Q6P3W2 · DJC24_HUMAN
- ProteinDnaJ homolog subfamily C member 24
- GeneDNAJC24
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids149 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs753116558 | 3 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.161) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000011.10:g.31370755G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370755G>A Locations: - p.Ala3Thr (Ensembl:ENST00000465995) - c.7G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
COSV60841824 rs1203225587 | 3 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.434) - SIFT: deleterious (0) - PolyPhen: benign (0.245) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.00001231 (gnomAD) Accession: NC_000011.10:g.31370756C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370756C>T Locations: - p.A3V (NCI-TCGA:ENST00000465995) - p.Ala3Val (Ensembl:ENST00000465995) - c.8C>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1591893473 | 4 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000011.10:g.31370759T>G Codon: GTT/GGT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370759T>G Locations: - p.Val4Gly (Ensembl:ENST00000465995) - c.11T>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs761121050 | 6 | Q>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.31370764C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370764C>T Locations: - p.Gln6Ter (Ensembl:ENST00000465995) - c.16C>T (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs761121050 | 6 | Q>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000011.10:g.31370764C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370764C>G Locations: - p.Gln6Glu (Ensembl:ENST00000465995) - c.16C>G (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs1952225270 | 6 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000011.10:g.31370766G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370766G>C Locations: - p.Gln6His (Ensembl:ENST00000465995) - c.18G>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs761121050 | 6 | Q>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000011.10:g.31370764C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370764C>A Locations: - p.Gln6Lys (Ensembl:ENST00000465995) - c.16C>A (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs754093386 | 6 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.25) - PolyPhen: benign (0.01) - SIFT: tolerated (0.41) Somatic: No Population frequencies: - MAF: 0.000004077 (gnomAD) Accession: NC_000011.10:g.31370765A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370765A>G Locations: - p.Q6R (NCI-TCGA:ENST00000465995) - p.Gln6Arg (Ensembl:ENST00000465995) - c.17A>G (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs1430848553 | 7 | M>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000011.10:g.31370767A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370767A>T Locations: - p.Met7Leu (Ensembl:ENST00000465995) - c.19A>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1430848553 | 7 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000011.10:g.31370767A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370767A>G Locations: - p.Met7Val (Ensembl:ENST00000465995) - c.19A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs779068747 | 9 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000011.10:g.31370773A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370773A>G Locations: - p.Lys9Glu (Ensembl:ENST00000465995) - c.25A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
TCGA novel | 10 | K>R | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000011.10:g.31370772del Consequence type: frameshift Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370772del Locations: - c.29del (NCI-TCGA:ENST00000465995) - p.K10Rfs*18 (NCI-TCGA:ENST00000465995) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs200437843 | 12 | W>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31370784G>C Codon: TGG/TGC Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370784G>C Locations: - p.Trp12Cys (Ensembl:ENST00000465995) - c.36G>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs924887242 | 12 | W>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.502) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31370782T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370782T>C Locations: - p.Trp12Arg (Ensembl:ENST00000465995) - c.34T>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
COSV60832910 rs750408613 | 13 | Y>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000004025 (gnomAD) Accession: NC_000011.10:g.31370787C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370787C>A Locations: - p.Y13* (NCI-TCGA:ENST00000465995) - p.Tyr13Ter (Ensembl:ENST00000465995) - c.39C>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
COSV60836328 | 14 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000011.10:g.31370789G>T Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370789G>T Locations: - c.41G>T (NCI-TCGA:ENST00000465995) - p.S14I (NCI-TCGA:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1952226045 | 14 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.31370789G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370789G>A Locations: - p.Ser14Asn (Ensembl:ENST00000465995) - c.41G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs754945097 | 14 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000011.10:g.31370790C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370790C>A Locations: - p.Ser14Arg (Ensembl:ENST00000465995) - c.42C>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1952226264 | 15 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31370792T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370792T>C Locations: - p.Ile15Thr (Ensembl:ENST00000465995) - c.44T>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1591893600 | 17 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.9) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31370797G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370797G>A Locations: - p.Gly17Arg (Ensembl:ENST00000465995) - c.49G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs942597517 | 19 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000011.10:g.31370805C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370805C>A Locations: - p.Asp19Glu (Ensembl:ENST00000465995) - c.57C>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1952226840 | 20 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.31370806C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370806C>T Locations: - p.Pro20Ser (Ensembl:ENST00000465995) - c.58C>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
VAR_036397 rs111299050 | 23 | N>D | a breast cancer sample; somatic mutation (UniProt) | Variant of uncertain significance (UniProt) | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000011.10:g.31370815A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370815A>G Locations: - p.Asn23Asp (UniProt:Q6P3W2) Source type: mixed | |||||||
rs1952227342 | 24 | I>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31370819T>A Codon: ATA/AAA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370819T>A Locations: - p.Ile24Lys (Ensembl:ENST00000465995) - c.71T>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1326580928 | 24 | I>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.31370820A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370820A>G Locations: - p.Ile24Met (Ensembl:ENST00000465995) - c.72A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs769552883 | 24 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.31370818A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370818A>G Locations: - p.Ile24Val (Ensembl:ENST00000465995) - c.70A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs777441540 | 26 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.31370826C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370826C>G Locations: - p.Asp26Glu (Ensembl:ENST00000465995) - c.78C>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1321155545 | 28 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.925) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31370830A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370830A>C Locations: - p.Lys28Gln (Ensembl:ENST00000465995) - c.82A>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs748971917 | 28 | K>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.892) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.31370831A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370831A>C Locations: - p.Lys28Thr (Ensembl:ENST00000465995) - c.83A>C (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs1438422426 | 33 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31370845A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370845A>G Locations: - p.Lys33Glu (Ensembl:ENST00000465995) - c.97A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
TCGA novel | 33 | K>N | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000011.10:g.31370843del Consequence type: frameshift Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370843del Locations: - c.99del (NCI-TCGA:ENST00000465995) - p.K33Nfs*4 (NCI-TCGA:ENST00000465995) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1057193212 | 34 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.474) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.31370849T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370849T>G Locations: - p.Leu34Arg (Ensembl:ENST00000465995) - c.101T>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs367917727 | 35 | I>M | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.31370853A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370853A>G Locations: - p.Ile35Met (Ensembl:ENST00000465995) - c.105A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1952228730 | 35 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.97) Somatic: No Accession: NC_000011.10:g.31370851A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370851A>G Locations: - p.Ile35Val (Ensembl:ENST00000465995) - c.103A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1952229314 | 37 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000011.10:g.31370857A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31370857A>G Locations: - p.Met37Val (Ensembl:ENST00000465995) - c.109A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs778680263 | 38 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.658) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.31414812A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414812A>G Locations: - p.Tyr38Cys (Ensembl:ENST00000465995) - c.113A>G (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs1179679068 | 38 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.274) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.31414811T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414811T>C Locations: - p.Tyr38His (Ensembl:ENST00000465995) - c.112T>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs2133497840 | 39 | H>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31414814C>G Codon: CAT/GAT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414814C>G Locations: - p.His39Asp (Ensembl:ENST00000465995) - c.115C>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1460623477 | 41 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31414822T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414822T>G Locations: - p.Asp41Glu (Ensembl:ENST00000465995) - c.123T>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs538538453 | 41 | D>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31414820G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414820G>C Locations: - p.Asp41His (Ensembl:ENST00000465995) - c.121G>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs538538453 | 41 | D>N | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31414820G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414820G>A Locations: - p.Asp41Asn (Ensembl:ENST00000465995) - c.121G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1231253048 | 43 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.244) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.31414828A>C Codon: CAA/CAC Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414828A>C Locations: - p.Gln43His (Ensembl:ENST00000465995) - c.129A>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs373436499 | 43 | Q>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000011.10:g.31414827A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414827A>G Locations: - p.Gln43Arg (Ensembl:ENST00000465995) - c.128A>G (Ensembl:ENST00000465995) Source type: large scale study | |||||||
COSV71938841 | 44 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000011.10:g.31414830G>T Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414830G>T Locations: - c.131G>T (NCI-TCGA:ENST00000465995) - p.S44I (NCI-TCGA:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1348352140 | 44 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000011.10:g.31414830G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414830G>A Locations: - p.Ser44Asn (Ensembl:ENST00000465995) - c.131G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1952738949 | 44 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000011.10:g.31414829A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414829A>C Locations: - p.Ser44Arg (Ensembl:ENST00000465995) - c.130A>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs746450440 | 46 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31414835G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414835G>C Locations: - p.Asp46His (Ensembl:ENST00000465995) - c.136G>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs554061713 | 47 | V>A | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000011.10:g.31414839T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414839T>C Locations: - p.Val47Ala (Ensembl:ENST00000465995) - c.140T>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs747408168 | 47 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.31414838G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414838G>A Locations: - p.Val47Ile (Ensembl:ENST00000465995) - c.139G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1952739114 | 48 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000011.10:g.31414841C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414841C>T Locations: - p.Pro48Ser (Ensembl:ENST00000465995) - c.142C>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1282315281 | 49 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000011.10:g.31414844G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414844G>T Locations: - p.Ala49Ser (Ensembl:ENST00000465995) - c.145G>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
COSV71938862 | 50 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: tolerated (0.4) Somatic: Yes Accession: NC_000011.10:g.31414848G>A Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414848G>A Locations: - c.149G>A (NCI-TCGA:ENST00000465995) - p.G50E (NCI-TCGA:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1444209603 | 51 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000011.10:g.31414850A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414850A>G Locations: - p.Thr51Ala (Ensembl:ENST00000465995) - c.151A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs748594924 | 52 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.31414854T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414854T>C Locations: - p.Val52Ala (Ensembl:ENST00000465995) - c.155T>C (Ensembl:ENST00000465995) Source type: large scale study | |||||||
COSV101519667 | 53 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000011.10:g.31414856G>T Consequence type: stop gained Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414856G>T Locations: - c.157G>T (NCI-TCGA:ENST00000465995) - p.E53* (NCI-TCGA:ENST00000465995) Source type: large scale study Cross-references: | |||||||
COSV71938607 | 54 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000011.10:g.31414859G>T Consequence type: stop gained Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414859G>T Locations: - c.160G>T (NCI-TCGA:ENST00000465995) - p.E54* (NCI-TCGA:ENST00000465995) Source type: large scale study Cross-references: | |||||||
COSV71938607 | 54 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000011.10:g.31414859G>A Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414859G>A Locations: - c.160G>A (NCI-TCGA:ENST00000465995) - p.E54K (NCI-TCGA:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs770022608 | 55 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.31414863G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414863G>A Locations: - p.Cys55Tyr (Ensembl:ENST00000465995) - c.164G>A (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs1952739266 | 58 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.31414873G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414873G>C Locations: - p.Lys58Asn (Ensembl:ENST00000465995) - c.174G>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1591918411 | 59 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31414876C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414876C>G Locations: - p.Phe59Leu (Ensembl:ENST00000465995) - c.177C>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1474400772 | 59 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31414875T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414875T>C Locations: - p.Phe59Ser (Ensembl:ENST00000465995) - c.176T>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs11552244 | 60 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.31414877A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414877A>G Locations: - p.Ile60Val (Ensembl:ENST00000465995) - c.178A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
COSV71938535 rs2133497891 | 61 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.878) - SIFT: tolerated (0.08) - PolyPhen: benign (0.04) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.31414880G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414880G>A Locations: - p.E61K (NCI-TCGA:ENST00000465995) - p.Glu61Lys (Ensembl:ENST00000465995) - c.181G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1036572038 | 63 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.31414886G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414886G>A Locations: - p.Asp63Asn (Ensembl:ENST00000465995) - c.187G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs375514504 | 65 | A>T | ESP ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31414892G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414892G>A Locations: - p.Ala65Thr (Ensembl:ENST00000465995) - c.193G>A (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs1952739491 | 66 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.31414896G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414896G>A Locations: - p.Trp66Ter (Ensembl:ENST00000465995) - c.197G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs766531883 | 66 | W>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.31414897G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414897G>A Locations: - p.Trp66Ter (Ensembl:ENST00000465995) - c.198G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs763105799 | 66 | W>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.699) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31414895T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414895T>C Locations: - p.Trp66Arg (Ensembl:ENST00000465995) - c.196T>C (Ensembl:ENST00000465995) Source type: large scale study | |||||||
COSV71938779 | 67 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.31414899A>C Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414899A>C Locations: - c.200A>C (NCI-TCGA:ENST00000465995) - p.K67T (NCI-TCGA:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1399168634 | 68 | I>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.487) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31414902T>G Codon: ATT/AGT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414902T>G Locations: - p.Ile68Ser (Ensembl:ENST00000465995) - c.203T>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs201981981 | 71 | N>D | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000011.10:g.31414910A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414910A>G Locations: - p.Asn71Asp (Ensembl:ENST00000465995) - c.211A>G (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs368900665 | 72 | E>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.31414913G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414913G>T Locations: - p.Glu72Ter (Ensembl:ENST00000465995) - c.214G>T (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs764077492 | 72 | E>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31414914A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414914A>G Locations: - p.Glu72Gly (Ensembl:ENST00000465995) - c.215A>G (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs764077492 | 72 | E>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31414914A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414914A>T Locations: - p.Glu72Val (Ensembl:ENST00000465995) - c.215A>T (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs753700947 | 73 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.31414918G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414918G>C Locations: - p.Glu73Asp (Ensembl:ENST00000465995) - c.219G>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1334348515 | 73 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.31414916G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414916G>A Locations: - p.Glu73Lys (Ensembl:ENST00000465995) - c.217G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1159489930 | 74 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31414920C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414920C>T Locations: - p.Thr74Ile (Ensembl:ENST00000465995) - c.221C>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs757119357 | 75 | K>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.31414922A>T Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414922A>T Locations: - p.Lys75Ter (Ensembl:ENST00000465995) - c.223A>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
TCGA novel | 76 | R>E | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000011.10:g.31414921del Consequence type: frameshift Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414921del Locations: - c.226del (NCI-TCGA:ENST00000465995) - p.R76Efs*12 (NCI-TCGA:ENST00000465995) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs372428770 | 78 | Y>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31414932A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414932A>G Locations: - p.Tyr78Cys (Ensembl:ENST00000465995) - c.233A>G (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs750187354 | 80 | L>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31414938T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414938T>G Locations: - p.Leu80Arg (Ensembl:ENST00000465995) - c.239T>G (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs779845550 | 82 | R>L | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000011.10:g.31414944G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414944G>T Locations: - p.Arg82Leu (Ensembl:ENST00000465995) - c.245G>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs779845550 | 82 | R>Q | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000011.10:g.31414944G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414944G>A Locations: - p.Arg82Gln (Ensembl:ENST00000465995) - c.245G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs559918901 | 82 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.111) - SIFT: tolerated (0.08) - PolyPhen: benign (0.149) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000011.10:g.31414943C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414943C>T Locations: - p.R82W (NCI-TCGA:ENST00000465995) - p.Arg82Trp (Ensembl:ENST00000465995) - c.244C>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1201125671 | 83 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.31414946T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414946T>C Locations: - p.Cys83Arg (Ensembl:ENST00000465995) - c.247T>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1952740010 | 83 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31414947G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31414947G>A Locations: - p.Cys83Tyr (Ensembl:ENST00000465995) - c.248G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1321378182 | 84 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000011.10:g.31426288A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426288A>T Locations: - p.Glu84Asp (Ensembl:ENST00000465995) - c.252A>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1361510736 | 85 | D>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000011.10:g.31426291T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426291T>A Locations: - p.Asp85Glu (Ensembl:ENST00000465995) - c.255T>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1380687591 | 86 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31426293A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426293A>G Locations: - p.Asp86Gly (Ensembl:ENST00000465995) - c.257A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1315115933 | 87 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.445) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31426295C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426295C>G Locations: - p.Leu87Val (Ensembl:ENST00000465995) - c.259C>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
COSV67917267 | 90 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.72) Somatic: Yes Accession: NC_000011.10:g.31426305T>C Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426305T>C Locations: - c.269T>C (NCI-TCGA:ENST00000465995) - p.V90A (NCI-TCGA:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1952860425 | 90 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000011.10:g.31426304G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426304G>A Locations: - p.Val90Ile (Ensembl:ENST00000465995) - c.268G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1233077178 | 91 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.31426307G>C Codon: GGA/CGA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426307G>C Locations: - p.Gly91Arg (Ensembl:ENST00000465995) - c.271G>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
TCGA novel | 91 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.944) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000011.10:g.31426308G>T Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426308G>T Locations: - c.272G>T (NCI-TCGA:ENST00000465995) - p.G91V (NCI-TCGA:ENST00000465995) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1271797630 | 92 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31426311C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426311C>T Locations: - p.Pro92Leu (Ensembl:ENST00000465995) - c.275C>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1952860570 | 93 | V>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31426314T>G Codon: GTA/GGA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426314T>G Locations: - p.Val93Gly (Ensembl:ENST00000465995) - c.278T>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1331889410 | 93 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.31426313G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426313G>A Locations: - p.Val93Ile (Ensembl:ENST00000465995) - c.277G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs144649932 | 94 | D>G | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.31426317A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426317A>G Locations: - p.Asp94Gly (Ensembl:ENST00000465995) - c.281A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs769673731 | 94 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.31426316G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426316G>A Locations: - p.Asp94Asn (Ensembl:ENST00000465995) - c.280G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs144649932 | 94 | D>V | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31426317A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426317A>T Locations: - p.Asp94Val (Ensembl:ENST00000465995) - c.281A>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
COSV67917256 | 96 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated (0.23) Somatic: Yes Accession: NC_000011.10:g.31426322C>G Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426322C>G Locations: - c.286C>G (NCI-TCGA:ENST00000465995) - p.Q96E (NCI-TCGA:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1952860658 | 97 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000011.10:g.31426325G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426325G>A Locations: - p.Val97Ile (Ensembl:ENST00000465995) - c.289G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1952860714 | 98 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000011.10:g.31426328T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426328T>C Locations: - p.Tyr98His (Ensembl:ENST00000465995) - c.292T>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs751350478 | 99 | L>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.31426332T>A Codon: CTT/CAT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426332T>A Locations: - p.Leu99His (Ensembl:ENST00000465995) - c.296T>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs766307254 | 99 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious (0.04) - PolyPhen: probably damaging (0.943) - SIFT: tolerated (0.13) Somatic: No Population frequencies: - MAF: 0.00000492 (gnomAD) Accession: NC_000011.10:g.31426331C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426331C>G Locations: - p.L99V (NCI-TCGA:ENST00000465995) - p.Leu99Val (Ensembl:ENST00000465995) - c.295C>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
COSV101231528 | 101 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000011.10:g.31426337G>T Consequence type: stop gained Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426337G>T Locations: - c.301G>T (NCI-TCGA:ENST00000465995) - p.E101* (NCI-TCGA:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1591923840 | 101 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31426337G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426337G>A Locations: - p.Glu101Lys (Ensembl:ENST00000465995) - c.301G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
COSV67917398 | 103 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000011.10:g.31426344C>A Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426344C>A Locations: - c.308C>A (NCI-TCGA:ENST00000465995) - p.S103Y (NCI-TCGA:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1952860830 | 104 | W>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31426346T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426346T>C Locations: - p.Trp104Arg (Ensembl:ENST00000465995) - c.310T>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs2133506807 | 105 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31426351T>G Codon: AAT/AAG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31426351T>G Locations: - p.Asn105Lys (Ensembl:ENST00000465995) - c.315T>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1952906729 | 107 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31430271G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430271G>T Locations: - p.Gly107Val (Ensembl:ENST00000465995) - c.320G>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1448573419 | 108 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.31430274A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430274A>G Locations: - p.Asp108Gly (Ensembl:ENST00000465995) - c.323A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
COSV99540935 | 109 | H>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.63) Somatic: Yes Accession: NC_000011.10:g.31430278C>A Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430278C>A Locations: - c.327C>A (NCI-TCGA:ENST00000465995) - p.H109Q (NCI-TCGA:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs2133510605 | 111 | F>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.67) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31430282T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430282T>A Locations: - p.Phe111Ile (Ensembl:ENST00000465995) - c.331T>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1294634870 | 113 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31430288C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430288C>A Locations: - p.Leu113Met (Ensembl:ENST00000465995) - c.337C>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1591925823 | 113 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.31430289T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430289T>C Locations: - p.Leu113Pro (Ensembl:ENST00000465995) - c.338T>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs763627880 | 114 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.31430292G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430292G>A Locations: - p.Ser114Asn (Ensembl:ENST00000465995) - c.341G>A (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs374683494 | 114 | S>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000011.10:g.31430293T>A Codon: AGT/AGA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430293T>A Locations: - p.Ser114Arg (Ensembl:ENST00000465995) - c.342T>A (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs757778452 | 117 | C>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31430300T>G Codon: TGT/GGT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430300T>G Locations: - p.Cys117Gly (Ensembl:ENST00000465995) - c.349T>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1364768409 | 118 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31430303G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430303G>A Locations: - p.Gly118Ser (Ensembl:ENST00000465995) - c.352G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1343903025 | 118 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31430304G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430304G>T Locations: - p.Gly118Val (Ensembl:ENST00000465995) - c.353G>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1272093786 | 119 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31430307G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430307G>A Locations: - p.Gly119Glu (Ensembl:ENST00000465995) - c.356G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1437519130 | 119 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31430306G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430306G>A Locations: - p.Gly119Arg (Ensembl:ENST00000465995) - c.355G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs929148769 | 120 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.31430309A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430309A>G Locations: - p.Lys120Glu (Ensembl:ENST00000465995) - c.358A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs929148769 | 120 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000011.10:g.31430309A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430309A>C Locations: - p.Lys120Gln (Ensembl:ENST00000465995) - c.358A>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1952907539 | 121 | Y>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.31430313_31430314insAAACAAAGAAGCT Codon: TAC/TAAAACAAAGAAGCTC Consequence type: stop gained Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430313_31430314insAAACAAAGAAGCT Locations: - p.Tyr121Ter (Ensembl:ENST00000465995) - c.362_363insAAACAAAGAAGCT (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1387863788 | 121 | Y>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.31430314C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430314C>G Locations: - p.Tyr121Ter (Ensembl:ENST00000465995) - c.363C>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1952907503 | 121 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31430312T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430312T>C Locations: - p.Tyr121His (Ensembl:ENST00000465995) - c.361T>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1952907635 | 122 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000011.10:g.31430315A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430315A>G Locations: - p.Ser122Gly (Ensembl:ENST00000465995) - c.364A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs765669645 | 122 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000011.10:g.31430316G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430316G>A Locations: - p.Ser122Asn (Ensembl:ENST00000465995) - c.365G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1253574711 | 125 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.212) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000011.10:g.31430324A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430324A>C Locations: - p.Lys125Gln (Ensembl:ENST00000465995) - c.373A>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs777399768 | 126 | D>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.31430328A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430328A>C Locations: - p.Asp126Ala (Ensembl:ENST00000465995) - c.377A>C (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs777399768 | 126 | D>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.097) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31430328A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430328A>G Locations: - p.Asp126Gly (Ensembl:ENST00000465995) - c.377A>G (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs777399768 | 126 | D>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.31430328A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430328A>T Locations: - p.Asp126Val (Ensembl:ENST00000465995) - c.377A>T (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs1388990564 | 127 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.139) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000011.10:g.31430332A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430332A>C Locations: - p.Glu127Asp (Ensembl:ENST00000465995) - c.381A>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs758763909 | 127 | E>G | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.557) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31430331A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430331A>G Locations: - p.Glu127Gly (Ensembl:ENST00000465995) - c.380A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
COSV99541242 rs181756989 | 128 | A>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: tolerated (0.08) - PolyPhen: benign (0.113) - SIFT: tolerated (0.39) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000011.10:g.31430334C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430334C>A Locations: - p.A128E (NCI-TCGA:ENST00000465995) - p.Ala128Glu (Ensembl:ENST00000465995) - c.383C>A (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs181756989 | 128 | A>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000011.10:g.31430334C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430334C>T Locations: - p.Ala128Val (Ensembl:ENST00000465995) - c.383C>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1476188970 | 129 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000011.10:g.31430336G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430336G>A Locations: - p.Glu129Lys (Ensembl:ENST00000465995) - c.385G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1475898780 | 131 | V>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.677) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.31430342G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430342G>T Locations: - p.Val131Phe (Ensembl:ENST00000465995) - c.391G>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1475898780 | 131 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.184) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000011.10:g.31430342G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430342G>A Locations: - p.Val131Ile (Ensembl:ENST00000465995) - c.391G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs375231361 | 132 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000011.10:g.31430345A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430345A>C Locations: - p.Ser132Arg (Ensembl:ENST00000465995) - c.394A>C (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs748171465 | 138 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31430363A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430363A>G Locations: - p.Thr138Ala (Ensembl:ENST00000465995) - c.412A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs748171465 | 138 | T>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.554) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31430363A>C Codon: ACA/CCA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430363A>C Locations: - p.Thr138Pro (Ensembl:ENST00000465995) - c.412A>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs372074070 | 140 | S>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.821) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31430370C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430370C>T Locations: - p.Ser140Leu (Ensembl:ENST00000465995) - c.419C>T (Ensembl:ENST00000465995) Source type: large scale study | |||||||
rs1952908755 | 141 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.656) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31430372C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430372C>G Locations: - p.Leu141Val (Ensembl:ENST00000465995) - c.421C>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs576552524 | 143 | I>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31430379T>A Codon: ATA/AAA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430379T>A Locations: - p.Ile143Lys (Ensembl:ENST00000465995) - c.428T>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs576552524 | 143 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.158) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31430379T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430379T>C Locations: - p.Ile143Thr (Ensembl:ENST00000465995) - c.428T>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1366897406 | 144 | E>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.31430381G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430381G>T Locations: - p.Glu144Ter (Ensembl:ENST00000465995) - c.430G>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1366897406 | 144 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.31430381G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430381G>A Locations: - p.Glu144Lys (Ensembl:ENST00000465995) - c.430G>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs745700489 | 145 | L>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.31430384C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430384C>A Locations: - p.Leu145Ile (Ensembl:ENST00000465995) - c.433C>A (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs775110423 | 146 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.795) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.31430387C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430387C>T Locations: - p.Leu146Phe (Ensembl:ENST00000465995) - c.436C>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1952909151 | 148 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.119) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.31430394A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430394A>G Locations: - p.Tyr148Cys (Ensembl:ENST00000465995) - c.443A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs199634688 | 148 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000011.10:g.31430393T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430393T>C Locations: - p.Tyr148His (Ensembl:ENST00000465995) - c.442T>C (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1334153229 | 149 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.44) Somatic: No Accession: NC_000011.10:g.31430396A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430396A>G Locations: - p.Asn149Asp (Ensembl:ENST00000465995) - c.445A>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1211886424 | 149 | N>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000011.10:g.31430397A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430397A>T Locations: - p.Asn149Ile (Ensembl:ENST00000465995) - c.446A>T (Ensembl:ENST00000465995) Source type: large scale study Cross-references: | |||||||
rs1202897621 | 149 | N>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000011.10:g.31430398C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 11p13 Genomic location: NC_000011.10:g.31430398C>G Locations: - p.Asn149Lys (Ensembl:ENST00000465995) - c.447C>G (Ensembl:ENST00000465995) Source type: large scale study Cross-references: |