E5RGA6 · E5RGA6_HUMAN
- ProteinProtein tyrosine kinase 2
- GenePTK2
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids156 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV61782113 rs775490424 | 2 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.364) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000003979 (gnomAD) Accession: NC_000008.11:g.140890734C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890734C>T Locations: - p.A2T (NCI-TCGA:ENST00000520475) - p.Ala2Thr (Ensembl:ENST00000520475) - c.4G>A (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs765127207 | 3 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890730G>C Codon: GCT/GGT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890730G>C Locations: - p.Ala3Gly (Ensembl:ENST00000520475) - c.8C>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs759346189 | 4 | A>D | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.569) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890727G>T Codon: GCT/GAT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890727G>T Locations: - p.Ala4Asp (Ensembl:ENST00000520475) - c.11C>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
COSV61782940 rs886465125 | 5 | Y>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Somatic: Yes Accession: NC_000008.11:g.140890723G>T Codon: TAC/TAA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890723G>T Locations: - p.Y5* (NCI-TCGA:ENST00000520475) - p.Tyr5Ter (Ensembl:ENST00000520475) - c.15C>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs773588358 | 5 | Y>F | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890724T>A Codon: TAC/TTC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890724T>A Locations: - p.Tyr5Phe (Ensembl:ENST00000520475) - c.14A>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs748382315 | 7 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890717G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890717G>T Locations: - p.Asp7Glu (Ensembl:ENST00000520475) - c.21C>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs772377748 | 7 | D>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890719C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890719C>G Locations: - p.Asp7His (Ensembl:ENST00000520475) - c.19G>C (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1600928471 | 9 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890713T>G Codon: AAC/CAC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890713T>G Locations: - p.Asn9His (Ensembl:ENST00000520475) - c.25A>C (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs774353002 | 9 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.189) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890712T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890712T>C Locations: - p.Asn9Ser (Ensembl:ENST00000520475) - c.26A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs2100153946 | 11 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.262) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890705A>C Codon: AAT/AAG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890705A>C Locations: - p.Asn11Lys (Ensembl:ENST00000520475) - c.33T>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs2100153944 | 13 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.140890701T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890701T>C Locations: - p.Thr13Ala (Ensembl:ENST00000520475) - c.37A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs191376716 | 14 | P>S | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890698G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890698G>A Locations: - p.Pro14Ser (Ensembl:ENST00000520475) - c.40C>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs191376716 | 14 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00004377 (gnomAD) Accession: NC_000008.11:g.140890698G>T Codon: CCA/ACA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890698G>T Locations: - p.P14T (NCI-TCGA:ENST00000520475) - p.Pro14Thr (Ensembl:ENST00000520475) - c.40C>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1466770413 | 15 | N>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890695T>C Codon: AAT/GAT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890695T>C Locations: - p.Asn15Asp (Ensembl:ENST00000520475) - c.43A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1600927451 | 15 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890693A>T Codon: AAT/AAA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890693A>T Locations: - p.Asn15Lys (Ensembl:ENST00000520475) - c.45T>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs2100153940 | 16 | S>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890692A>C Codon: TCG/GCG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890692A>C Locations: - p.Ser16Ala (Ensembl:ENST00000520475) - c.46T>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
COSV61783330 rs879079754 | 16 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.140890691G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890691G>A Locations: - p.S16L (NCI-TCGA:ENST00000520475) - p.Ser16Leu (Ensembl:ENST00000520475) - c.47C>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs746193983 | 17 | S>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.117) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890688C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890688C>A Locations: - p.Ser17Ile (Ensembl:ENST00000520475) - c.50G>T (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs746193983 | 17 | S>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890688C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890688C>T Locations: - p.Ser17Asn (Ensembl:ENST00000520475) - c.50G>A (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs1363478606 | 18 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000008.11:g.140890686T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890686T>C Locations: - p.Thr18Ala (Ensembl:ENST00000520475) - c.52A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs372781106 | 18 | T>I | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890685G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890685G>A Locations: - p.Thr18Ile (Ensembl:ENST00000520475) - c.53C>T (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs1234636553 | 19 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.388) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890683T>C Codon: AAG/GAG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890683T>C Locations: - p.Lys19Glu (Ensembl:ENST00000520475) - c.55A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs756906833 | 20 | T>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.140890680T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890680T>C Locations: - p.Thr20Ala (Ensembl:ENST00000520475) - c.58A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs368816484 | 21 | H>Y | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890677G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890677G>A Locations: - p.His21Tyr (Ensembl:ENST00000520475) - c.61C>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs777211634 | 22 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.111) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890674G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890674G>C Locations: - p.Leu22Val (Ensembl:ENST00000520475) - c.64C>G (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs2100153929 | 23 | G>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890670C>G Codon: GGT/GCT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890670C>G Locations: - p.Gly23Ala (Ensembl:ENST00000520475) - c.68G>C (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs757857508 | 24 | T>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.15) Somatic: No Accession: NC_000008.11:g.140890668T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890668T>C Locations: - p.Thr24Ala (Ensembl:ENST00000520475) - c.70A>G (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs752695283 | 25 | G>V | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890664C>A Codon: GGT/GTT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890664C>A Locations: - p.Gly25Val (Ensembl:ENST00000520475) - c.74G>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs187615056 | 26 | M>I | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000008.11:g.140890660C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890660C>T Locations: - p.Met26Ile (Ensembl:ENST00000520475) - c.78G>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs2100153922 | 26 | M>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000008.11:g.140890662T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890662T>C Locations: - p.Met26Val (Ensembl:ENST00000520475) - c.76A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
COSV61786949 rs759434032 | 28 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.478) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.140890656G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890656G>A Locations: - p.R28C (NCI-TCGA:ENST00000520475) - p.Arg28Cys (Ensembl:ENST00000520475) - c.82C>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs759434032 | 28 | R>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.066) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890656G>C Codon: CGT/GGT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890656G>C Locations: - p.Arg28Gly (Ensembl:ENST00000520475) - c.82C>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs2100153918 | 29 | S>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.268) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890652G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890652G>T Locations: - p.Ser29Tyr (Ensembl:ENST00000520475) - c.86C>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs766185287 | 30 | P>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890650G>C Codon: CCT/GCT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890650G>C Locations: - p.Pro30Ala (Ensembl:ENST00000520475) - c.88C>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs762007942 | 30 | P>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.778) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890649G>T Codon: CCT/CAT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890649G>T Locations: - p.Pro30His (Ensembl:ENST00000520475) - c.89C>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs766185287 | 30 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890650G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890650G>A Locations: - p.Pro30Ser (Ensembl:ENST00000520475) - c.88C>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs2100153913 | 32 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000008.11:g.140890644C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890644C>T Locations: - p.Ala32Thr (Ensembl:ENST00000520475) - c.94G>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1252621560 | 34 | E>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.140890638C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890638C>A Locations: - p.Glu34Ter (Ensembl:ENST00000520475) - c.100G>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs2100153910 | 37 | L>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.140890628A>C Codon: TTA/TGA Consequence type: stop gained Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890628A>C Locations: - p.Leu37Ter (Ensembl:ENST00000520475) - c.110T>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1798536575 | 45 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.57) Somatic: No Accession: NC_000008.11:g.140890604C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890604C>T Locations: - p.Ser45Asn (Ensembl:ENST00000520475) - c.134G>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs776011186 | 46 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.83) Somatic: No Accession: NC_000008.11:g.140890601T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890601T>C Locations: - p.Asn46Ser (Ensembl:ENST00000520475) - c.137A>G (Ensembl:ENST00000520475) Source type: large scale study | |||||||
COSV100569426 rs374554975 | 47 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Population frequencies: - MAF: 0.000003982 (gnomAD) Accession: NC_000008.11:g.140890598C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890598C>T Locations: - p.S47N (NCI-TCGA:ENST00000520475) - p.Ser47Asn (Ensembl:ENST00000520475) - c.140G>A (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs2100153902 | 47 | S>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890599T>G Codon: AGT/CGT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890599T>G Locations: - p.Ser47Arg (Ensembl:ENST00000520475) - c.139A>C (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
COSV61784631 rs994914693 | 48 | E>G | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.961) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.140890595T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890595T>C Locations: - p.Glu48Gly (Ensembl:ENST00000520475) - c.143A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs746349246 | 53 | A>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890581C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890581C>T Locations: - p.Ala53Thr (Ensembl:ENST00000520475) - c.157G>A (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs1201350980 | 54 | S>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890577C>A Codon: AGT/ATT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890577C>A Locations: - p.Ser54Ile (Ensembl:ENST00000520475) - c.161G>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1460434678 | 56 | I>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890570G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890570G>C Locations: - p.Ile56Met (Ensembl:ENST00000520475) - c.168C>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1193782301 | 57 | R>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.743) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890568C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890568C>T Locations: - p.Arg57Lys (Ensembl:ENST00000520475) - c.170G>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs2100153884 | 62 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890554T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890554T>C Locations: - p.Thr62Ala (Ensembl:ENST00000520475) - c.184A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1198241245 | 64 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890548C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890548C>T Locations: - p.Val64Ile (Ensembl:ENST00000520475) - c.190G>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs752213271 | 65 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.06) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890544C>T Codon: AGG/AAG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890544C>T Locations: - p.Arg65Lys (Ensembl:ENST00000520475) - c.194G>A (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs752213271 | 65 | R>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.376) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140890544C>G Codon: AGG/ACG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140890544C>G Locations: - p.Arg65Thr (Ensembl:ENST00000520475) - c.194G>C (Ensembl:ENST00000520475) Source type: large scale study | |||||||
COSV61783049 rs2100147729 | 66 | G>V | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.140879636C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879636C>A Locations: - p.Gly66Val (Ensembl:ENST00000520475) - c.197G>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs2100147722 | 69 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.327) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879627T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879627T>C Locations: - p.Gln69Arg (Ensembl:ENST00000520475) - c.206A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs778633667 | 71 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879622T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879622T>C Locations: - p.Ile71Val (Ensembl:ENST00000520475) - c.211A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs2100147720 | 72 | V>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879618A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879618A>G Locations: - p.Val72Ala (Ensembl:ENST00000520475) - c.215T>C (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs141575134 | 74 | S>T | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879612C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879612C>G Locations: - p.Ser74Thr (Ensembl:ENST00000520475) - c.221G>C (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs2100147715 | 77 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879604C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879604C>T Locations: - p.Val77Ile (Ensembl:ENST00000520475) - c.229G>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
COSV61785583 rs749253117 | 79 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00000399 (gnomAD) Accession: NC_000008.11:g.140879598G>A Codon: CAT/TAT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879598G>A Locations: - p.H79Y (NCI-TCGA:ENST00000520475) - p.His79Tyr (Ensembl:ENST00000520475) - c.235C>T (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs1156453284 | 81 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879591G>C Codon: GCC/GGC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879591G>C Locations: - p.Ala81Gly (Ensembl:ENST00000520475) - c.242C>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs755894891 | 81 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000008.11:g.140879592C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879592C>A Locations: - p.Ala81Ser (Ensembl:ENST00000520475) - c.241G>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1163231407 | 83 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.769) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879585T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879585T>C Locations: - p.Tyr83Cys (Ensembl:ENST00000520475) - c.248A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs750277139 | 85 | F>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.303) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879579A>C Codon: TTC/TGC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879579A>C Locations: - p.Phe85Cys (Ensembl:ENST00000520475) - c.254T>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs906839481 | 85 | F>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879580A>C Codon: TTC/GTC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879580A>C Locations: - p.Phe85Val (Ensembl:ENST00000520475) - c.253T>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
COSV61782183 rs1179929431 | 86 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.00000398 (gnomAD) Accession: NC_000008.11:g.140879577G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879577G>A Locations: - p.R86C (NCI-TCGA:ENST00000520475) - p.Arg86Cys (Ensembl:ENST00000520475) - c.256C>T (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs567773573 | 86 | R>H | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.974) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879576C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879576C>T Locations: - p.Arg86His (Ensembl:ENST00000520475) - c.257G>A (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs567773573 | 86 | R>L | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.326) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879576C>A Codon: CGC/CTC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879576C>A Locations: - p.Arg86Leu (Ensembl:ENST00000520475) - c.257G>T (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs56051231 | 89 | H>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879567T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879567T>G Locations: - p.His89Pro (Ensembl:ENST00000520475) - c.266A>C (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs55903738 | 89 | H>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.667) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879566G>T Codon: CAC/CAA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879566G>T Locations: - p.His89Gln (Ensembl:ENST00000520475) - c.267C>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1687166375 | 91 | R>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879561C>A Codon: CGG/CTG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879561C>A Locations: - p.Arg91Leu (Ensembl:ENST00000520475) - c.272G>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
COSV61783246 rs1687166375 | 91 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000008.11:g.140879561C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879561C>T Locations: - p.R91Q (NCI-TCGA:ENST00000520475) - p.Arg91Gln (Ensembl:ENST00000520475) - c.272G>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
COSV100569343 rs879216797 | 91 | R>W | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.140879562G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879562G>A Locations: - p.Arg91Trp (Ensembl:ENST00000520475) - c.271C>T (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs1281085185 | 94 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879551C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879551C>A Locations: - p.Glu94Asp (Ensembl:ENST00000520475) - c.282G>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs759551846 | 95 | V>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.279) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879550C>A Codon: GTT/TTT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879550C>A Locations: - p.Val95Phe (Ensembl:ENST00000520475) - c.283G>T (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs777025498 | 95 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879549A>C Codon: GTT/GGT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879549A>C Locations: - p.Val95Gly (Ensembl:ENST00000520475) - c.284T>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs761055281 | 96 | H>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.776) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879546T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879546T>C Locations: - p.His96Arg (Ensembl:ENST00000520475) - c.287A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs766867826 | 96 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.699) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879547G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879547G>A Locations: - p.His96Tyr (Ensembl:ENST00000520475) - c.286C>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
COSV100569368 rs772561132 | 100 | V>M | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.052) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.140879535C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879535C>T Locations: - p.Val100Met (Ensembl:ENST00000520475) - c.298G>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1314361592 | 101 | D>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879532C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879532C>T Locations: - p.Asp101Asn (Ensembl:ENST00000520475) - c.301G>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1360701056 | 102 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879527C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879527C>T Locations: - p.Met102Ile (Ensembl:ENST00000520475) - c.306G>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs747807231 | 102 | M>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879529T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879529T>A Locations: - p.Met102Leu (Ensembl:ENST00000520475) - c.304A>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
COSV61790818 rs747807231 | 102 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.073) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000007959 (gnomAD) Accession: NC_000008.11:g.140879529T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879529T>C Locations: - p.M102V (NCI-TCGA:ENST00000520475) - p.Met102Val (Ensembl:ENST00000520475) - c.304A>G (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs2100147678 | 103 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.806) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879526C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879526C>T Locations: - p.Gly103Ser (Ensembl:ENST00000520475) - c.307G>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
COSV61783021 rs200017517 | 104 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.946) - SIFT: deleterious - low confidence (0) Somatic: Yes Population frequencies: - MAF: 0.000007964 (gnomAD) Accession: NC_000008.11:g.140879523C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879523C>T Locations: - p.V104I (NCI-TCGA:ENST00000520475) - p.Val104Ile (Ensembl:ENST00000520475) - c.310G>A (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs1385276601 | 106 | S>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879517T>C Codon: AGT/GGT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879517T>C Locations: - p.Ser106Gly (Ensembl:ENST00000520475) - c.316A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs868400822 | 107 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879514C>A Codon: GTG/TTG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879514C>A Locations: - p.Val107Leu (Ensembl:ENST00000520475) - c.319G>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs748770277 | 111 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879501T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879501T>C Locations: - p.Tyr111Cys (Ensembl:ENST00000520475) - c.332A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs748770277 | 111 | Y>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000008.11:g.140879501T>A Codon: TAT/TTT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879501T>A Locations: - p.Tyr111Phe (Ensembl:ENST00000520475) - c.332A>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs2100147663 | 112 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.735) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879499C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879499C>G Locations: - p.Glu112Gln (Ensembl:ENST00000520475) - c.334G>C (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs779404026 | 113 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879496G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879496G>A Locations: - p.Leu113Phe (Ensembl:ENST00000520475) - c.337C>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1228582279 | 113 | L>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879495A>T Codon: CTT/CAT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879495A>T Locations: - p.Leu113His (Ensembl:ENST00000520475) - c.338T>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1228582279 | 113 | L>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.865) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879495A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879495A>G Locations: - p.Leu113Pro (Ensembl:ENST00000520475) - c.338T>C (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs756130164 | 114 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879492G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879492G>A Locations: - p.Ala114Val (Ensembl:ENST00000520475) - c.341C>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs72683792 | 115 | H>Y | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.384) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879490G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879490G>A Locations: - p.His115Tyr (Ensembl:ENST00000520475) - c.343C>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
COSV61782687 rs2100147651 | 116 | P>S | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.140879487G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879487G>A Locations: - p.Pro116Ser (Ensembl:ENST00000520475) - c.346C>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1214040757 | 117 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879484G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879484G>A Locations: - p.Pro117Ser (Ensembl:ENST00000520475) - c.349C>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs71514694 | 118 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140879481C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879481C>T Locations: - p.Glu118Lys (Ensembl:ENST00000520475) - c.352G>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1287065872 | 119 | E>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000008.11:g.140879478C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140879478C>A Locations: - p.Glu119Ter (Ensembl:ENST00000520475) - c.355G>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs755415308 | 122 | Y>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140864398A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864398A>G Locations: - p.Tyr122His (Ensembl:ENST00000520475) - c.364T>C (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs1318342271 | 126 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140864386T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864386T>C Locations: - p.Ile126Val (Ensembl:ENST00000520475) - c.376A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
COSV61785450 rs1402739520 | 127 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.140864383G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864383G>A Locations: - p.R127C (NCI-TCGA:ENST00000520475) - p.Arg127Cys (Ensembl:ENST00000520475) - c.379C>T (Ensembl:ENST00000520475) Source type: large scale study | |||||||
COSV105239372 rs1284764718 | 127 | R>H | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.835) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.140864382C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864382C>T Locations: - p.Arg127His (Ensembl:ENST00000520475) - c.380G>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1344432751 | 129 | L>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140864376A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864376A>G Locations: - p.Leu129Ser (Ensembl:ENST00000520475) - c.386T>C (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1226596183 | 131 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140864371T>C Codon: AAA/GAA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864371T>C Locations: - p.Lys131Glu (Ensembl:ENST00000520475) - c.391A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1226596183 | 131 | K>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.703) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140864371T>G Codon: AAA/CAA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864371T>G Locations: - p.Lys131Gln (Ensembl:ENST00000520475) - c.391A>C (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1189962612 | 134 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140864361A>G Codon: CTA/CCA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864361A>G Locations: - p.Leu134Pro (Ensembl:ENST00000520475) - c.401T>C (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1438045313 | 136 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140864354C>G Codon: CAG/CAC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864354C>G Locations: - p.Gln136His (Ensembl:ENST00000520475) - c.408G>C (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs775128110 | 136 | Q>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140864355T>A Codon: CAG/CTG Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864355T>A Locations: - p.Gln136Leu (Ensembl:ENST00000520475) - c.407A>T (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs369173327 | 138 | T>A | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.216) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140864350T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864350T>C Locations: - p.Thr138Ala (Ensembl:ENST00000520475) - c.412A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs878943368 | 138 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.554) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140864349G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864349G>A Locations: - p.Thr138Ile (Ensembl:ENST00000520475) - c.413C>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs369173327 | 138 | T>P | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140864350T>G Codon: ACT/CCT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864350T>G Locations: - p.Thr138Pro (Ensembl:ENST00000520475) - c.412A>C (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs2100137998 | 139 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.886) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140864346T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864346T>G Locations: - p.Glu139Ala (Ensembl:ENST00000520475) - c.416A>C (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1479246001 | 142 | P>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140864338G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864338G>A Locations: - p.Pro142Ser (Ensembl:ENST00000520475) - c.424C>T (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs1169038086 | 145 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140864328T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864328T>C Locations: - p.Asn145Ser (Ensembl:ENST00000520475) - c.434A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs765564003 | 147 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.065) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140864323A>G Codon: TTC/CTC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864323A>G Locations: - p.Phe147Leu (Ensembl:ENST00000520475) - c.439T>C (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
COSV61793472 rs1690750608 | 148 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000008.11:g.140864319T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864319T>C Locations: - p.Y148C (NCI-TCGA:ENST00000520475) - p.Tyr148Cys (Ensembl:ENST00000520475) - c.443A>G (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs780931637 | 149 | Q>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140864315T>A Codon: CAA/CAT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140864315T>A Locations: - p.Gln149His (Ensembl:ENST00000520475) - c.447A>T (Ensembl:ENST00000520475) Source type: large scale study | |||||||
rs1429836651 | 153 | S>N | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000008.11:g.140846671C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140846671C>T Locations: - p.Ser153Asn (Ensembl:ENST00000520475) - c.458G>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: | |||||||
rs878966709 | 154 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.909) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000008.11:g.140846669C>T Codon: GAT/AAT Consequence type: missense Cytogenetic band: 8q24.3 Genomic location: NC_000008.11:g.140846669C>T Locations: - p.Asp154Asn (Ensembl:ENST00000520475) - c.460G>A (Ensembl:ENST00000520475) Source type: large scale study Cross-references: |