P09466 · PAEP_HUMAN
- ProteinGlycodelin
- GenePAEP
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids180 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs2119019136 | 2 | L>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000009.12:g.135561806T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561806T>A Locations: - p.Leu2Gln (Ensembl:ENST00000371766) - c.5T>A (Ensembl:ENST00000371766) - p.Leu2Gln (Ensembl:ENST00000277508) - c.5T>A (Ensembl:ENST00000277508) - p.Leu2Gln (Ensembl:ENST00000479141) - c.5T>A (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1461527722 | 3 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135561808T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561808T>C Locations: - p.Cys3Arg (Ensembl:ENST00000479141) - c.7T>C (Ensembl:ENST00000479141) - p.Cys3Arg (Ensembl:ENST00000371766) - c.7T>C (Ensembl:ENST00000371766) - p.Cys3Arg (Ensembl:ENST00000277508) - c.7T>C (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1456695134 | 4 | L>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135561812T>A Codon: CTC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561812T>A Locations: - p.Leu4His (Ensembl:ENST00000277508) - c.11T>A (Ensembl:ENST00000277508) - p.Leu4His (Ensembl:ENST00000371766) - c.11T>A (Ensembl:ENST00000371766) - p.Leu4His (Ensembl:ENST00000479141) - c.11T>A (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs144674580 | 4 | L>I | ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135561811C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561811C>A Locations: - p.Leu4Ile (Ensembl:ENST00000371766) - c.10C>A (Ensembl:ENST00000371766) - p.Leu4Ile (Ensembl:ENST00000479141) - c.10C>A (Ensembl:ENST00000479141) - p.Leu4Ile (Ensembl:ENST00000277508) - c.10C>A (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs368806607 | 8 | L>P | ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135561824T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561824T>C Locations: - p.Leu8Pro (Ensembl:ENST00000479141) - c.23T>C (Ensembl:ENST00000479141) - p.Leu8Pro (Ensembl:ENST00000277508) - c.23T>C (Ensembl:ENST00000277508) - p.Leu8Pro (Ensembl:ENST00000371766) - c.23T>C (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs368806607 | 8 | L>Q | ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135561824T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561824T>A Locations: - p.Leu8Gln (Ensembl:ENST00000479141) - c.23T>A (Ensembl:ENST00000479141) - p.Leu8Gln (Ensembl:ENST00000277508) - c.23T>A (Ensembl:ENST00000277508) - p.Leu8Gln (Ensembl:ENST00000371766) - c.23T>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1832307257 | 9 | G>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135561827G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561827G>A Locations: - p.Gly9Asp (Ensembl:ENST00000479141) - c.26G>A (Ensembl:ENST00000479141) - p.Gly9Asp (Ensembl:ENST00000277508) - c.26G>A (Ensembl:ENST00000277508) - p.Gly9Asp (Ensembl:ENST00000371766) - c.26G>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs140018848 | 10 | V>L | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.135561829G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561829G>C Locations: - p.Val10Leu (Ensembl:ENST00000371766) - c.28G>C (Ensembl:ENST00000371766) - p.Val10Leu (Ensembl:ENST00000479141) - c.28G>C (Ensembl:ENST00000479141) - p.Val10Leu (Ensembl:ENST00000277508) - c.28G>C (Ensembl:ENST00000277508) Source type: large scale study | |||||||
rs140018848 | 10 | V>M | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000009.12:g.135561829G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561829G>A Locations: - p.Val10Met (Ensembl:ENST00000277508) - c.28G>A (Ensembl:ENST00000277508) - p.Val10Met (Ensembl:ENST00000371766) - c.28G>A (Ensembl:ENST00000371766) - p.Val10Met (Ensembl:ENST00000479141) - c.28G>A (Ensembl:ENST00000479141) Source type: large scale study | |||||||
rs1251335006 | 11 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.135561832G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561832G>A Locations: - p.Ala11Thr (Ensembl:ENST00000371766) - c.31G>A (Ensembl:ENST00000371766) - p.Ala11Thr (Ensembl:ENST00000277508) - c.31G>A (Ensembl:ENST00000277508) - p.Ala11Thr (Ensembl:ENST00000479141) - c.31G>A (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs866574713 | 11 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.135561833C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561833C>T Locations: - p.Ala11Val (Ensembl:ENST00000277508) - c.32C>T (Ensembl:ENST00000277508) - p.Ala11Val (Ensembl:ENST00000371766) - c.32C>T (Ensembl:ENST00000371766) - p.Ala11Val (Ensembl:ENST00000479141) - c.32C>T (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1832308618 | 12 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135561836T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561836T>C Locations: - p.Leu12Pro (Ensembl:ENST00000371766) - c.35T>C (Ensembl:ENST00000371766) - p.Leu12Pro (Ensembl:ENST00000277508) - c.35T>C (Ensembl:ENST00000277508) - p.Leu12Pro (Ensembl:ENST00000479141) - c.35T>C (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs758959776 | 13 | V>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135561838G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561838G>T Locations: - p.Val13Phe (Ensembl:ENST00000479141) - c.37G>T (Ensembl:ENST00000479141) - p.Val13Phe (Ensembl:ENST00000277508) - c.37G>T (Ensembl:ENST00000277508) - p.Val13Phe (Ensembl:ENST00000371766) - c.37G>T (Ensembl:ENST00000371766) Source type: large scale study | |||||||
rs758959776 | 13 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000009.12:g.135561838G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561838G>A Locations: - p.Val13Ile (Ensembl:ENST00000479141) - c.37G>A (Ensembl:ENST00000479141) - p.Val13Ile (Ensembl:ENST00000277508) - c.37G>A (Ensembl:ENST00000277508) - p.Val13Ile (Ensembl:ENST00000371766) - c.37G>A (Ensembl:ENST00000371766) Source type: large scale study | |||||||
rs1208229881 | 14 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135561842G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561842G>A Locations: - p.Cys14Tyr (Ensembl:ENST00000277508) - c.41G>A (Ensembl:ENST00000277508) - p.Cys14Tyr (Ensembl:ENST00000479141) - c.41G>A (Ensembl:ENST00000479141) - p.Cys14Tyr (Ensembl:ENST00000371766) - c.41G>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1207635245 | 15 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135561845G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561845G>T Locations: - p.Gly15Val (Ensembl:ENST00000371766) - c.44G>T (Ensembl:ENST00000371766) - p.Gly15Val (Ensembl:ENST00000277508) - c.44G>T (Ensembl:ENST00000277508) - p.Gly15Val (Ensembl:ENST00000479141) - c.44G>T (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs530680736 | 17 | P>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135561851C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561851C>T Locations: - p.Pro17Leu (Ensembl:ENST00000371766) - c.50C>T (Ensembl:ENST00000371766) - p.Pro17Leu (Ensembl:ENST00000479141) - c.50C>T (Ensembl:ENST00000479141) - p.Pro17Leu (Ensembl:ENST00000277508) - c.50C>T (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1038861398 | 17 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.65) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135561850C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561850C>T Locations: - p.Pro17Ser (Ensembl:ENST00000479141) - c.49C>T (Ensembl:ENST00000479141) - p.Pro17Ser (Ensembl:ENST00000277508) - c.49C>T (Ensembl:ENST00000277508) - p.Pro17Ser (Ensembl:ENST00000371766) - c.49C>T (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
COSV52986244 COSV52986244,COSV99057088 COSV99057088 | 18 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000009.12:g.135561854C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561854C>A Locations: - p.A18D (NCI-TCGA:ENST00000277508) - p.Ala18Asp (cosmic curated:ENST00000277508) - c.53C>A (cosmic curated:ENST00000277508) Source type: large scale study | |||||||
COSV52986244 COSV52986244,COSV99057088 COSV99057088 | 18 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000009.12:g.135561854C>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561854C>T Locations: - p.A18V (NCI-TCGA:ENST00000277508) - p.Ala18Val (cosmic curated:ENST00000277508) - c.53C>T (cosmic curated:ENST00000277508) Source type: large scale study | |||||||
rs1832310358 | 19 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000009.12:g.135561856A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561856A>G Locations: - p.Met19Val (Ensembl:ENST00000371766) - c.55A>G (Ensembl:ENST00000371766) - p.Met19Val (Ensembl:ENST00000277508) - c.55A>G (Ensembl:ENST00000277508) - p.Met19Val (Ensembl:ENST00000479141) - c.55A>G (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1428397069 | 20 | D>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000009.12:g.135561860A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561860A>T Locations: - p.Asp20Val (Ensembl:ENST00000371766) - c.59A>T (Ensembl:ENST00000371766) - p.Asp20Val (Ensembl:ENST00000277508) - c.59A>T (Ensembl:ENST00000277508) - p.Asp20Val (Ensembl:ENST00000479141) - c.59A>T (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1374802336 | 21 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.238) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135561863T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561863T>C Locations: - p.Ile21Thr (Ensembl:ENST00000371766) - c.62T>C (Ensembl:ENST00000371766) - p.Ile21Thr (Ensembl:ENST00000277508) - c.62T>C (Ensembl:ENST00000277508) - p.Ile21Thr (Ensembl:ENST00000479141) - c.62T>C (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1194015124 | 21 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.135561862A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561862A>G Locations: - p.Ile21Val (Ensembl:ENST00000277508) - c.61A>G (Ensembl:ENST00000277508) - p.Ile21Val (Ensembl:ENST00000371766) - c.61A>G (Ensembl:ENST00000371766) - p.Ile21Val (Ensembl:ENST00000479141) - c.61A>G (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
COSV106383352 rs1832311323 | 22 | P>L | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000009.12:g.135561866C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561866C>T Locations: - p.Pro22Leu (Ensembl:ENST00000479141) - c.65C>T (Ensembl:ENST00000479141) - p.Pro22Leu (Ensembl:ENST00000371766) - c.65C>T (Ensembl:ENST00000371766) - p.Pro22Leu (Ensembl:ENST00000277508) - c.65C>T (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1425037642 | 23 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.135561870G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561870G>C Locations: - p.Gln23His (Ensembl:ENST00000479141) - c.69G>C (Ensembl:ENST00000479141) - p.Gln23His (Ensembl:ENST00000371766) - c.69G>C (Ensembl:ENST00000371766) - p.Gln23His (Ensembl:ENST00000277508) - c.69G>C (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs781451209 | 23 | Q>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.586) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.135561868C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561868C>A Locations: - p.Gln23Lys (Ensembl:ENST00000479141) - c.67C>A (Ensembl:ENST00000479141) - p.Gln23Lys (Ensembl:ENST00000371766) - c.67C>A (Ensembl:ENST00000371766) - p.Gln23Lys (Ensembl:ENST00000277508) - c.67C>A (Ensembl:ENST00000277508) Source type: large scale study | |||||||
rs1304690370 | 24 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.386) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000009.12:g.135561871A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561871A>T Locations: - p.Thr24Ser (Ensembl:ENST00000277508) - c.70A>T (Ensembl:ENST00000277508) - p.Thr24Ser (Ensembl:ENST00000371766) - c.70A>T (Ensembl:ENST00000371766) - p.Thr24Ser (Ensembl:ENST00000479141) - c.70A>T (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1382729031 | 25 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000009.12:g.135561875A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561875A>G Locations: - p.Lys25Arg (Ensembl:ENST00000371766) - c.74A>G (Ensembl:ENST00000371766) - p.Lys25Arg (Ensembl:ENST00000479141) - c.74A>G (Ensembl:ENST00000479141) - p.Lys25Arg (Ensembl:ENST00000277508) - c.74A>G (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1381521483 | 26 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135561877C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561877C>T Locations: - p.Gln26Ter (Ensembl:ENST00000371766) - c.76C>T (Ensembl:ENST00000371766) - p.Gln26Ter (Ensembl:ENST00000277508) - c.76C>T (Ensembl:ENST00000277508) - p.Gln26Ter (Ensembl:ENST00000479141) - c.76C>T (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1381521483 | 26 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.135561877C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561877C>G Locations: - p.Gln26Glu (Ensembl:ENST00000479141) - c.76C>G (Ensembl:ENST00000479141) - p.Gln26Glu (Ensembl:ENST00000277508) - c.76C>G (Ensembl:ENST00000277508) - p.Gln26Glu (Ensembl:ENST00000371766) - c.76C>G (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1295678953 | 27 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000009.12:g.135561880G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561880G>A Locations: - p.Asp27Asn (Ensembl:ENST00000479141) - c.79G>A (Ensembl:ENST00000479141) - p.Asp27Asn (Ensembl:ENST00000371766) - c.79G>A (Ensembl:ENST00000371766) - p.Asp27Asn (Ensembl:ENST00000277508) - c.79G>A (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
VAR_050178 rs34284195 | 28 | L>V | UniProt Ensembl dbSNP | ||||
Consequence: missense Somatic: No Accession: NC_000009.12:g.135561883C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561883C>G Locations: - p.Leu28Val (UniProt:P09466) Source type: mixed | |||||||
rs1832313347 | 29 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135561886G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561886G>C Locations: - p.Glu29Gln (Ensembl:ENST00000479141) - c.85G>C (Ensembl:ENST00000479141) - p.Glu29Gln (Ensembl:ENST00000277508) - c.85G>C (Ensembl:ENST00000277508) - p.Glu29Gln (Ensembl:ENST00000371766) - c.85G>C (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1327682415 | 30 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.876) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135561889C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561889C>T Locations: - p.Leu30Phe (Ensembl:ENST00000479141) - c.88C>T (Ensembl:ENST00000479141) - p.Leu30Phe (Ensembl:ENST00000371766) - c.88C>T (Ensembl:ENST00000371766) - p.Leu30Phe (Ensembl:ENST00000277508) - c.88C>T (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs2119020073 | 31 | P>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.135561893C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561893C>A Locations: - p.Pro31Gln (Ensembl:ENST00000479141) - c.92C>A (Ensembl:ENST00000479141) - p.Pro31Gln (Ensembl:ENST00000277508) - c.92C>A (Ensembl:ENST00000277508) - p.Pro31Gln (Ensembl:ENST00000371766) - c.92C>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1470452230 | 32 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.297) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000009.12:g.135561895A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561895A>G Locations: - p.Lys32Glu (Ensembl:ENST00000479141) - c.94A>G (Ensembl:ENST00000479141) - p.Lys32Glu (Ensembl:ENST00000371766) - c.94A>G (Ensembl:ENST00000371766) - p.Lys32Glu (Ensembl:ENST00000277508) - c.94A>G (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1470452230 | 32 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.386) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.135561895A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135561895A>C Locations: - p.Lys32Gln (Ensembl:ENST00000479141) - c.94A>C (Ensembl:ENST00000479141) - p.Lys32Gln (Ensembl:ENST00000371766) - c.94A>C (Ensembl:ENST00000371766) - p.Lys32Gln (Ensembl:ENST00000277508) - c.94A>C (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
COSV99478980 | 32 | K>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135561896A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135561896A>C Locations: - p.Lys32Thr (cosmic curated:ENST00000371766) - c.95A>C (cosmic curated:ENST00000371766) - p.Lys32Thr (cosmic curated:ENST00000277508) - c.95A>C (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1234412664 | 33 | L>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135562295T>A Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562295T>A Locations: - p.Leu33Ter (Ensembl:ENST00000277508) - c.98T>A (Ensembl:ENST00000277508) - p.Leu33Ter (Ensembl:ENST00000479141) - c.98T>A (Ensembl:ENST00000479141) - p.Leu33Ter (Ensembl:ENST00000371766) - c.98T>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1406088286 | 33 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.943) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135562296G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562296G>C Locations: - p.Leu33Phe (Ensembl:ENST00000371766) - c.99G>C (Ensembl:ENST00000371766) - p.Leu33Phe (Ensembl:ENST00000479141) - c.99G>C (Ensembl:ENST00000479141) - p.Leu33Phe (Ensembl:ENST00000277508) - c.99G>C (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1175101508 | 33 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.135562294T>G Codon: TTG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562294T>G Locations: - p.Leu33Val (Ensembl:ENST00000371766) - c.97T>G (Ensembl:ENST00000371766) - p.Leu33Val (Ensembl:ENST00000479141) - c.97T>G (Ensembl:ENST00000479141) - p.Leu33Val (Ensembl:ENST00000277508) - c.97T>G (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs746780851 | 34 | A>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.135562298C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562298C>A Locations: - p.Ala34Glu (Ensembl:ENST00000371766) - c.101C>A (Ensembl:ENST00000371766) - p.Ala34Glu (Ensembl:ENST00000479141) - c.101C>A (Ensembl:ENST00000479141) - p.Ala34Glu (Ensembl:ENST00000277508) - c.101C>A (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs574993143 | 34 | A>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135562297G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562297G>T Locations: - p.Ala34Ser (Ensembl:ENST00000277508) - c.100G>T (Ensembl:ENST00000277508) - p.Ala34Ser (Ensembl:ENST00000371766) - c.100G>T (Ensembl:ENST00000371766) - p.Ala34Ser (Ensembl:ENST00000479141) - c.100G>T (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs746780851 | 34 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135562298C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562298C>T Locations: - p.Ala34Val (Ensembl:ENST00000277508) - c.101C>T (Ensembl:ENST00000277508) - p.Ala34Val (Ensembl:ENST00000371766) - c.101C>T (Ensembl:ENST00000371766) - p.Ala34Val (Ensembl:ENST00000479141) - c.101C>T (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
COSV52985081 | 35 | G>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135562301G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135562301G>A Locations: - p.Gly35Glu (cosmic curated:ENST00000277508) - c.104G>A (cosmic curated:ENST00000277508) - p.Gly35Glu (cosmic curated:ENST00000371766) - c.104G>A (cosmic curated:ENST00000371766) Source type: large scale study Cross-references: | |||||||
COSV104534286 | 35 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135562300G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135562300G>A Locations: - p.Gly35Arg (cosmic curated:ENST00000371766) - c.103G>A (cosmic curated:ENST00000371766) - p.Gly35Arg (cosmic curated:ENST00000277508) - c.103G>A (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
COSV52985443 rs1373115502 | 36 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000009.12:g.135562304C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562304C>T Locations: - p.T36I (NCI-TCGA:ENST00000479141) - p.T36I (NCI-TCGA:ENST00000371766) - p.T36I (NCI-TCGA:ENST00000277508) - p.Thr36Ile (Ensembl:ENST00000277508) - c.107C>T (Ensembl:ENST00000277508) - p.Thr36Ile (Ensembl:ENST00000479141) - c.107C>T (Ensembl:ENST00000479141) - p.Thr36Ile (Ensembl:ENST00000371766) - c.107C>T (Ensembl:ENST00000371766) Source type: large scale study | |||||||
rs1373115502 | 36 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135562304C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562304C>A Locations: - p.Thr36Asn (Ensembl:ENST00000479141) - c.107C>A (Ensembl:ENST00000479141) - p.Thr36Asn (Ensembl:ENST00000277508) - c.107C>A (Ensembl:ENST00000277508) - p.Thr36Asn (Ensembl:ENST00000371766) - c.107C>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1373115502 | 36 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.953) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.135562304C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562304C>G Locations: - p.Thr36Ser (Ensembl:ENST00000479141) - c.107C>G (Ensembl:ENST00000479141) - p.Thr36Ser (Ensembl:ENST00000277508) - c.107C>G (Ensembl:ENST00000277508) - p.Thr36Ser (Ensembl:ENST00000371766) - c.107C>G (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
COSV52984717 | 37 | W>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135562308G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135562308G>T Locations: - p.Trp37Cys (cosmic curated:ENST00000371766) - c.111G>T (cosmic curated:ENST00000371766) - p.Trp37Cys (cosmic curated:ENST00000277508) - c.111G>T (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs955569935 | 37 | W>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135562306T>A Codon: TGG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562306T>A Locations: - p.Trp37Arg (Ensembl:ENST00000371766) - c.109T>A (Ensembl:ENST00000371766) - p.Trp37Arg (Ensembl:ENST00000277508) - c.109T>A (Ensembl:ENST00000277508) - p.Trp37Arg (Ensembl:ENST00000479141) - c.109T>A (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs776584570 | 40 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.135562316T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562316T>C Locations: - p.Met40Thr (Ensembl:ENST00000479141) - c.119T>C (Ensembl:ENST00000479141) - p.Met40Thr (Ensembl:ENST00000277508) - c.119T>C (Ensembl:ENST00000277508) - p.Met40Thr (Ensembl:ENST00000371766) - c.119T>C (Ensembl:ENST00000371766) Source type: large scale study | |||||||
rs1832338568 | 40 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.276) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000009.12:g.135562315A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562315A>G Locations: - p.Met40Val (Ensembl:ENST00000371766) - c.118A>G (Ensembl:ENST00000371766) - p.Met40Val (Ensembl:ENST00000479141) - c.118A>G (Ensembl:ENST00000479141) - p.Met40Val (Ensembl:ENST00000277508) - c.118A>G (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
COSV99478947 rs1322054577 | 41 | A>T | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.135562318G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562318G>A Locations: - p.Ala41Thr (Ensembl:ENST00000371766) - c.121G>A (Ensembl:ENST00000371766) - p.Ala41Thr (Ensembl:ENST00000277508) - c.121G>A (Ensembl:ENST00000277508) - p.Ala41Thr (Ensembl:ENST00000479141) - c.121G>A (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
TCGA novel | 41 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.135562319C>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562319C>T Locations: - c.122C>T (NCI-TCGA:ENST00000277508) - p.A41V (NCI-TCGA:ENST00000277508) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs759219085 | 42 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.135562321A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562321A>T Locations: - p.Met42Leu (Ensembl:ENST00000277508) - c.124A>T (Ensembl:ENST00000277508) - p.Met42Leu (Ensembl:ENST00000371766) - c.124A>T (Ensembl:ENST00000371766) - p.Met42Leu (Ensembl:ENST00000479141) - c.124A>T (Ensembl:ENST00000479141) Source type: large scale study | |||||||
rs759219085 | 42 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.135562321A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562321A>G Locations: - p.Met42Val (Ensembl:ENST00000371766) - c.124A>G (Ensembl:ENST00000371766) - p.Met42Val (Ensembl:ENST00000277508) - c.124A>G (Ensembl:ENST00000277508) - p.Met42Val (Ensembl:ENST00000479141) - c.124A>G (Ensembl:ENST00000479141) Source type: large scale study | |||||||
rs1263908242 | 43 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.135562324G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562324G>A Locations: - p.Ala43Thr (Ensembl:ENST00000479141) - c.127G>A (Ensembl:ENST00000479141) - p.Ala43Thr (Ensembl:ENST00000277508) - c.127G>A (Ensembl:ENST00000277508) - p.Ala43Thr (Ensembl:ENST00000371766) - c.127G>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs774836710 | 43 | A>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.44) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000009.12:g.135562325C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562325C>T Locations: - p.Ala43Val (Ensembl:ENST00000371766) - c.128C>T (Ensembl:ENST00000371766) - p.Ala43Val (Ensembl:ENST00000479141) - c.128C>T (Ensembl:ENST00000479141) - p.Ala43Val (Ensembl:ENST00000277508) - c.128C>T (Ensembl:ENST00000277508) Source type: large scale study | |||||||
rs1832340539 | 47 | I>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000009.12:g.135562336A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562336A>T Locations: - p.Ile47Phe (Ensembl:ENST00000371766) - c.139A>T (Ensembl:ENST00000371766) - p.Ile47Phe (Ensembl:ENST00000479141) - c.139A>T (Ensembl:ENST00000479141) - p.Ile47Phe (Ensembl:ENST00000277508) - c.139A>T (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1564247545 | 47 | I>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.787) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135562337T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562337T>A Locations: - p.Ile47Asn (Ensembl:ENST00000479141) - c.140T>A (Ensembl:ENST00000479141) - p.Ile47Asn (Ensembl:ENST00000277508) - c.140T>A (Ensembl:ENST00000277508) - p.Ile47Asn (Ensembl:ENST00000371766) - c.140T>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1832340539 | 47 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000009.12:g.135562336A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562336A>G Locations: - p.Ile47Val (Ensembl:ENST00000371766) - c.139A>G (Ensembl:ENST00000371766) - p.Ile47Val (Ensembl:ENST00000277508) - c.139A>G (Ensembl:ENST00000277508) - p.Ile47Val (Ensembl:ENST00000479141) - c.139A>G (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
COSV104534287 | 48 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135562340C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135562340C>T Locations: - p.Ser48Phe (cosmic curated:ENST00000371766) - c.143C>T (cosmic curated:ENST00000371766) - p.Ser48Phe (cosmic curated:ENST00000277508) - c.143C>T (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1564247563 | 49 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.135562342C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562342C>T Locations: - p.Leu49Phe (Ensembl:ENST00000277508) - c.145C>T (Ensembl:ENST00000277508) - p.Leu49Phe (Ensembl:ENST00000479141) - c.145C>T (Ensembl:ENST00000479141) - p.Leu49Phe (Ensembl:ENST00000371766) - c.145C>T (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs752038053 | 49 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135562343T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562343T>C Locations: - p.Leu49Pro (Ensembl:ENST00000479141) - c.146T>C (Ensembl:ENST00000479141) - p.Leu49Pro (Ensembl:ENST00000371766) - c.146T>C (Ensembl:ENST00000371766) - p.Leu49Pro (Ensembl:ENST00000277508) - c.146T>C (Ensembl:ENST00000277508) Source type: large scale study | |||||||
rs1470657653 | 50 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135562347G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562347G>C Locations: - p.Met50Ile (Ensembl:ENST00000479141) - c.150G>C (Ensembl:ENST00000479141) - p.Met50Ile (Ensembl:ENST00000277508) - c.150G>C (Ensembl:ENST00000277508) - p.Met50Ile (Ensembl:ENST00000371766) - c.150G>C (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
COSV52985628 rs145340827 | 51 | A>V | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.11) Somatic: Yes Accession: NC_000009.12:g.135562349C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562349C>T Locations: - p.Ala51Val (Ensembl:ENST00000479141) - c.152C>T (Ensembl:ENST00000479141) - p.Ala51Val (Ensembl:ENST00000371766) - c.152C>T (Ensembl:ENST00000371766) - p.Ala51Val (Ensembl:ENST00000277508) - c.152C>T (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs374587169 | 53 | L>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.464) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.135562355T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562355T>C Locations: - p.Leu53Pro (Ensembl:ENST00000371766) - c.158T>C (Ensembl:ENST00000371766) - p.Leu53Pro (Ensembl:ENST00000277508) - c.158T>C (Ensembl:ENST00000277508) - p.Leu53Pro (Ensembl:ENST00000479141) - c.158T>C (Ensembl:ENST00000479141) Source type: large scale study | |||||||
rs374587169 | 53 | L>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000009.12:g.135562355T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562355T>A Locations: - p.Leu53Gln (Ensembl:ENST00000371766) - c.158T>A (Ensembl:ENST00000371766) - p.Leu53Gln (Ensembl:ENST00000277508) - c.158T>A (Ensembl:ENST00000277508) - p.Leu53Gln (Ensembl:ENST00000479141) - c.158T>A (Ensembl:ENST00000479141) Source type: large scale study | |||||||
rs749315616 | 54 | K>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000009.12:g.135562359G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562359G>T Locations: - p.Lys54Asn (Ensembl:ENST00000479141) - c.162G>T (Ensembl:ENST00000479141) - p.Lys54Asn (Ensembl:ENST00000277508) - c.162G>T (Ensembl:ENST00000277508) - p.Lys54Asn (Ensembl:ENST00000371766) - c.162G>T (Ensembl:ENST00000371766) Source type: large scale study | |||||||
rs1832342691 | 55 | A>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135562361C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562361C>A Locations: - p.Ala55Asp (Ensembl:ENST00000479141) - c.164C>A (Ensembl:ENST00000479141) - p.Ala55Asp (Ensembl:ENST00000371766) - c.164C>A (Ensembl:ENST00000371766) - p.Ala55Asp (Ensembl:ENST00000277508) - c.164C>A (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1832343038 | 56 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135562364C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562364C>T Locations: - p.Pro56Leu (Ensembl:ENST00000277508) - c.167C>T (Ensembl:ENST00000277508) - p.Pro56Leu (Ensembl:ENST00000371766) - c.167C>T (Ensembl:ENST00000371766) - p.Pro56Leu (Ensembl:ENST00000479141) - c.167C>T (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs923776747 | 56 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.135562363C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562363C>T Locations: - p.Pro56Ser (Ensembl:ENST00000277508) - c.166C>T (Ensembl:ENST00000277508) - p.Pro56Ser (Ensembl:ENST00000479141) - c.166C>T (Ensembl:ENST00000479141) - p.Pro56Ser (Ensembl:ENST00000371766) - c.166C>T (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs2119022993 | 57 | L>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135562367T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562367T>A Locations: - p.Leu57Gln (Ensembl:ENST00000277508) - c.170T>A (Ensembl:ENST00000277508) - p.Leu57Gln (Ensembl:ENST00000371766) - c.170T>A (Ensembl:ENST00000371766) - p.Leu57Gln (Ensembl:ENST00000479141) - c.170T>A (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
COSV104373994 | 58 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135562371G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135562371G>T Locations: - p.Arg58Ser (cosmic curated:ENST00000277508) - c.174G>T (cosmic curated:ENST00000277508) - p.Arg58Ser (cosmic curated:ENST00000371766) - c.174G>T (cosmic curated:ENST00000371766) Source type: large scale study Cross-references: | |||||||
COSV52986104 | 60 | H>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135562376A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135562376A>G Locations: - p.His60Arg (cosmic curated:ENST00000277508) - c.179A>G (cosmic curated:ENST00000277508) - p.His60Arg (cosmic curated:ENST00000371766) - c.179A>G (cosmic curated:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1272320621 | 60 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.135562375C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562375C>T Locations: - p.His60Tyr (Ensembl:ENST00000277508) - c.178C>T (Ensembl:ENST00000277508) - p.His60Tyr (Ensembl:ENST00000479141) - c.178C>T (Ensembl:ENST00000479141) - p.His60Tyr (Ensembl:ENST00000371766) - c.178C>T (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
COSV99478959 | 61 | I>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.389) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000009.12:g.135562378A>C Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562378A>C Locations: - p.I61L (NCI-TCGA:ENST00000277508) - p.Ile61Leu (cosmic curated:ENST00000277508) - c.181A>C (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs745703548 | 61 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.772) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135562379T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562379T>C Locations: - p.Ile61Thr (Ensembl:ENST00000479141) - c.182T>C (Ensembl:ENST00000479141) - p.Ile61Thr (Ensembl:ENST00000277508) - c.182T>C (Ensembl:ENST00000277508) - p.Ile61Thr (Ensembl:ENST00000371766) - c.182T>C (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs2119023103 | 62 | T>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.135562382C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562382C>A Locations: - p.Thr62Asn (Ensembl:ENST00000277508) - c.185C>A (Ensembl:ENST00000277508) - p.Thr62Asn (Ensembl:ENST00000479141) - c.185C>A (Ensembl:ENST00000479141) - p.Thr62Asn (Ensembl:ENST00000371766) - c.185C>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1276589037 | 64 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135562388T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562388T>C Locations: - p.Leu64Pro (Ensembl:ENST00000371766) - c.191T>C (Ensembl:ENST00000371766) - p.Leu64Pro (Ensembl:ENST00000277508) - c.191T>C (Ensembl:ENST00000277508) - p.Leu64Pro (Ensembl:ENST00000479141) - c.191T>C (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs2119023208 | 65 | L>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000009.12:g.135562391T>G Codon: TTG/TGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562391T>G Locations: - p.Leu65Trp (Ensembl:ENST00000371766) - c.194T>G (Ensembl:ENST00000371766) - p.Leu65Trp (Ensembl:ENST00000277508) - c.194T>G (Ensembl:ENST00000277508) - p.Leu65Trp (Ensembl:ENST00000479141) - c.194T>G (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
COSV52985045 | 66 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135562394C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135562394C>T Locations: - p.Pro66Leu (cosmic curated:ENST00000371766) - c.197C>T (cosmic curated:ENST00000371766) - p.Pro66Leu (cosmic curated:ENST00000277508) - c.197C>T (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1421681386 | 67 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135562397C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562397C>T Locations: - p.Thr67Ile (Ensembl:ENST00000277508) - c.200C>T (Ensembl:ENST00000277508) - p.Thr67Ile (Ensembl:ENST00000371766) - c.200C>T (Ensembl:ENST00000371766) - p.Thr67Ile (Ensembl:ENST00000479141) - c.200C>T (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
COSV99478840 | 67 | T>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.135562397C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562397C>A Locations: - p.T67N (NCI-TCGA:ENST00000277508) - p.Thr67Asn (cosmic curated:ENST00000277508) - c.200C>A (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1476719700 | 68 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000009.12:g.135562399C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562399C>G Locations: - p.Pro68Ala (Ensembl:ENST00000479141) - c.202C>G (Ensembl:ENST00000479141) - p.Pro68Ala (Ensembl:ENST00000277508) - c.202C>G (Ensembl:ENST00000277508) - p.Pro68Ala (Ensembl:ENST00000371766) - c.202C>G (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1330443657 | 68 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135562400C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562400C>T Locations: - p.Pro68Leu (Ensembl:ENST00000479141) - c.203C>T (Ensembl:ENST00000479141) - p.Pro68Leu (Ensembl:ENST00000371766) - c.203C>T (Ensembl:ENST00000371766) - p.Pro68Leu (Ensembl:ENST00000277508) - c.203C>T (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
COSV99478901 rs762512841 | 69 | E>K | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.849) - SIFT: tolerated (0.16) Somatic: Yes Accession: NC_000009.12:g.135562402G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562402G>A Locations: - p.Glu69Lys (Ensembl:ENST00000479141) - c.205G>A (Ensembl:ENST00000479141) - p.Glu69Lys (Ensembl:ENST00000371766) - c.205G>A (Ensembl:ENST00000371766) - p.Glu69Lys (Ensembl:ENST00000277508) - c.205G>A (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
COSV99478840 | 69 | E>R | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: frameshift Somatic: Yes Accession: NC_000009.12:g.135562397del Consequence type: frameshift Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562397del Locations: - c.204del (NCI-TCGA:ENST00000277508) - p.E69Rfs*67 (NCI-TCGA:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs201378155 | 70 | D>E | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135562407C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562407C>A Locations: - p.Asp70Glu (Ensembl:ENST00000371766) - c.210C>A (Ensembl:ENST00000371766) - p.Asp70Glu (Ensembl:ENST00000479141) - c.210C>A (Ensembl:ENST00000479141) - p.Asp70Glu (Ensembl:ENST00000277508) - c.210C>A (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1588171607 | 70 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.135562406A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562406A>G Locations: - p.Asp70Gly (Ensembl:ENST00000371766) - c.209A>G (Ensembl:ENST00000371766) - p.Asp70Gly (Ensembl:ENST00000277508) - c.209A>G (Ensembl:ENST00000277508) - p.Asp70Gly (Ensembl:ENST00000479141) - c.209A>G (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs201453795 | 71 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.28) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000009.12:g.135562408A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562408A>C Locations: - p.Asn71His (Ensembl:ENST00000371766) - c.211A>C (Ensembl:ENST00000371766) - p.Asn71His (Ensembl:ENST00000479141) - c.211A>C (Ensembl:ENST00000479141) - p.Asn71His (Ensembl:ENST00000277508) - c.211A>C (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
COSV52985377 | 73 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135562415A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135562415A>G Locations: - p.Glu73Gly (cosmic curated:ENST00000277508) - c.218A>G (cosmic curated:ENST00000277508) - p.Glu73Gly (cosmic curated:ENST00000371766) - c.218A>G (cosmic curated:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1832347593 | 73 | E>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135562415A>T Codon: GAG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562415A>T Locations: - p.Glu73Val (Ensembl:ENST00000371766) - c.218A>T (Ensembl:ENST00000371766) - p.Glu73Val (Ensembl:ENST00000479141) - c.218A>T (Ensembl:ENST00000479141) - p.Glu73Val (Ensembl:ENST00000277508) - c.218A>T (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs773756004 | 74 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.135562419C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562419C>G Locations: - p.Ile74Met (Ensembl:ENST00000277508) - c.222C>G (Ensembl:ENST00000277508) - p.Ile74Met (Ensembl:ENST00000371766) - c.222C>G (Ensembl:ENST00000371766) - p.Ile74Met (Ensembl:ENST00000479141) - c.222C>G (Ensembl:ENST00000479141) Source type: large scale study | |||||||
rs142465737 | 75 | V>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000009.12:g.135562420G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562420G>T Locations: - p.Val75Phe (Ensembl:ENST00000479141) - c.223G>T (Ensembl:ENST00000479141) - p.Val75Phe (Ensembl:ENST00000371766) - c.223G>T (Ensembl:ENST00000371766) - p.Val75Phe (Ensembl:ENST00000277508) - c.223G>T (Ensembl:ENST00000277508) Source type: large scale study | |||||||
rs142465737 | 75 | V>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.135562420G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562420G>A Locations: - p.Val75Ile (Ensembl:ENST00000277508) - c.223G>A (Ensembl:ENST00000277508) - p.Val75Ile (Ensembl:ENST00000479141) - c.223G>A (Ensembl:ENST00000479141) - p.Val75Ile (Ensembl:ENST00000371766) - c.223G>A (Ensembl:ENST00000371766) Source type: large scale study | |||||||
rs750765840 | 77 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.135562427A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562427A>G Locations: - p.His77Arg (Ensembl:ENST00000277508) - c.230A>G (Ensembl:ENST00000277508) - p.His77Arg (Ensembl:ENST00000371766) - c.230A>G (Ensembl:ENST00000371766) - p.His77Arg (Ensembl:ENST00000479141) - c.230A>G (Ensembl:ENST00000479141) Source type: large scale study | |||||||
COSV99478841 | 78 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.097) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000009.12:g.135562430G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562430G>A Locations: - p.R78K (NCI-TCGA:ENST00000277508) - p.Arg78Lys (cosmic curated:ENST00000277508) - c.233G>A (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1424393979 | 79 | W>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135562433G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562433G>A Locations: - p.Trp79Ter (Ensembl:ENST00000479141) - c.236G>A (Ensembl:ENST00000479141) - p.Trp79Ter (Ensembl:ENST00000277508) - c.236G>A (Ensembl:ENST00000277508) - p.Trp79Ter (Ensembl:ENST00000371766) - c.236G>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs749076505 | 79 | W>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135562820G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562820G>A Locations: - p.Trp79Ter (Ensembl:ENST00000277508) - c.237G>A (Ensembl:ENST00000277508) - p.Trp79Ter (Ensembl:ENST00000371766) - c.237G>A (Ensembl:ENST00000371766) - p.Trp79Ter (Ensembl:ENST00000479141) - c.237G>A (Ensembl:ENST00000479141) Source type: large scale study | |||||||
rs749076505 | 79 | W>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.243) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000009.12:g.135562820G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562820G>T Locations: - p.Trp79Cys (Ensembl:ENST00000479141) - c.237G>T (Ensembl:ENST00000479141) - p.Trp79Cys (Ensembl:ENST00000371766) - c.237G>T (Ensembl:ENST00000371766) - p.Trp79Cys (Ensembl:ENST00000277508) - c.237G>T (Ensembl:ENST00000277508) Source type: large scale study | |||||||
rs1832348887 | 79 | W>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000009.12:g.135562432T>G Codon: TGG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562432T>G Locations: - p.Trp79Gly (Ensembl:ENST00000371766) - c.235T>G (Ensembl:ENST00000371766) - p.Trp79Gly (Ensembl:ENST00000479141) - c.235T>G (Ensembl:ENST00000479141) - p.Trp79Gly (Ensembl:ENST00000277508) - c.235T>G (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1832374425 | 81 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.49) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000009.12:g.135562826C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562826C>A Locations: - p.Asn81Lys (Ensembl:ENST00000371766) - c.243C>A (Ensembl:ENST00000371766) - p.Asn81Lys (Ensembl:ENST00000277508) - c.243C>A (Ensembl:ENST00000277508) - p.Asn81Lys (Ensembl:ENST00000479141) - c.243C>A (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
COSV52985600 | 82 | N>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135562829C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135562829C>A Locations: - p.Asn82Lys (cosmic curated:ENST00000277508) - c.246C>A (cosmic curated:ENST00000277508) - p.Asn82Lys (cosmic curated:ENST00000371766) - c.246C>A (cosmic curated:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1318521629 | 83 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000009.12:g.135562831G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562831G>A Locations: - p.Ser83Asn (Ensembl:ENST00000277508) - c.248G>A (Ensembl:ENST00000277508) - p.Ser83Asn (Ensembl:ENST00000371766) - c.248G>A (Ensembl:ENST00000371766) - p.Ser83Asn (Ensembl:ENST00000479141) - c.248G>A (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs200987726 | 83 | S>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.78) Somatic: No Accession: NC_000009.12:g.135562832C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562832C>G Locations: - p.Ser83Arg (Ensembl:ENST00000479141) - c.249C>G (Ensembl:ENST00000479141) - p.Ser83Arg (Ensembl:ENST00000277508) - c.249C>G (Ensembl:ENST00000277508) - p.Ser83Arg (Ensembl:ENST00000371766) - c.249C>G (Ensembl:ENST00000371766) Source type: large scale study | |||||||
rs1832374974 | 84 | C>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135562835T>A Codon: TGT/TGA Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562835T>A Locations: - p.Cys84Ter (Ensembl:ENST00000277508) - c.252T>A (Ensembl:ENST00000277508) - p.Cys84Ter (Ensembl:ENST00000371766) - c.252T>A (Ensembl:ENST00000371766) - p.Cys84Ter (Ensembl:ENST00000479141) - c.252T>A (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs778489565 | 84 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135562834G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562834G>A Locations: - p.Cys84Tyr (Ensembl:ENST00000371766) - c.251G>A (Ensembl:ENST00000371766) - p.Cys84Tyr (Ensembl:ENST00000277508) - c.251G>A (Ensembl:ENST00000277508) - p.Cys84Tyr (Ensembl:ENST00000479141) - c.251G>A (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs995506818 | 85 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.471) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000009.12:g.135562836G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562836G>A Locations: - p.Val85Ile (Ensembl:ENST00000277508) - c.253G>A (Ensembl:ENST00000277508) - p.Val85Ile (Ensembl:ENST00000371766) - c.253G>A (Ensembl:ENST00000371766) - p.Val85Ile (Ensembl:ENST00000479141) - c.253G>A (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1409393114 | 86 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.135562841G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562841G>T Locations: - p.Glu86Asp (Ensembl:ENST00000479141) - c.258G>T (Ensembl:ENST00000479141) - p.Glu86Asp (Ensembl:ENST00000371766) - c.258G>T (Ensembl:ENST00000371766) - p.Glu86Asp (Ensembl:ENST00000277508) - c.258G>T (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
COSV52985890 | 86 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.615) - SIFT: tolerated (0.15) Somatic: Yes Accession: NC_000009.12:g.135562839G>C Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562839G>C Locations: - p.E86Q (NCI-TCGA:ENST00000277508) - p.Glu86Gln (cosmic curated:ENST00000277508) - c.256G>C (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs200495963 | 87 | K>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.259) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000009.12:g.135562842A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562842A>G Locations: - p.Lys87Glu (Ensembl:ENST00000277508) - c.259A>G (Ensembl:ENST00000277508) - p.Lys87Glu (Ensembl:ENST00000479141) - c.259A>G (Ensembl:ENST00000479141) - p.Lys87Glu (Ensembl:ENST00000371766) - c.259A>G (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1174384255 | 87 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.135562844G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562844G>T Locations: - p.Lys87Asn (Ensembl:ENST00000479141) - c.261G>T (Ensembl:ENST00000479141) - p.Lys87Asn (Ensembl:ENST00000277508) - c.261G>T (Ensembl:ENST00000277508) - p.Lys87Asn (Ensembl:ENST00000371766) - c.261G>T (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs200495963 | 87 | K>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.49) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000009.12:g.135562842A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562842A>C Locations: - p.Lys87Gln (Ensembl:ENST00000479141) - c.259A>C (Ensembl:ENST00000479141) - p.Lys87Gln (Ensembl:ENST00000371766) - c.259A>C (Ensembl:ENST00000371766) - p.Lys87Gln (Ensembl:ENST00000277508) - c.259A>C (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs77448806 | 88 | K>N | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.471) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000009.12:g.135562847G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562847G>C Locations: - p.Lys88Asn (Ensembl:ENST00000479141) - c.264G>C (Ensembl:ENST00000479141) - p.Lys88Asn (Ensembl:ENST00000371766) - c.264G>C (Ensembl:ENST00000371766) - p.Lys88Asn (Ensembl:ENST00000277508) - c.264G>C (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1717957241 | 89 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135562849T>G Codon: GTC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562849T>G Locations: - p.Val89Gly (Ensembl:ENST00000479141) - c.266T>G (Ensembl:ENST00000479141) - p.Val89Gly (Ensembl:ENST00000371766) - c.266T>G (Ensembl:ENST00000371766) - p.Val89Gly (Ensembl:ENST00000277508) - c.266T>G (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
TCGA novel | 89 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.135562848G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562848G>A Locations: - c.265G>A (NCI-TCGA:ENST00000277508) - p.V89I (NCI-TCGA:ENST00000277508) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs538639707 | 90 | L>H | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135562852T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562852T>A Locations: - p.Leu90His (Ensembl:ENST00000277508) - c.269T>A (Ensembl:ENST00000277508) - p.Leu90His (Ensembl:ENST00000371766) - c.269T>A (Ensembl:ENST00000371766) - p.Leu90His (Ensembl:ENST00000479141) - c.269T>A (Ensembl:ENST00000479141) Source type: large scale study | |||||||
COSV52985209 | 90 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135562850-135562851CC>AA Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135562850-135562851CC>AA Locations: - p.Leu90Ile (cosmic curated:ENST00000371766) - c.267_268delinsAA (cosmic curated:ENST00000371766) - p.Leu90Ile (cosmic curated:ENST00000277508) - c.267_268delinsAA (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
TCGA novel | 92 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.56) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000009.12:g.135562857G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562857G>A Locations: - c.274G>A (NCI-TCGA:ENST00000277508) - p.E92K (NCI-TCGA:ENST00000277508) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1317782689 COSV52986262 | 93 | K>N | gnomAD cosmic curated | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.135562862G>C, NC_000009.12:g.135562862G>T Codon: AAG/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562862G>C, NC_000009.12:g.135562862G>T Locations: - p.Lys93Asn (Ensembl:ENST00000277508) - c.279G>C (Ensembl:ENST00000277508) - p.Lys93Asn (Ensembl:ENST00000371766) - c.279G>C (Ensembl:ENST00000371766) - p.Lys93Asn (Ensembl:ENST00000479141) - c.279G>C (Ensembl:ENST00000479141) - p.Lys93Asn (cosmic curated:ENST00000277508) - c.279G>T (cosmic curated:ENST00000277508) - p.Lys93Asn (cosmic curated:ENST00000371766) - c.279G>T (cosmic curated:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1342085934 | 93 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.868) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.135562861A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562861A>G Locations: - p.Lys93Arg (Ensembl:ENST00000479141) - c.278A>G (Ensembl:ENST00000479141) - p.Lys93Arg (Ensembl:ENST00000277508) - c.278A>G (Ensembl:ENST00000277508) - p.Lys93Arg (Ensembl:ENST00000371766) - c.278A>G (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs747469336 | 94 | T>I | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135562864C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562864C>T Locations: - p.Thr94Ile (Ensembl:ENST00000371766) - c.281C>T (Ensembl:ENST00000371766) - p.Thr94Ile (Ensembl:ENST00000479141) - c.281C>T (Ensembl:ENST00000479141) - p.Thr94Ile (Ensembl:ENST00000277508) - c.281C>T (Ensembl:ENST00000277508) Source type: large scale study | |||||||
rs1278690146 | 95 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135562867A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562867A>G Locations: - p.Glu95Gly (Ensembl:ENST00000479141) - c.284A>G (Ensembl:ENST00000479141) - p.Glu95Gly (Ensembl:ENST00000371766) - c.284A>G (Ensembl:ENST00000371766) - p.Glu95Gly (Ensembl:ENST00000277508) - c.284A>G (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
TCGA novel | 95 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000009.12:g.135562866G>C Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562866G>C Locations: - c.283G>C (NCI-TCGA:ENST00000277508) - p.E95Q (NCI-TCGA:ENST00000277508) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1832376692 | 96 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.135562869A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562869A>G Locations: - p.Asn96Asp (Ensembl:ENST00000371766) - c.286A>G (Ensembl:ENST00000371766) - p.Asn96Asp (Ensembl:ENST00000479141) - c.286A>G (Ensembl:ENST00000479141) - p.Asn96Asp (Ensembl:ENST00000277508) - c.286A>G (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
COSV52985023 | 96 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: tolerated (0.79) Somatic: Yes Accession: NC_000009.12:g.135562870A>G Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562870A>G Locations: - p.N96S (NCI-TCGA:ENST00000277508) - p.Asn96Ser (cosmic curated:ENST00000277508) - c.287A>G (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1832376913 | 97 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.686) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135562872C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562872C>T Locations: - p.Pro97Ser (Ensembl:ENST00000277508) - c.289C>T (Ensembl:ENST00000277508) - p.Pro97Ser (Ensembl:ENST00000371766) - c.289C>T (Ensembl:ENST00000371766) - p.Pro97Ser (Ensembl:ENST00000479141) - c.289C>T (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs771375912 | 98 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.506) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135562877G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562877G>C Locations: - p.Lys98Asn (Ensembl:ENST00000277508) - c.294G>C (Ensembl:ENST00000277508) - p.Lys98Asn (Ensembl:ENST00000371766) - c.294G>C (Ensembl:ENST00000371766) - p.Lys98Asn (Ensembl:ENST00000479141) - c.294G>C (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1240038116 | 99 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000009.12:g.135562879A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562879A>G Locations: - p.Lys99Arg (Ensembl:ENST00000371766) - c.296A>G (Ensembl:ENST00000371766) - p.Lys99Arg (Ensembl:ENST00000277508) - c.296A>G (Ensembl:ENST00000277508) - p.Lys99Arg (Ensembl:ENST00000479141) - c.296A>G (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
COSV52985120 | 100 | F>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135562881T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135562881T>G Locations: - p.Phe100Val (cosmic curated:ENST00000371766) - c.298T>G (cosmic curated:ENST00000371766) - p.Phe100Val (cosmic curated:ENST00000277508) - c.298T>G (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
TCGA novel | 101 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000009.12:g.135562886G>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562886G>T Locations: - c.303G>T (NCI-TCGA:ENST00000277508) - p.K101N (NCI-TCGA:ENST00000277508) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1486872705 | 101 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.185) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000009.12:g.135562884A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562884A>C Locations: - p.Lys101Gln (Ensembl:ENST00000277508) - c.301A>C (Ensembl:ENST00000277508) - p.Lys101Gln (Ensembl:ENST00000371766) - c.301A>C (Ensembl:ENST00000371766) - p.Lys101Gln (Ensembl:ENST00000479141) - c.301A>C (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1203956405 | 101 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000009.12:g.135562885A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562885A>G Locations: - p.Lys101Arg (Ensembl:ENST00000479141) - c.302A>G (Ensembl:ENST00000479141) - p.Lys101Arg (Ensembl:ENST00000277508) - c.302A>G (Ensembl:ENST00000277508) - p.Lys101Arg (Ensembl:ENST00000371766) - c.302A>G (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
TCGA novel | 103 | N>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: - Somatic: No Accession: NC_000009.12:g.135562892C>T Consequence type: - Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562892C>T Locations: - c.309C>T (NCI-TCGA:ENST00000277508) - p.N103= (NCI-TCGA:ENST00000277508) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1832377885 | 103 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.471) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000009.12:g.135562891A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135562891A>G Locations: - p.Asn103Ser (Ensembl:ENST00000479141) - c.308A>G (Ensembl:ENST00000479141) - p.Asn103Ser (Ensembl:ENST00000371766) - c.308A>G (Ensembl:ENST00000371766) - p.Asn103Ser (Ensembl:ENST00000277508) - c.308A>G (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs570771664 | 105 | T>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.82) Somatic: No Accession: NC_000009.12:g.135564247C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564247C>A Locations: - p.Thr105Lys (Ensembl:ENST00000479141) - c.314C>A (Ensembl:ENST00000479141) - p.Thr105Lys (Ensembl:ENST00000277508) - c.314C>A (Ensembl:ENST00000277508) - p.Thr105Lys (Ensembl:ENST00000371766) - c.314C>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
COSV99479001 rs570771664 rs570771664,COSV99479001 | 105 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.23) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000009.12:g.135564247C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564247C>T Locations: - p.T105M (NCI-TCGA:ENST00000479141) - p.T105M (NCI-TCGA:ENST00000371766) - p.T105M (NCI-TCGA:ENST00000277508) - p.Thr105Met (Ensembl:ENST00000277508) - c.314C>T (Ensembl:ENST00000277508) - p.Thr105Met (Ensembl:ENST00000479141) - c.314C>T (Ensembl:ENST00000479141) - p.Thr105Met (Ensembl:ENST00000371766) - c.314C>T (Ensembl:ENST00000371766) Source type: large scale study | |||||||
COSV99478807 | 106 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.3) Somatic: Yes Accession: NC_000009.12:g.135564250T>C Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564250T>C Locations: - p.V106A (NCI-TCGA:ENST00000277508) - p.Val106Ala (cosmic curated:ENST00000277508) - c.317T>C (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1776888551 | 106 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000009.12:g.135564249G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564249G>C Locations: - p.Val106Leu (Ensembl:ENST00000479141) - c.316G>C (Ensembl:ENST00000479141) - p.Val106Leu (Ensembl:ENST00000371766) - c.316G>C (Ensembl:ENST00000371766) - p.Val106Leu (Ensembl:ENST00000277508) - c.316G>C (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1564249745 | 107 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000009.12:g.135564253C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564253C>T Locations: - p.A107V (NCI-TCGA:ENST00000479141) - p.A107V (NCI-TCGA:ENST00000371766) - p.A107V (NCI-TCGA:ENST00000277508) - p.Ala107Val (Ensembl:ENST00000371766) - c.320C>T (Ensembl:ENST00000371766) - p.Ala107Val (Ensembl:ENST00000277508) - c.320C>T (Ensembl:ENST00000277508) - p.Ala107Val (Ensembl:ENST00000479141) - c.320C>T (Ensembl:ENST00000479141) Source type: large scale study | |||||||
rs1032649481 | 109 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.135564258G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564258G>A Locations: - p.Glu109Lys (Ensembl:ENST00000371766) - c.325G>A (Ensembl:ENST00000371766) - p.Glu109Lys (Ensembl:ENST00000479141) - c.325G>A (Ensembl:ENST00000479141) - p.Glu109Lys (Ensembl:ENST00000277508) - c.325G>A (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1327054749 | 110 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.545) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135564261G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564261G>A Locations: - p.Ala110Thr (Ensembl:ENST00000371766) - c.328G>A (Ensembl:ENST00000371766) - p.Ala110Thr (Ensembl:ENST00000277508) - c.328G>A (Ensembl:ENST00000277508) - p.Ala110Thr (Ensembl:ENST00000479141) - c.328G>A (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs140662981 | 111 | T>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.179) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000009.12:g.135564265C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564265C>A Locations: - p.Thr111Lys (Ensembl:ENST00000479141) - c.332C>A (Ensembl:ENST00000479141) - p.Thr111Lys (Ensembl:ENST00000371766) - c.332C>A (Ensembl:ENST00000371766) - p.Thr111Lys (Ensembl:ENST00000277508) - c.332C>A (Ensembl:ENST00000277508) Source type: large scale study | |||||||
rs140662981 | 111 | T>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000009.12:g.135564265C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564265C>T Locations: - p.Thr111Met (Ensembl:ENST00000479141) - c.332C>T (Ensembl:ENST00000479141) - p.Thr111Met (Ensembl:ENST00000371766) - c.332C>T (Ensembl:ENST00000371766) - p.Thr111Met (Ensembl:ENST00000277508) - c.332C>T (Ensembl:ENST00000277508) Source type: large scale study | |||||||
rs1832472562 | 112 | L>P | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135564268T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564268T>C Locations: - p.Leu112Pro (Ensembl:ENST00000371766) - c.335T>C (Ensembl:ENST00000371766) - p.Leu112Pro (Ensembl:ENST00000479141) - c.335T>C (Ensembl:ENST00000479141) - p.Leu112Pro (Ensembl:ENST00000277508) - c.335T>C (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1832472562 | 112 | L>Q | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135564268T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564268T>A Locations: - p.Leu112Gln (Ensembl:ENST00000371766) - c.335T>A (Ensembl:ENST00000371766) - p.Leu112Gln (Ensembl:ENST00000479141) - c.335T>A (Ensembl:ENST00000479141) - p.Leu112Gln (Ensembl:ENST00000277508) - c.335T>A (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1021330821 | 113 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.295) - SIFT: tolerated (0.09) Somatic: No Population frequencies: - MAF: 0.000006242 (gnomAD) Accession: NC_000009.12:g.135564270C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564270C>T Locations: - p.L113F (NCI-TCGA:ENST00000479141) - p.L113F (NCI-TCGA:ENST00000371766) - p.L113F (NCI-TCGA:ENST00000277508) - p.Leu113Phe (Ensembl:ENST00000277508) - c.337C>T (Ensembl:ENST00000277508) - p.Leu113Phe (Ensembl:ENST00000371766) - c.337C>T (Ensembl:ENST00000371766) - p.Leu113Phe (Ensembl:ENST00000479141) - c.337C>T (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs971548557 | 114 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135564273G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564273G>C Locations: - p.Asp114His (Ensembl:ENST00000371766) - c.340G>C (Ensembl:ENST00000371766) - p.Asp114His (Ensembl:ENST00000277508) - c.340G>C (Ensembl:ENST00000277508) - p.Asp114His (Ensembl:ENST00000479141) - c.340G>C (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs971548557 | 114 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000009.12:g.135564273G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564273G>A Locations: - p.Asp114Asn (Ensembl:ENST00000277508) - c.340G>A (Ensembl:ENST00000277508) - p.Asp114Asn (Ensembl:ENST00000371766) - c.340G>A (Ensembl:ENST00000371766) - p.Asp114Asn (Ensembl:ENST00000479141) - c.340G>A (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1194213705 | 115 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.849) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000009.12:g.135564276A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564276A>G Locations: - p.Thr115Ala (Ensembl:ENST00000277508) - c.343A>G (Ensembl:ENST00000277508) - p.Thr115Ala (Ensembl:ENST00000371766) - c.343A>G (Ensembl:ENST00000371766) - p.Thr115Ala (Ensembl:ENST00000479141) - c.343A>G (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1392286265 | 115 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.686) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135564277C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564277C>T Locations: - p.Thr115Ile (Ensembl:ENST00000371766) - c.344C>T (Ensembl:ENST00000371766) - p.Thr115Ile (Ensembl:ENST00000277508) - c.344C>T (Ensembl:ENST00000277508) - p.Thr115Ile (Ensembl:ENST00000479141) - c.344C>T (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1392286265 | 115 | T>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135564277C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564277C>A Locations: - p.Thr115Asn (Ensembl:ENST00000277508) - c.344C>A (Ensembl:ENST00000277508) - p.Thr115Asn (Ensembl:ENST00000371766) - c.344C>A (Ensembl:ENST00000371766) - p.Thr115Asn (Ensembl:ENST00000479141) - c.344C>A (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs752525045 | 117 | Y>* | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135564284C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564284C>G Locations: - p.Tyr117Ter (Ensembl:ENST00000277508) - c.351C>G (Ensembl:ENST00000277508) - p.Tyr117Ter (Ensembl:ENST00000371766) - c.351C>G (Ensembl:ENST00000371766) - p.Tyr117Ter (Ensembl:ENST00000479141) - c.351C>G (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
COSV52986350 | 117 | Y>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135564283A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135564283A>G Locations: - p.Tyr117Cys (cosmic curated:ENST00000371766) - c.350A>G (cosmic curated:ENST00000371766) - p.Tyr117Cys (cosmic curated:ENST00000277508) - c.350A>G (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1161456149 | 118 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.837) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000009.12:g.135564285G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564285G>A Locations: - p.Asp118Asn (Ensembl:ENST00000479141) - c.352G>A (Ensembl:ENST00000479141) - p.Asp118Asn (Ensembl:ENST00000277508) - c.352G>A (Ensembl:ENST00000277508) - p.Asp118Asn (Ensembl:ENST00000371766) - c.352G>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1832474842 | 120 | F>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.135564292T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564292T>A Locations: - p.Phe120Tyr (Ensembl:ENST00000479141) - c.359T>A (Ensembl:ENST00000479141) - p.Phe120Tyr (Ensembl:ENST00000277508) - c.359T>A (Ensembl:ENST00000277508) - p.Phe120Tyr (Ensembl:ENST00000371766) - c.359T>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs977388105 | 121 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135564295T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564295T>C Locations: - p.Leu121Pro (Ensembl:ENST00000277508) - c.362T>C (Ensembl:ENST00000277508) - p.Leu121Pro (Ensembl:ENST00000371766) - c.362T>C (Ensembl:ENST00000371766) - p.Leu121Pro (Ensembl:ENST00000479141) - c.362T>C (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1458406267 | 122 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.35) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000009.12:g.135564297T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564297T>C Locations: - p.Phe122Leu (Ensembl:ENST00000479141) - c.364T>C (Ensembl:ENST00000479141) - p.Phe122Leu (Ensembl:ENST00000371766) - c.364T>C (Ensembl:ENST00000371766) - p.Phe122Leu (Ensembl:ENST00000277508) - c.364T>C (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1382191742 | 124 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135564303T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564303T>C Locations: - p.Cys124Arg (Ensembl:ENST00000371766) - c.370T>C (Ensembl:ENST00000371766) - p.Cys124Arg (Ensembl:ENST00000277508) - c.370T>C (Ensembl:ENST00000277508) - p.Cys124Arg (Ensembl:ENST00000479141) - c.370T>C (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
COSV52985998 | 124 | C>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135564304G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135564304G>A Locations: - p.Cys124Tyr (cosmic curated:ENST00000371766) - c.371G>A (cosmic curated:ENST00000371766) - p.Cys124Tyr (cosmic curated:ENST00000277508) - c.371G>A (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs3748210 | 126 | Q>* | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135564309C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564309C>T Locations: - p.Gln126Ter (Ensembl:ENST00000277508) - c.376C>T (Ensembl:ENST00000277508) - p.Gln126Ter (Ensembl:ENST00000479141) - c.376C>T (Ensembl:ENST00000479141) - p.Gln126Ter (Ensembl:ENST00000371766) - c.376C>T (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs3748210 | 126 | Q>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.135564309C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564309C>G Locations: - p.Gln126Glu (Ensembl:ENST00000277508) - c.376C>G (Ensembl:ENST00000277508) - p.Gln126Glu (Ensembl:ENST00000371766) - c.376C>G (Ensembl:ENST00000371766) - p.Gln126Glu (Ensembl:ENST00000479141) - c.376C>G (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
VAR_034355 COSV52985011 rs3748210 | 126 | Q>K | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135564309C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564309C>A Locations: - p.Gln126Lys (UniProt:P09466) Source type: mixed | |||||||
rs952108252 | 126 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135564310A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564310A>G Locations: - p.Gln126Arg (Ensembl:ENST00000371766) - c.377A>G (Ensembl:ENST00000371766) - p.Gln126Arg (Ensembl:ENST00000277508) - c.377A>G (Ensembl:ENST00000277508) - p.Gln126Arg (Ensembl:ENST00000479141) - c.377A>G (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1216165008 | 127 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.19) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000009.12:g.135564313A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564313A>G Locations: - p.Asp127Gly (Ensembl:ENST00000479141) - c.380A>G (Ensembl:ENST00000479141) - p.Asp127Gly (Ensembl:ENST00000277508) - c.380A>G (Ensembl:ENST00000277508) - p.Asp127Gly (Ensembl:ENST00000371766) - c.380A>G (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1832476614 | 127 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.135564312G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564312G>A Locations: - p.Asp127Asn (Ensembl:ENST00000371766) - c.379G>A (Ensembl:ENST00000371766) - p.Asp127Asn (Ensembl:ENST00000479141) - c.379G>A (Ensembl:ENST00000479141) - p.Asp127Asn (Ensembl:ENST00000277508) - c.379G>A (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs2119039032 | 128 | T>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.864) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.135564316C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564316C>A Locations: - p.Thr128Asn (Ensembl:ENST00000277508) - c.383C>A (Ensembl:ENST00000277508) - p.Thr128Asn (Ensembl:ENST00000371766) - c.383C>A (Ensembl:ENST00000371766) - p.Thr128Asn (Ensembl:ENST00000479141) - c.383C>A (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1322687698 | 129 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.135564318A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564318A>G Locations: - p.Thr129Ala (Ensembl:ENST00000277508) - c.385A>G (Ensembl:ENST00000277508) - p.Thr129Ala (Ensembl:ENST00000371766) - c.385A>G (Ensembl:ENST00000371766) - p.Thr129Ala (Ensembl:ENST00000479141) - c.385A>G (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1247683739 | 129 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.382) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000009.12:g.135564319C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564319C>T Locations: - p.Thr129Ile (Ensembl:ENST00000277508) - c.386C>T (Ensembl:ENST00000277508) - p.Thr129Ile (Ensembl:ENST00000479141) - c.386C>T (Ensembl:ENST00000479141) - p.Thr129Ile (Ensembl:ENST00000371766) - c.386C>T (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1247683739 | 129 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000009.12:g.135564319C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564319C>A Locations: - p.Thr129Asn (Ensembl:ENST00000479141) - c.386C>A (Ensembl:ENST00000479141) - p.Thr129Asn (Ensembl:ENST00000371766) - c.386C>A (Ensembl:ENST00000371766) - p.Thr129Asn (Ensembl:ENST00000277508) - c.386C>A (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1350535956 | 130 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.135564321A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564321A>G Locations: - p.Thr130Ala (Ensembl:ENST00000277508) - c.388A>G (Ensembl:ENST00000277508) - p.Thr130Ala (Ensembl:ENST00000371766) - c.388A>G (Ensembl:ENST00000371766) - p.Thr130Ala (Ensembl:ENST00000479141) - c.388A>G (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1350535956 | 130 | T>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000009.12:g.135564321A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564321A>C Locations: - p.Thr130Pro (Ensembl:ENST00000277508) - c.388A>C (Ensembl:ENST00000277508) - p.Thr130Pro (Ensembl:ENST00000371766) - c.388A>C (Ensembl:ENST00000371766) - p.Thr130Pro (Ensembl:ENST00000479141) - c.388A>C (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs867565438 | 132 | I>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.135564327A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564327A>T Locations: - p.Ile132Phe (Ensembl:ENST00000277508) - c.394A>T (Ensembl:ENST00000277508) - p.Ile132Phe (Ensembl:ENST00000371766) - c.394A>T (Ensembl:ENST00000371766) - p.Ile132Phe (Ensembl:ENST00000479141) - c.394A>T (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs867565438 | 132 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000009.12:g.135564327A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564327A>G Locations: - p.Ile132Val (Ensembl:ENST00000479141) - c.394A>G (Ensembl:ENST00000479141) - p.Ile132Val (Ensembl:ENST00000371766) - c.394A>G (Ensembl:ENST00000371766) - p.Ile132Val (Ensembl:ENST00000277508) - c.394A>G (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs910708530 | 134 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.708) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000009.12:g.135564333A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564333A>G Locations: - p.Ser134Gly (Ensembl:ENST00000371766) - c.400A>G (Ensembl:ENST00000371766) - p.Ser134Gly (Ensembl:ENST00000479141) - c.400A>G (Ensembl:ENST00000479141) - p.Ser134Gly (Ensembl:ENST00000277508) - c.400A>G (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1249913396 | 134 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000009.12:g.135564334G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564334G>A Locations: - p.Ser134Asn (Ensembl:ENST00000479141) - c.401G>A (Ensembl:ENST00000479141) - p.Ser134Asn (Ensembl:ENST00000277508) - c.401G>A (Ensembl:ENST00000277508) - p.Ser134Asn (Ensembl:ENST00000371766) - c.401G>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1460152976 | 135 | M>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.471) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000009.12:g.135564337T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564337T>G Locations: - p.Met135Arg (Ensembl:ENST00000479141) - c.404T>G (Ensembl:ENST00000479141) - p.Met135Arg (Ensembl:ENST00000371766) - c.404T>G (Ensembl:ENST00000371766) - p.Met135Arg (Ensembl:ENST00000277508) - c.404T>G (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1183219530 | 136 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.536) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000009.12:g.135564341G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564341G>A Locations: - p.Met136Ile (Ensembl:ENST00000277508) - c.408G>A (Ensembl:ENST00000277508) - p.Met136Ile (Ensembl:ENST00000371766) - c.408G>A (Ensembl:ENST00000371766) - p.Met136Ile (Ensembl:ENST00000479141) - c.408G>A (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1832479434 | 136 | M>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.135564340T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564340T>A Locations: - p.Met136Lys (Ensembl:ENST00000371766) - c.407T>A (Ensembl:ENST00000371766) - p.Met136Lys (Ensembl:ENST00000277508) - c.407T>A (Ensembl:ENST00000277508) - p.Met136Lys (Ensembl:ENST00000479141) - c.407T>A (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1832479434 | 136 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000009.12:g.135564340T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564340T>C Locations: - p.Met136Thr (Ensembl:ENST00000479141) - c.407T>C (Ensembl:ENST00000479141) - p.Met136Thr (Ensembl:ENST00000371766) - c.407T>C (Ensembl:ENST00000371766) - p.Met136Thr (Ensembl:ENST00000277508) - c.407T>C (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
COSV52986166 COSV52984737 | 139 | Y>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135564350C>G, NC_000009.12:g.135564350C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135564350C>G, NC_000009.12:g.135564350C>A Locations: - p.Tyr139Ter (cosmic curated:ENST00000371766) - c.417C>G (cosmic curated:ENST00000371766) - p.Tyr139Ter (cosmic curated:ENST00000277508) - c.417C>G (cosmic curated:ENST00000277508) - c.417C>A (cosmic curated:ENST00000277508) - c.417C>A (cosmic curated:ENST00000371766) Source type: large scale study Cross-references: | |||||||
COSV52986158 rs1832480062 | 139 | Y>H | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.25) Somatic: Yes Accession: NC_000009.12:g.135564348T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564348T>C Locations: - p.Tyr139His (Ensembl:ENST00000479141) - c.415T>C (Ensembl:ENST00000479141) - p.Tyr139His (Ensembl:ENST00000371766) - c.415T>C (Ensembl:ENST00000371766) - p.Tyr139His (Ensembl:ENST00000277508) - c.415T>C (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1424145039 | 140 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135564352T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135564352T>C Locations: - p.Leu140Pro (Ensembl:ENST00000479141) - c.419T>C (Ensembl:ENST00000479141) - p.Leu140Pro (Ensembl:ENST00000371766) - c.419T>C (Ensembl:ENST00000371766) - p.Leu140Pro (Ensembl:ENST00000277508) - c.419T>C (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs762888016 | 141 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.668) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.135565410C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565410C>T Locations: - p.Ala141Val (Ensembl:ENST00000479141) - c.422C>T (Ensembl:ENST00000479141) - p.Ala141Val (Ensembl:ENST00000371766) - c.422C>T (Ensembl:ENST00000371766) - p.Ala141Val (Ensembl:ENST00000277508) - c.422C>T (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs377698141 | 142 | R>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135565412A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565412A>G Locations: - p.Arg142Gly (Ensembl:ENST00000479141) - c.424A>G (Ensembl:ENST00000479141) - p.Arg142Gly (Ensembl:ENST00000371766) - c.424A>G (Ensembl:ENST00000371766) - p.Arg142Gly (Ensembl:ENST00000277508) - c.424A>G (Ensembl:ENST00000277508) Source type: large scale study | |||||||
rs1313510609 | 142 | R>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135565413G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565413G>A Locations: - p.Arg142Lys (Ensembl:ENST00000479141) - c.425G>A (Ensembl:ENST00000479141) - p.Arg142Lys (Ensembl:ENST00000371766) - c.425G>A (Ensembl:ENST00000371766) - p.Arg142Lys (Ensembl:ENST00000277508) - c.425G>A (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1313510609 | 142 | R>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135565413G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565413G>C Locations: - p.Arg142Thr (Ensembl:ENST00000277508) - c.425G>C (Ensembl:ENST00000277508) - p.Arg142Thr (Ensembl:ENST00000479141) - c.425G>C (Ensembl:ENST00000479141) - p.Arg142Thr (Ensembl:ENST00000371766) - c.425G>C (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs751398314 | 143 | V>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.545) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135565416T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565416T>A Locations: - p.Val143Asp (Ensembl:ENST00000277508) - c.428T>A (Ensembl:ENST00000277508) - p.Val143Asp (Ensembl:ENST00000479141) - c.428T>A (Ensembl:ENST00000479141) - p.Val143Asp (Ensembl:ENST00000371766) - c.428T>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
COSV99478825 | 143 | V>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.892) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.135565415G>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565415G>T Locations: - p.V143F (NCI-TCGA:ENST00000277508) - p.Val143Phe (cosmic curated:ENST00000277508) - c.427G>T (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs2119045353 | 143 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.545) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135565415G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565415G>A Locations: - p.Val143Ile (Ensembl:ENST00000479141) - c.427G>A (Ensembl:ENST00000479141) - p.Val143Ile (Ensembl:ENST00000277508) - c.427G>A (Ensembl:ENST00000277508) - p.Val143Ile (Ensembl:ENST00000371766) - c.427G>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs767248188 | 144 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000009.12:g.135565418C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565418C>G Locations: - p.Leu144Val (Ensembl:ENST00000479141) - c.430C>G (Ensembl:ENST00000479141) - p.Leu144Val (Ensembl:ENST00000277508) - c.430C>G (Ensembl:ENST00000277508) - p.Leu144Val (Ensembl:ENST00000371766) - c.430C>G (Ensembl:ENST00000371766) Source type: large scale study | |||||||
rs1832532618 | 145 | V>M | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000009.12:g.135565421G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565421G>A Locations: - p.Val145Met (Ensembl:ENST00000479141) - c.433G>A (Ensembl:ENST00000479141) - p.Val145Met (Ensembl:ENST00000277508) - c.433G>A (Ensembl:ENST00000277508) - p.Val145Met (Ensembl:ENST00000371766) - c.433G>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1564250960 | 146 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.425) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.135565424G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565424G>A Locations: - p.Glu146Lys (Ensembl:ENST00000277508) - c.436G>A (Ensembl:ENST00000277508) - p.Glu146Lys (Ensembl:ENST00000479141) - c.436G>A (Ensembl:ENST00000479141) - p.Glu146Lys (Ensembl:ENST00000371766) - c.436G>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs371322222 | 147 | D>N | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.836) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000009.12:g.135565427G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565427G>A Locations: - p.Asp147Asn (Ensembl:ENST00000371766) - c.439G>A (Ensembl:ENST00000371766) - p.Asp147Asn (Ensembl:ENST00000479141) - c.439G>A (Ensembl:ENST00000479141) - p.Asp147Asn (Ensembl:ENST00000277508) - c.439G>A (Ensembl:ENST00000277508) Source type: large scale study | |||||||
rs1832533406 | 148 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.346) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000009.12:g.135565432T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565432T>G Locations: - p.Asp148Glu (Ensembl:ENST00000371766) - c.444T>G (Ensembl:ENST00000371766) - p.Asp148Glu (Ensembl:ENST00000479141) - c.444T>G (Ensembl:ENST00000479141) - p.Asp148Glu (Ensembl:ENST00000277508) - c.444T>G (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
COSV52985143 rs779716594 | 148 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.223) - SIFT: tolerated (0.57) Somatic: Yes Population frequencies: - MAF: 0.00003579 (gnomAD) Accession: NC_000009.12:g.135565430G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565430G>A Locations: - p.D148N (NCI-TCGA:ENST00000479141) - p.D148N (NCI-TCGA:ENST00000371766) - p.D148N (NCI-TCGA:ENST00000277508) - p.Asp148Asn (Ensembl:ENST00000371766) - c.442G>A (Ensembl:ENST00000371766) - p.Asp148Asn (Ensembl:ENST00000277508) - c.442G>A (Ensembl:ENST00000277508) - p.Asp148Asn (Ensembl:ENST00000479141) - c.442G>A (Ensembl:ENST00000479141) Source type: large scale study | |||||||
TCGA novel | 149 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.871) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.135565435G>T Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565435G>T Locations: - c.447G>T (NCI-TCGA:ENST00000277508) - p.E149D (NCI-TCGA:ENST00000277508) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99478917 | 149 | E>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.464) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000009.12:g.135565434A>G Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565434A>G Locations: - p.E149G (NCI-TCGA:ENST00000277508) - p.Glu149Gly (cosmic curated:ENST00000277508) - c.446A>G (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
COSV99478964 | 149 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.388) - SIFT: tolerated (0.43) Somatic: Yes Accession: NC_000009.12:g.135565433G>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565433G>A Locations: - p.E149K (NCI-TCGA:ENST00000277508) - p.Glu149Lys (cosmic curated:ENST00000277508) - c.445G>A (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs150080982 | 151 | M>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.538) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000009.12:g.135565440T>G Codon: TGC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565440T>G Locations: - p.Met151Arg (Ensembl:ENST00000479141) - c.452T>G (Ensembl:ENST00000479141) - p.Met151Arg (Ensembl:ENST00000371766) - c.452T>G (Ensembl:ENST00000371766) - p.Met151Arg (Ensembl:ENST00000277508) - c.452T>G (Ensembl:ENST00000277508) Source type: large scale study | |||||||
rs150080982 | 151 | M>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000009.12:g.135565440T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565440T>C Locations: - p.Met151Thr (Ensembl:ENST00000277508) - c.452T>C (Ensembl:ENST00000277508) - p.Met151Thr (Ensembl:ENST00000479141) - c.452T>C (Ensembl:ENST00000479141) - p.Met151Thr (Ensembl:ENST00000371766) - c.452T>C (Ensembl:ENST00000371766) Source type: large scale study | |||||||
COSV99478855 rs754340819 | 151 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.664) - SIFT: tolerated (0.13) Somatic: Yes Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000009.12:g.135565439A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565439A>G Locations: - p.M151V (NCI-TCGA:ENST00000479141) - p.M151V (NCI-TCGA:ENST00000371766) - p.M151V (NCI-TCGA:ENST00000277508) - p.Met151Val (Ensembl:ENST00000371766) - c.451A>G (Ensembl:ENST00000371766) - p.Met151Val (Ensembl:ENST00000479141) - c.451A>G (Ensembl:ENST00000479141) - p.Met151Val (Ensembl:ENST00000277508) - c.451A>G (Ensembl:ENST00000277508) Source type: large scale study | |||||||
COSV106092638 | 152 | Q>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135565442C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135565442C>A Locations: - p.Gln152Lys (cosmic curated:ENST00000371766) - c.454C>A (cosmic curated:ENST00000371766) - p.Gln152Lys (cosmic curated:ENST00000277508) - c.454C>A (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs779108772 | 152 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135565443A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565443A>G Locations: - p.Gln152Arg (Ensembl:ENST00000371766) - c.455A>G (Ensembl:ENST00000371766) - p.Gln152Arg (Ensembl:ENST00000277508) - c.455A>G (Ensembl:ENST00000277508) - p.Gln152Arg (Ensembl:ENST00000479141) - c.455A>G (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs371952789 | 154 | F>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135565448T>A Codon: TTC/ATC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565448T>A Locations: - p.Phe154Ile (Ensembl:ENST00000277508) - c.460T>A (Ensembl:ENST00000277508) - p.Phe154Ile (Ensembl:ENST00000479141) - c.460T>A (Ensembl:ENST00000479141) - p.Phe154Ile (Ensembl:ENST00000371766) - c.460T>A (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs371952789 | 154 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135565448T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565448T>C Locations: - p.Phe154Leu (Ensembl:ENST00000371766) - c.460T>C (Ensembl:ENST00000371766) - p.Phe154Leu (Ensembl:ENST00000277508) - c.460T>C (Ensembl:ENST00000277508) - p.Phe154Leu (Ensembl:ENST00000479141) - c.460T>C (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
TCGA novel | 156 | R>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000009.12:g.135565454A>G Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565454A>G Locations: - c.466A>G (NCI-TCGA:ENST00000277508) - p.R156G (NCI-TCGA:ENST00000277508) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99478865 | 156 | R>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135565455G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135565455G>T Locations: - p.Arg156Met (cosmic curated:ENST00000277508) - c.467G>T (cosmic curated:ENST00000277508) - p.Arg156Met (cosmic curated:ENST00000371766) - c.467G>T (cosmic curated:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1299672454 | 156 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.85) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.135565455G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565455G>C Locations: - p.Arg156Thr (Ensembl:ENST00000479141) - c.467G>C (Ensembl:ENST00000479141) - p.Arg156Thr (Ensembl:ENST00000371766) - c.467G>C (Ensembl:ENST00000371766) - p.Arg156Thr (Ensembl:ENST00000277508) - c.467G>C (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1420010307 | 157 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.801) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000009.12:g.135565458C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565458C>T Locations: - p.Ala157Val (Ensembl:ENST00000371766) - c.470C>T (Ensembl:ENST00000371766) - p.Ala157Val (Ensembl:ENST00000277508) - c.470C>T (Ensembl:ENST00000277508) - p.Ala157Val (Ensembl:ENST00000479141) - c.470C>T (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs758531872 | 158 | F>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135565461T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565461T>C Locations: - p.Phe158Ser (Ensembl:ENST00000371766) - c.473T>C (Ensembl:ENST00000371766) - p.Phe158Ser (Ensembl:ENST00000277508) - c.473T>C (Ensembl:ENST00000277508) - p.Phe158Ser (Ensembl:ENST00000479141) - c.473T>C (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs141511524 | 159 | R>G | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.545) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135565463A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565463A>G Locations: - p.Arg159Gly (Ensembl:ENST00000371766) - c.475A>G (Ensembl:ENST00000371766) - p.Arg159Gly (Ensembl:ENST00000277508) - c.475A>G (Ensembl:ENST00000277508) - p.Arg159Gly (Ensembl:ENST00000479141) - c.475A>G (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
COSV99478868 rs373981009 | 160 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000009.12:g.135565467C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565467C>A Locations: - p.P160H (NCI-TCGA:ENST00000479141) - p.P160H (NCI-TCGA:ENST00000371766) - p.P160H (NCI-TCGA:ENST00000277508) - p.Pro160His (Ensembl:ENST00000479141) - c.479C>A (Ensembl:ENST00000479141) - p.Pro160His (Ensembl:ENST00000277508) - c.479C>A (Ensembl:ENST00000277508) - p.Pro160His (Ensembl:ENST00000371766) - c.479C>A (Ensembl:ENST00000371766) Source type: large scale study | |||||||
rs373981009 | 160 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.483) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000009.12:g.135565467C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565467C>T Locations: - p.Pro160Leu (Ensembl:ENST00000371766) - c.479C>T (Ensembl:ENST00000371766) - p.Pro160Leu (Ensembl:ENST00000479141) - c.479C>T (Ensembl:ENST00000479141) - p.Pro160Leu (Ensembl:ENST00000277508) - c.479C>T (Ensembl:ENST00000277508) Source type: large scale study | |||||||
COSV52985321 rs543583253 | 160 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.185) - SIFT: tolerated (0.44) Somatic: Yes Population frequencies: - MAF: 0.000003977 (gnomAD) Accession: NC_000009.12:g.135565466C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565466C>T Locations: - p.P160S (NCI-TCGA:ENST00000479141) - p.P160S (NCI-TCGA:ENST00000371766) - p.P160S (NCI-TCGA:ENST00000277508) - p.Pro160Ser (Ensembl:ENST00000479141) - c.478C>T (Ensembl:ENST00000479141) - p.Pro160Ser (Ensembl:ENST00000371766) - c.478C>T (Ensembl:ENST00000371766) - p.Pro160Ser (Ensembl:ENST00000277508) - c.478C>T (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs543583253 | 160 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (1) Somatic: No Accession: NC_000009.12:g.135565466C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565466C>A Locations: - p.Pro160Thr (Ensembl:ENST00000479141) - c.478C>A (Ensembl:ENST00000479141) - p.Pro160Thr (Ensembl:ENST00000371766) - c.478C>A (Ensembl:ENST00000371766) - p.Pro160Thr (Ensembl:ENST00000277508) - c.478C>A (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs776711925 | 162 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.668) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135565473C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565473C>T Locations: - p.Pro162Leu (Ensembl:ENST00000479141) - c.485C>T (Ensembl:ENST00000479141) - p.Pro162Leu (Ensembl:ENST00000371766) - c.485C>T (Ensembl:ENST00000371766) - p.Pro162Leu (Ensembl:ENST00000277508) - c.485C>T (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
COSV52986141 | 164 | H>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.678) - SIFT: tolerated (0.15) Somatic: Yes Accession: NC_000009.12:g.135565478C>A Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565478C>A Locations: - p.H164N (NCI-TCGA:ENST00000277508) - p.His164Asn (cosmic curated:ENST00000277508) - c.490C>A (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1832535669 | 164 | H>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000009.12:g.135565480C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565480C>A Locations: - p.His164Gln (Ensembl:ENST00000371766) - c.492C>A (Ensembl:ENST00000371766) - p.His164Gln (Ensembl:ENST00000479141) - c.492C>A (Ensembl:ENST00000479141) - p.His164Gln (Ensembl:ENST00000277508) - c.492C>A (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
COSV99478883 | 166 | W>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135565485G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135565485G>A Locations: - p.Trp166Ter (cosmic curated:ENST00000277508) - c.497G>A (cosmic curated:ENST00000277508) - p.Trp166Ter (cosmic curated:ENST00000371766) - c.497G>A (cosmic curated:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs1185997532 | 166 | W>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.755) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000009.12:g.135565484T>G Codon: TAT/TAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565484T>G Locations: - p.Trp166Gly (Ensembl:ENST00000277508) - c.496T>G (Ensembl:ENST00000277508) - p.Trp166Gly (Ensembl:ENST00000371766) - c.496T>G (Ensembl:ENST00000371766) - p.Trp166Gly (Ensembl:ENST00000479141) - c.496T>G (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs773993548 | 170 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000009.12:g.135565497A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565497A>G Locations: - p.Asp170Gly (Ensembl:ENST00000371766) - c.509A>G (Ensembl:ENST00000371766) - p.Asp170Gly (Ensembl:ENST00000479141) - c.509A>G (Ensembl:ENST00000479141) - p.Asp170Gly (Ensembl:ENST00000277508) - c.509A>G (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
COSV52986071 | 174 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135565510G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135565510G>A Locations: - p.Met174Ile (cosmic curated:ENST00000277508) - c.522G>A (cosmic curated:ENST00000277508) - p.Met174Ile (cosmic curated:ENST00000371766) - c.522G>A (cosmic curated:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs144616486 | 174 | M>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000009.12:g.135565508A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565508A>T Locations: - p.Met174Leu (Ensembl:ENST00000479141) - c.520A>T (Ensembl:ENST00000479141) - p.Met174Leu (Ensembl:ENST00000277508) - c.520A>T (Ensembl:ENST00000277508) - p.Met174Leu (Ensembl:ENST00000371766) - c.520A>T (Ensembl:ENST00000371766) Source type: large scale study | |||||||
rs572439418 | 174 | M>T | Likely benign (Ensembl) | 1000Genomes ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000009.12:g.135565509T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565509T>C Locations: - p.Met174Thr (Ensembl:ENST00000277508) - c.521T>C (Ensembl:ENST00000277508) - p.Met174Thr (Ensembl:ENST00000479141) - c.521T>C (Ensembl:ENST00000479141) - p.Met174Thr (Ensembl:ENST00000371766) - c.521T>C (Ensembl:ENST00000371766) Source type: large scale study | |||||||
rs1832536688 | 175 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000009.12:g.135565512A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565512A>G Locations: - p.Glu175Gly (Ensembl:ENST00000371766) - c.524A>G (Ensembl:ENST00000371766) - p.Glu175Gly (Ensembl:ENST00000479141) - c.524A>G (Ensembl:ENST00000479141) - p.Glu175Gly (Ensembl:ENST00000277508) - c.524A>G (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
COSV52986464 | 175 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135565511G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135565511G>A Locations: - p.Glu175Lys (cosmic curated:ENST00000371766) - c.523G>A (cosmic curated:ENST00000371766) - p.Glu175Lys (cosmic curated:ENST00000277508) - c.523G>A (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1437461350 | 176 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.135565514G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565514G>T Locations: - p.Glu176Ter (Ensembl:ENST00000479141) - c.526G>T (Ensembl:ENST00000479141) - p.Glu176Ter (Ensembl:ENST00000371766) - c.526G>T (Ensembl:ENST00000371766) - p.Glu176Ter (Ensembl:ENST00000277508) - c.526G>T (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs1339576966 | 176 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.135565786G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565786G>T Locations: - p.Glu176Asp (Ensembl:ENST00000371766) - c.528G>T (Ensembl:ENST00000371766) - p.Glu176Asp (Ensembl:ENST00000277508) - c.528G>T (Ensembl:ENST00000277508) - p.Glu176Asp (Ensembl:ENST00000479141) - c.528G>T (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
rs1437461350 | 176 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135565514G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565514G>A Locations: - p.Glu176Lys (Ensembl:ENST00000371766) - c.526G>A (Ensembl:ENST00000371766) - p.Glu176Lys (Ensembl:ENST00000277508) - c.526G>A (Ensembl:ENST00000277508) - p.Glu176Lys (Ensembl:ENST00000479141) - c.526G>A (Ensembl:ENST00000479141) Source type: large scale study Cross-references: | |||||||
COSV52986494 | 177 | P>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135565787C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135565787C>G Locations: - p.Pro177Ala (cosmic curated:ENST00000371766) - c.529C>G (cosmic curated:ENST00000371766) - p.Pro177Ala (cosmic curated:ENST00000277508) - c.529C>G (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
COSV52984615 | 177 | PC>DE | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000009.12:g.135565787-135565801CCGTGCCGTTTCTAG> Consequence type: missense Cytogenetic band: Genomic location: NC_000009.12:g.135565787-135565801CCGTGCCGTTTCTAG> Locations: - p.ProCysArgPheTer177AspGluLeuGluUnkThrTer? (cosmic curated:ENST00000277508) - c.529_543del (cosmic curated:ENST00000277508) Source type: large scale study Cross-references: | |||||||
COSV105835875 rs751907235 | 177 | P>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000009.12:g.135565788C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565788C>T Locations: - p.Pro177Leu (Ensembl:ENST00000479141) - c.530C>T (Ensembl:ENST00000479141) - p.Pro177Leu (Ensembl:ENST00000277508) - c.530C>T (Ensembl:ENST00000277508) - p.Pro177Leu (Ensembl:ENST00000371766) - c.530C>T (Ensembl:ENST00000371766) Source type: large scale study Cross-references: | |||||||
rs750586274 | 179 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000007953 (gnomAD) Accession: NC_000009.12:g.135565793C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565793C>T Locations: - p.R179C (NCI-TCGA:ENST00000479141) - p.R179C (NCI-TCGA:ENST00000371766) - p.R179C (NCI-TCGA:ENST00000277508) - p.Arg179Cys (Ensembl:ENST00000371766) - c.535C>T (Ensembl:ENST00000371766) - p.Arg179Cys (Ensembl:ENST00000479141) - c.535C>T (Ensembl:ENST00000479141) - p.Arg179Cys (Ensembl:ENST00000277508) - c.535C>T (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs750586274 | 179 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.135565793C>G Codon: CGT/GGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565793C>G Locations: - p.Arg179Gly (Ensembl:ENST00000371766) - c.535C>G (Ensembl:ENST00000371766) - p.Arg179Gly (Ensembl:ENST00000479141) - c.535C>G (Ensembl:ENST00000479141) - p.Arg179Gly (Ensembl:ENST00000277508) - c.535C>G (Ensembl:ENST00000277508) Source type: large scale study | |||||||
COSV52984886 RCV000885458 rs143616209 | 179 | R>H | Likely benign (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.1) Somatic: Yes Population frequencies: - MAF: 0.0008 (ClinVar) Accession: NC_000009.12:g.135565794G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565794G>A Locations: - p.Arg179His (Ensembl:ENST00000479141) - c.536G>A (Ensembl:ENST00000479141) - p.Arg179His (Ensembl:ENST00000371766) - c.536G>A (Ensembl:ENST00000371766) - p.Arg179His (Ensembl:ENST00000277508) - c.536G>A (Ensembl:ENST00000277508) Source type: large scale study | |||||||
rs143616209 | 179 | R>L | Likely benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.627) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.135565794G>T Codon: CGT/CTT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565794G>T Locations: - p.Arg179Leu (Ensembl:ENST00000371766) - c.536G>T (Ensembl:ENST00000371766) - p.Arg179Leu (Ensembl:ENST00000479141) - c.536G>T (Ensembl:ENST00000479141) - p.Arg179Leu (Ensembl:ENST00000277508) - c.536G>T (Ensembl:ENST00000277508) Source type: large scale study Cross-references: | |||||||
rs750586274 | 179 | R>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.552) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.135565793C>A Codon: CGT/AGT Consequence type: missense Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565793C>A Locations: - p.Arg179Ser (Ensembl:ENST00000371766) - c.535C>A (Ensembl:ENST00000371766) - p.Arg179Ser (Ensembl:ENST00000277508) - c.535C>A (Ensembl:ENST00000277508) - p.Arg179Ser (Ensembl:ENST00000479141) - c.535C>A (Ensembl:ENST00000479141) Source type: large scale study | |||||||
rs780143041 | 181 | *>W | ExAC gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000009.12:g.135565800A>G Codon: TAG/TGG Consequence type: stop lost Cytogenetic band: 9q34.3 Genomic location: NC_000009.12:g.135565800A>G Locations: - p.Ter181TrpextTer69 (Ensembl:ENST00000479141) - c.542A>G (Ensembl:ENST00000479141) - p.Ter181TrpextTer? (Ensembl:ENST00000277508) - c.542A>G (Ensembl:ENST00000277508) - p.Ter181TrpextTer11 (Ensembl:ENST00000371766) - c.542A>G (Ensembl:ENST00000371766) Source type: large scale study Cross-references: |