P59534 · T2R39_HUMAN
- ProteinTaste receptor type 2 member 39
- GeneTAS2R39
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids338 (go to sequence)
- Protein existenceEvidence at transcript level
- Annotation score4/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs200380921 | 2 | L>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.906) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00137363 (1000Genomes) Accession: NC_000007.14:g.143183423T>C Codon: CTA/CCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183423T>C Locations: - p.Leu2Pro (Ensembl:ENST00000446620) - c.5T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs200380921 | 2 | L>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.906) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00137363 (1000Genomes) Accession: NC_000007.14:g.143183423T>G Codon: CTA/CGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183423T>G Locations: - p.Leu2Arg (Ensembl:ENST00000446620) - c.5T>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs201054558 | 4 | R>S | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: deleterious - low confidence (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143183430A>C Codon: AGA/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183430A>C Locations: - p.Arg4Ser (Ensembl:ENST00000446620) - c.12A>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1280122913 | 5 | C>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.32) Somatic: No Accession: NC_000007.14:g.143183431T>A Codon: TGT/AGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183431T>A Locations: - p.Cys5Ser (Ensembl:ENST00000446620) - c.13T>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1339139245 | 6 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.494) - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000007.14:g.143183434T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183434T>C Locations: - p.Phe6Leu (Ensembl:ENST00000446620) - c.16T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1480902699 | 7 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000007.14:g.143183437C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183437C>A Locations: - p.Pro7Thr (Ensembl:ENST00000446620) - c.19C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1426332381 | 8 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000007.14:g.143183441C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183441C>T Locations: - p.Pro8Leu (Ensembl:ENST00000446620) - c.23C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1382489987 | 9 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.42) Somatic: No Accession: NC_000007.14:g.143183445C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183445C>A Locations: - p.Asp9Glu (Ensembl:ENST00000446620) - c.27C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs755742322 | 9 | D>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000007.14:g.143183444A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183444A>G Locations: - p.Asp9Gly (Ensembl:ENST00000446620) - c.26A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs765968671 | 10 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000007.14:g.143183446A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183446A>G Locations: - p.Thr10Ala (Ensembl:ENST00000446620) - c.28A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs765968671 | 10 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.58) Somatic: No Accession: NC_000007.14:g.143183446A>T Codon: ACC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183446A>T Locations: - p.Thr10Ser (Ensembl:ENST00000446620) - c.28A>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799808094 | 11 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.35) Somatic: No Accession: NC_000007.14:g.143183450A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183450A>G Locations: - p.Lys11Arg (Ensembl:ENST00000446620) - c.32A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel | 12 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000007.14:g.143183454G>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183454G>T Locations: - c.36G>T (NCI-TCGA:ENST00000446620) - p.E12D (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1586387746 | 14 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000007.14:g.143183459A>C Codon: CAA/CCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183459A>C Locations: - p.Gln14Pro (Ensembl:ENST00000446620) - c.41A>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs202070447 | 15 | Q>* | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143183461C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183461C>T Locations: - p.Gln15Ter (Ensembl:ENST00000446620) - c.43C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1199091072 | 15 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.866) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.143183463G>C, NC_000007.14:g.143183463G>T Codon: CAG/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183463G>C, NC_000007.14:g.143183463G>T Locations: - p.Gln15His (Ensembl:ENST00000446620) - c.45G>C (Ensembl:ENST00000446620) - c.45G>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs202070447 | 15 | Q>K | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.55) - SIFT: tolerated (0.51) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143183461C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183461C>A Locations: - p.Gln15Lys (Ensembl:ENST00000446620) - c.43C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799808238 | 15 | Q>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.811) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.143183462A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183462A>C Locations: - p.Gln15Pro (Ensembl:ENST00000446620) - c.44A>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1276072298 | 17 | R>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143183467A>T Codon: AGA/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183467A>T Locations: - p.Arg17Ter (Ensembl:ENST00000446620) - c.49A>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs754446260 | 17 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000007.14:g.143183468G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183468G>A Locations: - p.Arg17Lys (Ensembl:ENST00000446620) - c.50G>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs779303865 | 18 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.833) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143183472G>A, NC_000007.14:g.143183472G>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183472G>A, NC_000007.14:g.143183472G>T Locations: - p.Met18Ile (Ensembl:ENST00000446620) - c.54G>A (Ensembl:ENST00000446620) - c.54G>T (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1268806551 | 19 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.143183474C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183474C>T Locations: - p.Thr19Ile (Ensembl:ENST00000446620) - c.56C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1264752414 | 21 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.73) Somatic: No Accession: NC_000007.14:g.143183479C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183479C>T Locations: - p.Leu21Phe (Ensembl:ENST00000446620) - c.61C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799808486 | 21 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000007.14:g.143183480T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183480T>C Locations: - p.Leu21Pro (Ensembl:ENST00000446620) - c.62T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1476541104 | 22 | C>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143183484C>A Codon: TGC/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183484C>A Locations: - p.Cys22Ter (Ensembl:ENST00000446620) - c.66C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1453748450 | 22 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.16) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.143183482T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183482T>C Locations: - p.Cys22Arg (Ensembl:ENST00000446620) - c.64T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV101489422 COSV71470920 rs748678979 | 23 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.67) - PolyPhen: benign (0.003) - SIFT: tolerated (0.82) Somatic: No Population frequencies: - MAF: 0.00000804 (gnomAD) Accession: NC_000007.14:g.143183485G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183485G>A Locations: - p.D23N (NCI-TCGA:ENST00000446620) - p.Asp23Asn (Ensembl:ENST00000446620) - c.67G>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs758904805 | 24 | P>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000007.14:g.143183488C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183488C>T Locations: - p.Pro24Ser (Ensembl:ENST00000446620) - c.70C>T (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs758904805 | 24 | P>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000007.14:g.143183488C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183488C>A Locations: - p.Pro24Thr (Ensembl:ENST00000446620) - c.70C>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs778257441 | 25 | A>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.143183492C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183492C>A Locations: - p.Ala25Glu (Ensembl:ENST00000446620) - c.74C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1478887790 | 25 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143183491G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183491G>A Locations: - p.Ala25Thr (Ensembl:ENST00000446620) - c.73G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs778257441 | 25 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.143183492C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183492C>T Locations: - p.Ala25Val (Ensembl:ENST00000446620) - c.74C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1375098016 | 26 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143183494G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183494G>T Locations: - p.Glu26Ter (Ensembl:ENST00000446620) - c.76G>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1420500641 | 26 | E>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.283) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.143183495A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183495A>G Locations: - p.Glu26Gly (Ensembl:ENST00000446620) - c.77A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1375098016 | 26 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.143183494G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183494G>A Locations: - p.Glu26Lys (Ensembl:ENST00000446620) - c.76G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs771307375 | 29 | L>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143183504T>A Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183504T>A Locations: - p.Leu29Ter (Ensembl:ENST00000446620) - c.86T>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470805 rs570396081 | 30 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.29) - PolyPhen: benign (0.033) - SIFT: tolerated (0.09) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000007.14:g.143183507C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183507C>T Locations: - p.S30L (NCI-TCGA:ENST00000446620) - p.Ser30Leu (Ensembl:ENST00000446620) - c.89C>T (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1333269364 | 32 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000007.14:g.143183512T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183512T>C Locations: - p.Phe32Leu (Ensembl:ENST00000446620) - c.94T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799809172 | 33 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.379) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000007.14:g.143183516T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183516T>C Locations: - p.Leu33Pro (Ensembl:ENST00000446620) - c.98T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel | 33 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000007.14:g.143183515C>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183515C>G Locations: - c.97C>G (NCI-TCGA:ENST00000446620) - p.L33V (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs769902858 | 34 | I>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.143183518A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183518A>C Locations: - p.Ile34Leu (Ensembl:ENST00000446620) - c.100A>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs538675994 | 36 | L>* | 1000Genomes ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143183525T>G Codon: TTA/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183525T>G Locations: - p.Leu36Ter (Ensembl:ENST00000446620) - c.107T>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1324508150 | 38 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000007.14:g.143183532A>C Codon: TTA/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183532A>C Locations: - p.Leu38Phe (Ensembl:ENST00000446620) - c.114A>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs963666488 | 38 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.581) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143183530T>G Codon: TTA/GTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183530T>G Locations: - p.Leu38Val (Ensembl:ENST00000446620) - c.112T>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1203967775 | 42 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143183542C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183542C>G Locations: - p.Leu42Val (Ensembl:ENST00000446620) - c.124C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs371821631 | 43 | A>T | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143183545G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183545G>A Locations: - p.Ala43Thr (Ensembl:ENST00000446620) - c.127G>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
COSV71470972 rs963789238 | 44 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183548G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183548G>A Locations: - p.E44K (NCI-TCGA:ENST00000446620) - p.Glu44Lys (Ensembl:ENST00000446620) - c.130G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs989936421 | 45 | Y>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143183553C>A Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183553C>A Locations: - p.Tyr45Ter (Ensembl:ENST00000446620) - c.135C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs760424629 | 45 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.662) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143183551T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183551T>C Locations: - p.Tyr45His (Ensembl:ENST00000446620) - c.133T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs993728030 | 46 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143183554C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183554C>T Locations: - p.Leu46Phe (Ensembl:ENST00000446620) - c.136C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs374774683 | 46 | L>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.682) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183555T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183555T>G Locations: - p.Leu46Arg (Ensembl:ENST00000446620) - c.137T>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs993728030 | 46 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000007.14:g.143183554C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183554C>G Locations: - p.Leu46Val (Ensembl:ENST00000446620) - c.136C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799809848 | 47 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000007.14:g.143183558T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183558T>C Locations: - p.Ile47Thr (Ensembl:ENST00000446620) - c.140T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs753475182 | 47 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000007.14:g.143183557A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183557A>G Locations: - p.Ile47Val (Ensembl:ENST00000446620) - c.139A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs556933546 | 48 | G>A | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143183561G>C Codon: GGT/GCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183561G>C Locations: - p.Gly48Ala (Ensembl:ENST00000446620) - c.143G>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs556933546 | 48 | G>D | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143183561G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183561G>A Locations: - p.Gly48Asp (Ensembl:ENST00000446620) - c.143G>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs764803062 | 49 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143183564T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183564T>C Locations: - p.Ile49Thr (Ensembl:ENST00000446620) - c.146T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs753302196 | 50 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.143183567T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183567T>C Locations: - p.Ile50Thr (Ensembl:ENST00000446620) - c.149T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470976 | 51 | A>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.924) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000007.14:g.143183570C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183570C>A Locations: - c.152C>A (NCI-TCGA:ENST00000446620) - p.A51E (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470837 | 55 | I>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000007.14:g.143183582T>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183582T>G Locations: - c.164T>G (NCI-TCGA:ENST00000446620) - p.I55S (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs758991626 | 56 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143183585T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183585T>C Locations: - p.Met56Thr (Ensembl:ENST00000446620) - c.167T>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
COSV71470806 | 57 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000007.14:g.143183587G>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183587G>A Locations: - c.169G>A (NCI-TCGA:ENST00000446620) - p.A57T (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel | 58 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.886) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143183592A>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183592A>G Locations: - c.174A>G (NCI-TCGA:ENST00000446620) - p.I58M (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1242760618 | 58 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143183591T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183591T>C Locations: - p.Ile58Thr (Ensembl:ENST00000446620) - c.173T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs778380511 | 59 | H>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.482) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143183594A>C Codon: CAT/CCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183594A>C Locations: - p.His59Pro (Ensembl:ENST00000446620) - c.176A>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs778380511 | 59 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.23) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143183594A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183594A>G Locations: - p.His59Arg (Ensembl:ENST00000446620) - c.176A>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs749720500 | 60 | A>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143183597C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183597C>G Locations: - p.Ala60Gly (Ensembl:ENST00000446620) - c.179C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799810257 | 60 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000007.14:g.143183596G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183596G>A Locations: - p.Ala60Thr (Ensembl:ENST00000446620) - c.178G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs751973927 | 61 | A>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.167) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000007.14:g.143183599G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183599G>A Locations: - p.Ala61Thr (Ensembl:ENST00000446620) - c.181G>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs954706607 | 62 | E>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143183602G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183602G>T Locations: - p.Glu62Ter (Ensembl:ENST00000446620) - c.184G>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1265471306 | 63 | W>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.098) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183607G>C, NC_000007.14:g.143183607G>T Codon: TGG/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183607G>C, NC_000007.14:g.143183607G>T Locations: - p.Trp63Cys (Ensembl:ENST00000446620) - c.189G>C (Ensembl:ENST00000446620) - c.189G>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799810582 | 66 | N>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.805) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143183615A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183615A>T Locations: - p.Asn66Ile (Ensembl:ENST00000446620) - c.197A>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs757635686 | 66 | N>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143183614A>T Codon: AAT/TAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183614A>T Locations: - p.Asn66Tyr (Ensembl:ENST00000446620) - c.196A>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs767785500 | 67 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143183619G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183619G>C Locations: - p.Lys67Asn (Ensembl:ENST00000446620) - c.201G>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1479274606 | 68 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000007.14:g.143183620G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183620G>A Locations: - p.Ala68Thr (Ensembl:ENST00000446620) - c.202G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1252284385 | 69 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.422) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143183624T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183624T>C Locations: - p.Val69Ala (Ensembl:ENST00000446620) - c.206T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1371756262 | 70 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143183627C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183627C>G Locations: - p.Ser70Cys (Ensembl:ENST00000446620) - c.209C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs987977586 | 71 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.143183630C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183630C>T Locations: - p.Thr71Ile (Ensembl:ENST00000446620) - c.212C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel | 71 | T>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.828) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143183630C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183630C>A Locations: - c.212C>A (NCI-TCGA:ENST00000446620) - p.T71K (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs987977586 | 71 | T>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143183630C>G Codon: ACA/AGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183630C>G Locations: - p.Thr71Arg (Ensembl:ENST00000446620) - c.212C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs781325206 | 72 | S>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000007.14:g.143183632A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183632A>G Locations: - p.Ser72Gly (Ensembl:ENST00000446620) - c.214A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1447870685 | 74 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000007.14:g.143183638A>G Codon: AGG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183638A>G Locations: - p.Arg74Gly (Ensembl:ENST00000446620) - c.220A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs188839863 | 75 | I>M | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143183643C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183643C>G Locations: - p.Ile75Met (Ensembl:ENST00000446620) - c.225C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs746097032 | 75 | I>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183642T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183642T>A Locations: - p.Ile75Asn (Ensembl:ENST00000446620) - c.224T>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1586387884 | 75 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.241) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143183641A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183641A>G Locations: - p.Ile75Val (Ensembl:ENST00000446620) - c.223A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799811060 | 76 | L>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.656) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143183644C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183644C>G Locations: - p.Leu76Val (Ensembl:ENST00000446620) - c.226C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1586387897 | 77 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.293) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183648T>G Codon: GTT/GGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183648T>G Locations: - p.Val77Gly (Ensembl:ENST00000446620) - c.230T>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470909 | 77 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.41) Somatic: Yes Accession: NC_000007.14:g.143183647G>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183647G>A Locations: - c.229G>A (NCI-TCGA:ENST00000446620) - p.V77I (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799811211 | 79 | L>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183654T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183654T>G Locations: - p.Leu79Arg (Ensembl:ENST00000446620) - c.236T>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs749318088 | 81 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000007.14:g.143183659G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183659G>A Locations: - p.Val81Ile (Ensembl:ENST00000446620) - c.241G>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs749318088 | 81 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000007.14:g.143183659G>T, NC_000007.14:g.143183659G>C Codon: GTA/TTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183659G>T, NC_000007.14:g.143183659G>C Locations: - p.Val81Leu (Ensembl:ENST00000446620) - c.241G>T (Ensembl:ENST00000446620) - c.241G>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs543065000 | 83 | R>K | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143183666G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183666G>A Locations: - p.Arg83Lys (Ensembl:ENST00000446620) - c.248G>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs543065000 | 83 | R>T | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143183666G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183666G>C Locations: - p.Arg83Thr (Ensembl:ENST00000446620) - c.248G>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1164912285 | 84 | I>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183669T>G Codon: ATA/AGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183669T>G Locations: - p.Ile84Arg (Ensembl:ENST00000446620) - c.251T>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV101489395 rs1164912285 | 84 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: tolerated (0.09) - PolyPhen: possibly damaging (0.836) - SIFT: deleterious (0.04) Somatic: No Population frequencies: - MAF: 0.000004015 (gnomAD) Accession: NC_000007.14:g.143183669T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183669T>C Locations: - p.I84T (NCI-TCGA:ENST00000446620) - p.Ile84Thr (Ensembl:ENST00000446620) - c.251T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1401573575 | 85 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.653) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000007.14:g.143183671G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183671G>A Locations: - p.Ala85Thr (Ensembl:ENST00000446620) - c.253G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799811544 | 86 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143183674C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183674C>T Locations: - p.Leu86Phe (Ensembl:ENST00000446620) - c.256C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1586387920 | 87 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143183678A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183678A>G Locations: - p.Gln87Arg (Ensembl:ENST00000446620) - c.260A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV101489406 | 88 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.145) - SIFT: tolerated (0.61) Somatic: Yes Accession: NC_000007.14:g.143183681G>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183681G>T Locations: - c.263G>T (NCI-TCGA:ENST00000446620) - p.S88I (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799811656 | 88 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143183682C>A, NC_000007.14:g.143183682C>G Codon: AGC/AGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183682C>A, NC_000007.14:g.143183682C>G Locations: - p.Ser88Arg (Ensembl:ENST00000446620) - c.264C>A (Ensembl:ENST00000446620) - c.264C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470934 | 90 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.3) Somatic: Yes Accession: NC_000007.14:g.143183688G>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183688G>A Locations: - c.270G>A (NCI-TCGA:ENST00000446620) - p.M90I (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs373322883 | 90 | M>V | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.143183686A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183686A>G Locations: - p.Met90Val (Ensembl:ENST00000446620) - c.268A>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1390505551 | 91 | M>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183690T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183690T>A Locations: - p.Met91Lys (Ensembl:ENST00000446620) - c.272T>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1390505551 | 91 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143183690T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183690T>C Locations: - p.Met91Thr (Ensembl:ENST00000446620) - c.272T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs975248628 | 93 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143183695G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183695G>T Locations: - p.Glu93Ter (Ensembl:ENST00000446620) - c.277G>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71471019 | 93 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000007.14:g.143183695G>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183695G>A Locations: - c.277G>A (NCI-TCGA:ENST00000446620) - p.E93K (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs925115047 | 93 | E>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.874) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183696A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183696A>T Locations: - p.Glu93Val (Ensembl:ENST00000446620) - c.278A>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799811895 | 94 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000007.14:g.143183699T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183699T>C Locations: - p.Ile94Thr (Ensembl:ENST00000446620) - c.281T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs774890567 | 95 | T>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.344) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.143183702C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183702C>G Locations: - p.Thr95Ser (Ensembl:ENST00000446620) - c.284C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470886 COSV71470995 COSV71471001 rs573356528 | 98 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000007.14:g.143183711C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183711C>T Locations: - p.S98L (NCI-TCGA:ENST00000446620) - p.Ser98Leu (Ensembl:ENST00000446620) - c.293C>T (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs776217175 | 99 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000007.14:g.143183713A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183713A>G Locations: - p.Thr99Ala (Ensembl:ENST00000446620) - c.295A>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1227894989 | 100 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143183717C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183717C>T Locations: - p.Ser100Phe (Ensembl:ENST00000446620) - c.299C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1200332570 | 101 | L>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000007.14:g.143183719C>A Codon: CTA/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183719C>A Locations: - p.Leu101Ile (Ensembl:ENST00000446620) - c.301C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1249363858 | 101 | L>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.74) - PolyPhen: benign (0.005) - SIFT: tolerated (0.45) Somatic: No Population frequencies: - MAF: 0.000004021 (gnomAD) Accession: NC_000007.14:g.143183720T>G Codon: CTA/CGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183720T>G Locations: - p.L101R (NCI-TCGA:ENST00000446620) - p.Leu101Arg (Ensembl:ENST00000446620) - c.302T>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs759199460 | 102 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000007.14:g.143183722A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183722A>C Locations: - p.Ser102Arg (Ensembl:ENST00000446620) - c.304A>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel | 103 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000007.14:g.143183727T>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183727T>G Locations: - c.309T>G (NCI-TCGA:ENST00000446620) - p.F103L (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs778126259 | 104 | Y>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143183729dup Codon: TAT/TAAT Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183729dup Locations: - p.Tyr104Ter (Ensembl:ENST00000446620) - c.311dup (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs61745613 | 107 | D>N | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.89) Somatic: No Population frequencies: - MAF: 0.00196232 (1000Genomes) Accession: NC_000007.14:g.143183737G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183737G>A Locations: - p.Asp107Asn (Ensembl:ENST00000446620) - c.319G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs369502488 | 108 | A>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000007.14:g.143183740G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183740G>T Locations: - p.Ala108Ser (Ensembl:ENST00000446620) - c.322G>T (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs369502488 | 108 | A>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.97) Somatic: No Accession: NC_000007.14:g.143183740G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183740G>A Locations: - p.Ala108Thr (Ensembl:ENST00000446620) - c.322G>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
COSV71471023 | 108 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.75) Somatic: Yes Accession: NC_000007.14:g.143183741C>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183741C>T Locations: - c.323C>T (NCI-TCGA:ENST00000446620) - p.A108V (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1169120539 | 109 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.449) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143183744T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183744T>C Locations: - p.Val109Ala (Ensembl:ENST00000446620) - c.326T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1467603990 | 109 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000007.14:g.143183743G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183743G>A Locations: - p.Val109Ile (Ensembl:ENST00000446620) - c.325G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799812613 | 110 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143183748T>G Codon: TAT/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183748T>G Locations: - p.Tyr110Ter (Ensembl:ENST00000446620) - c.330T>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs532855766 | 111 | Y>C | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.255) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143183750A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183750A>G Locations: - p.Tyr111Cys (Ensembl:ENST00000446620) - c.332A>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs752096697 | 111 | Y>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.143183749T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183749T>C Locations: - p.Tyr111His (Ensembl:ENST00000446620) - c.331T>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs895306958 | 112 | A>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000007.14:g.143183753C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183753C>T Locations: - p.Ala112Val (Ensembl:ENST00000446620) - c.335C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs780100603 | 113 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.308) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143183757C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183757C>A Locations: - p.Phe113Leu (Ensembl:ENST00000446620) - c.339C>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs756381702 | 113 | F>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.587) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143183756T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183756T>C Locations: - p.Phe113Ser (Ensembl:ENST00000446620) - c.338T>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs749376724 | 115 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143183761A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183761A>G Locations: - p.Ile115Val (Ensembl:ENST00000446620) - c.343A>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1001951185 | 116 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.313) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000007.14:g.143183765G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183765G>A Locations: - p.Ser116Asn (Ensembl:ENST00000446620) - c.347G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799813017 | 116 | S>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.468) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000007.14:g.143183764A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183764A>C Locations: - p.Ser116Arg (Ensembl:ENST00000446620) - c.346A>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1001951185 | 116 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143183765G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183765G>C Locations: - p.Ser116Thr (Ensembl:ENST00000446620) - c.347G>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV101489405 | 117 | F>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.111) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000007.14:g.143183768T>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183768T>A Locations: - c.350T>A (NCI-TCGA:ENST00000446620) - p.F117Y (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs373976967 | 118 | I>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.143183770A>T Codon: ATA/TTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183770A>T Locations: - p.Ile118Leu (Ensembl:ENST00000446620) - c.352A>T (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1210479591 | 118 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143183772A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183772A>G Locations: - p.Ile118Met (Ensembl:ENST00000446620) - c.354A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs777748237 | 119 | F>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143183774T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183774T>C Locations: - p.Phe119Ser (Ensembl:ENST00000446620) - c.356T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs746948074 | 120 | L>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143183777T>G Codon: TTA/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183777T>G Locations: - p.Leu120Ter (Ensembl:ENST00000446620) - c.359T>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1486830858 | 121 | N>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183781T>G Codon: AAT/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183781T>G Locations: - p.Asn121Lys (Ensembl:ENST00000446620) - c.363T>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470877 | 122 | F>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000007.14:g.143183783T>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183783T>G Locations: - c.365T>G (NCI-TCGA:ENST00000446620) - p.F122C (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470946 | 122 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000007.14:g.143183784T>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183784T>G Locations: - c.366T>G (NCI-TCGA:ENST00000446620) - p.F122L (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs776468709 | 123 | C>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.085) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143183786G>T Codon: TGT/TTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183786G>T Locations: - p.Cys123Phe (Ensembl:ENST00000446620) - c.368G>T (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs745606192 | 124 | S>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.634) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183789G>T Codon: AGC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183789G>T Locations: - p.Ser124Ile (Ensembl:ENST00000446620) - c.371G>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs745606192 | 124 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143183789G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183789G>A Locations: - p.Ser124Asn (Ensembl:ENST00000446620) - c.371G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs769488776 | 124 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.69) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143183790C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183790C>G Locations: - p.Ser124Arg (Ensembl:ENST00000446620) - c.372C>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs775221505 | 125 | L>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183792T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183792T>A Locations: - p.Leu125Gln (Ensembl:ENST00000446620) - c.374T>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs763691480 | 126 | W>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143183795G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183795G>A Locations: - p.Trp126Ter (Ensembl:ENST00000446620) - c.377G>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
COSV71470961 | 126 | W>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143183795G>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183795G>T Locations: - c.377G>T (NCI-TCGA:ENST00000446620) - p.W126L (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs775037303 | 129 | A>P | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183803G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183803G>C Locations: - p.Ala129Pro (Ensembl:ENST00000446620) - c.385G>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1586388029 | 129 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143183804C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183804C>T Locations: - p.Ala129Val (Ensembl:ENST00000446620) - c.386C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799813931 | 130 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143183808G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183808G>A Locations: - p.Trp130Ter (Ensembl:ENST00000446620) - c.390G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs756395446 | 132 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143183812A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183812A>C Locations: - p.Ser132Arg (Ensembl:ENST00000446620) - c.394A>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs374361532 | 134 | F>L | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.143183818T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183818T>C Locations: - p.Phe134Leu (Ensembl:ENST00000446620) - c.400T>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs750803376 | 135 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143183823C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183823C>G Locations: - p.Tyr135Ter (Ensembl:ENST00000446620) - c.405C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1311867720 | 135 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143183822A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183822A>G Locations: - p.Tyr135Cys (Ensembl:ENST00000446620) - c.404A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs376081691 | 136 | F>L | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.727) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.143183826T>G Codon: TTT/TTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183826T>G Locations: - p.Phe136Leu (Ensembl:ENST00000446620) - c.408T>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV101489390 | 136 | F>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: tolerated (0.33) Somatic: Yes Accession: NC_000007.14:g.143183825T>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183825T>A Locations: - c.407T>A (NCI-TCGA:ENST00000446620) - p.F136Y (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799814237 | 138 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.381) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000007.14:g.143183831A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183831A>G Locations: - p.Lys138Arg (Ensembl:ENST00000446620) - c.413A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs756392603 | 139 | I>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.823) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143183834T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183834T>C Locations: - p.Ile139Thr (Ensembl:ENST00000446620) - c.416T>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1271519030 | 140 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.823) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143183836G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183836G>A Locations: - p.Ala140Thr (Ensembl:ENST00000446620) - c.418G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs766609291 | 140 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.74) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143183837C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183837C>T Locations: - p.Ala140Val (Ensembl:ENST00000446620) - c.419C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470853 rs755087037 | 142 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.498) - SIFT: tolerated (0.05) - PolyPhen: possibly damaging (0.509) - SIFT: tolerated (0.12) Somatic: No Population frequencies: - MAF: 0.00002409 (gnomAD) Accession: NC_000007.14:g.143183844C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183844C>A Locations: - p.F142L (NCI-TCGA:ENST00000446620) - p.Phe142Leu (Ensembl:ENST00000446620) - c.426C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs200343853 | 142 | F>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143183843T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183843T>C Locations: - p.Phe142Ser (Ensembl:ENST00000446620) - c.425T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV101489407 | 143 | S>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000007.14:g.143183845T>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183845T>A Locations: - c.427T>A (NCI-TCGA:ENST00000446620) - p.S143T (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs746973237 | 144 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.875) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.143183849A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183849A>G Locations: - p.Tyr144Cys (Ensembl:ENST00000446620) - c.431A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs757227495 | 145 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.328) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143183851C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183851C>T Locations: - p.Pro145Ser (Ensembl:ENST00000446620) - c.433C>T (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs757227495 | 145 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.844) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143183851C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183851C>A Locations: - p.Pro145Thr (Ensembl:ENST00000446620) - c.433C>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
TCGA novel | 146 | L>F | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000007.14:g.143183850del Consequence type: frameshift Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183850del Locations: - c.436del (NCI-TCGA:ENST00000446620) - p.L146Ffs*5 (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs775324079 | 146 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.587) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143183854C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183854C>T Locations: - p.Leu146Phe (Ensembl:ENST00000446620) - c.436C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1213652216 | 146 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143183855T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183855T>C Locations: - p.Leu146Pro (Ensembl:ENST00000446620) - c.437T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs775324079 | 146 | L>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.321) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143183854C>G Codon: CTT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183854C>G Locations: - p.Leu146Val (Ensembl:ENST00000446620) - c.436C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799814940 | 149 | K>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143183863A>T Codon: AAA/TAA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183863A>T Locations: - p.Lys149Ter (Ensembl:ENST00000446620) - c.445A>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1266851989 | 149 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000007.14:g.143183864A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183864A>G Locations: - p.Lys149Arg (Ensembl:ENST00000446620) - c.446A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel | 151 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183871G>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183871G>T Locations: - c.453G>T (NCI-TCGA:ENST00000446620) - p.R151S (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs867540296 | 152 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143183874G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183874G>A Locations: - p.Trp152Ter (Ensembl:ENST00000446620) - c.456G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV101489409 | 152 | W>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000007.14:g.143183874G>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183874G>T Locations: - c.456G>T (NCI-TCGA:ENST00000446620) - p.W152C (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1450307458 | 153 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.535) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183875A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183875A>G Locations: - p.Arg153Gly (Ensembl:ENST00000446620) - c.457A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs760214801 | 153 | R>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.162) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143183876G>T Codon: AGA/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183876G>T Locations: - p.Arg153Ile (Ensembl:ENST00000446620) - c.458G>T (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1172697898 | 154 | I>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183879T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183879T>A Locations: - p.Ile154Asn (Ensembl:ENST00000446620) - c.461T>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71471036 | 154 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143183879T>C Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183879T>C Locations: - c.461T>C (NCI-TCGA:ENST00000446620) - p.I154T (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1454096204 | 154 | I>V | Variant of uncertain significance (Ensembl) | gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.368) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.143183878A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183878A>G Locations: - p.Ile154Val (Ensembl:ENST00000446620) - c.460A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs529754897 | 156 | G>* | 1000Genomes ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143183884G>T Codon: GGA/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183884G>T Locations: - p.Gly156Ter (Ensembl:ENST00000446620) - c.466G>T (Ensembl:ENST00000446620) Source type: large scale study | |||||||
TCGA novel | 156 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.049) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000007.14:g.143183885G>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183885G>T Locations: - c.467G>T (NCI-TCGA:ENST00000446620) - p.G156V (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV71470930 rs766695438 | 157 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.924) - SIFT: deleterious (0.04) - PolyPhen: probably damaging (0.927) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.000004014 (gnomAD) Accession: NC_000007.14:g.143183889G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183889G>C Locations: - p.L157F (NCI-TCGA:ENST00000446620) - p.Leu157Phe (Ensembl:ENST00000446620) - c.471G>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799815242 | 157 | L>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.214) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.143183888T>G Codon: TTG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183888T>G Locations: - p.Leu157Trp (Ensembl:ENST00000446620) - c.470T>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799815335 | 158 | I>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.319) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183891T>A Codon: ATA/AAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183891T>A Locations: - p.Ile158Lys (Ensembl:ENST00000446620) - c.473T>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel | 158 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143183892A>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183892A>G Locations: - c.474A>G (NCI-TCGA:ENST00000446620) - p.I158M (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1799815357 | 159 | P>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143183893C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183893C>A Locations: - p.Pro159Thr (Ensembl:ENST00000446620) - c.475C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799815373 | 161 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.51) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.143183899C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183899C>T Locations: - p.Leu161Phe (Ensembl:ENST00000446620) - c.481C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel | 162 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.143183902C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183902C>A Locations: - c.484C>A (NCI-TCGA:ENST00000446620) - p.L162M (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs754122739 | 163 | W>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000007.14:g.143183907G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183907G>T Locations: - p.Trp163Cys (Ensembl:ENST00000446620) - c.489G>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel | 164 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143183908C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183908C>A Locations: - c.490C>A (NCI-TCGA:ENST00000446620) - p.L164M (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 164 | L>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143183909T>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183909T>A Locations: - c.491T>A (NCI-TCGA:ENST00000446620) - p.L164Q (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1586388107 | 165 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143183911T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183911T>G Locations: - p.Ser165Ala (Ensembl:ENST00000446620) - c.493T>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV101489415 | 165 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143183912C>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183912C>T Locations: - c.494C>T (NCI-TCGA:ENST00000446620) - p.S165F (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470787 | 165 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143183911T>C Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183911T>C Locations: - c.493T>C (NCI-TCGA:ENST00000446620) - p.S165P (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs140640589 | 166 | V>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.32) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143183914G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183914G>A Locations: - p.Val166Met (Ensembl:ENST00000446620) - c.496G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs199516405 | 167 | F>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.143183917T>A Codon: TTT/ATT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183917T>A Locations: - p.Phe167Ile (Ensembl:ENST00000446620) - c.499T>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs199593048 | 168 | I>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000007.14:g.143183920A>T Codon: ATT/TTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183920A>T Locations: - p.Ile168Phe (Ensembl:ENST00000446620) - c.502A>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1233290672 | 168 | I>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.556) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183921T>A Codon: ATT/AAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183921T>A Locations: - p.Ile168Asn (Ensembl:ENST00000446620) - c.503T>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs925125016 | 170 | F>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143183927T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183927T>C Locations: - p.Phe170Ser (Ensembl:ENST00000446620) - c.509T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs758364032 | 171 | S>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.701) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000007.14:g.143183929A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183929A>C Locations: - p.Ser171Arg (Ensembl:ENST00000446620) - c.511A>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
COSV71470793 | 172 | H>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.129) - SIFT: tolerated (0.34) Somatic: Yes Accession: NC_000007.14:g.143183933A>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183933A>G Locations: - c.515A>G (NCI-TCGA:ENST00000446620) - p.H172R (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1182490420 | 173 | S>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183936G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183936G>A Locations: - p.Ser173Asn (Ensembl:ENST00000446620) - c.518G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1182490420 | 173 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143183936G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183936G>C Locations: - p.Ser173Thr (Ensembl:ENST00000446620) - c.518G>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs781241594 | 174 | M>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.23) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143183939T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183939T>A Locations: - p.Met174Lys (Ensembl:ENST00000446620) - c.521T>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799815933 | 175 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143183941T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183941T>C Locations: - p.Phe175Leu (Ensembl:ENST00000446620) - c.523T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs750298506 | 175 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143183943C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183943C>G Locations: - p.Phe175Leu (Ensembl:ENST00000446620) - c.525C>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
TCGA novel | 177 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000007.14:g.143183949C>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183949C>G Locations: - c.531C>G (NCI-TCGA:ENST00000446620) - p.I177M (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs371895552 | 177 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000007.14:g.143183947A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183947A>G Locations: - p.Ile177Val (Ensembl:ENST00000446620) - c.529A>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1799816057 | 178 | N>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143183950A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183950A>G Locations: - p.Asn178Asp (Ensembl:ENST00000446620) - c.532A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1251676737 | 179 | I>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143183954T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183954T>A Locations: - p.Ile179Asn (Ensembl:ENST00000446620) - c.536T>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1251676737 | 179 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000007.14:g.143183954T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183954T>C Locations: - p.Ile179Thr (Ensembl:ENST00000446620) - c.536T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs527513580 | 180 | C>G | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000007.14:g.143183956T>G Codon: TGC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183956T>G Locations: - p.Cys180Gly (Ensembl:ENST00000446620) - c.538T>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs527513580 | 180 | C>R | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.293) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000392465 (1000Genomes) Accession: NC_000007.14:g.143183956T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183956T>C Locations: - p.Cys180Arg (Ensembl:ENST00000446620) - c.538T>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1230232747 | 180 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143183957G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183957G>A Locations: - p.Cys180Tyr (Ensembl:ENST00000446620) - c.539G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799816342 | 182 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.143183963T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183963T>C Locations: - p.Val182Ala (Ensembl:ENST00000446620) - c.545T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs768427673 | 182 | V>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.143183962G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183962G>A Locations: - p.Val182Met (Ensembl:ENST00000446620) - c.544G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799816415 | 183 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143183966A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183966A>G Locations: - p.Tyr183Cys (Ensembl:ENST00000446620) - c.548A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs778389499 | 184 | C>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000007.14:g.143183969G>C Codon: TGT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183969G>C Locations: - p.Cys184Ser (Ensembl:ENST00000446620) - c.551G>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs778389499 | 184 | C>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.86) Somatic: No Accession: NC_000007.14:g.143183969G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183969G>A Locations: - p.Cys184Tyr (Ensembl:ENST00000446620) - c.551G>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs771459716 | 186 | N>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.138) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143183975A>T Codon: AAT/ATT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183975A>T Locations: - p.Asn186Ile (Ensembl:ENST00000446620) - c.557A>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs753941229 | 187 | S>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143183978C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183978C>G Locations: - p.Ser187Cys (Ensembl:ENST00000446620) - c.560C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs761079717 | 187 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.164) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143183977T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183977T>A Locations: - p.Ser187Thr (Ensembl:ENST00000446620) - c.559T>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470931 rs753941229 | 187 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0.02) - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000007.14:g.143183978C>A Codon: TCT/TAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183978C>A Locations: - p.S187Y (NCI-TCGA:ENST00000446620) - p.Ser187Tyr (Ensembl:ENST00000446620) - c.560C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs771338888 | 188 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000007.14:g.143183980T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183980T>C Locations: - p.Phe188Leu (Ensembl:ENST00000446620) - c.562T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel rs967140501 | 189 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: tolerated (0.32) - PolyPhen: benign (0.072) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000007.14:g.143183983C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183983C>T Locations: - p.P189S (NCI-TCGA:ENST00000446620) - p.Pro189Ser (Ensembl:ENST00000446620) - c.565C>T (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs967140501 | 189 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.143183983C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183983C>A Locations: - p.Pro189Thr (Ensembl:ENST00000446620) - c.565C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs192883061 | 190 | I>M | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143183988C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183988C>G Locations: - p.Ile190Met (Ensembl:ENST00000446620) - c.570C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs759858537 | 190 | I>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.143183987T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183987T>G Locations: - p.Ile190Ser (Ensembl:ENST00000446620) - c.569T>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs776988555 | 190 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000007.14:g.143183986A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183986A>G Locations: - p.Ile190Val (Ensembl:ENST00000446620) - c.568A>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs370753914 | 191 | H>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000007.14:g.143183989C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183989C>A Locations: - p.His191Asn (Ensembl:ENST00000446620) - c.571C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs752843224 | 191 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143183991C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183991C>G Locations: - p.His191Gln (Ensembl:ENST00000446620) - c.573C>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs370753914 | 191 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.09) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143183989C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183989C>T Locations: - p.His191Tyr (Ensembl:ENST00000446620) - c.571C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470799 | 192 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.8) Somatic: Yes Accession: NC_000007.14:g.143183993C>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183993C>T Locations: - c.575C>T (NCI-TCGA:ENST00000446620) - p.S192F (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
VAR_053348 rs35474877 | 193 | S>F | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00529827 (1000Genomes) Accession: NC_000007.14:g.143183996C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183996C>T Locations: - p.Ser193Phe (UniProt:P59534) Source type: mixed Cross-references: | |||||||
rs1799817301 | 194 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143183999A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183999A>G Locations: - p.Asn194Ser (Ensembl:ENST00000446620) - c.581A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799817252 | 194 | N>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143183998A>T Codon: AAC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143183998A>T Locations: - p.Asn194Tyr (Ensembl:ENST00000446620) - c.580A>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs750434579 | 196 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184004A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184004A>G Locations: - p.Thr196Ala (Ensembl:ENST00000446620) - c.586A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
VAR_053349 rs34169190 | 197 | K>E | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Population frequencies: - MAF: 0.00529827 (1000Genomes) Accession: NC_000007.14:g.143184007A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184007A>G Locations: - p.Lys197Glu (UniProt:P59534) Source type: mixed Cross-references: | |||||||
rs753717672 | 199 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.143184013A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184013A>G Locations: - p.Thr199Ala (Ensembl:ENST00000446620) - c.595A>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs753717672 | 199 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.143184013A>T Codon: ACA/TCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184013A>T Locations: - p.Thr199Ser (Ensembl:ENST00000446620) - c.595A>T (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs2116611934 | 200 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.891) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143184016T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184016T>C Locations: - p.Tyr200His (Ensembl:ENST00000446620) - c.598T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs754770042 | 204 | I>F | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.266) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143184028A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184028A>T Locations: - p.Ile204Phe (Ensembl:ENST00000446620) - c.610A>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1436408580 | 205 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143184032A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184032A>G Locations: - p.Asn205Ser (Ensembl:ENST00000446620) - c.614A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs200819546 | 208 | G>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184040G>T Codon: GGT/TGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184040G>T Locations: - p.Gly208Cys (Ensembl:ENST00000446620) - c.622G>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV101489393 COSV71470970 rs200819546 | 208 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) - PolyPhen: benign (0) - SIFT: tolerated (0.29) Somatic: No Population frequencies: - MAF: 0.0006 (1000Genomes) Accession: NC_000007.14:g.143184040G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184040G>A Locations: - p.G208S (NCI-TCGA:ENST00000446620) - p.Gly208Ser (Ensembl:ENST00000446620) - c.622G>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
COSV71470814 | 212 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000007.14:g.143184054C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184054C>A Locations: - c.636C>A (NCI-TCGA:ENST00000446620) - p.F212L (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel | 213 | F>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000007.14:g.143184056T>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184056T>G Locations: - c.638T>G (NCI-TCGA:ENST00000446620) - p.F213C (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs746455439 | 213 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000007.14:g.143184055T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184055T>C Locations: - p.Phe213Leu (Ensembl:ENST00000446620) - c.637T>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1223437748 | 214 | N>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.551) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143184059A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184059A>C Locations: - p.Asn214Thr (Ensembl:ENST00000446620) - c.641A>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1415616610 | 215 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143184062T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184062T>C Locations: - p.Leu215Pro (Ensembl:ENST00000446620) - c.644T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71471030 rs1799818019 | 216 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143184065G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184065G>A Locations: - p.G216E (NCI-TCGA:ENST00000446620) - p.Gly216Glu (Ensembl:ENST00000446620) - c.647G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470988 rs150355894 | 216 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ESP ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.000004013 (gnomAD) Accession: NC_000007.14:g.143184064G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184064G>A Locations: - p.G216R (NCI-TCGA:ENST00000446620) - p.Gly216Arg (Ensembl:ENST00000446620) - c.646G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs150355894 | 216 | G>W | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184064G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184064G>T Locations: - p.Gly216Trp (Ensembl:ENST00000446620) - c.646G>T (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs776388519 | 218 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143184071T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184071T>C Locations: - p.Val218Ala (Ensembl:ENST00000446620) - c.653T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs776388519 | 218 | V>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184071T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184071T>G Locations: - p.Val218Gly (Ensembl:ENST00000446620) - c.653T>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs536367383 | 218 | V>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.52) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143184070G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184070G>C Locations: - p.Val218Leu (Ensembl:ENST00000446620) - c.652G>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1328438951 | 219 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.143184073A>G Codon: ACT/GCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184073A>G Locations: - p.Thr219Ala (Ensembl:ENST00000446620) - c.655A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs770116409 | 219 | T>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184074C>A Codon: ACT/AAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184074C>A Locations: - p.Thr219Asn (Ensembl:ENST00000446620) - c.656C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs775850511 | 220 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143184076C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184076C>G Locations: - p.Pro220Ala (Ensembl:ENST00000446620) - c.658C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs775850511 | 220 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143184076C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184076C>T Locations: - p.Pro220Ser (Ensembl:ENST00000446620) - c.658C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799818227 | 221 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184080T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184080T>C Locations: - p.Leu221Pro (Ensembl:ENST00000446620) - c.662T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470941 | 222 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.266) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000007.14:g.143184084C>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184084C>G Locations: - c.666C>G (NCI-TCGA:ENST00000446620) - p.I222M (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs368940244 | 222 | I>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000007.14:g.143184083T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184083T>C Locations: - p.Ile222Thr (Ensembl:ENST00000446620) - c.665T>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1799818343 | 223 | M>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000007.14:g.143184087G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184087G>A Locations: - p.Met223Ile (Ensembl:ENST00000446620) - c.669G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs764321914 | 223 | M>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184086T>A Codon: ATG/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184086T>A Locations: - p.Met223Lys (Ensembl:ENST00000446620) - c.668T>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs764321914 | 223 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.888) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143184086T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184086T>C Locations: - p.Met223Thr (Ensembl:ENST00000446620) - c.668T>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
COSV71470950 | 224 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.628) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000007.14:g.143184088T>C Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184088T>C Locations: - c.670T>C (NCI-TCGA:ENST00000446620) - p.F224L (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470788 | 226 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: tolerated (0.29) Somatic: Yes Accession: NC_000007.14:g.143184094C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184094C>A Locations: - c.676C>A (NCI-TCGA:ENST00000446620) - p.L226M (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799818375 | 226 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.923) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143184095T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184095T>C Locations: - p.Leu226Pro (Ensembl:ENST00000446620) - c.677T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs751595887 | 227 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143184097A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184097A>G Locations: - p.Thr227Ala (Ensembl:ENST00000446620) - c.679A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1219831674 | 228 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143184100G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184100G>A Locations: - p.Ala228Thr (Ensembl:ENST00000446620) - c.682G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1280630470 | 229 | T>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.837) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184104C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184104C>A Locations: - p.Thr229Asn (Ensembl:ENST00000446620) - c.686C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel | 230 | L>C | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000007.14:g.143184104del Consequence type: frameshift Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184104del Locations: - c.688del (NCI-TCGA:ENST00000446620) - p.L230Cfs*2 (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 230 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184106C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184106C>A Locations: - c.688C>A (NCI-TCGA:ENST00000446620) - p.L230M (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1337930280 | 231 | L>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143184109C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184109C>A Locations: - p.Leu231Met (Ensembl:ENST00000446620) - c.691C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs761944957 | 232 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143184113T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184113T>C Locations: - p.Ile232Thr (Ensembl:ENST00000446620) - c.695T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs766442088 | 233 | L>I | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143184115C>A Codon: CTC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184115C>A Locations: - p.Leu233Ile (Ensembl:ENST00000446620) - c.697C>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs766442088 | 233 | L>V | Likely benign (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000007.14:g.143184115C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184115C>G Locations: - p.Leu233Val (Ensembl:ENST00000446620) - c.697C>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs201680429 | 236 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143184126G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184126G>C Locations: - p.Lys236Asn (Ensembl:ENST00000446620) - c.708G>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1586388244 | 237 | R>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143184127A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184127A>G Locations: - p.Arg237Gly (Ensembl:ENST00000446620) - c.709A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1254830262 | 238 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143184130C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184130C>T Locations: - p.His238Tyr (Ensembl:ENST00000446620) - c.712C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799818831 | 239 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.324) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143184133A>G Codon: ACC/GCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184133A>G Locations: - p.Thr239Ala (Ensembl:ENST00000446620) - c.715A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs899349977 | 239 | T>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.469) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.143184134C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184134C>T Locations: - p.Thr239Ile (Ensembl:ENST00000446620) - c.716C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs899349977 | 239 | T>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184134C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184134C>A Locations: - p.Thr239Asn (Ensembl:ENST00000446620) - c.716C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs899349977 | 239 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.761) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143184134C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184134C>G Locations: - p.Thr239Ser (Ensembl:ENST00000446620) - c.716C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1222000630 | 240 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.467) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143184136C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184136C>G Locations: - p.Leu240Val (Ensembl:ENST00000446620) - c.718C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1374655880 | 241 | H>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000007.14:g.143184140A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184140A>G Locations: - p.His241Arg (Ensembl:ENST00000446620) - c.722A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1289923955 | 241 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143184139C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184139C>T Locations: - p.His241Tyr (Ensembl:ENST00000446620) - c.721C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs754859828 | 242 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184143T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184143T>C Locations: - p.Met242Thr (Ensembl:ENST00000446620) - c.725T>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1167055291 | 242 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.714) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184142A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184142A>G Locations: - p.Met242Val (Ensembl:ENST00000446620) - c.724A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71471020 | 243 | G>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.083) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000007.14:g.143184146G>C Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184146G>C Locations: - c.728G>C (NCI-TCGA:ENST00000446620) - p.G243A (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1184592956 | 244 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.849) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143184148A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184148A>G Locations: - p.Ser244Gly (Ensembl:ENST00000446620) - c.730A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs200298051 | 244 | S>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143184150C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184150C>G Locations: - p.Ser244Arg (Ensembl:ENST00000446620) - c.732C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs752449309 | 245 | N>H | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.245) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000007.14:g.143184151A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184151A>C Locations: - p.Asn245His (Ensembl:ENST00000446620) - c.733A>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs757996157 | 246 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.104) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000007.14:g.143184154G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184154G>A Locations: - p.Ala246Thr (Ensembl:ENST00000446620) - c.736G>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1400683512 | 247 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.542) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143184157A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184157A>G Locations: - p.Thr247Ala (Ensembl:ENST00000446620) - c.739A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799819455 | 248 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184161G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184161G>A Locations: - p.Gly248Glu (Ensembl:ENST00000446620) - c.743G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799819455 | 248 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184161G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184161G>T Locations: - p.Gly248Val (Ensembl:ENST00000446620) - c.743G>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1008137078 | 249 | S>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.143184164C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184164C>T Locations: - p.Ser249Phe (Ensembl:ENST00000446620) - c.746C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs200455132 | 250 | N>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143184167A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184167A>G Locations: - p.Asn250Ser (Ensembl:ENST00000446620) - c.749A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470989 rs890745343 | 251 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.591) - SIFT: tolerated (0.1) - PolyPhen: possibly damaging (0.586) - SIFT: tolerated (0.14) Somatic: No Population frequencies: - MAF: 0.000008025 (gnomAD) Accession: NC_000007.14:g.143184169G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184169G>A Locations: - p.D251N (NCI-TCGA:ENST00000446620) - p.Asp251Asn (Ensembl:ENST00000446620) - c.751G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs746371834 | 252 | P>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143184173C>A Codon: CCC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184173C>A Locations: - p.Pro252His (Ensembl:ENST00000446620) - c.755C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs184819681 | 253 | S>N | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00588697 (1000Genomes) Accession: NC_000007.14:g.143184176G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184176G>A Locations: - p.Ser253Asn (Ensembl:ENST00000446620) - c.758G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470888 | 254 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.047) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000007.14:g.143184180G>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184180G>A Locations: - c.762G>A (NCI-TCGA:ENST00000446620) - p.M254I (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1277736115 | 254 | M>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143184178A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184178A>T Locations: - p.Met254Leu (Ensembl:ENST00000446620) - c.760A>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799819965 | 254 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.661) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.143184179T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184179T>C Locations: - p.Met254Thr (Ensembl:ENST00000446620) - c.761T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1277736115 | 254 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143184178A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184178A>G Locations: - p.Met254Val (Ensembl:ENST00000446620) - c.760A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs775732287 | 256 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184185C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184185C>T Locations: - p.Ala256Val (Ensembl:ENST00000446620) - c.767C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs749600420 | 257 | H>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184187C>G Codon: CAC/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184187C>G Locations: - p.His257Asp (Ensembl:ENST00000446620) - c.769C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470792 rs749600420 | 257 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.04) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000008022 (gnomAD) Accession: NC_000007.14:g.143184187C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184187C>T Locations: - p.H257Y (NCI-TCGA:ENST00000446620) - p.His257Tyr (Ensembl:ENST00000446620) - c.769C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs4103817 COSV71470940 | 258 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Ensembl NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.21) - PolyPhen: benign (0) - SIFT: tolerated (0.41) Somatic: Yes Accession: NC_000007.14:g.143184192G>A, NC_000007.14:g.143184192G>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184192G>A, NC_000007.14:g.143184192G>T Locations: - p.Met258Ile (Ensembl:ENST00000446620) - c.774G>A (Ensembl:ENST00000446620) - c.774G>T (NCI-TCGA:ENST00000446620) - p.M258I (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs774665526 | 258 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.81) Somatic: No Accession: NC_000007.14:g.143184190A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184190A>T Locations: - p.Met258Leu (Ensembl:ENST00000446620) - c.772A>T (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs774665526 | 258 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000007.14:g.143184190A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184190A>G Locations: - p.Met258Val (Ensembl:ENST00000446620) - c.772A>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs762032746 | 259 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.823) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.143184193G>A, NC_000007.14:g.143184193G>C Codon: GGG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184193G>A, NC_000007.14:g.143184193G>C Locations: - p.Gly259Arg (Ensembl:ENST00000446620) - c.775G>A (Ensembl:ENST00000446620) - c.775G>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1799820401 | 259 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184194G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184194G>T Locations: - p.Gly259Val (Ensembl:ENST00000446620) - c.776G>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1361678106 | 261 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184200T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184200T>C Locations: - p.Ile261Thr (Ensembl:ENST00000446620) - c.782T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs759530127 | 264 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.9) Somatic: No Accession: NC_000007.14:g.143184209T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184209T>C Locations: - p.Ile264Thr (Ensembl:ENST00000446620) - c.791T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799820556 | 266 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.165) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000007.14:g.143184215A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184215A>G Locations: - p.Tyr266Cys (Ensembl:ENST00000446620) - c.797A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs550147475 | 268 | L>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184221T>G Codon: CTC/CGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184221T>G Locations: - p.Leu268Arg (Ensembl:ENST00000446620) - c.803T>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
TCGA novel | 269 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000007.14:g.143184223A>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184223A>G Locations: - c.805A>G (NCI-TCGA:ENST00000446620) - p.I269V (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs544873094 | 270 | L>F | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: tolerated (0.1) Somatic: No Population frequencies: - MAF: 0.000196232 (1000Genomes) Accession: NC_000007.14:g.143184226C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184226C>T Locations: - p.Leu270Phe (Ensembl:ENST00000446620) - c.808C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs758168161 | 270 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143184227T>C Codon: CTC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184227T>C Locations: - p.Leu270Pro (Ensembl:ENST00000446620) - c.809T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs763708210 | 271 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143184229T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184229T>C Locations: - p.Tyr271His (Ensembl:ENST00000446620) - c.811T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470838 | 273 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: tolerated (0.34) Somatic: Yes Accession: NC_000007.14:g.143184237C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184237C>A Locations: - c.819C>A (NCI-TCGA:ENST00000446620) - p.F273L (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs756830055 | 274 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.658) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143184240T>G Codon: AAT/AAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184240T>G Locations: - p.Asn274Lys (Ensembl:ENST00000446620) - c.822T>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1000249120 | 275 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.68) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143184242C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184242C>G Locations: - p.Ala275Gly (Ensembl:ENST00000446620) - c.824C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV101489394 | 275 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.361) - SIFT: tolerated (0.29) Somatic: Yes Accession: NC_000007.14:g.143184241G>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184241G>A Locations: - c.823G>A (NCI-TCGA:ENST00000446620) - p.A275T (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs780669229 | 276 | V>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000007.14:g.143184244G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184244G>A Locations: - p.Val276Ile (Ensembl:ENST00000446620) - c.826G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel | 277 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184248C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184248C>A Locations: - c.830C>A (NCI-TCGA:ENST00000446620) - p.A277D (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs745326029 | 277 | A>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.864) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000007.14:g.143184248C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184248C>T Locations: - p.Ala277Val (Ensembl:ENST00000446620) - c.830C>T (Ensembl:ENST00000446620) Source type: large scale study | |||||||
COSV71470829 | 279 | F>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143184254T>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184254T>G Locations: - c.836T>G (NCI-TCGA:ENST00000446620) - p.F279C (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799821164 | 281 | Y>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143184261C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184261C>G Locations: - p.Tyr281Ter (Ensembl:ENST00000446620) - c.843C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1445068041 | 281 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000007.14:g.143184259T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184259T>C Locations: - p.Tyr281His (Ensembl:ENST00000446620) - c.841T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs762803876 | 282 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.84) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184263T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184263T>C Locations: - p.Leu282Pro (Ensembl:ENST00000446620) - c.845T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799821361 | 285 | M>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143184273G>C Codon: ATG/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184273G>C Locations: - p.Met285Ile (Ensembl:ENST00000446620) - c.855G>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1347888376 | 285 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000007.14:g.143184272T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184272T>C Locations: - p.Met285Thr (Ensembl:ENST00000446620) - c.854T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799821273 | 285 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000007.14:g.143184271A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184271A>G Locations: - p.Met285Val (Ensembl:ENST00000446620) - c.853A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs749638007 | 289 | N>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000007.14:g.143184283A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184283A>G Locations: - p.Asn289Asp (Ensembl:ENST00000446620) - c.865A>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs749638007 | 289 | N>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.352) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000007.14:g.143184283A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184283A>C Locations: - p.Asn289His (Ensembl:ENST00000446620) - c.865A>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1191456135 | 292 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143184294G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184294G>A Locations: - p.Trp292Ter (Ensembl:ENST00000446620) - c.876G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1347710781 | 292 | W>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143184293G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184293G>A Locations: - p.Trp292Ter (Ensembl:ENST00000446620) - c.875G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1347710781 | 292 | W>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.227) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143184293G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184293G>T Locations: - p.Trp292Leu (Ensembl:ENST00000446620) - c.875G>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel | 294 | N>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143184299A>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184299A>T Locations: - c.881A>T (NCI-TCGA:ENST00000446620) - p.N294I (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1799821599 | 294 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000007.14:g.143184299A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184299A>G Locations: - p.Asn294Ser (Ensembl:ENST00000446620) - c.881A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799821641 | 295 | L>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.164) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143184302T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184302T>C Locations: - p.Leu295Ser (Ensembl:ENST00000446620) - c.884T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799821739 | 297 | Q>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143184307C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184307C>G Locations: - p.Gln297Glu (Ensembl:ENST00000446620) - c.889C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799821810 | 298 | I>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184312C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184312C>G Locations: - p.Ile298Met (Ensembl:ENST00000446620) - c.894C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs375785254 | 299 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143184313A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184313A>C Locations: - p.Ile299Leu (Ensembl:ENST00000446620) - c.895A>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470898 | 299 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.402) - SIFT: tolerated (0.31) Somatic: Yes Accession: NC_000007.14:g.143184313A>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184313A>G Locations: - c.895A>G (NCI-TCGA:ENST00000446620) - p.I299V (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs748374024 | 300 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000007.14:g.143184318G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184318G>A Locations: - p.Met300Ile (Ensembl:ENST00000446620) - c.900G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1586388384 | 300 | M>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.78) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184317T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184317T>G Locations: - p.Met300Arg (Ensembl:ENST00000446620) - c.899T>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1586388384 | 300 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143184317T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184317T>C Locations: - p.Met300Thr (Ensembl:ENST00000446620) - c.899T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs772333841 | 301 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143184320C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184320C>A Locations: - p.Ala301Asp (Ensembl:ENST00000446620) - c.902C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs772333841 | 301 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143184320C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184320C>T Locations: - p.Ala301Val (Ensembl:ENST00000446620) - c.902C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV71470947 | 302 | A>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000007.14:g.143184322G>C Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184322G>C Locations: - c.904G>C (NCI-TCGA:ENST00000446620) - p.A302P (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs773435081 | 302 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.587) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143184323C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184323C>T Locations: - p.Ala302Val (Ensembl:ENST00000446620) - c.905C>T (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs760738976 | 303 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143184326A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184326A>G Locations: - p.Tyr303Cys (Ensembl:ENST00000446620) - c.908A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs760738976 | 303 | Y>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143184326A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184326A>C Locations: - p.Tyr303Ser (Ensembl:ENST00000446620) - c.908A>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs765115555 | 304 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184328C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184328C>G Locations: - p.Pro304Ala (Ensembl:ENST00000446620) - c.910C>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs765115555 | 304 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184328C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184328C>T Locations: - p.Pro304Ser (Ensembl:ENST00000446620) - c.910C>T (Ensembl:ENST00000446620) Source type: large scale study | |||||||
COSV71470973 | 304 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143184328C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184328C>A Locations: - c.910C>A (NCI-TCGA:ENST00000446620) - p.P304T (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs956306349 | 305 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143184331G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184331G>C Locations: - p.Ala305Pro (Ensembl:ENST00000446620) - c.913G>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs956306349 | 305 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.777) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000007.14:g.143184331G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184331G>A Locations: - p.Ala305Thr (Ensembl:ENST00000446620) - c.913G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs2116612340 | 306 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143184334A>G Codon: AGC/GGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184334A>G Locations: - p.Ser306Gly (Ensembl:ENST00000446620) - c.916A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV101489417 | 306 | S>T | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: frameshift Somatic: Yes Accession: NC_000007.14:g.143184335del Consequence type: frameshift Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184335del Locations: - c.917del (NCI-TCGA:ENST00000446620) - p.S306Tfs*6 (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs775480242 | 307 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.656) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143184339C>G Codon: CAC/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184339C>G Locations: - p.His307Gln (Ensembl:ENST00000446620) - c.921C>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
TCGA novel | 308 | S>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143184341C>A Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184341C>A Locations: - c.923C>A (NCI-TCGA:ENST00000446620) - p.S308* (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV101489418 | 308 | S>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000007.14:g.143184340T>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184340T>A Locations: - c.922T>A (NCI-TCGA:ENST00000446620) - p.S308T (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel | 309 | I>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.435) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184344T>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184344T>G Locations: - c.926T>G (NCI-TCGA:ENST00000446620) - p.I309S (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs762700430 | 309 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143184343A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184343A>G Locations: - p.Ile309Val (Ensembl:ENST00000446620) - c.925A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1317841996 | 311 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184350T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184350T>C Locations: - p.Leu311Pro (Ensembl:ENST00000446620) - c.932T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1317841996 | 311 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184350T>G Codon: CTG/CGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184350T>G Locations: - p.Leu311Arg (Ensembl:ENST00000446620) - c.932T>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799822508 | 312 | I>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184352A>C Codon: ATT/CTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184352A>C Locations: - p.Ile312Leu (Ensembl:ENST00000446620) - c.934A>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel | 312 | I>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184353T>G Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184353T>G Locations: - c.935T>G (NCI-TCGA:ENST00000446620) - p.I312S (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1237620018 | 313 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000007.14:g.143184355C>G Codon: CAA/GAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184355C>G Locations: - p.Gln313Glu (Ensembl:ENST00000446620) - c.937C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel | 313 | Q>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000007.14:g.143184355C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184355C>A Locations: - c.937C>A (NCI-TCGA:ENST00000446620) - p.Q313K (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1799822595 | 313 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000007.14:g.143184356A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184356A>G Locations: - p.Gln313Arg (Ensembl:ENST00000446620) - c.938A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1273750734 | 315 | N>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184362A>T Codon: AAC/ATC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184362A>T Locations: - p.Asn315Ile (Ensembl:ENST00000446620) - c.944A>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1273750734 | 315 | N>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184362A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184362A>C Locations: - p.Asn315Thr (Ensembl:ENST00000446620) - c.944A>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1211626039 | 316 | P>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.466) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143184364C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184364C>G Locations: - p.Pro316Ala (Ensembl:ENST00000446620) - c.946C>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel | 316 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.359) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000007.14:g.143184364C>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184364C>T Locations: - c.946C>T (NCI-TCGA:ENST00000446620) - p.P316S (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1211626039 | 316 | P>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.894) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184364C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184364C>A Locations: - p.Pro316Thr (Ensembl:ENST00000446620) - c.946C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs200741314 | 317 | G>E | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000007.14:g.143184368G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184368G>A Locations: - p.Gly317Glu (Ensembl:ENST00000446620) - c.950G>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
COSV71470965 | 317 | G>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000007.14:g.143184367G>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184367G>T Locations: - c.949G>T (NCI-TCGA:ENST00000446620) - p.G317W (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs761470626 | 320 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000007.14:g.143184376A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184376A>G Locations: - p.Arg320Gly (Ensembl:ENST00000446620) - c.958A>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
COSV71470880 rs1248683026 | 320 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.285) - SIFT: deleterious (0.04) - PolyPhen: benign (0.293) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000004031 (gnomAD) Accession: NC_000007.14:g.143184377G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184377G>A Locations: - p.R320K (NCI-TCGA:ENST00000446620) - p.Arg320Lys (Ensembl:ENST00000446620) - c.959G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs779236389 | 321 | A>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.78) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000007.14:g.143184379G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184379G>A Locations: - p.Ala321Thr (Ensembl:ENST00000446620) - c.961G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs767091904 | 322 | W>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143184384G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184384G>A Locations: - p.Trp322Ter (Ensembl:ENST00000446620) - c.966G>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs868687504 | 322 | W>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143184383G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184383G>A Locations: - p.Trp322Ter (Ensembl:ENST00000446620) - c.965G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1563027728 | 323 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.369) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000007.14:g.143184386A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184386A>G Locations: - p.Lys323Arg (Ensembl:ENST00000446620) - c.968A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV101489412 rs755602052 | 324 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.36) - PolyPhen: benign (0.003) - SIFT: tolerated (0.6) Somatic: No Population frequencies: - MAF: 0.0000162 (gnomAD) Accession: NC_000007.14:g.143184389G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184389G>A Locations: - p.R324Q (NCI-TCGA:ENST00000446620) - p.Arg324Gln (Ensembl:ENST00000446620) - c.971G>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
COSV71470883 rs749967220 | 324 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0) - PolyPhen: benign (0.015) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.00003645 (gnomAD) Accession: NC_000007.14:g.143184388C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184388C>T Locations: - p.R324W (NCI-TCGA:ENST00000446620) - p.Arg324Trp (Ensembl:ENST00000446620) - c.970C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799823424 | 325 | L>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.86) Somatic: No Accession: NC_000007.14:g.143184391C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184391C>T Locations: - p.Leu325Phe (Ensembl:ENST00000446620) - c.973C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs376978353 | 325 | L>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.951) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184392T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184392T>C Locations: - p.Leu325Pro (Ensembl:ENST00000446620) - c.974T>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs755363234 | 326 | Q>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184395A>C Codon: CAG/CCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184395A>C Locations: - p.Gln326Pro (Ensembl:ENST00000446620) - c.977A>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
COSV71470815 rs779406358 | 328 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000004087 (gnomAD) Accession: NC_000007.14:g.143184400C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184400C>T Locations: - p.R328* (NCI-TCGA:ENST00000446620) - p.Arg328Ter (Ensembl:ENST00000446620) - c.982C>T (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs748463594 | 328 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (1) Somatic: No Accession: NC_000007.14:g.143184401G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184401G>A Locations: - p.Arg328Gln (Ensembl:ENST00000446620) - c.983G>A (Ensembl:ENST00000446620) Source type: large scale study | |||||||
TCGA novel | 329 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143184403C>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184403C>T Locations: - c.985C>T (NCI-TCGA:ENST00000446620) - p.L329F (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1799823671 | 329 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.695) - SIFT: deleterious (0) Somatic: No Accession: NC_000007.14:g.143184404T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184404T>C Locations: - p.Leu329Pro (Ensembl:ENST00000446620) - c.986T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
TCGA novel | 330 | H>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.575) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000007.14:g.143184406C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184406C>A Locations: - c.988C>A (NCI-TCGA:ENST00000446620) - p.H330N (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV101489425 | 331 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.449) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000007.14:g.143184409C>A Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184409C>A Locations: - c.991C>A (NCI-TCGA:ENST00000446620) - p.L331I (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799823707 | 331 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143184410T>G Codon: CTT/CGT Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184410T>G Locations: - p.Leu331Arg (Ensembl:ENST00000446620) - c.992T>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1799823787 | 332 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143184413A>G Codon: TAC/TGC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184413A>G Locations: - p.Tyr332Cys (Ensembl:ENST00000446620) - c.995A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1396119943 | 332 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000007.14:g.143184412T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184412T>C Locations: - p.Tyr332His (Ensembl:ENST00000446620) - c.994T>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs981993270 | 333 | P>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.365) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000007.14:g.143184416C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184416C>A Locations: - p.Pro333Gln (Ensembl:ENST00000446620) - c.998C>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs969625669 | 334 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.693) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000007.14:g.143184418A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184418A>G Locations: - p.Lys334Glu (Ensembl:ENST00000446620) - c.1000A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
COSV101489403 | 334 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.831) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000007.14:g.143184420A>T Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184420A>T Locations: - c.1002A>T (NCI-TCGA:ENST00000446620) - p.K334N (NCI-TCGA:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1461394046 | 335 | E>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000007.14:g.143184422A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184422A>C Locations: - p.Glu335Ala (Ensembl:ENST00000446620) - c.1004A>C (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1461394046 | 335 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000007.14:g.143184422A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184422A>G Locations: - p.Glu335Gly (Ensembl:ENST00000446620) - c.1004A>G (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs1356786165 | 336 | W>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000007.14:g.143184426G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184426G>A Locations: - p.Trp336Ter (Ensembl:ENST00000446620) - c.1008G>A (Ensembl:ENST00000446620) Source type: large scale study Cross-references: | |||||||
rs772426382 | 336 | W>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000007.14:g.143184424T>G Codon: TGG/GGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184424T>G Locations: - p.Trp336Gly (Ensembl:ENST00000446620) - c.1006T>G (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs772426382 | 336 | W>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.98) Somatic: No Accession: NC_000007.14:g.143184424T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184424T>C Locations: - p.Trp336Arg (Ensembl:ENST00000446620) - c.1006T>C (Ensembl:ENST00000446620) Source type: large scale study | |||||||
rs1799824108 | 337-339 | TL>R | TOPMed | ||||
Consequence: stop lost Somatic: No Accession: NC_000007.14:g.143184428_143184433del Codon: ACTCTGTGA/AGA Consequence type: stop lost Cytogenetic band: 7q34 Genomic location: NC_000007.14:g.143184428_143184433del Locations: - p.Thr337_Ter339delinsArg (Ensembl:ENST00000446620) - c.1010_1015del (Ensembl:ENST00000446620) Source type: large scale study Cross-references: |