Q9UHD0 · IL19_HUMAN
- ProteinInterleukin-19
- GeneIL19
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids177 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs767568537 | 4 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000001.11:g.206836673A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836673A>G Locations: - p.Gln4Arg (Ensembl:ENST00000270218) - c.11A>G (Ensembl:ENST00000270218) - p.Gln4Arg (Ensembl:ENST00000656872) - c.11A>G (Ensembl:ENST00000656872) - p.Gln4Arg (Ensembl:ENST00000659997) - c.11A>G (Ensembl:ENST00000659997) - p.Gln4Arg (Ensembl:ENST00000340758) - c.11A>G (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs969844901 | 5 | C>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000001.11:g.206836676G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836676G>A Locations: - p.Cys5Tyr (Ensembl:ENST00000340758) - c.14G>A (Ensembl:ENST00000340758) - p.Cys5Tyr (Ensembl:ENST00000270218) - c.14G>A (Ensembl:ENST00000270218) - p.Cys5Tyr (Ensembl:ENST00000656872) - c.14G>A (Ensembl:ENST00000656872) - p.Cys5Tyr (Ensembl:ENST00000659997) - c.14G>A (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
rs1352114652 | 6 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000001.11:g.206836679T>C Codon: GTT/GCT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836679T>C Locations: - p.Val6Ala (Ensembl:ENST00000270218) - c.17T>C (Ensembl:ENST00000270218) - p.Val6Ala (Ensembl:ENST00000340758) - c.17T>C (Ensembl:ENST00000340758) - p.Val6Ala (Ensembl:ENST00000656872) - c.17T>C (Ensembl:ENST00000656872) - p.Val6Ala (Ensembl:ENST00000659997) - c.17T>C (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
COSV99536223 | 7 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000001.11:g.206836682C>T Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836682C>T Locations: - p.S7F (NCI-TCGA:ENST00000270218) - p.Ser7Phe (cosmic curated:ENST00000270218) - c.20C>T (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs773086649 | 8 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.456) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000001.11:g.206836684C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836684C>T Locations: - p.Leu8Phe (Ensembl:ENST00000270218) - c.22C>T (Ensembl:ENST00000270218) - p.Leu8Phe (Ensembl:ENST00000659997) - c.22C>T (Ensembl:ENST00000659997) - p.Leu8Phe (Ensembl:ENST00000340758) - c.22C>T (Ensembl:ENST00000340758) - p.Leu8Phe (Ensembl:ENST00000656872) - c.22C>T (Ensembl:ENST00000656872) Source type: large scale study | |||||||
COSV54282837 | 10 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206836690C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206836690C>T Locations: - p.Leu10Phe (cosmic curated:ENST00000270218) - c.28C>T (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1676806893 | 12 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206836697G>A Codon: GGT/GAT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836697G>A Locations: - p.Gly12Asp (Ensembl:ENST00000270218) - c.35G>A (Ensembl:ENST00000270218) - p.Gly12Asp (Ensembl:ENST00000656872) - c.35G>A (Ensembl:ENST00000656872) - p.Gly12Asp (Ensembl:ENST00000659997) - c.35G>A (Ensembl:ENST00000659997) - p.Gly12Asp (Ensembl:ENST00000340758) - c.35G>A (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
COSV99536195 rs765338474 | 13 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) - PolyPhen: benign (0) - SIFT: tolerated (0.95) Somatic: Yes Population frequencies: - MAF: 0.000003983 (gnomAD) Accession: NC_000001.11:g.206836699A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836699A>G Locations: - p.T13A (NCI-TCGA:ENST00000270218) - p.T13A (NCI-TCGA:ENST00000659997) - p.T13A (NCI-TCGA:ENST00000656872) - p.T13A (NCI-TCGA:ENST00000340758) - p.Thr13Ala (Ensembl:ENST00000659997) - c.37A>G (Ensembl:ENST00000659997) - p.Thr13Ala (Ensembl:ENST00000340758) - c.37A>G (Ensembl:ENST00000340758) - p.Thr13Ala (Ensembl:ENST00000656872) - c.37A>G (Ensembl:ENST00000656872) - p.Thr13Ala (Ensembl:ENST00000270218) - c.37A>G (Ensembl:ENST00000270218) Source type: large scale study | |||||||
rs1676807079 | 13 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000001.11:g.206836700C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836700C>T Locations: - p.Thr13Ile (Ensembl:ENST00000270218) - c.38C>T (Ensembl:ENST00000270218) - p.Thr13Ile (Ensembl:ENST00000340758) - c.38C>T (Ensembl:ENST00000340758) - p.Thr13Ile (Ensembl:ENST00000659997) - c.38C>T (Ensembl:ENST00000659997) - p.Thr13Ile (Ensembl:ENST00000656872) - c.38C>T (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs939942811 | 16 | I>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000001.11:g.206836709T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836709T>C Locations: - p.Ile16Thr (Ensembl:ENST00000270218) - c.47T>C (Ensembl:ENST00000270218) - p.Ile16Thr (Ensembl:ENST00000659997) - c.47T>C (Ensembl:ENST00000659997) - p.Ile16Thr (Ensembl:ENST00000340758) - c.47T>C (Ensembl:ENST00000340758) - p.Ile16Thr (Ensembl:ENST00000656872) - c.47T>C (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs764147547 | 20 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000001.11:g.206836721T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836721T>C Locations: - p.Val20Ala (Ensembl:ENST00000659997) - c.59T>C (Ensembl:ENST00000659997) - p.Val20Ala (Ensembl:ENST00000270218) - c.59T>C (Ensembl:ENST00000270218) - p.Val20Ala (Ensembl:ENST00000340758) - c.59T>C (Ensembl:ENST00000340758) - p.Val20Ala (Ensembl:ENST00000656872) - c.59T>C (Ensembl:ENST00000656872) Source type: large scale study | |||||||
COSV54282747 | 20 | V>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206836720G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206836720G>A Locations: - p.Val20Ile (cosmic curated:ENST00000270218) - c.58G>A (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs763138491 COSV54284153 | 20 | V>L | ExAC gnomAD cosmic curated | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.19) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000001.11:g.206836720G>C, NC_000001.11:g.206836720G>T Codon: GTA/CTA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836720G>C, NC_000001.11:g.206836720G>T Locations: - p.Val20Leu (Ensembl:ENST00000270218) - c.58G>C (Ensembl:ENST00000270218) - p.Val20Leu (Ensembl:ENST00000656872) - c.58G>C (Ensembl:ENST00000656872) - p.Val20Leu (Ensembl:ENST00000659997) - c.58G>C (Ensembl:ENST00000659997) - p.Val20Leu (Ensembl:ENST00000340758) - c.58G>C (Ensembl:ENST00000340758) - p.Val20Leu (cosmic curated:ENST00000270218) - c.58G>T (cosmic curated:ENST00000270218) Source type: large scale study | |||||||
rs1676807751 | 21 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000001.11:g.206836723G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836723G>A Locations: - p.Asp21Asn (Ensembl:ENST00000659997) - c.61G>A (Ensembl:ENST00000659997) - p.Asp21Asn (Ensembl:ENST00000270218) - c.61G>A (Ensembl:ENST00000270218) - p.Asp21Asn (Ensembl:ENST00000340758) - c.61G>A (Ensembl:ENST00000340758) - p.Asp21Asn (Ensembl:ENST00000656872) - c.61G>A (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs757700716 | 22 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000001.11:g.206836728C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836728C>A Locations: - p.Asn22Lys (Ensembl:ENST00000656872) - c.66C>A (Ensembl:ENST00000656872) - p.Asn22Lys (Ensembl:ENST00000340758) - c.66C>A (Ensembl:ENST00000340758) - p.Asn22Lys (Ensembl:ENST00000659997) - c.66C>A (Ensembl:ENST00000659997) - p.Asn22Lys (Ensembl:ENST00000270218) - c.66C>A (Ensembl:ENST00000270218) Source type: large scale study | |||||||
rs149618619 | 22 | N>S | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000001.11:g.206836727A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836727A>G Locations: - p.Asn22Ser (Ensembl:ENST00000659997) - c.65A>G (Ensembl:ENST00000659997) - p.Asn22Ser (Ensembl:ENST00000270218) - c.65A>G (Ensembl:ENST00000270218) - p.Asn22Ser (Ensembl:ENST00000340758) - c.65A>G (Ensembl:ENST00000340758) - p.Asn22Ser (Ensembl:ENST00000656872) - c.65A>G (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs1208269897 | 23 | H>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.182) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000001.11:g.206836729C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836729C>A Locations: - p.His23Asn (Ensembl:ENST00000659997) - c.67C>A (Ensembl:ENST00000659997) - p.His23Asn (Ensembl:ENST00000656872) - c.67C>A (Ensembl:ENST00000656872) - p.His23Asn (Ensembl:ENST00000270218) - c.67C>A (Ensembl:ENST00000270218) - p.His23Asn (Ensembl:ENST00000340758) - c.67C>A (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs1208269897 | 23 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000001.11:g.206836729C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836729C>T Locations: - p.His23Tyr (Ensembl:ENST00000656872) - c.67C>T (Ensembl:ENST00000656872) - p.His23Tyr (Ensembl:ENST00000270218) - c.67C>T (Ensembl:ENST00000270218) - p.His23Tyr (Ensembl:ENST00000340758) - c.67C>T (Ensembl:ENST00000340758) - p.His23Tyr (Ensembl:ENST00000659997) - c.67C>T (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
rs367592655 | 24 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.206) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206836732G>C Codon: GGT/CGT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836732G>C Locations: - p.Gly24Arg (Ensembl:ENST00000656872) - c.70G>C (Ensembl:ENST00000656872) - p.Gly24Arg (Ensembl:ENST00000659997) - c.70G>C (Ensembl:ENST00000659997) - p.Gly24Arg (Ensembl:ENST00000270218) - c.70G>C (Ensembl:ENST00000270218) - p.Gly24Arg (Ensembl:ENST00000340758) - c.70G>C (Ensembl:ENST00000340758) Source type: large scale study | |||||||
COSV54283537 rs367592655 | 24 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.39) - PolyPhen: benign (0) - SIFT: tolerated (0.62) Somatic: Yes Population frequencies: - MAF: 0.00002387 (gnomAD) Accession: NC_000001.11:g.206836732G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836732G>A Locations: - p.G24S (NCI-TCGA:ENST00000270218) - p.G24S (NCI-TCGA:ENST00000659997) - p.G24S (NCI-TCGA:ENST00000656872) - p.G24S (NCI-TCGA:ENST00000340758) - p.Gly24Ser (Ensembl:ENST00000659997) - c.70G>A (Ensembl:ENST00000659997) - p.Gly24Ser (Ensembl:ENST00000270218) - c.70G>A (Ensembl:ENST00000270218) - p.Gly24Ser (Ensembl:ENST00000340758) - c.70G>A (Ensembl:ENST00000340758) - p.Gly24Ser (Ensembl:ENST00000656872) - c.70G>A (Ensembl:ENST00000656872) Source type: large scale study | |||||||
rs964941980 | 26 | R>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.287) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000001.11:g.206836739G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836739G>A Locations: - p.Arg26Lys (Ensembl:ENST00000656872) - c.77G>A (Ensembl:ENST00000656872) - p.Arg26Lys (Ensembl:ENST00000340758) - c.77G>A (Ensembl:ENST00000340758) - p.Arg26Lys (Ensembl:ENST00000659997) - c.77G>A (Ensembl:ENST00000659997) - p.Arg26Lys (Ensembl:ENST00000270218) - c.77G>A (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1188043051 | 28 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206836744T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836744T>C Locations: - p.Cys28Arg (Ensembl:ENST00000659997) - c.82T>C (Ensembl:ENST00000659997) - p.Cys28Arg (Ensembl:ENST00000270218) - c.82T>C (Ensembl:ENST00000270218) - p.Cys28Arg (Ensembl:ENST00000340758) - c.82T>C (Ensembl:ENST00000340758) - p.Cys28Arg (Ensembl:ENST00000656872) - c.82T>C (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
COSV54284955 | 30 | I>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206836752T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206836752T>G Locations: - p.Ile30Met (cosmic curated:ENST00000270218) - c.90T>G (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1210811175 | 34 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000001.11:g.206836764G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836764G>T Locations: - p.Met34Ile (Ensembl:ENST00000656872) - c.102G>T (Ensembl:ENST00000656872) - p.Met34Ile (Ensembl:ENST00000270218) - c.102G>T (Ensembl:ENST00000270218) - p.Met34Ile (Ensembl:ENST00000340758) - c.102G>T (Ensembl:ENST00000340758) - p.Met34Ile (Ensembl:ENST00000659997) - c.102G>T (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
rs1246663052 | 34 | M>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.088) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000001.11:g.206836762A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836762A>G Locations: - p.Met34Val (Ensembl:ENST00000270218) - c.100A>G (Ensembl:ENST00000270218) - p.Met34Val (Ensembl:ENST00000340758) - c.100A>G (Ensembl:ENST00000340758) - p.Met34Val (Ensembl:ENST00000656872) - c.100A>G (Ensembl:ENST00000656872) - p.Met34Val (Ensembl:ENST00000659997) - c.100A>G (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
rs756467423 | 35 | H>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.35) Somatic: No Accession: NC_000001.11:g.206836765C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836765C>T Locations: - p.His35Tyr (Ensembl:ENST00000659997) - c.103C>T (Ensembl:ENST00000659997) - p.His35Tyr (Ensembl:ENST00000270218) - c.103C>T (Ensembl:ENST00000270218) - p.His35Tyr (Ensembl:ENST00000340758) - c.103C>T (Ensembl:ENST00000340758) - p.His35Tyr (Ensembl:ENST00000656872) - c.103C>T (Ensembl:ENST00000656872) Source type: large scale study | |||||||
rs780330874 | 36 | H>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000001.11:g.206836769A>T Codon: CAT/CTT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836769A>T Locations: - p.His36Leu (Ensembl:ENST00000656872) - c.107A>T (Ensembl:ENST00000656872) - p.His36Leu (Ensembl:ENST00000340758) - c.107A>T (Ensembl:ENST00000340758) - p.His36Leu (Ensembl:ENST00000659997) - c.107A>T (Ensembl:ENST00000659997) - p.His36Leu (Ensembl:ENST00000270218) - c.107A>T (Ensembl:ENST00000270218) Source type: large scale study | |||||||
rs780330874 | 36 | H>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000001.11:g.206836769A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836769A>G Locations: - p.His36Arg (Ensembl:ENST00000656872) - c.107A>G (Ensembl:ENST00000656872) - p.His36Arg (Ensembl:ENST00000659997) - c.107A>G (Ensembl:ENST00000659997) - p.His36Arg (Ensembl:ENST00000270218) - c.107A>G (Ensembl:ENST00000270218) - p.His36Arg (Ensembl:ENST00000340758) - c.107A>G (Ensembl:ENST00000340758) Source type: large scale study | |||||||
rs1676809648 | 37 | I>M | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.483) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000001.11:g.206836773A>G Codon: ATA/ATG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836773A>G Locations: - p.Ile37Met (Ensembl:ENST00000340758) - c.111A>G (Ensembl:ENST00000340758) - p.Ile37Met (Ensembl:ENST00000656872) - c.111A>G (Ensembl:ENST00000656872) - p.Ile37Met (Ensembl:ENST00000270218) - c.111A>G (Ensembl:ENST00000270218) - p.Ile37Met (Ensembl:ENST00000659997) - c.111A>G (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
COSV99536453 rs889563743 | 37 | I>T | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.839) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.206836772T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836772T>C Locations: - p.Ile37Thr (Ensembl:ENST00000270218) - c.110T>C (Ensembl:ENST00000270218) - p.Ile37Thr (Ensembl:ENST00000659997) - c.110T>C (Ensembl:ENST00000659997) - p.Ile37Thr (Ensembl:ENST00000656872) - c.110T>C (Ensembl:ENST00000656872) - p.Ile37Thr (Ensembl:ENST00000340758) - c.110T>C (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs1049492794 | 37 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.22) Somatic: No Accession: NC_000001.11:g.206836771A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836771A>G Locations: - p.Ile37Val (Ensembl:ENST00000656872) - c.109A>G (Ensembl:ENST00000656872) - p.Ile37Val (Ensembl:ENST00000340758) - c.109A>G (Ensembl:ENST00000340758) - p.Ile37Val (Ensembl:ENST00000270218) - c.109A>G (Ensembl:ENST00000270218) - p.Ile37Val (Ensembl:ENST00000659997) - c.109A>G (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
rs1676809774 | 38 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000001.11:g.206836774G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836774G>C Locations: - p.Glu38Gln (Ensembl:ENST00000659997) - c.112G>C (Ensembl:ENST00000659997) - p.Glu38Gln (Ensembl:ENST00000340758) - c.112G>C (Ensembl:ENST00000340758) - p.Glu38Gln (Ensembl:ENST00000270218) - c.112G>C (Ensembl:ENST00000270218) - p.Glu38Gln (Ensembl:ENST00000656872) - c.112G>C (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs1676809883 | 39 | E>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000001.11:g.206836779G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836779G>C Locations: - p.Glu39Asp (Ensembl:ENST00000340758) - c.117G>C (Ensembl:ENST00000340758) - p.Glu39Asp (Ensembl:ENST00000659997) - c.117G>C (Ensembl:ENST00000659997) - p.Glu39Asp (Ensembl:ENST00000270218) - c.117G>C (Ensembl:ENST00000270218) - p.Glu39Asp (Ensembl:ENST00000656872) - c.117G>C (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs748956924 | 40 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.665) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.206836780A>T Codon: AGT/TGT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836780A>T Locations: - p.Ser40Cys (Ensembl:ENST00000656872) - c.118A>T (Ensembl:ENST00000656872) - p.Ser40Cys (Ensembl:ENST00000659997) - c.118A>T (Ensembl:ENST00000659997) - p.Ser40Cys (Ensembl:ENST00000270218) - c.118A>T (Ensembl:ENST00000270218) - p.Ser40Cys (Ensembl:ENST00000340758) - c.118A>T (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs2102487974 | 42 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.206836786C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836786C>T Locations: - p.Gln42Ter (Ensembl:ENST00000270218) - c.124C>T (Ensembl:ENST00000270218) - p.Gln42Ter (Ensembl:ENST00000656872) - c.124C>T (Ensembl:ENST00000656872) - p.Gln42Ter (Ensembl:ENST00000340758) - c.124C>T (Ensembl:ENST00000340758) - p.Gln42Ter (Ensembl:ENST00000659997) - c.124C>T (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
COSV54283830 | 43 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206836789G>T Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836789G>T Locations: - p.E43* (NCI-TCGA:ENST00000270218) - p.Glu43Ter (cosmic curated:ENST00000270218) - c.127G>T (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs768258791 | 45 | K>E | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.487) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206836795A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836795A>G Locations: - p.Lys45Glu (Ensembl:ENST00000656872) - c.133A>G (Ensembl:ENST00000656872) - p.Lys45Glu (Ensembl:ENST00000659997) - c.133A>G (Ensembl:ENST00000659997) - p.Lys45Glu (Ensembl:ENST00000340758) - c.133A>G (Ensembl:ENST00000340758) - p.Lys45Glu (Ensembl:ENST00000270218) - c.133A>G (Ensembl:ENST00000270218) Source type: large scale study | |||||||
TCGA novel | 45 | K>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206836796A>T Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836796A>T Locations: - c.134A>T (NCI-TCGA:ENST00000270218) - p.K45I (NCI-TCGA:ENST00000270218) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs775582029 | 46 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.85) Somatic: No Accession: NC_000001.11:g.206836799G>A Codon: AGA/AAA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836799G>A Locations: - p.Arg46Lys (Ensembl:ENST00000340758) - c.137G>A (Ensembl:ENST00000340758) - p.Arg46Lys (Ensembl:ENST00000270218) - c.137G>A (Ensembl:ENST00000270218) - p.Arg46Lys (Ensembl:ENST00000656872) - c.137G>A (Ensembl:ENST00000656872) - p.Arg46Lys (Ensembl:ENST00000659997) - c.137G>A (Ensembl:ENST00000659997) Source type: large scale study | |||||||
rs775582029 | 46 | R>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000001.11:g.206836799G>C Codon: AGA/ACA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836799G>C Locations: - p.Arg46Thr (Ensembl:ENST00000270218) - c.137G>C (Ensembl:ENST00000270218) - p.Arg46Thr (Ensembl:ENST00000340758) - c.137G>C (Ensembl:ENST00000340758) - p.Arg46Thr (Ensembl:ENST00000656872) - c.137G>C (Ensembl:ENST00000656872) - p.Arg46Thr (Ensembl:ENST00000659997) - c.137G>C (Ensembl:ENST00000659997) Source type: large scale study | |||||||
COSV54283472 | 47 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206836801G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206836801G>A Locations: - p.Ala47Thr (cosmic curated:ENST00000270218) - c.139G>A (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs760571248 | 48 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.457) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.206836806C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836806C>G Locations: - p.Ile48Met (Ensembl:ENST00000659997) - c.144C>G (Ensembl:ENST00000659997) - p.Ile48Met (Ensembl:ENST00000270218) - c.144C>G (Ensembl:ENST00000270218) - p.Ile48Met (Ensembl:ENST00000340758) - c.144C>G (Ensembl:ENST00000340758) - p.Ile48Met (Ensembl:ENST00000656872) - c.144C>G (Ensembl:ENST00000656872) Source type: large scale study | |||||||
rs372374877 | 48 | I>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000001.11:g.206836805T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836805T>C Locations: - p.Ile48Thr (Ensembl:ENST00000659997) - c.143T>C (Ensembl:ENST00000659997) - p.Ile48Thr (Ensembl:ENST00000270218) - c.143T>C (Ensembl:ENST00000270218) - p.Ile48Thr (Ensembl:ENST00000340758) - c.143T>C (Ensembl:ENST00000340758) - p.Ile48Thr (Ensembl:ENST00000656872) - c.143T>C (Ensembl:ENST00000656872) Source type: large scale study | |||||||
COSV105040943 | 51 | K>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206836964A>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206836964A>T Locations: - p.Lys51Ter (cosmic curated:ENST00000270218) - c.151A>T (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
COSV54284933 | 52 | D>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206836968A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206836968A>G Locations: - p.Asp52Gly (cosmic curated:ENST00000270218) - c.155A>G (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs768824076 | 53 | T>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.118) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000001.11:g.206836971C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836971C>T Locations: - p.Thr53Ile (Ensembl:ENST00000340758) - c.158C>T (Ensembl:ENST00000340758) - p.Thr53Ile (Ensembl:ENST00000270218) - c.158C>T (Ensembl:ENST00000270218) - p.Thr53Ile (Ensembl:ENST00000656872) - c.158C>T (Ensembl:ENST00000656872) - p.Thr53Ile (Ensembl:ENST00000659997) - c.158C>T (Ensembl:ENST00000659997) Source type: large scale study | |||||||
rs774520871 | 54 | F>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.206836974T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836974T>C Locations: - p.Phe54Ser (Ensembl:ENST00000656872) - c.161T>C (Ensembl:ENST00000656872) - p.Phe54Ser (Ensembl:ENST00000340758) - c.161T>C (Ensembl:ENST00000340758) - p.Phe54Ser (Ensembl:ENST00000270218) - c.161T>C (Ensembl:ENST00000270218) - p.Phe54Ser (Ensembl:ENST00000659997) - c.161T>C (Ensembl:ENST00000659997) Source type: large scale study | |||||||
rs762068047 | 55 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000001.11:g.206836977C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836977C>T Locations: - p.Pro55Leu (Ensembl:ENST00000340758) - c.164C>T (Ensembl:ENST00000340758) - p.Pro55Leu (Ensembl:ENST00000659997) - c.164C>T (Ensembl:ENST00000659997) - p.Pro55Leu (Ensembl:ENST00000656872) - c.164C>T (Ensembl:ENST00000656872) - p.Pro55Leu (Ensembl:ENST00000270218) - c.164C>T (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
TCGA novel | 56 | N>M | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000001.11:g.206836978del Consequence type: frameshift Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836978del Locations: - c.167del (NCI-TCGA:ENST00000270218) - p.N56Mfs*17 (NCI-TCGA:ENST00000270218) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1676817258 | 57 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000001.11:g.206836982G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836982G>A Locations: - p.Val57Ile (Ensembl:ENST00000656872) - c.169G>A (Ensembl:ENST00000656872) - p.Val57Ile (Ensembl:ENST00000270218) - c.169G>A (Ensembl:ENST00000270218) - p.Val57Ile (Ensembl:ENST00000340758) - c.169G>A (Ensembl:ENST00000340758) - p.Val57Ile (Ensembl:ENST00000659997) - c.169G>A (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
rs971439710 | 58 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000001.11:g.206836986C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836986C>T Locations: - p.Thr58Ile (Ensembl:ENST00000659997) - c.173C>T (Ensembl:ENST00000659997) - p.Thr58Ile (Ensembl:ENST00000340758) - c.173C>T (Ensembl:ENST00000340758) - p.Thr58Ile (Ensembl:ENST00000656872) - c.173C>T (Ensembl:ENST00000656872) - p.Thr58Ile (Ensembl:ENST00000270218) - c.173C>T (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs773232254 | 59 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.931) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.206836990C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836990C>G Locations: - p.Ile59Met (Ensembl:ENST00000656872) - c.177C>G (Ensembl:ENST00000656872) - p.Ile59Met (Ensembl:ENST00000270218) - c.177C>G (Ensembl:ENST00000270218) - p.Ile59Met (Ensembl:ENST00000659997) - c.177C>G (Ensembl:ENST00000659997) - p.Ile59Met (Ensembl:ENST00000340758) - c.177C>G (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs1284718462 | 59 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000001.11:g.206836988A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836988A>G Locations: - p.Ile59Val (Ensembl:ENST00000270218) - c.175A>G (Ensembl:ENST00000270218) - p.Ile59Val (Ensembl:ENST00000659997) - c.175A>G (Ensembl:ENST00000659997) - p.Ile59Val (Ensembl:ENST00000656872) - c.175A>G (Ensembl:ENST00000656872) - p.Ile59Val (Ensembl:ENST00000340758) - c.175A>G (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs1676818562 | 62 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000001.11:g.206836997A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206836997A>G Locations: - p.Thr62Ala (Ensembl:ENST00000270218) - c.184A>G (Ensembl:ENST00000270218) - p.Thr62Ala (Ensembl:ENST00000340758) - c.184A>G (Ensembl:ENST00000340758) - p.Thr62Ala (Ensembl:ENST00000656872) - c.184A>G (Ensembl:ENST00000656872) - p.Thr62Ala (Ensembl:ENST00000659997) - c.184A>G (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
rs1676819038 | 63 | L>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.206837001T>G Codon: TTG/TGG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206837001T>G Locations: - p.Leu63Trp (Ensembl:ENST00000270218) - c.188T>G (Ensembl:ENST00000270218) - p.Leu63Trp (Ensembl:ENST00000656872) - c.188T>G (Ensembl:ENST00000656872) - p.Leu63Trp (Ensembl:ENST00000340758) - c.188T>G (Ensembl:ENST00000340758) - p.Leu63Trp (Ensembl:ENST00000659997) - c.188T>G (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
COSV99536536 | 64 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206837004A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206837004A>G Locations: - p.Glu64Gly (cosmic curated:ENST00000270218) - c.191A>G (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1402542805 | 65 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000001.11:g.206837007C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206837007C>T Locations: - p.Thr65Ile (Ensembl:ENST00000270218) - c.194C>T (Ensembl:ENST00000270218) - p.Thr65Ile (Ensembl:ENST00000656872) - c.194C>T (Ensembl:ENST00000656872) - p.Thr65Ile (Ensembl:ENST00000659997) - c.194C>T (Ensembl:ENST00000659997) - p.Thr65Ile (Ensembl:ENST00000340758) - c.194C>T (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
COSV54284435 | 66 | L>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206837010T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206837010T>C Locations: - p.Leu66Pro (cosmic curated:ENST00000270218) - c.197T>C (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1676819280 | 66 | L>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206837010T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206837010T>A Locations: - p.Leu66Gln (Ensembl:ENST00000270218) - c.197T>A (Ensembl:ENST00000270218) - p.Leu66Gln (Ensembl:ENST00000656872) - c.197T>A (Ensembl:ENST00000656872) - p.Leu66Gln (Ensembl:ENST00000340758) - c.197T>A (Ensembl:ENST00000340758) - p.Leu66Gln (Ensembl:ENST00000659997) - c.197T>A (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
COSV54284621 | 67 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.72) Somatic: Yes Accession: NC_000001.11:g.206837014G>T Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206837014G>T Locations: - p.Q67H (NCI-TCGA:ENST00000270218) - p.Gln67His (cosmic curated:ENST00000270218) - c.201G>T (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1369883846 | 68 | I>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000001.11:g.206837016T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206837016T>A Locations: - p.Ile68Asn (Ensembl:ENST00000270218) - c.203T>A (Ensembl:ENST00000270218) - p.Ile68Asn (Ensembl:ENST00000340758) - c.203T>A (Ensembl:ENST00000340758) - p.Ile68Asn (Ensembl:ENST00000656872) - c.203T>A (Ensembl:ENST00000656872) - p.Ile68Asn (Ensembl:ENST00000659997) - c.203T>A (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
COSV54283896 | 68 | I>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206837016T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206837016T>C Locations: - p.Ile68Thr (cosmic curated:ENST00000270218) - c.203T>C (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1430305681 | 70 | K>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.448) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000001.11:g.206837023G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206837023G>C Locations: - p.Lys70Asn (Ensembl:ENST00000340758) - c.210G>C (Ensembl:ENST00000340758) - p.Lys70Asn (Ensembl:ENST00000270218) - c.210G>C (Ensembl:ENST00000270218) - p.Lys70Asn (Ensembl:ENST00000656872) - c.210G>C (Ensembl:ENST00000656872) - p.Lys70Asn (Ensembl:ENST00000659997) - c.210G>C (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
COSV105040955 | 71 | P>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206839851C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206839851C>T Locations: - p.Pro71Leu (cosmic curated:ENST00000270218) - c.212C>T (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
COSV54283059 rs776974605 | 71 | P>S | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.257) - SIFT: tolerated (0.5) Somatic: Yes Accession: NC_000001.11:g.206839850C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839850C>T Locations: - p.Pro71Ser (Ensembl:ENST00000340758) - c.211C>T (Ensembl:ENST00000340758) - p.Pro71Ser (Ensembl:ENST00000270218) - c.211C>T (Ensembl:ENST00000270218) - p.Pro71Ser (Ensembl:ENST00000659997) - c.211C>T (Ensembl:ENST00000659997) - p.Pro71Ser (Ensembl:ENST00000656872) - c.211C>T (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs776974605 | 71 | P>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000001.11:g.206839850C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839850C>A Locations: - p.Pro71Thr (Ensembl:ENST00000270218) - c.211C>A (Ensembl:ENST00000270218) - p.Pro71Thr (Ensembl:ENST00000656872) - c.211C>A (Ensembl:ENST00000656872) - p.Pro71Thr (Ensembl:ENST00000659997) - c.211C>A (Ensembl:ENST00000659997) - p.Pro71Thr (Ensembl:ENST00000340758) - c.211C>A (Ensembl:ENST00000340758) Source type: large scale study | |||||||
rs1396823913 | 72 | L>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.86) Somatic: No Accession: NC_000001.11:g.206839854T>C Codon: TTA/TCA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839854T>C Locations: - p.Leu72Ser (Ensembl:ENST00000659997) - c.215T>C (Ensembl:ENST00000659997) - p.Leu72Ser (Ensembl:ENST00000656872) - c.215T>C (Ensembl:ENST00000656872) - p.Leu72Ser (Ensembl:ENST00000340758) - c.215T>C (Ensembl:ENST00000340758) - p.Leu72Ser (Ensembl:ENST00000270218) - c.215T>C (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs760170467 | 73 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000001.11:g.206839858T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839858T>A Locations: - p.Asp73Glu (Ensembl:ENST00000656872) - c.219T>A (Ensembl:ENST00000656872) - p.Asp73Glu (Ensembl:ENST00000270218) - c.219T>A (Ensembl:ENST00000270218) - p.Asp73Glu (Ensembl:ENST00000340758) - c.219T>A (Ensembl:ENST00000340758) - p.Asp73Glu (Ensembl:ENST00000659997) - c.219T>A (Ensembl:ENST00000659997) Source type: large scale study | |||||||
rs1676939667 | 73 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000001.11:g.206839856G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839856G>A Locations: - p.Asp73Asn (Ensembl:ENST00000656872) - c.217G>A (Ensembl:ENST00000656872) - p.Asp73Asn (Ensembl:ENST00000659997) - c.217G>A (Ensembl:ENST00000659997) - p.Asp73Asn (Ensembl:ENST00000340758) - c.217G>A (Ensembl:ENST00000340758) - p.Asp73Asn (Ensembl:ENST00000270218) - c.217G>A (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1345003758 | 74 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.913) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000001.11:g.206839859G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839859G>A Locations: - p.Val74Met (Ensembl:ENST00000656872) - c.220G>A (Ensembl:ENST00000656872) - p.Val74Met (Ensembl:ENST00000659997) - c.220G>A (Ensembl:ENST00000659997) - p.Val74Met (Ensembl:ENST00000340758) - c.220G>A (Ensembl:ENST00000340758) - p.Val74Met (Ensembl:ENST00000270218) - c.220G>A (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1676940162 | 75 | C>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206839862T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839862T>A Locations: - p.Cys75Ser (Ensembl:ENST00000270218) - c.223T>A (Ensembl:ENST00000270218) - p.Cys75Ser (Ensembl:ENST00000659997) - c.223T>A (Ensembl:ENST00000659997) - p.Cys75Ser (Ensembl:ENST00000656872) - c.223T>A (Ensembl:ENST00000656872) - p.Cys75Ser (Ensembl:ENST00000340758) - c.223T>A (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
COSV54282763 rs375138273 | 77 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely benign (Ensembl) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0.132) - SIFT: tolerated (0.45) - PolyPhen: benign (0.012) - SIFT: tolerated (0.47) Somatic: Yes Population frequencies: - MAF: 0.0004 (1000Genomes) Accession: NC_000001.11:g.206839868G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839868G>A Locations: - p.V77M (NCI-TCGA:ENST00000270218) - p.V77M (NCI-TCGA:ENST00000659997) - p.V77M (NCI-TCGA:ENST00000656872) - p.V77M (NCI-TCGA:ENST00000340758) - p.Val77Met (Ensembl:ENST00000659997) - c.229G>A (Ensembl:ENST00000659997) - p.Val77Met (Ensembl:ENST00000340758) - c.229G>A (Ensembl:ENST00000340758) - p.Val77Met (Ensembl:ENST00000270218) - c.229G>A (Ensembl:ENST00000270218) - p.Val77Met (Ensembl:ENST00000656872) - c.229G>A (Ensembl:ENST00000656872) Source type: large scale study | |||||||
rs1342108737 | 78 | T>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.206839872C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839872C>G Locations: - p.Thr78Ser (Ensembl:ENST00000270218) - c.233C>G (Ensembl:ENST00000270218) - p.Thr78Ser (Ensembl:ENST00000659997) - c.233C>G (Ensembl:ENST00000659997) - p.Thr78Ser (Ensembl:ENST00000656872) - c.233C>G (Ensembl:ENST00000656872) - p.Thr78Ser (Ensembl:ENST00000340758) - c.233C>G (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
COSV54283420 | 79 | K>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206839874A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206839874A>G Locations: - p.Lys79Glu (cosmic curated:ENST00000270218) - c.235A>G (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
COSV54283032 | 79 | K>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206839876G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206839876G>T Locations: - p.Lys79Asn (cosmic curated:ENST00000270218) - c.237G>T (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
COSV54282497 | 80 | N>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206839877A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206839877A>G Locations: - p.Asn80Asp (cosmic curated:ENST00000270218) - c.238A>G (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs141660098 | 80 | N>K | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.183) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000001.11:g.206839879C>A Codon: AAC/AAA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839879C>A Locations: - p.Asn80Lys (Ensembl:ENST00000656872) - c.240C>A (Ensembl:ENST00000656872) - p.Asn80Lys (Ensembl:ENST00000659997) - c.240C>A (Ensembl:ENST00000659997) - p.Asn80Lys (Ensembl:ENST00000340758) - c.240C>A (Ensembl:ENST00000340758) - p.Asn80Lys (Ensembl:ENST00000270218) - c.240C>A (Ensembl:ENST00000270218) Source type: large scale study | |||||||
rs780801302 | 83 | A>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.206839887C>A Codon: GCG/GAG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839887C>A Locations: - p.Ala83Glu (Ensembl:ENST00000270218) - c.248C>A (Ensembl:ENST00000270218) - p.Ala83Glu (Ensembl:ENST00000659997) - c.248C>A (Ensembl:ENST00000659997) - p.Ala83Glu (Ensembl:ENST00000656872) - c.248C>A (Ensembl:ENST00000656872) - p.Ala83Glu (Ensembl:ENST00000340758) - c.248C>A (Ensembl:ENST00000340758) Source type: large scale study | |||||||
rs780801302 | 83 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000001.11:g.206839887C>G Codon: GCG/GGG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839887C>G Locations: - p.Ala83Gly (Ensembl:ENST00000270218) - c.248C>G (Ensembl:ENST00000270218) - p.Ala83Gly (Ensembl:ENST00000656872) - c.248C>G (Ensembl:ENST00000656872) - p.Ala83Gly (Ensembl:ENST00000659997) - c.248C>G (Ensembl:ENST00000659997) - p.Ala83Gly (Ensembl:ENST00000340758) - c.248C>G (Ensembl:ENST00000340758) Source type: large scale study | |||||||
rs780801302 | 83 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: tolerated (0.24) - PolyPhen: benign (0.051) - SIFT: tolerated (0.26) Somatic: No Population frequencies: - MAF: 0.00002785 (gnomAD) Accession: NC_000001.11:g.206839887C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839887C>T Locations: - p.A83V (NCI-TCGA:ENST00000270218) - p.A83V (NCI-TCGA:ENST00000659997) - p.A83V (NCI-TCGA:ENST00000656872) - p.A83V (NCI-TCGA:ENST00000340758) - p.Ala83Val (Ensembl:ENST00000340758) - c.248C>T (Ensembl:ENST00000340758) - p.Ala83Val (Ensembl:ENST00000656872) - c.248C>T (Ensembl:ENST00000656872) - p.Ala83Val (Ensembl:ENST00000270218) - c.248C>T (Ensembl:ENST00000270218) - p.Ala83Val (Ensembl:ENST00000659997) - c.248C>T (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
rs756109005 | 84 | F>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.206839889T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839889T>C Locations: - p.Phe84Leu (Ensembl:ENST00000340758) - c.250T>C (Ensembl:ENST00000340758) - p.Phe84Leu (Ensembl:ENST00000270218) - c.250T>C (Ensembl:ENST00000270218) - p.Phe84Leu (Ensembl:ENST00000659997) - c.250T>C (Ensembl:ENST00000659997) - p.Phe84Leu (Ensembl:ENST00000656872) - c.250T>C (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs557339350 | 86 | V>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000001.11:g.206839895G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839895G>T Locations: - p.Val86Leu (Ensembl:ENST00000659997) - c.256G>T (Ensembl:ENST00000659997) - p.Val86Leu (Ensembl:ENST00000656872) - c.256G>T (Ensembl:ENST00000656872) - p.Val86Leu (Ensembl:ENST00000340758) - c.256G>T (Ensembl:ENST00000340758) - p.Val86Leu (Ensembl:ENST00000270218) - c.256G>T (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
COSV54284736 rs557339350 | 86 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.055) - SIFT: tolerated (0.43) - PolyPhen: benign (0.013) - SIFT: tolerated (0.25) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000001.11:g.206839895G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839895G>A Locations: - p.V86M (NCI-TCGA:ENST00000270218) - p.V86M (NCI-TCGA:ENST00000659997) - p.V86M (NCI-TCGA:ENST00000656872) - p.V86M (NCI-TCGA:ENST00000340758) - p.Val86Met (Ensembl:ENST00000270218) - c.256G>A (Ensembl:ENST00000270218) - p.Val86Met (Ensembl:ENST00000656872) - c.256G>A (Ensembl:ENST00000656872) - p.Val86Met (Ensembl:ENST00000659997) - c.256G>A (Ensembl:ENST00000659997) - p.Val86Met (Ensembl:ENST00000340758) - c.256G>A (Ensembl:ENST00000340758) Source type: large scale study | |||||||
rs1426384616 | 87 | D>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000001.11:g.206839900C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839900C>G Locations: - p.Asp87Glu (Ensembl:ENST00000659997) - c.261C>G (Ensembl:ENST00000659997) - p.Asp87Glu (Ensembl:ENST00000340758) - c.261C>G (Ensembl:ENST00000340758) - p.Asp87Glu (Ensembl:ENST00000656872) - c.261C>G (Ensembl:ENST00000656872) - p.Asp87Glu (Ensembl:ENST00000270218) - c.261C>G (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
COSV54285101 | 87 | D>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206839899A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206839899A>G Locations: - p.Asp87Gly (cosmic curated:ENST00000270218) - c.260A>G (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs772288000 | 87 | D>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.872) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206839898G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839898G>C Locations: - p.Asp87His (Ensembl:ENST00000656872) - c.259G>C (Ensembl:ENST00000656872) - p.Asp87His (Ensembl:ENST00000340758) - c.259G>C (Ensembl:ENST00000340758) - p.Asp87His (Ensembl:ENST00000270218) - c.259G>C (Ensembl:ENST00000270218) - p.Asp87His (Ensembl:ENST00000659997) - c.259G>C (Ensembl:ENST00000659997) Source type: large scale study | |||||||
COSV54282612 | 87 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.737) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000001.11:g.206839898G>A Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839898G>A Locations: - p.D87N (NCI-TCGA:ENST00000270218) - p.Asp87Asn (cosmic curated:ENST00000270218) - c.259G>A (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
COSV54283296 | 88 | R>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000001.11:g.206839902G>C Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839902G>C Locations: - p.R88T (NCI-TCGA:ENST00000270218) - p.Arg88Thr (cosmic curated:ENST00000270218) - c.263G>C (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1159102665 | 89 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.206839905T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839905T>C Locations: - p.Val89Ala (Ensembl:ENST00000659997) - c.266T>C (Ensembl:ENST00000659997) - p.Val89Ala (Ensembl:ENST00000270218) - c.266T>C (Ensembl:ENST00000270218) - p.Val89Ala (Ensembl:ENST00000656872) - c.266T>C (Ensembl:ENST00000656872) - p.Val89Ala (Ensembl:ENST00000340758) - c.266T>C (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs770895558 | 91 | K>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.317) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206839910A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839910A>G Locations: - p.Lys91Glu (Ensembl:ENST00000656872) - c.271A>G (Ensembl:ENST00000656872) - p.Lys91Glu (Ensembl:ENST00000659997) - c.271A>G (Ensembl:ENST00000659997) - p.Lys91Glu (Ensembl:ENST00000340758) - c.271A>G (Ensembl:ENST00000340758) - p.Lys91Glu (Ensembl:ENST00000270218) - c.271A>G (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
COSV54284127 | 91 | K>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206839912G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206839912G>T Locations: - p.Lys91Asn (cosmic curated:ENST00000270218) - c.273G>T (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs770895558 | 91 | K>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.206839910A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839910A>C Locations: - p.Lys91Gln (Ensembl:ENST00000659997) - c.271A>C (Ensembl:ENST00000659997) - p.Lys91Gln (Ensembl:ENST00000340758) - c.271A>C (Ensembl:ENST00000340758) - p.Lys91Gln (Ensembl:ENST00000270218) - c.271A>C (Ensembl:ENST00000270218) - p.Lys91Gln (Ensembl:ENST00000656872) - c.271A>C (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs760119187 | 92 | D>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.883) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000001.11:g.206839914A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839914A>G Locations: - p.Asp92Gly (Ensembl:ENST00000656872) - c.275A>G (Ensembl:ENST00000656872) - p.Asp92Gly (Ensembl:ENST00000270218) - c.275A>G (Ensembl:ENST00000270218) - p.Asp92Gly (Ensembl:ENST00000340758) - c.275A>G (Ensembl:ENST00000340758) - p.Asp92Gly (Ensembl:ENST00000659997) - c.275A>G (Ensembl:ENST00000659997) Source type: large scale study | |||||||
rs776831843 | 92 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000001.11:g.206839913G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839913G>A Locations: - p.Asp92Asn (Ensembl:ENST00000659997) - c.274G>A (Ensembl:ENST00000659997) - p.Asp92Asn (Ensembl:ENST00000340758) - c.274G>A (Ensembl:ENST00000340758) - p.Asp92Asn (Ensembl:ENST00000270218) - c.274G>A (Ensembl:ENST00000270218) - p.Asp92Asn (Ensembl:ENST00000656872) - c.274G>A (Ensembl:ENST00000656872) Source type: large scale study | |||||||
rs771535307 | 93 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.779) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000001.11:g.206839916C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839916C>T Locations: - p.His93Tyr (Ensembl:ENST00000656872) - c.277C>T (Ensembl:ENST00000656872) - p.His93Tyr (Ensembl:ENST00000340758) - c.277C>T (Ensembl:ENST00000340758) - p.His93Tyr (Ensembl:ENST00000270218) - c.277C>T (Ensembl:ENST00000270218) - p.His93Tyr (Ensembl:ENST00000659997) - c.277C>T (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
rs1437311289 | 94 | Q>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000001.11:g.206839919C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839919C>G Locations: - p.Gln94Glu (Ensembl:ENST00000340758) - c.280C>G (Ensembl:ENST00000340758) - p.Gln94Glu (Ensembl:ENST00000659997) - c.280C>G (Ensembl:ENST00000659997) - p.Gln94Glu (Ensembl:ENST00000656872) - c.280C>G (Ensembl:ENST00000656872) - p.Gln94Glu (Ensembl:ENST00000270218) - c.280C>G (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1676943338 | 94 | Q>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.819) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206839921G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839921G>T Locations: - p.Gln94His (Ensembl:ENST00000270218) - c.282G>T (Ensembl:ENST00000270218) - p.Gln94His (Ensembl:ENST00000659997) - c.282G>T (Ensembl:ENST00000659997) - p.Gln94His (Ensembl:ENST00000656872) - c.282G>T (Ensembl:ENST00000656872) - p.Gln94His (Ensembl:ENST00000340758) - c.282G>T (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs1676943484 | 95 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000001.11:g.206839924G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839924G>C Locations: - p.Glu95Asp (Ensembl:ENST00000659997) - c.285G>C (Ensembl:ENST00000659997) - p.Glu95Asp (Ensembl:ENST00000270218) - c.285G>C (Ensembl:ENST00000270218) - p.Glu95Asp (Ensembl:ENST00000656872) - c.285G>C (Ensembl:ENST00000656872) - p.Glu95Asp (Ensembl:ENST00000340758) - c.285G>C (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs1047464513 | 96 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.98) Somatic: No Accession: NC_000001.11:g.206839925C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839925C>T Locations: - p.Pro96Ser (Ensembl:ENST00000659997) - c.286C>T (Ensembl:ENST00000659997) - p.Pro96Ser (Ensembl:ENST00000270218) - c.286C>T (Ensembl:ENST00000270218) - p.Pro96Ser (Ensembl:ENST00000340758) - c.286C>T (Ensembl:ENST00000340758) - p.Pro96Ser (Ensembl:ENST00000656872) - c.286C>T (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs570830989 | 98 | P>S | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.894) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000001.11:g.206839931C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839931C>T Locations: - p.Pro98Ser (Ensembl:ENST00000656872) - c.292C>T (Ensembl:ENST00000656872) - p.Pro98Ser (Ensembl:ENST00000659997) - c.292C>T (Ensembl:ENST00000659997) - p.Pro98Ser (Ensembl:ENST00000340758) - c.292C>T (Ensembl:ENST00000340758) - p.Pro98Ser (Ensembl:ENST00000270218) - c.292C>T (Ensembl:ENST00000270218) Source type: large scale study | |||||||
COSV54282483 | 99 | K>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206839934A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206839934A>C Locations: - p.Lys99Gln (cosmic curated:ENST00000270218) - c.295A>C (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1676943792 | 99 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000001.11:g.206839935A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839935A>G Locations: - p.Lys99Arg (Ensembl:ENST00000659997) - c.296A>G (Ensembl:ENST00000659997) - p.Lys99Arg (Ensembl:ENST00000656872) - c.296A>G (Ensembl:ENST00000656872) - p.Lys99Arg (Ensembl:ENST00000340758) - c.296A>G (Ensembl:ENST00000340758) - p.Lys99Arg (Ensembl:ENST00000270218) - c.296A>G (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
COSV54284646 | 100 | I>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206839939C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206839939C>G Locations: - p.Ile100Met (cosmic curated:ENST00000270218) - c.300C>G (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1365023868 | 100 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206839938T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839938T>C Locations: - p.Ile100Thr (Ensembl:ENST00000656872) - c.299T>C (Ensembl:ENST00000656872) - p.Ile100Thr (Ensembl:ENST00000659997) - c.299T>C (Ensembl:ENST00000659997) - p.Ile100Thr (Ensembl:ENST00000340758) - c.299T>C (Ensembl:ENST00000340758) - p.Ile100Thr (Ensembl:ENST00000270218) - c.299T>C (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
COSV54283385 | 101 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206839942G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206839942G>C Locations: - p.Leu101Phe (cosmic curated:ENST00000270218) - c.303G>C (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs908928493 | 103 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.598) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000001.11:g.206839948A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839948A>C Locations: - p.Lys103Asn (Ensembl:ENST00000340758) - c.309A>C (Ensembl:ENST00000340758) - p.Lys103Asn (Ensembl:ENST00000659997) - c.309A>C (Ensembl:ENST00000659997) - p.Lys103Asn (Ensembl:ENST00000656872) - c.309A>C (Ensembl:ENST00000656872) - p.Lys103Asn (Ensembl:ENST00000270218) - c.309A>C (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs2102491529 | 104 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000001.11:g.206839949A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839949A>G Locations: - p.Ile104Val (Ensembl:ENST00000270218) - c.310A>G (Ensembl:ENST00000270218) - p.Ile104Val (Ensembl:ENST00000340758) - c.310A>G (Ensembl:ENST00000340758) - p.Ile104Val (Ensembl:ENST00000656872) - c.310A>G (Ensembl:ENST00000656872) - p.Ile104Val (Ensembl:ENST00000659997) - c.310A>G (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
TCGA novel | 104 | I>missing | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: insertion Somatic: No Accession: NC_000001.11:g.206839948_206839949insATC Consequence type: insertion Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839948_206839949insATC Locations: - c.311_313dup (NCI-TCGA:ENST00000270218) - p.I104dup (NCI-TCGA:ENST00000270218) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1459298965 | 105 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206839954C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839954C>G Locations: - p.Ser105Arg (Ensembl:ENST00000656872) - c.315C>G (Ensembl:ENST00000656872) - p.Ser105Arg (Ensembl:ENST00000659997) - c.315C>G (Ensembl:ENST00000659997) - p.Ser105Arg (Ensembl:ENST00000270218) - c.315C>G (Ensembl:ENST00000270218) - p.Ser105Arg (Ensembl:ENST00000340758) - c.315C>G (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs1381006372 | 106 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.813) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206839955A>T Codon: AGC/TGC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839955A>T Locations: - p.Ser106Cys (Ensembl:ENST00000659997) - c.316A>T (Ensembl:ENST00000659997) - p.Ser106Cys (Ensembl:ENST00000270218) - c.316A>T (Ensembl:ENST00000270218) - p.Ser106Cys (Ensembl:ENST00000340758) - c.316A>T (Ensembl:ENST00000340758) - p.Ser106Cys (Ensembl:ENST00000656872) - c.316A>T (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
COSV107208938 | 106 | S>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206839956G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206839956G>T Locations: - p.Ser106Ile (cosmic curated:ENST00000270218) - c.317G>T (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs763436727 | 106 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.206839956G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839956G>A Locations: - p.Ser106Asn (Ensembl:ENST00000340758) - c.317G>A (Ensembl:ENST00000340758) - p.Ser106Asn (Ensembl:ENST00000656872) - c.317G>A (Ensembl:ENST00000656872) - p.Ser106Asn (Ensembl:ENST00000659997) - c.317G>A (Ensembl:ENST00000659997) - p.Ser106Asn (Ensembl:ENST00000270218) - c.317G>A (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs759238068 | 107 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.206839958A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839958A>G Locations: - p.Ile107Val (Ensembl:ENST00000659997) - c.319A>G (Ensembl:ENST00000659997) - p.Ile107Val (Ensembl:ENST00000270218) - c.319A>G (Ensembl:ENST00000270218) - p.Ile107Val (Ensembl:ENST00000656872) - c.319A>G (Ensembl:ENST00000656872) - p.Ile107Val (Ensembl:ENST00000340758) - c.319A>G (Ensembl:ENST00000340758) Source type: large scale study | |||||||
rs1676945132 | 108 | A>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.584) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206839962C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839962C>G Locations: - p.Ala108Gly (Ensembl:ENST00000656872) - c.323C>G (Ensembl:ENST00000656872) - p.Ala108Gly (Ensembl:ENST00000659997) - c.323C>G (Ensembl:ENST00000659997) - p.Ala108Gly (Ensembl:ENST00000340758) - c.323C>G (Ensembl:ENST00000340758) - p.Ala108Gly (Ensembl:ENST00000270218) - c.323C>G (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
COSV99536148 | 108 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.206839962C>T Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839962C>T Locations: - p.A108V (NCI-TCGA:ENST00000270218) - p.Ala108Val (cosmic curated:ENST00000270218) - c.323C>T (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs751147550 | 109 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206839965A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839965A>G Locations: - p.Asn109Ser (Ensembl:ENST00000656872) - c.326A>G (Ensembl:ENST00000656872) - p.Asn109Ser (Ensembl:ENST00000270218) - c.326A>G (Ensembl:ENST00000270218) - p.Asn109Ser (Ensembl:ENST00000340758) - c.326A>G (Ensembl:ENST00000340758) - p.Asn109Ser (Ensembl:ENST00000659997) - c.326A>G (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
rs751147550 | 109 | N>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206839965A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839965A>C Locations: - p.Asn109Thr (Ensembl:ENST00000659997) - c.326A>C (Ensembl:ENST00000659997) - p.Asn109Thr (Ensembl:ENST00000656872) - c.326A>C (Ensembl:ENST00000656872) - p.Asn109Thr (Ensembl:ENST00000340758) - c.326A>C (Ensembl:ENST00000340758) - p.Asn109Thr (Ensembl:ENST00000270218) - c.326A>C (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1572577437 | 110 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.206839968C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839968C>T Locations: - p.Ser110Phe (Ensembl:ENST00000270218) - c.329C>T (Ensembl:ENST00000270218) - p.Ser110Phe (Ensembl:ENST00000340758) - c.329C>T (Ensembl:ENST00000340758) - p.Ser110Phe (Ensembl:ENST00000656872) - c.329C>T (Ensembl:ENST00000656872) - p.Ser110Phe (Ensembl:ENST00000659997) - c.329C>T (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
rs542514900 | 111 | F>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.206839972C>A Codon: TTC/TTA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839972C>A Locations: - p.Phe111Leu (Ensembl:ENST00000340758) - c.333C>A (Ensembl:ENST00000340758) - p.Phe111Leu (Ensembl:ENST00000656872) - c.333C>A (Ensembl:ENST00000656872) - p.Phe111Leu (Ensembl:ENST00000659997) - c.333C>A (Ensembl:ENST00000659997) - p.Phe111Leu (Ensembl:ENST00000270218) - c.333C>A (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1330787231 | 111 | F>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206839971T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839971T>C Locations: - p.Phe111Ser (Ensembl:ENST00000270218) - c.332T>C (Ensembl:ENST00000270218) - p.Phe111Ser (Ensembl:ENST00000659997) - c.332T>C (Ensembl:ENST00000659997) - p.Phe111Ser (Ensembl:ENST00000656872) - c.332T>C (Ensembl:ENST00000656872) - p.Phe111Ser (Ensembl:ENST00000340758) - c.332T>C (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs761582075 | 112 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000001.11:g.206839973C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839973C>T Locations: - p.Leu112Phe (Ensembl:ENST00000270218) - c.334C>T (Ensembl:ENST00000270218) - p.Leu112Phe (Ensembl:ENST00000656872) - c.334C>T (Ensembl:ENST00000656872) - p.Leu112Phe (Ensembl:ENST00000659997) - c.334C>T (Ensembl:ENST00000659997) - p.Leu112Phe (Ensembl:ENST00000340758) - c.334C>T (Ensembl:ENST00000340758) Source type: large scale study | |||||||
rs755988118 | 114 | M>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000001.11:g.206839981G>T Codon: ATG/ATT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839981G>T Locations: - p.Met114Ile (Ensembl:ENST00000659997) - c.342G>T (Ensembl:ENST00000659997) - p.Met114Ile (Ensembl:ENST00000270218) - c.342G>T (Ensembl:ENST00000270218) - p.Met114Ile (Ensembl:ENST00000340758) - c.342G>T (Ensembl:ENST00000340758) - p.Met114Ile (Ensembl:ENST00000656872) - c.342G>T (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs749938466 | 114 | M>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.245) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206839980T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839980T>G Locations: - p.Met114Arg (Ensembl:ENST00000270218) - c.341T>G (Ensembl:ENST00000270218) - p.Met114Arg (Ensembl:ENST00000340758) - c.341T>G (Ensembl:ENST00000340758) - p.Met114Arg (Ensembl:ENST00000656872) - c.341T>G (Ensembl:ENST00000656872) - p.Met114Arg (Ensembl:ENST00000659997) - c.341T>G (Ensembl:ENST00000659997) Source type: large scale study | |||||||
rs749938466 | 114 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.322) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000001.11:g.206839980T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839980T>C Locations: - p.Met114Thr (Ensembl:ENST00000656872) - c.341T>C (Ensembl:ENST00000656872) - p.Met114Thr (Ensembl:ENST00000659997) - c.341T>C (Ensembl:ENST00000659997) - p.Met114Thr (Ensembl:ENST00000340758) - c.341T>C (Ensembl:ENST00000340758) - p.Met114Thr (Ensembl:ENST00000270218) - c.341T>C (Ensembl:ENST00000270218) Source type: large scale study | |||||||
rs1038525251 | 114 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000001.11:g.206839979A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839979A>G Locations: - p.Met114Val (Ensembl:ENST00000656872) - c.340A>G (Ensembl:ENST00000656872) - p.Met114Val (Ensembl:ENST00000270218) - c.340A>G (Ensembl:ENST00000270218) - p.Met114Val (Ensembl:ENST00000340758) - c.340A>G (Ensembl:ENST00000340758) - p.Met114Val (Ensembl:ENST00000659997) - c.340A>G (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
TCGA novel | 117 | T>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000001.11:g.206839988A>T Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839988A>T Locations: - c.349A>T (NCI-TCGA:ENST00000270218) - p.T117S (NCI-TCGA:ENST00000270218) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1325365393 | 118 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206839992T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839992T>C Locations: - p.Leu118Pro (Ensembl:ENST00000270218) - c.353T>C (Ensembl:ENST00000270218) - p.Leu118Pro (Ensembl:ENST00000340758) - c.353T>C (Ensembl:ENST00000340758) - p.Leu118Pro (Ensembl:ENST00000659997) - c.353T>C (Ensembl:ENST00000659997) - p.Leu118Pro (Ensembl:ENST00000656872) - c.353T>C (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs764580326 | 118 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000001.11:g.206839991C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839991C>G Locations: - p.Leu118Val (Ensembl:ENST00000659997) - c.352C>G (Ensembl:ENST00000659997) - p.Leu118Val (Ensembl:ENST00000340758) - c.352C>G (Ensembl:ENST00000340758) - p.Leu118Val (Ensembl:ENST00000656872) - c.352C>G (Ensembl:ENST00000656872) - p.Leu118Val (Ensembl:ENST00000270218) - c.352C>G (Ensembl:ENST00000270218) Source type: large scale study | |||||||
rs562006297 | 119 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.206839995G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839995G>A Locations: - p.Arg119Gln (Ensembl:ENST00000659997) - c.356G>A (Ensembl:ENST00000659997) - p.Arg119Gln (Ensembl:ENST00000656872) - c.356G>A (Ensembl:ENST00000656872) - p.Arg119Gln (Ensembl:ENST00000340758) - c.356G>A (Ensembl:ENST00000340758) - p.Arg119Gln (Ensembl:ENST00000270218) - c.356G>A (Ensembl:ENST00000270218) Source type: large scale study | |||||||
COSV105040938 rs753591170 | 119 | R>W | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.354) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000001.11:g.206839994C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206839994C>T Locations: - p.Arg119Trp (Ensembl:ENST00000270218) - c.355C>T (Ensembl:ENST00000270218) - p.Arg119Trp (Ensembl:ENST00000656872) - c.355C>T (Ensembl:ENST00000656872) - p.Arg119Trp (Ensembl:ENST00000659997) - c.355C>T (Ensembl:ENST00000659997) - p.Arg119Trp (Ensembl:ENST00000340758) - c.355C>T (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
TCGA novel | 121 | C>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206840000T>C Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206840000T>C Locations: - c.361T>C (NCI-TCGA:ENST00000270218) - p.C121R (NCI-TCGA:ENST00000270218) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1676947355 | 121 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206840001G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206840001G>A Locations: - p.Cys121Tyr (Ensembl:ENST00000340758) - c.362G>A (Ensembl:ENST00000340758) - p.Cys121Tyr (Ensembl:ENST00000659997) - c.362G>A (Ensembl:ENST00000659997) - p.Cys121Tyr (Ensembl:ENST00000656872) - c.362G>A (Ensembl:ENST00000656872) - p.Cys121Tyr (Ensembl:ENST00000270218) - c.362G>A (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs780932355 | 122 | Q>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.206841004C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841004C>T Locations: - p.Gln122Ter (Ensembl:ENST00000270218) - c.364C>T (Ensembl:ENST00000270218) - p.Gln122Ter (Ensembl:ENST00000659997) - c.364C>T (Ensembl:ENST00000659997) - p.Gln122Ter (Ensembl:ENST00000340758) - c.364C>T (Ensembl:ENST00000340758) - p.Gln122Ter (Ensembl:ENST00000656872) - c.364C>T (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
COSV108074216 | 122 | Q>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206841004C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206841004C>A Locations: - p.Gln122Lys (cosmic curated:ENST00000270218) - c.364C>A (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1558624745 | 124 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.206841010C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841010C>T Locations: - p.Gln124Ter (Ensembl:ENST00000656872) - c.370C>T (Ensembl:ENST00000656872) - p.Gln124Ter (Ensembl:ENST00000659997) - c.370C>T (Ensembl:ENST00000659997) - p.Gln124Ter (Ensembl:ENST00000270218) - c.370C>T (Ensembl:ENST00000270218) - p.Gln124Ter (Ensembl:ENST00000340758) - c.370C>T (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs1558624745 | 124 | Q>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.194) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000001.11:g.206841010C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841010C>G Locations: - p.Gln124Glu (Ensembl:ENST00000656872) - c.370C>G (Ensembl:ENST00000656872) - p.Gln124Glu (Ensembl:ENST00000659997) - c.370C>G (Ensembl:ENST00000659997) - p.Gln124Glu (Ensembl:ENST00000270218) - c.370C>G (Ensembl:ENST00000270218) - p.Gln124Glu (Ensembl:ENST00000340758) - c.370C>G (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
COSV54283966 | 125 | R>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206841015G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206841015G>T Locations: - p.Arg125Ser (cosmic curated:ENST00000270218) - c.375G>T (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1268606019 | 127 | C>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206841019T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841019T>C Locations: - p.Cys127Arg (Ensembl:ENST00000656872) - c.379T>C (Ensembl:ENST00000656872) - p.Cys127Arg (Ensembl:ENST00000270218) - c.379T>C (Ensembl:ENST00000270218) - p.Cys127Arg (Ensembl:ENST00000340758) - c.379T>C (Ensembl:ENST00000340758) - p.Cys127Arg (Ensembl:ENST00000659997) - c.379T>C (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
TCGA novel | 127 | C>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206841019T>A Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841019T>A Locations: - c.379T>A (NCI-TCGA:ENST00000270218) - p.C127S (NCI-TCGA:ENST00000270218) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1676998550 | 128 | H>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000001.11:g.206841022C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841022C>A Locations: - p.His128Asn (Ensembl:ENST00000659997) - c.382C>A (Ensembl:ENST00000659997) - p.His128Asn (Ensembl:ENST00000656872) - c.382C>A (Ensembl:ENST00000656872) - p.His128Asn (Ensembl:ENST00000270218) - c.382C>A (Ensembl:ENST00000270218) - p.His128Asn (Ensembl:ENST00000340758) - c.382C>A (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs1558624752 | 129 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.206841026G>A Codon: TGC/TAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841026G>A Locations: - p.Cys129Tyr (Ensembl:ENST00000656872) - c.386G>A (Ensembl:ENST00000656872) - p.Cys129Tyr (Ensembl:ENST00000659997) - c.386G>A (Ensembl:ENST00000659997) - p.Cys129Tyr (Ensembl:ENST00000340758) - c.386G>A (Ensembl:ENST00000340758) - p.Cys129Tyr (Ensembl:ENST00000270218) - c.386G>A (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1183855227 | 130 | R>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000001.11:g.206841030G>C Codon: AGG/AGC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841030G>C Locations: - p.Arg130Ser (Ensembl:ENST00000270218) - c.390G>C (Ensembl:ENST00000270218) - p.Arg130Ser (Ensembl:ENST00000340758) - c.390G>C (Ensembl:ENST00000340758) - p.Arg130Ser (Ensembl:ENST00000659997) - c.390G>C (Ensembl:ENST00000659997) - p.Arg130Ser (Ensembl:ENST00000656872) - c.390G>C (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
COSV54283653 | 131 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206841031C>T Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841031C>T Locations: - p.Q131* (NCI-TCGA:ENST00000270218) - p.Gln131Ter (cosmic curated:ENST00000270218) - c.391C>T (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1558624761 | 131 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206841032A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841032A>G Locations: - p.Gln131Arg (Ensembl:ENST00000270218) - c.392A>G (Ensembl:ENST00000270218) - p.Gln131Arg (Ensembl:ENST00000340758) - c.392A>G (Ensembl:ENST00000340758) - p.Gln131Arg (Ensembl:ENST00000656872) - c.392A>G (Ensembl:ENST00000656872) - p.Gln131Arg (Ensembl:ENST00000659997) - c.392A>G (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
rs1429486064 | 132 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.847) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206841035A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841035A>G Locations: - p.Glu132Gly (Ensembl:ENST00000659997) - c.395A>G (Ensembl:ENST00000659997) - p.Glu132Gly (Ensembl:ENST00000656872) - c.395A>G (Ensembl:ENST00000656872) - p.Glu132Gly (Ensembl:ENST00000270218) - c.395A>G (Ensembl:ENST00000270218) - p.Glu132Gly (Ensembl:ENST00000340758) - c.395A>G (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs769329582 | 132 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.856) - SIFT: deleterious (0) - PolyPhen: possibly damaging (0.459) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000007957 (gnomAD) Accession: NC_000001.11:g.206841034G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841034G>A Locations: - p.E132K (NCI-TCGA:ENST00000270218) - p.E132K (NCI-TCGA:ENST00000659997) - p.E132K (NCI-TCGA:ENST00000656872) - p.E132K (NCI-TCGA:ENST00000340758) - p.Glu132Lys (Ensembl:ENST00000656872) - c.394G>A (Ensembl:ENST00000656872) - p.Glu132Lys (Ensembl:ENST00000340758) - c.394G>A (Ensembl:ENST00000340758) - p.Glu132Lys (Ensembl:ENST00000270218) - c.394G>A (Ensembl:ENST00000270218) - p.Glu132Lys (Ensembl:ENST00000659997) - c.394G>A (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
COSV54284236 | 135 | N>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.491) - SIFT: tolerated (0.25) Somatic: Yes Accession: NC_000001.11:g.206841043A>G Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841043A>G Locations: - p.N135D (NCI-TCGA:ENST00000270218) - p.Asn135Asp (cosmic curated:ENST00000270218) - c.403A>G (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
COSV54282663 COSV54282663,COSV54283243 COSV54283243 | 135 | N>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.941) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000001.11:g.206841044A>T Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841044A>T Locations: - p.N135I (NCI-TCGA:ENST00000270218) - p.Asn135Ile (cosmic curated:ENST00000270218) - c.404A>T (cosmic curated:ENST00000270218) Source type: large scale study | |||||||
rs774926422 | 135 | N>K | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000001.11:g.206841045T>G Codon: AAT/AAG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841045T>G Locations: - p.Asn135Lys (Ensembl:ENST00000659997) - c.405T>G (Ensembl:ENST00000659997) - p.Asn135Lys (Ensembl:ENST00000270218) - c.405T>G (Ensembl:ENST00000270218) - p.Asn135Lys (Ensembl:ENST00000340758) - c.405T>G (Ensembl:ENST00000340758) - p.Asn135Lys (Ensembl:ENST00000656872) - c.405T>G (Ensembl:ENST00000656872) Source type: large scale study | |||||||
COSV54283243 | 135 | N>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206841044A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206841044A>G Locations: - p.Asn135Ser (cosmic curated:ENST00000270218) - c.404A>G (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1676999607 | 136 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.112) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000001.11:g.206841047C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841047C>G Locations: - p.Ala136Gly (Ensembl:ENST00000340758) - c.407C>G (Ensembl:ENST00000340758) - p.Ala136Gly (Ensembl:ENST00000270218) - c.407C>G (Ensembl:ENST00000270218) - p.Ala136Gly (Ensembl:ENST00000656872) - c.407C>G (Ensembl:ENST00000656872) - p.Ala136Gly (Ensembl:ENST00000659997) - c.407C>G (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
COSV99536330 COSV99536387 rs1156321375 | 137 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: tolerated (0.39) - PolyPhen: possibly damaging (0.853) - SIFT: tolerated (0.49) Somatic: Yes Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000001.11:g.206841050C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841050C>T Locations: - p.T137I (NCI-TCGA:ENST00000270218) - p.T137I (NCI-TCGA:ENST00000659997) - p.T137I (NCI-TCGA:ENST00000656872) - p.T137I (NCI-TCGA:ENST00000340758) - p.Thr137Ile (Ensembl:ENST00000656872) - c.410C>T (Ensembl:ENST00000656872) - p.Thr137Ile (Ensembl:ENST00000659997) - c.410C>T (Ensembl:ENST00000659997) - p.Thr137Ile (Ensembl:ENST00000340758) - c.410C>T (Ensembl:ENST00000340758) - p.Thr137Ile (Ensembl:ENST00000270218) - c.410C>T (Ensembl:ENST00000270218) Source type: large scale study | |||||||
COSV99536330 COSV99536330,COSV99536387 COSV99536387 | 137 | T>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: tolerated (0.3) Somatic: Yes Accession: NC_000001.11:g.206841050C>A Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841050C>A Locations: - p.T137N (NCI-TCGA:ENST00000270218) - p.Thr137Asn (cosmic curated:ENST00000270218) - c.410C>A (cosmic curated:ENST00000270218) Source type: large scale study | |||||||
rs1231700829 | 138 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.932) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000001.11:g.206841054A>C Codon: AGA/AGC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841054A>C Locations: - p.Arg138Ser (Ensembl:ENST00000340758) - c.414A>C (Ensembl:ENST00000340758) - p.Arg138Ser (Ensembl:ENST00000270218) - c.414A>C (Ensembl:ENST00000270218) - p.Arg138Ser (Ensembl:ENST00000659997) - c.414A>C (Ensembl:ENST00000659997) - p.Arg138Ser (Ensembl:ENST00000656872) - c.414A>C (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs1677000170 | 139 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.65) Somatic: No Accession: NC_000001.11:g.206841055G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841055G>A Locations: - p.Val139Ile (Ensembl:ENST00000270218) - c.415G>A (Ensembl:ENST00000270218) - p.Val139Ile (Ensembl:ENST00000340758) - c.415G>A (Ensembl:ENST00000340758) - p.Val139Ile (Ensembl:ENST00000656872) - c.415G>A (Ensembl:ENST00000656872) - p.Val139Ile (Ensembl:ENST00000659997) - c.415G>A (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
rs1302536610 | 140 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206841059T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841059T>C Locations: - p.Ile140Thr (Ensembl:ENST00000340758) - c.419T>C (Ensembl:ENST00000340758) - p.Ile140Thr (Ensembl:ENST00000656872) - c.419T>C (Ensembl:ENST00000656872) - p.Ile140Thr (Ensembl:ENST00000659997) - c.419T>C (Ensembl:ENST00000659997) - p.Ile140Thr (Ensembl:ENST00000270218) - c.419T>C (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1677000274 | 140 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000001.11:g.206841058A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841058A>G Locations: - p.Ile140Val (Ensembl:ENST00000340758) - c.418A>G (Ensembl:ENST00000340758) - p.Ile140Val (Ensembl:ENST00000659997) - c.418A>G (Ensembl:ENST00000659997) - p.Ile140Val (Ensembl:ENST00000270218) - c.418A>G (Ensembl:ENST00000270218) - p.Ile140Val (Ensembl:ENST00000656872) - c.418A>G (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs1411478004 | 143 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206841068A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841068A>G Locations: - p.Asn143Ser (Ensembl:ENST00000340758) - c.428A>G (Ensembl:ENST00000340758) - p.Asn143Ser (Ensembl:ENST00000270218) - c.428A>G (Ensembl:ENST00000270218) - p.Asn143Ser (Ensembl:ENST00000659997) - c.428A>G (Ensembl:ENST00000659997) - p.Asn143Ser (Ensembl:ENST00000656872) - c.428A>G (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs1016620057 | 144 | Y>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000001.11:g.206841072T>G Codon: TAT/TAG Consequence type: stop gained Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841072T>G Locations: - p.Tyr144Ter (Ensembl:ENST00000270218) - c.432T>G (Ensembl:ENST00000270218) - p.Tyr144Ter (Ensembl:ENST00000659997) - c.432T>G (Ensembl:ENST00000659997) - p.Tyr144Ter (Ensembl:ENST00000656872) - c.432T>G (Ensembl:ENST00000656872) - p.Tyr144Ter (Ensembl:ENST00000340758) - c.432T>G (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs1253130344 | 144 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206841071A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841071A>G Locations: - p.Tyr144Cys (Ensembl:ENST00000656872) - c.431A>G (Ensembl:ENST00000656872) - p.Tyr144Cys (Ensembl:ENST00000270218) - c.431A>G (Ensembl:ENST00000270218) - p.Tyr144Cys (Ensembl:ENST00000340758) - c.431A>G (Ensembl:ENST00000340758) - p.Tyr144Cys (Ensembl:ENST00000659997) - c.431A>G (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
TCGA novel | 145 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.318) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000001.11:g.206841074A>G Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206841074A>G Locations: - c.434A>G (NCI-TCGA:ENST00000270218) - p.D145G (NCI-TCGA:ENST00000270218) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV54283853 | 145 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206841073G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206841073G>A Locations: - p.Asp145Asn (cosmic curated:ENST00000270218) - c.433G>A (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
COSV54284400 | 148 | E>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206842531A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206842531A>C Locations: - p.Glu148Ala (cosmic curated:ENST00000270218) - c.443A>C (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1572579307 | 149 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000001.11:g.206842534T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842534T>C Locations: - p.Val149Ala (Ensembl:ENST00000659997) - c.446T>C (Ensembl:ENST00000659997) - p.Val149Ala (Ensembl:ENST00000340758) - c.446T>C (Ensembl:ENST00000340758) - p.Val149Ala (Ensembl:ENST00000270218) - c.446T>C (Ensembl:ENST00000270218) - p.Val149Ala (Ensembl:ENST00000656872) - c.446T>C (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs1572579318 | 150 | H>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000001.11:g.206842537A>C Codon: CAC/CCC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842537A>C Locations: - p.His150Pro (Ensembl:ENST00000656872) - c.449A>C (Ensembl:ENST00000656872) - p.His150Pro (Ensembl:ENST00000659997) - c.449A>C (Ensembl:ENST00000659997) - p.His150Pro (Ensembl:ENST00000270218) - c.449A>C (Ensembl:ENST00000270218) - p.His150Pro (Ensembl:ENST00000340758) - c.449A>C (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs1572579318 | 150 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.81) Somatic: No Accession: NC_000001.11:g.206842537A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842537A>G Locations: - p.His150Arg (Ensembl:ENST00000656872) - c.449A>G (Ensembl:ENST00000656872) - p.His150Arg (Ensembl:ENST00000270218) - c.449A>G (Ensembl:ENST00000270218) - p.His150Arg (Ensembl:ENST00000340758) - c.449A>G (Ensembl:ENST00000340758) - p.His150Arg (Ensembl:ENST00000659997) - c.449A>G (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
rs1275796417 | 150 | H>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000001.11:g.206842536C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842536C>T Locations: - p.His150Tyr (Ensembl:ENST00000270218) - c.448C>T (Ensembl:ENST00000270218) - p.His150Tyr (Ensembl:ENST00000659997) - c.448C>T (Ensembl:ENST00000659997) - p.His150Tyr (Ensembl:ENST00000340758) - c.448C>T (Ensembl:ENST00000340758) - p.His150Tyr (Ensembl:ENST00000656872) - c.448C>T (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs375976152 | 151 | A>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.206842539G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842539G>C Locations: - p.Ala151Pro (Ensembl:ENST00000340758) - c.451G>C (Ensembl:ENST00000340758) - p.Ala151Pro (Ensembl:ENST00000659997) - c.451G>C (Ensembl:ENST00000659997) - p.Ala151Pro (Ensembl:ENST00000656872) - c.451G>C (Ensembl:ENST00000656872) - p.Ala151Pro (Ensembl:ENST00000270218) - c.451G>C (Ensembl:ENST00000270218) Source type: large scale study | |||||||
rs375976152 | 151 | A>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206842539G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842539G>A Locations: - p.Ala151Thr (Ensembl:ENST00000340758) - c.451G>A (Ensembl:ENST00000340758) - p.Ala151Thr (Ensembl:ENST00000270218) - c.451G>A (Ensembl:ENST00000270218) - p.Ala151Thr (Ensembl:ENST00000659997) - c.451G>A (Ensembl:ENST00000659997) - p.Ala151Thr (Ensembl:ENST00000656872) - c.451G>A (Ensembl:ENST00000656872) Source type: large scale study | |||||||
rs1572579329 | 152 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206842542G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842542G>C Locations: - p.Ala152Pro (Ensembl:ENST00000340758) - c.454G>C (Ensembl:ENST00000340758) - p.Ala152Pro (Ensembl:ENST00000659997) - c.454G>C (Ensembl:ENST00000659997) - p.Ala152Pro (Ensembl:ENST00000656872) - c.454G>C (Ensembl:ENST00000656872) - p.Ala152Pro (Ensembl:ENST00000270218) - c.454G>C (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1442459212 | 153 | A>G | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000001.11:g.206842546C>G Codon: GCC/GGC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842546C>G Locations: - p.Ala153Gly (Ensembl:ENST00000659997) - c.458C>G (Ensembl:ENST00000659997) - p.Ala153Gly (Ensembl:ENST00000656872) - c.458C>G (Ensembl:ENST00000656872) - p.Ala153Gly (Ensembl:ENST00000340758) - c.458C>G (Ensembl:ENST00000340758) - p.Ala153Gly (Ensembl:ENST00000270218) - c.458C>G (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1182453353 | 156 | S>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206842554T>A Codon: TCC/ACC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842554T>A Locations: - p.Ser156Thr (Ensembl:ENST00000340758) - c.466T>A (Ensembl:ENST00000340758) - p.Ser156Thr (Ensembl:ENST00000659997) - c.466T>A (Ensembl:ENST00000659997) - p.Ser156Thr (Ensembl:ENST00000270218) - c.466T>A (Ensembl:ENST00000270218) - p.Ser156Thr (Ensembl:ENST00000656872) - c.466T>A (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
COSV105040903 TCGA novel | 158 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000001.11:g.206842561G>A Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842561G>A Locations: - p.G158E (NCI-TCGA:ENST00000270218) - p.Gly158Glu (cosmic curated:ENST00000270218) - c.473G>A (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1054097136 | 159 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206842565G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842565G>C Locations: - p.Glu159Asp (Ensembl:ENST00000270218) - c.477G>C (Ensembl:ENST00000270218) - p.Glu159Asp (Ensembl:ENST00000340758) - c.477G>C (Ensembl:ENST00000340758) - p.Glu159Asp (Ensembl:ENST00000659997) - c.477G>C (Ensembl:ENST00000659997) - p.Glu159Asp (Ensembl:ENST00000656872) - c.477G>C (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs1161227470 | 159 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206842563G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842563G>A Locations: - p.Glu159Lys (Ensembl:ENST00000270218) - c.475G>A (Ensembl:ENST00000270218) - p.Glu159Lys (Ensembl:ENST00000659997) - c.475G>A (Ensembl:ENST00000659997) - p.Glu159Lys (Ensembl:ENST00000656872) - c.475G>A (Ensembl:ENST00000656872) - p.Glu159Lys (Ensembl:ENST00000340758) - c.475G>A (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs1189204069 | 160 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206842566C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842566C>T Locations: - p.L160F (NCI-TCGA:ENST00000270218) - p.L160F (NCI-TCGA:ENST00000659997) - p.L160F (NCI-TCGA:ENST00000656872) - p.L160F (NCI-TCGA:ENST00000340758) - p.Leu160Phe (Ensembl:ENST00000270218) - c.478C>T (Ensembl:ENST00000270218) - p.Leu160Phe (Ensembl:ENST00000659997) - c.478C>T (Ensembl:ENST00000659997) - p.Leu160Phe (Ensembl:ENST00000656872) - c.478C>T (Ensembl:ENST00000656872) - p.Leu160Phe (Ensembl:ENST00000340758) - c.478C>T (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs1189204069 | 160 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000001.11:g.206842566C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842566C>G Locations: - p.Leu160Val (Ensembl:ENST00000340758) - c.478C>G (Ensembl:ENST00000340758) - p.Leu160Val (Ensembl:ENST00000659997) - c.478C>G (Ensembl:ENST00000659997) - p.Leu160Val (Ensembl:ENST00000656872) - c.478C>G (Ensembl:ENST00000656872) - p.Leu160Val (Ensembl:ENST00000270218) - c.478C>G (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs745525215 | 161 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.214) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000001.11:g.206842571C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842571C>A Locations: - p.Asp161Glu (Ensembl:ENST00000659997) - c.483C>A (Ensembl:ENST00000659997) - p.Asp161Glu (Ensembl:ENST00000340758) - c.483C>A (Ensembl:ENST00000340758) - p.Asp161Glu (Ensembl:ENST00000270218) - c.483C>A (Ensembl:ENST00000270218) - p.Asp161Glu (Ensembl:ENST00000656872) - c.483C>A (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
COSV54284328 rs144719259 | 161 | D>N | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000001.11:g.206842569G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842569G>A Locations: - p.Asp161Asn (Ensembl:ENST00000656872) - c.481G>A (Ensembl:ENST00000656872) - p.Asp161Asn (Ensembl:ENST00000340758) - c.481G>A (Ensembl:ENST00000340758) - p.Asp161Asn (Ensembl:ENST00000659997) - c.481G>A (Ensembl:ENST00000659997) - p.Asp161Asn (Ensembl:ENST00000270218) - c.481G>A (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs144719259 | 161 | D>Y | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206842569G>T Codon: GAC/TAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842569G>T Locations: - p.Asp161Tyr (Ensembl:ENST00000656872) - c.481G>T (Ensembl:ENST00000656872) - p.Asp161Tyr (Ensembl:ENST00000270218) - c.481G>T (Ensembl:ENST00000270218) - p.Asp161Tyr (Ensembl:ENST00000340758) - c.481G>T (Ensembl:ENST00000340758) - p.Asp161Tyr (Ensembl:ENST00000659997) - c.481G>T (Ensembl:ENST00000659997) Source type: large scale study | |||||||
rs1470311516 | 162 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.639) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206842573T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842573T>C Locations: - p.Val162Ala (Ensembl:ENST00000656872) - c.485T>C (Ensembl:ENST00000656872) - p.Val162Ala (Ensembl:ENST00000270218) - c.485T>C (Ensembl:ENST00000270218) - p.Val162Ala (Ensembl:ENST00000340758) - c.485T>C (Ensembl:ENST00000340758) - p.Val162Ala (Ensembl:ENST00000659997) - c.485T>C (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
COSV54283916 rs560760235 | 162 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000001.11:g.206842572G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842572G>A Locations: - p.V162I (NCI-TCGA:ENST00000270218) - p.V162I (NCI-TCGA:ENST00000659997) - p.V162I (NCI-TCGA:ENST00000656872) - p.V162I (NCI-TCGA:ENST00000340758) - p.Val162Ile (Ensembl:ENST00000340758) - c.484G>A (Ensembl:ENST00000340758) - p.Val162Ile (Ensembl:ENST00000270218) - c.484G>A (Ensembl:ENST00000270218) - p.Val162Ile (Ensembl:ENST00000659997) - c.484G>A (Ensembl:ENST00000659997) - p.Val162Ile (Ensembl:ENST00000656872) - c.484G>A (Ensembl:ENST00000656872) Source type: large scale study | |||||||
rs560760235 | 162 | V>L | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.206842572G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842572G>C Locations: - p.Val162Leu (Ensembl:ENST00000270218) - c.484G>C (Ensembl:ENST00000270218) - p.Val162Leu (Ensembl:ENST00000659997) - c.484G>C (Ensembl:ENST00000659997) - p.Val162Leu (Ensembl:ENST00000656872) - c.484G>C (Ensembl:ENST00000656872) - p.Val162Leu (Ensembl:ENST00000340758) - c.484G>C (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
COSV99536448 | 164 | L>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206842578C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206842578C>G Locations: - p.Leu164Val (cosmic curated:ENST00000270218) - c.490C>G (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs768672561 | 167 | I>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000001.11:g.206842587A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842587A>G Locations: - p.Ile167Val (Ensembl:ENST00000270218) - c.499A>G (Ensembl:ENST00000270218) - p.Ile167Val (Ensembl:ENST00000340758) - c.499A>G (Ensembl:ENST00000340758) - p.Ile167Val (Ensembl:ENST00000656872) - c.499A>G (Ensembl:ENST00000656872) - p.Ile167Val (Ensembl:ENST00000659997) - c.499A>G (Ensembl:ENST00000659997) Source type: large scale study | |||||||
rs1677054660 | 168 | N>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000001.11:g.206842590A>G Codon: AAT/GAT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842590A>G Locations: - p.Asn168Asp (Ensembl:ENST00000659997) - c.502A>G (Ensembl:ENST00000659997) - p.Asn168Asp (Ensembl:ENST00000340758) - c.502A>G (Ensembl:ENST00000340758) - p.Asn168Asp (Ensembl:ENST00000656872) - c.502A>G (Ensembl:ENST00000656872) - p.Asn168Asp (Ensembl:ENST00000270218) - c.502A>G (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1677054756 | 169 | K>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.608) - SIFT: deleterious (0) Somatic: No Accession: NC_000001.11:g.206842595G>C Codon: AAG/AAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842595G>C Locations: - p.Lys169Asn (Ensembl:ENST00000656872) - c.507G>C (Ensembl:ENST00000656872) - p.Lys169Asn (Ensembl:ENST00000270218) - c.507G>C (Ensembl:ENST00000270218) - p.Lys169Asn (Ensembl:ENST00000340758) - c.507G>C (Ensembl:ENST00000340758) - p.Lys169Asn (Ensembl:ENST00000659997) - c.507G>C (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
rs913076620 | 170 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.823) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.206842598T>A Codon: AAT/AAA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842598T>A Locations: - p.Asn170Lys (Ensembl:ENST00000656872) - c.510T>A (Ensembl:ENST00000656872) - p.Asn170Lys (Ensembl:ENST00000659997) - c.510T>A (Ensembl:ENST00000659997) - p.Asn170Lys (Ensembl:ENST00000270218) - c.510T>A (Ensembl:ENST00000270218) - p.Asn170Lys (Ensembl:ENST00000340758) - c.510T>A (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs774399442 | 171 | H>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000001.11:g.206842599C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842599C>A Locations: - p.His171Asn (Ensembl:ENST00000659997) - c.511C>A (Ensembl:ENST00000659997) - p.His171Asn (Ensembl:ENST00000270218) - c.511C>A (Ensembl:ENST00000270218) - p.His171Asn (Ensembl:ENST00000340758) - c.511C>A (Ensembl:ENST00000340758) - p.His171Asn (Ensembl:ENST00000656872) - c.511C>A (Ensembl:ENST00000656872) Source type: large scale study Cross-references: | |||||||
rs1257350431 | 172 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000001.11:g.206842604A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842604A>C Locations: - p.Glu172Asp (Ensembl:ENST00000340758) - c.516A>C (Ensembl:ENST00000340758) - p.Glu172Asp (Ensembl:ENST00000656872) - c.516A>C (Ensembl:ENST00000656872) - p.Glu172Asp (Ensembl:ENST00000659997) - c.516A>C (Ensembl:ENST00000659997) - p.Glu172Asp (Ensembl:ENST00000270218) - c.516A>C (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
COSV54283112 | 172 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206842602G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000001.11:g.206842602G>A Locations: - p.Glu172Lys (cosmic curated:ENST00000270218) - c.514G>A (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs1345282777 | 173 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000001.11:g.206842605G>A Codon: GTA/ATA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842605G>A Locations: - p.Val173Ile (Ensembl:ENST00000656872) - c.517G>A (Ensembl:ENST00000656872) - p.Val173Ile (Ensembl:ENST00000340758) - c.517G>A (Ensembl:ENST00000340758) - p.Val173Ile (Ensembl:ENST00000270218) - c.517G>A (Ensembl:ENST00000270218) - p.Val173Ile (Ensembl:ENST00000659997) - c.517G>A (Ensembl:ENST00000659997) Source type: large scale study Cross-references: | |||||||
rs1356043862 | 174 | M>I | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.18) Somatic: No Accession: NC_000001.11:g.206842610G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842610G>A Locations: - p.Met174Ile (Ensembl:ENST00000656872) - c.522G>A (Ensembl:ENST00000656872) - p.Met174Ile (Ensembl:ENST00000659997) - c.522G>A (Ensembl:ENST00000659997) - p.Met174Ile (Ensembl:ENST00000270218) - c.522G>A (Ensembl:ENST00000270218) - p.Met174Ile (Ensembl:ENST00000340758) - c.522G>A (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs2102494736 | 174 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000001.11:g.206842609T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842609T>C Locations: - p.Met174Thr (Ensembl:ENST00000659997) - c.521T>C (Ensembl:ENST00000659997) - p.Met174Thr (Ensembl:ENST00000656872) - c.521T>C (Ensembl:ENST00000656872) - p.Met174Thr (Ensembl:ENST00000270218) - c.521T>C (Ensembl:ENST00000270218) - p.Met174Thr (Ensembl:ENST00000340758) - c.521T>C (Ensembl:ENST00000340758) Source type: large scale study Cross-references: | |||||||
rs761891620 | 174 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000001.11:g.206842608A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842608A>G Locations: - p.Met174Val (Ensembl:ENST00000340758) - c.520A>G (Ensembl:ENST00000340758) - p.Met174Val (Ensembl:ENST00000656872) - c.520A>G (Ensembl:ENST00000656872) - p.Met174Val (Ensembl:ENST00000270218) - c.520A>G (Ensembl:ENST00000270218) - p.Met174Val (Ensembl:ENST00000659997) - c.520A>G (Ensembl:ENST00000659997) Source type: large scale study | |||||||
rs2243191 | 175 | F>C | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000001.11:g.206842612T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842612T>G Locations: - p.Phe175Cys (Ensembl:ENST00000659997) - c.524T>G (Ensembl:ENST00000659997) - p.Phe175Cys (Ensembl:ENST00000340758) - c.524T>G (Ensembl:ENST00000340758) - p.Phe175Cys (Ensembl:ENST00000656872) - c.524T>G (Ensembl:ENST00000656872) - p.Phe175Cys (Ensembl:ENST00000270218) - c.524T>G (Ensembl:ENST00000270218) Source type: large scale study Cross-references: | |||||||
TCGA novel rs1465898723 | 175 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000001.11:g.206842613C>A, NC_000001.11:g.206842613C>G Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842613C>A, NC_000001.11:g.206842613C>G Locations: - c.525C>A (NCI-TCGA:ENST00000270218) - p.F175L (NCI-TCGA:ENST00000270218) - p.Phe175Leu (Ensembl:ENST00000270218) - c.525C>G (Ensembl:ENST00000270218) - p.Phe175Leu (Ensembl:ENST00000659997) - c.525C>G (Ensembl:ENST00000659997) - p.Phe175Leu (Ensembl:ENST00000656872) - c.525C>G (Ensembl:ENST00000656872) - p.Phe175Leu (Ensembl:ENST00000340758) - c.525C>G (Ensembl:ENST00000340758) Source type: large scale study | |||||||
VAR_013077 COSV54282787 rs2243191 | 175 | F>S | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000001.11:g.206842612T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842612T>C Locations: - p.Phe175Ser (UniProt:Q9UHD0) Source type: mixed | |||||||
COSV54284350 | 176 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000001.11:g.206842615C>T Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842615C>T Locations: - p.S176L (NCI-TCGA:ENST00000270218) - p.Ser176Leu (cosmic curated:ENST00000270218) - c.527C>T (cosmic curated:ENST00000270218) Source type: large scale study Cross-references: | |||||||
rs370571915 | 176 | S>P | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000001.11:g.206842614T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842614T>C Locations: - p.Ser176Pro (Ensembl:ENST00000659997) - c.526T>C (Ensembl:ENST00000659997) - p.Ser176Pro (Ensembl:ENST00000270218) - c.526T>C (Ensembl:ENST00000270218) - p.Ser176Pro (Ensembl:ENST00000340758) - c.526T>C (Ensembl:ENST00000340758) - p.Ser176Pro (Ensembl:ENST00000656872) - c.526T>C (Ensembl:ENST00000656872) Source type: large scale study | |||||||
rs1260992687 | 177 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.314) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000001.11:g.206842618C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 1q32.1 Genomic location: NC_000001.11:g.206842618C>T Locations: - p.Ala177Val (Ensembl:ENST00000659997) - c.530C>T (Ensembl:ENST00000659997) - p.Ala177Val (Ensembl:ENST00000270218) - c.530C>T (Ensembl:ENST00000270218) - p.Ala177Val (Ensembl:ENST00000340758) - c.530C>T (Ensembl:ENST00000340758) - p.Ala177Val (Ensembl:ENST00000656872) - c.530C>T (Ensembl:ENST00000656872) Source type: large scale study Cross-references: |