O60291 · MGRN1_HUMAN
- ProteinE3 ubiquitin-protein ligase MGRN1
- GeneMGRN1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids552 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1456029498 | 3 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.844) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4624968C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4624968C>G Locations: - p.Ser3Cys (Ensembl:ENST00000399577) - c.8C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1408772570 | 3 | S>P | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.644) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4624967T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4624967T>C Locations: - p.Ser3Pro (Ensembl:ENST00000399577) - c.7T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1408772570 | 3 | S>T | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.214) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4624967T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4624967T>A Locations: - p.Ser3Thr (Ensembl:ENST00000399577) - c.7T>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs778474715 | 4 | I>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.63) Somatic: No Accession: NC_000016.10:g.4624970A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4624970A>C Locations: - p.Ile4Leu (Ensembl:ENST00000399577) - c.10A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1489828760 | 5 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.403) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4624973C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4624973C>T Locations: - p.Leu5Phe (Ensembl:ENST00000399577) - c.13C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1195566453 | 5 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.59) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4624974T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4624974T>G Locations: - p.Leu5Arg (Ensembl:ENST00000399577) - c.14T>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52148435 | 8 | R>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4624982C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4624982C>T Locations: - p.Arg8Cys (cosmic curated:ENST00000399577) - c.22C>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs757797825 | 8 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.873) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4624983G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4624983G>A Locations: - p.Arg8His (Ensembl:ENST00000399577) - c.23G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs779595976 | 9 | I>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4624985A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4624985A>C Locations: - p.Ile9Leu (Ensembl:ENST00000399577) - c.25A>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52149572 COSV99273956 | 9 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.26) Somatic: Yes Accession: NC_000016.10:g.4624987C>G Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4624987C>G Locations: - p.I9M (NCI-TCGA:ENST00000399577) - p.Ile9Met (cosmic curated:ENST00000399577) - c.27C>G (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs779595976 | 9 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4624985A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4624985A>G Locations: - p.Ile9Val (Ensembl:ENST00000399577) - c.25A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52150862 rs1897591205 | 10 | A>V | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.706) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4624989C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4624989C>T Locations: - p.Ala10Val (Ensembl:ENST00000399577) - c.29C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1897591490 | 11 | G>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4624992G>C Codon: GGG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4624992G>C Locations: - p.Gly11Ala (Ensembl:ENST00000399577) - c.32G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs868392053 | 11 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4624991G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4624991G>A Locations: - p.Gly11Arg (Ensembl:ENST00000399577) - c.31G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1596245713 | 12 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.71) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4624995T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4624995T>G Locations: - p.Val12Gly (Ensembl:ENST00000399577) - c.35T>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1283916678 | 12 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4624994G>C, NC_000016.10:g.4624994G>T Codon: GTG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4624994G>C, NC_000016.10:g.4624994G>T Locations: - p.Val12Leu (Ensembl:ENST00000399577) - c.34G>C (Ensembl:ENST00000399577) - c.34G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52149683 rs1283916678 | 12 | V>M | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.176) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4624994G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4624994G>A Locations: - p.Val12Met (Ensembl:ENST00000399577) - c.34G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs781189317 | 15 | I>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4625003A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625003A>C Locations: - p.Ile15Leu (Ensembl:ENST00000399577) - c.43A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs747892957 | 15 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.423) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4625005C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625005C>G Locations: - p.Ile15Met (Ensembl:ENST00000399577) - c.45C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
TCGA novel | 16 | D>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.257) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000016.10:g.4625008C>G Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625008C>G Locations: - c.48C>G (NCI-TCGA:ENST00000399577) - p.D16E (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs770144577 | 16 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4625006G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625006G>C Locations: - p.Asp16His (Ensembl:ENST00000399577) - c.46G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274141 rs1388180670 | 18 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.577) - SIFT: tolerated (0.06) - PolyPhen: possibly damaging (0.587) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4625014G>T, NC_000016.10:g.4625014G>C Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625014G>T, NC_000016.10:g.4625014G>C Locations: - p.Q18H (NCI-TCGA:ENST00000399577) - p.Gln18His (cosmic curated:ENST00000399577) - c.54G>T (cosmic curated:ENST00000399577) - p.Gln18His (Ensembl:ENST00000399577) - c.54G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1245059072 | 18 | Q>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.486) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.4625013A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625013A>C Locations: - p.Gln18Pro (Ensembl:ENST00000399577) - c.53A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52152096 | 19 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4625015G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4625015G>A Locations: - p.Ala19Thr (cosmic curated:ENST00000399577) - c.55G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs763144189 | 19 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.521) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4625016C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625016C>T Locations: - p.Ala19Val (Ensembl:ENST00000399577) - c.56C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs373216269 | 21 | S>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4625022C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625022C>T Locations: - p.Ser21Leu (Ensembl:ENST00000399577) - c.62C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs373216269 | 21 | S>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4625022C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625022C>G Locations: - p.Ser21Trp (Ensembl:ENST00000399577) - c.62C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1163670504 | 22 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.342) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4625024G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625024G>T Locations: - p.Ala22Ser (Ensembl:ENST00000399577) - c.64G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52153052 rs1014479330 | 22 | A>V | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: deleterious - low confidence (0.05) Somatic: Yes Accession: NC_000016.10:g.4625025C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625025C>T Locations: - p.Ala22Val (Ensembl:ENST00000399577) - c.65C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1471877145 | 23 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.72) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4625028A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625028A>G Locations: - p.Tyr23Cys (Ensembl:ENST00000399577) - c.68A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV104575621 | 23 | Y>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4625027T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4625027T>G Locations: - p.Tyr23Asp (cosmic curated:ENST00000399577) - c.67T>G (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1389726955 | 24 | R>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.796) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4625030C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625030C>T Locations: - p.Arg24Cys (Ensembl:ENST00000399577) - c.70C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1389726955 | 24 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4625030C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625030C>G Locations: - p.Arg24Gly (Ensembl:ENST00000399577) - c.70C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs768014980 | 24 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.566) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4625031G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625031G>C Locations: - p.Arg24Pro (Ensembl:ENST00000399577) - c.71G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1400940716 | 25 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.844) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4625034A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625034A>G Locations: - p.Tyr25Cys (Ensembl:ENST00000399577) - c.74A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1319820954 | 26 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.47) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4625036C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625036C>G Locations: - p.Pro26Ala (Ensembl:ENST00000399577) - c.76C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52153396 | 27 | P>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4625040C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4625040C>A Locations: - p.Pro27Gln (cosmic curated:ENST00000399577) - c.80C>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs753068958 | 27 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4625040C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625040C>G Locations: - p.Pro27Arg (Ensembl:ENST00000399577) - c.80C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1403876318 | 27 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.122) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4625039C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625039C>T Locations: - p.Pro27Ser (Ensembl:ENST00000399577) - c.79C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs907580190 | 28 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.489) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4625044G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625044G>C Locations: - p.Lys28Asn (Ensembl:ENST00000399577) - c.84G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1022807838 | 28 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.403) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4625042A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4625042A>C Locations: - p.Lys28Gln (Ensembl:ENST00000399577) - c.82A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs374381733 | 31 | N>D | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650367A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650367A>G Locations: - p.Asn31Asp (Ensembl:ENST00000399577) - c.91A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs879041683 | 32 | Y>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.4650372C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650372C>A Locations: - p.Tyr32Ter (Ensembl:ENST00000399577) - c.96C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52153832 | 34 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4650377C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4650377C>T Locations: - p.Ala34Val (cosmic curated:ENST00000399577) - c.101C>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV104575566 rs751035093 | 35 | S>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.318) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4650380C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650380C>T Locations: - p.Ser35Leu (Ensembl:ENST00000399577) - c.104C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
TCGA novel | 36 | H>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4650384C>G Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650384C>G Locations: - c.108C>G (NCI-TCGA:ENST00000399577) - p.H36Q (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2078378728 | 36 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650383A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650383A>G Locations: - p.His36Arg (Ensembl:ENST00000399577) - c.107A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs754470681 | 36 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650382C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650382C>T Locations: - p.His36Tyr (Ensembl:ENST00000399577) - c.106C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs767580795 | 37 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650385T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650385T>C Locations: - p.Phe37Leu (Ensembl:ENST00000399577) - c.109T>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs756084789 | 38 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650390C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650390C>A Locations: - p.Phe38Leu (Ensembl:ENST00000399577) - c.114C>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs377466880 | 39 | M>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650393G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650393G>A Locations: - p.Met39Ile (Ensembl:ENST00000399577) - c.117G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV99274761 | 39 | M>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.904) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000016.10:g.4650391A>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650391A>T Locations: - p.M39L (NCI-TCGA:ENST00000399577) - p.Met39Leu (cosmic curated:ENST00000399577) - c.115A>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs777771994 | 39 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650391A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650391A>G Locations: - p.Met39Val (Ensembl:ENST00000399577) - c.115A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs757429171 | 40 | G>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650395G>C Codon: GGA/GCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650395G>C Locations: - p.Gly40Ala (Ensembl:ENST00000399577) - c.119G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274622 | 41 | G>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4650397G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4650397G>T Locations: - p.Gly41Ter (cosmic curated:ENST00000399577) - c.121G>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
TCGA novel | 42 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4650402G>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650402G>T Locations: - c.126G>T (NCI-TCGA:ENST00000399577) - p.E42D (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1185795986 | 42 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650400G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650400G>C Locations: - p.Glu42Gln (Ensembl:ENST00000399577) - c.124G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078379175 | 43 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650403A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650403A>G Locations: - p.Lys43Glu (Ensembl:ENST00000399577) - c.127A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274233 | 43 | K>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000016.10:g.4650403A>C Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650403A>C Locations: - p.K43Q (NCI-TCGA:ENST00000399577) - p.Lys43Gln (cosmic curated:ENST00000399577) - c.127A>C (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52149247 | 43 | K>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4650404A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4650404A>G Locations: - p.Lys43Arg (cosmic curated:ENST00000399577) - c.128A>G (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1257916696 | 44 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650408C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650408C>G Locations: - p.Phe44Leu (Ensembl:ENST00000399577) - c.132C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs779159728 | 46 | T>I | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650413C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650413C>T Locations: - p.Thr46Ile (Ensembl:ENST00000399577) - c.137C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52148537 | 46 | T>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000016.10:g.4650413C>A Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650413C>A Locations: - p.T46N (NCI-TCGA:ENST00000399577) - p.Thr46Asn (cosmic curated:ENST00000399577) - c.137C>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs779159728 | 46 | T>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4650413C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650413C>G Locations: - p.Thr46Ser (Ensembl:ENST00000399577) - c.137C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs371159103 | 47 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.671) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650416C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650416C>T Locations: - p.Pro47Leu (Ensembl:ENST00000399577) - c.140C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs769136725 | 48 | H>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650418C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650418C>G Locations: - p.His48Asp (Ensembl:ENST00000399577) - c.142C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs769136725 | 48 | H>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650418C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650418C>A Locations: - p.His48Asn (Ensembl:ENST00000399577) - c.142C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52148537 | 48 | H>T | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: frameshift Somatic: Yes Accession: NC_000016.10:g.4650413del Consequence type: frameshift Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650413del Locations: - c.142del (NCI-TCGA:ENST00000399577) - p.H48Tfs*13 (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs769136725 | 48 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650418C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650418C>T Locations: - p.His48Tyr (Ensembl:ENST00000399577) - c.142C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078379800 | 49 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650422C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650422C>T Locations: - p.Pro49Leu (Ensembl:ENST00000399577) - c.146C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV107273956 rs1338424029 | 50 | E>K | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4650424G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650424G>A Locations: - p.Glu50Lys (Ensembl:ENST00000399577) - c.148G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078379932 | 51 | G>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650428G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650428G>A Locations: - p.Gly51Asp (Ensembl:ENST00000399577) - c.152G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078379902 | 51 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650427G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650427G>A Locations: - p.Gly51Ser (Ensembl:ENST00000399577) - c.151G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078379932 | 51 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650428G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650428G>T Locations: - p.Gly51Val (Ensembl:ENST00000399577) - c.152G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV104575622 rs1567190973 | 54 | F>L | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4650438T>A, NC_000016.10:g.4650438T>G Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650438T>A, NC_000016.10:g.4650438T>G Locations: - p.Phe54Leu (cosmic curated:ENST00000399577) - c.162T>A (cosmic curated:ENST00000399577) - p.Phe54Leu (Ensembl:ENST00000399577) - c.162T>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV104575623 TCGA novel | 55 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000016.10:g.4650440G>A Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650440G>A Locations: - p.G55E (NCI-TCGA:ENST00000399577) - p.Gly55Glu (cosmic curated:ENST00000399577) - c.164G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1482505542 | 56 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650444G>T, NC_000016.10:g.4650444G>C Codon: GAG/GAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650444G>T, NC_000016.10:g.4650444G>C Locations: - p.Glu56Asp (Ensembl:ENST00000399577) - c.168G>T (Ensembl:ENST00000399577) - c.168G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078380180 | 57 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650447C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650447C>G Locations: - p.Asn57Lys (Ensembl:ENST00000399577) - c.171C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1487997486 | 57 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.712) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650446A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650446A>G Locations: - p.Asn57Ser (Ensembl:ENST00000399577) - c.170A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078380241 | 58 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.355) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650450G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650450G>A Locations: - p.Met58Ile (Ensembl:ENST00000399577) - c.174G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1567190998 | 58 | M>V | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.207) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650448A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650448A>G Locations: - p.Met58Val (Ensembl:ENST00000399577) - c.172A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52155137 | 60 | L>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4650455T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4650455T>G Locations: - p.Leu60Arg (cosmic curated:ENST00000399577) - c.179T>G (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1296428286 | 60 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.892) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650454C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650454C>G Locations: - p.Leu60Val (Ensembl:ENST00000399577) - c.178C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078380329 | 61 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.297) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650458A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650458A>G Locations: - p.Asn61Ser (Ensembl:ENST00000399577) - c.182A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs200491862 | 62 | F>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650462C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650462C>G Locations: - p.Phe62Leu (Ensembl:ENST00000399577) - c.186C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs2078380398 | 62 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650460T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650460T>C Locations: - p.Phe62Leu (Ensembl:ENST00000399577) - c.184T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52151601 | 64 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000016.10:g.4650467G>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650467G>T Locations: - p.G64V (NCI-TCGA:ENST00000399577) - p.Gly64Val (cosmic curated:ENST00000399577) - c.191G>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1305660647 | 65 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650469A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650469A>G Locations: - p.Ser65Gly (Ensembl:ENST00000399577) - c.193A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs752247842 | 66 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650472C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650472C>T Locations: - p.Arg66Cys (Ensembl:ENST00000399577) - c.196C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs752247842 | 66 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650472C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650472C>G Locations: - p.Arg66Gly (Ensembl:ENST00000399577) - c.196C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs374852484 | 66 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001208 (gnomAD) Accession: NC_000016.10:g.4650473G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650473G>A Locations: - p.R66H (NCI-TCGA:ENST00000399577) - p.Arg66His (Ensembl:ENST00000399577) - c.197G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52149608 rs764059983 | 67 | P>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4650476C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650476C>T Locations: - p.Pro67Leu (Ensembl:ENST00000399577) - c.200C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV107273853 | 67 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4650475C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4650475C>T Locations: - p.Pro67Ser (cosmic curated:ENST00000399577) - c.199C>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs778550958 | 68 | V>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.813) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650478G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650478G>T Locations: - p.Val68Phe (Ensembl:ENST00000399577) - c.202G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs778550958 | 68 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.255) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650478G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650478G>C Locations: - p.Val68Leu (Ensembl:ENST00000399577) - c.202G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs866689226 | 69 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.503) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4650482A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4650482A>G Locations: - p.Gln69Arg (Ensembl:ENST00000399577) - c.206A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1421976961 | 70 | F>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4651963T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651963T>A Locations: - p.Phe70Ile (Ensembl:ENST00000399577) - c.208T>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs749601050 | 70 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4651965T>G, NC_000016.10:g.4651965T>A Codon: TTT/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651965T>G, NC_000016.10:g.4651965T>A Locations: - p.Phe70Leu (Ensembl:ENST00000399577) - c.210T>G (Ensembl:ENST00000399577) - c.210T>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1243273088 | 71 | P>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4651967C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651967C>A Locations: - p.Pro71His (Ensembl:ENST00000399577) - c.212C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274722 rs1243273088 | 71 | P>L | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4651967C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651967C>T Locations: - p.Pro71Leu (Ensembl:ENST00000399577) - c.212C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52150181 rs1014474091 | 71 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4651966C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651966C>T Locations: - p.P71S (NCI-TCGA:ENST00000399577) - p.Pro71Ser (Ensembl:ENST00000399577) - c.211C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs760385142 | 72 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4651970A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651970A>G Locations: - p.Tyr72Cys (Ensembl:ENST00000399577) - c.215A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs775237768 | 72 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4651969T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651969T>C Locations: - p.Tyr72His (Ensembl:ENST00000399577) - c.214T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274581 rs200497316 | 73 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated (0.14) - PolyPhen: benign (0.052) - SIFT: tolerated - low confidence (0.18) Somatic: Yes Accession: NC_000016.10:g.4651972G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651972G>A Locations: - p.V73I (NCI-TCGA:ENST00000399577) - p.Val73Ile (Ensembl:ENST00000399577) - c.217G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1596281613 | 74 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4651975A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651975A>G Locations: - p.Thr74Ala (Ensembl:ENST00000399577) - c.220A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1596281613 | 74 | T>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4651975A>C Codon: ACT/CCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651975A>C Locations: - p.Thr74Pro (Ensembl:ENST00000399577) - c.220A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs973171422 | 75 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4651979C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651979C>T Locations: - p.Pro75Leu (Ensembl:ENST00000399577) - c.224C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1156440156 | 77 | P>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4651985C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651985C>A Locations: - p.Pro77His (Ensembl:ENST00000399577) - c.230C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1156440156 | 77 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4651985C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651985C>G Locations: - p.Pro77Arg (Ensembl:ENST00000399577) - c.230C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs776001905 | 77 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.849) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4651984C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651984C>A Locations: - p.Pro77Thr (Ensembl:ENST00000399577) - c.229C>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs202163970 | 78 | H>D | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.764) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4651987C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651987C>G Locations: - p.His78Asp (Ensembl:ENST00000399577) - c.232C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs202163970 | 78 | H>N | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.59) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4651987C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651987C>A Locations: - p.His78Asn (Ensembl:ENST00000399577) - c.232C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs369377836 COSV52155037 | 78 | H>Q | 1000Genomes ESP ExAC TOPMed gnomAD cosmic curated | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.626) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Accession: NC_000016.10:g.4651989C>A, NC_000016.10:g.4651989C>G Codon: CAC/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651989C>A, NC_000016.10:g.4651989C>G Locations: - p.His78Gln (Ensembl:ENST00000399577) - c.234C>A (Ensembl:ENST00000399577) - p.His78Gln (cosmic curated:ENST00000399577) - c.234C>G (cosmic curated:ENST00000399577) Source type: large scale study | |||||||
rs1443040252 | 78 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4651988A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651988A>G Locations: - p.His78Arg (Ensembl:ENST00000399577) - c.233A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs550946037 | 79 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4651990G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651990G>A Locations: - p.Glu79Lys (Ensembl:ENST00000399577) - c.235G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs373631773 | 80 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4651994C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651994C>T Locations: - p.Pro80Leu (Ensembl:ENST00000399577) - c.239C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs373631773 | 80 | P>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4651994C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651994C>G Locations: - p.Pro80Arg (Ensembl:ENST00000399577) - c.239C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs751823824 | 81 | V>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4651996G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4651996G>A Locations: - p.Val81Met (Ensembl:ENST00000399577) - c.241G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52152712 rs755124130 | 83 | T>M | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4652003C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652003C>T Locations: - p.Thr83Met (Ensembl:ENST00000399577) - c.248C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1466044058 | 84 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652005C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652005C>G Locations: - p.Leu84Val (Ensembl:ENST00000399577) - c.250C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274663 rs1450030540 | 85 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000004009 (gnomAD) Accession: NC_000016.10:g.4652009G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652009G>A Locations: - p.R85Q (NCI-TCGA:ENST00000399577) - p.Arg85Gln (Ensembl:ENST00000399577) - c.254G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV99274456 rs756656065 | 85 | R>W | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4652008C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652008C>T Locations: - p.Arg85Trp (Ensembl:ENST00000399577) - c.253C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1270243761 | 88 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652017G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652017G>A Locations: - p.Val88Met (Ensembl:ENST00000399577) - c.262G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV105100553 | 89 | N>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4652021-4652022AC>TT Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4652021-4652022AC>TT Locations: - p.Asn89Ile (cosmic curated:ENST00000399577) - c.266_267delinsTT (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs757745993 | 90 | I>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652023A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652023A>T Locations: - p.Ile90Phe (Ensembl:ENST00000399577) - c.268A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs975521917 | 90 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652024T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652024T>C Locations: - p.Ile90Thr (Ensembl:ENST00000399577) - c.269T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs757745993 | 90 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4652023A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652023A>G Locations: - p.Ile90Val (Ensembl:ENST00000399577) - c.268A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs746728642 | 91 | R>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.929) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652026C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652026C>T Locations: - p.Arg91Cys (Ensembl:ENST00000399577) - c.271C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs746728642 | 91 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.699) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652026C>G Codon: CGC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652026C>G Locations: - p.Arg91Gly (Ensembl:ENST00000399577) - c.271C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV99274277 rs944959628 | 91 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: deleterious (0) - PolyPhen: benign (0.079) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001203 (gnomAD) Accession: NC_000016.10:g.4652027G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652027G>A Locations: - p.R91H (NCI-TCGA:ENST00000399577) - p.Arg91His (Ensembl:ENST00000399577) - c.272G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs944959628 | 91 | R>P | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.869) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652027G>C Codon: CGC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652027G>C Locations: - p.Arg91Pro (Ensembl:ENST00000399577) - c.272G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1473886878 | 94 | S>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652036C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652036C>A Locations: - p.Ser94Tyr (Ensembl:ENST00000399577) - c.281C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs201332574 | 95 | L>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4652038C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652038C>G Locations: - p.Leu95Val (Ensembl:ENST00000399577) - c.283C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs769798636 | 96 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652042G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652042G>A Locations: - p.Arg96Gln (Ensembl:ENST00000399577) - c.287G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs531069500 | 96 | R>W | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4652041C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652041C>T Locations: - p.Arg96Trp (Ensembl:ENST00000399577) - c.286C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52152668 rs762850617 | 98 | V>G | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4652048T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652048T>G Locations: - p.Val98Gly (Ensembl:ENST00000399577) - c.293T>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1404522434 | 98 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652047G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652047G>A Locations: - p.Val98Met (Ensembl:ENST00000399577) - c.292G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1337766185 | 99 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652050A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652050A>G Locations: - p.Arg99Gly (Ensembl:ENST00000399577) - c.295A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs768946056 | 101 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652682A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652682A>G Locations: - p.Lys101Glu (Ensembl:ENST00000399577) - c.301A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1332755943 | 102 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.899) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652685G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652685G>C Locations: - p.Asp102His (Ensembl:ENST00000399577) - c.304G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274821 | 102 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4652685G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4652685G>A Locations: - p.Asp102Asn (cosmic curated:ENST00000399577) - c.304G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs765865730 | 103 | D>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.306) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652689A>C Codon: GAT/GCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652689A>C Locations: - p.Asp103Ala (Ensembl:ENST00000399577) - c.308A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs776858596 | 103 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.59) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4652688G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652688G>A Locations: - p.Asp103Asn (Ensembl:ENST00000399577) - c.307G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs776858596 | 103 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652688G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652688G>T Locations: - p.Asp103Tyr (Ensembl:ENST00000399577) - c.307G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1401246921 | 104 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.6) Somatic: No Accession: NC_000016.10:g.4652691G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652691G>A Locations: - p.Ala104Thr (Ensembl:ENST00000399577) - c.310G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs201331866 | 105 | D>H | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652694G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652694G>C Locations: - p.Asp105His (Ensembl:ENST00000399577) - c.313G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs201331866 | 105 | D>N | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4652694G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652694G>A Locations: - p.Asp105Asn (Ensembl:ENST00000399577) - c.313G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs755777024 | 106 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652697A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652697A>G Locations: - p.Ser106Gly (Ensembl:ENST00000399577) - c.316A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs777339703 | 107 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4652700C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652700C>A Locations: - p.Pro107Thr (Ensembl:ENST00000399577) - c.319C>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52150214 rs756811535 | 109 | E>K | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.824) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4652706G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652706G>A Locations: - p.Glu109Lys (Ensembl:ENST00000399577) - c.325G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078435917 | 110 | D>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.813) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652709G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652709G>T Locations: - p.Asp110Tyr (Ensembl:ENST00000399577) - c.328G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV105100551 | 111 | G>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4652713G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4652713G>A Locations: - p.Gly111Asp (cosmic curated:ENST00000399577) - c.332G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs745861566 | 111 | G>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.39) Somatic: No Population frequencies: - MAF: 0 (1000Genomes) Accession: NC_000016.10:g.4652712G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652712G>A Locations: - p.Gly111Ser (Ensembl:ENST00000399577) - c.331G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1196444786 | 111 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.351) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652713G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652713G>T Locations: - p.Gly111Val (Ensembl:ENST00000399577) - c.332G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs888067073 | 112 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.4652716A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652716A>G Locations: - p.Asp112Gly (Ensembl:ENST00000399577) - c.335A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1382991351 | 112 | D>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4652715G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652715G>A Locations: - p.Asp112Asn (Ensembl:ENST00000399577) - c.334G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1423526553 | 113 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.273) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652718A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652718A>G Locations: - p.Lys113Glu (Ensembl:ENST00000399577) - c.337A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1423526553 | 113 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.779) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4652718A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652718A>C Locations: - p.Lys113Gln (Ensembl:ENST00000399577) - c.337A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99273619 | 113 | K>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4652719A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4652719A>G Locations: - p.Lys113Arg (cosmic curated:ENST00000399577) - c.338A>G (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52154631 rs2078436187 | 114 | P>L | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.626) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4652722C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652722C>T Locations: - p.Pro114Leu (Ensembl:ENST00000399577) - c.341C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs369428684 | 115 | R>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.247) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652725G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652725G>A Locations: - p.Arg115Gln (Ensembl:ENST00000399577) - c.344G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1392859102 | 115 | R>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.813) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652724C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652724C>T Locations: - p.Arg115Trp (Ensembl:ENST00000399577) - c.343C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1327970252 | 116 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.323) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4652727G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652727G>T Locations: - p.Val116Leu (Ensembl:ENST00000399577) - c.346G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs201676811 | 117 | L>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.449) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652730C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652730C>T Locations: - p.Leu117Phe (Ensembl:ENST00000399577) - c.349C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs201676811 | 117 | L>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4652730C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652730C>G Locations: - p.Leu117Val (Ensembl:ENST00000399577) - c.349C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs376313526 | 118 | Y>C | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652734A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652734A>G Locations: - p.Tyr118Cys (Ensembl:ENST00000399577) - c.353A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV99274223 | 118 | Y>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000016.10:g.4652733T>C Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652733T>C Locations: - p.Y118H (NCI-TCGA:ENST00000399577) - p.Tyr118His (cosmic curated:ENST00000399577) - c.352T>C (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs369600911 | 119 | S>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000016.10:g.4652736A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652736A>G Locations: - p.Ser119Gly (Ensembl:ENST00000399577) - c.355A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52150832 | 119 | S>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4652737G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4652737G>A Locations: - p.Ser119Asn (cosmic curated:ENST00000399577) - c.356G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1021045397 | 119 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652738C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652738C>A Locations: - p.Ser119Arg (Ensembl:ENST00000399577) - c.357C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99273776 | 121 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4652742G>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652742G>T Locations: - p.E121* (NCI-TCGA:ENST00000399577) - p.Glu121Ter (cosmic curated:ENST00000399577) - c.361G>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs770030855 | 121 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652743A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652743A>G Locations: - p.Glu121Gly (Ensembl:ENST00000399577) - c.362A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs773333527 | 122 | F>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652746T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652746T>G Locations: - p.Phe122Cys (Ensembl:ENST00000399577) - c.365T>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1326475143 | 122 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652747C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652747C>G Locations: - p.Phe122Leu (Ensembl:ENST00000399577) - c.366C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs773333527 | 122 | F>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652746T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652746T>A Locations: - p.Phe122Tyr (Ensembl:ENST00000399577) - c.365T>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs763427469 | 123 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.684) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652749C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652749C>T Locations: - p.Thr123Ile (Ensembl:ENST00000399577) - c.368C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs763427469 | 123 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.407) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652749C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652749C>G Locations: - p.Thr123Ser (Ensembl:ENST00000399577) - c.368C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs2078437030 | 125 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652755A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652755A>G Locations: - p.Asp125Gly (Ensembl:ENST00000399577) - c.374A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs759852368 | 125 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652754G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652754G>A Locations: - p.Asp125Asn (Ensembl:ENST00000399577) - c.373G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs756899428 | 126 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.517) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652758C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652758C>G Locations: - p.Ala126Gly (Ensembl:ENST00000399577) - c.377C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs376391281 | 126 | A>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.4652757G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652757G>T Locations: - p.Ala126Ser (Ensembl:ENST00000399577) - c.376G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52153482 rs376391281 | 126 | A>T | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Accession: NC_000016.10:g.4652757G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652757G>A Locations: - p.Ala126Thr (Ensembl:ENST00000399577) - c.376G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs4468625 | 127 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652762T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652762T>A Locations: - p.Asp127Glu (Ensembl:ENST00000399577) - c.381T>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52150720 rs749894917 | 127 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0000164 (gnomAD) Accession: NC_000016.10:g.4652760G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652760G>A Locations: - p.D127N (NCI-TCGA:ENST00000399577) - p.Asp127Asn (Ensembl:ENST00000399577) - c.379G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs201088254 | 129 | R>C | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652766C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652766C>T Locations: - p.Arg129Cys (Ensembl:ENST00000399577) - c.385C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52151113 rs780003440 | 129 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00003296 (gnomAD) Accession: NC_000016.10:g.4652767G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652767G>A Locations: - p.R129H (NCI-TCGA:ENST00000399577) - p.Arg129His (Ensembl:ENST00000399577) - c.386G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs780003440 | 129 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652767G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652767G>T Locations: - p.Arg129Leu (Ensembl:ENST00000399577) - c.386G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs781100866 | 130 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652769G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652769G>C Locations: - p.Val130Leu (Ensembl:ENST00000399577) - c.388G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV99274112 rs781100866 | 130 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001647 (gnomAD) Accession: NC_000016.10:g.4652769G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652769G>A Locations: - p.V130M (NCI-TCGA:ENST00000399577) - p.Val130Met (Ensembl:ENST00000399577) - c.388G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs868569680 | 131 | A>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652773C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652773C>A Locations: - p.Ala131Asp (Ensembl:ENST00000399577) - c.392C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1467047398 | 131 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652772G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652772G>A Locations: - p.Ala131Thr (Ensembl:ENST00000399577) - c.391G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52148021 rs868569680 | 131 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4652773C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652773C>T Locations: - p.A131V (NCI-TCGA:ENST00000399577) - p.Ala131Val (Ensembl:ENST00000399577) - c.392C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1334407954 | 132 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4652775A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652775A>G Locations: - p.Ile132Val (Ensembl:ENST00000399577) - c.394A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1200363314 | 133 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652778A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652778A>G Locations: - p.Thr133Ala (Ensembl:ENST00000399577) - c.397A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1321259062 | 133 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652779C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652779C>T Locations: - p.Thr133Ile (Ensembl:ENST00000399577) - c.398C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52151212 | 134 | I>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4652781A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4652781A>T Locations: - p.Ile134Phe (cosmic curated:ENST00000399577) - c.400A>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs376198884 | 134 | I>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000016.10:g.4652781A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652781A>C Locations: - p.Ile134Leu (Ensembl:ENST00000399577) - c.400A>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs749323134 | 134 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652782T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652782T>C Locations: - p.Ile134Thr (Ensembl:ENST00000399577) - c.401T>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs376198884 | 134 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000016.10:g.4652781A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652781A>G Locations: - p.Ile134Val (Ensembl:ENST00000399577) - c.400A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1277308368 | 135 | Y>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4652785A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652785A>C Locations: - p.Tyr135Ser (Ensembl:ENST00000399577) - c.404A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1226772563 | 137 | Q>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.764) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652791A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652791A>T Locations: - p.Gln137Leu (Ensembl:ENST00000399577) - c.410A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1226772563 | 137 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.817) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652791A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652791A>G Locations: - p.Gln137Arg (Ensembl:ENST00000399577) - c.410A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1377257164 | 138 | A>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652793G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652793G>C Locations: - p.Ala138Pro (Ensembl:ENST00000399577) - c.412G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1377257164 | 138 | A>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652793G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652793G>T Locations: - p.Ala138Ser (Ensembl:ENST00000399577) - c.412G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs760005992 | 139 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000016.10:g.4652797C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652797C>T Locations: - p.Ser139Leu (Ensembl:ENST00000399577) - c.416C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1450921488 | 139 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.4652796T>A Codon: TCG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652796T>A Locations: - p.Ser139Thr (Ensembl:ENST00000399577) - c.415T>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs775819143 | 140 | E>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652800A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652800A>G Locations: - p.Glu140Gly (Ensembl:ENST00000399577) - c.419A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV106352359 | 144 | N>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4652812A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4652812A>G Locations: - p.Asn144Ser (cosmic curated:ENST00000399577) - c.431A>G (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52149284 rs749935176 | 145 | G>D | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4652815G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652815G>A Locations: - p.Gly145Asp (Ensembl:ENST00000399577) - c.434G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV108055730 rs1192289812 | 145 | G>S | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4652814G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652814G>A Locations: - p.Gly145Ser (Ensembl:ENST00000399577) - c.433G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV106352361 rs749935176 | 145 | G>V | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4652815G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652815G>T Locations: - p.Gly145Val (Ensembl:ENST00000399577) - c.434G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1174018815 | 146 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4652818G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652818G>A Locations: - p.Arg146Lys (Ensembl:ENST00000399577) - c.437G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV104575607 rs201958896 | 147 | A>T | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4652820G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652820G>A Locations: - p.Ala147Thr (Ensembl:ENST00000399577) - c.439G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1466759648 | 148 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000016.10:g.4652824T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652824T>C Locations: - p.Val148Ala (Ensembl:ENST00000399577) - c.443T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078438888 | 148 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4652823G>T, NC_000016.10:g.4652823G>C Codon: GTA/TTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4652823G>T, NC_000016.10:g.4652823G>C Locations: - p.Val148Leu (Ensembl:ENST00000399577) - c.442G>T (Ensembl:ENST00000399577) - c.442G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1199029852 | 149 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657248A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657248A>G Locations: - p.Tyr149Cys (Ensembl:ENST00000399577) - c.446A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1442986144 | 150 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.452) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657250A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657250A>G Locations: - p.Ser150Gly (Ensembl:ENST00000399577) - c.448A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs202235487 | 150 | S>N | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated - low confidence (0.12) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000016.10:g.4657251G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657251G>A Locations: - p.Ser150Asn (Ensembl:ENST00000399577) - c.449G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1442986144 | 150 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.848) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657250A>C Codon: AGC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657250A>C Locations: - p.Ser150Arg (Ensembl:ENST00000399577) - c.448A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1426078988 | 151 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657254C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657254C>T Locations: - p.Pro151Leu (Ensembl:ENST00000399577) - c.452C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078566362 | 152 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.279) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657256A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657256A>G Locations: - p.Lys152Glu (Ensembl:ENST00000399577) - c.454A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274054 | 152 | K>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4657258G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4657258G>T Locations: - p.Lys152Asn (cosmic curated:ENST00000399577) - c.456G>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1054921691 | 152 | K>R | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000016.10:g.4657257A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657257A>G Locations: - p.Lys152Arg (Ensembl:ENST00000399577) - c.455A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078566422 | 153 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.4657260G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657260G>A Locations: - p.Ser153Asn (Ensembl:ENST00000399577) - c.458G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1466506472 | 153 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657261C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657261C>A Locations: - p.Ser153Arg (Ensembl:ENST00000399577) - c.459C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs894769781 | 154 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.691) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4657262C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657262C>G Locations: - p.Pro154Ala (Ensembl:ENST00000399577) - c.460C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078566567 | 154 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.848) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4657263C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657263C>T Locations: - p.Pro154Leu (Ensembl:ENST00000399577) - c.461C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs894769781 | 154 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.787) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4657262C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657262C>T Locations: - p.Pro154Ser (Ensembl:ENST00000399577) - c.460C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52148827 rs201648809 | 155 | S>L | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000016.10:g.4657266C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657266C>T Locations: - p.Ser155Leu (Ensembl:ENST00000399577) - c.464C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs201648809 | 155 | S>W | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.673) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657266C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657266C>G Locations: - p.Ser155Trp (Ensembl:ENST00000399577) - c.464C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs745491022 | 156 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.058) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657268C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657268C>G Locations: - p.Leu156Val (Ensembl:ENST00000399577) - c.466C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs897388494 | 157 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.4657271C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657271C>T Locations: - p.Gln157Ter (Ensembl:ENST00000399577) - c.469C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52153364 | 157 | Q>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4657272A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4657272A>T Locations: - p.Gln157Leu (cosmic curated:ENST00000399577) - c.470A>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs771747032 | 157 | Q>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.718) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4657272A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657272A>C Locations: - p.Gln157Pro (Ensembl:ENST00000399577) - c.470A>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs771747032 | 157 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.528) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000016.10:g.4657272A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657272A>G Locations: - p.Gln157Arg (Ensembl:ENST00000399577) - c.470A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1256405681 | 158 | S>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.831) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657275C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657275C>T Locations: - p.Ser158Phe (Ensembl:ENST00000399577) - c.473C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1596288882 | 158 | S>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.932) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657274T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657274T>C Locations: - p.Ser158Pro (Ensembl:ENST00000399577) - c.472T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1219057127 | 159 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.517) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657278A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657278A>C Locations: - p.Glu159Ala (Ensembl:ENST00000399577) - c.476A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs761551036 | 159 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.603) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657279G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657279G>C Locations: - p.Glu159Asp (Ensembl:ENST00000399577) - c.477G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52148697 rs776522571 | 159 | E>K | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.517) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4657277G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657277G>A Locations: - p.Glu159Lys (Ensembl:ENST00000399577) - c.475G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs764998848 | 160 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657281C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657281C>T Locations: - p.Thr160Ile (Ensembl:ENST00000399577) - c.479C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs758611746 | 161 | V>F | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.605) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657283G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657283G>T Locations: - p.Val161Phe (Ensembl:ENST00000399577) - c.481G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV105100637 rs758611746 | 161 | V>I | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000016.10:g.4657283G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657283G>A Locations: - p.Val161Ile (Ensembl:ENST00000399577) - c.481G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV105864394 rs758611746 | 161 | V>L | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4657283G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657283G>C Locations: - p.Val161Leu (Ensembl:ENST00000399577) - c.481G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1184825208 | 162 | H>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.344) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4657286C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657286C>A Locations: - p.His162Asn (Ensembl:ENST00000399577) - c.484C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1184825208 | 162 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4657286C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657286C>T Locations: - p.His162Tyr (Ensembl:ENST00000399577) - c.484C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs946956761 | 163 | Y>C | Variant of uncertain significance (Ensembl) | 1000Genomes TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4657290A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657290A>G Locations: - p.Tyr163Cys (Ensembl:ENST00000399577) - c.488A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs946956761 | 163 | Y>F | Variant of uncertain significance (Ensembl) | 1000Genomes TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657290A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657290A>T Locations: - p.Tyr163Phe (Ensembl:ENST00000399577) - c.488A>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs755510350 | 163 | Y>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4657289T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657289T>C Locations: - p.Tyr163His (Ensembl:ENST00000399577) - c.487T>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs781511044 | 164 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657292A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657292A>G Locations: - p.Lys164Glu (Ensembl:ENST00000399577) - c.490A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs746091759 | 164 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657294G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657294G>C Locations: - p.Lys164Asn (Ensembl:ENST00000399577) - c.492G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078567790 | 164 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.354) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657293A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657293A>G Locations: - p.Lys164Arg (Ensembl:ENST00000399577) - c.491A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52151485 rs748568335 | 165 | R>T | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.73) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4657296G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657296G>C Locations: - p.Arg165Thr (Ensembl:ENST00000399577) - c.494G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV105864376 rs754852925 | 166 | G>R | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4657298G>A, NC_000016.10:g.4657298G>C Codon: GGG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657298G>A, NC_000016.10:g.4657298G>C Locations: - p.Gly166Arg (Ensembl:ENST00000399577) - c.496G>A (Ensembl:ENST00000399577) - c.496G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52151006 | 166 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4657299G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4657299G>T Locations: - p.Gly166Val (cosmic curated:ENST00000399577) - c.497G>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1596288954 | 167 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.779) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657302T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657302T>G Locations: - p.Val167Gly (Ensembl:ENST00000399577) - c.500T>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV105100523 rs778249713 | 167 | V>L | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000016.10:g.4657301G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657301G>C Locations: - p.Val167Leu (Ensembl:ENST00000399577) - c.499G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1567200676 | 168 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4657304A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657304A>G Locations: - p.Ser168Gly (Ensembl:ENST00000399577) - c.502A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078568095 | 168 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.633) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657306C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657306C>G Locations: - p.Ser168Arg (Ensembl:ENST00000399577) - c.504C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs137991944 | 169 | Q>* | 1000Genomes ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4657307C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657307C>T Locations: - p.Gln169Ter (Ensembl:ENST00000399577) - c.505C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1449630829 | 169 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657309G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657309G>C Locations: - p.Gln169His (Ensembl:ENST00000399577) - c.507G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs775070877 | 170 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000016.10:g.4657312G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657312G>T Locations: - p.Gln170His (Ensembl:ENST00000399577) - c.510G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs771794136 | 170 | Q>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657311A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657311A>T Locations: - p.Gln170Leu (Ensembl:ENST00000399577) - c.509A>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs746464025 | 171 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657313T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657313T>C Locations: - p.Phe171Leu (Ensembl:ENST00000399577) - c.511T>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52150698 COSV52153007 rs776483157 | 171 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious (0.02) - PolyPhen: benign (0.066) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00004007 (gnomAD) Accession: NC_000016.10:g.4657315C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657315C>A Locations: - p.F171L (NCI-TCGA:ENST00000399577) - p.Phe171Leu (Ensembl:ENST00000399577) - c.513C>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs762927294 | 171 | F>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.407) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657314T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657314T>A Locations: - p.Phe171Tyr (Ensembl:ENST00000399577) - c.512T>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV108055653 rs761712307 | 172 | S>C | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Accession: NC_000016.10:g.4657317C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657317C>G Locations: - p.Ser172Cys (Ensembl:ENST00000399577) - c.515C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs761712307 | 172 | S>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.488) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657317C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657317C>T Locations: - p.Ser172Phe (Ensembl:ENST00000399577) - c.515C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs2078568645 | 173 | L>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.841) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657320T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657320T>A Locations: - p.Leu173Gln (Ensembl:ENST00000399577) - c.518T>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1279655026 | 173 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.273) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657319C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657319C>G Locations: - p.Leu173Val (Ensembl:ENST00000399577) - c.517C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs765086784 | 174 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.279) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657323C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657323C>T Locations: - p.Pro174Leu (Ensembl:ENST00000399577) - c.521C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs2141898710 | 174 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.279) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657322C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657322C>T Locations: - p.Pro174Ser (Ensembl:ENST00000399577) - c.520C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1166421755 | 175 | S>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.322) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657325T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657325T>G Locations: - p.Ser175Ala (Ensembl:ENST00000399577) - c.523T>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1262522178 | 176 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657328T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657328T>C Locations: - p.Phe176Leu (Ensembl:ENST00000399577) - c.526T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1194809432 | 176 | F>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657329T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657329T>C Locations: - p.Phe176Ser (Ensembl:ENST00000399577) - c.527T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs772974063 | 177 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.587) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657331A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657331A>G Locations: - p.Lys177Glu (Ensembl:ENST00000399577) - c.529A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
TCGA novel | 177 | K>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000016.10:g.4657332A>G Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657332A>G Locations: - c.530A>G (NCI-TCGA:ENST00000399577) - p.K177R (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs763172231 | 178 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.789) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657335T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657335T>C Locations: - p.Ile178Thr (Ensembl:ENST00000399577) - c.533T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078569090 | 178 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.397) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4657334A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657334A>G Locations: - p.Ile178Val (Ensembl:ENST00000399577) - c.532A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs766441935 | 179 | D>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657337G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657337G>C Locations: - p.Asp179His (Ensembl:ENST00000399577) - c.535G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs766441935 | 179 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4657337G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657337G>A Locations: - p.Asp179Asn (Ensembl:ENST00000399577) - c.535G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs766441935 | 179 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0.04) - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000008014 (gnomAD) Accession: NC_000016.10:g.4657337G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657337G>T Locations: - p.D179Y (NCI-TCGA:ENST00000399577) - p.Asp179Tyr (Ensembl:ENST00000399577) - c.535G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
TCGA novel rs547655913 | 180 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA 1000Genomes ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (1) - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4657342C>A, NC_000016.10:g.4657342C>G Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657342C>A, NC_000016.10:g.4657342C>G Locations: - c.540C>A (NCI-TCGA:ENST00000399577) - p.F180L (NCI-TCGA:ENST00000399577) - p.Phe180Leu (Ensembl:ENST00000399577) - c.540C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2141898759 | 180 | F>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.364) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657340T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657340T>G Locations: - p.Phe180Val (Ensembl:ENST00000399577) - c.538T>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs754962642 | 181 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.02) - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.07) Somatic: No Population frequencies: - MAF: 0.00001202 (gnomAD) Accession: NC_000016.10:g.4657344C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657344C>T Locations: - p.S181L (NCI-TCGA:ENST00000399577) - p.Ser181Leu (Ensembl:ENST00000399577) - c.542C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078569584 | 182 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000016.10:g.4657348A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657348A>T Locations: - p.Glu182Asp (Ensembl:ENST00000399577) - c.546A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078569551 | 182 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4657346G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657346G>C Locations: - p.Glu182Gln (Ensembl:ENST00000399577) - c.544G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1156338106 | 183 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.4657350G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657350G>A Locations: - p.Trp183Ter (Ensembl:ENST00000399577) - c.548G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs753296392 | 183 | W>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657349T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657349T>C Locations: - p.Trp183Arg (Ensembl:ENST00000399577) - c.547T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1266965036 | 185 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.444) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657356A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657356A>G Locations: - p.Asp185Gly (Ensembl:ENST00000399577) - c.554A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs529922500 | 186 | D>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: NC_000016.10:g.4657360C>G, NC_000016.10:g.4657360C>A Codon: GAC/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657360C>G, NC_000016.10:g.4657360C>A Locations: - p.Asp186Glu (Ensembl:ENST00000399577) - c.558C>G (Ensembl:ENST00000399577) - c.558C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078569746 | 186 | D>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.648) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4657359A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657359A>T Locations: - p.Asp186Val (Ensembl:ENST00000399577) - c.557A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs549665666 | 187 | E>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.448) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4657361G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657361G>A Locations: - p.Glu187Lys (Ensembl:ENST00000399577) - c.559G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs549665666 | 187 | E>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.718) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4657361G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4657361G>C Locations: - p.Glu187Gln (Ensembl:ENST00000399577) - c.559G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs896267391 | 188 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.44) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.451) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4664709C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664709C>G Locations: - p.L188V (NCI-TCGA:ENST00000399577) - p.Leu188Val (Ensembl:ENST00000399577) - c.562C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs201637313 | 189 | N>D | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.208) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4664712A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664712A>G Locations: - p.Asn189Asp (Ensembl:ENST00000399577) - c.565A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs764248204 | 189 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4664713A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664713A>G Locations: - p.Asn189Ser (Ensembl:ENST00000399577) - c.566A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs754439115 | 190 | F>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664716T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664716T>C Locations: - p.Phe190Ser (Ensembl:ENST00000399577) - c.569T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078759918 | 191 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.298) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664720C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664720C>G Locations: - p.Asp191Glu (Ensembl:ENST00000399577) - c.573C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1332277475 | 191 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.793) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664718G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664718G>C Locations: - p.Asp191His (Ensembl:ENST00000399577) - c.571G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1416191177 | 193 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.456) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4664725A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664725A>G Locations: - p.Asp193Gly (Ensembl:ENST00000399577) - c.578A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52155167 | 193 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4664724G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4664724G>A Locations: - p.Asp193Asn (cosmic curated:ENST00000399577) - c.577G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs762380681 | 194 | R>G | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.166) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664727C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664727C>G Locations: - p.Arg194Gly (Ensembl:ENST00000399577) - c.580C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs750745824 | 194 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.318) - SIFT: deleterious (0.01) - PolyPhen: benign (0.314) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000008013 (gnomAD) Accession: NC_000016.10:g.4664728G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664728G>A Locations: - p.R194Q (NCI-TCGA:ENST00000399577) - p.Arg194Gln (Ensembl:ENST00000399577) - c.581G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs762380681 | 194 | R>W | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.85) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664727C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664727C>T Locations: - p.Arg194Trp (Ensembl:ENST00000399577) - c.580C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs754587543 | 195 | G>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664730G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664730G>T Locations: - p.Gly195Cys (Ensembl:ENST00000399577) - c.583G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs754587543 | 195 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4664730G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664730G>A Locations: - p.Gly195Ser (Ensembl:ENST00000399577) - c.583G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs2078760178 | 195 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664731G>T Codon: GGC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664731G>T Locations: - p.Gly195Val (Ensembl:ENST00000399577) - c.584G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52152079 rs369031220 | 196 | V>L | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4664733G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664733G>T Locations: - p.Val196Leu (Ensembl:ENST00000399577) - c.586G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs369031220 | 196 | V>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4664733G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664733G>A Locations: - p.Val196Met (Ensembl:ENST00000399577) - c.586G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1181439173 | 197 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.413) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664736T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664736T>C Locations: - p.Phe197Leu (Ensembl:ENST00000399577) - c.589T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1457938428 | 197 | F>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.809) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4664737T>A Codon: TTT/TAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664737T>A Locations: - p.Phe197Tyr (Ensembl:ENST00000399577) - c.590T>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078760588 | 198 | P>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.853) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664740C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664740C>A Locations: - p.Pro198Gln (Ensembl:ENST00000399577) - c.593C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1234152125 | 198 | P>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664739C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664739C>A Locations: - p.Pro198Thr (Ensembl:ENST00000399577) - c.592C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078760699 | 199 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.273) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664743T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664743T>C Locations: - p.Val199Ala (Ensembl:ENST00000399577) - c.596T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs757204916 | 199 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.273) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4664742G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664742G>A Locations: - p.Val199Ile (Ensembl:ENST00000399577) - c.595G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs757204916 | 199 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000016.10:g.4664742G>C Codon: GTA/CTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664742G>C Locations: - p.Val199Leu (Ensembl:ENST00000399577) - c.595G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs986991314 | 200 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4664745G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664745G>C Locations: - p.Val200Leu (Ensembl:ENST00000399577) - c.598G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs375630510 | 201 | I>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.485) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664750C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664750C>G Locations: - p.Ile201Met (Ensembl:ENST00000399577) - c.603C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1441429811 | 201 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000016.10:g.4664748A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664748A>G Locations: - p.Ile201Val (Ensembl:ENST00000399577) - c.601A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs772207904 | 202 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.637) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.4664753G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664753G>T Locations: - p.Gln202His (Ensembl:ENST00000399577) - c.606G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs529336988 | 202 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000016.10:g.4664752A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664752A>G Locations: - p.Gln202Arg (Ensembl:ENST00000399577) - c.605A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs912638673 | 203 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.581) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664754G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664754G>A Locations: - p.Ala203Thr (Ensembl:ENST00000399577) - c.607G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1169730863 | 203 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664755C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664755C>T Locations: - p.Ala203Val (Ensembl:ENST00000399577) - c.608C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs775904616 | 205 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4664760G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664760G>C Locations: - p.Val205Leu (Ensembl:ENST00000399577) - c.613G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs775904616 | 205 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.737) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664760G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664760G>A Locations: - p.Val205Met (Ensembl:ENST00000399577) - c.613G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52151307 | 206 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4664763G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4664763G>A Locations: - p.Asp206Asn (cosmic curated:ENST00000399577) - c.616G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99273894 COSV99274013 | 207 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4664766G>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664766G>T Locations: - p.E207* (NCI-TCGA:ENST00000399577) - p.Glu207Ter (cosmic curated:ENST00000399577) - c.619G>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274013 | 207 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4664766G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4664766G>A Locations: - p.Glu207Lys (cosmic curated:ENST00000399577) - c.619G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2141923540 | 207 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.54) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664766G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664766G>C Locations: - p.Glu207Gln (Ensembl:ENST00000399577) - c.619G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
TCGA novel | 207-208 | EG>missing | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: insertion Somatic: No Accession: NC_000016.10:g.4664765_4664766insGAAGGA Consequence type: insertion Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664765_4664766insGAAGGA Locations: - c.621_626dup (NCI-TCGA:ENST00000399577) - p.E207_G208dup (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs975437732 | 208 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664770G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664770G>A Locations: - p.Gly208Glu (Ensembl:ENST00000399577) - c.623G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1401760451 | 209 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.272) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664774T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664774T>G Locations: - p.Asp209Glu (Ensembl:ENST00000399577) - c.627T>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078761174 | 209 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4664773A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664773A>G Locations: - p.Asp209Gly (Ensembl:ENST00000399577) - c.626A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078761149 | 209 | D>N | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.54) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4664772G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4664772G>A Locations: - p.Asp209Asn (Ensembl:ENST00000399577) - c.625G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52151564 | 210 | V>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: - Somatic: Yes Accession: NC_000016.10:g.4665103G>T Consequence type: - Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665103G>T Locations: - c.630G>T (NCI-TCGA:ENST00000399577) - p.V210= (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1160872060 | 211 | V>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4665104G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665104G>C Locations: - p.Val211Leu (Ensembl:ENST00000399577) - c.631G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs769954022 | 212 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4665107G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665107G>A Locations: - p.Glu212Lys (Ensembl:ENST00000399577) - c.634G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs557550690 | 214 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4665113A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665113A>G Locations: - p.Thr214Ala (Ensembl:ENST00000399577) - c.640A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs369656469 | 215 | G>C | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4665116G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665116G>T Locations: - p.Gly215Cys (Ensembl:ENST00000399577) - c.643G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs369656469 | 215 | G>S | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4665116G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665116G>A Locations: - p.Gly215Ser (Ensembl:ENST00000399577) - c.643G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1242446793 | 216 | H>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4665119C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665119C>G Locations: - p.His216Asp (Ensembl:ENST00000399577) - c.646C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs746652031 | 216 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4665121C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665121C>A Locations: - p.His216Gln (Ensembl:ENST00000399577) - c.648C>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1242446793 | 216 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4665119C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665119C>T Locations: - p.His216Tyr (Ensembl:ENST00000399577) - c.646C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078772012 | 217 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.298) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4665123C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665123C>G Locations: - p.Ala217Gly (Ensembl:ENST00000399577) - c.650C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52149070 rs372657927 | 217 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.377) - SIFT: deleterious (0.04) - PolyPhen: benign (0.372) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00002405 (gnomAD) Accession: NC_000016.10:g.4665122G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665122G>A Locations: - p.A217T (NCI-TCGA:ENST00000399577) - p.Ala217Thr (Ensembl:ENST00000399577) - c.649G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV99274706 rs2078772012 | 217 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.524) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.534) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4665123C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665123C>T Locations: - p.A217V (NCI-TCGA:ENST00000399577) - p.Ala217Val (Ensembl:ENST00000399577) - c.650C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs375802956 | 218 | H>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.52) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4665127C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665127C>A Locations: - p.His218Gln (Ensembl:ENST00000399577) - c.654C>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs776387378 | 219 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.704) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4665128G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665128G>A Locations: - p.Val219Met (Ensembl:ENST00000399577) - c.655G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs373230459 | 220 | L>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.798) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4665131C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665131C>T Locations: - p.Leu220Phe (Ensembl:ENST00000399577) - c.658C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs2141924788 | 220 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.74) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4665132T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665132T>C Locations: - p.Leu220Pro (Ensembl:ENST00000399577) - c.659T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs373230459 | 220 | L>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.298) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4665131C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665131C>G Locations: - p.Leu220Val (Ensembl:ENST00000399577) - c.658C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs762992853 | 221 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.848) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4665136G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665136G>T Locations: - p.Leu221Phe (Ensembl:ENST00000399577) - c.663G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078772289 | 221 | L>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.937) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4665135T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665135T>C Locations: - p.Leu221Ser (Ensembl:ENST00000399577) - c.662T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1164759482 | 222 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4665138C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665138C>T Locations: - p.Ala222Val (Ensembl:ENST00000399577) - c.665C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274005 | 223 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.51) Somatic: Yes Accession: NC_000016.10:g.4665141C>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665141C>T Locations: - p.A223V (NCI-TCGA:ENST00000399577) - p.Ala223Val (cosmic curated:ENST00000399577) - c.668C>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52150742 rs2141924822 | 224 | F>L | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000016.10:g.4665143T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665143T>C Locations: - p.Phe224Leu (Ensembl:ENST00000399577) - c.670T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078772401 | 225 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4665147A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665147A>G Locations: - p.Glu225Gly (Ensembl:ENST00000399577) - c.674A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
TCGA novel | 225 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4665146G>C Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4665146G>C Locations: - c.673G>C (NCI-TCGA:ENST00000399577) - p.E225Q (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs995334537 | 227 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.397) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4668265C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668265C>T Locations: - p.His227Tyr (Ensembl:ENST00000399577) - c.679C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs778961295 | 228 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4668268A>C Codon: ATG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668268A>C Locations: - p.Met228Leu (Ensembl:ENST00000399577) - c.682A>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs2078850592 | 228 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.4668269T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668269T>C Locations: - p.Met228Thr (Ensembl:ENST00000399577) - c.683T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs778961295 | 228 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.4668268A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668268A>G Locations: - p.Met228Val (Ensembl:ENST00000399577) - c.682A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs558840883 | 229 | D>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4668273C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668273C>A Locations: - p.Asp229Glu (Ensembl:ENST00000399577) - c.687C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274164 | 230 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000016.10:g.4668274G>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668274G>T Locations: - p.G230C (NCI-TCGA:ENST00000399577) - p.Gly230Cys (cosmic curated:ENST00000399577) - c.688G>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99275049 rs1375456780 | 230 | G>D | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4668275G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668275G>A Locations: - p.Gly230Asp (Ensembl:ENST00000399577) - c.689G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs758776706 | 230 | G>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4668274G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668274G>C Locations: - p.Gly230Arg (Ensembl:ENST00000399577) - c.688G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV99274164 rs758776706 | 230 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.00007615 (gnomAD) Accession: NC_000016.10:g.4668274G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668274G>A Locations: - p.G230S (NCI-TCGA:ENST00000399577) - p.Gly230Ser (Ensembl:ENST00000399577) - c.688G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078850759 | 231 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.269) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4668278G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668278G>A Locations: - p.Ser231Asn (Ensembl:ENST00000399577) - c.692G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52149027 rs747300145 | 233 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.13) - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000004007 (gnomAD) Accession: NC_000016.10:g.4668284C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668284C>T Locations: - p.S233F (NCI-TCGA:ENST00000399577) - p.Ser233Phe (Ensembl:ENST00000399577) - c.698C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1458081603 | 234 | V>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4668286G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668286G>C Locations: - p.Val234Leu (Ensembl:ENST00000399577) - c.700G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1359789058 | 236 | P>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4668292C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668292C>G Locations: - p.Pro236Ala (Ensembl:ENST00000399577) - c.706C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1359789058 | 236 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4668292C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668292C>A Locations: - p.Pro236Thr (Ensembl:ENST00000399577) - c.706C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs769513294 | 237 | L>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4668296T>C Codon: TTA/TCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668296T>C Locations: - p.Leu237Ser (Ensembl:ENST00000399577) - c.710T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1218811609 | 238 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.581) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4668300G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668300G>C Locations: - p.Lys238Asn (Ensembl:ENST00000399577) - c.714G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs748915359 | 238 | K>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4668298A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668298A>C Locations: - p.Lys238Gln (Ensembl:ENST00000399577) - c.712A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs770629013 | 239 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4668303G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668303G>C Locations: - p.Gln239His (Ensembl:ENST00000399577) - c.717G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99273629 | 241 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4668307C>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4668307C>T Locations: - p.Q241* (NCI-TCGA:ENST00000399577) - p.Gln241Ter (cosmic curated:ENST00000399577) - c.721C>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078934579 | 243 | V>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4671391G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671391G>A Locations: - p.Val243Met (Ensembl:ENST00000399577) - c.727G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs749488380 | 244 | D>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4671395A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671395A>C Locations: - p.Asp244Ala (Ensembl:ENST00000399577) - c.731A>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs372788282 | 244 | D>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4671394G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671394G>A Locations: - p.Asp244Asn (Ensembl:ENST00000399577) - c.730G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs774328339 | 245 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4671398G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671398G>A Locations: - p.Arg245Gln (Ensembl:ENST00000399577) - c.734G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52148848 rs771120818 | 245 | R>W | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4671397C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671397C>T Locations: - p.Arg245Trp (Ensembl:ENST00000399577) - c.733C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs376381693 | 246 | V>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4671400G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671400G>A Locations: - p.Val246Ile (Ensembl:ENST00000399577) - c.736G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs2078934845 | 247 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4671403A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671403A>T Locations: - p.Ser247Cys (Ensembl:ENST00000399577) - c.739A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs368889081 | 247 | S>I | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4671404G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671404G>T Locations: - p.Ser247Ile (Ensembl:ENST00000399577) - c.740G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs368889081 | 247 | S>N | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4671404G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671404G>A Locations: - p.Ser247Asn (Ensembl:ENST00000399577) - c.740G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs368889081 | 247 | S>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4671404G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671404G>C Locations: - p.Ser247Thr (Ensembl:ENST00000399577) - c.740G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs200319149 | 248 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4671407A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671407A>G Locations: - p.Tyr248Cys (Ensembl:ENST00000399577) - c.743A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs761250006 | 248 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4671406T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671406T>C Locations: - p.Tyr248His (Ensembl:ENST00000399577) - c.742T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs764378037 | 249 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4671409C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671409C>T Locations: - p.Leu249Phe (Ensembl:ENST00000399577) - c.745C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs764378037 | 249 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4671409C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671409C>G Locations: - p.Leu249Val (Ensembl:ENST00000399577) - c.745C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV99273787 | 251 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4671415C>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671415C>T Locations: - p.Q251* (NCI-TCGA:ENST00000399577) - p.Gln251Ter (cosmic curated:ENST00000399577) - c.751C>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52148934 rs766004449 | 252 | E>D | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4671420G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671420G>T Locations: - p.Glu252Asp (Ensembl:ENST00000399577) - c.756G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs201053994 | 253 | I>M | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4671423C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671423C>G Locations: - p.Ile253Met (Ensembl:ENST00000399577) - c.759C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078935269 | 254 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4671425A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671425A>G Locations: - p.Tyr254Cys (Ensembl:ENST00000399577) - c.761A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV108055824 | 255 | G>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4671428G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4671428G>A Locations: - p.Gly255Asp (cosmic curated:ENST00000399577) - c.764G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078935297 | 256 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4671430A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671430A>C Locations: - p.Ile256Leu (Ensembl:ENST00000399577) - c.766A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52150914 | 258 | N>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000016.10:g.4671437A>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671437A>T Locations: - p.N258I (NCI-TCGA:ENST00000399577) - p.Asn258Ile (cosmic curated:ENST00000399577) - c.773A>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs527392096 | 258 | N>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4671438C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671438C>G Locations: - p.Asn258Lys (Ensembl:ENST00000399577) - c.774C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078935362 | 260 | N>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4671443A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671443A>C Locations: - p.Asn260Thr (Ensembl:ENST00000399577) - c.779A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs547131374 | 261 | N>K | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4671447C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671447C>G Locations: - p.Asn261Lys (Ensembl:ENST00000399577) - c.783C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV99273878 | 262 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000016.10:g.4671450G>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671450G>T Locations: - p.Q262H (NCI-TCGA:ENST00000399577) - p.Gln262His (cosmic curated:ENST00000399577) - c.786G>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1394671488 | 262 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4671449A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671449A>G Locations: - p.Gln262Arg (Ensembl:ENST00000399577) - c.785A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52152836 | 263 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4671451G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4671451G>T Locations: - p.Glu263Ter (cosmic curated:ENST00000399577) - c.787G>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1175546152 | 264 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4671454A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671454A>T Locations: - p.Thr264Ser (Ensembl:ENST00000399577) - c.790A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs567276557 | 265 | K>E | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000588697 (1000Genomes) Accession: NC_000016.10:g.4671457A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4671457A>G Locations: - p.Lys265Glu (Ensembl:ENST00000399577) - c.793A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs768844802 | 266 | P>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673499C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673499C>A Locations: - p.Pro266His (Ensembl:ENST00000399577) - c.797C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52154842 | 266 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.77) - SIFT: tolerated (0.16) Somatic: Yes Accession: NC_000016.10:g.4673499C>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673499C>T Locations: - p.P266L (NCI-TCGA:ENST00000399577) - p.Pro266Leu (cosmic curated:ENST00000399577) - c.797C>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1252165993 | 266 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673498C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673498C>T Locations: - p.Pro266Ser (Ensembl:ENST00000399577) - c.796C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52148312 rs770137190 | 267 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: tolerated (0.11) - PolyPhen: benign (0.145) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000008065 (gnomAD) Accession: NC_000016.10:g.4673502C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673502C>T Locations: - p.S267L (NCI-TCGA:ENST00000399577) - p.Ser267Leu (Ensembl:ENST00000399577) - c.800C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs770137190 | 267 | S>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.758) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673502C>G Codon: TCG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673502C>G Locations: - p.Ser267Trp (Ensembl:ENST00000399577) - c.800C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs367598108 | 268 | D>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000016.10:g.4673506C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673506C>G Locations: - p.Asp268Glu (Ensembl:ENST00000399577) - c.804C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs775164708 | 268 | D>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673505A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673505A>T Locations: - p.Asp268Val (Ensembl:ENST00000399577) - c.803A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs200448887 | 269 | D>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.15) Somatic: No Population frequencies: - MAF: 0.00137363 (1000Genomes) Accession: NC_000016.10:g.4673509C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673509C>G Locations: - p.Asp269Glu (Ensembl:ENST00000399577) - c.807C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1160958383 | 269 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673508A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673508A>G Locations: - p.Asp269Gly (Ensembl:ENST00000399577) - c.806A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV106088906 rs753220982 | 269 | D>N | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.247) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4673507G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673507G>A Locations: - p.Asp269Asn (Ensembl:ENST00000399577) - c.805G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs753220982 | 269 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.746) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673507G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673507G>T Locations: - p.Asp269Tyr (Ensembl:ENST00000399577) - c.805G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52151737 rs1440372740 | 270 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.31) - SIFT: deleterious (0.03) - PolyPhen: benign (0.306) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000004012 (gnomAD) Accession: NC_000016.10:g.4673510G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673510G>A Locations: - p.E270K (NCI-TCGA:ENST00000399577) - p.Glu270Lys (Ensembl:ENST00000399577) - c.808G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1440372740 | 270 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.663) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673510G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673510G>C Locations: - p.Glu270Gln (Ensembl:ENST00000399577) - c.808G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1374027200 | 271 | N>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.764) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673513A>T Codon: AAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673513A>T Locations: - p.Asn271Tyr (Ensembl:ENST00000399577) - c.811A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52149397 rs367993132 | 272 | S>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.491) - SIFT: deleterious (0.03) - PolyPhen: benign (0.351) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000004004 (gnomAD) Accession: NC_000016.10:g.4673518C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673518C>G Locations: - p.S272R (NCI-TCGA:ENST00000399577) - p.Ser272Arg (Ensembl:ENST00000399577) - c.816C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs750360710 | 272 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.25) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673517G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673517G>C Locations: - p.Ser272Thr (Ensembl:ENST00000399577) - c.815G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs779986534 | 273 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.699) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4673519G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673519G>A Locations: - p.Asp273Asn (Ensembl:ENST00000399577) - c.817G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
TCGA novel | 274 | N>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.4673522A>C Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673522A>C Locations: - c.820A>C (NCI-TCGA:ENST00000399577) - p.N274H (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 274 | N>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.528) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.4673523A>C Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673523A>C Locations: - c.821A>C (NCI-TCGA:ENST00000399577) - p.N274T (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV52149265 | 275 | S>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4673526G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4673526G>A Locations: - p.Ser275Asn (cosmic curated:ENST00000399577) - c.824G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs751862904 | 276 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.402) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673530C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673530C>G Locations: - p.Asn276Lys (Ensembl:ENST00000399577) - c.828C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1374620587 | 276 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000016.10:g.4673529A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673529A>G Locations: - p.Asn276Ser (Ensembl:ENST00000399577) - c.827A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs755101650 | 277 | E>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.4673531G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673531G>T Locations: - p.Glu277Ter (Ensembl:ENST00000399577) - c.829G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs34075195 | 277 | E>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.636) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673532A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673532A>C Locations: - p.Glu277Ala (Ensembl:ENST00000399577) - c.830A>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs755101650 | 277 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.712) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673531G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673531G>A Locations: - p.Glu277Lys (Ensembl:ENST00000399577) - c.829G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99074830 rs755101650 | 277 | E>Q | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.825) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4673531G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673531G>C Locations: - p.Glu277Gln (Ensembl:ENST00000399577) - c.829G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1273423077 | 279 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.434) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673537G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673537G>C Locations: - p.Val279Leu (Ensembl:ENST00000399577) - c.835G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52150629 | 282 | L>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4673547T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4673547T>A Locations: - p.Leu282Gln (cosmic curated:ENST00000399577) - c.845T>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52148419 | 283 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4673550C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4673550C>T Locations: - p.Ser283Phe (cosmic curated:ENST00000399577) - c.848C>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1596308281 | 284 | D>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.625) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673553A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673553A>C Locations: - p.Asp284Ala (Ensembl:ENST00000399577) - c.851A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs778303104 | 284 | D>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673552G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673552G>C Locations: - p.Asp284His (Ensembl:ENST00000399577) - c.850G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs778303104 | 284 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.797) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673552G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673552G>A Locations: - p.Asp284Asn (Ensembl:ENST00000399577) - c.850G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1460723563 | 285 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.176) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673556T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673556T>C Locations: - p.Leu285Pro (Ensembl:ENST00000399577) - c.854T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52153700 rs746677773 | 286 | R>Q | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4673559G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673559G>A Locations: - p.Arg286Gln (Ensembl:ENST00000399577) - c.857G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52152169 rs774566837 | 286 | R>W | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4673558C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673558C>T Locations: - p.Arg286Trp (Ensembl:ENST00000399577) - c.856C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078988399 | 287 | D>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.824) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673563C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673563C>A Locations: - p.Asp287Glu (Ensembl:ENST00000399577) - c.861C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274901 | 287 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4673561G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4673561G>A Locations: - p.Asp287Asn (cosmic curated:ENST00000399577) - c.859G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1328215883 | 288 | T>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673565C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673565C>T Locations: - p.Thr288Met (Ensembl:ENST00000399577) - c.863C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1328215883 | 288 | T>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.801) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673565C>G Codon: ACG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673565C>G Locations: - p.Thr288Arg (Ensembl:ENST00000399577) - c.863C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52150893 | 289 | L>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4673568T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4673568T>C Locations: - p.Leu289Pro (cosmic curated:ENST00000399577) - c.866T>C (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs996251737 | 289 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.864) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673567C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673567C>G Locations: - p.Leu289Val (Ensembl:ENST00000399577) - c.865C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs909674780 | 290 | I>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673570A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673570A>T Locations: - p.Ile290Phe (Ensembl:ENST00000399577) - c.868A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs909674780 | 290 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.081) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673570A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673570A>G Locations: - p.Ile290Val (Ensembl:ENST00000399577) - c.868A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs369556749 | 294 | R>C | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673582C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673582C>T Locations: - p.Arg294Cys (Ensembl:ENST00000399577) - c.880C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV104575576 rs201033314 | 294 | R>H | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4673583G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673583G>A Locations: - p.Arg294His (Ensembl:ENST00000399577) - c.881G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs201033314 | 294 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673583G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673583G>T Locations: - p.Arg294Leu (Ensembl:ENST00000399577) - c.881G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV99274052 | 294 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4673582C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4673582C>A Locations: - p.Arg294Ser (cosmic curated:ENST00000399577) - c.880C>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078988914 | 297 | C>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.225) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673591T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673591T>A Locations: - p.Cys297Ser (Ensembl:ENST00000399577) - c.889T>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs762966871 | 297 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.804) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673592G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673592G>A Locations: - p.Cys297Tyr (Ensembl:ENST00000399577) - c.890G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV99274904 | 298 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4673594C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4673594C>A Locations: - p.Leu298Ile (cosmic curated:ENST00000399577) - c.892C>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs766286891 | 298 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.738) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673594C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673594C>G Locations: - p.Leu298Val (Ensembl:ENST00000399577) - c.892C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1255278998 | 300 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.147) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673601C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673601C>T Locations: - p.Thr300Ile (Ensembl:ENST00000399577) - c.899C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1050442999 | 300 | T>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673600A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673600A>C Locations: - p.Thr300Pro (Ensembl:ENST00000399577) - c.898A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1050442999 | 300 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.161) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4673600A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673600A>T Locations: - p.Thr300Ser (Ensembl:ENST00000399577) - c.898A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs796858556 | 301 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673604C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673604C>T Locations: - p.Ser301Phe (Ensembl:ENST00000399577) - c.902C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1474509251 | 303 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.738) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673610C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673610C>G Locations: - p.Ala303Gly (Ensembl:ENST00000399577) - c.908C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs889925387 | 303 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.801) - SIFT: deleterious (0.01) - PolyPhen: possibly damaging (0.797) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00000399 (gnomAD) Accession: NC_000016.10:g.4673609G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673609G>A Locations: - p.A303T (NCI-TCGA:ENST00000399577) - p.Ala303Thr (Ensembl:ENST00000399577) - c.907G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52148270 rs1474509251 | 303 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.848) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4673610C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673610C>T Locations: - p.A303V (NCI-TCGA:ENST00000399577) - p.Ala303Val (Ensembl:ENST00000399577) - c.908C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52150708 rs1033095057 | 304 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.853) - SIFT: deleterious (0.03) - PolyPhen: possibly damaging (0.851) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4673612G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673612G>A Locations: - p.D304N (NCI-TCGA:ENST00000399577) - p.Asp304Asn (Ensembl:ENST00000399577) - c.910G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1033095057 | 304 | D>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673612G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673612G>T Locations: - p.Asp304Tyr (Ensembl:ENST00000399577) - c.910G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1397380373 | 305 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.404) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673615A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673615A>G Locations: - p.Thr305Ala (Ensembl:ENST00000399577) - c.913A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs752945558 | 305 | T>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673616C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673616C>T Locations: - p.Thr305Met (Ensembl:ENST00000399577) - c.914C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs777827864 | 307 | R>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.894) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673622G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673622G>A Locations: - p.Arg307His (Ensembl:ENST00000399577) - c.920G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1315128902 | 308 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673625A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673625A>G Locations: - p.Tyr308Cys (Ensembl:ENST00000399577) - c.923A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1315128902 | 308 | Y>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.482) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673625A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673625A>T Locations: - p.Tyr308Phe (Ensembl:ENST00000399577) - c.923A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52153873 | 309 | Q>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4673627C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4673627C>G Locations: - p.Gln309Glu (cosmic curated:ENST00000399577) - c.925C>G (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs749852307 | 310 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.539) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673631C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673631C>T Locations: - p.Ala310Val (Ensembl:ENST00000399577) - c.929C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1269222772 | 311 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000016.10:g.4673634A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673634A>G Locations: - p.Asn311Ser (Ensembl:ENST00000399577) - c.932A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1269222772 | 311 | N>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.306) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673634A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673634A>C Locations: - p.Asn311Thr (Ensembl:ENST00000399577) - c.932A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078989749 | 312 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.759) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673638C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673638C>G Locations: - p.Asn312Lys (Ensembl:ENST00000399577) - c.936C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs779366047 | 312 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4673637A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673637A>G Locations: - p.Asn312Ser (Ensembl:ENST00000399577) - c.935A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs746168311 | 313 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673640G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673640G>A Locations: - p.Cys313Tyr (Ensembl:ENST00000399577) - c.938G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2078989869 | 316 | C>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.7) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673649G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673649G>T Locations: - p.Cys316Phe (Ensembl:ENST00000399577) - c.947G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52153241 | 317 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4673652G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4673652G>T Locations: - p.Arg317Leu (cosmic curated:ENST00000399577) - c.950G>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274569 | 317 | R>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4673652G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4673652G>A Locations: - p.Arg317Gln (cosmic curated:ENST00000399577) - c.950G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1485279043 | 317 | R>W | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673651C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673651C>T Locations: - p.Arg317Trp (Ensembl:ENST00000399577) - c.949C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079078609 | 319 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677463C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677463C>G Locations: - p.Pro319Arg (Ensembl:ENST00000399577) - c.956C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs747795132 | 319 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.636) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4673657C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4673657C>T Locations: - p.Pro319Ser (Ensembl:ENST00000399577) - c.955C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs765351465 | 321 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.29) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677469G>C Codon: CGG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677469G>C Locations: - p.Arg321Pro (Ensembl:ENST00000399577) - c.962G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs765351465 | 321 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677469G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677469G>A Locations: - p.Arg321Gln (Ensembl:ENST00000399577) - c.962G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV105864455 rs761920721 | 321 | R>W | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4677468C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677468C>T Locations: - p.Arg321Trp (Ensembl:ENST00000399577) - c.961C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1469001183 | 323 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677474C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677474C>G Locations: - p.Leu323Val (Ensembl:ENST00000399577) - c.967C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1249070512 | 325 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.829) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677480C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677480C>G Locations: - p.Gln325Glu (Ensembl:ENST00000399577) - c.973C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs775510468 | 327 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677487G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677487G>A Locations: - p.Arg327Gln (Ensembl:ENST00000399577) - c.980G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52153132 rs1418934993 | 327 | R>W | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4677486C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677486C>T Locations: - p.Arg327Trp (Ensembl:ENST00000399577) - c.979C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs751936825 | 328 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677489G>C Codon: GCG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677489G>C Locations: - p.Ala328Pro (Ensembl:ENST00000399577) - c.982G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs751936825 | 328 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.473) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677489G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677489G>T Locations: - p.Ala328Ser (Ensembl:ENST00000399577) - c.982G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs751936825 | 328 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677489G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677489G>A Locations: - p.Ala328Thr (Ensembl:ENST00000399577) - c.982G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52151672 rs556808615 | 328 | A>V | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4677490C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677490C>T Locations: - p.Ala328Val (Ensembl:ENST00000399577) - c.983C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52150108 rs373355174 | 330 | R>Q | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4677496G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677496G>A Locations: - p.Arg330Gln (Ensembl:ENST00000399577) - c.989G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs200157628 | 330 | R>W | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000016.10:g.4677495C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677495C>T Locations: - p.Arg330Trp (Ensembl:ENST00000399577) - c.988C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
TCGA novel | 332 | K>missing | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: inframe deletion Somatic: No Accession: NC_000016.10:g.4677497_4677499del Consequence type: inframe deletion Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677497_4677499del Locations: - c.994_996del (NCI-TCGA:ENST00000399577) - p.K332del (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1394257875 | 332 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677503G>T Codon: AAG/AAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677503G>T Locations: - p.Lys332Asn (Ensembl:ENST00000399577) - c.996G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs771979496 | 333 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.712) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677505C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677505C>T Locations: - p.Pro333Leu (Ensembl:ENST00000399577) - c.998C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079079378 | 333 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.146) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4677504C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677504C>T Locations: - p.Pro333Ser (Ensembl:ENST00000399577) - c.997C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1352140271 | 334 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677507G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677507G>A Locations: - p.Gly334Arg (Ensembl:ENST00000399577) - c.1000G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs760512522 | 335 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4677510G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677510G>C Locations: - p.Ala335Pro (Ensembl:ENST00000399577) - c.1003G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs760512522 | 335 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.675) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677510G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677510G>T Locations: - p.Ala335Ser (Ensembl:ENST00000399577) - c.1003G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1429727957 | 335 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.8) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4677511C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677511C>T Locations: - p.Ala335Val (Ensembl:ENST00000399577) - c.1004C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1034798304 | 336 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677513C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677513C>G Locations: - p.Leu336Val (Ensembl:ENST00000399577) - c.1006C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079079748 | 337 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677517C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677517C>G Locations: - p.Ser337Cys (Ensembl:ENST00000399577) - c.1010C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079079748 | 337 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.908) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677517C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677517C>T Locations: - p.Ser337Phe (Ensembl:ENST00000399577) - c.1010C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079079748 | 337 | S>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677517C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677517C>A Locations: - p.Ser337Tyr (Ensembl:ENST00000399577) - c.1010C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1249626621 | 338 | P>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4677520C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677520C>A Locations: - p.Pro338His (Ensembl:ENST00000399577) - c.1013C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1249626621 | 338 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4677520C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677520C>T Locations: - p.Pro338Leu (Ensembl:ENST00000399577) - c.1013C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1223867269 | 338 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677519C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677519C>A Locations: - p.Pro338Thr (Ensembl:ENST00000399577) - c.1012C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
TCGA novel | 339 | V>C | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000016.10:g.4677517del Consequence type: frameshift Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677517del Locations: - c.1014del (NCI-TCGA:ENST00000399577) - p.V339Cfs*159 (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99273971 | 339 | V>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.185) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000016.10:g.4677523T>A Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677523T>A Locations: - p.V339E (NCI-TCGA:ENST00000399577) - p.Val339Glu (cosmic curated:ENST00000399577) - c.1016T>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs539120656 | 339 | V>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4677522G>C, NC_000016.10:g.4677522G>T Codon: GTG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677522G>C, NC_000016.10:g.4677522G>T Locations: - p.Val339Leu (Ensembl:ENST00000399577) - c.1015G>C (Ensembl:ENST00000399577) - c.1015G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs539120656 | 339 | V>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.371) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4677522G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677522G>A Locations: - p.Val339Met (Ensembl:ENST00000399577) - c.1015G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1474462110 | 340 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677526C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677526C>G Locations: - p.Ser340Cys (Ensembl:ENST00000399577) - c.1019C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1212594115 | 340 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677525T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677525T>C Locations: - p.Ser340Pro (Ensembl:ENST00000399577) - c.1018T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs763398541 | 341 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677530C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677530C>A Locations: - p.Phe341Leu (Ensembl:ENST00000399577) - c.1023C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs766947289 | 342 | S>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677532G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677532G>T Locations: - p.Ser342Ile (Ensembl:ENST00000399577) - c.1025G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs752094551 | 343 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677535C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677535C>G Locations: - p.Pro343Arg (Ensembl:ENST00000399577) - c.1028C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs889903311 | 343 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4677534C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677534C>T Locations: - p.Pro343Ser (Ensembl:ENST00000399577) - c.1027C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs767992365 | 344 | V>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677537G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677537G>T Locations: - p.Val344Phe (Ensembl:ENST00000399577) - c.1030G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52148671 rs767992365 | 344 | V>I | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4677537G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677537G>A Locations: - p.Val344Ile (Ensembl:ENST00000399577) - c.1030G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1372277099 | 345 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677540C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677540C>A Locations: - p.Leu345Met (Ensembl:ENST00000399577) - c.1033C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1311969982 | 346 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.707) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4677543G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677543G>A Locations: - p.Ala346Thr (Ensembl:ENST00000399577) - c.1036G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs753604222 | 346 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.824) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677544C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677544C>T Locations: - p.Ala346Val (Ensembl:ENST00000399577) - c.1037C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs2079080499 | 347 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677548G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677548G>T Locations: - p.Gln347His (Ensembl:ENST00000399577) - c.1041G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079080523 | 348 | S>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.59) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.4677550G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677550G>A Locations: - p.Ser348Asn (Ensembl:ENST00000399577) - c.1043G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079080586 | 350 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677555G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677555G>A Locations: - p.Glu350Lys (Ensembl:ENST00000399577) - c.1048G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52154482 | 350 | E>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4677555G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4677555G>C Locations: - p.Glu350Gln (cosmic curated:ENST00000399577) - c.1048G>C (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs778293287 | 351 | H>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677559A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677559A>T Locations: - p.His351Leu (Ensembl:ENST00000399577) - c.1052A>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs778293287 | 351 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4677559A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677559A>G Locations: - p.His351Arg (Ensembl:ENST00000399577) - c.1052A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1228220946 | 352 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677561G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677561G>C Locations: - p.Asp352His (Ensembl:ENST00000399577) - c.1054G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1326079214 | 353 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.77) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677564G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677564G>A Locations: - p.Glu353Lys (Ensembl:ENST00000399577) - c.1057G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1210622871 | 354 | H>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.762) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677568A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677568A>T Locations: - p.His354Leu (Ensembl:ENST00000399577) - c.1061A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1484956270 | 354 | H>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.417) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677567C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677567C>A Locations: - p.His354Asn (Ensembl:ENST00000399577) - c.1060C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs757822441 | 354 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.815) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4677569C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677569C>G Locations: - p.His354Gln (Ensembl:ENST00000399577) - c.1062C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1210622871 | 354 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.762) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4677568A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677568A>G Locations: - p.His354Arg (Ensembl:ENST00000399577) - c.1061A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV104575602 rs912000315 | 355 | S>F | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.909) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4677571C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4677571C>T Locations: - p.Ser355Phe (Ensembl:ENST00000399577) - c.1064C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
TCGA novel | 356 | C>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: - Somatic: No Accession: NC_000016.10:g.4680034T>C Consequence type: - Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680034T>C Locations: - c.1068T>C (NCI-TCGA:ENST00000399577) - p.C356= (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 356 | C>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.628) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.4680034T>G Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680034T>G Locations: - c.1068T>G (NCI-TCGA:ENST00000399577) - p.C356W (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV52153789 rs375770946 | 356 | C>Y | cosmic curated ESP | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.37) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4680033G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680033G>A Locations: - p.Cys356Tyr (Ensembl:ENST00000399577) - c.1067G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs774516010 | 357 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4680035C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680035C>G Locations: - p.Pro357Ala (Ensembl:ENST00000399577) - c.1069C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV105100638 rs199644481 | 357 | P>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.05) Somatic: Yes Accession: NC_000016.10:g.4680036C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680036C>T Locations: - p.Pro357Leu (Ensembl:ENST00000399577) - c.1070C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274451 rs774516010 | 357 | P>S | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: deleterious - low confidence (0.05) Somatic: Yes Accession: NC_000016.10:g.4680035C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680035C>T Locations: - p.Pro357Ser (Ensembl:ENST00000399577) - c.1069C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs774516010 | 357 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4680035C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680035C>A Locations: - p.Pro357Thr (Ensembl:ENST00000399577) - c.1069C>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs768100305 | 358 | F>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.352) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4680039T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680039T>C Locations: - p.Phe358Ser (Ensembl:ENST00000399577) - c.1073T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52154451 | 359 | K>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4680040-4680041>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4680040-4680041>T Locations: - p.Lys359Ter (cosmic curated:ENST00000399577) - c.1074dup (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
TCGA novel | 360 | K>N | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000016.10:g.4680041del Consequence type: frameshift Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680041del Locations: - c.1080del (NCI-TCGA:ENST00000399577) - p.K360Nfs*138 (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99274875 | 361 | S>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4680048C>G Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680048C>G Locations: - p.S361* (NCI-TCGA:ENST00000399577) - p.Ser361Ter (cosmic curated:ENST00000399577) - c.1082C>G (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs775740684 | 361 | S>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4680047T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680047T>G Locations: - p.Ser361Ala (Ensembl:ENST00000399577) - c.1081T>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1222428100 | 362 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.298) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4680050A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680050A>C Locations: - p.Lys362Gln (Ensembl:ENST00000399577) - c.1084A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs761140588 | 363 | P>A | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.9) Somatic: No Accession: NC_000016.10:g.4680053C>G Codon: CCG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680053C>G Locations: - p.Pro363Ala (Ensembl:ENST00000399577) - c.1087C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs368527662 | 363 | P>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.17) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4680054C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680054C>T Locations: - p.Pro363Leu (Ensembl:ENST00000399577) - c.1088C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs368527662 | 363 | P>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: tolerated - low confidence (0.05) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4680054C>G Codon: CCG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680054C>G Locations: - p.Pro363Arg (Ensembl:ENST00000399577) - c.1088C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs761140588 | 363 | P>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.4680053C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680053C>T Locations: - p.Pro363Ser (Ensembl:ENST00000399577) - c.1087C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1596314880 | 364 | H>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4680057A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680057A>C Locations: - p.His364Pro (Ensembl:ENST00000399577) - c.1091A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079143984 | 364 | H>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4680058C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680058C>A Locations: - p.His364Gln (Ensembl:ENST00000399577) - c.1092C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1596314880 | 364 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4680057A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680057A>G Locations: - p.His364Arg (Ensembl:ENST00000399577) - c.1091A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079143870 | 364 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4680056C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680056C>T Locations: - p.His364Tyr (Ensembl:ENST00000399577) - c.1090C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs372525104 | 366 | A>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4680062G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680062G>A Locations: - p.Ala366Thr (Ensembl:ENST00000399577) - c.1096G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1233895992 | 366 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000016.10:g.4680063C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680063C>T Locations: - p.Ala366Val (Ensembl:ENST00000399577) - c.1097C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52152817 | 367 | S>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4680065T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4680065T>G Locations: - p.Ser367Ala (cosmic curated:ENST00000399577) - c.1099T>G (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1596314891 | 368 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.651) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4680069T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680069T>C Locations: - p.Leu368Pro (Ensembl:ENST00000399577) - c.1103T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1596314891 | 368 | L>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4680069T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680069T>G Locations: - p.Leu368Arg (Ensembl:ENST00000399577) - c.1103T>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs752548668 | 369 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4680072C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680072C>G Locations: - p.Ala369Gly (Ensembl:ENST00000399577) - c.1106C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs372779477 | 369 | A>S | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000016.10:g.4680071G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680071G>T Locations: - p.Ala369Ser (Ensembl:ENST00000399577) - c.1105G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs752548668 | 369 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4680072C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680072C>T Locations: - p.Ala369Val (Ensembl:ENST00000399577) - c.1106C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs867880460 | 370 | S>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.451) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4680075G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680075G>T Locations: - p.Ser370Ile (Ensembl:ENST00000399577) - c.1109G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs752757705 | 370 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.529) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4680076C>A Codon: AGC/AGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680076C>A Locations: - p.Ser370Arg (Ensembl:ENST00000399577) - c.1110C>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV99274227 | 372 | K>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000016.10:g.4680081A>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680081A>T Locations: - p.K372I (NCI-TCGA:ENST00000399577) - p.Lys372Ile (cosmic curated:ENST00000399577) - c.1115A>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs749539082 | 372 | K>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.223) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4680080A>C Codon: AAA/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680080A>C Locations: - p.Lys372Gln (Ensembl:ENST00000399577) - c.1114A>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1461014728 | 373 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.274) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4680083C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680083C>G Locations: - p.Pro373Ala (Ensembl:ENST00000399577) - c.1117C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2141971852 | 373 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.567) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4680084C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680084C>G Locations: - p.Pro373Arg (Ensembl:ENST00000399577) - c.1118C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs771211469 | 374 | K>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.167) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4680086A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680086A>G Locations: - p.Lys374Glu (Ensembl:ENST00000399577) - c.1120A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52147954 | 375 | R>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4680090G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4680090G>A Locations: - p.Arg375Lys (cosmic curated:ENST00000399577) - c.1124G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs779167204 | 375 | R>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4680091G>T Codon: AGG/AGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680091G>T Locations: - p.Arg375Ser (Ensembl:ENST00000399577) - c.1125G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1352135066 | 375 | R>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.056) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4680090G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4680090G>C Locations: - p.Arg375Thr (Ensembl:ENST00000399577) - c.1124G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1396942798 | 378 | N>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681551A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681551A>T Locations: - p.Asn378Ile (Ensembl:ENST00000399577) - c.1133A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1334459450 | 379 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.582) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681554C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681554C>G Locations: - p.Ser379Cys (Ensembl:ENST00000399577) - c.1136C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52149800 | 380 | D>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4681555-4681556>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4681555-4681556>T Locations: - p.Asp380Ter (cosmic curated:ENST00000399577) - c.1137dup (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1248523136 | 380 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4681558C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681558C>G Locations: - p.Asp380Glu (Ensembl:ENST00000399577) - c.1140C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1186087113 | 380 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681556G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681556G>C Locations: - p.Asp380His (Ensembl:ENST00000399577) - c.1138G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV107273431 | 381 | S>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4681560G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4681560G>A Locations: - p.Ser381Asn (cosmic curated:ENST00000399577) - c.1142G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs774059320 | 381 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4681560G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681560G>C Locations: - p.Ser381Thr (Ensembl:ENST00000399577) - c.1142G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs759179884 | 382 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.4681562G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681562G>A Locations: - p.Val382Ile (Ensembl:ENST00000399577) - c.1144G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs967815207 | 383 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681565C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681565C>T Locations: - p.Pro383Ser (Ensembl:ENST00000399577) - c.1147C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs967815207 | 383 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681565C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681565C>A Locations: - p.Pro383Thr (Ensembl:ENST00000399577) - c.1147C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52151025 | 384 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000016.10:g.4681569C>A Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681569C>A Locations: - p.P384H (NCI-TCGA:ENST00000399577) - p.Pro384His (cosmic curated:ENST00000399577) - c.1151C>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1567235459 | 384 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4681568C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681568C>T Locations: - p.Pro384Ser (Ensembl:ENST00000399577) - c.1150C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs369202298 | 387 | E>K | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681577G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681577G>A Locations: - p.Glu387Lys (Ensembl:ENST00000399577) - c.1159G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs369202298 | 387 | E>Q | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681577G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681577G>C Locations: - p.Glu387Gln (Ensembl:ENST00000399577) - c.1159G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV104575645 | 389 | I>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4681584T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4681584T>A Locations: - p.Ile389Asn (cosmic curated:ENST00000399577) - c.1166T>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1281036439 | 389 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4681583A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681583A>G Locations: - p.Ile389Val (Ensembl:ENST00000399577) - c.1165A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs765108738 | 390 | S>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681587C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681587C>T Locations: - p.Ser390Leu (Ensembl:ENST00000399577) - c.1169C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1248791454 | 392 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681592C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681592C>T Locations: - p.Leu392Phe (Ensembl:ENST00000399577) - c.1174C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs747007916 | 393 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681595G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681595G>A Locations: - p.Glu393Lys (Ensembl:ENST00000399577) - c.1177G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs747007916 | 393 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4681595G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681595G>C Locations: - p.Glu393Gln (Ensembl:ENST00000399577) - c.1177G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV105100624 | 394 | A>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4681599C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4681599C>G Locations: - p.Ala394Gly (cosmic curated:ENST00000399577) - c.1181C>G (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52150934 rs781691243 | 394 | A>V | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4681599C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681599C>T Locations: - p.Ala394Val (Ensembl:ENST00000399577) - c.1181C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs375493247 | 395 | L>I | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681601C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681601C>A Locations: - p.Leu395Ile (Ensembl:ENST00000399577) - c.1183C>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs375493247 | 395 | L>V | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681601C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681601C>G Locations: - p.Leu395Val (Ensembl:ENST00000399577) - c.1183C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs377648839 | 396 | N>I | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681605A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681605A>T Locations: - p.Asn396Ile (Ensembl:ENST00000399577) - c.1187A>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs377648839 | 396 | N>S | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681605A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681605A>G Locations: - p.Asn396Ser (Ensembl:ENST00000399577) - c.1187A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs760154211 | 397 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681608G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681608G>A Locations: - p.Gly397Asp (Ensembl:ENST00000399577) - c.1190G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1175527160 | 398 | L>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.828) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681611T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681611T>G Locations: - p.Leu398Arg (Ensembl:ENST00000399577) - c.1193T>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274439 | 399 | R>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4681614G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4681614G>T Locations: - p.Arg399Leu (cosmic curated:ENST00000399577) - c.1196G>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52154888 rs1301184346 | 399 | R>Q | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000016.10:g.4681614G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681614G>A Locations: - p.Arg399Gln (Ensembl:ENST00000399577) - c.1196G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52150335 rs776765858 | 399 | R>W | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4681613C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681613C>T Locations: - p.Arg399Trp (Ensembl:ENST00000399577) - c.1195C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1330406029 | 400 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.202) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681617C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681617C>T Locations: - p.Ala400Val (Ensembl:ENST00000399577) - c.1199C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1375855652 | 401 | V>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.229) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681619G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681619G>T Locations: - p.Val401Phe (Ensembl:ENST00000399577) - c.1201G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1375855652 | 401 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000016.10:g.4681619G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681619G>A Locations: - p.Val401Ile (Ensembl:ENST00000399577) - c.1201G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52149639 | 402 | S>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4681623C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4681623C>G Locations: - p.Ser402Cys (cosmic curated:ENST00000399577) - c.1205C>G (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52150320 rs1205621590 | 402 | S>F | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4681623C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681623C>T Locations: - p.Ser402Phe (Ensembl:ENST00000399577) - c.1205C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52147972 rs765127125 | 403 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00001208 (gnomAD) Accession: NC_000016.10:g.4681626C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681626C>T Locations: - p.P403L (NCI-TCGA:ENST00000399577) - p.Pro403Leu (Ensembl:ENST00000399577) - c.1208C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs2079184462 | 404 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.219) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000016.10:g.4681628G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681628G>A Locations: - p.Ala404Thr (Ensembl:ENST00000399577) - c.1210G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079184498 | 404 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.284) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4681629C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681629C>T Locations: - p.Ala404Val (Ensembl:ENST00000399577) - c.1211C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1208421635 | 405 | I>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.309) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4681633C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681633C>G Locations: - p.Ile405Met (Ensembl:ENST00000399577) - c.1215C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079184552 | 405 | I>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.544) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681632T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681632T>A Locations: - p.Ile405Asn (Ensembl:ENST00000399577) - c.1214T>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079184552 | 405 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681632T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681632T>C Locations: - p.Ile405Thr (Ensembl:ENST00000399577) - c.1214T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079184528 | 405 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000016.10:g.4681631A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681631A>G Locations: - p.Ile405Val (Ensembl:ENST00000399577) - c.1213A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1268971058 | 406 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681634C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681634C>G Locations: - p.Pro406Ala (Ensembl:ENST00000399577) - c.1216C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52152413 | 406 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4681634C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4681634C>T Locations: - p.Pro406Ser (cosmic curated:ENST00000399577) - c.1216C>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274472 | 407 | S>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4681638C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4681638C>A Locations: - p.Ser407Ter (cosmic curated:ENST00000399577) - c.1220C>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99273706 COSV99274472 rs766556602 | 407 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.296) - SIFT: deleterious (0.01) - PolyPhen: benign (0.292) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.000008051 (gnomAD) Accession: NC_000016.10:g.4681638C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681638C>T Locations: - p.S407L (NCI-TCGA:ENST00000399577) - p.Ser407Leu (Ensembl:ENST00000399577) - c.1220C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs368781016 | 409 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681644C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681644C>T Locations: - p.Pro409Leu (Ensembl:ENST00000399577) - c.1226C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1312678411 | 409 | P>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681643C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681643C>A Locations: - p.Pro409Thr (Ensembl:ENST00000399577) - c.1225C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs990631309 | 410 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681646C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681646C>T Locations: - p.Leu410Phe (Ensembl:ENST00000399577) - c.1228C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs990631309 | 410 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4681646C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681646C>G Locations: - p.Leu410Val (Ensembl:ENST00000399577) - c.1228C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs755083140 | 411 | Y>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681649T>G Codon: TAT/GAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681649T>G Locations: - p.Tyr411Asp (Ensembl:ENST00000399577) - c.1231T>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs755083140 | 411 | Y>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4681649T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681649T>C Locations: - p.Tyr411His (Ensembl:ENST00000399577) - c.1231T>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV99275091 | 412 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.496) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000016.10:g.4681652G>A Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681652G>A Locations: - p.E412K (NCI-TCGA:ENST00000399577) - p.Glu412Lys (cosmic curated:ENST00000399577) - c.1234G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs748671364 | 413 | E>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.77) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681656A>C Codon: GAA/GCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681656A>C Locations: - p.Glu413Ala (Ensembl:ENST00000399577) - c.1238A>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52151860 | 413 | E>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4681655G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4681655G>C Locations: - p.Glu413Gln (cosmic curated:ENST00000399577) - c.1237G>C (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs748671364 | 413 | E>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681656A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681656A>T Locations: - p.Glu413Val (Ensembl:ENST00000399577) - c.1238A>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52150394 | 414 | I>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4681660C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4681660C>G Locations: - p.Ile414Met (cosmic curated:ENST00000399577) - c.1242C>G (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs778141817 | 415 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.531) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681662C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681662C>T Locations: - p.Thr415Ile (Ensembl:ENST00000399577) - c.1244C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1596316625 | 415 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000016.10:g.4681661A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681661A>C Locations: - p.Thr415Pro (Ensembl:ENST00000399577) - c.1243A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs778141817 | 415 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated - low confidence (0.54) Somatic: No Accession: NC_000016.10:g.4681662C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681662C>G Locations: - p.Thr415Ser (Ensembl:ENST00000399577) - c.1244C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1458384985 | 416 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681664T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681664T>C Locations: - p.Tyr416His (Ensembl:ENST00000399577) - c.1246T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1323231425 | 417 | S>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4681667T>G Codon: TCA/GCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681667T>G Locations: - p.Ser417Ala (Ensembl:ENST00000399577) - c.1249T>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs749568005 | 417 | S>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.228) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681668C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681668C>T Locations: - p.Ser417Leu (Ensembl:ENST00000399577) - c.1250C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52149209 | 417 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.557) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000016.10:g.4681667T>C Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681667T>C Locations: - p.S417P (NCI-TCGA:ENST00000399577) - p.Ser417Pro (cosmic curated:ENST00000399577) - c.1249T>C (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1323231425 | 417 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000016.10:g.4681667T>A Codon: TCA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681667T>A Locations: - p.Ser417Thr (Ensembl:ENST00000399577) - c.1249T>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs200775202 | 418 | G>A | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.03) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4681671G>C Codon: GGC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681671G>C Locations: - p.Gly418Ala (Ensembl:ENST00000399577) - c.1253G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs200775202 | 418 | G>D | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4681671G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681671G>A Locations: - p.Gly418Asp (Ensembl:ENST00000399577) - c.1253G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1303317417 | 419 | I>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000016.10:g.4681673A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681673A>C Locations: - p.Ile419Leu (Ensembl:ENST00000399577) - c.1255A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs775047103 | 419 | I>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.255) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681674T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681674T>A Locations: - p.Ile419Asn (Ensembl:ENST00000399577) - c.1256T>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1303317417 | 419 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.4681673A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681673A>G Locations: - p.Ile419Val (Ensembl:ENST00000399577) - c.1255A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs768292858 | 420 | S>* | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.4681677C>A Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681677C>A Locations: - p.Ser420Ter (Ensembl:ENST00000399577) - c.1259C>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs768292858 | 420 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.24) - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.11) Somatic: No Population frequencies: - MAF: 0.00003221 (gnomAD) Accession: NC_000016.10:g.4681677C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681677C>T Locations: - p.S420L (NCI-TCGA:ENST00000399577) - p.Ser420Leu (Ensembl:ENST00000399577) - c.1259C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs367993354 | 421 | D>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.4681681C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681681C>A Locations: - p.Asp421Glu (Ensembl:ENST00000399577) - c.1263C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2141976671 | 421 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.321) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4681680A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681680A>G Locations: - p.Asp421Gly (Ensembl:ENST00000399577) - c.1262A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs761873418 | 421 | D>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.807) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681679G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681679G>C Locations: - p.Asp421His (Ensembl:ENST00000399577) - c.1261G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52151953 | 422 | G>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4681683G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4681683G>A Locations: - p.Gly422Asp (cosmic curated:ENST00000399577) - c.1265G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs200303018 | 422 | G>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4681682G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681682G>C Locations: - p.Gly422Arg (Ensembl:ENST00000399577) - c.1264G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs200303018 | 422 | G>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.086) - SIFT: tolerated - low confidence (0.11) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4681682G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681682G>A Locations: - p.Gly422Ser (Ensembl:ENST00000399577) - c.1264G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1212193279 | 423 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.158) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000016.10:g.4681685C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681685C>A Locations: - p.Leu423Met (Ensembl:ENST00000399577) - c.1267C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1212193279 | 423 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4681685C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681685C>G Locations: - p.Leu423Val (Ensembl:ENST00000399577) - c.1267C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs985103801 | 424 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.498) - SIFT: deleterious (0.05) - PolyPhen: possibly damaging (0.509) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4681689C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681689C>T Locations: - p.S424F (NCI-TCGA:ENST00000399577) - p.Ser424Phe (Ensembl:ENST00000399577) - c.1271C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274809 rs752737830 | 425 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC dbSNP | |||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4681691C>T Codon: CAG/TAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681691C>T Locations: - p.Q425* (NCI-TCGA:ENST00000399577) - p.Gln425Ter (Ensembl:ENST00000399577) - c.1273C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs752737830 | 425 | Q>E | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.105) - SIFT: tolerated - low confidence (0.65) Somatic: No Accession: NC_000016.10:g.4681691C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681691C>G Locations: - p.Gln425Glu (Ensembl:ENST00000399577) - c.1273C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs371660308 | 425 | Q>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.558) - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000016.10:g.4681693G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681693G>C Locations: - p.Gln425His (Ensembl:ENST00000399577) - c.1275G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs756636262 | 425 | Q>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.42) Somatic: No Accession: NC_000016.10:g.4681692A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681692A>T Locations: - p.Gln425Leu (Ensembl:ENST00000399577) - c.1274A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs756636262 | 425 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.198) - SIFT: tolerated - low confidence (0.7) Somatic: No Accession: NC_000016.10:g.4681692A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681692A>G Locations: - p.Gln425Arg (Ensembl:ENST00000399577) - c.1274A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs754339979 | 426 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.231) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4681695C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681695C>T Locations: - p.Ala426Val (Ensembl:ENST00000399577) - c.1277C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1162247260 | 427 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.513) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681697A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681697A>T Locations: - p.Ser427Cys (Ensembl:ENST00000399577) - c.1279A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
TCGA novel | 428 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000016.10:g.4681701G>A Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681701G>A Locations: - c.1283G>A (NCI-TCGA:ENST00000399577) - p.C428Y (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs375064408 | 429 | P>A | 1000Genomes ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.567) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4681703C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681703C>G Locations: - p.Pro429Ala (Ensembl:ENST00000399577) - c.1285C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV105100505 | 429 | P>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4681703-4681704CC>TT Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4681703-4681704CC>TT Locations: - p.Pro429Phe (cosmic curated:ENST00000399577) - c.1285_1286delinsTT (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52150566 rs2079186095 | 429 | P>L | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4681704C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681704C>T Locations: - p.Pro429Leu (Ensembl:ENST00000399577) - c.1286C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs375064408 | 429 | P>S | 1000Genomes ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.751) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4681703C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681703C>T Locations: - p.Pro429Ser (Ensembl:ENST00000399577) - c.1285C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1367458058 | 430 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681706C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681706C>T Locations: - p.Leu430Phe (Ensembl:ENST00000399577) - c.1288C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1367458058 | 430 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.704) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4681706C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681706C>G Locations: - p.Leu430Val (Ensembl:ENST00000399577) - c.1288C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs755361053 | 431 | A>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4681710C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681710C>A Locations: - p.Ala431Glu (Ensembl:ENST00000399577) - c.1292C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs746644216 | 431 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.43) Somatic: No Accession: NC_000016.10:g.4681709G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681709G>T Locations: - p.Ala431Ser (Ensembl:ENST00000399577) - c.1291G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs746644216 | 431 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.4681709G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681709G>A Locations: - p.Ala431Thr (Ensembl:ENST00000399577) - c.1291G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs755361053 | 431 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.7) Somatic: No Accession: NC_000016.10:g.4681710C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681710C>T Locations: - p.Ala431Val (Ensembl:ENST00000399577) - c.1292C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52152959 | 432 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000016.10:g.4681713C>A Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681713C>A Locations: - p.A432D (NCI-TCGA:ENST00000399577) - p.Ala432Asp (cosmic curated:ENST00000399577) - c.1295C>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52148381 | 432 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4681712G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4681712G>A Locations: - p.Ala432Thr (cosmic curated:ENST00000399577) - c.1294G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1381982983 | 433 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated - low confidence (0.72) Somatic: No Accession: NC_000016.10:g.4681715A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681715A>G Locations: - p.Ile433Val (Ensembl:ENST00000399577) - c.1297A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1352079898 | 434 | D>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.122) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681719A>C Codon: GAC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681719A>C Locations: - p.Asp434Ala (Ensembl:ENST00000399577) - c.1301A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1352079898 | 434 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.175) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.4681719A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681719A>G Locations: - p.Asp434Gly (Ensembl:ENST00000399577) - c.1301A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1308339200 | 434 | D>N | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.175) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681718G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681718G>A Locations: - p.Asp434Asn (Ensembl:ENST00000399577) - c.1300G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52152891 | 435 | H>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4681722A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4681722A>G Locations: - p.His435Arg (cosmic curated:ENST00000399577) - c.1304A>G (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1312240877 | 435 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.13) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681721C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681721C>T Locations: - p.His435Tyr (Ensembl:ENST00000399577) - c.1303C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs575952569 | 436 | I>N | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000016.10:g.4681725T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681725T>A Locations: - p.Ile436Asn (Ensembl:ENST00000399577) - c.1307T>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs575952569 | 436 | I>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.08) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000016.10:g.4681725T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681725T>C Locations: - p.Ile436Thr (Ensembl:ENST00000399577) - c.1307T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1231257679 | 436 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.73) Somatic: No Accession: NC_000016.10:g.4681724A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681724A>G Locations: - p.Ile436Val (Ensembl:ENST00000399577) - c.1306A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs372204809 | 437 | L>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.52) Somatic: No Accession: NC_000016.10:g.4681727C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681727C>G Locations: - p.Leu437Val (Ensembl:ENST00000399577) - c.1309C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52153647 | 438 | D>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4681732C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4681732C>G Locations: - p.Asp438Glu (cosmic curated:ENST00000399577) - c.1314C>G (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs767678287 | 438 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.807) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681730G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681730G>C Locations: - p.Asp438His (Ensembl:ENST00000399577) - c.1312G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99275096 rs767678287 | 438 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.86) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00002859 (gnomAD) Accession: NC_000016.10:g.4681730G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681730G>T Locations: - p.D438Y (NCI-TCGA:ENST00000399577) - p.Asp438Tyr (Ensembl:ENST00000399577) - c.1312G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1254492018 | 439 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681734G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681734G>T Locations: - p.Ser439Ile (Ensembl:ENST00000399577) - c.1316G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52151149 | 439 | S>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4681734G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4681734G>A Locations: - p.Ser439Asn (cosmic curated:ENST00000399577) - c.1316G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
TCGA novel | 440 | S>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000016.10:g.4681736A>G Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681736A>G Locations: - c.1318A>G (NCI-TCGA:ENST00000399577) - p.S440G (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2079186854 | 440 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4681737G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681737G>A Locations: - p.Ser440Asn (Ensembl:ENST00000399577) - c.1319G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs760784736 | 441 | R>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.322) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4681739C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681739C>T Locations: - p.Arg441Cys (Ensembl:ENST00000399577) - c.1321C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52149140 rs764157399 | 441 | R>H | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: Yes Accession: NC_000016.10:g.4681740G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681740G>A Locations: - p.Arg441His (Ensembl:ENST00000399577) - c.1322G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs764157399 | 441 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.46) Somatic: No Accession: NC_000016.10:g.4681740G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681740G>T Locations: - p.Arg441Leu (Ensembl:ENST00000399577) - c.1322G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1194330242 | 442 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681743A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681743A>G Locations: - p.Gln442Arg (Ensembl:ENST00000399577) - c.1325A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1255026517 | 443 | K>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681746A>C Codon: AAG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681746A>C Locations: - p.Lys443Thr (Ensembl:ENST00000399577) - c.1328A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs754311885 | 444 | G>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4681748G>T Codon: GGC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681748G>T Locations: - p.Gly444Cys (Ensembl:ENST00000399577) - c.1330G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs779175061 | 444 | G>D | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.503) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681749G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681749G>A Locations: - p.Gly444Asp (Ensembl:ENST00000399577) - c.1331G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs754311885 | 444 | G>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000016.10:g.4681748G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681748G>A Locations: - p.Gly444Ser (Ensembl:ENST00000399577) - c.1330G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1429090630 | 445 | R>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681751A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681751A>G Locations: - p.Arg445Gly (Ensembl:ENST00000399577) - c.1333A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1169134282 | 445 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.4681752G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681752G>A Locations: - p.Arg445Lys (Ensembl:ENST00000399577) - c.1334G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1169134282 | 445 | R>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681752G>C Codon: AGG/ACG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681752G>C Locations: - p.Arg445Thr (Ensembl:ENST00000399577) - c.1334G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs758808663 | 446 | P>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.4681755C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681755C>T Locations: - p.Pro446Leu (Ensembl:ENST00000399577) - c.1337C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs750750096 | 446 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.4681754C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681754C>T Locations: - p.Pro446Ser (Ensembl:ENST00000399577) - c.1336C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs747794897 | 447 | Q>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000016.10:g.4681759G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681759G>C Locations: - p.Gln447His (Ensembl:ENST00000399577) - c.1341G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1415187236 | 448 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4681760A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681760A>G Locations: - p.Ser448Gly (Ensembl:ENST00000399577) - c.1342A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs769483930 | 448 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.191) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4681761G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681761G>C Locations: - p.Ser448Thr (Ensembl:ENST00000399577) - c.1343G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV99274517 COSV106088891 | 449 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.694) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000016.10:g.4681765G>T, NC_000016.10:g.4681765G>C Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681765G>T, NC_000016.10:g.4681765G>C Locations: - p.K449N (NCI-TCGA:ENST00000399577) - p.Lys449Asn (cosmic curated:ENST00000399577) - c.1347G>T (cosmic curated:ENST00000399577) - c.1347G>C (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1398303735 | 450 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681766G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681766G>C Locations: - p.Ala450Pro (Ensembl:ENST00000399577) - c.1348G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1364534177 | 451 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.13) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4681769C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681769C>A Locations: - p.Pro451Thr (Ensembl:ENST00000399577) - c.1351C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs573242927 | 452 | D>N | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4681772G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681772G>A Locations: - p.Asp452Asn (Ensembl:ENST00000399577) - c.1354G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
TCGA novel | 452 | D>T | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000016.10:g.4681767del Consequence type: frameshift Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681767del Locations: - c.1353del (NCI-TCGA:ENST00000399577) - p.D452Tfs*46 (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs573242927 | 452 | D>Y | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4681772G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4681772G>T Locations: - p.Asp452Tyr (Ensembl:ENST00000399577) - c.1354G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs745820631 | 454 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.909) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682825C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682825C>T Locations: - p.Thr454Ile (Ensembl:ENST00000399577) - c.1361C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1228484950 | 454 | T>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.869) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682824A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682824A>C Locations: - p.Thr454Pro (Ensembl:ENST00000399577) - c.1360A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1228484950 | 454 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4682824A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682824A>T Locations: - p.Thr454Ser (Ensembl:ENST00000399577) - c.1360A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs779842959 | 455 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.858) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682828T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682828T>C Locations: - p.Leu455Pro (Ensembl:ENST00000399577) - c.1364T>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs371114422 | 456 | R>L | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4682831G>T Codon: CGG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682831G>T Locations: - p.Arg456Leu (Ensembl:ENST00000399577) - c.1367G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52153930 rs371114422 | 456 | R>Q | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.801) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4682831G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682831G>A Locations: - p.Arg456Gln (Ensembl:ENST00000399577) - c.1367G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs200301873 | 456 | R>W | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.000588697 (1000Genomes) Accession: NC_000016.10:g.4682830C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682830C>T Locations: - p.Arg456Trp (Ensembl:ENST00000399577) - c.1366C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs373213729 | 458 | P>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682837C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682837C>T Locations: - p.Pro458Leu (Ensembl:ENST00000399577) - c.1373C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV99273667 rs373213729 | 458 | P>Q | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4682837C>A Codon: CCG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682837C>A Locations: - p.Pro458Gln (Ensembl:ENST00000399577) - c.1373C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs769929319 | 458 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4682836C>T Codon: CCG/TCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682836C>T Locations: - p.Pro458Ser (Ensembl:ENST00000399577) - c.1372C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274395 | 459 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4682840C>A Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682840C>A Locations: - p.S459Y (NCI-TCGA:ENST00000399577) - p.Ser459Tyr (cosmic curated:ENST00000399577) - c.1376C>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1411767909 | 460 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682843C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682843C>G Locations: - p.Ser460Cys (Ensembl:ENST00000399577) - c.1379C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV104575594 | 460 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4682843C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4682843C>T Locations: - p.Ser460Phe (cosmic curated:ENST00000399577) - c.1379C>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs774977834 | 461 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682845C>G Codon: CCC/GCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682845C>G Locations: - p.Pro461Ala (Ensembl:ENST00000399577) - c.1381C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs759989890 | 461 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682846C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682846C>T Locations: - p.Pro461Leu (Ensembl:ENST00000399577) - c.1382C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs759989890 | 461 | P>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682846C>G Codon: CCC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682846C>G Locations: - p.Pro461Arg (Ensembl:ENST00000399577) - c.1382C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52150300 | 461 | P>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4682845C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4682845C>T Locations: - p.Pro461Ser (cosmic curated:ENST00000399577) - c.1381C>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs766433794 | 463 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated - low confidence (0.38) Somatic: No Accession: NC_000016.10:g.4682853C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682853C>A Locations: - p.His463Gln (Ensembl:ENST00000399577) - c.1389C>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1307747233 | 463 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.4682852A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682852A>G Locations: - p.His463Arg (Ensembl:ENST00000399577) - c.1388A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079219574 | 463 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.607) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682851C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682851C>T Locations: - p.His463Tyr (Ensembl:ENST00000399577) - c.1387C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1410122994 | 464 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682854G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682854G>A Locations: - p.Glu464Lys (Ensembl:ENST00000399577) - c.1390G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52155206 rs1596317969 | 465 | E>K | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4682857G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682857G>A Locations: - p.Glu465Lys (Ensembl:ENST00000399577) - c.1393G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52149765 COSV99274830 | 466 | D>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: tolerated - low confidence (0.27) Somatic: Yes Accession: NC_000016.10:g.4682862T>G Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682862T>G Locations: - p.D466E (NCI-TCGA:ENST00000399577) - p.Asp466Glu (cosmic curated:ENST00000399577) - c.1398T>G (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1353709603 | 466 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682860G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682860G>A Locations: - p.Asp466Asn (Ensembl:ENST00000399577) - c.1396G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079219789 | 466 | D>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682861A>T Codon: GAT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682861A>T Locations: - p.Asp466Val (Ensembl:ENST00000399577) - c.1397A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52151543 rs1227200107 | 467 | E>K | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4682863G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682863G>A Locations: - p.Glu467Lys (Ensembl:ENST00000399577) - c.1399G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs749883461 | 468 | E>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.355) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4682867A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682867A>C Locations: - p.Glu468Ala (Ensembl:ENST00000399577) - c.1403A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1261910180 | 468 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4682866G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682866G>C Locations: - p.Glu468Gln (Ensembl:ENST00000399577) - c.1402G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1202783949 | 469 | K>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.726) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682869A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682869A>C Locations: - p.Lys469Gln (Ensembl:ENST00000399577) - c.1405A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079220023 | 469 | K>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4682870A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682870A>G Locations: - p.Lys469Arg (Ensembl:ENST00000399577) - c.1406A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs780002446 | 470 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.567) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682872C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682872C>G Locations: - p.Leu470Val (Ensembl:ENST00000399577) - c.1408C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs543055292 | 471 | S>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682876C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682876C>G Locations: - p.Ser471Cys (Ensembl:ENST00000399577) - c.1412C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV105100480 | 471 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4682876C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4682876C>T Locations: - p.Ser471Phe (cosmic curated:ENST00000399577) - c.1412C>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99074831 rs543055292 | 471 | S>Y | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4682876C>A Codon: TCC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682876C>A Locations: - p.Ser471Tyr (Ensembl:ENST00000399577) - c.1412C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs748405058 | 472 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.25) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682878G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682878G>A Locations: - p.Glu472Lys (Ensembl:ENST00000399577) - c.1414G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs2079220356 | 473 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.255) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4682881G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682881G>A Locations: - p.Asp473Asn (Ensembl:ENST00000399577) - c.1417G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1022742105 | 473 | D>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000016.10:g.4682882A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682882A>T Locations: - p.Asp473Val (Ensembl:ENST00000399577) - c.1418A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52149711 rs367720160 | 474 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: deleterious - low confidence (0.02) - PolyPhen: benign (0.074) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000016.10:g.4682884G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682884G>A Locations: - p.V474M (NCI-TCGA:ENST00000399577) - p.Val474Met (Ensembl:ENST00000399577) - c.1420G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs2079220527 | 475 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.516) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682888A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682888A>G Locations: - p.Asp475Gly (Ensembl:ENST00000399577) - c.1424A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1002578311 | 475 | D>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.909) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682887G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682887G>T Locations: - p.Asp475Tyr (Ensembl:ENST00000399577) - c.1423G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs771103294 | 476 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4682890G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682890G>A Locations: - p.Ala476Thr (Ensembl:ENST00000399577) - c.1426G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs759950236 | 477 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000016.10:g.4682893C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682893C>G Locations: - p.Pro477Ala (Ensembl:ENST00000399577) - c.1429C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1338296668 | 477 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000016.10:g.4682894C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682894C>T Locations: - p.Pro477Leu (Ensembl:ENST00000399577) - c.1430C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079220823 | 478 | P>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.69) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4682897C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682897C>A Locations: - p.Pro478His (Ensembl:ENST00000399577) - c.1433C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52149039 rs138756308 | 478 | P>S | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.199) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000016.10:g.4682896C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682896C>T Locations: - p.Pro478Ser (Ensembl:ENST00000399577) - c.1432C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs138756308 | 478 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.261) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682896C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682896C>A Locations: - p.Pro478Thr (Ensembl:ENST00000399577) - c.1432C>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs762512282 | 479 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000016.10:g.4682900C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682900C>T Locations: - p.Pro479Leu (Ensembl:ENST00000399577) - c.1436C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs762512282 | 479 | P>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000016.10:g.4682900C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682900C>A Locations: - p.Pro479Gln (Ensembl:ENST00000399577) - c.1436C>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs765557279 | 479 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated - low confidence (0.33) Somatic: No Accession: NC_000016.10:g.4682899C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682899C>T Locations: - p.Pro479Ser (Ensembl:ENST00000399577) - c.1435C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs765557279 | 479 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000016.10:g.4682899C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682899C>A Locations: - p.Pro479Thr (Ensembl:ENST00000399577) - c.1435C>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs926929169 | 480 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.16) Somatic: No Accession: NC_000016.10:g.4682903T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682903T>C Locations: - p.Leu480Pro (Ensembl:ENST00000399577) - c.1439T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs926929169 | 480 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.229) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4682903T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682903T>G Locations: - p.Leu480Arg (Ensembl:ENST00000399577) - c.1439T>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs557117092 | 480 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4682902C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682902C>G Locations: - p.Leu480Val (Ensembl:ENST00000399577) - c.1438C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs374058293 | 481 | G>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000016.10:g.4682906G>C Codon: GGT/GCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682906G>C Locations: - p.Gly481Ala (Ensembl:ENST00000399577) - c.1442G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52152922 | 481 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4682905G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4682905G>C Locations: - p.Gly481Arg (cosmic curated:ENST00000399577) - c.1441G>C (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52152941 rs372370813 | 483 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.34) - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.11) Somatic: Yes Population frequencies: - MAF: 0.00007873 (gnomAD) Accession: NC_000016.10:g.4682911G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682911G>A Locations: - p.A483T (NCI-TCGA:ENST00000399577) - p.Ala483Thr (Ensembl:ENST00000399577) - c.1447G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs2141980160 | 484 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000016.10:g.4682915A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682915A>G Locations: - p.Glu484Gly (Ensembl:ENST00000399577) - c.1451A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs562584538 | 484 | E>K | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.255) - SIFT: deleterious - low confidence (0.05) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000016.10:g.4682914G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682914G>A Locations: - p.Glu484Lys (Ensembl:ENST00000399577) - c.1450G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs562584538 | 484 | E>Q | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.4) - SIFT: tolerated - low confidence (0.08) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000016.10:g.4682914G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682914G>C Locations: - p.Glu484Gln (Ensembl:ENST00000399577) - c.1450G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs368814602 | 485 | L>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.093) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4682917C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682917C>A Locations: - p.Leu485Met (Ensembl:ENST00000399577) - c.1453C>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs779081314 | 486 | A>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4682921C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682921C>A Locations: - p.Ala486Asp (Ensembl:ENST00000399577) - c.1457C>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV99274963 | 486 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.17) Somatic: Yes Accession: NC_000016.10:g.4682920G>A Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682920G>A Locations: - p.A486T (NCI-TCGA:ENST00000399577) - p.Ala486Thr (cosmic curated:ENST00000399577) - c.1456G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV99274212 | 487 | L>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4682923C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4682923C>A Locations: - p.Leu487Met (cosmic curated:ENST00000399577) - c.1459C>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1195730629 | 487 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.731) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4682924T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682924T>C Locations: - p.Leu487Pro (Ensembl:ENST00000399577) - c.1460T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs772407632 | 488 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4682926C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682926C>G Locations: - p.Arg488Gly (Ensembl:ENST00000399577) - c.1462C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52148097 rs372306366 | 488 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.49) - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.14) Somatic: Yes Population frequencies: - MAF: 0.000004311 (gnomAD) Accession: NC_000016.10:g.4682927G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682927G>A Locations: - p.R488Q (NCI-TCGA:ENST00000399577) - p.Arg488Gln (Ensembl:ENST00000399577) - c.1463G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52148457 rs772407632 | 488 | R>W | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.609) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4682926C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682926C>T Locations: - p.Arg488Trp (Ensembl:ENST00000399577) - c.1462C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs768999864 | 489 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.238) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4682929G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682929G>A Locations: - p.Glu489Lys (Ensembl:ENST00000399577) - c.1465G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs772907432 | 490 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.214) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4682932A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682932A>G Locations: - p.Ser490Gly (Ensembl:ENST00000399577) - c.1468A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52154677 rs762534468 | 492 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.794) - SIFT: deleterious - low confidence (0.01) - PolyPhen: possibly damaging (0.801) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Population frequencies: - MAF: 0.00002286 (gnomAD) Accession: NC_000016.10:g.4682939C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682939C>T Locations: - p.S492F (NCI-TCGA:ENST00000399577) - p.Ser492Phe (Ensembl:ENST00000399577) - c.1475C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1407715198 | 493 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.567) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682941C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682941C>G Locations: - p.Pro493Ala (Ensembl:ENST00000399577) - c.1477C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs765876734 | 493 | P>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.898) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4682942C>G Codon: CCT/CGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682942C>G Locations: - p.Pro493Arg (Ensembl:ENST00000399577) - c.1478C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1407715198 COSV52151456 | 493 | P>S | gnomAD cosmic curated | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.646) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000016.10:g.4682941C>T, NC_000016.10:g.4682940-4682941CC>TT Codon: CCT/TCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4682941C>T, NC_000016.10:g.4682940-4682941CC>TT Locations: - p.Pro493Ser (Ensembl:ENST00000399577) - c.1477C>T (Ensembl:ENST00000399577) - p.Pro493Ser (cosmic curated:ENST00000399577) - c.1476_1477delinsTT (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52151553 | 494 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4682944G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4682944G>A Locations: - p.Glu494Lys (cosmic curated:ENST00000399577) - c.1480G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1242643047 | 495 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000016.10:g.4683224A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683224A>G Locations: - p.Ser495Gly (Ensembl:ENST00000399577) - c.1483A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1425578370 | 495 | S>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.157) - SIFT: deleterious - low confidence (0) - PolyPhen: benign (0.163) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4683224A>C, NC_000016.10:g.4683226T>G Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683224A>C, NC_000016.10:g.4683226T>G Locations: - c.1483A>C (NCI-TCGA:ENST00000399577) - p.S495R (NCI-TCGA:ENST00000399577) - p.Ser495Arg (Ensembl:ENST00000399577) - c.1485T>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs373606722 | 495 | S>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4683225G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683225G>C Locations: - p.Ser495Thr (Ensembl:ENST00000399577) - c.1484G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1357594001 | 496 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000016.10:g.4683229C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683229C>G Locations: - p.Phe496Leu (Ensembl:ENST00000399577) - c.1488C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs761764935 | 497 | I>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000016.10:g.4683231T>A Codon: ATA/AAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683231T>A Locations: - p.Ile497Lys (Ensembl:ENST00000399577) - c.1490T>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs771456202 | 497 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.28) Somatic: No Accession: NC_000016.10:g.4683230A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683230A>G Locations: - p.Ile497Val (Ensembl:ENST00000399577) - c.1489A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52151437 | 499 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4683236G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4683236G>A Locations: - p.Glu499Lys (cosmic curated:ENST00000399577) - c.1495G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs763167820 | 500 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.21) Somatic: No Accession: NC_000016.10:g.4683241G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683241G>C Locations: - p.Glu500Asp (Ensembl:ENST00000399577) - c.1500G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs750620578 | 500 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4683239G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683239G>A Locations: - p.Glu500Lys (Ensembl:ENST00000399577) - c.1498G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs766400763 | 501 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.31) Somatic: No Accession: NC_000016.10:g.4683242G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683242G>A Locations: - p.Val501Ile (Ensembl:ENST00000399577) - c.1501G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs919971280 | 502 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.4683247T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683247T>G Locations: - p.Asp502Glu (Ensembl:ENST00000399577) - c.1506T>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs774738232 | 502 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.188) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4683245G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683245G>C Locations: - p.Asp502His (Ensembl:ENST00000399577) - c.1504G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs774738232 | 502 | D>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.176) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4683245G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683245G>T Locations: - p.Asp502Tyr (Ensembl:ENST00000399577) - c.1504G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079229865 | 503 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.4683248G>T Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683248G>T Locations: - p.Glu503Ter (Ensembl:ENST00000399577) - c.1507G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079229900 | 503 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4683249A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683249A>C Locations: - p.Glu503Ala (Ensembl:ENST00000399577) - c.1508A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV105100585 | 503 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4683248G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4683248G>A Locations: - p.Glu503Lys (cosmic curated:ENST00000399577) - c.1507G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV108055818 | 503 | E>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4683249A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4683249A>T Locations: - p.Glu503Val (cosmic curated:ENST00000399577) - c.1508A>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs61734739 | 504 | S>* | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.0060832 (1000Genomes) Accession: NC_000016.10:g.4683252C>A Codon: TCG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683252C>A Locations: - p.Ser504Ter (Ensembl:ENST00000399577) - c.1511C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs751588335 | 504 | S>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.4683251T>G Codon: TCG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683251T>G Locations: - p.Ser504Ala (Ensembl:ENST00000399577) - c.1510T>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs61734739 | 504 | S>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Population frequencies: - MAF: 0.0060832 (1000Genomes) Accession: NC_000016.10:g.4683252C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683252C>T Locations: - p.Ser504Leu (Ensembl:ENST00000399577) - c.1511C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV105864402 rs756494425 | 505 | S>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.23) Somatic: Yes Accession: NC_000016.10:g.4683255C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683255C>T Locations: - p.Ser505Leu (Ensembl:ENST00000399577) - c.1514C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
TCGA novel | 505 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.24) Somatic: No Accession: NC_000016.10:g.4683254T>C Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683254T>C Locations: - c.1513T>C (NCI-TCGA:ENST00000399577) - p.S505P (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs745766700 | 506 | S>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.152) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000016.10:g.4683258C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683258C>T Locations: - p.Ser506Leu (Ensembl:ENST00000399577) - c.1517C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs371375348 | 507 | P>A | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated - low confidence (0.53) Somatic: No Accession: NC_000016.10:g.4683260C>G Codon: CCA/GCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683260C>G Locations: - p.Pro507Ala (Ensembl:ENST00000399577) - c.1519C>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1373181526 | 507 | P>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.255) - SIFT: tolerated - low confidence (0.34) Somatic: No Accession: NC_000016.10:g.4683261C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683261C>A Locations: - p.Pro507Gln (Ensembl:ENST00000399577) - c.1520C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs371375348 | 507 | P>S | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated - low confidence (0.41) Somatic: No Accession: NC_000016.10:g.4683260C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683260C>T Locations: - p.Pro507Ser (Ensembl:ENST00000399577) - c.1519C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs2141981064 | 508 | Q>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.97) Somatic: No Accession: NC_000016.10:g.4683263C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683263C>A Locations: - p.Gln508Lys (Ensembl:ENST00000399577) - c.1522C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1428846220 | 508 | Q>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4683264A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683264A>T Locations: - p.Gln508Leu (Ensembl:ENST00000399577) - c.1523A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1428846220 | 508 | Q>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4683264A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683264A>C Locations: - p.Gln508Pro (Ensembl:ENST00000399577) - c.1523A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs779736879 | 509 | Q>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4683267A>T Codon: CAA/CTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683267A>T Locations: - p.Gln509Leu (Ensembl:ENST00000399577) - c.1526A>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV99274985 | 510 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.22) Somatic: Yes Accession: NC_000016.10:g.4683843G>A Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683843G>A Locations: - p.G510E (NCI-TCGA:ENST00000399577) - p.Gly510Glu (cosmic curated:ENST00000399577) - c.1529G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1265765378 | 510 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.296) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4683843G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683843G>T Locations: - p.Gly510Val (Ensembl:ENST00000399577) - c.1529G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1010733425 | 511 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4683846C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683846C>T Locations: - p.Thr511Ile (Ensembl:ENST00000399577) - c.1532C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1010733425 | 511 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.4683846C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683846C>A Locations: - p.Thr511Asn (Ensembl:ENST00000399577) - c.1532C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1596319191 | 511 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4683845A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683845A>C Locations: - p.Thr511Pro (Ensembl:ENST00000399577) - c.1531A>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52149117 rs199984936 | 512 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000008141 (gnomAD) Accession: NC_000016.10:g.4683848C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683848C>T Locations: - p.R512* (NCI-TCGA:ENST00000399577) - p.Arg512Ter (Ensembl:ENST00000399577) - c.1534C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs199984936 | 512 | R>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4683848C>G Codon: CGA/GGA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683848C>G Locations: - p.Arg512Gly (Ensembl:ENST00000399577) - c.1534C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs372499842 | 512 | R>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4683849G>T Codon: CGA/CTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683849G>T Locations: - p.Arg512Leu (Ensembl:ENST00000399577) - c.1535G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52149668 rs372499842 | 512 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.27) - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.09) Somatic: Yes Population frequencies: - MAF: 0.00003659 (gnomAD) Accession: NC_000016.10:g.4683849G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683849G>A Locations: - p.R512Q (NCI-TCGA:ENST00000399577) - p.Arg512Gln (Ensembl:ENST00000399577) - c.1535G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1269886880 | 514 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4683855C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683855C>T Locations: - p.Ala514Val (Ensembl:ENST00000399577) - c.1541C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs754636969 | 516 | I>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.175) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4683860A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683860A>T Locations: - p.Ile516Phe (Ensembl:ENST00000399577) - c.1546A>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs754636969 | 516 | I>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.19) Somatic: No Accession: NC_000016.10:g.4683860A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683860A>C Locations: - p.Ile516Leu (Ensembl:ENST00000399577) - c.1546A>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs780871722 | 516 | I>T | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.4683861T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683861T>C Locations: - p.Ile516Thr (Ensembl:ENST00000399577) - c.1547T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs754636969 | 516 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.4683860A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683860A>G Locations: - p.Ile516Val (Ensembl:ENST00000399577) - c.1546A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs755545957 | 517 | E>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4683864A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683864A>C Locations: - p.Glu517Ala (Ensembl:ENST00000399577) - c.1550A>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs777834956 | 517 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000016.10:g.4683865G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683865G>C Locations: - p.Glu517Asp (Ensembl:ENST00000399577) - c.1551G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs747740375 | 517 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4683863G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683863G>A Locations: - p.Glu517Lys (Ensembl:ENST00000399577) - c.1549G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs749170599 | 518 | N>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.4683866A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683866A>G Locations: - p.Asn518Asp (Ensembl:ENST00000399577) - c.1552A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs770725695 | 518 | N>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.199) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4683867A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683867A>T Locations: - p.Asn518Ile (Ensembl:ENST00000399577) - c.1553A>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs749170599 | 518 | N>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.337) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4683866A>T Codon: AAT/TAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683866A>T Locations: - p.Asn518Tyr (Ensembl:ENST00000399577) - c.1552A>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs2079246483 | 520 | L>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4683872C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683872C>A Locations: - p.Leu520Met (Ensembl:ENST00000399577) - c.1558C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs775805573 | 521 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.4683875C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683875C>T Locations: - p.Gln521Ter (Ensembl:ENST00000399577) - c.1561C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52148470 | 521 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.736) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4683877G>T Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683877G>T Locations: - p.Q521H (NCI-TCGA:ENST00000399577) - p.Gln521His (cosmic curated:ENST00000399577) - c.1563G>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2141982795 | 522 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.706) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4683879A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683879A>G Locations: - p.Asp522Gly (Ensembl:ENST00000399577) - c.1565A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1302476598 | 523 | S>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000016.10:g.4683881A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683881A>G Locations: - p.Ser523Gly (Ensembl:ENST00000399577) - c.1567A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52148395 | 523 | S>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4683882G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4683882G>A Locations: - p.Ser523Asn (cosmic curated:ENST00000399577) - c.1568G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs746124260 | 524 | S>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000016.10:g.4683884A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683884A>G Locations: - p.Ser524Gly (Ensembl:ENST00000399577) - c.1570A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1447085042 | 524 | S>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4683886C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683886C>G Locations: - p.Ser524Arg (Ensembl:ENST00000399577) - c.1572C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1372006912 | 524 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4683885G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683885G>C Locations: - p.Ser524Thr (Ensembl:ENST00000399577) - c.1571G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079246814 | 525 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000016.10:g.4683888C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683888C>T Locations: - p.Pro525Leu (Ensembl:ENST00000399577) - c.1574C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52154256 rs537387885 | 526 | E>K | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.25) - SIFT: deleterious - low confidence (0.01) Somatic: Yes Accession: NC_000016.10:g.4683890G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683890G>A Locations: - p.Glu526Lys (Ensembl:ENST00000399577) - c.1576G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
TCGA novel | 527 | H>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4683893C>G Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683893C>G Locations: - c.1579C>G (NCI-TCGA:ENST00000399577) - p.H527D (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1158663971 | 527 | H>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000016.10:g.4683894A>T Codon: CAC/CTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683894A>T Locations: - p.His527Leu (Ensembl:ENST00000399577) - c.1580A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs2079247061 | 527 | H>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000016.10:g.4683895C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683895C>G Locations: - p.His527Gln (Ensembl:ENST00000399577) - c.1581C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1008850017 | 527 | H>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.236) - SIFT: tolerated - low confidence (0.1) Somatic: No Accession: NC_000016.10:g.4683893C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683893C>T Locations: - p.His527Tyr (Ensembl:ENST00000399577) - c.1579C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs556955597 | 528 | C>G | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4683896T>G Codon: TGT/GGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683896T>G Locations: - p.Cys528Gly (Ensembl:ENST00000399577) - c.1582T>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs556955597 | 528 | C>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000016.10:g.4683896T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683896T>C Locations: - p.Cys528Arg (Ensembl:ENST00000399577) - c.1582T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1596319262 | 528 | C>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.39) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4683898T>G Codon: TGT/TGG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683898T>G Locations: - p.Cys528Trp (Ensembl:ENST00000399577) - c.1584T>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52155095 | 528 | C>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4683897G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4683897G>A Locations: - p.Cys528Tyr (cosmic curated:ENST00000399577) - c.1583G>A (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs768602227 | 529 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.053) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4683900G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683900G>A Locations: - p.Gly529Asp (Ensembl:ENST00000399577) - c.1586G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs376204675 | 530 | R>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.4683902C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683902C>T Locations: - p.Arg530Ter (Ensembl:ENST00000399577) - c.1588C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52154923 rs762339568 | 530 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: tolerated - low confidence (0.56) - PolyPhen: benign (0.047) - SIFT: tolerated - low confidence (0.14) Somatic: Yes Population frequencies: - MAF: 0.00002463 (gnomAD) Accession: NC_000016.10:g.4683903G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683903G>A Locations: - p.R530Q (NCI-TCGA:ENST00000399577) - p.Arg530Gln (Ensembl:ENST00000399577) - c.1589G>A (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs961945136 | 532 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4683909C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683909C>T Locations: - p.Pro532Leu (Ensembl:ENST00000399577) - c.1595C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs765725146 | 533 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.17) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4683912C>T Codon: CCT/CTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683912C>T Locations: - p.Pro533Leu (Ensembl:ENST00000399577) - c.1598C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1470573086 | 533 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4683911C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683911C>T Locations: - p.Pro533Ser (Ensembl:ENST00000399577) - c.1597C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs763387198 | 534 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000016.10:g.4683915C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683915C>G Locations: - p.Ala534Gly (Ensembl:ENST00000399577) - c.1601C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs750767327 | 534 | A>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.273) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4683914G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683914G>C Locations: - p.Ala534Pro (Ensembl:ENST00000399577) - c.1600G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1164738429 | 535 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000016.10:g.4683919C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683919C>A Locations: - p.Asp535Glu (Ensembl:ENST00000399577) - c.1605C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52150949 | 535 | D>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4683917G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4683917G>T Locations: - p.Asp535Tyr (cosmic curated:ENST00000399577) - c.1603G>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs972314165 | 536 | I>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4683920A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683920A>T Locations: - p.Ile536Phe (Ensembl:ENST00000399577) - c.1606A>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs767317059 | 537 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000016.10:g.4683924A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683924A>G Locations: - p.Tyr537Cys (Ensembl:ENST00000399577) - c.1610A>G (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs1239551080 | 537 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.537) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000016.10:g.4683923T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683923T>C Locations: - p.Tyr537His (Ensembl:ENST00000399577) - c.1609T>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs767317059 | 537 | Y>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000016.10:g.4683924A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683924A>C Locations: - p.Tyr537Ser (Ensembl:ENST00000399577) - c.1610A>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs777091179 | 538 | L>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.102) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4683927T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4683927T>C Locations: - p.Leu538Pro (Ensembl:ENST00000399577) - c.1613T>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
TCGA novel | 540 | A>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: - Somatic: No Accession: NC_000016.10:g.4686260C>T Consequence type: - Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4686260C>T Locations: - c.1620C>T (NCI-TCGA:ENST00000399577) - p.A540= (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 541 | L>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: - Somatic: No Accession: NC_000016.10:g.4686261C>T Consequence type: - Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4686261C>T Locations: - c.1621C>T (NCI-TCGA:ENST00000399577) - p.L541= (NCI-TCGA:ENST00000399577) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV52153712 | 542 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.4686265G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000016.10:g.4686265G>T Locations: - p.Gly542Val (cosmic curated:ENST00000399577) - c.1625G>T (cosmic curated:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs778865472 | 543 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4686267C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4686267C>T Locations: - p.Pro543Ser (Ensembl:ENST00000399577) - c.1627C>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs750360029 | 544 | D>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.509) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4686270G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4686270G>C Locations: - p.Asp544His (Ensembl:ENST00000399577) - c.1630G>C (Ensembl:ENST00000399577) Source type: large scale study | |||||||
COSV52149536 rs750360029 | 544 | D>N | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000016.10:g.4686270G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4686270G>A Locations: - p.Asp544Asn (Ensembl:ENST00000399577) - c.1630G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs901868895 | 547 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4686280C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4686280C>G Locations: - p.Ser547Cys (Ensembl:ENST00000399577) - c.1640C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs901868895 | 547 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4686280C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4686280C>T Locations: - p.Ser547Phe (Ensembl:ENST00000399577) - c.1640C>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs901868895 | 547 | S>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4686280C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4686280C>A Locations: - p.Ser547Tyr (Ensembl:ENST00000399577) - c.1640C>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1430848012 | 548 | V>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.048) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4686282G>T Codon: GTT/TTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4686282G>T Locations: - p.Val548Phe (Ensembl:ENST00000399577) - c.1642G>T (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1157957045 | 549 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.88) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4686285G>C Codon: GGT/CGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4686285G>C Locations: - p.Gly549Arg (Ensembl:ENST00000399577) - c.1645G>C (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1157957045 | 549 | G>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.652) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000016.10:g.4686285G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4686285G>A Locations: - p.Gly549Ser (Ensembl:ENST00000399577) - c.1645G>A (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV52147857 rs974048165 | 549 | G>V | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.739) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000016.10:g.4686286G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4686286G>T Locations: - p.Gly549Val (Ensembl:ENST00000399577) - c.1646G>T (Ensembl:ENST00000399577) Source type: large scale study | |||||||
rs2141989035 | 550 | I>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated - low confidence (0.22) Somatic: No Accession: NC_000016.10:g.4686290A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4686290A>G Locations: - p.Ile550Met (Ensembl:ENST00000399577) - c.1650A>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
COSV106088898 rs576156541 | 551 | D>E | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: Yes Accession: NC_000016.10:g.4686293C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4686293C>G Locations: - p.Asp551Glu (Ensembl:ENST00000399577) - c.1653C>G (Ensembl:ENST00000399577) Source type: large scale study Cross-references: | |||||||
rs1405824309 TCGA novel | 552 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed gnomAD NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious - low confidence (0.01) - PolyPhen: probably damaging (0.984) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000016.10:g.4686296G>T, NC_000016.10:g.4686296G>C Codon: GAG/GAT Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4686296G>T, NC_000016.10:g.4686296G>C Locations: - p.Glu552Asp (Ensembl:ENST00000399577) - c.1656G>T (Ensembl:ENST00000399577) - c.1656G>C (NCI-TCGA:ENST00000399577) - p.E552D (NCI-TCGA:ENST00000399577) Source type: large scale study | |||||||
rs201936360 | 552 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000016.10:g.4686294G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16p13.3 Genomic location: NC_000016.10:g.4686294G>A Locations: - p.Glu552Lys (Ensembl:ENST00000399577) - c.1654G>A (Ensembl:ENST00000399577) Source type: large scale study |