62 | V>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55727221A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55727221A>T Locations: - p.Val62Asp (cosmic curated:ENST00000552692) - c.185T>A (cosmic curated:ENST00000552692) - p.Val62Asp (cosmic curated:ENST00000420846) - c.185T>A (cosmic curated:ENST00000420846) - p.Val62Asp (cosmic curated:ENST00000257857) - c.185T>A (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs765914707 | 62 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000012.12:g.55727222C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727222C>T Locations: - p.Val62Ile (Ensembl:ENST00000549117) - c.184G>A (Ensembl:ENST00000549117) - p.Val62Ile (Ensembl:ENST00000552692) - c.184G>A (Ensembl:ENST00000552692) - p.Val62Ile (Ensembl:ENST00000420846) - c.184G>A (Ensembl:ENST00000420846) - p.Val62Ile (Ensembl:ENST00000257857) - c.184G>A (Ensembl:ENST00000257857) Source type: large scale study | |||||||
rs760110777 | 63 | F>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000012.12:g.55727218A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727218A>C Locations: - p.Phe63Cys (Ensembl:ENST00000549117) - c.188T>G (Ensembl:ENST00000549117) - p.Phe63Cys (Ensembl:ENST00000257857) - c.188T>G (Ensembl:ENST00000257857) - p.Phe63Cys (Ensembl:ENST00000420846) - c.188T>G (Ensembl:ENST00000420846) - p.Phe63Cys (Ensembl:ENST00000552692) - c.188T>G (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1877499974 | 64 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55727215A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727215A>G Locations: - p.Leu64Pro (Ensembl:ENST00000420846) - c.191T>C (Ensembl:ENST00000420846) - p.Leu64Pro (Ensembl:ENST00000552692) - c.191T>C (Ensembl:ENST00000552692) - p.Leu64Pro (Ensembl:ENST00000549117) - c.191T>C (Ensembl:ENST00000549117) - p.Leu64Pro (Ensembl:ENST00000257857) - c.191T>C (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1592531622 | 64 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000012.12:g.55727216G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727216G>C Locations: - p.Leu64Val (Ensembl:ENST00000257857) - c.190C>G (Ensembl:ENST00000257857) - p.Leu64Val (Ensembl:ENST00000552692) - c.190C>G (Ensembl:ENST00000552692) - p.Leu64Val (Ensembl:ENST00000549117) - c.190C>G (Ensembl:ENST00000549117) - p.Leu64Val (Ensembl:ENST00000420846) - c.190C>G (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
COSV57676777 | 65 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55727211G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55727211G>C Locations: - p.Phe65Leu (cosmic curated:ENST00000552692) - c.195C>G (cosmic curated:ENST00000552692) - p.Phe65Leu (cosmic curated:ENST00000420846) - c.195C>G (cosmic curated:ENST00000420846) - p.Phe65Leu (cosmic curated:ENST00000257857) - c.195C>G (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1451163284 | 68 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55727204C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727204C>T Locations: - p.Ala68Thr (Ensembl:ENST00000420846) - c.202G>A (Ensembl:ENST00000420846) - p.Ala68Thr (Ensembl:ENST00000552692) - c.202G>A (Ensembl:ENST00000552692) - p.Ala68Thr (Ensembl:ENST00000549117) - c.202G>A (Ensembl:ENST00000549117) - p.Ala68Thr (Ensembl:ENST00000257857) - c.202G>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV99141876 | 69 | F>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55727200A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55727200A>G Locations: - p.Phe69Ser (cosmic curated:ENST00000257857) - c.206T>C (cosmic curated:ENST00000257857) - p.Phe69Ser (cosmic curated:ENST00000420846) - c.206T>C (cosmic curated:ENST00000420846) - p.Phe69Ser (cosmic curated:ENST00000552692) - c.206T>C (cosmic curated:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs761342884 | 70 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.55727198C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727198C>T Locations: - p.Val70Met (Ensembl:ENST00000552692) - c.208G>A (Ensembl:ENST00000552692) - p.Val70Met (Ensembl:ENST00000549117) - c.208G>A (Ensembl:ENST00000549117) - p.Val70Met (Ensembl:ENST00000420846) - c.208G>A (Ensembl:ENST00000420846) - p.Val70Met (Ensembl:ENST00000257857) - c.208G>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV57676913 | 71 | G>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55727195C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55727195C>T Locations: - p.Gly71Ser (cosmic curated:ENST00000257857) - c.211G>A (cosmic curated:ENST00000257857) - p.Gly71Ser (cosmic curated:ENST00000420846) - c.211G>A (cosmic curated:ENST00000420846) - p.Gly71Ser (cosmic curated:ENST00000552692) - c.211G>A (cosmic curated:ENST00000552692) Source type: large scale study Cross-references: | |||||||
COSV57676903 | 72 | C>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55727191C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55727191C>T Locations: - p.Cys72Tyr (cosmic curated:ENST00000257857) - c.215G>A (cosmic curated:ENST00000257857) - p.Cys72Tyr (cosmic curated:ENST00000552692) - c.215G>A (cosmic curated:ENST00000552692) - p.Cys72Tyr (cosmic curated:ENST00000420846) - c.215G>A (cosmic curated:ENST00000420846) Source type: large scale study Cross-references: | |||||||
COSV57677075 rs1486036405 | 74 | G>R | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.55727186C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727186C>T Locations: - p.Gly74Arg (Ensembl:ENST00000549117) - c.220G>A (Ensembl:ENST00000549117) - p.Gly74Arg (Ensembl:ENST00000552692) - c.220G>A (Ensembl:ENST00000552692) - p.Gly74Arg (Ensembl:ENST00000420846) - c.220G>A (Ensembl:ENST00000420846) - p.Gly74Arg (Ensembl:ENST00000257857) - c.220G>A (Ensembl:ENST00000257857) Source type: large scale study | |||||||
rs1486036405 | 74 | G>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55727186C>A Codon: GGG/TGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727186C>A Locations: - p.Gly74Trp (Ensembl:ENST00000420846) - c.220G>T (Ensembl:ENST00000420846) - p.Gly74Trp (Ensembl:ENST00000549117) - c.220G>T (Ensembl:ENST00000549117) - p.Gly74Trp (Ensembl:ENST00000257857) - c.220G>T (Ensembl:ENST00000257857) - p.Gly74Trp (Ensembl:ENST00000552692) - c.220G>T (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
COSV108039632 rs1877494909 | 75 | A>T | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.659) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000012.12:g.55727183C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727183C>T Locations: - p.Ala75Thr (Ensembl:ENST00000552692) - c.223G>A (Ensembl:ENST00000552692) - p.Ala75Thr (Ensembl:ENST00000257857) - c.223G>A (Ensembl:ENST00000257857) - p.Ala75Thr (Ensembl:ENST00000549117) - c.223G>A (Ensembl:ENST00000549117) - p.Ala75Thr (Ensembl:ENST00000420846) - c.223G>A (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
COSV108039630 | 76 | C>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55727179C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55727179C>T Locations: - p.Cys76Tyr (cosmic curated:ENST00000257857) - c.227G>A (cosmic curated:ENST00000257857) - p.Cys76Tyr (cosmic curated:ENST00000420846) - c.227G>A (cosmic curated:ENST00000420846) - p.Cys76Tyr (cosmic curated:ENST00000552692) - c.227G>A (cosmic curated:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1437187673 | 77 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55727177T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727177T>C Locations: - p.Lys77Glu (Ensembl:ENST00000257857) - c.229A>G (Ensembl:ENST00000257857) - p.Lys77Glu (Ensembl:ENST00000549117) - c.229A>G (Ensembl:ENST00000549117) - p.Lys77Glu (Ensembl:ENST00000420846) - c.229A>G (Ensembl:ENST00000420846) - p.Lys77Glu (Ensembl:ENST00000552692) - c.229A>G (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1274258303 | 77 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.885) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55727175C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727175C>G Locations: - p.Lys77Asn (Ensembl:ENST00000257857) - c.231G>C (Ensembl:ENST00000257857) - p.Lys77Asn (Ensembl:ENST00000549117) - c.231G>C (Ensembl:ENST00000549117) - p.Lys77Asn (Ensembl:ENST00000552692) - c.231G>C (Ensembl:ENST00000552692) - p.Lys77Asn (Ensembl:ENST00000420846) - c.231G>C (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs1437187673 | 77 | K>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.75) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.55727177T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727177T>G Locations: - p.Lys77Gln (Ensembl:ENST00000549117) - c.229A>C (Ensembl:ENST00000549117) - p.Lys77Gln (Ensembl:ENST00000257857) - c.229A>C (Ensembl:ENST00000257857) - p.Lys77Gln (Ensembl:ENST00000552692) - c.229A>C (Ensembl:ENST00000552692) - p.Lys77Gln (Ensembl:ENST00000420846) - c.229A>C (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs1179986763 | 77 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.469) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.55727176T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727176T>C Locations: - p.Lys77Arg (Ensembl:ENST00000257857) - c.230A>G (Ensembl:ENST00000257857) - p.Lys77Arg (Ensembl:ENST00000549117) - c.230A>G (Ensembl:ENST00000549117) - p.Lys77Arg (Ensembl:ENST00000420846) - c.230A>G (Ensembl:ENST00000420846) - p.Lys77Arg (Ensembl:ENST00000552692) - c.230A>G (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs762661181 | 78 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.55727172C>A, NC_000012.12:g.55727172C>G Codon: GAG/GAT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727172C>A, NC_000012.12:g.55727172C>G Locations: - p.Glu78Asp (Ensembl:ENST00000549117) - c.234G>T (Ensembl:ENST00000549117) - p.Glu78Asp (Ensembl:ENST00000257857) - c.234G>T (Ensembl:ENST00000257857) - p.Glu78Asp (Ensembl:ENST00000552692) - c.234G>T (Ensembl:ENST00000552692) - p.Glu78Asp (Ensembl:ENST00000420846) - c.234G>T (Ensembl:ENST00000420846) - c.234G>C (Ensembl:ENST00000420846) - c.234G>C (Ensembl:ENST00000549117) - c.234G>C (Ensembl:ENST00000257857) - c.234G>C (Ensembl:ENST00000552692) Source type: large scale study | |||||||
rs1226381678 | 78 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55727174C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727174C>T Locations: - p.Glu78Lys (Ensembl:ENST00000549117) - c.232G>A (Ensembl:ENST00000549117) - p.Glu78Lys (Ensembl:ENST00000552692) - c.232G>A (Ensembl:ENST00000552692) - p.Glu78Lys (Ensembl:ENST00000420846) - c.232G>A (Ensembl:ENST00000420846) - p.Glu78Lys (Ensembl:ENST00000257857) - c.232G>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV57677240 rs536571523 | 80 | Y>C | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000012.12:g.55727167T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727167T>C Locations: - p.Tyr80Cys (Ensembl:ENST00000257857) - c.239A>G (Ensembl:ENST00000257857) - p.Tyr80Cys (Ensembl:ENST00000420846) - c.239A>G (Ensembl:ENST00000420846) - p.Tyr80Cys (Ensembl:ENST00000552692) - c.239A>G (Ensembl:ENST00000552692) - p.Tyr80Cys (Ensembl:ENST00000549117) - c.239A>G (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1009847818 | 82 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55727162G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727162G>A Locations: - p.Leu82Phe (Ensembl:ENST00000420846) - c.244C>T (Ensembl:ENST00000420846) - p.Leu82Phe (Ensembl:ENST00000257857) - c.244C>T (Ensembl:ENST00000257857) - p.Leu82Phe (Ensembl:ENST00000549117) - c.244C>T (Ensembl:ENST00000549117) - p.Leu82Phe (Ensembl:ENST00000552692) - c.244C>T (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1414939691 | 83 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000012.12:g.55727158A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727158A>G Locations: - p.Met83Thr (Ensembl:ENST00000257857) - c.248T>C (Ensembl:ENST00000257857) - p.Met83Thr (Ensembl:ENST00000420846) - c.248T>C (Ensembl:ENST00000420846) - p.Met83Thr (Ensembl:ENST00000552692) - c.248T>C (Ensembl:ENST00000552692) - p.Met83Thr (Ensembl:ENST00000549117) - c.248T>C (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs770938546 | 85 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.622) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55727153T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727153T>C Locations: - p.Thr85Ala (Ensembl:ENST00000549117) - c.253A>G (Ensembl:ENST00000549117) - p.Thr85Ala (Ensembl:ENST00000552692) - c.253A>G (Ensembl:ENST00000552692) - p.Thr85Ala (Ensembl:ENST00000257857) - c.253A>G (Ensembl:ENST00000257857) - p.Thr85Ala (Ensembl:ENST00000420846) - c.253A>G (Ensembl:ENST00000420846) Source type: large scale study | |||||||
rs1168012000 | 85 | T>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55727152G>T Codon: ACG/AAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727152G>T Locations: - p.Thr85Lys (Ensembl:ENST00000257857) - c.254C>A (Ensembl:ENST00000257857) - p.Thr85Lys (Ensembl:ENST00000420846) - c.254C>A (Ensembl:ENST00000420846) - p.Thr85Lys (Ensembl:ENST00000552692) - c.254C>A (Ensembl:ENST00000552692) - p.Thr85Lys (Ensembl:ENST00000549117) - c.254C>A (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1168012000 | 85 | T>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.715) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000012.12:g.55727152G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727152G>A Locations: - p.Thr85Met (Ensembl:ENST00000257857) - c.254C>T (Ensembl:ENST00000257857) - p.Thr85Met (Ensembl:ENST00000420846) - c.254C>T (Ensembl:ENST00000420846) - p.Thr85Met (Ensembl:ENST00000552692) - c.254C>T (Ensembl:ENST00000552692) - p.Thr85Met (Ensembl:ENST00000549117) - c.254C>T (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs770938546 | 85 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.63) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55727153T>A Codon: ACG/TCG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55727153T>A Locations: - p.Thr85Ser (Ensembl:ENST00000549117) - c.253A>T (Ensembl:ENST00000549117) - p.Thr85Ser (Ensembl:ENST00000552692) - c.253A>T (Ensembl:ENST00000552692) - p.Thr85Ser (Ensembl:ENST00000257857) - c.253A>T (Ensembl:ENST00000257857) - p.Thr85Ser (Ensembl:ENST00000420846) - c.253A>T (Ensembl:ENST00000420846) Source type: large scale study | |||||||
TCGA novel | 87 | A>L | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000012.12:g.55726961_55726962insAA Consequence type: frameshift Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726961_55726962insAA Locations: - c.257_258dup (NCI-TCGA:ENST00000257857) - p.A87Lfs*26 (NCI-TCGA:ENST00000257857) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs776564735 | 87 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.472) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000012.12:g.55726960G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726960G>A Locations: - p.Ala87Val (Ensembl:ENST00000420846) - c.260C>T (Ensembl:ENST00000420846) - p.Ala87Val (Ensembl:ENST00000257857) - c.260C>T (Ensembl:ENST00000257857) - p.Ala87Val (Ensembl:ENST00000549117) - c.260C>T (Ensembl:ENST00000549117) - p.Ala87Val (Ensembl:ENST00000552692) - c.260C>T (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs967432248 | 88 | I>F | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.55726958T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726958T>A Locations: - p.Ile88Phe (Ensembl:ENST00000420846) - c.262A>T (Ensembl:ENST00000420846) - p.Ile88Phe (Ensembl:ENST00000549117) - c.262A>T (Ensembl:ENST00000549117) - p.Ile88Phe (Ensembl:ENST00000257857) - c.262A>T (Ensembl:ENST00000257857) - p.Ile88Phe (Ensembl:ENST00000552692) - c.262A>T (Ensembl:ENST00000552692) Source type: large scale study | |||||||
COSV57677036 rs148781286 | 88 | I>M | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.663) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.55726956G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726956G>C Locations: - p.Ile88Met (Ensembl:ENST00000257857) - c.264C>G (Ensembl:ENST00000257857) - p.Ile88Met (Ensembl:ENST00000549117) - c.264C>G (Ensembl:ENST00000549117) - p.Ile88Met (Ensembl:ENST00000552692) - c.264C>G (Ensembl:ENST00000552692) - p.Ile88Met (Ensembl:ENST00000420846) - c.264C>G (Ensembl:ENST00000420846) Source type: large scale study | |||||||
COSV57676106 | 88 | I>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55726957A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55726957A>T Locations: - p.Ile88Asn (cosmic curated:ENST00000420846) - c.263T>A (cosmic curated:ENST00000420846) - p.Ile88Asn (cosmic curated:ENST00000257857) - c.263T>A (cosmic curated:ENST00000257857) - p.Ile88Asn (cosmic curated:ENST00000552692) - c.263T>A (cosmic curated:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs967432248 | 88 | I>V | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.55726958T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726958T>C Locations: - p.Ile88Val (Ensembl:ENST00000549117) - c.262A>G (Ensembl:ENST00000549117) - p.Ile88Val (Ensembl:ENST00000552692) - c.262A>G (Ensembl:ENST00000552692) - p.Ile88Val (Ensembl:ENST00000420846) - c.262A>G (Ensembl:ENST00000420846) - p.Ile88Val (Ensembl:ENST00000257857) - c.262A>G (Ensembl:ENST00000257857) Source type: large scale study | |||||||
TCGA novel | 91 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55726948G>C Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726948G>C Locations: - c.272C>G (NCI-TCGA:ENST00000257857) - p.S91C (NCI-TCGA:ENST00000257857) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1371864741 | 91 | S>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.55726948G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726948G>A Locations: - p.Ser91Phe (Ensembl:ENST00000420846) - c.272C>T (Ensembl:ENST00000420846) - p.Ser91Phe (Ensembl:ENST00000552692) - c.272C>T (Ensembl:ENST00000552692) - p.Ser91Phe (Ensembl:ENST00000257857) - c.272C>T (Ensembl:ENST00000257857) - p.Ser91Phe (Ensembl:ENST00000549117) - c.272C>T (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1592530954 | 91 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.817) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55726949A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726949A>G Locations: - p.Ser91Pro (Ensembl:ENST00000257857) - c.271T>C (Ensembl:ENST00000257857) - p.Ser91Pro (Ensembl:ENST00000420846) - c.271T>C (Ensembl:ENST00000420846) - p.Ser91Pro (Ensembl:ENST00000552692) - c.271T>C (Ensembl:ENST00000552692) - p.Ser91Pro (Ensembl:ENST00000549117) - c.271T>C (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1180165722 | 92 | L>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.411) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000012.12:g.55726946G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726946G>T Locations: - p.Leu92Ile (Ensembl:ENST00000257857) - c.274C>A (Ensembl:ENST00000257857) - p.Leu92Ile (Ensembl:ENST00000420846) - c.274C>A (Ensembl:ENST00000420846) - p.Leu92Ile (Ensembl:ENST00000552692) - c.274C>A (Ensembl:ENST00000552692) - p.Leu92Ile (Ensembl:ENST00000549117) - c.274C>A (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs201460404 | 93 | I>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55726942A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726942A>G Locations: - p.Ile93Thr (Ensembl:ENST00000420846) - c.278T>C (Ensembl:ENST00000420846) - p.Ile93Thr (Ensembl:ENST00000257857) - c.278T>C (Ensembl:ENST00000257857) - p.Ile93Thr (Ensembl:ENST00000549117) - c.278T>C (Ensembl:ENST00000549117) - p.Ile93Thr (Ensembl:ENST00000552692) - c.278T>C (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
TCGA novel | 93 | I>missing | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: inframe deletion Somatic: No Accession: NC_000012.12:g.55726939_55726941del Consequence type: inframe deletion Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726939_55726941del Locations: - c.279_281del (NCI-TCGA:ENST00000257857) - p.I93del (NCI-TCGA:ENST00000257857) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs113373490 | 94 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.55726939A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726939A>G Locations: - p.Met94Thr (Ensembl:ENST00000549117) - c.281T>C (Ensembl:ENST00000549117) - p.Met94Thr (Ensembl:ENST00000420846) - c.281T>C (Ensembl:ENST00000420846) - p.Met94Thr (Ensembl:ENST00000257857) - c.281T>C (Ensembl:ENST00000257857) - p.Met94Thr (Ensembl:ENST00000552692) - c.281T>C (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs990298314 | 94 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000012.12:g.55726940T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726940T>C Locations: - p.Met94Val (Ensembl:ENST00000549117) - c.280A>G (Ensembl:ENST00000549117) - p.Met94Val (Ensembl:ENST00000420846) - c.280A>G (Ensembl:ENST00000420846) - p.Met94Val (Ensembl:ENST00000257857) - c.280A>G (Ensembl:ENST00000257857) - p.Met94Val (Ensembl:ENST00000552692) - c.280A>G (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs772236354 | 95 | L>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.687) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55726936A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726936A>G Locations: - p.Leu95Ser (Ensembl:ENST00000420846) - c.284T>C (Ensembl:ENST00000420846) - p.Leu95Ser (Ensembl:ENST00000552692) - c.284T>C (Ensembl:ENST00000552692) - p.Leu95Ser (Ensembl:ENST00000257857) - c.284T>C (Ensembl:ENST00000257857) - p.Leu95Ser (Ensembl:ENST00000549117) - c.284T>C (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs748345489 | 96 | V>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000012.12:g.55726933A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726933A>G Locations: - p.Val96Ala (Ensembl:ENST00000549117) - c.287T>C (Ensembl:ENST00000549117) - p.Val96Ala (Ensembl:ENST00000552692) - c.287T>C (Ensembl:ENST00000552692) - p.Val96Ala (Ensembl:ENST00000257857) - c.287T>C (Ensembl:ENST00000257857) - p.Val96Ala (Ensembl:ENST00000420846) - c.287T>C (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs1473390070 | 97 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55726930T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726930T>G Locations: - p.Glu97Ala (Ensembl:ENST00000257857) - c.290A>C (Ensembl:ENST00000257857) - p.Glu97Ala (Ensembl:ENST00000420846) - c.290A>C (Ensembl:ENST00000420846) - p.Glu97Ala (Ensembl:ENST00000552692) - c.290A>C (Ensembl:ENST00000552692) - p.Glu97Ala (Ensembl:ENST00000549117) - c.290A>C (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
COSV105089661 | 97 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55726931C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55726931C>T Locations: - p.Glu97Lys (cosmic curated:ENST00000552692) - c.289G>A (cosmic curated:ENST00000552692) - p.Glu97Lys (cosmic curated:ENST00000420846) - c.289G>A (cosmic curated:ENST00000420846) - p.Glu97Lys (cosmic curated:ENST00000257857) - c.289G>A (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1214900368 | 98 | V>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.323) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55726928C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726928C>T Locations: - p.Val98Met (Ensembl:ENST00000549117) - c.292G>A (Ensembl:ENST00000549117) - p.Val98Met (Ensembl:ENST00000420846) - c.292G>A (Ensembl:ENST00000420846) - p.Val98Met (Ensembl:ENST00000257857) - c.292G>A (Ensembl:ENST00000257857) - p.Val98Met (Ensembl:ENST00000552692) - c.292G>A (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs755413075 | 99 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55726925C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726925C>G Locations: - p.Ala99Pro (Ensembl:ENST00000257857) - c.295G>C (Ensembl:ENST00000257857) - p.Ala99Pro (Ensembl:ENST00000420846) - c.295G>C (Ensembl:ENST00000420846) - p.Ala99Pro (Ensembl:ENST00000552692) - c.295G>C (Ensembl:ENST00000552692) - p.Ala99Pro (Ensembl:ENST00000549117) - c.295G>C (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs755413075 | 99 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.789) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.55726925C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726925C>A Locations: - p.Ala99Ser (Ensembl:ENST00000257857) - c.295G>T (Ensembl:ENST00000257857) - p.Ala99Ser (Ensembl:ENST00000420846) - c.295G>T (Ensembl:ENST00000420846) - p.Ala99Ser (Ensembl:ENST00000552692) - c.295G>T (Ensembl:ENST00000552692) - p.Ala99Ser (Ensembl:ENST00000549117) - c.295G>T (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs576524816 | 99 | A>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.767) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.55726924G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726924G>A Locations: - p.Ala99Val (Ensembl:ENST00000552692) - c.296C>T (Ensembl:ENST00000552692) - p.Ala99Val (Ensembl:ENST00000420846) - c.296C>T (Ensembl:ENST00000420846) - p.Ala99Val (Ensembl:ENST00000257857) - c.296C>T (Ensembl:ENST00000257857) - p.Ala99Val (Ensembl:ENST00000549117) - c.296C>T (Ensembl:ENST00000549117) Source type: large scale study | |||||||
COSV57677489 rs756637406 | 100 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.269) - SIFT: tolerated (0.09) Somatic: Yes Population frequencies: - MAF: 0.00002784 (gnomAD) Accession: NC_000012.12:g.55726922C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726922C>T Locations: - p.A100T (NCI-TCGA:ENST00000549117) - p.A100T (NCI-TCGA:ENST00000257857) - p.A100T (NCI-TCGA:ENST00000420846) - p.A100T (NCI-TCGA:ENST00000552692) - p.Ala100Thr (Ensembl:ENST00000257857) - c.298G>A (Ensembl:ENST00000257857) - p.Ala100Thr (Ensembl:ENST00000420846) - c.298G>A (Ensembl:ENST00000420846) - p.Ala100Thr (Ensembl:ENST00000549117) - c.298G>A (Ensembl:ENST00000549117) - p.Ala100Thr (Ensembl:ENST00000552692) - c.298G>A (Ensembl:ENST00000552692) Source type: large scale study | |||||||
COSV99141732 | 100 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000012.12:g.55726921G>A Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726921G>A Locations: - p.A100V (NCI-TCGA:ENST00000257857) - p.Ala100Val (cosmic curated:ENST00000257857) - c.299C>T (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV105089679 | 101 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55726918G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55726918G>A Locations: - p.Ala101Val (cosmic curated:ENST00000420846) - c.302C>T (cosmic curated:ENST00000420846) - p.Ala101Val (cosmic curated:ENST00000257857) - c.302C>T (cosmic curated:ENST00000257857) - p.Ala101Val (cosmic curated:ENST00000552692) - c.302C>T (cosmic curated:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs751088242 | 102 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.26) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000012.12:g.55726916T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726916T>C Locations: - p.Ile102Val (Ensembl:ENST00000257857) - c.304A>G (Ensembl:ENST00000257857) - p.Ile102Val (Ensembl:ENST00000420846) - c.304A>G (Ensembl:ENST00000420846) - p.Ile102Val (Ensembl:ENST00000552692) - c.304A>G (Ensembl:ENST00000552692) - p.Ile102Val (Ensembl:ENST00000549117) - c.304A>G (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1017688965 | 104 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55726909C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726909C>T Locations: - p.Gly104Asp (Ensembl:ENST00000257857) - c.311G>A (Ensembl:ENST00000257857) - p.Gly104Asp (Ensembl:ENST00000420846) - c.311G>A (Ensembl:ENST00000420846) - p.Gly104Asp (Ensembl:ENST00000549117) - c.311G>A (Ensembl:ENST00000549117) - p.Gly104Asp (Ensembl:ENST00000552692) - c.311G>A (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
COSV57676885 rs1433766953 | 104 | G>S | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.55726910C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726910C>T Locations: - p.Gly104Ser (Ensembl:ENST00000257857) - c.310G>A (Ensembl:ENST00000257857) - p.Gly104Ser (Ensembl:ENST00000552692) - c.310G>A (Ensembl:ENST00000552692) - p.Gly104Ser (Ensembl:ENST00000549117) - c.310G>A (Ensembl:ENST00000549117) - p.Gly104Ser (Ensembl:ENST00000420846) - c.310G>A (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs763637330 | 105 | Y>* | ExAC gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000012.12:g.55726905A>C Codon: TAT/TAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726905A>C Locations: - p.Tyr105Ter (Ensembl:ENST00000549117) - c.315T>G (Ensembl:ENST00000549117) - p.Tyr105Ter (Ensembl:ENST00000552692) - c.315T>G (Ensembl:ENST00000552692) - p.Tyr105Ter (Ensembl:ENST00000420846) - c.315T>G (Ensembl:ENST00000420846) - p.Tyr105Ter (Ensembl:ENST00000257857) - c.315T>G (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs11542876 | 107 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000012.12:g.55726901A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726901A>G Locations: - p.Phe107Leu (Ensembl:ENST00000257857) - c.319T>C (Ensembl:ENST00000257857) - p.Phe107Leu (Ensembl:ENST00000420846) - c.319T>C (Ensembl:ENST00000420846) - p.Phe107Leu (Ensembl:ENST00000549117) - c.319T>C (Ensembl:ENST00000549117) - p.Phe107Leu (Ensembl:ENST00000552692) - c.319T>C (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs11542876 | 107 | F>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.222) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55726901A>C Codon: TTT/GTT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726901A>C Locations: - p.Phe107Val (Ensembl:ENST00000257857) - c.319T>G (Ensembl:ENST00000257857) - p.Phe107Val (Ensembl:ENST00000420846) - c.319T>G (Ensembl:ENST00000420846) - p.Phe107Val (Ensembl:ENST00000549117) - c.319T>G (Ensembl:ENST00000549117) - p.Phe107Val (Ensembl:ENST00000552692) - c.319T>G (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1877447279 | 108 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55726898T>C Codon: AGA/GGA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726898T>C Locations: - p.Arg108Gly (Ensembl:ENST00000549117) - c.322A>G (Ensembl:ENST00000549117) - p.Arg108Gly (Ensembl:ENST00000552692) - c.322A>G (Ensembl:ENST00000552692) - p.Arg108Gly (Ensembl:ENST00000420846) - c.322A>G (Ensembl:ENST00000420846) - p.Arg108Gly (Ensembl:ENST00000257857) - c.322A>G (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV57676015 | 108 | R>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55726897C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55726897C>T Locations: - p.Arg108Lys (cosmic curated:ENST00000257857) - c.323G>A (cosmic curated:ENST00000257857) - p.Arg108Lys (cosmic curated:ENST00000420846) - c.323G>A (cosmic curated:ENST00000420846) - p.Arg108Lys (cosmic curated:ENST00000552692) - c.323G>A (cosmic curated:ENST00000552692) Source type: large scale study Cross-references: | |||||||
TCGA novel | 108 | R>L | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000012.12:g.55726898_55726899insAG Consequence type: frameshift Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726898_55726899insAG Locations: - c.321_322insCT (NCI-TCGA:ENST00000257857) - p.R108Lfs*5 (NCI-TCGA:ENST00000257857) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1877446793 | 108 | R>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.621) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55726896T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726896T>A Locations: - p.Arg108Ser (Ensembl:ENST00000420846) - c.324A>T (Ensembl:ENST00000420846) - p.Arg108Ser (Ensembl:ENST00000257857) - c.324A>T (Ensembl:ENST00000257857) - p.Arg108Ser (Ensembl:ENST00000552692) - c.324A>T (Ensembl:ENST00000552692) - p.Arg108Ser (Ensembl:ENST00000549117) - c.324A>T (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
COSV57676015 | 108 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.875) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.55726897C>G Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726897C>G Locations: - c.323G>C (NCI-TCGA:ENST00000257857) - p.R108T (NCI-TCGA:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1232780251 | 109 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000012.12:g.55726893A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726893A>T Locations: - p.Asp109Glu (Ensembl:ENST00000549117) - c.327T>A (Ensembl:ENST00000549117) - p.Asp109Glu (Ensembl:ENST00000552692) - c.327T>A (Ensembl:ENST00000552692) - p.Asp109Glu (Ensembl:ENST00000420846) - c.327T>A (Ensembl:ENST00000420846) - p.Asp109Glu (Ensembl:ENST00000257857) - c.327T>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1265887347 | 109 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000012.12:g.55726894T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726894T>C Locations: - p.Asp109Gly (Ensembl:ENST00000420846) - c.326A>G (Ensembl:ENST00000420846) - p.Asp109Gly (Ensembl:ENST00000549117) - c.326A>G (Ensembl:ENST00000549117) - p.Asp109Gly (Ensembl:ENST00000552692) - c.326A>G (Ensembl:ENST00000552692) - p.Asp109Gly (Ensembl:ENST00000257857) - c.326A>G (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV105856992 | 109 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55726895C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55726895C>T Locations: - p.Asp109Asn (cosmic curated:ENST00000420846) - c.325G>A (cosmic curated:ENST00000420846) - p.Asp109Asn (cosmic curated:ENST00000257857) - c.325G>A (cosmic curated:ENST00000257857) - p.Asp109Asn (cosmic curated:ENST00000552692) - c.325G>A (cosmic curated:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs752369698 | 109 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.929) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55726895C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726895C>A Locations: - p.Asp109Tyr (Ensembl:ENST00000420846) - c.325G>T (Ensembl:ENST00000420846) - p.Asp109Tyr (Ensembl:ENST00000257857) - c.325G>T (Ensembl:ENST00000257857) - p.Asp109Tyr (Ensembl:ENST00000552692) - c.325G>T (Ensembl:ENST00000552692) - p.Asp109Tyr (Ensembl:ENST00000549117) - c.325G>T (Ensembl:ENST00000549117) Source type: large scale study | |||||||
rs1421191769 | 110 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.55726892T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726892T>C Locations: - p.Lys110Glu (Ensembl:ENST00000257857) - c.328A>G (Ensembl:ENST00000257857) - p.Lys110Glu (Ensembl:ENST00000420846) - c.328A>G (Ensembl:ENST00000420846) - p.Lys110Glu (Ensembl:ENST00000552692) - c.328A>G (Ensembl:ENST00000552692) - p.Lys110Glu (Ensembl:ENST00000549117) - c.328A>G (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
COSV57676527 | 111 | V>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55726794A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55726794A>G Locations: - p.Val111Ala (cosmic curated:ENST00000420846) - c.332T>C (cosmic curated:ENST00000420846) - p.Val111Ala (cosmic curated:ENST00000257857) - c.332T>C (cosmic curated:ENST00000257857) - p.Val111Ala (cosmic curated:ENST00000552692) - c.332T>C (cosmic curated:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1397165912 | 111 | V>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55726794A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726794A>C Locations: - p.Val111Gly (Ensembl:ENST00000552692) - c.332T>G (Ensembl:ENST00000552692) - p.Val111Gly (Ensembl:ENST00000549117) - c.332T>G (Ensembl:ENST00000549117) - p.Val111Gly (Ensembl:ENST00000257857) - c.332T>G (Ensembl:ENST00000257857) - p.Val111Gly (Ensembl:ENST00000420846) - c.332T>G (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
COSV105857007 | 112 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55726790C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55726790C>T Locations: - p.Met112Ile (cosmic curated:ENST00000420846) - c.336G>A (cosmic curated:ENST00000420846) - p.Met112Ile (cosmic curated:ENST00000257857) - c.336G>A (cosmic curated:ENST00000257857) - p.Met112Ile (cosmic curated:ENST00000552692) - c.336G>A (cosmic curated:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs144335815 | 112 | M>T | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000012.12:g.55726791A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726791A>G Locations: - p.Met112Thr (Ensembl:ENST00000549117) - c.335T>C (Ensembl:ENST00000549117) - p.Met112Thr (Ensembl:ENST00000257857) - c.335T>C (Ensembl:ENST00000257857) - p.Met112Thr (Ensembl:ENST00000420846) - c.335T>C (Ensembl:ENST00000420846) - p.Met112Thr (Ensembl:ENST00000552692) - c.335T>C (Ensembl:ENST00000552692) Source type: large scale study | |||||||
rs1251514843 | 114 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.187) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000012.12:g.55726786C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726786C>T Locations: - p.Glu114Lys (Ensembl:ENST00000420846) - c.340G>A (Ensembl:ENST00000420846) - p.Glu114Lys (Ensembl:ENST00000552692) - c.340G>A (Ensembl:ENST00000552692) - p.Glu114Lys (Ensembl:ENST00000549117) - c.340G>A (Ensembl:ENST00000549117) - p.Glu114Lys (Ensembl:ENST00000257857) - c.340G>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs536118823 | 116 | N>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000012.12:g.55726779T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726779T>C Locations: - p.Asn116Ser (Ensembl:ENST00000549117) - c.347A>G (Ensembl:ENST00000549117) - p.Asn116Ser (Ensembl:ENST00000552692) - c.347A>G (Ensembl:ENST00000552692) - p.Asn116Ser (Ensembl:ENST00000420846) - c.347A>G (Ensembl:ENST00000420846) - p.Asn116Ser (Ensembl:ENST00000257857) - c.347A>G (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1877431503 | 116 | N>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.446) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55726780T>A Codon: AAT/TAT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726780T>A Locations: - p.Asn116Tyr (Ensembl:ENST00000257857) - c.346A>T (Ensembl:ENST00000257857) - p.Asn116Tyr (Ensembl:ENST00000420846) - c.346A>T (Ensembl:ENST00000420846) - p.Asn116Tyr (Ensembl:ENST00000549117) - c.346A>T (Ensembl:ENST00000549117) - p.Asn116Tyr (Ensembl:ENST00000552692) - c.346A>T (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1396645346 | 117 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55726777T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726777T>G Locations: - p.Asn117His (Ensembl:ENST00000549117) - c.349A>C (Ensembl:ENST00000549117) - p.Asn117His (Ensembl:ENST00000552692) - c.349A>C (Ensembl:ENST00000552692) - p.Asn117His (Ensembl:ENST00000420846) - c.349A>C (Ensembl:ENST00000420846) - p.Asn117His (Ensembl:ENST00000257857) - c.349A>C (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1877429172 | 118 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.55726773T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726773T>C Locations: - p.Asn118Ser (Ensembl:ENST00000552692) - c.353A>G (Ensembl:ENST00000552692) - p.Asn118Ser (Ensembl:ENST00000257857) - c.353A>G (Ensembl:ENST00000257857) - p.Asn118Ser (Ensembl:ENST00000549117) - c.353A>G (Ensembl:ENST00000549117) - p.Asn118Ser (Ensembl:ENST00000420846) - c.353A>G (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs994190722 | 119 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.55726769G>T, NC_000012.12:g.55726769G>C Codon: TTC/TTA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726769G>T, NC_000012.12:g.55726769G>C Locations: - p.Phe119Leu (Ensembl:ENST00000549117) - c.357C>A (Ensembl:ENST00000549117) - p.Phe119Leu (Ensembl:ENST00000552692) - c.357C>A (Ensembl:ENST00000552692) - p.Phe119Leu (Ensembl:ENST00000420846) - c.357C>A (Ensembl:ENST00000420846) - p.Phe119Leu (Ensembl:ENST00000257857) - c.357C>A (Ensembl:ENST00000257857) - c.357C>G (Ensembl:ENST00000552692) - c.357C>G (Ensembl:ENST00000549117) - c.357C>G (Ensembl:ENST00000257857) - c.357C>G (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs1047139929 | 119 | F>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.384) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55726770A>T Codon: TTC/TAC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726770A>T Locations: - p.Phe119Tyr (Ensembl:ENST00000549117) - c.356T>A (Ensembl:ENST00000549117) - p.Phe119Tyr (Ensembl:ENST00000552692) - c.356T>A (Ensembl:ENST00000552692) - p.Phe119Tyr (Ensembl:ENST00000420846) - c.356T>A (Ensembl:ENST00000420846) - p.Phe119Tyr (Ensembl:ENST00000257857) - c.356T>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs201129023 | 120 | R>P | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.241) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000012.12:g.55726767C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726767C>G Locations: - p.Arg120Pro (Ensembl:ENST00000257857) - c.359G>C (Ensembl:ENST00000257857) - p.Arg120Pro (Ensembl:ENST00000420846) - c.359G>C (Ensembl:ENST00000420846) - p.Arg120Pro (Ensembl:ENST00000552692) - c.359G>C (Ensembl:ENST00000552692) - p.Arg120Pro (Ensembl:ENST00000549117) - c.359G>C (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs201129023 | 120 | R>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.96) Somatic: No Accession: NC_000012.12:g.55726767C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726767C>T Locations: - p.Arg120Gln (Ensembl:ENST00000257857) - c.359G>A (Ensembl:ENST00000257857) - p.Arg120Gln (Ensembl:ENST00000420846) - c.359G>A (Ensembl:ENST00000420846) - p.Arg120Gln (Ensembl:ENST00000552692) - c.359G>A (Ensembl:ENST00000552692) - p.Arg120Gln (Ensembl:ENST00000549117) - c.359G>A (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
COSV57675949 rs200393279 | 120 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.769) - SIFT: tolerated (0.27) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000012.12:g.55726768G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726768G>A Locations: - p.R120W (NCI-TCGA:ENST00000549117) - p.R120W (NCI-TCGA:ENST00000257857) - p.R120W (NCI-TCGA:ENST00000420846) - p.R120W (NCI-TCGA:ENST00000552692) - p.Arg120Trp (Ensembl:ENST00000420846) - c.358C>T (Ensembl:ENST00000420846) - p.Arg120Trp (Ensembl:ENST00000552692) - c.358C>T (Ensembl:ENST00000552692) - p.Arg120Trp (Ensembl:ENST00000257857) - c.358C>T (Ensembl:ENST00000257857) - p.Arg120Trp (Ensembl:ENST00000549117) - c.358C>T (Ensembl:ENST00000549117) Source type: large scale study | |||||||
rs2136150189 | 121 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000012.12:g.55726765G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726765G>T Locations: - p.Gln121Lys (Ensembl:ENST00000420846) - c.361C>A (Ensembl:ENST00000420846) - p.Gln121Lys (Ensembl:ENST00000257857) - c.361C>A (Ensembl:ENST00000257857) - p.Gln121Lys (Ensembl:ENST00000552692) - c.361C>A (Ensembl:ENST00000552692) - p.Gln121Lys (Ensembl:ENST00000549117) - c.361C>A (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1339810006 | 122 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000012.12:g.55726761T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726761T>C Locations: - p.Gln122Arg (Ensembl:ENST00000257857) - c.365A>G (Ensembl:ENST00000257857) - p.Gln122Arg (Ensembl:ENST00000420846) - c.365A>G (Ensembl:ENST00000420846) - p.Gln122Arg (Ensembl:ENST00000552692) - c.365A>G (Ensembl:ENST00000552692) - p.Gln122Arg (Ensembl:ENST00000549117) - c.365A>G (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1877426371 | 123 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.827) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55726758A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726758A>G Locations: - p.Met123Thr (Ensembl:ENST00000257857) - c.368T>C (Ensembl:ENST00000257857) - p.Met123Thr (Ensembl:ENST00000420846) - c.368T>C (Ensembl:ENST00000420846) - p.Met123Thr (Ensembl:ENST00000552692) - c.368T>C (Ensembl:ENST00000552692) - p.Met123Thr (Ensembl:ENST00000549117) - c.368T>C (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs749369237 | 124 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000012.12:g.55726754C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726754C>A Locations: - p.Glu124Asp (Ensembl:ENST00000257857) - c.372G>T (Ensembl:ENST00000257857) - p.Glu124Asp (Ensembl:ENST00000420846) - c.372G>T (Ensembl:ENST00000420846) - p.Glu124Asp (Ensembl:ENST00000549117) - c.372G>T (Ensembl:ENST00000549117) - p.Glu124Asp (Ensembl:ENST00000552692) - c.372G>T (Ensembl:ENST00000552692) Source type: large scale study | |||||||
COSV57676040 | 125 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000012.12:g.55726752T>C Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726752T>C Locations: - p.N125S (NCI-TCGA:ENST00000257857) - p.Asn125Ser (cosmic curated:ENST00000257857) - c.374A>G (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs770217582 | 126 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.55726748G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726748G>T Locations: - p.Tyr126Ter (Ensembl:ENST00000420846) - c.378C>A (Ensembl:ENST00000420846) - p.Tyr126Ter (Ensembl:ENST00000257857) - c.378C>A (Ensembl:ENST00000257857) - p.Tyr126Ter (Ensembl:ENST00000549117) - c.378C>A (Ensembl:ENST00000549117) - p.Tyr126Ter (Ensembl:ENST00000552692) - c.378C>A (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs775756823 | 126 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55726750A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726750A>G Locations: - p.Tyr126His (Ensembl:ENST00000257857) - c.376T>C (Ensembl:ENST00000257857) - p.Tyr126His (Ensembl:ENST00000420846) - c.376T>C (Ensembl:ENST00000420846) - p.Tyr126His (Ensembl:ENST00000552692) - c.376T>C (Ensembl:ENST00000552692) - p.Tyr126His (Ensembl:ENST00000549117) - c.376T>C (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs781725798 | 127 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000012.12:g.55726746G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726746G>A Locations: - p.Pro127Leu (Ensembl:ENST00000549117) - c.380C>T (Ensembl:ENST00000549117) - p.Pro127Leu (Ensembl:ENST00000552692) - c.380C>T (Ensembl:ENST00000552692) - p.Pro127Leu (Ensembl:ENST00000420846) - c.380C>T (Ensembl:ENST00000420846) - p.Pro127Leu (Ensembl:ENST00000257857) - c.380C>T (Ensembl:ENST00000257857) Source type: large scale study | |||||||
rs781725798 | 127 | P>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000012.12:g.55726746G>T Codon: CCG/CAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726746G>T Locations: - p.Pro127Gln (Ensembl:ENST00000549117) - c.380C>A (Ensembl:ENST00000549117) - p.Pro127Gln (Ensembl:ENST00000552692) - c.380C>A (Ensembl:ENST00000552692) - p.Pro127Gln (Ensembl:ENST00000420846) - c.380C>A (Ensembl:ENST00000420846) - p.Pro127Gln (Ensembl:ENST00000257857) - c.380C>A (Ensembl:ENST00000257857) Source type: large scale study | |||||||
rs781725798 | 127 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000012.12:g.55726746G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726746G>C Locations: - p.Pro127Arg (Ensembl:ENST00000549117) - c.380C>G (Ensembl:ENST00000549117) - p.Pro127Arg (Ensembl:ENST00000552692) - c.380C>G (Ensembl:ENST00000552692) - p.Pro127Arg (Ensembl:ENST00000420846) - c.380C>G (Ensembl:ENST00000420846) - p.Pro127Arg (Ensembl:ENST00000257857) - c.380C>G (Ensembl:ENST00000257857) Source type: large scale study | |||||||
rs1592530393 | 127 | P>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000012.12:g.55726747G>T Codon: CCG/ACG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726747G>T Locations: - p.Pro127Thr (Ensembl:ENST00000420846) - c.379C>A (Ensembl:ENST00000420846) - p.Pro127Thr (Ensembl:ENST00000257857) - c.379C>A (Ensembl:ENST00000257857) - p.Pro127Thr (Ensembl:ENST00000549117) - c.379C>A (Ensembl:ENST00000549117) - p.Pro127Thr (Ensembl:ENST00000552692) - c.379C>A (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs757758067 | 128 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000012.12:g.55726742T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726742T>G Locations: - p.Lys128Asn (Ensembl:ENST00000552692) - c.384A>C (Ensembl:ENST00000552692) - p.Lys128Asn (Ensembl:ENST00000257857) - c.384A>C (Ensembl:ENST00000257857) - p.Lys128Asn (Ensembl:ENST00000420846) - c.384A>C (Ensembl:ENST00000420846) - p.Lys128Asn (Ensembl:ENST00000549117) - c.384A>C (Ensembl:ENST00000549117) Source type: large scale study | |||||||
rs1377343585 | 129 | N>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000012.12:g.55726740T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726740T>G Locations: - p.Asn129Thr (Ensembl:ENST00000552692) - c.386A>C (Ensembl:ENST00000552692) - p.Asn129Thr (Ensembl:ENST00000420846) - c.386A>C (Ensembl:ENST00000420846) - p.Asn129Thr (Ensembl:ENST00000257857) - c.386A>C (Ensembl:ENST00000257857) - p.Asn129Thr (Ensembl:ENST00000549117) - c.386A>C (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs963741590 | 130 | N>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.254) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000012.12:g.55726738T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726738T>G Locations: - p.Asn130His (Ensembl:ENST00000420846) - c.388A>C (Ensembl:ENST00000420846) - p.Asn130His (Ensembl:ENST00000257857) - c.388A>C (Ensembl:ENST00000257857) - p.Asn130His (Ensembl:ENST00000552692) - c.388A>C (Ensembl:ENST00000552692) - p.Asn130His (Ensembl:ENST00000549117) - c.388A>C (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
COSV99141771 rs778374855 | 131 | H>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.33) Somatic: Yes Population frequencies: - MAF: 0.000003976 (gnomAD) Accession: NC_000012.12:g.55726734T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726734T>C Locations: - p.H131R (NCI-TCGA:ENST00000549117) - p.H131R (NCI-TCGA:ENST00000257857) - p.H131R (NCI-TCGA:ENST00000420846) - p.H131R (NCI-TCGA:ENST00000552692) - p.His131Arg (Ensembl:ENST00000549117) - c.392A>G (Ensembl:ENST00000549117) - p.His131Arg (Ensembl:ENST00000552692) - c.392A>G (Ensembl:ENST00000552692) - p.His131Arg (Ensembl:ENST00000420846) - c.392A>G (Ensembl:ENST00000420846) - p.His131Arg (Ensembl:ENST00000257857) - c.392A>G (Ensembl:ENST00000257857) Source type: large scale study | |||||||
rs1379128460 | 133 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000012.12:g.55726728G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726728G>A Locations: - p.Ala133Val (Ensembl:ENST00000552692) - c.398C>T (Ensembl:ENST00000552692) - p.Ala133Val (Ensembl:ENST00000549117) - c.398C>T (Ensembl:ENST00000549117) - p.Ala133Val (Ensembl:ENST00000257857) - c.398C>T (Ensembl:ENST00000257857) - p.Ala133Val (Ensembl:ENST00000420846) - c.398C>T (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
COSV57676130 rs1482247479 rs1482247479,COSV57676130 | 134 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: Yes Accession: NC_000012.12:g.55726725G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726725G>A Locations: - p.S134L (NCI-TCGA:ENST00000549117) - p.S134L (NCI-TCGA:ENST00000257857) - p.S134L (NCI-TCGA:ENST00000420846) - p.S134L (NCI-TCGA:ENST00000552692) - p.Ser134Leu (Ensembl:ENST00000257857) - c.401C>T (Ensembl:ENST00000257857) - p.Ser134Leu (Ensembl:ENST00000549117) - c.401C>T (Ensembl:ENST00000549117) - p.Ser134Leu (Ensembl:ENST00000552692) - c.401C>T (Ensembl:ENST00000552692) - p.Ser134Leu (Ensembl:ENST00000420846) - c.401C>T (Ensembl:ENST00000420846) Source type: large scale study | |||||||
rs1332319107 | 135 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000012.12:g.55726722A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726722A>G Locations: - p.Ile135Thr (Ensembl:ENST00000420846) - c.404T>C (Ensembl:ENST00000420846) - p.Ile135Thr (Ensembl:ENST00000552692) - c.404T>C (Ensembl:ENST00000552692) - p.Ile135Thr (Ensembl:ENST00000549117) - c.404T>C (Ensembl:ENST00000549117) - p.Ile135Thr (Ensembl:ENST00000257857) - c.404T>C (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs753562138 | 137 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55726716T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726716T>C Locations: - p.Asp137Gly (Ensembl:ENST00000257857) - c.410A>G (Ensembl:ENST00000257857) - p.Asp137Gly (Ensembl:ENST00000420846) - c.410A>G (Ensembl:ENST00000420846) - p.Asp137Gly (Ensembl:ENST00000552692) - c.410A>G (Ensembl:ENST00000552692) - p.Asp137Gly (Ensembl:ENST00000549117) - c.410A>G (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1213501001 | 138 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.55726713C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726713C>T Locations: - p.Arg138Lys (Ensembl:ENST00000420846) - c.413G>A (Ensembl:ENST00000420846) - p.Arg138Lys (Ensembl:ENST00000257857) - c.413G>A (Ensembl:ENST00000257857) - p.Arg138Lys (Ensembl:ENST00000549117) - c.413G>A (Ensembl:ENST00000549117) - p.Arg138Lys (Ensembl:ENST00000552692) - c.413G>A (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1877417438 | 141 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000012.12:g.55726705C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726705C>A Locations: - p.Ala141Ser (Ensembl:ENST00000420846) - c.421G>T (Ensembl:ENST00000420846) - p.Ala141Ser (Ensembl:ENST00000549117) - c.421G>T (Ensembl:ENST00000549117) - p.Ala141Ser (Ensembl:ENST00000552692) - c.421G>T (Ensembl:ENST00000552692) - p.Ala141Ser (Ensembl:ENST00000257857) - c.421G>T (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1877417038 | 141 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.55726704G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726704G>A Locations: - p.Ala141Val (Ensembl:ENST00000552692) - c.422C>T (Ensembl:ENST00000552692) - p.Ala141Val (Ensembl:ENST00000257857) - c.422C>T (Ensembl:ENST00000257857) - p.Ala141Val (Ensembl:ENST00000549117) - c.422C>T (Ensembl:ENST00000549117) - p.Ala141Val (Ensembl:ENST00000420846) - c.422C>T (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs139310010 | 142 | D>N | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000012.12:g.55726702C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726702C>T Locations: - p.Asp142Asn (Ensembl:ENST00000420846) - c.424G>A (Ensembl:ENST00000420846) - p.Asp142Asn (Ensembl:ENST00000257857) - c.424G>A (Ensembl:ENST00000257857) - p.Asp142Asn (Ensembl:ENST00000549117) - c.424G>A (Ensembl:ENST00000549117) - p.Asp142Asn (Ensembl:ENST00000552692) - c.424G>A (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs942652944 | 144 | K>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000012.12:g.55726258T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726258T>G Locations: - p.Lys144Gln (Ensembl:ENST00000552692) - c.430A>C (Ensembl:ENST00000552692) - p.Lys144Gln (Ensembl:ENST00000549117) - c.430A>C (Ensembl:ENST00000549117) - p.Lys144Gln (Ensembl:ENST00000257857) - c.430A>C (Ensembl:ENST00000257857) - p.Lys144Gln (Ensembl:ENST00000420846) - c.430A>C (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs889413183 | 145 | C>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55726254C>G Codon: TGC/TCC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726254C>G Locations: - p.Cys145Ser (Ensembl:ENST00000552692) - c.434G>C (Ensembl:ENST00000552692) - p.Cys145Ser (Ensembl:ENST00000549117) - c.434G>C (Ensembl:ENST00000549117) - p.Cys145Ser (Ensembl:ENST00000257857) - c.434G>C (Ensembl:ENST00000257857) - p.Cys145Ser (Ensembl:ENST00000420846) - c.434G>C (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
COSV57676548 | 147 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55726248C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55726248C>T Locations: - p.Gly147Glu (cosmic curated:ENST00000552692) - c.440G>A (cosmic curated:ENST00000552692) - p.Gly147Glu (cosmic curated:ENST00000257857) - c.440G>A (cosmic curated:ENST00000257857) - p.Gly147Glu (cosmic curated:ENST00000420846) - c.440G>A (cosmic curated:ENST00000420846) Source type: large scale study Cross-references: | |||||||
COSV99141714 | 147 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55726248C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55726248C>A Locations: - p.Gly147Val (cosmic curated:ENST00000257857) - c.440G>T (cosmic curated:ENST00000257857) - p.Gly147Val (cosmic curated:ENST00000552692) - c.440G>T (cosmic curated:ENST00000552692) - p.Gly147Val (cosmic curated:ENST00000420846) - c.440G>T (cosmic curated:ENST00000420846) Source type: large scale study Cross-references: | |||||||
COSV99141713 | 147 | G>W | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55726249C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55726249C>A Locations: - p.Gly147Trp (cosmic curated:ENST00000257857) - c.439G>T (cosmic curated:ENST00000257857) - p.Gly147Trp (cosmic curated:ENST00000552692) - c.439G>T (cosmic curated:ENST00000552692) - p.Gly147Trp (cosmic curated:ENST00000420846) - c.439G>T (cosmic curated:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs1877325187 | 148 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55726246C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726246C>T Locations: - p.Ala148Thr (Ensembl:ENST00000549117) - c.442G>A (Ensembl:ENST00000549117) - p.Ala148Thr (Ensembl:ENST00000552692) - c.442G>A (Ensembl:ENST00000552692) - p.Ala148Thr (Ensembl:ENST00000420846) - c.442G>A (Ensembl:ENST00000420846) - p.Ala148Thr (Ensembl:ENST00000257857) - c.442G>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs11542875 | 148 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000012.12:g.55726245G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726245G>A Locations: - p.Ala148Val (Ensembl:ENST00000257857) - c.443C>T (Ensembl:ENST00000257857) - p.Ala148Val (Ensembl:ENST00000420846) - c.443C>T (Ensembl:ENST00000420846) - p.Ala148Val (Ensembl:ENST00000549117) - c.443C>T (Ensembl:ENST00000549117) - p.Ala148Val (Ensembl:ENST00000552692) - c.443C>T (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1167328183 | 150 | N>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.675) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55726240T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726240T>C Locations: - p.Asn150Asp (Ensembl:ENST00000257857) - c.448A>G (Ensembl:ENST00000257857) - p.Asn150Asp (Ensembl:ENST00000420846) - c.448A>G (Ensembl:ENST00000420846) - p.Asn150Asp (Ensembl:ENST00000552692) - c.448A>G (Ensembl:ENST00000552692) - p.Asn150Asp (Ensembl:ENST00000549117) - c.448A>G (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1367384879 | 150 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.335) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000012.12:g.55726239T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726239T>C Locations: - p.Asn150Ser (Ensembl:ENST00000549117) - c.449A>G (Ensembl:ENST00000549117) - p.Asn150Ser (Ensembl:ENST00000552692) - c.449A>G (Ensembl:ENST00000552692) - p.Asn150Ser (Ensembl:ENST00000420846) - c.449A>G (Ensembl:ENST00000420846) - p.Asn150Ser (Ensembl:ENST00000257857) - c.449A>G (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1367384879 | 150 | N>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55726239T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726239T>G Locations: - p.Asn150Thr (Ensembl:ENST00000549117) - c.449A>C (Ensembl:ENST00000549117) - p.Asn150Thr (Ensembl:ENST00000552692) - c.449A>C (Ensembl:ENST00000552692) - p.Asn150Thr (Ensembl:ENST00000420846) - c.449A>C (Ensembl:ENST00000420846) - p.Asn150Thr (Ensembl:ENST00000257857) - c.449A>C (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs774239722 | 151 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.55726236T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726236T>C Locations: - p.Tyr151Cys (Ensembl:ENST00000257857) - c.452A>G (Ensembl:ENST00000257857) - p.Tyr151Cys (Ensembl:ENST00000420846) - c.452A>G (Ensembl:ENST00000420846) - p.Tyr151Cys (Ensembl:ENST00000552692) - c.452A>G (Ensembl:ENST00000552692) - p.Tyr151Cys (Ensembl:ENST00000549117) - c.452A>G (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1050717888 | 152 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55726233G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726233G>A Locations: - p.Thr152Ile (Ensembl:ENST00000552692) - c.455C>T (Ensembl:ENST00000552692) - p.Thr152Ile (Ensembl:ENST00000549117) - c.455C>T (Ensembl:ENST00000549117) - p.Thr152Ile (Ensembl:ENST00000420846) - c.455C>T (Ensembl:ENST00000420846) - p.Thr152Ile (Ensembl:ENST00000257857) - c.455C>T (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs764066238 | 153 | D>N | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55726231C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726231C>T Locations: - p.Asp153Asn (Ensembl:ENST00000257857) - c.457G>A (Ensembl:ENST00000257857) - p.Asp153Asn (Ensembl:ENST00000552692) - c.457G>A (Ensembl:ENST00000552692) - p.Asp153Asn (Ensembl:ENST00000420846) - c.457G>A (Ensembl:ENST00000420846) - p.Asp153Asn (Ensembl:ENST00000549117) - c.457G>A (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
COSV57675924 | 153 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.55726231C>A Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726231C>A Locations: - p.D153Y (NCI-TCGA:ENST00000257857) - p.Asp153Tyr (cosmic curated:ENST00000257857) - c.457G>T (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV104570659 | 154 | W>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55726226C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55726226C>A Locations: - p.Trp154Cys (cosmic curated:ENST00000257857) - c.462G>T (cosmic curated:ENST00000257857) - p.Trp154Cys (cosmic curated:ENST00000552692) - c.462G>T (cosmic curated:ENST00000552692) - p.Trp154Cys (cosmic curated:ENST00000420846) - c.462G>T (cosmic curated:ENST00000420846) Source type: large scale study Cross-references: | |||||||
COSV99141767 | 156 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000012.12:g.55726220T>G Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726220T>G Locations: - p.K156N (NCI-TCGA:ENST00000257857) - p.Lys156Asn (cosmic curated:ENST00000257857) - c.468A>C (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1877320177 | 156 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000012.12:g.55726221T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726221T>C Locations: - p.Lys156Arg (Ensembl:ENST00000420846) - c.467A>G (Ensembl:ENST00000420846) - p.Lys156Arg (Ensembl:ENST00000257857) - c.467A>G (Ensembl:ENST00000257857) - p.Lys156Arg (Ensembl:ENST00000552692) - c.467A>G (Ensembl:ENST00000552692) - p.Lys156Arg (Ensembl:ENST00000549117) - c.467A>G (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
COSV99141874 | 156 | K>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55726221T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55726221T>G Locations: - p.Lys156Thr (cosmic curated:ENST00000257857) - c.467A>C (cosmic curated:ENST00000257857) - p.Lys156Thr (cosmic curated:ENST00000420846) - c.467A>C (cosmic curated:ENST00000420846) - p.Lys156Thr (cosmic curated:ENST00000552692) - c.467A>C (cosmic curated:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs537109445 | 157 | I>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000012.12:g.55726218A>C Codon: ATC/AGC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726218A>C Locations: - p.Ile157Ser (Ensembl:ENST00000420846) - c.470T>G (Ensembl:ENST00000420846) - p.Ile157Ser (Ensembl:ENST00000552692) - c.470T>G (Ensembl:ENST00000552692) - p.Ile157Ser (Ensembl:ENST00000257857) - c.470T>G (Ensembl:ENST00000257857) - p.Ile157Ser (Ensembl:ENST00000549117) - c.470T>G (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs537109445 | 157 | I>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000012.12:g.55726218A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726218A>G Locations: - p.Ile157Thr (Ensembl:ENST00000420846) - c.470T>C (Ensembl:ENST00000420846) - p.Ile157Thr (Ensembl:ENST00000552692) - c.470T>C (Ensembl:ENST00000552692) - p.Ile157Thr (Ensembl:ENST00000257857) - c.470T>C (Ensembl:ENST00000257857) - p.Ile157Thr (Ensembl:ENST00000549117) - c.470T>C (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1877318351 | 158 | P>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.627) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000012.12:g.55726215G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726215G>T Locations: - p.Pro158His (Ensembl:ENST00000549117) - c.473C>A (Ensembl:ENST00000549117) - p.Pro158His (Ensembl:ENST00000552692) - c.473C>A (Ensembl:ENST00000552692) - p.Pro158His (Ensembl:ENST00000420846) - c.473C>A (Ensembl:ENST00000420846) - p.Pro158His (Ensembl:ENST00000257857) - c.473C>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV57676384 | 158 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.76) Somatic: Yes Accession: NC_000012.12:g.55726216G>A Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726216G>A Locations: - p.P158S (NCI-TCGA:ENST00000257857) - p.Pro158Ser (cosmic curated:ENST00000257857) - c.472C>T (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV57676417 rs1877317847 | 159 | S>Y | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.68) Somatic: Yes Accession: NC_000012.12:g.55726212G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726212G>T Locations: - p.Ser159Tyr (Ensembl:ENST00000257857) - c.476C>A (Ensembl:ENST00000257857) - p.Ser159Tyr (Ensembl:ENST00000420846) - c.476C>A (Ensembl:ENST00000420846) - p.Ser159Tyr (Ensembl:ENST00000552692) - c.476C>A (Ensembl:ENST00000552692) - p.Ser159Tyr (Ensembl:ENST00000549117) - c.476C>A (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1159415658 | 160 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000012.12:g.55726208C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726208C>T Locations: - p.Met160Ile (Ensembl:ENST00000420846) - c.480G>A (Ensembl:ENST00000420846) - p.Met160Ile (Ensembl:ENST00000257857) - c.480G>A (Ensembl:ENST00000257857) - p.Met160Ile (Ensembl:ENST00000552692) - c.480G>A (Ensembl:ENST00000552692) - p.Met160Ile (Ensembl:ENST00000549117) - c.480G>A (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
COSV99141728 | 160 | M>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55726209A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55726209A>G Locations: - p.Met160Thr (cosmic curated:ENST00000257857) - c.479T>C (cosmic curated:ENST00000257857) - p.Met160Thr (cosmic curated:ENST00000420846) - c.479T>C (cosmic curated:ENST00000420846) - p.Met160Thr (cosmic curated:ENST00000552692) - c.479T>C (cosmic curated:ENST00000552692) Source type: large scale study Cross-references: | |||||||
COSV57676569 rs11574657 | 161 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.28) Somatic: Yes Population frequencies: - MAF: 0.00005965 (gnomAD) Accession: NC_000012.12:g.55726206G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726206G>A Locations: - p.S161L (NCI-TCGA:ENST00000549117) - p.S161L (NCI-TCGA:ENST00000257857) - p.S161L (NCI-TCGA:ENST00000420846) - p.S161L (NCI-TCGA:ENST00000552692) - p.Ser161Leu (Ensembl:ENST00000549117) - c.482C>T (Ensembl:ENST00000549117) - p.Ser161Leu (Ensembl:ENST00000552692) - c.482C>T (Ensembl:ENST00000552692) - p.Ser161Leu (Ensembl:ENST00000420846) - c.482C>T (Ensembl:ENST00000420846) - p.Ser161Leu (Ensembl:ENST00000257857) - c.482C>T (Ensembl:ENST00000257857) Source type: large scale study | |||||||
rs11574657 | 161 | S>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.716) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.55726206G>C Codon: TCG/TGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726206G>C Locations: - p.Ser161Trp (Ensembl:ENST00000549117) - c.482C>G (Ensembl:ENST00000549117) - p.Ser161Trp (Ensembl:ENST00000552692) - c.482C>G (Ensembl:ENST00000552692) - p.Ser161Trp (Ensembl:ENST00000420846) - c.482C>G (Ensembl:ENST00000420846) - p.Ser161Trp (Ensembl:ENST00000257857) - c.482C>G (Ensembl:ENST00000257857) Source type: large scale study | |||||||
COSV57676066 | 162 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.16) Somatic: Yes Accession: NC_000012.12:g.55726202C>A Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726202C>A Locations: - p.K162N (NCI-TCGA:ENST00000257857) - p.Lys162Asn (cosmic curated:ENST00000257857) - c.486G>T (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1192640637 | 162 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000012.12:g.55726203T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726203T>C Locations: - p.Lys162Arg (Ensembl:ENST00000552692) - c.485A>G (Ensembl:ENST00000552692) - p.Lys162Arg (Ensembl:ENST00000257857) - c.485A>G (Ensembl:ENST00000257857) - p.Lys162Arg (Ensembl:ENST00000420846) - c.485A>G (Ensembl:ENST00000420846) - p.Lys162Arg (Ensembl:ENST00000549117) - c.485A>G (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
COSV99067572 rs868016024 | 164 | R>* | cosmic curated TOPMed | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55726198G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726198G>A Locations: - p.Arg164Ter (Ensembl:ENST00000257857) - c.490C>T (Ensembl:ENST00000257857) - p.Arg164Ter (Ensembl:ENST00000420846) - c.490C>T (Ensembl:ENST00000420846) - p.Arg164Ter (Ensembl:ENST00000552692) - c.490C>T (Ensembl:ENST00000552692) - p.Arg164Ter (Ensembl:ENST00000549117) - c.490C>T (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs777023084 | 164 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000012.12:g.55726197C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726197C>A Locations: - p.Arg164Leu (Ensembl:ENST00000552692) - c.491G>T (Ensembl:ENST00000552692) - p.Arg164Leu (Ensembl:ENST00000420846) - c.491G>T (Ensembl:ENST00000420846) - p.Arg164Leu (Ensembl:ENST00000257857) - c.491G>T (Ensembl:ENST00000257857) - p.Arg164Leu (Ensembl:ENST00000549117) - c.491G>T (Ensembl:ENST00000549117) Source type: large scale study | |||||||
rs777023084 | 164 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000012.12:g.55726197C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726197C>T Locations: - p.Arg164Gln (Ensembl:ENST00000420846) - c.491G>A (Ensembl:ENST00000420846) - p.Arg164Gln (Ensembl:ENST00000257857) - c.491G>A (Ensembl:ENST00000257857) - p.Arg164Gln (Ensembl:ENST00000549117) - c.491G>A (Ensembl:ENST00000549117) - p.Arg164Gln (Ensembl:ENST00000552692) - c.491G>A (Ensembl:ENST00000552692) Source type: large scale study | |||||||
rs570172603 | 165 | V>A | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55726194A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726194A>G Locations: - p.Val165Ala (Ensembl:ENST00000257857) - c.494T>C (Ensembl:ENST00000257857) - p.Val165Ala (Ensembl:ENST00000549117) - c.494T>C (Ensembl:ENST00000549117) - p.Val165Ala (Ensembl:ENST00000552692) - c.494T>C (Ensembl:ENST00000552692) - p.Val165Ala (Ensembl:ENST00000420846) - c.494T>C (Ensembl:ENST00000420846) Source type: large scale study | |||||||
rs570172603 | 165 | V>D | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55726194A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726194A>T Locations: - p.Val165Asp (Ensembl:ENST00000257857) - c.494T>A (Ensembl:ENST00000257857) - p.Val165Asp (Ensembl:ENST00000549117) - c.494T>A (Ensembl:ENST00000549117) - p.Val165Asp (Ensembl:ENST00000552692) - c.494T>A (Ensembl:ENST00000552692) - p.Val165Asp (Ensembl:ENST00000420846) - c.494T>A (Ensembl:ENST00000420846) Source type: large scale study | |||||||
COSV107240929 | 165 | V>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55726195C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55726195C>T Locations: - p.Val165Ile (cosmic curated:ENST00000420846) - c.493G>A (cosmic curated:ENST00000420846) - p.Val165Ile (cosmic curated:ENST00000552692) - c.493G>A (cosmic curated:ENST00000552692) - p.Val165Ile (cosmic curated:ENST00000257857) - c.493G>A (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV57677002 rs773718478 | 167 | D>N | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000012.12:g.55726189C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726189C>T Locations: - p.Asp167Asn (Ensembl:ENST00000420846) - c.499G>A (Ensembl:ENST00000420846) - p.Asp167Asn (Ensembl:ENST00000552692) - c.499G>A (Ensembl:ENST00000552692) - p.Asp167Asn (Ensembl:ENST00000549117) - c.499G>A (Ensembl:ENST00000549117) - p.Asp167Asn (Ensembl:ENST00000257857) - c.499G>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs2136147868 | 171 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000012.12:g.55726177T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726177T>C Locations: - p.Ile171Val (Ensembl:ENST00000420846) - c.511A>G (Ensembl:ENST00000420846) - p.Ile171Val (Ensembl:ENST00000549117) - c.511A>G (Ensembl:ENST00000549117) - p.Ile171Val (Ensembl:ENST00000257857) - c.511A>G (Ensembl:ENST00000257857) - p.Ile171Val (Ensembl:ENST00000552692) - c.511A>G (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
TCGA novel | 172 | N>K | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000012.12:g.55726172del Consequence type: frameshift Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726172del Locations: - c.516del (NCI-TCGA:ENST00000257857) - p.N172Kfs*28 (NCI-TCGA:ENST00000257857) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1877310884 | 172 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000012.12:g.55726173T>G Codon: AAT/ACT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726173T>G Locations: - p.Asn172Thr (Ensembl:ENST00000420846) - c.515A>C (Ensembl:ENST00000420846) - p.Asn172Thr (Ensembl:ENST00000257857) - c.515A>C (Ensembl:ENST00000257857) - p.Asn172Thr (Ensembl:ENST00000549117) - c.515A>C (Ensembl:ENST00000549117) - p.Asn172Thr (Ensembl:ENST00000552692) - c.515A>C (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1206678222 | 173 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000012.12:g.55726171C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726171C>T Locations: - p.Val173Ile (Ensembl:ENST00000552692) - c.517G>A (Ensembl:ENST00000552692) - p.Val173Ile (Ensembl:ENST00000549117) - c.517G>A (Ensembl:ENST00000549117) - p.Val173Ile (Ensembl:ENST00000420846) - c.517G>A (Ensembl:ENST00000420846) - p.Val173Ile (Ensembl:ENST00000257857) - c.517G>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs779414923 | 175 | V>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000012.12:g.55726164A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726164A>C Locations: - p.Val175Gly (Ensembl:ENST00000420846) - c.524T>G (Ensembl:ENST00000420846) - p.Val175Gly (Ensembl:ENST00000257857) - c.524T>G (Ensembl:ENST00000257857) - p.Val175Gly (Ensembl:ENST00000552692) - c.524T>G (Ensembl:ENST00000552692) - p.Val175Gly (Ensembl:ENST00000549117) - c.524T>G (Ensembl:ENST00000549117) Source type: large scale study | |||||||
rs1209025089 | 177 | C>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55726159A>T Codon: TGT/AGT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726159A>T Locations: - p.Cys177Ser (Ensembl:ENST00000420846) - c.529T>A (Ensembl:ENST00000420846) - p.Cys177Ser (Ensembl:ENST00000549117) - c.529T>A (Ensembl:ENST00000549117) - p.Cys177Ser (Ensembl:ENST00000552692) - c.529T>A (Ensembl:ENST00000552692) - p.Cys177Ser (Ensembl:ENST00000257857) - c.529T>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs766359599 | 177 | C>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55726158C>G Codon: TGT/TCT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726158C>G Locations: - p.Cys177Ser (Ensembl:ENST00000420846) - c.530G>C (Ensembl:ENST00000420846) - p.Cys177Ser (Ensembl:ENST00000549117) - c.530G>C (Ensembl:ENST00000549117) - p.Cys177Ser (Ensembl:ENST00000552692) - c.530G>C (Ensembl:ENST00000552692) - p.Cys177Ser (Ensembl:ENST00000257857) - c.530G>C (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs745476712 | 179 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.106) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000012.12:g.55726151A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726151A>C Locations: - p.Ile179Met (Ensembl:ENST00000420846) - c.537T>G (Ensembl:ENST00000420846) - p.Ile179Met (Ensembl:ENST00000549117) - c.537T>G (Ensembl:ENST00000549117) - p.Ile179Met (Ensembl:ENST00000552692) - c.537T>G (Ensembl:ENST00000552692) - p.Ile179Met (Ensembl:ENST00000257857) - c.537T>G (Ensembl:ENST00000257857) Source type: large scale study | |||||||
rs1237052087 | 182 | N>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.106) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000012.12:g.55726144T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726144T>G Locations: - p.Asn182His (Ensembl:ENST00000257857) - c.544A>C (Ensembl:ENST00000257857) - p.Asn182His (Ensembl:ENST00000420846) - c.544A>C (Ensembl:ENST00000420846) - p.Asn182His (Ensembl:ENST00000549117) - c.544A>C (Ensembl:ENST00000549117) - p.Asn182His (Ensembl:ENST00000552692) - c.544A>C (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs138802238 | 182 | N>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.79) Somatic: No Accession: NC_000012.12:g.55726142G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726142G>C Locations: - p.Asn182Lys (Ensembl:ENST00000552692) - c.546C>G (Ensembl:ENST00000552692) - p.Asn182Lys (Ensembl:ENST00000549117) - c.546C>G (Ensembl:ENST00000549117) - p.Asn182Lys (Ensembl:ENST00000420846) - c.546C>G (Ensembl:ENST00000420846) - p.Asn182Lys (Ensembl:ENST00000257857) - c.546C>G (Ensembl:ENST00000257857) Source type: large scale study | |||||||
rs1320494584 | 183 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.55726141C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726141C>A Locations: - p.Glu183Ter (Ensembl:ENST00000257857) - c.547G>T (Ensembl:ENST00000257857) - p.Glu183Ter (Ensembl:ENST00000552692) - c.547G>T (Ensembl:ENST00000552692) - p.Glu183Ter (Ensembl:ENST00000420846) - c.547G>T (Ensembl:ENST00000420846) - p.Glu183Ter (Ensembl:ENST00000549117) - c.547G>T (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1320494584 | 183 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.95) Somatic: No Accession: NC_000012.12:g.55726141C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726141C>T Locations: - p.Glu183Lys (Ensembl:ENST00000257857) - c.547G>A (Ensembl:ENST00000257857) - p.Glu183Lys (Ensembl:ENST00000420846) - c.547G>A (Ensembl:ENST00000420846) - p.Glu183Lys (Ensembl:ENST00000549117) - c.547G>A (Ensembl:ENST00000549117) - p.Glu183Lys (Ensembl:ENST00000552692) - c.547G>A (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1320494584 | 183 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000012.12:g.55726141C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726141C>G Locations: - p.Glu183Gln (Ensembl:ENST00000552692) - c.547G>C (Ensembl:ENST00000552692) - p.Glu183Gln (Ensembl:ENST00000420846) - c.547G>C (Ensembl:ENST00000420846) - p.Glu183Gln (Ensembl:ENST00000257857) - c.547G>C (Ensembl:ENST00000257857) - p.Glu183Gln (Ensembl:ENST00000549117) - c.547G>C (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs757139236 | 184 | K>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.55726137T>A Codon: AAG/ATG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726137T>A Locations: - p.Lys184Met (Ensembl:ENST00000549117) - c.551A>T (Ensembl:ENST00000549117) - p.Lys184Met (Ensembl:ENST00000257857) - c.551A>T (Ensembl:ENST00000257857) - p.Lys184Met (Ensembl:ENST00000420846) - c.551A>T (Ensembl:ENST00000420846) - p.Lys184Met (Ensembl:ENST00000552692) - c.551A>T (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs746734506 | 185 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000012.12:g.55726134G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726134G>A Locations: - p.Ala185Val (Ensembl:ENST00000420846) - c.554C>T (Ensembl:ENST00000420846) - p.Ala185Val (Ensembl:ENST00000257857) - c.554C>T (Ensembl:ENST00000257857) - p.Ala185Val (Ensembl:ENST00000552692) - c.554C>T (Ensembl:ENST00000552692) - p.Ala185Val (Ensembl:ENST00000549117) - c.554C>T (Ensembl:ENST00000549117) Source type: large scale study | |||||||
rs1355978666 | 187 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.55726128T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726128T>C Locations: - p.His187Arg (Ensembl:ENST00000257857) - c.560A>G (Ensembl:ENST00000257857) - p.His187Arg (Ensembl:ENST00000420846) - c.560A>G (Ensembl:ENST00000420846) - p.His187Arg (Ensembl:ENST00000552692) - c.560A>G (Ensembl:ENST00000552692) - p.His187Arg (Ensembl:ENST00000549117) - c.560A>G (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs758257542 | 188 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000012.12:g.55726126T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726126T>C Locations: - p.Lys188Glu (Ensembl:ENST00000552692) - c.562A>G (Ensembl:ENST00000552692) - p.Lys188Glu (Ensembl:ENST00000549117) - c.562A>G (Ensembl:ENST00000549117) - p.Lys188Glu (Ensembl:ENST00000420846) - c.562A>G (Ensembl:ENST00000420846) - p.Lys188Glu (Ensembl:ENST00000257857) - c.562A>G (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1458996349 | 188 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000012.12:g.55726124C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726124C>A Locations: - p.Lys188Asn (Ensembl:ENST00000257857) - c.564G>T (Ensembl:ENST00000257857) - p.Lys188Asn (Ensembl:ENST00000552692) - c.564G>T (Ensembl:ENST00000552692) - p.Lys188Asn (Ensembl:ENST00000549117) - c.564G>T (Ensembl:ENST00000549117) - p.Lys188Asn (Ensembl:ENST00000420846) - c.564G>T (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs1392949670 | 189 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.325) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.55726122T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55726122T>G Locations: - p.Glu189Ala (Ensembl:ENST00000257857) - c.566A>C (Ensembl:ENST00000257857) - p.Glu189Ala (Ensembl:ENST00000549117) - c.566A>C (Ensembl:ENST00000549117) - p.Glu189Ala (Ensembl:ENST00000552692) - c.566A>C (Ensembl:ENST00000552692) - p.Glu189Ala (Ensembl:ENST00000420846) - c.566A>C (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
COSV105089683 | 189 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55726123C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55726123C>T Locations: - p.Glu189Lys (cosmic curated:ENST00000420846) - c.565G>A (cosmic curated:ENST00000420846) - p.Glu189Lys (cosmic curated:ENST00000257857) - c.565G>A (cosmic curated:ENST00000257857) - p.Glu189Lys (cosmic curated:ENST00000552692) - c.565G>A (cosmic curated:ENST00000552692) Source type: large scale study Cross-references: | |||||||
COSV57676959 | 190 | G>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55725895C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55725895C>T Locations: - p.Gly190Asp (cosmic curated:ENST00000552692) - c.569G>A (cosmic curated:ENST00000552692) - p.Gly190Asp (cosmic curated:ENST00000420846) - c.569G>A (cosmic curated:ENST00000420846) - p.Gly190Asp (cosmic curated:ENST00000257857) - c.569G>A (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV105089680 | 190 | G>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55725896C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55725896C>T Locations: - p.Gly190Ser (cosmic curated:ENST00000552692) - c.568G>A (cosmic curated:ENST00000552692) - p.Gly190Ser (cosmic curated:ENST00000420846) - c.568G>A (cosmic curated:ENST00000420846) - p.Gly190Ser (cosmic curated:ENST00000257857) - c.568G>A (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV57676269 | 193 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55725885C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55725885C>A Locations: - p.Glu193Asp (cosmic curated:ENST00000420846) - c.579G>T (cosmic curated:ENST00000420846) - p.Glu193Asp (cosmic curated:ENST00000257857) - c.579G>T (cosmic curated:ENST00000257857) - p.Glu193Asp (cosmic curated:ENST00000552692) - c.579G>T (cosmic curated:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs370831325 | 195 | I>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.13) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000012.12:g.55725880A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725880A>G Locations: - p.Ile195Thr (Ensembl:ENST00000549117) - c.584T>C (Ensembl:ENST00000549117) - p.Ile195Thr (Ensembl:ENST00000420846) - c.584T>C (Ensembl:ENST00000420846) - p.Ile195Thr (Ensembl:ENST00000552692) - c.584T>C (Ensembl:ENST00000552692) - p.Ile195Thr (Ensembl:ENST00000257857) - c.584T>C (Ensembl:ENST00000257857) Source type: large scale study | |||||||
rs377261058 | 196 | G>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.55725877C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725877C>T Locations: - p.Gly196Glu (Ensembl:ENST00000552692) - c.587G>A (Ensembl:ENST00000552692) - p.Gly196Glu (Ensembl:ENST00000420846) - c.587G>A (Ensembl:ENST00000420846) - p.Gly196Glu (Ensembl:ENST00000257857) - c.587G>A (Ensembl:ENST00000257857) - p.Gly196Glu (Ensembl:ENST00000549117) - c.587G>A (Ensembl:ENST00000549117) Source type: large scale study | |||||||
rs377261058 | 196 | G>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000012.12:g.55725877C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725877C>A Locations: - p.Gly196Val (Ensembl:ENST00000552692) - c.587G>T (Ensembl:ENST00000552692) - p.Gly196Val (Ensembl:ENST00000420846) - c.587G>T (Ensembl:ENST00000420846) - p.Gly196Val (Ensembl:ENST00000257857) - c.587G>T (Ensembl:ENST00000257857) - p.Gly196Val (Ensembl:ENST00000549117) - c.587G>T (Ensembl:ENST00000549117) Source type: large scale study | |||||||
COSV105856991 | 197 | G>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55725874C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55725874C>T Locations: - p.Gly197Asp (cosmic curated:ENST00000552692) - c.590G>A (cosmic curated:ENST00000552692) - p.Gly197Asp (cosmic curated:ENST00000420846) - c.590G>A (cosmic curated:ENST00000420846) - p.Gly197Asp (cosmic curated:ENST00000257857) - c.590G>A (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs776427426 | 198 | W>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55725870C>G Codon: TGG/TGC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725870C>G Locations: - p.Trp198Cys (Ensembl:ENST00000549117) - c.594G>C (Ensembl:ENST00000549117) - p.Trp198Cys (Ensembl:ENST00000552692) - c.594G>C (Ensembl:ENST00000552692) - p.Trp198Cys (Ensembl:ENST00000420846) - c.594G>C (Ensembl:ENST00000420846) - p.Trp198Cys (Ensembl:ENST00000257857) - c.594G>C (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1369742778 | 198 | W>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55725872A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725872A>G Locations: - p.Trp198Arg (Ensembl:ENST00000549117) - c.592T>C (Ensembl:ENST00000549117) - p.Trp198Arg (Ensembl:ENST00000552692) - c.592T>C (Ensembl:ENST00000552692) - p.Trp198Arg (Ensembl:ENST00000420846) - c.592T>C (Ensembl:ENST00000420846) - p.Trp198Arg (Ensembl:ENST00000257857) - c.592T>C (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV57677084 rs2136146809 | 203 | V>M | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000012.12:g.55725857C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725857C>T Locations: - p.Val203Met (Ensembl:ENST00000420846) - c.607G>A (Ensembl:ENST00000420846) - p.Val203Met (Ensembl:ENST00000257857) - c.607G>A (Ensembl:ENST00000257857) - p.Val203Met (Ensembl:ENST00000549117) - c.607G>A (Ensembl:ENST00000549117) - p.Val203Met (Ensembl:ENST00000552692) - c.607G>A (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1484207658 | 204 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.295) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.55725853A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725853A>G Locations: - p.Leu204Pro (Ensembl:ENST00000257857) - c.611T>C (Ensembl:ENST00000257857) - p.Leu204Pro (Ensembl:ENST00000552692) - c.611T>C (Ensembl:ENST00000552692) - p.Leu204Pro (Ensembl:ENST00000420846) - c.611T>C (Ensembl:ENST00000420846) - p.Leu204Pro (Ensembl:ENST00000549117) - c.611T>C (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1877263751 | 206 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000012.12:g.55725848C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725848C>T Locations: - p.Val206Ile (Ensembl:ENST00000257857) - c.616G>A (Ensembl:ENST00000257857) - p.Val206Ile (Ensembl:ENST00000420846) - c.616G>A (Ensembl:ENST00000420846) - p.Val206Ile (Ensembl:ENST00000549117) - c.616G>A (Ensembl:ENST00000549117) - p.Val206Ile (Ensembl:ENST00000552692) - c.616G>A (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
COSV57675903 | 207 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55725844G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55725844G>A Locations: - p.Ala207Val (cosmic curated:ENST00000257857) - c.620C>T (cosmic curated:ENST00000257857) - p.Ala207Val (cosmic curated:ENST00000552692) - c.620C>T (cosmic curated:ENST00000552692) - p.Ala207Val (cosmic curated:ENST00000420846) - c.620C>T (cosmic curated:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs772992496 | 208 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000012.12:g.55725841G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725841G>A Locations: - p.Ala208Val (Ensembl:ENST00000549117) - c.623C>T (Ensembl:ENST00000549117) - p.Ala208Val (Ensembl:ENST00000257857) - c.623C>T (Ensembl:ENST00000257857) - p.Ala208Val (Ensembl:ENST00000420846) - c.623C>T (Ensembl:ENST00000420846) - p.Ala208Val (Ensembl:ENST00000552692) - c.623C>T (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs767257154 | 210 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55725836C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725836C>A Locations: - p.Ala210Ser (Ensembl:ENST00000549117) - c.628G>T (Ensembl:ENST00000549117) - p.Ala210Ser (Ensembl:ENST00000552692) - c.628G>T (Ensembl:ENST00000552692) - p.Ala210Ser (Ensembl:ENST00000257857) - c.628G>T (Ensembl:ENST00000257857) - p.Ala210Ser (Ensembl:ENST00000420846) - c.628G>T (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs767257154 | 210 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.809) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55725836C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725836C>T Locations: - p.Ala210Thr (Ensembl:ENST00000420846) - c.628G>A (Ensembl:ENST00000420846) - p.Ala210Thr (Ensembl:ENST00000549117) - c.628G>A (Ensembl:ENST00000549117) - p.Ala210Thr (Ensembl:ENST00000552692) - c.628G>A (Ensembl:ENST00000552692) - p.Ala210Thr (Ensembl:ENST00000257857) - c.628G>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1474930831 | 211 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55725833G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725833G>A Locations: - p.Leu211Phe (Ensembl:ENST00000552692) - c.631C>T (Ensembl:ENST00000552692) - p.Leu211Phe (Ensembl:ENST00000420846) - c.631C>T (Ensembl:ENST00000420846) - p.Leu211Phe (Ensembl:ENST00000549117) - c.631C>T (Ensembl:ENST00000549117) - p.Leu211Phe (Ensembl:ENST00000257857) - c.631C>T (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1877261358 | 211 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55725832A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725832A>G Locations: - p.Leu211Pro (Ensembl:ENST00000549117) - c.632T>C (Ensembl:ENST00000549117) - p.Leu211Pro (Ensembl:ENST00000420846) - c.632T>C (Ensembl:ENST00000420846) - p.Leu211Pro (Ensembl:ENST00000257857) - c.632T>C (Ensembl:ENST00000257857) - p.Leu211Pro (Ensembl:ENST00000552692) - c.632T>C (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1255412855 | 212 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000012.12:g.55725829C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725829C>T Locations: - p.Gly212Glu (Ensembl:ENST00000549117) - c.635G>A (Ensembl:ENST00000549117) - p.Gly212Glu (Ensembl:ENST00000552692) - c.635G>A (Ensembl:ENST00000552692) - p.Gly212Glu (Ensembl:ENST00000420846) - c.635G>A (Ensembl:ENST00000420846) - p.Gly212Glu (Ensembl:ENST00000257857) - c.635G>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV57676259 | 212 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.393) - SIFT: tolerated (0.3) Somatic: Yes Accession: NC_000012.12:g.55725829C>A Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725829C>A Locations: - p.G212V (NCI-TCGA:ENST00000257857) - p.Gly212Val (cosmic curated:ENST00000257857) - c.635G>T (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs746859414 | 213 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.55725826A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725826A>G Locations: - p.Ile213Thr (Ensembl:ENST00000549117) - c.638T>C (Ensembl:ENST00000549117) - p.Ile213Thr (Ensembl:ENST00000552692) - c.638T>C (Ensembl:ENST00000552692) - p.Ile213Thr (Ensembl:ENST00000420846) - c.638T>C (Ensembl:ENST00000420846) - p.Ile213Thr (Ensembl:ENST00000257857) - c.638T>C (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1422004057 | 214 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.66) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.55725823G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725823G>C Locations: - p.Ala214Gly (Ensembl:ENST00000552692) - c.641C>G (Ensembl:ENST00000552692) - p.Ala214Gly (Ensembl:ENST00000549117) - c.641C>G (Ensembl:ENST00000549117) - p.Ala214Gly (Ensembl:ENST00000420846) - c.641C>G (Ensembl:ENST00000420846) - p.Ala214Gly (Ensembl:ENST00000257857) - c.641C>G (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
COSV107240931 | 215 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000012.12:g.55725819A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000012.12:g.55725819A>C Locations: - p.Phe215Leu (cosmic curated:ENST00000420846) - c.645T>G (cosmic curated:ENST00000420846) - p.Phe215Leu (cosmic curated:ENST00000257857) - c.645T>G (cosmic curated:ENST00000257857) - p.Phe215Leu (cosmic curated:ENST00000552692) - c.645T>G (cosmic curated:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs369562487 | 217 | E>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55725815C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725815C>T Locations: - p.Glu217Lys (Ensembl:ENST00000257857) - c.649G>A (Ensembl:ENST00000257857) - p.Glu217Lys (Ensembl:ENST00000420846) - c.649G>A (Ensembl:ENST00000420846) - p.Glu217Lys (Ensembl:ENST00000552692) - c.649G>A (Ensembl:ENST00000552692) - p.Glu217Lys (Ensembl:ENST00000549117) - c.649G>A (Ensembl:ENST00000549117) Source type: large scale study | |||||||
rs369562487 | 217 | E>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.485) - SIFT: tolerated (0.78) Somatic: No Accession: NC_000012.12:g.55725815C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725815C>G Locations: - p.Glu217Gln (Ensembl:ENST00000257857) - c.649G>C (Ensembl:ENST00000257857) - p.Glu217Gln (Ensembl:ENST00000420846) - c.649G>C (Ensembl:ENST00000420846) - p.Glu217Gln (Ensembl:ENST00000549117) - c.649G>C (Ensembl:ENST00000549117) - p.Glu217Gln (Ensembl:ENST00000552692) - c.649G>C (Ensembl:ENST00000552692) Source type: large scale study | |||||||
rs1003055261 | 218 | V>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.682) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55725625A>C Codon: GTT/GGT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725625A>C Locations: - p.Val218Gly (Ensembl:ENST00000549117) - c.653T>G (Ensembl:ENST00000549117) - p.Val218Gly (Ensembl:ENST00000552692) - c.653T>G (Ensembl:ENST00000552692) - p.Val218Gly (Ensembl:ENST00000257857) - c.653T>G (Ensembl:ENST00000257857) - p.Val218Gly (Ensembl:ENST00000420846) - c.653T>G (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs760920350 | 220 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55725619C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725619C>T Locations: - p.Gly220Glu (Ensembl:ENST00000552692) - c.659G>A (Ensembl:ENST00000552692) - p.Gly220Glu (Ensembl:ENST00000257857) - c.659G>A (Ensembl:ENST00000257857) - p.Gly220Glu (Ensembl:ENST00000549117) - c.659G>A (Ensembl:ENST00000549117) - p.Gly220Glu (Ensembl:ENST00000420846) - c.659G>A (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs1804041 | 221 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.715) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55725616A>G Codon: ATT/ACT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725616A>G Locations: - p.Ile221Thr (Ensembl:ENST00000257857) - c.662T>C (Ensembl:ENST00000257857) - p.Ile221Thr (Ensembl:ENST00000420846) - c.662T>C (Ensembl:ENST00000420846) - p.Ile221Thr (Ensembl:ENST00000552692) - c.662T>C (Ensembl:ENST00000552692) - p.Ile221Thr (Ensembl:ENST00000549117) - c.662T>C (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1336164120 | 221 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.179) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000012.12:g.55725617T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725617T>C Locations: - p.Ile221Val (Ensembl:ENST00000552692) - c.661A>G (Ensembl:ENST00000552692) - p.Ile221Val (Ensembl:ENST00000549117) - c.661A>G (Ensembl:ENST00000549117) - p.Ile221Val (Ensembl:ENST00000257857) - c.661A>G (Ensembl:ENST00000257857) - p.Ile221Val (Ensembl:ENST00000420846) - c.661A>G (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
COSV57676733 rs1438396499 | 222 | V>I | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.63) Somatic: Yes Accession: NC_000012.12:g.55725614C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725614C>T Locations: - p.Val222Ile (Ensembl:ENST00000552692) - c.664G>A (Ensembl:ENST00000552692) - p.Val222Ile (Ensembl:ENST00000257857) - c.664G>A (Ensembl:ENST00000257857) - p.Val222Ile (Ensembl:ENST00000549117) - c.664G>A (Ensembl:ENST00000549117) - p.Val222Ile (Ensembl:ENST00000420846) - c.664G>A (Ensembl:ENST00000420846) Source type: large scale study | |||||||
rs1438396499 | 222 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000012.12:g.55725614C>G Codon: GTC/CTC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725614C>G Locations: - p.Val222Leu (Ensembl:ENST00000420846) - c.664G>C (Ensembl:ENST00000420846) - p.Val222Leu (Ensembl:ENST00000257857) - c.664G>C (Ensembl:ENST00000257857) - p.Val222Leu (Ensembl:ENST00000549117) - c.664G>C (Ensembl:ENST00000549117) - p.Val222Leu (Ensembl:ENST00000552692) - c.664G>C (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1044550456 | 224 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000012.12:g.55725608C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725608C>T Locations: - p.Ala224Thr (Ensembl:ENST00000420846) - c.670G>A (Ensembl:ENST00000420846) - p.Ala224Thr (Ensembl:ENST00000257857) - c.670G>A (Ensembl:ENST00000257857) - p.Ala224Thr (Ensembl:ENST00000552692) - c.670G>A (Ensembl:ENST00000552692) - p.Ala224Thr (Ensembl:ENST00000549117) - c.670G>A (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1396682206 | 224 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55725607G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725607G>A Locations: - p.Ala224Val (Ensembl:ENST00000257857) - c.671C>T (Ensembl:ENST00000257857) - p.Ala224Val (Ensembl:ENST00000420846) - c.671C>T (Ensembl:ENST00000420846) - p.Ala224Val (Ensembl:ENST00000552692) - c.671C>T (Ensembl:ENST00000552692) - p.Ala224Val (Ensembl:ENST00000549117) - c.671C>T (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1565657190 | 225 | C>F | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55725604C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725604C>A Locations: - p.Cys225Phe (Ensembl:ENST00000420846) - c.674G>T (Ensembl:ENST00000420846) - p.Cys225Phe (Ensembl:ENST00000257857) - c.674G>T (Ensembl:ENST00000257857) - p.Cys225Phe (Ensembl:ENST00000552692) - c.674G>T (Ensembl:ENST00000552692) - p.Cys225Phe (Ensembl:ENST00000549117) - c.674G>T (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs1565657190 | 225 | C>Y | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55725604C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725604C>T Locations: - p.Cys225Tyr (Ensembl:ENST00000420846) - c.674G>A (Ensembl:ENST00000420846) - p.Cys225Tyr (Ensembl:ENST00000549117) - c.674G>A (Ensembl:ENST00000549117) - p.Cys225Tyr (Ensembl:ENST00000552692) - c.674G>A (Ensembl:ENST00000552692) - p.Cys225Tyr (Ensembl:ENST00000257857) - c.674G>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs778716543 | 226 | C>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.829) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55725601C>G Codon: TGC/TCC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725601C>G Locations: - p.Cys226Ser (Ensembl:ENST00000552692) - c.677G>C (Ensembl:ENST00000552692) - p.Cys226Ser (Ensembl:ENST00000420846) - c.677G>C (Ensembl:ENST00000420846) - p.Cys226Ser (Ensembl:ENST00000257857) - c.677G>C (Ensembl:ENST00000257857) - p.Cys226Ser (Ensembl:ENST00000549117) - c.677G>C (Ensembl:ENST00000549117) Source type: large scale study | |||||||
rs1436443448 | 226 | C>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.768) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55725600G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725600G>C Locations: - p.Cys226Trp (Ensembl:ENST00000552692) - c.678C>G (Ensembl:ENST00000552692) - p.Cys226Trp (Ensembl:ENST00000420846) - c.678C>G (Ensembl:ENST00000420846) - p.Cys226Trp (Ensembl:ENST00000257857) - c.678C>G (Ensembl:ENST00000257857) - p.Cys226Trp (Ensembl:ENST00000549117) - c.678C>G (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
rs749425779 | 228 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (1) Somatic: No Accession: NC_000012.12:g.55725596C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725596C>T Locations: - p.Val228Met (Ensembl:ENST00000420846) - c.682G>A (Ensembl:ENST00000420846) - p.Val228Met (Ensembl:ENST00000549117) - c.682G>A (Ensembl:ENST00000549117) - p.Val228Met (Ensembl:ENST00000552692) - c.682G>A (Ensembl:ENST00000552692) - p.Val228Met (Ensembl:ENST00000257857) - c.682G>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs531305760 | 230 | S>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.968) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55725590T>A Codon: AGT/TGT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725590T>A Locations: - p.Ser230Cys (Ensembl:ENST00000549117) - c.688A>T (Ensembl:ENST00000549117) - p.Ser230Cys (Ensembl:ENST00000257857) - c.688A>T (Ensembl:ENST00000257857) - p.Ser230Cys (Ensembl:ENST00000552692) - c.688A>T (Ensembl:ENST00000552692) - p.Ser230Cys (Ensembl:ENST00000420846) - c.688A>T (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs1877214624 | 230 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.55725589C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725589C>T Locations: - p.Ser230Asn (Ensembl:ENST00000549117) - c.689G>A (Ensembl:ENST00000549117) - p.Ser230Asn (Ensembl:ENST00000420846) - c.689G>A (Ensembl:ENST00000420846) - p.Ser230Asn (Ensembl:ENST00000257857) - c.689G>A (Ensembl:ENST00000257857) - p.Ser230Asn (Ensembl:ENST00000552692) - c.689G>A (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1050043 | 232 | R>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000012.12:g.55725583C>T Codon: AGA/AAA Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725583C>T Locations: - p.Arg232Lys (Ensembl:ENST00000257857) - c.695G>A (Ensembl:ENST00000257857) - p.Arg232Lys (Ensembl:ENST00000420846) - c.695G>A (Ensembl:ENST00000420846) - p.Arg232Lys (Ensembl:ENST00000552692) - c.695G>A (Ensembl:ENST00000552692) - p.Arg232Lys (Ensembl:ENST00000549117) - c.695G>A (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
TCGA novel | 232 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.852) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55725582T>G Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725582T>G Locations: - c.696A>C (NCI-TCGA:ENST00000257857) - p.R232S (NCI-TCGA:ENST00000257857) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV57675956 | 233 | S>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000012.12:g.55725581T>C Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725581T>C Locations: - p.S233G (NCI-TCGA:ENST00000257857) - p.Ser233Gly (cosmic curated:ENST00000257857) - c.697A>G (cosmic curated:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs1467414638 | 234 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.368) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55725577C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725577C>T Locations: - p.Gly234Asp (Ensembl:ENST00000549117) - c.701G>A (Ensembl:ENST00000549117) - p.Gly234Asp (Ensembl:ENST00000552692) - c.701G>A (Ensembl:ENST00000552692) - p.Gly234Asp (Ensembl:ENST00000420846) - c.701G>A (Ensembl:ENST00000420846) - p.Gly234Asp (Ensembl:ENST00000257857) - c.701G>A (Ensembl:ENST00000257857) Source type: large scale study Cross-references: | |||||||
rs750642029 | 234 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.124) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000012.12:g.55725578C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725578C>T Locations: - p.Gly234Ser (Ensembl:ENST00000257857) - c.700G>A (Ensembl:ENST00000257857) - p.Gly234Ser (Ensembl:ENST00000549117) - c.700G>A (Ensembl:ENST00000549117) - p.Gly234Ser (Ensembl:ENST00000552692) - c.700G>A (Ensembl:ENST00000552692) - p.Gly234Ser (Ensembl:ENST00000420846) - c.700G>A (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
TCGA novel | 234 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.358) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55725577C>A Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725577C>A Locations: - c.701G>T (NCI-TCGA:ENST00000257857) - p.G234V (NCI-TCGA:ENST00000257857) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs781426312 | 235 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000012.12:g.55725573G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725573G>T Locations: - p.Tyr235Ter (Ensembl:ENST00000549117) - c.705C>A (Ensembl:ENST00000549117) - p.Tyr235Ter (Ensembl:ENST00000552692) - c.705C>A (Ensembl:ENST00000552692) - p.Tyr235Ter (Ensembl:ENST00000257857) - c.705C>A (Ensembl:ENST00000257857) - p.Tyr235Ter (Ensembl:ENST00000420846) - c.705C>A (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs1221319432 | 236 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55725572C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725572C>T Locations: - p.Glu236Lys (Ensembl:ENST00000552692) - c.706G>A (Ensembl:ENST00000552692) - p.Glu236Lys (Ensembl:ENST00000549117) - c.706G>A (Ensembl:ENST00000549117) - p.Glu236Lys (Ensembl:ENST00000257857) - c.706G>A (Ensembl:ENST00000257857) - p.Glu236Lys (Ensembl:ENST00000420846) - c.706G>A (Ensembl:ENST00000420846) Source type: large scale study Cross-references: | |||||||
rs1592527280 | 237 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious (0) Somatic: No Accession: NC_000012.12:g.55725568A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725568A>C Locations: - p.Val237Gly (Ensembl:ENST00000257857) - c.710T>G (Ensembl:ENST00000257857) - p.Val237Gly (Ensembl:ENST00000552692) - c.710T>G (Ensembl:ENST00000552692) - p.Val237Gly (Ensembl:ENST00000420846) - c.710T>G (Ensembl:ENST00000420846) - p.Val237Gly (Ensembl:ENST00000549117) - c.710T>G (Ensembl:ENST00000549117) Source type: large scale study Cross-references: | |||||||
COSV106086531 rs1592527299 | 237 | V>M | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000012.12:g.55725569C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725569C>T Locations: - p.Val237Met (Ensembl:ENST00000257857) - c.709G>A (Ensembl:ENST00000257857) - p.Val237Met (Ensembl:ENST00000549117) - c.709G>A (Ensembl:ENST00000549117) - p.Val237Met (Ensembl:ENST00000420846) - c.709G>A (Ensembl:ENST00000420846) - p.Val237Met (Ensembl:ENST00000552692) - c.709G>A (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
rs1279557017 | 238 | M>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.368) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000012.12:g.55725564C>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725564C>A Locations: - p.Met238Ile (Ensembl:ENST00000549117) - c.714G>T (Ensembl:ENST00000549117) - p.Met238Ile (Ensembl:ENST00000420846) - c.714G>T (Ensembl:ENST00000420846) - p.Met238Ile (Ensembl:ENST00000257857) - c.714G>T (Ensembl:ENST00000257857) - p.Met238Ile (Ensembl:ENST00000552692) - c.714G>T (Ensembl:ENST00000552692) Source type: large scale study Cross-references: | |||||||
COSV57676712 rs757575130 | 239 | *>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP | |||
Consequence: stop retained Somatic: No Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000012.12:g.55725561C>T Consequence type: stop retained Cytogenetic band: 12q13.2 Genomic location: NC_000012.12:g.55725561C>T Locations: - c.717G>A (NCI-TCGA:ENST00000257857) - p.*239= (NCI-TCGA:ENST00000257857) Source type: large scale study |