Q9UBK7 · RBL2A_HUMAN
- ProteinRab-like protein 2A
- GeneRABL2A
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids228 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs577062989 | 2 | A>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.712) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.113628611C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628611C>T Locations: - p.Ala2Val (Ensembl:ENST00000393167) - c.5C>T (Ensembl:ENST00000393167) - p.Ala2Val (Ensembl:ENST00000393166) - c.5C>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1198941639 | 3 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000002.12:g.113628613G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628613G>C Locations: - p.Glu3Gln (Ensembl:ENST00000393167) - c.7G>C (Ensembl:ENST00000393167) - p.Glu3Gln (Ensembl:ENST00000393166) - c.7G>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1679026761 | 3 | E>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000002.12:g.113628614A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628614A>T Locations: - p.Glu3Val (Ensembl:ENST00000393167) - c.8A>T (Ensembl:ENST00000393167) - p.Glu3Val (Ensembl:ENST00000393166) - c.8A>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1381561186 | 4 | D>N | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000002.12:g.113628616G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628616G>A Locations: - p.Asp4Asn (Ensembl:ENST00000393167) - c.10G>A (Ensembl:ENST00000393167) - p.Asp4Asn (Ensembl:ENST00000393166) - c.10G>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs772440069 | 5 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: NC_000002.12:g.113628619A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628619A>G Locations: - p.Lys5Glu (Ensembl:ENST00000393167) - c.13A>G (Ensembl:ENST00000393167) - p.Lys5Glu (Ensembl:ENST00000393166) - c.13A>G (Ensembl:ENST00000393166) Source type: large scale study | |||||||
rs1679030787 | 5 | K>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000002.12:g.113628620A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628620A>C Locations: - p.Lys5Thr (Ensembl:ENST00000393167) - c.14A>C (Ensembl:ENST00000393167) - p.Lys5Thr (Ensembl:ENST00000393166) - c.14A>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV64573070 rs1356365346 | 8 | P>L | Variant of uncertain significance (Ensembl) | cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.27) Somatic: Yes Accession: NC_000002.12:g.113628629C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628629C>T Locations: - p.Pro8Leu (Ensembl:ENST00000393167) - c.23C>T (Ensembl:ENST00000393167) - p.Pro8Leu (Ensembl:ENST00000393166) - c.23C>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs545985600 | 8 | P>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.48) Somatic: No Accession: NC_000002.12:g.113628628C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628628C>T Locations: - p.Pro8Ser (Ensembl:ENST00000393166) - c.22C>T (Ensembl:ENST00000393166) - p.Pro8Ser (Ensembl:ENST00000393167) - c.22C>T (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs376664304 | 9 | S>N | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.42) Somatic: No Accession: NC_000002.12:g.113628632G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628632G>A Locations: - p.Ser9Asn (Ensembl:ENST00000393166) - c.26G>A (Ensembl:ENST00000393166) - p.Ser9Asn (Ensembl:ENST00000393167) - c.26G>A (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs1679037363 | 10 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.113628634G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628634G>T Locations: - p.Glu10Ter (Ensembl:ENST00000393166) - c.28G>T (Ensembl:ENST00000393166) - p.Glu10Ter (Ensembl:ENST00000393167) - c.28G>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1679038280 | 10 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000002.12:g.113628635A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628635A>G Locations: - p.Glu10Gly (Ensembl:ENST00000393167) - c.29A>G (Ensembl:ENST00000393167) - p.Glu10Gly (Ensembl:ENST00000393166) - c.29A>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1679039004 | 13 | Q>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.113628644A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628644A>C Locations: - p.Gln13Pro (Ensembl:ENST00000393166) - c.38A>C (Ensembl:ENST00000393166) - p.Gln13Pro (Ensembl:ENST00000393167) - c.38A>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs754281098 | 14 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.113628647G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628647G>A Locations: - p.Gly14Glu (Ensembl:ENST00000393166) - c.41G>A (Ensembl:ENST00000393166) - p.Gly14Glu (Ensembl:ENST00000393167) - c.41G>A (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs762594546 | 15 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.113628650A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628650A>G Locations: - p.Lys15Arg (Ensembl:ENST00000393167) - c.44A>G (Ensembl:ENST00000393167) - p.Lys15Arg (Ensembl:ENST00000393166) - c.44A>G (Ensembl:ENST00000393166) Source type: large scale study | |||||||
rs762594546 | 15 | K>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000002.12:g.113628650A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628650A>C Locations: - p.Lys15Thr (Ensembl:ENST00000393166) - c.44A>C (Ensembl:ENST00000393166) - p.Lys15Thr (Ensembl:ENST00000393167) - c.44A>C (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs1679045177 | 17 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000002.12:g.113628656A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628656A>G Locations: - p.Asp17Gly (Ensembl:ENST00000393166) - c.50A>G (Ensembl:ENST00000393166) - p.Asp17Gly (Ensembl:ENST00000393167) - c.50A>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1679047992 | 21 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000002.12:g.113628667A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628667A>G Locations: - p.Asn21Asp (Ensembl:ENST00000393167) - c.61A>G (Ensembl:ENST00000393167) - p.Asn21Asp (Ensembl:ENST00000393166) - c.61A>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1573920872 | 21 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000002.12:g.113628669C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628669C>A Locations: - p.Asn21Lys (Ensembl:ENST00000393166) - c.63C>A (Ensembl:ENST00000393166) - p.Asn21Lys (Ensembl:ENST00000393167) - c.63C>A (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1443089347 | 21 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000002.12:g.113628668A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628668A>G Locations: - p.Asn21Ser (Ensembl:ENST00000393167) - c.62A>G (Ensembl:ENST00000393167) - p.Asn21Ser (Ensembl:ENST00000393166) - c.62A>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1186850680 | 23 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113628675G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628675G>T Locations: - p.Lys23Asn (Ensembl:ENST00000393167) - c.69G>T (Ensembl:ENST00000393167) - p.Lys23Asn (Ensembl:ENST00000393166) - c.69G>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs754606746 | 24 | I>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113628676A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628676A>T Locations: - p.Ile24Phe (Ensembl:ENST00000393167) - c.70A>T (Ensembl:ENST00000393167) - p.Ile24Phe (Ensembl:ENST00000393166) - c.70A>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs780700512 | 24 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113628678C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628678C>G Locations: - p.Ile24Met (Ensembl:ENST00000393167) - c.72C>G (Ensembl:ENST00000393167) - p.Ile24Met (Ensembl:ENST00000393166) - c.72C>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs754606746 | 24 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000002.12:g.113628676A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628676A>G Locations: - p.Ile24Val (Ensembl:ENST00000393167) - c.70A>G (Ensembl:ENST00000393167) - p.Ile24Val (Ensembl:ENST00000393166) - c.70A>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs752595993 | 25 | I>N | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113628680T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628680T>A Locations: - p.Ile25Asn (Ensembl:ENST00000393166) - c.74T>A (Ensembl:ENST00000393166) - p.Ile25Asn (Ensembl:ENST00000393167) - c.74T>A (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs752595993 | 25 | I>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113628680T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628680T>G Locations: - p.Ile25Ser (Ensembl:ENST00000393166) - c.74T>G (Ensembl:ENST00000393166) - p.Ile25Ser (Ensembl:ENST00000393167) - c.74T>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
COSV104693311 | 26 | C>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.113628682T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.113628682T>G Locations: - p.Cys26Gly (cosmic curated:ENST00000393166) - c.76T>G (cosmic curated:ENST00000393166) - p.Cys26Gly (cosmic curated:ENST00000393167) - c.76T>G (cosmic curated:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1679056545 | 26 | C>Y | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113628683G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628683G>A Locations: - p.Cys26Tyr (Ensembl:ENST00000393166) - c.77G>A (Ensembl:ENST00000393166) - p.Cys26Tyr (Ensembl:ENST00000393167) - c.77G>A (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1679057438 | 28 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113628688G>C Codon: GGA/CGA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628688G>C Locations: - p.Gly28Arg (Ensembl:ENST00000393167) - c.82G>C (Ensembl:ENST00000393167) - p.Gly28Arg (Ensembl:ENST00000393166) - c.82G>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1679059217 | 30 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.262) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113628694A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628694A>G Locations: - p.Ser30Gly (Ensembl:ENST00000393167) - c.88A>G (Ensembl:ENST00000393167) - p.Ser30Gly (Ensembl:ENST00000393166) - c.88A>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1453048952 | 30 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113628695G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628695G>A Locations: - p.Ser30Asn (Ensembl:ENST00000393167) - c.89G>A (Ensembl:ENST00000393167) - p.Ser30Asn (Ensembl:ENST00000393166) - c.89G>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV100905719 rs1404186835 | 31 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.000009992 (gnomAD) Accession: NC_000002.12:g.113628697G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628697G>A Locations: - p.A31T (NCI-TCGA:ENST00000393167) - p.A31T (NCI-TCGA:ENST00000393166) - p.Ala31Thr (Ensembl:ENST00000393167) - c.91G>A (Ensembl:ENST00000393167) - p.Ala31Thr (Ensembl:ENST00000393166) - c.91G>A (Ensembl:ENST00000393166) Source type: large scale study | |||||||
rs1163922193 | 33 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113628703G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628703G>C Locations: - p.Gly33Arg (Ensembl:ENST00000393166) - c.97G>C (Ensembl:ENST00000393166) - p.Gly33Arg (Ensembl:ENST00000393167) - c.97G>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1311701759 | 35 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113628710C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113628710C>T Locations: - p.Ser35Phe (Ensembl:ENST00000393167) - c.104C>T (Ensembl:ENST00000393167) - p.Ser35Phe (Ensembl:ENST00000393166) - c.104C>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs370021349 | 38 | M>L | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000002.12:g.113632919A>T, NC_000002.12:g.113632919A>C Codon: ATG/TTG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113632919A>T, NC_000002.12:g.113632919A>C Locations: - p.Met38Leu (Ensembl:ENST00000393167) - c.112A>T (Ensembl:ENST00000393167) - p.Met38Leu (Ensembl:ENST00000393166) - c.112A>T (Ensembl:ENST00000393166) - c.112A>C (Ensembl:ENST00000393167) - c.112A>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV106112295 | 39 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.113632922G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.113632922G>A Locations: - p.Glu39Lys (cosmic curated:ENST00000393167) - c.115G>A (cosmic curated:ENST00000393167) - p.Glu39Lys (cosmic curated:ENST00000393166) - c.115G>A (cosmic curated:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV108222204 | 39 | E>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.113632922G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.113632922G>C Locations: - p.Glu39Gln (cosmic curated:ENST00000393167) - c.115G>C (cosmic curated:ENST00000393167) - p.Glu39Gln (cosmic curated:ENST00000393166) - c.115G>C (cosmic curated:ENST00000393166) Source type: large scale study Cross-references: | |||||||
TCGA novel | 40 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113632926G>T Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113632926G>T Locations: - c.119G>T (NCI-TCGA:ENST00000393166) - p.R40I (NCI-TCGA:ENST00000393166) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1680969210 | 42 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113632931C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113632931C>T Locations: - p.Leu42Phe (Ensembl:ENST00000393166) - c.124C>T (Ensembl:ENST00000393166) - p.Leu42Phe (Ensembl:ENST00000393167) - c.124C>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1169634333 | 43 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.113632934A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113632934A>G Locations: - p.Met43Val (Ensembl:ENST00000393166) - c.127A>G (Ensembl:ENST00000393166) - p.Met43Val (Ensembl:ENST00000393167) - c.127A>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs767248096 | 44 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.905) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.113632939T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113632939T>A Locations: - p.Asp44Glu (Ensembl:ENST00000393167) - c.132T>A (Ensembl:ENST00000393167) - p.Asp44Glu (Ensembl:ENST00000393166) - c.132T>A (Ensembl:ENST00000393166) Source type: large scale study | |||||||
rs759103794 | 44 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.619) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.113632938A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113632938A>G Locations: - p.Asp44Gly (Ensembl:ENST00000393166) - c.131A>G (Ensembl:ENST00000393166) - p.Asp44Gly (Ensembl:ENST00000393167) - c.131A>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1465844190 | 44 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.337) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.113632937G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113632937G>A Locations: - p.Asp44Asn (Ensembl:ENST00000393167) - c.130G>A (Ensembl:ENST00000393167) - p.Asp44Asn (Ensembl:ENST00000393166) - c.130G>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1173650368 | 45 | G>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.611) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.113632941G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113632941G>C Locations: - p.Gly45Ala (Ensembl:ENST00000393166) - c.134G>C (Ensembl:ENST00000393166) - p.Gly45Ala (Ensembl:ENST00000393167) - c.134G>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1278367677 | 45 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.526) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.113632940G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113632940G>A Locations: - p.Gly45Ser (Ensembl:ENST00000393167) - c.133G>A (Ensembl:ENST00000393167) - p.Gly45Ser (Ensembl:ENST00000393166) - c.133G>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs761640705 | 49 | Q>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.499) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113634160C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634160C>G Locations: - p.Gln49Glu (Ensembl:ENST00000393167) - c.145C>G (Ensembl:ENST00000393167) - p.Gln49Glu (Ensembl:ENST00000393166) - c.145C>G (Ensembl:ENST00000393166) Source type: large scale study | |||||||
COSV64573463 | 49 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.15) Somatic: Yes Accession: NC_000002.12:g.113634162G>T Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634162G>T Locations: - p.Q49H (NCI-TCGA:ENST00000393166) - p.Gln49His (cosmic curated:ENST00000393166) - c.147G>T (cosmic curated:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1210839100 | 50 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.113634163C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634163C>T Locations: - p.Gln50Ter (Ensembl:ENST00000393166) - c.148C>T (Ensembl:ENST00000393166) - p.Gln50Ter (Ensembl:ENST00000393167) - c.148C>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
COSV64573430 | 51 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.113634166C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.113634166C>A Locations: - p.Leu51Met (cosmic curated:ENST00000393166) - c.151C>A (cosmic curated:ENST00000393166) - p.Leu51Met (cosmic curated:ENST00000393167) - c.151C>A (cosmic curated:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1291283384 | 51 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113634167T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634167T>C Locations: - p.Leu51Pro (Ensembl:ENST00000393167) - c.152T>C (Ensembl:ENST00000393167) - p.Leu51Pro (Ensembl:ENST00000393166) - c.152T>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV64573326 rs143748881 | 53 | T>M | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000002.12:g.113634173C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634173C>T Locations: - p.Thr53Met (Ensembl:ENST00000393166) - c.158C>T (Ensembl:ENST00000393166) - p.Thr53Met (Ensembl:ENST00000393167) - c.158C>T (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs781605553 | 55 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.113634178G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634178G>A Locations: - p.Ala55Thr (Ensembl:ENST00000393166) - c.163G>A (Ensembl:ENST00000393166) - p.Ala55Thr (Ensembl:ENST00000393167) - c.163G>A (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs1257576522 | 55 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113634179C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634179C>T Locations: - p.Ala55Val (Ensembl:ENST00000393167) - c.164C>T (Ensembl:ENST00000393167) - p.Ala55Val (Ensembl:ENST00000393166) - c.164C>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs867828808 | 56 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113634182T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634182T>C Locations: - p.Leu56Pro (Ensembl:ENST00000393166) - c.167T>C (Ensembl:ENST00000393166) - p.Leu56Pro (Ensembl:ENST00000393167) - c.167T>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs752926494 | 57 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.969) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113634185C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634185C>T Locations: - p.Thr57Ile (Ensembl:ENST00000393166) - c.170C>T (Ensembl:ENST00000393166) - p.Thr57Ile (Ensembl:ENST00000393167) - c.170C>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs752926494 | 57 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.113634185C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634185C>G Locations: - p.Thr57Ser (Ensembl:ENST00000393166) - c.170C>G (Ensembl:ENST00000393166) - p.Thr57Ser (Ensembl:ENST00000393167) - c.170C>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
TCGA novel | 58 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.113634187C>A Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634187C>A Locations: - c.172C>A (NCI-TCGA:ENST00000393166) - p.L58M (NCI-TCGA:ENST00000393166) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1681570891 | 58 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113634188T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634188T>C Locations: - p.Leu58Pro (Ensembl:ENST00000393167) - c.173T>C (Ensembl:ENST00000393167) - p.Leu58Pro (Ensembl:ENST00000393166) - c.173T>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1470720300 | 59 | Y>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.113634192C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634192C>A Locations: - p.Tyr59Ter (Ensembl:ENST00000393166) - c.177C>A (Ensembl:ENST00000393166) - p.Tyr59Ter (Ensembl:ENST00000393167) - c.177C>A (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1158312498 | 62 | T>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000002.12:g.113634200C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634200C>G Locations: - p.Thr62Arg (Ensembl:ENST00000393166) - c.185C>G (Ensembl:ENST00000393166) - p.Thr62Arg (Ensembl:ENST00000393167) - c.185C>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
TCGA novel | 63 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.506) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.113634202G>T Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634202G>T Locations: - c.187G>T (NCI-TCGA:ENST00000393166) - p.A63S (NCI-TCGA:ENST00000393166) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100905650 rs200156130 | 64 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.803) - SIFT: deleterious (0.04) Somatic: Yes Population frequencies: - MAF: 0.00004012 (gnomAD) Accession: NC_000002.12:g.113634206C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634206C>T Locations: - p.T64M (NCI-TCGA:ENST00000393167) - p.T64M (NCI-TCGA:ENST00000393166) - p.Thr64Met (Ensembl:ENST00000393167) - c.191C>T (Ensembl:ENST00000393167) - p.Thr64Met (Ensembl:ENST00000393166) - c.191C>T (Ensembl:ENST00000393166) Source type: large scale study | |||||||
rs1433162162 | 65 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.113634209T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634209T>C Locations: - p.Val65Ala (Ensembl:ENST00000393166) - c.194T>C (Ensembl:ENST00000393166) - p.Val65Ala (Ensembl:ENST00000393167) - c.194T>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1473598030 | 65 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000002.12:g.113634208G>T Codon: GTA/TTA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634208G>T Locations: - p.Val65Leu (Ensembl:ENST00000393167) - c.193G>T (Ensembl:ENST00000393167) - p.Val65Leu (Ensembl:ENST00000393166) - c.193G>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV100905611 | 66 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.19) Somatic: Yes Accession: NC_000002.12:g.113634212A>G Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634212A>G Locations: - p.D66G (NCI-TCGA:ENST00000393166) - p.Asp66Gly (cosmic curated:ENST00000393166) - c.197A>G (cosmic curated:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV108222315 TCGA novel | 68 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000002.12:g.113634219G>C, NC_000002.12:g.113634219G>T Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634219G>C, NC_000002.12:g.113634219G>T Locations: - p.Lys68Asn (cosmic curated:ENST00000393166) - c.204G>C (cosmic curated:ENST00000393166) - p.Lys68Asn (cosmic curated:ENST00000393167) - c.204G>C (cosmic curated:ENST00000393167) - c.204G>T (NCI-TCGA:ENST00000393166) - p.K68N (NCI-TCGA:ENST00000393166) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2592662 | 68 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000002.12:g.113634218A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634218A>G Locations: - p.Lys68Arg (Ensembl:ENST00000393167) - c.203A>G (Ensembl:ENST00000393167) - p.Lys68Arg (Ensembl:ENST00000393166) - c.203A>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs2592662 | 68 | K>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.113634218A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634218A>C Locations: - p.Lys68Thr (Ensembl:ENST00000393167) - c.203A>C (Ensembl:ENST00000393167) - p.Lys68Thr (Ensembl:ENST00000393166) - c.203A>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1574008691 | 70 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.113634223A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634223A>G Locations: - p.Ile70Val (Ensembl:ENST00000393166) - c.208A>G (Ensembl:ENST00000393166) - p.Ile70Val (Ensembl:ENST00000393167) - c.208A>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1310104979 | 71 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.73) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000002.12:g.113634226C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634226C>T Locations: - p.Leu71Phe (Ensembl:ENST00000393166) - c.211C>T (Ensembl:ENST00000393166) - p.Leu71Phe (Ensembl:ENST00000393167) - c.211C>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
COSV64573258 | 71 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.199) - SIFT: tolerated (0.19) Somatic: Yes Accession: NC_000002.12:g.113634226C>A Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113634226C>A Locations: - p.L71I (NCI-TCGA:ENST00000393166) - p.Leu71Ile (cosmic curated:ENST00000393166) - c.211C>A (cosmic curated:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs757620437 | 73 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.743) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.113635052C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635052C>G Locations: - p.Asp73Glu (Ensembl:ENST00000393166) - c.219C>G (Ensembl:ENST00000393166) - p.Asp73Glu (Ensembl:ENST00000393167) - c.219C>G (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs1682005594 | 75 | W>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.113635058G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635058G>A Locations: - p.Trp75Ter (Ensembl:ENST00000393166) - c.225G>A (Ensembl:ENST00000393166) - p.Trp75Ter (Ensembl:ENST00000393167) - c.225G>A (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1682006498 | 76 | D>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113635059G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635059G>T Locations: - p.Asp76Tyr (Ensembl:ENST00000393167) - c.226G>T (Ensembl:ENST00000393167) - p.Asp76Tyr (Ensembl:ENST00000393166) - c.226G>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV64573303 rs1207949545 | 77 | T>M | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.113635063C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635063C>T Locations: - p.Thr77Met (Ensembl:ENST00000393166) - c.230C>T (Ensembl:ENST00000393166) - p.Thr77Met (Ensembl:ENST00000393167) - c.230C>T (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs750551867 | 78 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113635065G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635065G>C Locations: - p.Ala78Pro (Ensembl:ENST00000393166) - c.232G>C (Ensembl:ENST00000393166) - p.Ala78Pro (Ensembl:ENST00000393167) - c.232G>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs768179686 | 78 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113635066C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635066C>T Locations: - p.Ala78Val (Ensembl:ENST00000393166) - c.233C>T (Ensembl:ENST00000393166) - p.Ala78Val (Ensembl:ENST00000393167) - c.233C>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1559160289 | 80 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.113635071C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635071C>T Locations: - p.Gln80Ter (Ensembl:ENST00000393166) - c.238C>T (Ensembl:ENST00000393166) - p.Gln80Ter (Ensembl:ENST00000393167) - c.238C>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1373684424 | 80 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113635072A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635072A>G Locations: - p.Gln80Arg (Ensembl:ENST00000393166) - c.239A>G (Ensembl:ENST00000393166) - p.Gln80Arg (Ensembl:ENST00000393167) - c.239A>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1475246265 | 81 | E>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.113635074G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635074G>T Locations: - p.Glu81Ter (Ensembl:ENST00000393166) - c.241G>T (Ensembl:ENST00000393166) - p.Glu81Ter (Ensembl:ENST00000393167) - c.241G>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs557151949 | 81 | E>D | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.113635076G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635076G>T Locations: - p.Glu81Asp (Ensembl:ENST00000393166) - c.243G>T (Ensembl:ENST00000393166) - p.Glu81Asp (Ensembl:ENST00000393167) - c.243G>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs780626127 | 81 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.113635075A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635075A>G Locations: - p.Glu81Gly (Ensembl:ENST00000393167) - c.242A>G (Ensembl:ENST00000393167) - p.Glu81Gly (Ensembl:ENST00000393166) - c.242A>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs145167719 | 82 | R>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113635078G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635078G>T Locations: - p.Arg82Leu (Ensembl:ENST00000393167) - c.245G>T (Ensembl:ENST00000393167) - p.Arg82Leu (Ensembl:ENST00000393166) - c.245G>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs145167719 | 82 | R>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.782) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113635078G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635078G>A Locations: - p.Arg82Gln (Ensembl:ENST00000393167) - c.245G>A (Ensembl:ENST00000393167) - p.Arg82Gln (Ensembl:ENST00000393166) - c.245G>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs769492237 | 82 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113635077C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635077C>T Locations: - p.Arg82Trp (Ensembl:ENST00000393167) - c.244C>T (Ensembl:ENST00000393167) - p.Arg82Trp (Ensembl:ENST00000393166) - c.244C>T (Ensembl:ENST00000393166) Source type: large scale study | |||||||
rs749074399 | 84 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.113635083C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635083C>T Locations: - p.Gln84Ter (Ensembl:ENST00000393167) - c.250C>T (Ensembl:ENST00000393167) - p.Gln84Ter (Ensembl:ENST00000393166) - c.250C>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs770718479 | 84 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.113635085G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635085G>C Locations: - p.Gln84His (Ensembl:ENST00000393166) - c.252G>C (Ensembl:ENST00000393166) - p.Gln84His (Ensembl:ENST00000393167) - c.252G>C (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs1413503549 | 86 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.23) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.113635091G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635091G>C Locations: - p.Met86Ile (Ensembl:ENST00000393167) - c.258G>C (Ensembl:ENST00000393167) - p.Met86Ile (Ensembl:ENST00000393166) - c.258G>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs371828050 | 86 | M>L | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000002.12:g.113635089A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635089A>T Locations: - p.Met86Leu (Ensembl:ENST00000393167) - c.256A>T (Ensembl:ENST00000393167) - p.Met86Leu (Ensembl:ENST00000393166) - c.256A>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs201455591 | 86 | M>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113635090T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635090T>G Locations: - p.Met86Arg (Ensembl:ENST00000393166) - c.257T>G (Ensembl:ENST00000393166) - p.Met86Arg (Ensembl:ENST00000393167) - c.257T>G (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs201455591 | 86 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.836) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113635090T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635090T>C Locations: - p.Met86Thr (Ensembl:ENST00000393166) - c.257T>C (Ensembl:ENST00000393166) - p.Met86Thr (Ensembl:ENST00000393167) - c.257T>C (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs369446097 | 87 | H>R | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113635093A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635093A>G Locations: - p.His87Arg (Ensembl:ENST00000393166) - c.260A>G (Ensembl:ENST00000393166) - p.His87Arg (Ensembl:ENST00000393167) - c.260A>G (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs376471002 | 87 | H>Y | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113635092C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635092C>T Locations: - p.His87Tyr (Ensembl:ENST00000393167) - c.259C>T (Ensembl:ENST00000393167) - p.His87Tyr (Ensembl:ENST00000393166) - c.259C>T (Ensembl:ENST00000393166) Source type: large scale study | |||||||
COSV64573442 | 88 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000002.12:g.113635095G>T Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635095G>T Locations: - p.A88S (NCI-TCGA:ENST00000393166) - p.Ala88Ser (cosmic curated:ENST00000393166) - c.262G>T (cosmic curated:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1272916800 | 88 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.518) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000002.12:g.113635095G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635095G>A Locations: - p.Ala88Thr (Ensembl:ENST00000393166) - c.262G>A (Ensembl:ENST00000393166) - p.Ala88Thr (Ensembl:ENST00000393167) - c.262G>A (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
COSV64573066 | 89 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.113635099C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.113635099C>T Locations: - p.Ser89Phe (cosmic curated:ENST00000393166) - c.266C>T (cosmic curated:ENST00000393166) - p.Ser89Phe (cosmic curated:ENST00000393167) - c.266C>T (cosmic curated:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs764273371 | 90 | Y>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.113635102A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635102A>C Locations: - p.Tyr90Ser (Ensembl:ENST00000393166) - c.269A>C (Ensembl:ENST00000393166) - p.Tyr90Ser (Ensembl:ENST00000393167) - c.269A>C (Ensembl:ENST00000393167) Source type: large scale study | |||||||
COSV107499431 | 91 | Y>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.113635105A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.113635105A>T Locations: - p.Tyr91Phe (cosmic curated:ENST00000393167) - c.272A>T (cosmic curated:ENST00000393167) - p.Tyr91Phe (cosmic curated:ENST00000393166) - c.272A>T (cosmic curated:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1436932612 | 91 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113635104T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635104T>C Locations: - p.Tyr91His (Ensembl:ENST00000393166) - c.271T>C (Ensembl:ENST00000393166) - p.Tyr91His (Ensembl:ENST00000393167) - c.271T>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs757597347 | 92 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113635108A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635108A>G Locations: - p.His92Arg (Ensembl:ENST00000393167) - c.275A>G (Ensembl:ENST00000393167) - p.His92Arg (Ensembl:ENST00000393166) - c.275A>G (Ensembl:ENST00000393166) Source type: large scale study | |||||||
rs1446513522 | 93 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.113635111A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635111A>G Locations: - p.Lys93Arg (Ensembl:ENST00000393166) - c.278A>G (Ensembl:ENST00000393166) - p.Lys93Arg (Ensembl:ENST00000393167) - c.278A>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs145909437 | 94 | A>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113635113G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635113G>A Locations: - p.Ala94Thr (Ensembl:ENST00000393167) - c.280G>A (Ensembl:ENST00000393167) - p.Ala94Thr (Ensembl:ENST00000393166) - c.280G>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1574024856 | 94 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113635114C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635114C>T Locations: - p.Ala94Val (Ensembl:ENST00000393167) - c.281C>T (Ensembl:ENST00000393167) - p.Ala94Val (Ensembl:ENST00000393166) - c.281C>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs552994730 | 96 | A>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.823) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.113635119G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635119G>T Locations: - p.Ala96Ser (Ensembl:ENST00000393167) - c.286G>T (Ensembl:ENST00000393167) - p.Ala96Ser (Ensembl:ENST00000393166) - c.286G>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs552994730 | 96 | A>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113635119G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635119G>A Locations: - p.Ala96Thr (Ensembl:ENST00000393167) - c.286G>A (Ensembl:ENST00000393167) - p.Ala96Thr (Ensembl:ENST00000393166) - c.286G>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1682045429 | 97 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113635123G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635123G>A Locations: - p.Cys97Tyr (Ensembl:ENST00000393167) - c.290G>A (Ensembl:ENST00000393167) - p.Cys97Tyr (Ensembl:ENST00000393166) - c.290G>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1180144080 | 98 | I>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113635125A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635125A>T Locations: - p.Ile98Phe (Ensembl:ENST00000393167) - c.292A>T (Ensembl:ENST00000393167) - p.Ile98Phe (Ensembl:ENST00000393166) - c.292A>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1180144080 | 98 | I>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.549) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.113635125A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635125A>C Locations: - p.Ile98Leu (Ensembl:ENST00000393167) - c.292A>C (Ensembl:ENST00000393167) - p.Ile98Leu (Ensembl:ENST00000393166) - c.292A>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs758838759 | 99 | M>I | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000002.12:g.113635130G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635130G>C Locations: - p.Met99Ile (Ensembl:ENST00000393167) - c.297G>C (Ensembl:ENST00000393167) - p.Met99Ile (Ensembl:ENST00000393166) - c.297G>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1475646105 | 99 | M>V | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113635128A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113635128A>G Locations: - p.Met99Val (Ensembl:ENST00000393167) - c.295A>G (Ensembl:ENST00000393167) - p.Met99Val (Ensembl:ENST00000393166) - c.295A>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1435010309 | 102 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113640900G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640900G>C Locations: - p.Asp102His (Ensembl:ENST00000393166) - c.304G>C (Ensembl:ENST00000393166) - p.Asp102His (Ensembl:ENST00000393167) - c.304G>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1435010309 | 102 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113640900G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640900G>A Locations: - p.Asp102Asn (Ensembl:ENST00000393166) - c.304G>A (Ensembl:ENST00000393166) - p.Asp102Asn (Ensembl:ENST00000393167) - c.304G>A (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
COSV64573106 | 103 | I>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.113640905A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.113640905A>G Locations: - p.Ile103Met (cosmic curated:ENST00000393167) - c.309A>G (cosmic curated:ENST00000393167) - p.Ile103Met (cosmic curated:ENST00000393166) - c.309A>G (cosmic curated:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs552197249 | 103 | I>T | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.113640904T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640904T>C Locations: - p.Ile103Thr (Ensembl:ENST00000393166) - c.308T>C (Ensembl:ENST00000393166) - p.Ile103Thr (Ensembl:ENST00000393167) - c.308T>C (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs2595124 | 103 | I>V | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.113640903A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640903A>G Locations: - p.Ile103Val (Ensembl:ENST00000393166) - c.307A>G (Ensembl:ENST00000393166) - p.Ile103Val (Ensembl:ENST00000393167) - c.307A>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs551386900 | 104 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.336) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113640906C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640906C>G Locations: - p.Gln104Glu (Ensembl:ENST00000393167) - c.310C>G (Ensembl:ENST00000393167) - p.Gln104Glu (Ensembl:ENST00000393166) - c.310C>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1393531911 | 104 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113640908G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640908G>T Locations: - p.Gln104His (Ensembl:ENST00000393167) - c.312G>T (Ensembl:ENST00000393167) - p.Gln104His (Ensembl:ENST00000393166) - c.312G>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV100905647 | 105 | R>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.113640910G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.113640910G>T Locations: - p.Arg105Met (cosmic curated:ENST00000393166) - c.314G>T (cosmic curated:ENST00000393166) - p.Arg105Met (cosmic curated:ENST00000393167) - c.314G>T (cosmic curated:ENST00000393167) Source type: large scale study Cross-references: | |||||||
TCGA novel | 106 | K>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.113640912A>T Consequence type: stop gained Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640912A>T Locations: - c.316A>T (NCI-TCGA:ENST00000393166) - p.K106* (NCI-TCGA:ENST00000393166) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1412656017 | 108 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113640918A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640918A>G Locations: - p.Thr108Ala (Ensembl:ENST00000393167) - c.322A>G (Ensembl:ENST00000393167) - p.Thr108Ala (Ensembl:ENST00000393166) - c.322A>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1308131438 | 108 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113640919C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640919C>T Locations: - p.Thr108Ile (Ensembl:ENST00000393167) - c.323C>T (Ensembl:ENST00000393167) - p.Thr108Ile (Ensembl:ENST00000393166) - c.323C>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1684888646 | 109 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113640922A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640922A>G Locations: - p.Tyr109Cys (Ensembl:ENST00000393166) - c.326A>G (Ensembl:ENST00000393166) - p.Tyr109Cys (Ensembl:ENST00000393167) - c.326A>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs559342738 | 109 | Y>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113640921T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640921T>C Locations: - p.Tyr109His (Ensembl:ENST00000393166) - c.325T>C (Ensembl:ENST00000393166) - p.Tyr109His (Ensembl:ENST00000393167) - c.325T>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs150723938 | 110 | R>G | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.217) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113640924A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640924A>G Locations: - p.Arg110Gly (Ensembl:ENST00000393166) - c.328A>G (Ensembl:ENST00000393166) - p.Arg110Gly (Ensembl:ENST00000393167) - c.328A>G (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs1684891040 | 110 | R>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.113640925G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640925G>C Locations: - p.Arg110Thr (Ensembl:ENST00000393166) - c.329G>C (Ensembl:ENST00000393166) - p.Arg110Thr (Ensembl:ENST00000393167) - c.329G>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1301003053 | 111 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.798) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113640927A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640927A>G Locations: - p.Asn111Asp (Ensembl:ENST00000393167) - c.331A>G (Ensembl:ENST00000393167) - p.Asn111Asp (Ensembl:ENST00000393166) - c.331A>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs184186348 | 111 | N>I | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113640928A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640928A>T Locations: - p.Asn111Ile (Ensembl:ENST00000393166) - c.332A>T (Ensembl:ENST00000393166) - p.Asn111Ile (Ensembl:ENST00000393167) - c.332A>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1684893795 | 111 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113640929C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640929C>A Locations: - p.Asn111Lys (Ensembl:ENST00000393166) - c.333C>A (Ensembl:ENST00000393166) - p.Asn111Lys (Ensembl:ENST00000393167) - c.333C>A (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs184186348 | 111 | N>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.113640928A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640928A>G Locations: - p.Asn111Ser (Ensembl:ENST00000393166) - c.332A>G (Ensembl:ENST00000393166) - p.Asn111Ser (Ensembl:ENST00000393167) - c.332A>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs780172866 | 112 | L>M | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113640930C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640930C>A Locations: - p.Leu112Met (Ensembl:ENST00000393167) - c.334C>A (Ensembl:ENST00000393167) - p.Leu112Met (Ensembl:ENST00000393166) - c.334C>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1684895623 | 112 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113640931T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640931T>G Locations: - p.Leu112Arg (Ensembl:ENST00000393166) - c.335T>G (Ensembl:ENST00000393166) - p.Leu112Arg (Ensembl:ENST00000393167) - c.335T>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs780172866 | 112 | L>V | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113640930C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640930C>G Locations: - p.Leu112Val (Ensembl:ENST00000393167) - c.334C>G (Ensembl:ENST00000393167) - p.Leu112Val (Ensembl:ENST00000393166) - c.334C>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs746898109 | 113 | S>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.38) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113640934G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640934G>T Locations: - p.Ser113Ile (Ensembl:ENST00000393167) - c.338G>T (Ensembl:ENST00000393167) - p.Ser113Ile (Ensembl:ENST00000393166) - c.338G>T (Ensembl:ENST00000393166) Source type: large scale study | |||||||
rs746898109 | 113 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000002.12:g.113640934G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640934G>A Locations: - p.Ser113Asn (Ensembl:ENST00000393167) - c.338G>A (Ensembl:ENST00000393167) - p.Ser113Asn (Ensembl:ENST00000393166) - c.338G>A (Ensembl:ENST00000393166) Source type: large scale study | |||||||
rs1416220338 | 113 | S>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.305) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.113640933A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640933A>C Locations: - p.Ser113Arg (Ensembl:ENST00000393166) - c.337A>C (Ensembl:ENST00000393166) - p.Ser113Arg (Ensembl:ENST00000393167) - c.337A>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1278501188 | 114 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000002.12:g.113640937C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640937C>T Locations: - p.Thr114Ile (Ensembl:ENST00000393167) - c.341C>T (Ensembl:ENST00000393167) - p.Thr114Ile (Ensembl:ENST00000393166) - c.341C>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV104693310 | 115 | W>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.113640940G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.113640940G>A Locations: - p.Trp115Ter (cosmic curated:ENST00000393167) - c.344G>A (cosmic curated:ENST00000393167) - p.Trp115Ter (cosmic curated:ENST00000393166) - c.344G>A (cosmic curated:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1684901222 | 115 | W>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113640941G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640941G>T Locations: - p.Trp115Cys (Ensembl:ENST00000393167) - c.345G>T (Ensembl:ENST00000393167) - p.Trp115Cys (Ensembl:ENST00000393166) - c.345G>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs568087319 | 116 | Y>H | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.387) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113640942T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640942T>C Locations: - p.Tyr116His (Ensembl:ENST00000393166) - c.346T>C (Ensembl:ENST00000393166) - p.Tyr116His (Ensembl:ENST00000393167) - c.346T>C (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs1684902934 | 116 | Y>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113640943A>C Codon: TAT/TCT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640943A>C Locations: - p.Tyr116Ser (Ensembl:ENST00000393167) - c.347A>C (Ensembl:ENST00000393167) - p.Tyr116Ser (Ensembl:ENST00000393166) - c.347A>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1684904554 | 117 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000002.12:g.113640945A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640945A>G Locations: - p.Thr117Ala (Ensembl:ENST00000393166) - c.349A>G (Ensembl:ENST00000393166) - p.Thr117Ala (Ensembl:ENST00000393167) - c.349A>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
COSV64573540 | 118 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.113640948G>T Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640948G>T Locations: - p.E118* (NCI-TCGA:ENST00000393166) - p.Glu118Ter (cosmic curated:ENST00000393166) - c.352G>T (cosmic curated:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1418497272 | 118 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113640949A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640949A>C Locations: - p.Glu118Ala (Ensembl:ENST00000393167) - c.353A>C (Ensembl:ENST00000393167) - p.Glu118Ala (Ensembl:ENST00000393166) - c.353A>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs80006029 | 119 | L>F | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113640951C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640951C>T Locations: - p.Leu119Phe (Ensembl:ENST00000393167) - c.355C>T (Ensembl:ENST00000393167) - p.Leu119Phe (Ensembl:ENST00000393166) - c.355C>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs773389410 | 120 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113640954C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640954C>G Locations: - p.Arg120Gly (Ensembl:ENST00000393167) - c.358C>G (Ensembl:ENST00000393167) - p.Arg120Gly (Ensembl:ENST00000393166) - c.358C>G (Ensembl:ENST00000393166) Source type: large scale study | |||||||
COSV104693312 rs564553154 | 120 | R>Q | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.637) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000002.12:g.113640955G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640955G>A Locations: - p.Arg120Gln (Ensembl:ENST00000393166) - c.359G>A (Ensembl:ENST00000393166) - p.Arg120Gln (Ensembl:ENST00000393167) - c.359G>A (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
COSV64573141 rs773389410 | 120 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00001195 (gnomAD) Accession: NC_000002.12:g.113640954C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640954C>T Locations: - p.R120W (NCI-TCGA:ENST00000393167) - p.R120W (NCI-TCGA:ENST00000393166) - p.Arg120Trp (Ensembl:ENST00000393167) - c.358C>T (Ensembl:ENST00000393167) - p.Arg120Trp (Ensembl:ENST00000393166) - c.358C>T (Ensembl:ENST00000393166) Source type: large scale study | |||||||
rs1684909181 | 122 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.106) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.113640960T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640960T>C Locations: - p.Phe122Leu (Ensembl:ENST00000393166) - c.364T>C (Ensembl:ENST00000393166) - p.Phe122Leu (Ensembl:ENST00000393167) - c.364T>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1172430466 | 122 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.106) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.113640962C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640962C>A Locations: - p.Phe122Leu (Ensembl:ENST00000393167) - c.366C>A (Ensembl:ENST00000393167) - p.Phe122Leu (Ensembl:ENST00000393166) - c.366C>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1050229544 | 122 | F>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000002.12:g.113640961T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640961T>C Locations: - p.Phe122Ser (Ensembl:ENST00000393167) - c.365T>C (Ensembl:ENST00000393167) - p.Phe122Ser (Ensembl:ENST00000393166) - c.365T>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV64572854 | 123 | R>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000002.12:g.113640963A>G Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640963A>G Locations: - p.R123G (NCI-TCGA:ENST00000393166) - p.Arg123Gly (cosmic curated:ENST00000393166) - c.367A>G (cosmic curated:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs766677063 | 123 | R>T | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113640964G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640964G>C Locations: - p.Arg123Thr (Ensembl:ENST00000393167) - c.368G>C (Ensembl:ENST00000393167) - p.Arg123Thr (Ensembl:ENST00000393166) - c.368G>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
TCGA novel | 125 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000002.12:g.113640971G>T Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640971G>T Locations: - c.375G>T (NCI-TCGA:ENST00000393166) - p.E125D (NCI-TCGA:ENST00000393166) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100905638 | 127 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.113640975C>T Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640975C>T Locations: - p.P127S (NCI-TCGA:ENST00000393166) - p.Pro127Ser (cosmic curated:ENST00000393166) - c.379C>T (cosmic curated:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1684911729 | 128 | C>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.454) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113640978T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640978T>A Locations: - p.Cys128Ser (Ensembl:ENST00000393167) - c.382T>A (Ensembl:ENST00000393167) - p.Cys128Ser (Ensembl:ENST00000393166) - c.382T>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV64572768 rs1684912538 | 129 | I>V | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.18) Somatic: Yes Accession: NC_000002.12:g.113640981A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640981A>G Locations: - p.Ile129Val (Ensembl:ENST00000393167) - c.385A>G (Ensembl:ENST00000393167) - p.Ile129Val (Ensembl:ENST00000393166) - c.385A>G (Ensembl:ENST00000393166) Source type: large scale study | |||||||
COSV108222201 rs760020796 | 130 | V>M | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.84) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.113640984G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640984G>A Locations: - p.Val130Met (Ensembl:ENST00000393167) - c.388G>A (Ensembl:ENST00000393167) - p.Val130Met (Ensembl:ENST00000393166) - c.388G>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1299169175 | 132 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113640990G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640990G>C Locations: - p.Ala132Pro (Ensembl:ENST00000393167) - c.394G>C (Ensembl:ENST00000393167) - p.Ala132Pro (Ensembl:ENST00000393166) - c.394G>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV64573109 rs1299169175 | 132 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.113640990G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640990G>A Locations: - p.A132T (NCI-TCGA:ENST00000393167) - p.A132T (NCI-TCGA:ENST00000393166) - p.Ala132Thr (Ensembl:ENST00000393167) - c.394G>A (Ensembl:ENST00000393167) - p.Ala132Thr (Ensembl:ENST00000393166) - c.394G>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1684916157 | 132 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.113640991C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640991C>T Locations: - p.Ala132Val (Ensembl:ENST00000393167) - c.395C>T (Ensembl:ENST00000393167) - p.Ala132Val (Ensembl:ENST00000393166) - c.395C>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs767903508 | 133 | N>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113640994A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640994A>G Locations: - p.Asn133Ser (Ensembl:ENST00000393167) - c.398A>G (Ensembl:ENST00000393167) - p.Asn133Ser (Ensembl:ENST00000393166) - c.398A>G (Ensembl:ENST00000393166) Source type: large scale study | |||||||
rs753446719 | 134 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113640997A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113640997A>G Locations: - p.Lys134Arg (Ensembl:ENST00000393166) - c.401A>G (Ensembl:ENST00000393166) - p.Lys134Arg (Ensembl:ENST00000393167) - c.401A>G (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs1684919482 | 135 | I>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641000T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641000T>G Locations: - p.Ile135Ser (Ensembl:ENST00000393167) - c.404T>G (Ensembl:ENST00000393167) - p.Ile135Ser (Ensembl:ENST00000393166) - c.404T>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs368479600 | 137 | D>A | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.113641356A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641356A>C Locations: - p.Asp137Ala (Ensembl:ENST00000393166) - c.410A>C (Ensembl:ENST00000393166) - p.Asp137Ala (Ensembl:ENST00000393167) - c.410A>C (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs892094333 | 137 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.871) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000002.12:g.113641005G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641005G>A Locations: - p.Asp137Asn (Ensembl:ENST00000393166) - c.409G>A (Ensembl:ENST00000393166) - p.Asp137Asn (Ensembl:ENST00000393167) - c.409G>A (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs766128373 | 138 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.113641358A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641358A>G Locations: - p.Ile138Val (Ensembl:ENST00000393166) - c.412A>G (Ensembl:ENST00000393166) - p.Ile138Val (Ensembl:ENST00000393167) - c.412A>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs371388814 | 140 | V>M | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.524) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000002.12:g.113641364G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641364G>A Locations: - p.Val140Met (Ensembl:ENST00000393166) - c.418G>A (Ensembl:ENST00000393166) - p.Val140Met (Ensembl:ENST00000393167) - c.418G>A (Ensembl:ENST00000393167) Source type: large scale study | |||||||
TCGA novel | 141 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113641367A>G Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641367A>G Locations: - c.421A>G (NCI-TCGA:ENST00000393166) - p.T141A (NCI-TCGA:ENST00000393166) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1445867247 | 141 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113641368C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641368C>T Locations: - p.Thr141Ile (Ensembl:ENST00000393167) - c.422C>T (Ensembl:ENST00000393167) - p.Thr141Ile (Ensembl:ENST00000393166) - c.422C>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs781218833 | 142 | Q>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.45) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641371A>T Codon: CAA/CTA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641371A>T Locations: - p.Gln142Leu (Ensembl:ENST00000393167) - c.425A>T (Ensembl:ENST00000393167) - p.Gln142Leu (Ensembl:ENST00000393166) - c.425A>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV64573484 | 143 | K>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.113641373A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.113641373A>C Locations: - p.Lys143Gln (cosmic curated:ENST00000393166) - c.427A>C (cosmic curated:ENST00000393166) - p.Lys143Gln (cosmic curated:ENST00000393167) - c.427A>C (cosmic curated:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1574130392 | 144 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.113641376A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641376A>G Locations: - p.Ser144Gly (Ensembl:ENST00000393166) - c.430A>G (Ensembl:ENST00000393166) - p.Ser144Gly (Ensembl:ENST00000393167) - c.430A>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1173878678 | 144 | S>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.878) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641377G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641377G>T Locations: - p.Ser144Ile (Ensembl:ENST00000393167) - c.431G>T (Ensembl:ENST00000393167) - p.Ser144Ile (Ensembl:ENST00000393166) - c.431G>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1173878678 | 144 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000002.12:g.113641377G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641377G>C Locations: - p.Ser144Thr (Ensembl:ENST00000393167) - c.431G>C (Ensembl:ENST00000393167) - p.Ser144Thr (Ensembl:ENST00000393166) - c.431G>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV64573336 | 145 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000002.12:g.113641381C>G Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641381C>G Locations: - p.F145L (NCI-TCGA:ENST00000393166) - p.Phe145Leu (cosmic curated:ENST00000393166) - c.435C>G (cosmic curated:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1419030821 | 145 | F>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641379T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641379T>G Locations: - p.Phe145Val (Ensembl:ENST00000393166) - c.433T>G (Ensembl:ENST00000393166) - p.Phe145Val (Ensembl:ENST00000393167) - c.433T>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs747984799 | 146 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000002.12:g.113641383A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641383A>G Locations: - p.Asn146Ser (Ensembl:ENST00000393166) - c.437A>G (Ensembl:ENST00000393166) - p.Asn146Ser (Ensembl:ENST00000393167) - c.437A>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs747984799 | 146 | N>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113641383A>C Codon: AAT/ACT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641383A>C Locations: - p.Asn146Thr (Ensembl:ENST00000393167) - c.437A>C (Ensembl:ENST00000393167) - p.Asn146Thr (Ensembl:ENST00000393166) - c.437A>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs2104855609 | 147 | F>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641385T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641385T>G Locations: - p.Phe147Val (Ensembl:ENST00000393166) - c.439T>G (Ensembl:ENST00000393166) - p.Phe147Val (Ensembl:ENST00000393167) - c.439T>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1163422353 | 148 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.294) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.113641388G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641388G>T Locations: - p.Ala148Ser (Ensembl:ENST00000393167) - c.442G>T (Ensembl:ENST00000393167) - p.Ala148Ser (Ensembl:ENST00000393166) - c.442G>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1163422353 | 148 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.6) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.113641388G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641388G>A Locations: - p.Ala148Thr (Ensembl:ENST00000393167) - c.442G>A (Ensembl:ENST00000393167) - p.Ala148Thr (Ensembl:ENST00000393166) - c.442G>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
TCGA novel | 149 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.653) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.113641393G>T Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641393G>T Locations: - c.447G>T (NCI-TCGA:ENST00000393166) - p.K149N (NCI-TCGA:ENST00000393166) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1685106742 | 150 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.637) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641394A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641394A>G Locations: - p.Lys150Glu (Ensembl:ENST00000393167) - c.448A>G (Ensembl:ENST00000393167) - p.Lys150Glu (Ensembl:ENST00000393166) - c.448A>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1685107440 | 150 | K>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113641395A>T Codon: AAG/ATG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641395A>T Locations: - p.Lys150Met (Ensembl:ENST00000393166) - c.449A>T (Ensembl:ENST00000393166) - p.Lys150Met (Ensembl:ENST00000393167) - c.449A>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs749362887 | 152 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.73) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641401C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641401C>T Locations: - p.Ser152Phe (Ensembl:ENST00000393166) - c.455C>T (Ensembl:ENST00000393166) - p.Ser152Phe (Ensembl:ENST00000393167) - c.455C>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
COSV64573508 rs921286408 | 152 | S>P | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.54) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000002.12:g.113641400T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641400T>C Locations: - p.Ser152Pro (Ensembl:ENST00000393166) - c.454T>C (Ensembl:ENST00000393166) - p.Ser152Pro (Ensembl:ENST00000393167) - c.454T>C (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs1271641432 | 153 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641404T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641404T>C Locations: - p.Leu153Pro (Ensembl:ENST00000393166) - c.458T>C (Ensembl:ENST00000393166) - p.Leu153Pro (Ensembl:ENST00000393167) - c.458T>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1271641432 | 153 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641404T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641404T>G Locations: - p.Leu153Arg (Ensembl:ENST00000393166) - c.458T>G (Ensembl:ENST00000393166) - p.Leu153Arg (Ensembl:ENST00000393167) - c.458T>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1360197146 | 154 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.843) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641406C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641406C>T Locations: - p.Pro154Ser (Ensembl:ENST00000393167) - c.460C>T (Ensembl:ENST00000393167) - p.Pro154Ser (Ensembl:ENST00000393166) - c.460C>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1360197146 | 154 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.843) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113641406C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641406C>A Locations: - p.Pro154Thr (Ensembl:ENST00000393166) - c.460C>A (Ensembl:ENST00000393166) - p.Pro154Thr (Ensembl:ENST00000393167) - c.460C>A (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1685117369 | 156 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113641413A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641413A>G Locations: - p.Tyr156Cys (Ensembl:ENST00000393167) - c.467A>G (Ensembl:ENST00000393167) - p.Tyr156Cys (Ensembl:ENST00000393166) - c.467A>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1335249556 | 156 | Y>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641412T>G Codon: TAT/GAT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641412T>G Locations: - p.Tyr156Asp (Ensembl:ENST00000393167) - c.466T>G (Ensembl:ENST00000393167) - p.Tyr156Asp (Ensembl:ENST00000393166) - c.466T>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs146837516 | 158 | V>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.641) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.113641419T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641419T>C Locations: - p.Val158Ala (Ensembl:ENST00000393167) - c.473T>C (Ensembl:ENST00000393167) - p.Val158Ala (Ensembl:ENST00000393166) - c.473T>C (Ensembl:ENST00000393166) Source type: large scale study | |||||||
rs146837516 | 158 | V>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641419T>A Codon: GTC/GAC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641419T>A Locations: - p.Val158Asp (Ensembl:ENST00000393166) - c.473T>A (Ensembl:ENST00000393166) - p.Val158Asp (Ensembl:ENST00000393167) - c.473T>A (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs200121688 | 158 | V>F | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641418G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641418G>T Locations: - p.Val158Phe (Ensembl:ENST00000393166) - c.472G>T (Ensembl:ENST00000393166) - p.Val158Phe (Ensembl:ENST00000393167) - c.472G>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
COSV104427112 rs200121688 | 158 | V>I | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.113641418G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641418G>A Locations: - p.Val158Ile (Ensembl:ENST00000393166) - c.472G>A (Ensembl:ENST00000393166) - p.Val158Ile (Ensembl:ENST00000393167) - c.472G>A (Ensembl:ENST00000393167) Source type: large scale study | |||||||
COSV100905721 rs761032873 | 159 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00001989 (gnomAD) Accession: NC_000002.12:g.113641422C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641422C>T Locations: - p.S159L (NCI-TCGA:ENST00000393167) - p.S159L (NCI-TCGA:ENST00000393166) - p.Ser159Leu (Ensembl:ENST00000393166) - c.476C>T (Ensembl:ENST00000393166) - p.Ser159Leu (Ensembl:ENST00000393167) - c.476C>T (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs1257712513 | 160 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113641424G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641424G>T Locations: - p.Ala160Ser (Ensembl:ENST00000393167) - c.478G>T (Ensembl:ENST00000393167) - p.Ala160Ser (Ensembl:ENST00000393166) - c.478G>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs762543699 | 160 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641425C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641425C>T Locations: - p.Ala160Val (Ensembl:ENST00000393167) - c.479C>T (Ensembl:ENST00000393167) - p.Ala160Val (Ensembl:ENST00000393166) - c.479C>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV64573584 | 162 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.113641430G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.113641430G>A Locations: - p.Asp162Asn (cosmic curated:ENST00000393167) - c.484G>A (cosmic curated:ENST00000393167) - p.Asp162Asn (cosmic curated:ENST00000393166) - c.484G>A (cosmic curated:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV100905717 | 165 | N>K | 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_000002.12:g.113641441T>A Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641441T>A Locations: - p.N165K (NCI-TCGA:ENST00000393166) - p.Asn165Lys (cosmic curated:ENST00000393166) - c.495T>A (cosmic curated:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs766165582 | 165 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113641440A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641440A>G Locations: - p.Asn165Ser (Ensembl:ENST00000393166) - c.494A>G (Ensembl:ENST00000393166) - p.Asn165Ser (Ensembl:ENST00000393167) - c.494A>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1304066063 | 167 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641445G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641445G>A Locations: - p.Val167Met (Ensembl:ENST00000393167) - c.499G>A (Ensembl:ENST00000393167) - p.Val167Met (Ensembl:ENST00000393166) - c.499G>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1274606139 | 171 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000002.12:g.113641788A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641788A>G Locations: - p.Asn171Ser (Ensembl:ENST00000393167) - c.512A>G (Ensembl:ENST00000393167) - p.Asn171Ser (Ensembl:ENST00000393166) - c.512A>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1223034952 | 172 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.376) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113641790G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641790G>A Locations: - p.Asp172Asn (Ensembl:ENST00000393167) - c.514G>A (Ensembl:ENST00000393167) - p.Asp172Asn (Ensembl:ENST00000393166) - c.514G>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1438759043 | 174 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113641797T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641797T>C Locations: - p.Ile174Thr (Ensembl:ENST00000393167) - c.521T>C (Ensembl:ENST00000393167) - p.Ile174Thr (Ensembl:ENST00000393166) - c.521T>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1685297791 | 174 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.781) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000002.12:g.113641796A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641796A>G Locations: - p.Ile174Val (Ensembl:ENST00000393167) - c.520A>G (Ensembl:ENST00000393167) - p.Ile174Val (Ensembl:ENST00000393166) - c.520A>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV100905662 rs759040194 | 175 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00004427 (gnomAD) Accession: NC_000002.12:g.113641799C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641799C>T Locations: - p.R175* (NCI-TCGA:ENST00000393167) - p.R175* (NCI-TCGA:ENST00000393166) - p.Arg175Ter (Ensembl:ENST00000393166) - c.523C>T (Ensembl:ENST00000393166) - p.Arg175Ter (Ensembl:ENST00000393167) - c.523C>T (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs759040194 | 175 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113641799C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641799C>G Locations: - p.Arg175Gly (Ensembl:ENST00000393166) - c.523C>G (Ensembl:ENST00000393166) - p.Arg175Gly (Ensembl:ENST00000393167) - c.523C>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs946609911 | 175 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.00001099 (gnomAD) Accession: NC_000002.12:g.113641800G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641800G>A Locations: - p.R175Q (NCI-TCGA:ENST00000393167) - p.R175Q (NCI-TCGA:ENST00000393166) - p.Arg175Gln (Ensembl:ENST00000393167) - c.524G>A (Ensembl:ENST00000393167) - p.Arg175Gln (Ensembl:ENST00000393166) - c.524G>A (Ensembl:ENST00000393166) Source type: large scale study | |||||||
rs1394548559 | 177 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641805G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641805G>A Locations: - p.Ala177Thr (Ensembl:ENST00000393167) - c.529G>A (Ensembl:ENST00000393167) - p.Ala177Thr (Ensembl:ENST00000393166) - c.529G>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1477193684 | 177 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641806C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641806C>T Locations: - p.Ala177Val (Ensembl:ENST00000393166) - c.530C>T (Ensembl:ENST00000393166) - p.Ala177Val (Ensembl:ENST00000393167) - c.530C>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1354347084 | 178 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.309) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113641809T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641809T>C Locations: - p.Val178Ala (Ensembl:ENST00000393166) - c.533T>C (Ensembl:ENST00000393166) - p.Val178Ala (Ensembl:ENST00000393167) - c.533T>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs926528606 | 179 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.73) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641812C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641812C>T Locations: - p.Ser179Phe (Ensembl:ENST00000393167) - c.536C>T (Ensembl:ENST00000393167) - p.Ser179Phe (Ensembl:ENST00000393166) - c.536C>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1416030374 | 180 | Y>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.113641816C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641816C>G Locations: - p.Tyr180Ter (Ensembl:ENST00000393166) - c.540C>G (Ensembl:ENST00000393166) - p.Tyr180Ter (Ensembl:ENST00000393167) - c.540C>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1685307894 | 181 | K>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.82) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641817A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641817A>C Locations: - p.Lys181Gln (Ensembl:ENST00000393166) - c.541A>C (Ensembl:ENST00000393166) - p.Lys181Gln (Ensembl:ENST00000393167) - c.541A>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1685309506 | 181 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.499) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.113641818A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641818A>G Locations: - p.Lys181Arg (Ensembl:ENST00000393167) - c.542A>G (Ensembl:ENST00000393167) - p.Lys181Arg (Ensembl:ENST00000393166) - c.542A>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1157506987 | 185 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.113641829C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641829C>T Locations: - p.Gln185Ter (Ensembl:ENST00000393167) - c.553C>T (Ensembl:ENST00000393167) - p.Gln185Ter (Ensembl:ENST00000393166) - c.553C>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1157506987 | 185 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.113641829C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641829C>G Locations: - p.Gln185Glu (Ensembl:ENST00000393167) - c.553C>G (Ensembl:ENST00000393167) - p.Gln185Glu (Ensembl:ENST00000393166) - c.553C>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1685312042 | 186 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641832G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641832G>A Locations: - p.Asp186Asn (Ensembl:ENST00000393167) - c.556G>A (Ensembl:ENST00000393167) - p.Asp186Asn (Ensembl:ENST00000393166) - c.556G>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1420415060 | 186 | D>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641833A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641833A>T Locations: - p.Asp186Val (Ensembl:ENST00000393167) - c.557A>T (Ensembl:ENST00000393167) - p.Asp186Val (Ensembl:ENST00000393166) - c.557A>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1685313691 | 188 | M>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.656) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641839T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641839T>G Locations: - p.Met188Arg (Ensembl:ENST00000393166) - c.563T>G (Ensembl:ENST00000393166) - p.Met188Arg (Ensembl:ENST00000393167) - c.563T>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1685313691 | 188 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.113641839T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641839T>C Locations: - p.Met188Thr (Ensembl:ENST00000393166) - c.563T>C (Ensembl:ENST00000393166) - p.Met188Thr (Ensembl:ENST00000393167) - c.563T>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1410357942 | 190 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.854) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641845A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641845A>G Locations: - p.Glu190Gly (Ensembl:ENST00000393167) - c.569A>G (Ensembl:ENST00000393167) - p.Glu190Gly (Ensembl:ENST00000393166) - c.569A>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs767193008 | 194 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113641858G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641858G>C Locations: - p.Glu194Asp (Ensembl:ENST00000393167) - c.582G>C (Ensembl:ENST00000393167) - p.Glu194Asp (Ensembl:ENST00000393166) - c.582G>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs557435993 | 195 | L>I | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.113641859C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641859C>A Locations: - p.Leu195Ile (Ensembl:ENST00000393167) - c.583C>A (Ensembl:ENST00000393167) - p.Leu195Ile (Ensembl:ENST00000393166) - c.583C>A (Ensembl:ENST00000393166) Source type: large scale study | |||||||
COSV100905694 rs760440955 | 196 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: Yes Population frequencies: - MAF: 0.00003262 (gnomAD) Accession: NC_000002.12:g.113641862G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113641862G>A Locations: - p.E196K (NCI-TCGA:ENST00000393167) - p.E196K (NCI-TCGA:ENST00000393166) - p.Glu196Lys (Ensembl:ENST00000393167) - c.586G>A (Ensembl:ENST00000393167) - p.Glu196Lys (Ensembl:ENST00000393166) - c.586G>A (Ensembl:ENST00000393166) Source type: large scale study | |||||||
rs765220270 | 198 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.113642034T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642034T>C Locations: - p.Phe198Leu (Ensembl:ENST00000393166) - c.592T>C (Ensembl:ENST00000393166) - p.Phe198Leu (Ensembl:ENST00000393167) - c.592T>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs758487444 | 199 | S>I | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113642038G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642038G>T Locations: - p.Ser199Ile (Ensembl:ENST00000393166) - c.596G>T (Ensembl:ENST00000393166) - p.Ser199Ile (Ensembl:ENST00000393167) - c.596G>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1285011601 | 201 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000002.12:g.113642044A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642044A>G Locations: - p.Glu201Gly (Ensembl:ENST00000393167) - c.602A>G (Ensembl:ENST00000393167) - p.Glu201Gly (Ensembl:ENST00000393166) - c.602A>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1285011601 | 201 | E>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.113642044A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642044A>T Locations: - p.Glu201Val (Ensembl:ENST00000393166) - c.602A>T (Ensembl:ENST00000393166) - p.Glu201Val (Ensembl:ENST00000393167) - c.602A>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1685409029 | 202 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.113642046C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642046C>T Locations: - p.Gln202Ter (Ensembl:ENST00000393166) - c.604C>T (Ensembl:ENST00000393166) - p.Gln202Ter (Ensembl:ENST00000393167) - c.604C>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1352917305 | 204 | E>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000002.12:g.113642053A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642053A>T Locations: - p.Glu204Val (Ensembl:ENST00000393167) - c.611A>T (Ensembl:ENST00000393167) - p.Glu204Val (Ensembl:ENST00000393166) - c.611A>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1208102753 | 205 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000002.12:g.113642057G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642057G>C Locations: - p.Glu205Asp (Ensembl:ENST00000393166) - c.615G>C (Ensembl:ENST00000393166) - p.Glu205Asp (Ensembl:ENST00000393167) - c.615G>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1685410745 | 205 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000002.12:g.113642055G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642055G>A Locations: - p.Glu205Lys (Ensembl:ENST00000393166) - c.613G>A (Ensembl:ENST00000393166) - p.Glu205Lys (Ensembl:ENST00000393167) - c.613G>A (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
COSV100905618 rs751779979 | 207 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.22) Somatic: Yes Population frequencies: - MAF: 0.00002398 (gnomAD) Accession: NC_000002.12:g.113642061G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642061G>A Locations: - p.V207M (NCI-TCGA:ENST00000393167) - p.V207M (NCI-TCGA:ENST00000393166) - p.Val207Met (Ensembl:ENST00000393167) - c.619G>A (Ensembl:ENST00000393167) - p.Val207Met (Ensembl:ENST00000393166) - c.619G>A (Ensembl:ENST00000393166) Source type: large scale study | |||||||
rs755402912 | 209 | D>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000002.12:g.113642068A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642068A>C Locations: - p.Asp209Ala (Ensembl:ENST00000393166) - c.626A>C (Ensembl:ENST00000393166) - p.Asp209Ala (Ensembl:ENST00000393167) - c.626A>C (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs781633372 | 211 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000002.12:g.113642073G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642073G>C Locations: - p.Glu211Gln (Ensembl:ENST00000393167) - c.631G>C (Ensembl:ENST00000393167) - p.Glu211Gln (Ensembl:ENST00000393166) - c.631G>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs748515127 | 212 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.83) Somatic: No Accession: NC_000002.12:g.113642076C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642076C>G Locations: - p.Gln212Glu (Ensembl:ENST00000393166) - c.634C>G (Ensembl:ENST00000393166) - p.Gln212Glu (Ensembl:ENST00000393167) - c.634C>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1685418191 | 212 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000002.12:g.113642077A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642077A>G Locations: - p.Gln212Arg (Ensembl:ENST00000393167) - c.635A>G (Ensembl:ENST00000393167) - p.Gln212Arg (Ensembl:ENST00000393166) - c.635A>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1685419013 | 213 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000002.12:g.113642079A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642079A>G Locations: - p.Ser213Gly (Ensembl:ENST00000393166) - c.637A>G (Ensembl:ENST00000393166) - p.Ser213Gly (Ensembl:ENST00000393167) - c.637A>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1367868174 | 213 | S>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.113642080G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642080G>T Locations: - p.Ser213Ile (Ensembl:ENST00000393167) - c.638G>T (Ensembl:ENST00000393167) - p.Ser213Ile (Ensembl:ENST00000393166) - c.638G>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1384876833 | 214 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000002.12:g.113642083G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642083G>T Locations: - p.Ser214Ile (Ensembl:ENST00000393167) - c.641G>T (Ensembl:ENST00000393167) - p.Ser214Ile (Ensembl:ENST00000393166) - c.641G>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1685422169 | 216 | I>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000002.12:g.113642088A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642088A>T Locations: - p.Ile216Phe (Ensembl:ENST00000393166) - c.646A>T (Ensembl:ENST00000393166) - p.Ile216Phe (Ensembl:ENST00000393167) - c.646A>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1159859126 | 216 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.55) Somatic: No Accession: NC_000002.12:g.113642089T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642089T>C Locations: - p.Ile216Thr (Ensembl:ENST00000393166) - c.647T>C (Ensembl:ENST00000393166) - p.Ile216Thr (Ensembl:ENST00000393167) - c.647T>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs529219181 | 217 | E>D | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000002.12:g.113642093G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642093G>C Locations: - p.Glu217Asp (Ensembl:ENST00000393166) - c.651G>C (Ensembl:ENST00000393166) - p.Glu217Asp (Ensembl:ENST00000393167) - c.651G>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs142229156 | 217 | E>K | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000002.12:g.113642091G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642091G>A Locations: - p.Glu217Lys (Ensembl:ENST00000393166) - c.649G>A (Ensembl:ENST00000393166) - p.Glu217Lys (Ensembl:ENST00000393167) - c.649G>A (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs775146334 | 218 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.113642095C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642095C>T Locations: - p.Thr218Ile (Ensembl:ENST00000393167) - c.653C>T (Ensembl:ENST00000393167) - p.Thr218Ile (Ensembl:ENST00000393166) - c.653C>T (Ensembl:ENST00000393166) Source type: large scale study | |||||||
rs775146334 | 218 | T>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000002.12:g.113642095C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642095C>A Locations: - p.Thr218Asn (Ensembl:ENST00000393167) - c.653C>A (Ensembl:ENST00000393167) - p.Thr218Asn (Ensembl:ENST00000393166) - c.653C>A (Ensembl:ENST00000393166) Source type: large scale study | |||||||
rs145983331 | 218 | T>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.113642094A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642094A>T Locations: - p.Thr218Ser (Ensembl:ENST00000393167) - c.652A>T (Ensembl:ENST00000393167) - p.Thr218Ser (Ensembl:ENST00000393166) - c.652A>T (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs760263302 | 219 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.113642097C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642097C>G Locations: - p.Pro219Ala (Ensembl:ENST00000393167) - c.655C>G (Ensembl:ENST00000393167) - p.Pro219Ala (Ensembl:ENST00000393166) - c.655C>G (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs148857018 | 219 | P>L | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000002.12:g.113642098C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642098C>T Locations: - p.Pro219Leu (Ensembl:ENST00000393166) - c.656C>T (Ensembl:ENST00000393166) - p.Pro219Leu (Ensembl:ENST00000393167) - c.656C>T (Ensembl:ENST00000393167) Source type: large scale study | |||||||
rs141631881 | 220 | S>* | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.113642101C>A Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642101C>A Locations: - p.Ser220Ter (Ensembl:ENST00000393167) - c.659C>A (Ensembl:ENST00000393167) - p.Ser220Ter (Ensembl:ENST00000393166) - c.659C>A (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV64573270 | 220 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.307) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000002.12:g.113642101C>T Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642101C>T Locations: - p.S220L (NCI-TCGA:ENST00000393166) - p.Ser220Leu (cosmic curated:ENST00000393166) - c.659C>T (cosmic curated:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1685430604 | 220 | S>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000002.12:g.113642100T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642100T>C Locations: - p.Ser220Pro (Ensembl:ENST00000393167) - c.658T>C (Ensembl:ENST00000393167) - p.Ser220Pro (Ensembl:ENST00000393166) - c.658T>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
TCGA novel | 221 | E>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.292) - SIFT: tolerated - low confidence (0.6) Somatic: No Accession: NC_000002.12:g.113642104A>C Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642104A>C Locations: - c.662A>C (NCI-TCGA:ENST00000393166) - p.E221A (NCI-TCGA:ENST00000393166) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV64573043 rs1277457365 | 221 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.217) - SIFT: tolerated - low confidence (0.45) - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.23) Somatic: Yes Accession: NC_000002.12:g.113642105G>T, NC_000002.12:g.113642105G>C Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642105G>T, NC_000002.12:g.113642105G>C Locations: - p.E221D (NCI-TCGA:ENST00000393166) - p.Glu221Asp (cosmic curated:ENST00000393166) - c.663G>T (cosmic curated:ENST00000393166) - p.Glu221Asp (Ensembl:ENST00000393166) - c.663G>C (Ensembl:ENST00000393166) - p.Glu221Asp (Ensembl:ENST00000393167) - c.663G>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
COSV64572756 | 222 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.113642106G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.113642106G>T Locations: - p.Glu222Ter (cosmic curated:ENST00000393167) - c.664G>T (cosmic curated:ENST00000393167) - p.Glu222Ter (cosmic curated:ENST00000393166) - c.664G>T (cosmic curated:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1685433806 | 222 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.42) Somatic: No Accession: NC_000002.12:g.113642108G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642108G>C Locations: - p.Glu222Asp (Ensembl:ENST00000393167) - c.666G>C (Ensembl:ENST00000393167) - p.Glu222Asp (Ensembl:ENST00000393166) - c.666G>C (Ensembl:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs776478995 | 222 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000002.12:g.113642106G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642106G>A Locations: - p.Glu222Lys (Ensembl:ENST00000393166) - c.664G>A (Ensembl:ENST00000393166) - p.Glu222Lys (Ensembl:ENST00000393167) - c.664G>A (Ensembl:ENST00000393167) Source type: large scale study | |||||||
COSV64572762 rs2519478 | 223 | V>A | cosmic curated 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.89) Somatic: Yes Accession: NC_000002.12:g.113642110T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642110T>C Locations: - p.Val223Ala (Ensembl:ENST00000393166) - c.668T>C (Ensembl:ENST00000393166) - p.Val223Ala (Ensembl:ENST00000393167) - c.668T>C (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1574144963 | 224 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000002.12:g.113642112G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642112G>A Locations: - p.Ala224Thr (Ensembl:ENST00000393166) - c.670G>A (Ensembl:ENST00000393166) - p.Ala224Thr (Ensembl:ENST00000393167) - c.670G>A (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
COSV100905692 | 226 | P>H | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.113642119C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.113642119C>A Locations: - p.Pro226His (cosmic curated:ENST00000393166) - c.677C>A (cosmic curated:ENST00000393166) - p.Pro226His (cosmic curated:ENST00000393167) - c.677C>A (cosmic curated:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1353095943 | 226 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000002.12:g.113642118C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642118C>T Locations: - p.Pro226Ser (Ensembl:ENST00000393166) - c.676C>T (Ensembl:ENST00000393166) - p.Pro226Ser (Ensembl:ENST00000393167) - c.676C>T (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
COSV100905609 | 226 | P>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.113642118C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000002.12:g.113642118C>A Locations: - p.Pro226Thr (cosmic curated:ENST00000393167) - c.676C>A (cosmic curated:ENST00000393167) - p.Pro226Thr (cosmic curated:ENST00000393166) - c.676C>A (cosmic curated:ENST00000393166) Source type: large scale study Cross-references: | |||||||
COSV100905609 | 227 | H>T | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: frameshift Somatic: Yes Accession: NC_000002.12:g.113642118del Consequence type: frameshift Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642118del Locations: - c.679del (NCI-TCGA:ENST00000393166) - p.H227Tfs*10 (NCI-TCGA:ENST00000393166) Source type: large scale study Cross-references: | |||||||
rs1371486162 | 228 | S>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000002.12:g.113642126C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642126C>G Locations: - p.Ser228Arg (Ensembl:ENST00000393166) - c.684C>G (Ensembl:ENST00000393166) - p.Ser228Arg (Ensembl:ENST00000393167) - c.684C>G (Ensembl:ENST00000393167) Source type: large scale study Cross-references: | |||||||
rs1214490299 | 229 | *>= | gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000002.12:g.113642128del Codon: TGA/TA Consequence type: stop lost Cytogenetic band: 2q14.1 Genomic location: NC_000002.12:g.113642128del Locations: - p.Ter229= (Ensembl:ENST00000393166) - c.686del (Ensembl:ENST00000393166) - p.Ter229= (Ensembl:ENST00000393167) - c.686del (Ensembl:ENST00000393167) Source type: large scale study Cross-references: |