P28325 · CYTD_HUMAN
- ProteinCystatin-D
- GeneCST5
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids142 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1156999791 | 2 | M>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.23879673T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879673T>A Locations: - p.Met2Leu (Ensembl:ENST00000304710) - c.4A>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1986042942 | 2 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000020.11:g.23879672A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879672A>G Locations: - p.Met2Thr (Ensembl:ENST00000304710) - c.5T>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs545997699 | 3 | W>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.23879668C>T Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879668C>T Locations: - p.Trp3Ter (Ensembl:ENST00000304710) - c.9G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs879108154 | 4 | P>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879666G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879666G>T Locations: - p.Pro4His (Ensembl:ENST00000304710) - c.11C>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs879108154 | 4 | P>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.722) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23879666G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879666G>A Locations: - p.Pro4Leu (Ensembl:ENST00000304710) - c.11C>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1986042823 | 4 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.65) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000020.11:g.23879667G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879667G>A Locations: - p.Pro4Ser (Ensembl:ENST00000304710) - c.10C>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1241204007 | 5 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879663A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879663A>G Locations: - p.Met5Thr (Ensembl:ENST00000304710) - c.14T>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1379349777 | 6 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.23879661G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879661G>A Locations: - p.His6Tyr (Ensembl:ENST00000304710) - c.16C>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV59014459 rs756477706 | 7 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) - PolyPhen: benign (0.012) - SIFT: tolerated (0.51) Somatic: No Population frequencies: - MAF: 0.000004003 (gnomAD) Accession: NC_000020.11:g.23879657G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879657G>A Locations: - p.T7I (NCI-TCGA:ENST00000304710) - p.Thr7Ile (Ensembl:ENST00000304710) - c.20C>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs756477706 | 7 | T>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000020.11:g.23879657G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879657G>T Locations: - p.Thr7Asn (Ensembl:ENST00000304710) - c.20C>A (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1600458029 | 7 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000020.11:g.23879658T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879658T>G Locations: - p.Thr7Pro (Ensembl:ENST00000304710) - c.19A>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs751297032 | 8 | P>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000020.11:g.23879655G>C Codon: CCA/GCA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879655G>C Locations: - p.Pro8Ala (Ensembl:ENST00000304710) - c.22C>G (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs751297032 | 8 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.23879655G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879655G>T Locations: - p.Pro8Thr (Ensembl:ENST00000304710) - c.22C>A (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1325517682 | 11 | L>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.774) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879645A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879645A>T Locations: - p.Leu11Gln (Ensembl:ENST00000304710) - c.32T>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs752192707 | 14 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.374) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.23879637C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879637C>A Locations: - p.Ala14Ser (Ensembl:ENST00000304710) - c.40G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs759349174 | 16 | M>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000020.11:g.23879629C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879629C>T Locations: - p.Met16Ile (Ensembl:ENST00000304710) - c.48G>A (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs374427545 | 16 | M>T | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000020.11:g.23879630A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879630A>G Locations: - p.Met16Thr (Ensembl:ENST00000304710) - c.47T>C (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1986041706 | 17 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.159) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000020.11:g.23879627A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879627A>G Locations: - p.Val17Ala (Ensembl:ENST00000304710) - c.50T>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1157541672 | 17 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.101) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000020.11:g.23879628C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879628C>A Locations: - p.Val17Leu (Ensembl:ENST00000304710) - c.49G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs753691902 | 18 | A>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000020.11:g.23879625C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879625C>A Locations: - p.Ala18Ser (Ensembl:ENST00000304710) - c.52G>T (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs753691902 | 18 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000020.11:g.23879625C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879625C>T Locations: - p.Ala18Thr (Ensembl:ENST00000304710) - c.52G>A (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs140331811 | 19 | V>M | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000020.11:g.23879622C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879622C>T Locations: - p.Val19Met (Ensembl:ENST00000304710) - c.55G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1986041369 | 20 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.699) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23879619C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879619C>G Locations: - p.Ala20Pro (Ensembl:ENST00000304710) - c.58G>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
TCGA novel | 20 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.42) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.23879618G>A Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879618G>A Locations: - c.59C>T (NCI-TCGA:ENST00000304710) - p.A20V (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs761896231 | 21 | G>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000020.11:g.23879616C>G, NC_000020.11:g.23879616C>T Codon: GGG/CGG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879616C>G, NC_000020.11:g.23879616C>T Locations: - p.Gly21Arg (Ensembl:ENST00000304710) - c.61G>C (Ensembl:ENST00000304710) - c.61G>A (Ensembl:ENST00000304710) Source type: large scale study | |||||||
TCGA novel | 21 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000020.11:g.23879615C>A Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879615C>A Locations: - c.62G>T (NCI-TCGA:ENST00000304710) - p.G21V (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1345871546 | 22 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.263) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000020.11:g.23879612C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879612C>T Locations: - p.Ser22Asn (Ensembl:ENST00000304710) - c.65G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs146740938 | 23 | A>G | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000020.11:g.23879609G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879609G>C Locations: - p.Ala23Gly (Ensembl:ENST00000304710) - c.68C>G (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1276663775 | 23 | A>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.92) Somatic: No Accession: NC_000020.11:g.23879610C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879610C>A Locations: - p.Ala23Ser (Ensembl:ENST00000304710) - c.67G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1276663775 | 23 | A>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000020.11:g.23879610C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879610C>T Locations: - p.Ala23Thr (Ensembl:ENST00000304710) - c.67G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs146740938 | 23 | A>V | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000020.11:g.23879609G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879609G>A Locations: - p.Ala23Val (Ensembl:ENST00000304710) - c.68C>T (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs145031249 | 24 | S>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000020.11:g.23879606G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879606G>A Locations: - p.Ser24Leu (Ensembl:ENST00000304710) - c.71C>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs769239405 | 24 | S>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000020.11:g.23879607A>G Codon: TCG/CCG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879607A>G Locations: - p.Ser24Pro (Ensembl:ENST00000304710) - c.70T>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1401553430 | 25 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000020.11:g.23879603G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879603G>C Locations: - p.Ala25Gly (Ensembl:ENST00000304710) - c.74C>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs746217430 | 26 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.331) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000020.11:g.23879599T>G Codon: CAA/CAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879599T>G Locations: - p.Gln26His (Ensembl:ENST00000304710) - c.78A>C (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs561868014 | 27 | S>T | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.55) Somatic: No Accession: NC_000020.11:g.23879598A>T Codon: TCT/ACT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879598A>T Locations: - p.Ser27Thr (Ensembl:ENST00000304710) - c.79T>A (Ensembl:ENST00000304710) Source type: large scale study | |||||||
COSV59015383 | 28 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000020.11:g.23879594C>T Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879594C>T Locations: - c.83G>A (NCI-TCGA:ENST00000304710) - p.R28K (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1986040137 | 30 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.23879587C>G Codon: TTG/TTC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879587C>G Locations: - p.Leu30Phe (Ensembl:ENST00000304710) - c.90G>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs541638885 | 31 | A>T | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000020.11:g.23879586C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879586C>T Locations: - p.Ala31Thr (Ensembl:ENST00000304710) - c.91G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs562742803 | 32 | G>C | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879583C>A Codon: GGT/TGT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879583C>A Locations: - p.Gly32Cys (Ensembl:ENST00000304710) - c.94G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs562742803 | 32 | G>S | 1000Genomes ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23879583C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879583C>T Locations: - p.Gly32Ser (Ensembl:ENST00000304710) - c.94G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs753760355 | 33 | G>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.134) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.23879579C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879579C>T Locations: - p.Gly33Asp (Ensembl:ENST00000304710) - c.98G>A (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs547813815 | 34 | I>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000020.11:g.23879576A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879576A>G Locations: - p.Ile34Thr (Ensembl:ENST00000304710) - c.101T>C (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1194856160 | 34 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000020.11:g.23879577T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879577T>C Locations: - p.Ile34Val (Ensembl:ENST00000304710) - c.100A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1986039693 | 35 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.261) - SIFT: tolerated (0.43) Somatic: No Accession: NC_000020.11:g.23879573T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879573T>C Locations: - p.His35Arg (Ensembl:ENST00000304710) - c.104A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs773285104 | 36 | A>D | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.23879570G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879570G>T Locations: - p.Ala36Asp (Ensembl:ENST00000304710) - c.107C>A (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1216220927 | 36 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.351) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23879571C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879571C>T Locations: - p.Ala36Thr (Ensembl:ENST00000304710) - c.106G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs773285104 | 36 | A>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.378) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.23879570G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879570G>A Locations: - p.Ala36Val (Ensembl:ENST00000304710) - c.107C>T (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs764118057 | 38 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.124) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000020.11:g.23879563G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879563G>T Locations: - p.Asp38Glu (Ensembl:ENST00000304710) - c.114C>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs145163468 | 38 | D>N | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000020.11:g.23879565C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879565C>T Locations: - p.Asp38Asn (Ensembl:ENST00000304710) - c.112G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs370924959 | 39 | L>F | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.735) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000020.11:g.23879562G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879562G>A Locations: - p.Leu39Phe (Ensembl:ENST00000304710) - c.115C>T (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs370924959 | 39 | L>I | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000020.11:g.23879562G>T Codon: CTC/ATC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879562G>T Locations: - p.Leu39Ile (Ensembl:ENST00000304710) - c.115C>A (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1207042421 | 40 | N>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.887) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879558T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879558T>A Locations: - p.Asn40Ile (Ensembl:ENST00000304710) - c.119A>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs532505063 | 41 | D>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879555T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879555T>C Locations: - p.Asp41Gly (Ensembl:ENST00000304710) - c.122A>G (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs2122214138 | 42 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.803) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879551C>A Codon: AAG/AAT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879551C>A Locations: - p.Lys42Asn (Ensembl:ENST00000304710) - c.126G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1277299662 | 43 | S>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.882) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879549C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879549C>A Locations: - p.Ser43Ile (Ensembl:ENST00000304710) - c.128G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs201199015 | 45 | Q>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.23879544G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879544G>A Locations: - p.Gln45Ter (Ensembl:ENST00000304710) - c.133C>T (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1017666862 | 45 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000020.11:g.23879542C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879542C>A Locations: - p.Gln45His (Ensembl:ENST00000304710) - c.135G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs201199015 | 45 | Q>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.48) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.23879544G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879544G>T Locations: - p.Gln45Lys (Ensembl:ENST00000304710) - c.133C>A (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs2122214121 | 45 | Q>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879543T>G Codon: CAG/CCG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879543T>G Locations: - p.Gln45Pro (Ensembl:ENST00000304710) - c.134A>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs777095406 | 46 | C>F | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879540C>A Codon: TGT/TTT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879540C>A Locations: - p.Cys46Phe (Ensembl:ENST00000304710) - c.137G>T (Ensembl:ENST00000304710) Source type: large scale study | |||||||
VAR_002208 rs1799841 | 46 | C>R | 45% of the population (UniProt) | Benign (UniProt) | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Somatic: No Accession: NC_000020.11:g.23879541A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879541A>G Locations: - p.Cys46Arg (UniProt:P28325) Source type: mixed Cross-references: | |||||||
rs1799841 | 46 | C>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000020.11:g.23879541A>T Codon: TGT/AGT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879541A>T Locations: - p.Cys46Ser (Ensembl:ENST00000304710) - c.136T>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs777095406 | 46 | C>Y | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.23879540C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879540C>T Locations: - p.Cys46Tyr (Ensembl:ENST00000304710) - c.137G>A (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1413344790 | 47 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879538C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879538C>T Locations: - p.Ala47Thr (Ensembl:ENST00000304710) - c.139G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1986038452 | 48 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879534A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879534A>C Locations: - p.Leu48Arg (Ensembl:ENST00000304710) - c.143T>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1986038492 | 48 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.61) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000020.11:g.23879535G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879535G>C Locations: - p.Leu48Val (Ensembl:ENST00000304710) - c.142C>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs747806618 | 49 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.863) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879532C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879532C>A Locations: - p.Asp49Tyr (Ensembl:ENST00000304710) - c.145G>T (Ensembl:ENST00000304710) Source type: large scale study | |||||||
COSV59014749 | 50 | F>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.877) - SIFT: tolerated (0.11) Somatic: Yes Accession: NC_000020.11:g.23879528A>T Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879528A>T Locations: - c.149T>A (NCI-TCGA:ENST00000304710) - p.F50Y (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs576490237 | 51 | A>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.449) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879525G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879525G>A Locations: - p.Ala51Val (Ensembl:ENST00000304710) - c.152C>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV100489669 COSV100489669,COSV59014590 COSV59014590 | 52 | I>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23879523T>A Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879523T>A Locations: - c.154A>T (NCI-TCGA:ENST00000304710) - p.I52F (NCI-TCGA:ENST00000304710) Source type: large scale study | |||||||
rs202048792 | 52 | I>M | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.885) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000020.11:g.23879521G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879521G>C Locations: - p.Ile52Met (Ensembl:ENST00000304710) - c.156C>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1051801256 | 52 | I>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.23879522A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879522A>G Locations: - p.Ile52Thr (Ensembl:ENST00000304710) - c.155T>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs2122214048 | 52 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.098) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000020.11:g.23879523T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879523T>C Locations: - p.Ile52Val (Ensembl:ENST00000304710) - c.154A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1600457808 | 53 | S>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000020.11:g.23879520T>C Codon: AGC/GGC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879520T>C Locations: - p.Ser53Gly (Ensembl:ENST00000304710) - c.157A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs572425129 | 53 | S>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000020.11:g.23879518G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879518G>T Locations: - p.Ser53Arg (Ensembl:ENST00000304710) - c.159C>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs139269433 | 54 | E>* | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.23879517C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879517C>A Locations: - p.Glu54Ter (Ensembl:ENST00000304710) - c.160G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs767253328 | 54 | E>A | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.23879516T>G Codon: GAG/GCG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879516T>G Locations: - p.Glu54Ala (Ensembl:ENST00000304710) - c.161A>C (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs139269433 | 54 | E>K | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.727) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000020.11:g.23879517C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879517C>T Locations: - p.Glu54Lys (Ensembl:ENST00000304710) - c.160G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1568570168 | 55 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879513T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879513T>C Locations: - p.Tyr55Cys (Ensembl:ENST00000304710) - c.164A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1986037640 | 56 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879511T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879511T>G Locations: - p.Asn56His (Ensembl:ENST00000304710) - c.166A>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV100489580 | 56 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000020.11:g.23879509G>T Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879509G>T Locations: - c.168C>A (NCI-TCGA:ENST00000304710) - p.N56K (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1341689626 | 57 | K>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.23879508T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879508T>A Locations: - p.Lys57Ter (Ensembl:ENST00000304710) - c.169A>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs751792054 | 58 | V>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879505C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879505C>A Locations: - p.Val58Phe (Ensembl:ENST00000304710) - c.172G>T (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs764360778 | 58 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000020.11:g.23879504A>C Codon: GTC/GGC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879504A>C Locations: - p.Val58Gly (Ensembl:ENST00000304710) - c.173T>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs751792054 | 58 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23879505C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879505C>T Locations: - p.Val58Ile (Ensembl:ENST00000304710) - c.172G>A (Ensembl:ENST00000304710) Source type: large scale study | |||||||
COSV100489620 | 59 | I>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.783) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000020.11:g.23879502T>A Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879502T>A Locations: - c.175A>T (NCI-TCGA:ENST00000304710) - p.I59F (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV100489620 rs1258769574 | 59 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.174) - SIFT: deleterious (0.01) - PolyPhen: benign (0.334) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003981 (gnomAD) Accession: NC_000020.11:g.23879502T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879502T>C Locations: - p.I59V (NCI-TCGA:ENST00000304710) - p.Ile59Val (Ensembl:ENST00000304710) - c.175A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs762951983 | 60 | N>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000020.11:g.23879498T>G Codon: AAT/ACT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879498T>G Locations: - p.Asn60Thr (Ensembl:ENST00000304710) - c.179A>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV100489700 rs1315945258 | 61 | K>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000003983 (gnomAD) Accession: NC_000020.11:g.23879496T>A Codon: AAG/TAG Consequence type: stop gained Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879496T>A Locations: - p.K61* (NCI-TCGA:ENST00000304710) - p.Lys61Ter (Ensembl:ENST00000304710) - c.181A>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV59013785 | 61 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.54) Somatic: Yes Accession: NC_000020.11:g.23879494C>A Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879494C>A Locations: - c.183G>T (NCI-TCGA:ENST00000304710) - p.K61N (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1228619033 | 62 | D>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879492T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879492T>C Locations: - p.Asp62Gly (Ensembl:ENST00000304710) - c.185A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1257216384 | 62 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879493C>G Codon: GAT/CAT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879493C>G Locations: - p.Asp62His (Ensembl:ENST00000304710) - c.184G>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV59014953 rs1257216384 | 62 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000003985 (gnomAD) Accession: NC_000020.11:g.23879493C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879493C>T Locations: - p.D62N (NCI-TCGA:ENST00000304710) - p.Asp62Asn (Ensembl:ENST00000304710) - c.184G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1228619033 | 62 | D>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879492T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879492T>A Locations: - p.Asp62Val (Ensembl:ENST00000304710) - c.185A>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1380899718 | 63 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.94) Somatic: No Accession: NC_000020.11:g.23879490C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879490C>T Locations: - p.Glu63Lys (Ensembl:ENST00000304710) - c.187G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs145773417 | 64 | Y>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879486T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879486T>C Locations: - p.Tyr64Cys (Ensembl:ENST00000304710) - c.191A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1986036736 | 65 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.501) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.23879484A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879484A>G Locations: - p.Tyr65His (Ensembl:ENST00000304710) - c.193T>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs376468322 | 66 | S>N | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.89) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23879480C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879480C>T Locations: - p.Ser66Asn (Ensembl:ENST00000304710) - c.197G>A (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs760070122 | 66 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.557) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000020.11:g.23879481T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879481T>G Locations: - p.Ser66Arg (Ensembl:ENST00000304710) - c.196A>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs569938827 | 67 | R>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.23879478G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879478G>A Locations: - p.Arg67Cys (Ensembl:ENST00000304710) - c.199C>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV59013838 rs771464838 | 67 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.881) - SIFT: deleterious (0.04) - PolyPhen: probably damaging (0.943) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.00002 (gnomAD) Accession: NC_000020.11:g.23879477C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879477C>T Locations: - p.R67H (NCI-TCGA:ENST00000304710) - p.Arg67His (Ensembl:ENST00000304710) - c.200G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs771464838 | 67 | R>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.23879477C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879477C>A Locations: - p.Arg67Leu (Ensembl:ENST00000304710) - c.200G>T (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs569938827 | 67 | R>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23879478G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879478G>T Locations: - p.Arg67Ser (Ensembl:ENST00000304710) - c.199C>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs773934029 | 68 | P>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.756) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.23879475G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879475G>A Locations: - p.Pro68Ser (Ensembl:ENST00000304710) - c.202C>T (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs773934029 | 68 | P>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.103) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000020.11:g.23879475G>T Codon: CCT/ACT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879475G>T Locations: - p.Pro68Thr (Ensembl:ENST00000304710) - c.202C>A (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1406252948 | 69 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.725) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23879471A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879471A>G Locations: - p.Leu69Pro (Ensembl:ENST00000304710) - c.206T>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1416406971 | 70 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000004005 (gnomAD) Accession: NC_000020.11:g.23879467C>A Codon: CAG/CAT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879467C>A Locations: - p.Q70H (NCI-TCGA:ENST00000304710) - p.Gln70His (Ensembl:ENST00000304710) - c.210G>T (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1190872090 | 70 | Q>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.232) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000020.11:g.23879469G>T Codon: CAG/AAG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879469G>T Locations: - p.Gln70Lys (Ensembl:ENST00000304710) - c.208C>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1472573975 | 71 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.23879465A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879465A>G Locations: - p.Val71Ala (Ensembl:ENST00000304710) - c.212T>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs539756859 | 71 | V>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.486) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000020.11:g.23879466C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879466C>A Locations: - p.Val71Leu (Ensembl:ENST00000304710) - c.211G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs539756859 | 71 | V>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879466C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879466C>T Locations: - p.Val71Met (Ensembl:ENST00000304710) - c.211G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs745843039 | 72 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000020.11:g.23879461C>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879461C>A Locations: - p.Met72Ile (Ensembl:ENST00000304710) - c.216G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs769748402 | 72 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.835) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23879462A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879462A>G Locations: - p.Met72Thr (Ensembl:ENST00000304710) - c.215T>C (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1257267678 | 73 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000020.11:g.23879460C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879460C>A Locations: - p.Ala73Ser (Ensembl:ENST00000304710) - c.217G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1986035423 | 75 | Y>F | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.154) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.23879453T>A Codon: TAC/TTC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879453T>A Locations: - p.Tyr75Phe (Ensembl:ENST00000304710) - c.224A>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs781100267 | 77 | Q>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.936) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23879448G>C Codon: CAG/GAG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23879448G>C Locations: - p.Gln77Glu (Ensembl:ENST00000304710) - c.229C>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV59014341 rs913615087 rs913615087,COSV59014341 | 78 | I>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP | |||
Consequence: - Somatic: No Accession: NC_000020.11:g.23877616G>A Consequence type: - Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877616G>A Locations: - c.234C>T (NCI-TCGA:ENST00000304710) - p.I78= (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs750778946 | 78 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.719) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000020.11:g.23877617A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877617A>G Locations: - p.Ile78Thr (Ensembl:ENST00000304710) - c.233T>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs144164912 | 79 | V>L | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.731) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877615C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877615C>G Locations: - p.Val79Leu (Ensembl:ENST00000304710) - c.235G>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs144164912 | 79 | V>M | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877615C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877615C>T Locations: - p.Val79Met (Ensembl:ENST00000304710) - c.235G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs775178646 | 80 | G>A | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.23877611C>G Codon: GGT/GCT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877611C>G Locations: - p.Gly80Ala (Ensembl:ENST00000304710) - c.239G>C (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs775178646 | 80 | G>V | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877611C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877611C>A Locations: - p.Gly80Val (Ensembl:ENST00000304710) - c.239G>T (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1194777779 | 81 | G>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.23877608C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877608C>G Locations: - p.Gly81Ala (Ensembl:ENST00000304710) - c.242G>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV100489725 COSV100489725,COSV59014386 COSV59014386 | 81 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.23877608C>T Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877608C>T Locations: - c.242G>A (NCI-TCGA:ENST00000304710) - p.G81E (NCI-TCGA:ENST00000304710) Source type: large scale study | |||||||
rs1985993929 | 81 | G>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.23877609C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877609C>T Locations: - p.Gly81Arg (Ensembl:ENST00000304710) - c.241G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
TCGA novel | 82 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.861) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.23877605A>G Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877605A>G Locations: - c.245T>C (NCI-TCGA:ENST00000304710) - p.V82A (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1985993645 | 82 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000020.11:g.23877606C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877606C>A Locations: - p.Val82Leu (Ensembl:ENST00000304710) - c.244G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs759047136 | 83 | N>H | Variant of uncertain significance (Ensembl) | ExAC TOPMed | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23877603T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877603T>G Locations: - p.Asn83His (Ensembl:ENST00000304710) - c.247A>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1341571838 | 83 | N>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.23877602T>A Codon: AAC/ATC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877602T>A Locations: - p.Asn83Ile (Ensembl:ENST00000304710) - c.248A>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs776078785 | 84 | Y>* | ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.23877598G>T, NC_000020.11:g.23877598G>C Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877598G>T, NC_000020.11:g.23877598G>C Locations: - p.Tyr84Ter (Ensembl:ENST00000304710) - c.252C>A (Ensembl:ENST00000304710) - c.252C>G (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs142729279 | 85 | Y>* | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.23877595G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877595G>T Locations: - p.Tyr85Ter (Ensembl:ENST00000304710) - c.255C>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs747015475 | 85 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877596T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877596T>C Locations: - p.Tyr85Cys (Ensembl:ENST00000304710) - c.254A>G (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs770795424 | 85 | Y>H | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23877597A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877597A>G Locations: - p.Tyr85His (Ensembl:ENST00000304710) - c.253T>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs770795424 | 85 | Y>N | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.927) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877597A>T Codon: TAC/AAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877597A>T Locations: - p.Tyr85Asn (Ensembl:ENST00000304710) - c.253T>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs747015475 | 85 | Y>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.23877596T>G Codon: TAC/TCC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877596T>G Locations: - p.Tyr85Ser (Ensembl:ENST00000304710) - c.254A>C (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs2122210768 | 86 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.23877592G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877592G>T Locations: - p.Phe86Leu (Ensembl:ENST00000304710) - c.258C>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1165341989 | 87 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.23877591T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877591T>C Locations: - p.Asn87Asp (Ensembl:ENST00000304710) - c.259A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs371135852 | 87 | N>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.882) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877590T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877590T>A Locations: - p.Asn87Ile (Ensembl:ENST00000304710) - c.260A>T (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs368627282 | 87 | N>K | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000020.11:g.23877589A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877589A>T Locations: - p.Asn87Lys (Ensembl:ENST00000304710) - c.261T>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs371135852 | 87 | N>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.356) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877590T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877590T>C Locations: - p.Asn87Ser (Ensembl:ENST00000304710) - c.260A>G (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs371135852 | 87 | N>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.57) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23877590T>G Codon: AAT/ACT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877590T>G Locations: - p.Asn87Thr (Ensembl:ENST00000304710) - c.260A>C (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs2122210721 | 88 | V>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877587A>T Codon: GTG/GAG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877587A>T Locations: - p.Val88Glu (Ensembl:ENST00000304710) - c.263T>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1985992357 | 88 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.281) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000020.11:g.23877588C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877588C>A Locations: - p.Val88Leu (Ensembl:ENST00000304710) - c.262G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1985992357 | 88 | V>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.879) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000020.11:g.23877588C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877588C>T Locations: - p.Val88Met (Ensembl:ENST00000304710) - c.262G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs2122210710 | 89 | K>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.888) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23877585T>G Codon: AAG/CAG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877585T>G Locations: - p.Lys89Gln (Ensembl:ENST00000304710) - c.265A>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV59014714 | 89 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.828) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000020.11:g.23877584T>G Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877584T>G Locations: - c.266A>C (NCI-TCGA:ENST00000304710) - p.K89T (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1985992163 | 90 | F>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877581A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877581A>C Locations: - p.Phe90Cys (Ensembl:ENST00000304710) - c.269T>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV100489613 | 90 | F>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000020.11:g.23877582A>T Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877582A>T Locations: - c.268T>A (NCI-TCGA:ENST00000304710) - p.F90I (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs546800201 | 90 | F>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000020.11:g.23877580G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877580G>C Locations: - p.Phe90Leu (Ensembl:ENST00000304710) - c.270C>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs755184156 | 90 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.38) Somatic: No Accession: NC_000020.11:g.23877582A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877582A>G Locations: - p.Phe90Leu (Ensembl:ENST00000304710) - c.268T>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1427569178 | 91 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.64) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877578C>T Codon: GGT/GAT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877578C>T Locations: - p.Gly91Asp (Ensembl:ENST00000304710) - c.272G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs149503666 | 91 | G>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.785) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.23877579C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877579C>T Locations: - p.Gly91Ser (Ensembl:ENST00000304710) - c.271G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1427569178 | 91 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.9) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877578C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877578C>A Locations: - p.Gly91Val (Ensembl:ENST00000304710) - c.272G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV59014286 rs572646770 rs572646770,COSV59014286 | 92 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.00002786 (gnomAD) Accession: NC_000020.11:g.23877576G>A Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877576G>A Locations: - p.R92* (NCI-TCGA:ENST00000304710) - p.Arg92Ter (Ensembl:ENST00000304710) - c.274C>T (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs572646770 | 92 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877576G>C Codon: CGA/GGA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877576G>C Locations: - p.Arg92Gly (Ensembl:ENST00000304710) - c.274C>G (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1014383129 | 92 | R>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877575C>A Codon: CGA/CTA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877575C>A Locations: - p.Arg92Leu (Ensembl:ENST00000304710) - c.275G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1014383129 | 92 | R>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877575C>G Codon: CGA/CCA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877575C>G Locations: - p.Arg92Pro (Ensembl:ENST00000304710) - c.275G>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV59014014 rs1014383129 | 92 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: deleterious (0.04) - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000020.11:g.23877575C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877575C>T Locations: - p.R92Q (NCI-TCGA:ENST00000304710) - p.Arg92Gln (Ensembl:ENST00000304710) - c.275G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1317748315 | 93 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877573T>C Codon: ACC/GCC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877573T>C Locations: - p.Thr93Ala (Ensembl:ENST00000304710) - c.277A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs897333149 | 93 | T>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877572G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877572G>T Locations: - p.Thr93Asn (Ensembl:ENST00000304710) - c.278C>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs2122210633 | 95 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877567A>G Codon: TGC/CGC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877567A>G Locations: - p.Cys95Arg (Ensembl:ENST00000304710) - c.283T>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs767894877 | 95 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877566C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877566C>T Locations: - p.Cys95Tyr (Ensembl:ENST00000304710) - c.284G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs41282292 | 96 | T>I | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877563G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877563G>A Locations: - p.Thr96Ile (Ensembl:ENST00000304710) - c.287C>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1322926768 | 96 | T>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.964) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000020.11:g.23877564T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877564T>G Locations: - p.Thr96Pro (Ensembl:ENST00000304710) - c.286A>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1319158962 | 97 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877559C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877559C>G Locations: - p.Lys97Asn (Ensembl:ENST00000304710) - c.291G>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs751850332 | 97 | K>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000020.11:g.23877560T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877560T>C Locations: - p.Lys97Arg (Ensembl:ENST00000304710) - c.290A>G (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs375298723 | 98 | S>F | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877557G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877557G>A Locations: - p.Ser98Phe (Ensembl:ENST00000304710) - c.293C>T (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1340870685 | 98 | S>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.424) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000020.11:g.23877558A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877558A>G Locations: - p.Ser98Pro (Ensembl:ENST00000304710) - c.292T>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs375298723 | 98 | S>Y | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877557G>T Codon: TCC/TAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877557G>T Locations: - p.Ser98Tyr (Ensembl:ENST00000304710) - c.293C>A (Ensembl:ENST00000304710) Source type: large scale study | |||||||
TCGA novel | 99 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.23877555G>A Consequence type: stop gained Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877555G>A Locations: - c.295C>T (NCI-TCGA:ENST00000304710) - p.Q99* (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs759139068 | 99 | Q>L | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.726) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23877554T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877554T>A Locations: - p.Gln99Leu (Ensembl:ENST00000304710) - c.296A>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs759139068 | 99 | Q>R | ExAC TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.905) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23877554T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877554T>C Locations: - p.Gln99Arg (Ensembl:ENST00000304710) - c.296A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs776243372 | 100 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000020.11:g.23877552G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877552G>C Locations: - p.Pro100Ala (Ensembl:ENST00000304710) - c.298C>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs187995048 | 101 | N>S | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.743) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.23877548T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877548T>C Locations: - p.Asn101Ser (Ensembl:ENST00000304710) - c.302A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs187995048 | 101 | N>T | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.41) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877548T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877548T>G Locations: - p.Asn101Thr (Ensembl:ENST00000304710) - c.302A>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs756118832 | 102 | L>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.23877545A>T Codon: TTG/TAG Consequence type: stop gained Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877545A>T Locations: - p.Leu102Ter (Ensembl:ENST00000304710) - c.305T>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1985990571 | 102 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.842) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.23877546A>C Codon: TTG/GTG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877546A>C Locations: - p.Leu102Val (Ensembl:ENST00000304710) - c.304T>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
TCGA novel | 102 | L>W | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000020.11:g.23877545del Consequence type: frameshift Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877545del Locations: - c.305del (NCI-TCGA:ENST00000304710) - p.L102Wfs*12 (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1985990478 | 103 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.652) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000020.11:g.23877543C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877543C>T Locations: - p.Asp103Asn (Ensembl:ENST00000304710) - c.307G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1985990428 | 103 | D>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000020.11:g.23877542T>A Codon: GAC/GTC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877542T>A Locations: - p.Asp103Val (Ensembl:ENST00000304710) - c.308A>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
TCGA novel | 104 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.868) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000020.11:g.23877538G>T Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877538G>T Locations: - c.312C>A (NCI-TCGA:ENST00000304710) - p.N104K (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1600456785 | 104 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: tolerated (0.93) Somatic: No Accession: NC_000020.11:g.23877539T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877539T>C Locations: - p.Asn104Ser (Ensembl:ENST00000304710) - c.311A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs760097321 | 104 | N>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23877540T>A Codon: AAC/TAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877540T>A Locations: - p.Asn104Tyr (Ensembl:ENST00000304710) - c.310A>T (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs771848263 | 105 | C>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877537A>C Codon: TGT/GGT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877537A>C Locations: - p.Cys105Gly (Ensembl:ENST00000304710) - c.313T>G (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs771848263 | 105 | C>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877537A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877537A>G Locations: - p.Cys105Arg (Ensembl:ENST00000304710) - c.313T>C (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1985990137 | 105 | C>W | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877535A>C Codon: TGT/TGG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877535A>C Locations: - p.Cys105Trp (Ensembl:ENST00000304710) - c.315T>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1985990189 | 105 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877536C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877536C>T Locations: - p.Cys105Tyr (Ensembl:ENST00000304710) - c.314G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs908828463 | 106 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.839) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000020.11:g.23877534G>C Codon: CCC/GCC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877534G>C Locations: - p.Pro106Ala (Ensembl:ENST00000304710) - c.316C>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
TCGA novel rs2122210491 | 106 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.72) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.655) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000020.11:g.23877533G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877533G>A Locations: - p.P106L (NCI-TCGA:ENST00000304710) - p.Pro106Leu (Ensembl:ENST00000304710) - c.317C>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV59013908 | 106 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.59) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000020.11:g.23877534G>A Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877534G>A Locations: - c.316C>T (NCI-TCGA:ENST00000304710) - p.P106S (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV59015275 | 107 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated (0.14) Somatic: Yes Accession: NC_000020.11:g.23877529G>T Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877529G>T Locations: - c.321C>A (NCI-TCGA:ENST00000304710) - p.F107L (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1568569515 | 108 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23877527T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877527T>C Locations: - p.Asn108Ser (Ensembl:ENST00000304710) - c.323A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1336127338 | 110 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.23877522G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877522G>A Locations: - p.Gln110Ter (Ensembl:ENST00000304710) - c.328C>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs747961080 | 111 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.919) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.23877519G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877519G>A Locations: - p.Pro111Ser (Ensembl:ENST00000304710) - c.331C>T (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs747961080 | 111 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.827) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877519G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877519G>T Locations: - p.Pro111Thr (Ensembl:ENST00000304710) - c.331C>A (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1467272988 | 112 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.271) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000020.11:g.23877514T>A Codon: AAA/AAT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877514T>A Locations: - p.Lys112Asn (Ensembl:ENST00000304710) - c.336A>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs2122210453 | 112 | K>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.358) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000020.11:g.23877515T>G Codon: AAA/ACA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877515T>G Locations: - p.Lys112Thr (Ensembl:ENST00000304710) - c.335A>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs368805196 | 113 | L>P | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877512A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877512A>G Locations: - p.Leu113Pro (Ensembl:ENST00000304710) - c.338T>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV100489668 COSV100489668,COSV59014080 COSV59014080 | 115 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.233) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23877505C>A Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877505C>A Locations: - c.345G>T (NCI-TCGA:ENST00000304710) - p.E115D (NCI-TCGA:ENST00000304710) Source type: large scale study | |||||||
rs1168276552 | 115 | E>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.23877507C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23877507C>T Locations: - p.Glu115Lys (Ensembl:ENST00000304710) - c.343G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1331557169 | 116 | E>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.23876271C>A Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876271C>A Locations: - p.Glu116Ter (Ensembl:ENST00000304710) - c.346G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs779763862 | 117 | E>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.23876268C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876268C>A Locations: - p.Glu117Ter (Ensembl:ENST00000304710) - c.349G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
TCGA novel | 117 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.361) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000020.11:g.23876266C>G Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876266C>G Locations: - c.351G>C (NCI-TCGA:ENST00000304710) - p.E117D (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs755682280 | 117 | E>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000020.11:g.23876267T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876267T>C Locations: - p.Glu117Gly (Ensembl:ENST00000304710) - c.350A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs779763862 | 117 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.099) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000020.11:g.23876268C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876268C>T Locations: - p.Glu117Lys (Ensembl:ENST00000304710) - c.349G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs779763862 | 117 | E>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000020.11:g.23876268C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876268C>G Locations: - p.Glu117Gln (Ensembl:ENST00000304710) - c.349G>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs755682280 | 117 | E>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000020.11:g.23876267T>A Codon: GAG/GTG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876267T>A Locations: - p.Glu117Val (Ensembl:ENST00000304710) - c.350A>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1364732459 | 118 | F>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000020.11:g.23876265A>T Codon: TTC/ATC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876265A>T Locations: - p.Phe118Ile (Ensembl:ENST00000304710) - c.352T>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs148371132 | 118 | F>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.23876263G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876263G>C Locations: - p.Phe118Leu (Ensembl:ENST00000304710) - c.354C>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
TCGA novel | 118 | F>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.832) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000020.11:g.23876264A>T Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876264A>T Locations: - c.353T>A (NCI-TCGA:ENST00000304710) - p.F118Y (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs202039216 | 119 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23876261C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876261C>T Locations: - p.Cys119Tyr (Ensembl:ENST00000304710) - c.356G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
TCGA novel | 120 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23876258G>C Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876258G>C Locations: - c.359C>G (NCI-TCGA:ENST00000304710) - p.S120C (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs767188498 | 120 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000020.11:g.23876258G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876258G>A Locations: - p.Ser120Phe (Ensembl:ENST00000304710) - c.359C>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1985959532 | 121 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23876254G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876254G>T Locations: - p.Phe121Leu (Ensembl:ENST00000304710) - c.363C>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1014790294 | 122 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.23876253G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876253G>A Locations: - p.Gln122Ter (Ensembl:ENST00000304710) - c.364C>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs200427729 | 122 | Q>R | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.333) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000020.11:g.23876252T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876252T>C Locations: - p.Gln122Arg (Ensembl:ENST00000304710) - c.365A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs751616622 | 123 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.224) - SIFT: tolerated (0.7) Somatic: No Accession: NC_000020.11:g.23876250T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876250T>C Locations: - p.Ile123Val (Ensembl:ENST00000304710) - c.367A>G (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1985959231 | 124 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.503) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23876245A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876245A>C Locations: - p.Asn124Lys (Ensembl:ENST00000304710) - c.372T>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1470095989 | 124 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.364) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23876246T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876246T>C Locations: - p.Asn124Ser (Ensembl:ENST00000304710) - c.371A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
TCGA novel | 125 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000020.11:g.23876242T>G Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876242T>G Locations: - c.375A>C (NCI-TCGA:ENST00000304710) - p.E125D (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1378651740 | 125 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.596) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000020.11:g.23876244C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876244C>T Locations: - p.Glu125Lys (Ensembl:ENST00000304710) - c.373G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs975372000 | 126 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23876240A>G Codon: GTT/GCT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876240A>G Locations: - p.Val126Ala (Ensembl:ENST00000304710) - c.377T>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs577725854 | 126 | V>F | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23876241C>A Codon: GTT/TTT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876241C>A Locations: - p.Val126Phe (Ensembl:ENST00000304710) - c.376G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV59014911 | 127 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.254) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000020.11:g.23876238G>A Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876238G>A Locations: - c.379C>T (NCI-TCGA:ENST00000304710) - p.P127S (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1985958954 | 128 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.23876234C>T Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876234C>T Locations: - p.Trp128Ter (Ensembl:ENST00000304710) - c.383G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1474673814 | 128 | W>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.886) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23876235A>G Codon: TGG/CGG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876235A>G Locations: - p.Trp128Arg (Ensembl:ENST00000304710) - c.382T>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1479693282 | 129 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: tolerated (0.51) Somatic: No Accession: NC_000020.11:g.23876230C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876230C>A Locations: - p.Glu129Asp (Ensembl:ENST00000304710) - c.387G>T (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs951815028 | 129 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.792) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000020.11:g.23876231T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876231T>C Locations: - p.Glu129Gly (Ensembl:ENST00000304710) - c.386A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1414899906 | 130 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000020.11:g.23876227A>T Codon: GAT/GAA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876227A>T Locations: - p.Asp130Glu (Ensembl:ENST00000304710) - c.390T>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1985958772 | 130 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.23876228T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876228T>C Locations: - p.Asp130Gly (Ensembl:ENST00000304710) - c.389A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV59013936 rs1268595833 | 130 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) - PolyPhen: benign (0) - SIFT: tolerated (0.98) Somatic: No Population frequencies: - MAF: 0.00001204 (gnomAD) Accession: NC_000020.11:g.23876229C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876229C>T Locations: - p.D130N (NCI-TCGA:ENST00000304710) - p.Asp130Asn (Ensembl:ENST00000304710) - c.388G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV59015008 | 131 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.067) - SIFT: tolerated (0.67) Somatic: Yes Accession: NC_000020.11:g.23876225T>G Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876225T>G Locations: - c.392A>C (NCI-TCGA:ENST00000304710) - p.K131T (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs775102122 | 131-132 | KI>LC | ExAC | ||||
Consequence: stop gained Somatic: No Accession: NC_000020.11:g.23876224_23876225insGCTGATAAACATCAGGCAATTTCACAGCACAGC Codon: AAA/AAGCTGTGCTGTGAAATTGCCTGATGTTTATCAGCA Consequence type: stop gained Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876224_23876225insGCTGATAAACATCAGGCAATTTCACAGCACAGC Locations: - p.Lys131_Ile132insLeuCysCysGluIleAlaTer (Ensembl:ENST00000304710) - c.392_393insGCTGTGCTGTGAAATTGCCTGATGTTTATCAGC (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1250513427 | 132 | I>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.947) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000020.11:g.23876222A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876222A>C Locations: - p.Ile132Ser (Ensembl:ENST00000304710) - c.395T>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV59013885 | 133 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.922) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000020.11:g.23876219G>A Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876219G>A Locations: - c.398C>T (NCI-TCGA:ENST00000304710) - p.S133F (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs149451063 | 134 | I>S | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.857) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23876216A>C Codon: ATT/AGT Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876216A>C Locations: - p.Ile134Ser (Ensembl:ENST00000304710) - c.401T>G (Ensembl:ENST00000304710) Source type: large scale study | |||||||
TCGA novel | 134 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.109) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23876216A>G Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876216A>G Locations: - c.401T>C (NCI-TCGA:ENST00000304710) - p.I134T (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV59013774 | 135 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.493) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000020.11:g.23876214G>T Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876214G>T Locations: - c.403C>A (NCI-TCGA:ENST00000304710) - p.L135M (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs775104063 | 135 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.23876214G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876214G>C Locations: - p.Leu135Val (Ensembl:ENST00000304710) - c.403C>G (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1985958413 | 136 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000020.11:g.23876210T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876210T>C Locations: - p.Asn136Ser (Ensembl:ENST00000304710) - c.407A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1985958262 | 137 | Y>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000020.11:g.23876207T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876207T>C Locations: - p.Tyr137Cys (Ensembl:ENST00000304710) - c.410A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs1327314759 | 137 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000020.11:g.23876208A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876208A>G Locations: - p.Tyr137His (Ensembl:ENST00000304710) - c.409T>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV100489740 | 137 | Y>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.36) Somatic: Yes Accession: NC_000020.11:g.23876208A>T Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876208A>T Locations: - c.409T>A (NCI-TCGA:ENST00000304710) - p.Y137N (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs137939967 | 138 | K>R | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000020.11:g.23876204T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876204T>C Locations: - p.Lys138Arg (Ensembl:ENST00000304710) - c.413A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs137939967 | 138 | K>T | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.379) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000020.11:g.23876204T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876204T>G Locations: - p.Lys138Thr (Ensembl:ENST00000304710) - c.413A>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV100489578 | 139 | C>S | 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_000020.11:g.23876201C>G Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876201C>G Locations: - c.416G>C (NCI-TCGA:ENST00000304710) - p.C139S (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs146272783 | 140 | R>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.207) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000020.11:g.23876198C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876198C>G Locations: - p.Arg140Pro (Ensembl:ENST00000304710) - c.419G>C (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs146272783 | 140 | R>Q | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.23876198C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876198C>T Locations: - p.Arg140Gln (Ensembl:ENST00000304710) - c.419G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs201737711 | 140 | R>W | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.706) - SIFT: deleterious (0) Somatic: No Accession: NC_000020.11:g.23876199G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876199G>A Locations: - p.Arg140Trp (Ensembl:ENST00000304710) - c.418C>T (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs141858159 | 141 | K>E | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (1) Somatic: No Accession: NC_000020.11:g.23876196T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876196T>C Locations: - p.Lys141Glu (Ensembl:ENST00000304710) - c.421A>G (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV100489584 | 141 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.11) Somatic: Yes Accession: NC_000020.11:g.23876194T>G Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876194T>G Locations: - c.423A>C (NCI-TCGA:ENST00000304710) - p.K141N (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: | |||||||
rs138639807 | 142 | V>A | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.312) - SIFT: tolerated (0.91) Somatic: No Accession: NC_000020.11:g.23876192A>G Codon: GTC/GCC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876192A>G Locations: - p.Val142Ala (Ensembl:ENST00000304710) - c.425T>C (Ensembl:ENST00000304710) Source type: large scale study | |||||||
rs1985957724 | 142 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000020.11:g.23876193C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876193C>T Locations: - p.Val142Ile (Ensembl:ENST00000304710) - c.424G>A (Ensembl:ENST00000304710) Source type: large scale study Cross-references: | |||||||
COSV59014114 | 142 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.26) Somatic: Yes Accession: NC_000020.11:g.23876193C>G Consequence type: missense Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876193C>G Locations: - c.424G>C (NCI-TCGA:ENST00000304710) - p.V142L (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: | |||||||
TCGA novel | 143 | *>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop retained Somatic: No Accession: NC_000020.11:g.23876188C>T Consequence type: stop retained Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876188C>T Locations: - c.429G>A (NCI-TCGA:ENST00000304710) - p.*143= (NCI-TCGA:ENST00000304710) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV59014142 COSV59014142,COSV59014330 COSV59014330 | 143 | *>L | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop lost Somatic: No Accession: NC_000020.11:g.23876189T>A Consequence type: stop lost Cytogenetic band: 20p11.21 Genomic location: NC_000020.11:g.23876189T>A Locations: - c.428A>T (NCI-TCGA:ENST00000304710) - p.*143Lext*9 (NCI-TCGA:ENST00000304710) Source type: large scale study |