Q6IAA8 · LTOR1_HUMAN
- ProteinRagulator complex protein LAMTOR1
- GeneLAMTOR1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids161 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
TCGA novel | 2 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72103220C>T Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72103220C>T Locations: - c.5G>A (NCI-TCGA:ENST00000278671) - p.G2E (NCI-TCGA:ENST00000278671) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1945517477 | 4 | C>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.72103213G>T Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72103213G>T Locations: - p.Cys4Ter (Ensembl:ENST00000278671) - c.12C>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1418460530 | 4 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72103214C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72103214C>T Locations: - p.Cys4Tyr (Ensembl:ENST00000278671) - c.11G>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs747541875 | 7 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000011.10:g.72103206T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72103206T>C Locations: - p.Ser7Gly (Ensembl:ENST00000278671) - c.19A>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
COSV53826104 rs778384471 | 8 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) - PolyPhen: benign (0) - SIFT: tolerated (0.38) Somatic: Yes Accession: NC_000011.10:g.72103201C>G, NC_000011.10:g.72103201C>A Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72103201C>G, NC_000011.10:g.72103201C>A Locations: - c.24G>C (NCI-TCGA:ENST00000278671) - p.E8D (NCI-TCGA:ENST00000278671) - p.Glu8Asp (Ensembl:ENST00000278671) - c.24G>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1396553544 | 9 | N>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000011.10:g.72103198G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72103198G>C Locations: - p.Asn9Lys (Ensembl:ENST00000278671) - c.27C>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1171444457 | 10 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.72103197C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72103197C>T Locations: - p.Glu10Lys (Ensembl:ENST00000278671) - c.28G>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1426610613 | 12 | S>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000011.10:g.72103190G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72103190G>A Locations: - p.Ser12Leu (Ensembl:ENST00000278671) - c.35C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs752769625 | 13 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000011.10:g.72103186G>C Codon: GAC/GAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72103186G>C Locations: - p.Asp13Glu (Ensembl:ENST00000278671) - c.39C>G (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs1472142167 | 13 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.72103188C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72103188C>T Locations: - p.Asp13Asn (Ensembl:ENST00000278671) - c.37G>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1030033243 | 14 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.72103185G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72103185G>A Locations: - p.Gln14Ter (Ensembl:ENST00000278671) - c.40C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1485220453 | 15 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000011.10:g.72099256C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099256C>T Locations: - p.Asp15Asn (Ensembl:ENST00000278671) - c.43G>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs747421120 | 16 | R>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.72099253G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099253G>A Locations: - p.Arg16Ter (Ensembl:ENST00000278671) - c.46C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs778179316 | 16 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000011.10:g.72099252C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099252C>T Locations: - p.Arg16Gln (Ensembl:ENST00000278671) - c.47G>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
TCGA novel | 17 | E>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.72099249T>C Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099249T>C Locations: - c.50A>G (NCI-TCGA:ENST00000278671) - p.E17G (NCI-TCGA:ENST00000278671) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs139698091 | 19 | R>Q | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.72099243C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099243C>T Locations: - p.Arg19Gln (Ensembl:ENST00000278671) - c.56G>A (Ensembl:ENST00000278671) Source type: large scale study | |||||||
COSV53826789 rs1470988828 | 19 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: tolerated (0.2) - PolyPhen: benign (0.047) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000011.10:g.72099244G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099244G>A Locations: - p.R19W (NCI-TCGA:ENST00000278671) - p.Arg19Trp (Ensembl:ENST00000278671) - c.55C>T (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs1591176782 | 24 | D>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000011.10:g.72099228T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099228T>G Locations: - p.Asp24Ala (Ensembl:ENST00000278671) - c.71A>C (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1591176782 | 24 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000011.10:g.72099228T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099228T>C Locations: - p.Asp24Gly (Ensembl:ENST00000278671) - c.71A>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945348668 | 25 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72099225G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099225G>C Locations: - p.Pro25Arg (Ensembl:ENST00000278671) - c.74C>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs151193517 | 25 | P>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.72099226G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099226G>A Locations: - p.Pro25Ser (Ensembl:ENST00000278671) - c.73C>T (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs1372531306 | 26 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000011.10:g.72099222C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099222C>T Locations: - p.Ser26Asn (Ensembl:ENST00000278671) - c.77G>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1217041295 | 27 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.72099220T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099220T>C Locations: - p.Ser27Gly (Ensembl:ENST00000278671) - c.79A>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945348097 | 28 | P>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.276) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.72099216G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099216G>T Locations: - p.Pro28His (Ensembl:ENST00000278671) - c.83C>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1451385187 | 28 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.72099217G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099217G>A Locations: - p.Pro28Ser (Ensembl:ENST00000278671) - c.82C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs142245358 | 29 | P>A | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000011.10:g.72099214G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099214G>C Locations: - p.Pro29Ala (Ensembl:ENST00000278671) - c.85C>G (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs142245358 | 29 | P>T | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000011.10:g.72099214G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099214G>T Locations: - p.Pro29Thr (Ensembl:ENST00000278671) - c.85C>A (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs1591176736 | 30 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.72099211T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099211T>G Locations: - p.Thr30Pro (Ensembl:ENST00000278671) - c.88A>C (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
TCGA novel | 30 | T>Y | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000011.10:g.72099212_72099213insG Consequence type: frameshift Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099212_72099213insG Locations: - c.86dup (NCI-TCGA:ENST00000278671) - p.T30Yfs*20 (NCI-TCGA:ENST00000278671) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1315153304 | 32 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000011.10:g.72099205C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099205C>T Locations: - p.Ala32Thr (Ensembl:ENST00000278671) - c.94G>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1226934880 | 32 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000011.10:g.72099204G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099204G>A Locations: - p.Ala32Val (Ensembl:ENST00000278671) - c.95C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
TCGA novel | 33 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000011.10:g.72099201A>G Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099201A>G Locations: - c.98T>C (NCI-TCGA:ENST00000278671) - p.L33P (NCI-TCGA:ENST00000278671) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs758275911 | 33 | L>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000011.10:g.72099202G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099202G>C Locations: - p.Leu33Val (Ensembl:ENST00000278671) - c.97C>G (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs953585735 | 34 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.72099198T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099198T>C Locations: - p.Asn34Ser (Ensembl:ENST00000278671) - c.101A>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1431265156 | 36 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000011.10:g.72099193C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099193C>A Locations: - p.Ala36Ser (Ensembl:ENST00000278671) - c.106G>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
COSV99194367 rs144101476 | 37 | E>K | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000011.10:g.72099190C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099190C>T Locations: - p.Glu37Lys (Ensembl:ENST00000278671) - c.109G>A (Ensembl:ENST00000278671) Source type: large scale study | |||||||
COSV53825240 rs201626525 | 39 | N>I | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.25) Somatic: Yes Accession: NC_000011.10:g.72099183T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099183T>A Locations: - p.Asn39Ile (Ensembl:ENST00000278671) - c.116A>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs201626525 | 39 | N>S | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000011.10:g.72099183T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099183T>C Locations: - p.Asn39Ser (Ensembl:ENST00000278671) - c.116A>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1380983335 | 39 | N>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.72099184T>A Codon: AAC/TAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099184T>A Locations: - p.Asn39Tyr (Ensembl:ENST00000278671) - c.115A>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs747033462 | 40 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.36) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000011.10:g.72099180T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099180T>C Locations: - p.Tyr40Cys (Ensembl:ENST00000278671) - c.119A>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs766185001 | 42 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.72099175T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099175T>C Locations: - p.Ser42Gly (Ensembl:ENST00000278671) - c.124A>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs760392879 | 43 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000011.10:g.72099172G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099172G>C Locations: - p.Leu43Val (Ensembl:ENST00000278671) - c.127C>G (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs773514977 | 44 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.72099168G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099168G>A Locations: - p.Pro44Leu (Ensembl:ENST00000278671) - c.131C>T (Ensembl:ENST00000278671) Source type: large scale study | |||||||
TCGA novel | 45 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.223) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.72099165G>C Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099165G>C Locations: - c.134C>G (NCI-TCGA:ENST00000278671) - p.S45C (NCI-TCGA:ENST00000278671) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs564426310 | 46 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.72) - PolyPhen: benign (0) - SIFT: tolerated (0.22) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000011.10:g.72099163C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099163C>T Locations: - p.A46T (NCI-TCGA:ENST00000278671) - p.Ala46Thr (Ensembl:ENST00000278671) - c.136G>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs774872628 | 47 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.215) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.72099160G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099160G>A Locations: - p.Arg47Cys (Ensembl:ENST00000278671) - c.139C>T (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs768750455 | 47 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) - PolyPhen: benign (0) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.000003984 (gnomAD) Accession: NC_000011.10:g.72099159C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099159C>T Locations: - p.R47H (NCI-TCGA:ENST00000278671) - p.Arg47His (Ensembl:ENST00000278671) - c.140G>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs768750455 | 47 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.72099159C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099159C>G Locations: - p.Arg47Pro (Ensembl:ENST00000278671) - c.140G>C (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs1225106521 | 49 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72099154C>A Codon: GAT/TAT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099154C>A Locations: - p.Asp49Tyr (Ensembl:ENST00000278671) - c.145G>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
TCGA novel | 50 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72099151C>T Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099151C>T Locations: - c.148G>A (NCI-TCGA:ENST00000278671) - p.E50K (NCI-TCGA:ENST00000278671) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1490656675 | 52 | A>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.894) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.72099144G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099144G>T Locations: - p.Ala52Asp (Ensembl:ENST00000278671) - c.155C>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1490656675 | 52 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.231) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72099144G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099144G>C Locations: - p.Ala52Gly (Ensembl:ENST00000278671) - c.155C>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1014236431 | 52 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000011.10:g.72099145C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099145C>A Locations: - p.Ala52Ser (Ensembl:ENST00000278671) - c.154G>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1591176573 | 54 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72099139G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099139G>A Locations: - p.Leu54Phe (Ensembl:ENST00000278671) - c.160C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1393512692 | 56 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.727) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.72099132G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099132G>C Locations: - p.Ser56Cys (Ensembl:ENST00000278671) - c.167C>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs780083209 | 61 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.31) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.72099118T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72099118T>C Locations: - p.Thr61Ala (Ensembl:ENST00000278671) - c.181A>G (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs913019776 | 64 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.72098856T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098856T>C Locations: - p.Asn64Ser (Ensembl:ENST00000278671) - c.191A>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1178822050 | 65 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.677) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098852G>C Codon: TCA/TGA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098852G>C Locations: - p.Ile65Met (Ensembl:ENST00000278671) - c.195C>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1470529384 | 66 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098849A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098849A>C Locations: - p.Ile66Met (Ensembl:ENST00000278671) - c.198T>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs76839502 | 66 | I>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098850A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098850A>C Locations: - p.Ile66Ser (Ensembl:ENST00000278671) - c.197T>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs373473115 | 68 | V>M | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.72098845C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098845C>T Locations: - p.Val68Met (Ensembl:ENST00000278671) - c.202G>A (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs1157336367 | 69 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.72098841G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098841G>C Locations: - p.Ser69Cys (Ensembl:ENST00000278671) - c.206C>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1421412498 | 70 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.932) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098838G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098838G>A Locations: - p.Ala70Val (Ensembl:ENST00000278671) - c.209C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1374700688 | 71 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.666) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.72098836C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098836C>G Locations: - p.Ala71Pro (Ensembl:ENST00000278671) - c.211G>C (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
COSV99194437 | 71 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (0.25) Somatic: Yes Accession: NC_000011.10:g.72098836C>T Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098836C>T Locations: - c.211G>A (NCI-TCGA:ENST00000278671) - p.A71T (NCI-TCGA:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1177349917 | 71 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000011.10:g.72098835G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098835G>A Locations: - p.Ala71Val (Ensembl:ENST00000278671) - c.212C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
VAR_030250 rs1053443 | 73 | S>L | UniProt Ensembl dbSNP | ||||
Consequence: missense Somatic: No Accession: NC_000011.10:g.72098829G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098829G>A Locations: - p.Ser73Leu (UniProt:Q6IAA8) Source type: mixed | |||||||
rs1240945414 | 74 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.72098827G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098827G>C Locations: - p.Gln74Glu (Ensembl:ENST00000278671) - c.220C>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs2135155769 | 74 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.72098826T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098826T>C Locations: - p.Gln74Arg (Ensembl:ENST00000278671) - c.221A>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1399254404 | 75 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000011.10:g.72098824C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098824C>T Locations: - p.Gly75Ser (Ensembl:ENST00000278671) - c.223G>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1323759439 | 76 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.72098820A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098820A>G Locations: - p.Met76Thr (Ensembl:ENST00000278671) - c.227T>C (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1410023307 | 76 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.72098821T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098821T>C Locations: - p.Met76Val (Ensembl:ENST00000278671) - c.226A>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945330928 | 79 | H>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.161) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098810A>T Codon: CAT/CAA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098810A>T Locations: - p.His79Gln (Ensembl:ENST00000278671) - c.237T>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1267268081 | 79 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.319) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.72098811T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098811T>C Locations: - p.His79Arg (Ensembl:ENST00000278671) - c.236A>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
COSV53826340 rs1945331119 | 79 | H>Y | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.72098812G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098812G>A Locations: - p.His79Tyr (Ensembl:ENST00000278671) - c.235C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1318727092 | 82 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.72098803T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098803T>C Locations: - p.Met82Val (Ensembl:ENST00000278671) - c.244A>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1307598395 | 84 | R>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098797G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098797G>A Locations: - p.Arg84Cys (Ensembl:ENST00000278671) - c.250C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
COSV53825572 rs370533903 | 84 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000006472 (gnomAD) Accession: NC_000011.10:g.72098796C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098796C>T Locations: - p.R84H (NCI-TCGA:ENST00000278671) - p.Arg84His (Ensembl:ENST00000278671) - c.251G>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1380633807 | 86 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.574) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098789C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098789C>A Locations: - p.Arg86Ser (Ensembl:ENST00000278671) - c.258G>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945330190 | 89 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098782T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098782T>A Locations: - p.Ser89Cys (Ensembl:ENST00000278671) - c.265A>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
COSV53825832 rs761347517 | 91 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.09) - PolyPhen: benign (0.018) - SIFT: deleterious (0.02) Somatic: Yes Population frequencies: - MAF: 0.00001231 (gnomAD) Accession: NC_000011.10:g.72098411G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098411G>A Locations: - p.R91C (NCI-TCGA:ENST00000278671) - p.Arg91Cys (Ensembl:ENST00000278671) - c.271C>T (Ensembl:ENST00000278671) Source type: large scale study | |||||||
COSV53826873 | 91 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000011.10:g.72098410C>T Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098410C>T Locations: - c.272G>A (NCI-TCGA:ENST00000278671) - p.R91H (NCI-TCGA:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1293852677 | 91 | R>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.72098410C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098410C>A Locations: - p.Arg91Leu (Ensembl:ENST00000278671) - c.272G>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs761347517 | 91 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098411G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098411G>T Locations: - p.Arg91Ser (Ensembl:ENST00000278671) - c.271C>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs527635037 | 94 | V>M | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000011.10:g.72098402C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098402C>T Locations: - p.Val94Met (Ensembl:ENST00000278671) - c.280G>A (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs764378403 | 96 | S>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.72098396T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098396T>C Locations: - p.Ser96Gly (Ensembl:ENST00000278671) - c.286A>G (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs763466960 | 96 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.72098395C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098395C>T Locations: - p.Ser96Asn (Ensembl:ENST00000278671) - c.287G>A (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs763466960 | 96 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000011.10:g.72098395C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098395C>G Locations: - p.Ser96Thr (Ensembl:ENST00000278671) - c.287G>C (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs1327199243 | 100 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.72098383G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098383G>A Locations: - p.Thr100Ile (Ensembl:ENST00000278671) - c.299C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs769897650 | 101 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000011.10:g.72098380T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098380T>C Locations: - p.His101Arg (Ensembl:ENST00000278671) - c.302A>G (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs991627360 | 101 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000011.10:g.72098381G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098381G>A Locations: - p.His101Tyr (Ensembl:ENST00000278671) - c.301C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945311555 | 102 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.72098377C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098377C>T Locations: - p.Trp102Ter (Ensembl:ENST00000278671) - c.305G>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945311353 | 104 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098370C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098370C>A Locations: - p.Lys104Asn (Ensembl:ENST00000278671) - c.312G>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs759702170 | 105 | L>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.72098369G>T Codon: CTG/ATG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098369G>T Locations: - p.Leu105Met (Ensembl:ENST00000278671) - c.313C>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1395174277 | 105 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000011.10:g.72098368A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098368A>G Locations: - p.Leu105Pro (Ensembl:ENST00000278671) - c.314T>C (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs759702170 | 105 | L>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000011.10:g.72098369G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098369G>C Locations: - p.Leu105Val (Ensembl:ENST00000278671) - c.313C>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1165613287 | 106 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000011.10:g.72098366G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098366G>A Locations: - p.Pro106Ser (Ensembl:ENST00000278671) - c.316C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs370829479 | 107 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000011.10:g.72098362G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098362G>A Locations: - p.Pro107Leu (Ensembl:ENST00000278671) - c.320C>T (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs1237755153 | 107 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000011.10:g.72098363G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098363G>A Locations: - p.Pro107Ser (Ensembl:ENST00000278671) - c.319C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs139488666 | 109 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.72098356G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098356G>A Locations: - p.Pro109Leu (Ensembl:ENST00000278671) - c.326C>T (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs1198495922 | 109 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098357G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098357G>A Locations: - p.Pro109Ser (Ensembl:ENST00000278671) - c.325C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945310164 | 110 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.304) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.72098354A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098354A>T Locations: - p.Ser110Thr (Ensembl:ENST00000278671) - c.328T>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945309918 | 111 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.72098350A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098350A>G Locations: - p.Leu111Pro (Ensembl:ENST00000278671) - c.332T>C (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945310059 | 111 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.656) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.72098351G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098351G>C Locations: - p.Leu111Val (Ensembl:ENST00000278671) - c.331C>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1475524239 | 113 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000011.10:g.72098344C>G Codon: AGC/ACC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098344C>G Locations: - p.Ser113Thr (Ensembl:ENST00000278671) - c.338G>C (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs910893370 | 115 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.72098338G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098338G>A Locations: - p.Pro115Leu (Ensembl:ENST00000278671) - c.344C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945309371 | 116 | H>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098336G>T Codon: CAC/AAC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098336G>T Locations: - p.His116Asn (Ensembl:ENST00000278671) - c.346C>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945309038 | 118 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098330C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098330C>T Locations: - p.Val118Met (Ensembl:ENST00000278671) - c.352G>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs374046091 | 120 | A>T | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.531) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098324C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098324C>T Locations: - p.Ala120Thr (Ensembl:ENST00000278671) - c.358G>A (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs749995269 | 123 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.8) Somatic: No Accession: NC_000011.10:g.72098314G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098314G>A Locations: - p.Pro123Leu (Ensembl:ENST00000278671) - c.368C>T (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs755970684 | 123 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000011.10:g.72098315G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098315G>A Locations: - p.Pro123Ser (Ensembl:ENST00000278671) - c.367C>T (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs755970684 | 123 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.335) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000011.10:g.72098315G>T Codon: CCC/ACC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098315G>T Locations: - p.Pro123Thr (Ensembl:ENST00000278671) - c.367C>A (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs756998202 | 124 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.72098311A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098311A>G Locations: - p.Ile124Thr (Ensembl:ENST00000278671) - c.371T>C (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
COSV106396171 rs146341570 | 125 | P>L | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.72098308G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098308G>A Locations: - p.Pro125Leu (Ensembl:ENST00000278671) - c.374C>T (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs146341570 | 125 | P>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098308G>C Codon: CCG/CGG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098308G>C Locations: - p.Pro125Arg (Ensembl:ENST00000278671) - c.374C>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs763267480 | 126 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000011.10:g.72098306A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098306A>G Locations: - p.Phe126Leu (Ensembl:ENST00000278671) - c.376T>C (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
COSV99194469 | 126 | F>S | 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_000011.10:g.72098305A>G Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098305A>G Locations: - c.377T>C (NCI-TCGA:ENST00000278671) - p.F126S (NCI-TCGA:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945307776 | 127 | S>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000011.10:g.72098303A>C Codon: TCT/GCT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098303A>C Locations: - p.Ser127Ala (Ensembl:ENST00000278671) - c.379T>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1379295865 | 127 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.248) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098302G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098302G>A Locations: - p.Ser127Phe (Ensembl:ENST00000278671) - c.380C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945307350 | 128 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.925) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72098298A>C Codon: GAT/GAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098298A>C Locations: - p.Asp128Glu (Ensembl:ENST00000278671) - c.384T>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
COSV99194376 | 128 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.797) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000011.10:g.72098300C>T Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098300C>T Locations: - c.382G>A (NCI-TCGA:ENST00000278671) - p.D128N (NCI-TCGA:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1416008079 | 129 | L>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.839) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.72098297A>T Codon: TTG/ATG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098297A>T Locations: - p.Leu129Met (Ensembl:ENST00000278671) - c.385T>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs765822026 | 130 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.304) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.72098293T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098293T>C Locations: - p.Gln130Arg (Ensembl:ENST00000278671) - c.389A>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1392613376 | 131 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.72098291G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72098291G>A Locations: - p.Gln131Ter (Ensembl:ENST00000278671) - c.391C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs184909354 | 132 | V>A | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.72097913A>G Codon: TCT/CCT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097913A>G Locations: - p.Val132Ala (Ensembl:ENST00000278671) - c.395T>C (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs765114327 | 138 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.644) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000011.10:g.72097895T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097895T>C Locations: - p.Tyr138Cys (Ensembl:ENST00000278671) - c.413A>G (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs765114327 | 138 | Y>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000011.10:g.72097895T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097895T>A Locations: - p.Tyr138Phe (Ensembl:ENST00000278671) - c.413A>T (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs774389872 | 138 | Y>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000011.10:g.72097896A>T Codon: TAT/AAT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097896A>T Locations: - p.Tyr138Asn (Ensembl:ENST00000278671) - c.412T>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945284864 | 140 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.528) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000011.10:g.72097889T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097889T>C Locations: - p.Tyr140Cys (Ensembl:ENST00000278671) - c.419A>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945284864 | 140 | Y>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.59) Somatic: No Accession: NC_000011.10:g.72097889T>A Codon: TAC/TTC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097889T>A Locations: - p.Tyr140Phe (Ensembl:ENST00000278671) - c.419A>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs532540825 | 141 | S>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000011.10:g.72097887T>G Codon: AGT/CGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097887T>G Locations: - p.Ser141Arg (Ensembl:ENST00000278671) - c.421A>C (Ensembl:ENST00000278671) Source type: large scale study | |||||||
rs1945284539 | 143 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000011.10:g.72097881G>C Codon: CTT/GTT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097881G>C Locations: - p.Leu143Val (Ensembl:ENST00000278671) - c.427C>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945284437 | 144 | S>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000011.10:g.72097877G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097877G>A Locations: - p.Ser144Phe (Ensembl:ENST00000278671) - c.431C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1267444953 | 147 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.623) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.72097869G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097869G>A Locations: - p.Arg147Cys (Ensembl:ENST00000278671) - c.439C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1267444953 | 147 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72097869G>C Codon: CGT/GGT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097869G>C Locations: - p.Arg147Gly (Ensembl:ENST00000278671) - c.439C>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945284091 | 147 | R>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000011.10:g.72097868C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097868C>T Locations: - p.Arg147His (Ensembl:ENST00000278671) - c.440G>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
COSV99194388 | 149 | D>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.649) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000011.10:g.72097862T>A Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097862T>A Locations: - c.446A>T (NCI-TCGA:ENST00000278671) - p.D149V (NCI-TCGA:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs746945929 | 150 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000011.10:g.72097860C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097860C>T Locations: - p.Ala150Thr (Ensembl:ENST00000278671) - c.448G>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs772715183 | 150 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000011.10:g.72097859G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097859G>A Locations: - p.Ala150Val (Ensembl:ENST00000278671) - c.449C>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945283620 | 151 | K>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.275) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.72097857T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097857T>G Locations: - p.Lys151Gln (Ensembl:ENST00000278671) - c.451A>C (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
TCGA novel | 152 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000011.10:g.72097854C>A Consequence type: stop gained Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097854C>A Locations: - c.454G>T (NCI-TCGA:ENST00000278671) - p.E152* (NCI-TCGA:ENST00000278671) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1945283447 | 153 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.477) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72097851C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097851C>T Locations: - p.Glu153Lys (Ensembl:ENST00000278671) - c.457G>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945283352 | 154 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72097848G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097848G>C Locations: - p.Leu154Val (Ensembl:ENST00000278671) - c.460C>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945283244 | 155 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72097845C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097845C>T Locations: - p.Val155Ile (Ensembl:ENST00000278671) - c.463G>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs528765232 | 156 | V>I | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72097842C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097842C>T Locations: - p.Val156Ile (Ensembl:ENST00000278671) - c.466G>A (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs528765232 | 156 | V>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.86) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000011.10:g.72097842C>A Codon: GTA/TTA Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097842C>A Locations: - p.Val156Leu (Ensembl:ENST00000278671) - c.466G>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1945283017 | 158 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.498) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000011.10:g.72097834A>C Codon: TTT/TTG Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097834A>C Locations: - p.Phe158Leu (Ensembl:ENST00000278671) - c.474T>G (Ensembl:ENST00000278671) Source type: large scale study Cross-references: | |||||||
rs1305468469 | 160 | I>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.254) - SIFT: deleterious (0) Somatic: No Accession: NC_000011.10:g.72097830T>A Codon: ATC/TTC Consequence type: missense Cytogenetic band: 11q13.4 Genomic location: NC_000011.10:g.72097830T>A Locations: - p.Ile160Phe (Ensembl:ENST00000278671) - c.478A>T (Ensembl:ENST00000278671) Source type: large scale study Cross-references: |