Q712K3 · UB2R2_HUMAN
- ProteinUbiquitin-conjugating enzyme E2 R2
- GeneUBE2R2
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids238 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
rs1157129620 | 3 | Q>E | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.33817764C>G Codon: CAG/GAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817764C>G Locations: - p.Gln3Glu (Ensembl:ENST00000263228) - c.7C>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1825839802 | 3 | Q>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.42) Somatic: No Accession: NC_000009.12:g.33817765A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817765A>G Locations: - p.Gln3Arg (Ensembl:ENST00000263228) - c.8A>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs751441666 | 7 | T>P | ExAC | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000009.12:g.33817776A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817776A>C Locations: - p.Thr7Pro (Ensembl:ENST00000263228) - c.19A>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs374398571 | 7 | T>S | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.98) Somatic: No Accession: NC_000009.12:g.33817777C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817777C>G Locations: - p.Thr7Ser (Ensembl:ENST00000263228) - c.20C>G (Ensembl:ENST00000263228) Source type: large scale study | |||||||
rs1825840192 | 8 | S>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.33817780G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817780G>C Locations: - p.Ser8Thr (Ensembl:ENST00000263228) - c.23G>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1313934825 | 10 | Q>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.27) Somatic: No Accession: NC_000009.12:g.33817787G>T Codon: CAG/CAT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817787G>T Locations: - p.Gln10His (Ensembl:ENST00000263228) - c.30G>T (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1483427337 | 15 | L>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated (0.05) Somatic: No Accession: NC_000009.12:g.33817800C>G Codon: CTC/GTC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817800C>G Locations: - p.Leu15Val (Ensembl:ENST00000263228) - c.43C>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
TCGA novel | 16 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.779) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000009.12:g.33817803G>C Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817803G>C Locations: - c.46G>C (NCI-TCGA:ENST00000263228) - p.E16Q (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1825841348 | 17 | L>V | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.33817806C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817806C>G Locations: - p.Leu17Val (Ensembl:ENST00000263228) - c.49C>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1192179319 | 22 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.33817821G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817821G>C Locations: - p.Glu22Gln (Ensembl:ENST00000263228) - c.64G>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs768044164 | 28 | F>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.33817840T>G Codon: TTC/TGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817840T>G Locations: - p.Phe28Cys (Ensembl:ENST00000263228) - c.83T>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs768044164 | 28 | F>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.33817840T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817840T>C Locations: - p.Phe28Ser (Ensembl:ENST00000263228) - c.83T>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1411313910 | 30 | I>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000009.12:g.33817845A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817845A>G Locations: - p.Ile30Val (Ensembl:ENST00000263228) - c.88A>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs562704491 | 33 | V>L | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000009.12:g.33817854G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817854G>C Locations: - p.Val33Leu (Ensembl:ENST00000263228) - c.97G>C (Ensembl:ENST00000263228) Source type: large scale study | |||||||
rs777095492 | 34 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000009.12:g.33817859C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817859C>G Locations: - p.Asp34Glu (Ensembl:ENST00000263228) - c.102C>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1825843207 | 34 | D>N | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.42) Somatic: No Accession: NC_000009.12:g.33817857G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817857G>A Locations: - p.Asp34Asn (Ensembl:ENST00000263228) - c.100G>A (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs2130696434 | 39 | Y>H | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.33817872T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817872T>C Locations: - p.Tyr39His (Ensembl:ENST00000263228) - c.115T>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs775570979 | 43 | V>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.33817884G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817884G>A Locations: - p.Val43Met (Ensembl:ENST00000263228) - c.127G>A (Ensembl:ENST00000263228) Source type: large scale study | |||||||
rs1217341706 | 45 | I>V | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.33817890A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817890A>G Locations: - p.Ile45Val (Ensembl:ENST00000263228) - c.133A>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
TCGA novel | 46 | F>S | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000009.12:g.33817893del Consequence type: frameshift Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817893del Locations: - c.137del (NCI-TCGA:ENST00000263228) - p.F46Sfs*33 (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs929406674 | 46 | F>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33817893T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817893T>G Locations: - p.Phe46Val (Ensembl:ENST00000263228) - c.136T>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1825844576 | 48 | P>T | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33817899C>A Codon: CCC/ACC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817899C>A Locations: - p.Pro48Thr (Ensembl:ENST00000263228) - c.142C>A (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV54289002 | 49 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.33817903C>T Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817903C>T Locations: - c.146C>T (NCI-TCGA:ENST00000263228) - p.P49L (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs751522919 | 50 | N>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.33817905A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817905A>C Locations: - p.Asn50His (Ensembl:ENST00000263228) - c.148A>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1825845260 | 50 | N>K | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000009.12:g.33817907C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817907C>G Locations: - p.Asn50Lys (Ensembl:ENST00000263228) - c.150C>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs909348288 | 50 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000009.12:g.33817906A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817906A>G Locations: - p.Asn50Ser (Ensembl:ENST00000263228) - c.149A>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1825845369 | 51 | T>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33817908A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817908A>C Locations: - p.Thr51Pro (Ensembl:ENST00000263228) - c.151A>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1248749068 | 54 | E>D | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33817919A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817919A>C Locations: - p.Glu54Asp (Ensembl:ENST00000263228) - c.162A>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1825845890 | 56 | G>S | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.33817923G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817923G>A Locations: - p.Gly56Ser (Ensembl:ENST00000263228) - c.166G>A (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV99601926 | 57 | Y>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.33817926T>C Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33817926T>C Locations: - c.169T>C (NCI-TCGA:ENST00000263228) - p.Y57H (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV54291188 rs767478191 | 60 | A>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP | |||
Consequence: - Somatic: No Population frequencies: - MAF: 0.00001875 (gnomAD) Accession: NC_000009.12:g.33886883G>A Consequence type: - Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886883G>A Locations: - c.180G>A (NCI-TCGA:ENST00000263228) - p.A60= (NCI-TCGA:ENST00000263228) Source type: large scale study | |||||||
rs1249869746 | 60 | A>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33886881G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886881G>A Locations: - p.Ala60Thr (Ensembl:ENST00000263228) - c.178G>A (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs926251179 | 60 | A>V | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.33886882C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886882C>T Locations: - p.Ala60Val (Ensembl:ENST00000263228) - c.179C>T (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs750352043 | 61 | H>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000009.12:g.33886886T>G Codon: CAT/CAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886886T>G Locations: - p.His61Gln (Ensembl:ENST00000263228) - c.183T>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1056601087 | 61 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000009.12:g.33886884C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886884C>T Locations: - p.His61Tyr (Ensembl:ENST00000263228) - c.181C>T (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs952222575 | 63 | K>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.33886891A>T Codon: AAA/ATA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886891A>T Locations: - p.Lys63Ile (Ensembl:ENST00000263228) - c.188A>T (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs952222575 | 63 | K>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000009.12:g.33886891A>C Codon: AAA/ACA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886891A>C Locations: - p.Lys63Thr (Ensembl:ENST00000263228) - c.188A>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV54288350 | 65 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.33886896C>T Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886896C>T Locations: - c.193C>T (NCI-TCGA:ENST00000263228) - p.P65S (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs766028687 | 66 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000009.12:g.33886900T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886900T>C Locations: - p.Ile66Thr (Ensembl:ENST00000263228) - c.197T>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs142075824 | 66 | I>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.37) Somatic: No Accession: NC_000009.12:g.33886899A>G Codon: ATT/GTT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886899A>G Locations: - p.Ile66Val (Ensembl:ENST00000263228) - c.196A>G (Ensembl:ENST00000263228) Source type: large scale study | |||||||
rs1482314218 | 67 | D>E | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33886904C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886904C>G Locations: - p.Asp67Glu (Ensembl:ENST00000263228) - c.201C>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1207326879 | 75 | F>L | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000009.12:g.33886928C>G Codon: TTC/TTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886928C>G Locations: - p.Phe75Leu (Ensembl:ENST00000263228) - c.225C>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1821872023 | 79 | T>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000009.12:g.33886939C>G Codon: ACC/AGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886939C>G Locations: - p.Thr79Ser (Ensembl:ENST00000263228) - c.236C>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1564000408 | 80 | K>R | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000009.12:g.33886942A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886942A>G Locations: - p.Lys80Arg (Ensembl:ENST00000263228) - c.239A>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV54290417 | 85 | N>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.33886956A>G Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886956A>G Locations: - c.253A>G (NCI-TCGA:ENST00000263228) - p.N85D (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs112637167 | 85 | N>H | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.33886956A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886956A>C Locations: - p.Asn85His (Ensembl:ENST00000263228) - c.253A>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs113299589 | 85 | N>T | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33886957A>C Codon: AAC/ACC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886957A>C Locations: - p.Asn85Thr (Ensembl:ENST00000263228) - c.254A>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs752304792 | 87 | Y>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33886963A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886963A>G Locations: - p.Tyr87Cys (Ensembl:ENST00000263228) - c.260A>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1247979664 | 87 | Y>H | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.33886962T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886962T>C Locations: - p.Tyr87His (Ensembl:ENST00000263228) - c.259T>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
TCGA novel | 88 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.131) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000009.12:g.33886967G>C Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886967G>C Locations: - c.264G>C (NCI-TCGA:ENST00000263228) - p.E88D (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs113727596 | 88 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: deleterious (0.05) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.33886965G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33886965G>A Locations: - p.E88K (NCI-TCGA:ENST00000263228) - p.Glu88Lys (Ensembl:ENST00000263228) - c.262G>A (Ensembl:ENST00000263228) Source type: large scale study | |||||||
TCGA novel | 91 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.843) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000009.12:g.33900180G>T Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33900180G>T Locations: - c.271G>T (NCI-TCGA:ENST00000263228) - p.D91Y (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2130809579 | 93 | C>R | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33900186T>C Codon: TGC/CGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33900186T>C Locations: - p.Cys93Arg (Ensembl:ENST00000263228) - c.277T>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV54287534 rs2130809584 | 95 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) - SIFT: deleterious - low confidence (0.04) Somatic: Yes Accession: NC_000009.12:g.33900193C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33900193C>T Locations: - p.S95L (NCI-TCGA:ENST00000263228) - p.Ser95Leu (Ensembl:ENST00000263228) - c.284C>T (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV99602353 | 98 | H>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.33900202A>T Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33900202A>T Locations: - c.293A>T (NCI-TCGA:ENST00000263228) - p.H98L (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1363142234 | 98 | H>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33900202A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33900202A>G Locations: - p.His98Arg (Ensembl:ENST00000263228) - c.293A>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV54292068 | 98 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.924) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.33900201C>T Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33900201C>T Locations: - c.292C>T (NCI-TCGA:ENST00000263228) - p.H98Y (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV54292003 rs757997369 | 99 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic 1000Genomes ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.462) - SIFT: deleterious (0.03) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33900205C>T Codon: CCG/CTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33900205C>T Locations: - p.P99L (NCI-TCGA:ENST00000263228) - p.Pro99Leu (Ensembl:ENST00000263228) - c.296C>T (Ensembl:ENST00000263228) Source type: large scale study | |||||||
COSV54291793 | 105 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.275) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000009.12:g.33900224G>C Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33900224G>C Locations: - c.315G>C (NCI-TCGA:ENST00000263228) - p.Q105H (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV54288367 | 111 | S>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.854) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000009.12:g.33900240T>A Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33900240T>A Locations: - c.331T>A (NCI-TCGA:ENST00000263228) - p.S111T (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV54288307 | 112 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000009.12:g.33900243G>A Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33900243G>A Locations: - c.334G>A (NCI-TCGA:ENST00000263228) - p.E112K (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs750997097 | 121 | R>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33900271G>A Codon: AGG/AAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33900271G>A Locations: - p.Arg121Lys (Ensembl:ENST00000263228) - c.362G>A (Ensembl:ENST00000263228) Source type: large scale study | |||||||
rs1212018439 | 123 | I>N | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33911969T>A Codon: ATC/AAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33911969T>A Locations: - p.Ile123Asn (Ensembl:ENST00000263228) - c.368T>A (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV54287448 | 128 | I>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.621) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000009.12:g.33911985C>G Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33911985C>G Locations: - c.384C>G (NCI-TCGA:ENST00000263228) - p.I128M (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: | |||||||
TCGA novel | 129 | S>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000009.12:g.33911987C>G Consequence type: stop gained Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33911987C>G Locations: - c.386C>G (NCI-TCGA:ENST00000263228) - p.S129* (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs979918615 | 136 | T>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33912007A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912007A>C Locations: - p.Thr136Pro (Ensembl:ENST00000263228) - c.406A>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV54288730 rs1343682995 | 138 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: deleterious (0.02) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00000398 (gnomAD) Accession: NC_000009.12:g.33912014C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912014C>G Locations: - p.S138C (NCI-TCGA:ENST00000263228) - p.Ser138Cys (Ensembl:ENST00000263228) - c.413C>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1587485400 | 138 | S>P | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33912013T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912013T>C Locations: - p.Ser138Pro (Ensembl:ENST00000263228) - c.412T>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
TCGA novel | 139 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.33912017C>T Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912017C>T Locations: - c.416C>T (NCI-TCGA:ENST00000263228) - p.P139L (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1822503615 | 139 | P>S | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33912016C>T Codon: CCA/TCA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912016C>T Locations: - p.Pro139Ser (Ensembl:ENST00000263228) - c.415C>T (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs779184762 | 141 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.33912023A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912023A>G Locations: - p.Asn141Ser (Ensembl:ENST00000263228) - c.422A>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1822504134 | 143 | D>N | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33912028G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912028G>A Locations: - p.Asp143Asn (Ensembl:ENST00000263228) - c.427G>A (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1468024826 | 146 | V>I | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.33912037G>A Codon: GTT/ATT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912037G>A Locations: - p.Val146Ile (Ensembl:ENST00000263228) - c.436G>A (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1392032219 | 147 | M>T | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33912041T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912041T>C Locations: - p.Met147Thr (Ensembl:ENST00000263228) - c.440T>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV54287491 rs1447755159 | 148 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.309) - SIFT: tolerated (0.1) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000009.12:g.33912045C>A, NC_000009.12:g.33912043T>C Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912045C>A, NC_000009.12:g.33912043T>C Locations: - c.444C>A (NCI-TCGA:ENST00000263228) - p.F148L (NCI-TCGA:ENST00000263228) - p.Phe148Leu (Ensembl:ENST00000263228) - c.442T>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1822504796 | 148 | F>Y | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000009.12:g.33912044T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912044T>A Locations: - p.Phe148Tyr (Ensembl:ENST00000263228) - c.443T>A (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1822505292 | 151 | W>L | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.33912053G>T Codon: TGG/TTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912053G>T Locations: - p.Trp151Leu (Ensembl:ENST00000263228) - c.452G>T (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs200839853 | 153 | D>V | 1000Genomes | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.33912059A>T Codon: GAC/GTC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912059A>T Locations: - p.Asp153Val (Ensembl:ENST00000263228) - c.458A>T (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs776445334 | 154 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.33912062G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912062G>A Locations: - p.Ser154Asn (Ensembl:ENST00000263228) - c.461G>A (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs745750000 | 157 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000009.12:g.33912071A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912071A>G Locations: - p.Lys157Arg (Ensembl:ENST00000263228) - c.470A>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs769740820 | 158 | D>E | ExAC | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.05) Somatic: No Accession: NC_000009.12:g.33912075C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912075C>G Locations: - p.Asp158Glu (Ensembl:ENST00000263228) - c.474C>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1822505951 | 158 | D>H | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33912073G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912073G>C Locations: - p.Asp158His (Ensembl:ENST00000263228) - c.472G>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV99601907 | 163 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.87) Somatic: Yes Accession: NC_000009.12:g.33912090A>C Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912090A>C Locations: - c.489A>C (NCI-TCGA:ENST00000263228) - p.E163D (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: | |||||||
TCGA novel | 163 | E>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.216) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000009.12:g.33912089A>G Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33912089A>G Locations: - c.488A>G (NCI-TCGA:ENST00000263228) - p.E163G (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs944112225 | 170 | S>L | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (1) Somatic: No Accession: NC_000009.12:g.33917029C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917029C>T Locations: - p.Ser170Leu (Ensembl:ENST00000263228) - c.509C>T (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1315118319 | 170 | S>P | gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.23) Somatic: No Accession: NC_000009.12:g.33917028T>C Codon: TCA/CCA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917028T>C Locations: - p.Ser170Pro (Ensembl:ENST00000263228) - c.508T>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs749159569 | 172 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.3) Somatic: No Accession: NC_000009.12:g.33917035C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917035C>G Locations: - p.Thr172Ser (Ensembl:ENST00000263228) - c.515C>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs773893146 | 175 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33917043G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917043G>A Locations: - p.Glu175Lys (Ensembl:ENST00000263228) - c.523G>A (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs771516938 | 177 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.33917051A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917051A>T Locations: - p.Glu177Asp (Ensembl:ENST00000263228) - c.531A>T (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV54290594 | 178 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.147) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000009.12:g.33917054G>C Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917054G>C Locations: - c.534G>C (NCI-TCGA:ENST00000263228) - p.K178N (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1822663527 | 179 | D>N | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.33917055G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917055G>A Locations: - p.Asp179Asn (Ensembl:ENST00000263228) - c.535G>A (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs772731336 | 180 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33917059G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917059G>T Locations: - p.Gly180Val (Ensembl:ENST00000263228) - c.539G>T (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
TCGA novel | 183 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.907) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.33917068T>C Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917068T>C Locations: - c.548T>C (NCI-TCGA:ENST00000263228) - p.V183A (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs760157116 | 185 | T>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.33917074C>A Codon: ACA/AAA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917074C>A Locations: - p.Thr185Lys (Ensembl:ENST00000263228) - c.554C>A (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1177435458 | 187 | L>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.13) Somatic: No Accession: NC_000009.12:g.33917079C>G Codon: CTG/GTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917079C>G Locations: - p.Leu187Val (Ensembl:ENST00000263228) - c.559C>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1181178013 | 188 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.428) - SIFT: tolerated (0.07) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000009.12:g.33917083C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917083C>T Locations: - p.A188V (NCI-TCGA:ENST00000263228) - p.Ala188Val (Ensembl:ENST00000263228) - c.563C>T (Ensembl:ENST00000263228) Source type: large scale study | |||||||
TCGA novel | 191 | C>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000009.12:g.33917092G>T Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917092G>T Locations: - c.572G>T (NCI-TCGA:ENST00000263228) - p.C191F (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1822664899 | 192 | I>V | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.78) Somatic: No Accession: NC_000009.12:g.33917094A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917094A>G Locations: - p.Ile192Val (Ensembl:ENST00000263228) - c.574A>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV99602433 | 193 | K>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000009.12:g.33917097A>C Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917097A>C Locations: - c.577A>C (NCI-TCGA:ENST00000263228) - p.K193Q (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1202336903 | 195 | K>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.33917103A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917103A>G Locations: - p.Lys195Glu (Ensembl:ENST00000263228) - c.583A>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1822665282 | 195 | K>N | TOPMed | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.33917105A>C Codon: AAA/AAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917105A>C Locations: - p.Lys195Asn (Ensembl:ENST00000263228) - c.585A>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs763320246 | 199 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.51) Somatic: No Accession: NC_000009.12:g.33917116A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917116A>G Locations: - p.Asn199Ser (Ensembl:ENST00000263228) - c.596A>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs372565481 | 201 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.22) - SIFT: tolerated - low confidence (0.2) Somatic: No Accession: NC_000009.12:g.33917123C>G Codon: AAC/AAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917123C>G Locations: - p.N201K (NCI-TCGA:ENST00000263228) - p.Asn201Lys (Ensembl:ENST00000263228) - c.603C>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
TCGA novel | 202 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.467) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000009.12:g.33917125G>T Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917125G>T Locations: - c.605G>T (NCI-TCGA:ENST00000263228) - p.S202I (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99602538 | 203 | S>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000009.12:g.33917128C>G Consequence type: stop gained Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917128C>G Locations: - c.608C>G (NCI-TCGA:ENST00000263228) - p.S203* (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs145589627 | 204 | D>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.12) Somatic: No Accession: NC_000009.12:g.33917130G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917130G>A Locations: - p.Asp204Asn (Ensembl:ENST00000263228) - c.610G>A (Ensembl:ENST00000263228) Source type: large scale study | |||||||
COSV99602007 | 206 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.18) Somatic: Yes Accession: NC_000009.12:g.33917136C>A Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917136C>A Locations: - c.616C>A (NCI-TCGA:ENST00000263228) - p.L206I (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1822666271 | 207 | Y>N | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.33917139T>A Codon: TAC/AAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917139T>A Locations: - p.Tyr207Asn (Ensembl:ENST00000263228) - c.619T>A (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV54289167 rs1320272305 | 208 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: tolerated (0.12) - SIFT: deleterious - low confidence (0.04) Somatic: No Accession: NC_000009.12:g.33917142G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917142G>A Locations: - p.D208N (NCI-TCGA:ENST00000263228) - p.Asp208Asn (Ensembl:ENST00000263228) - c.622G>A (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1200306189 | 210 | L>F | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.65) Somatic: No Accession: NC_000009.12:g.33917150G>C Codon: TTG/TTC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917150G>C Locations: - p.Leu210Phe (Ensembl:ENST00000263228) - c.630G>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs2130827135 | 213 | D>N | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000009.12:g.33917157G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917157G>A Locations: - p.Asp213Asn (Ensembl:ENST00000263228) - c.637G>A (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs143620598 | 214 | D>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.33917160G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917160G>A Locations: - p.Asp214Asn (Ensembl:ENST00000263228) - c.640G>A (Ensembl:ENST00000263228) Source type: large scale study | |||||||
rs1564008880 | 217 | D>E | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.14) Somatic: No Accession: NC_000009.12:g.33917171T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917171T>A Locations: - p.Asp217Glu (Ensembl:ENST00000263228) - c.651T>A (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV54289631 | 218 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.22) Somatic: Yes Accession: NC_000009.12:g.33917172G>A Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917172G>A Locations: - c.652G>A (NCI-TCGA:ENST00000263228) - p.E218K (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs778731566 | 219 | D>E | ExAC TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.29) Somatic: No Accession: NC_000009.12:g.33917177T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917177T>G Locations: - p.Asp219Glu (Ensembl:ENST00000263228) - c.657T>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV99601863 | 220 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.22) Somatic: Yes Accession: NC_000009.12:g.33917180G>T Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917180G>T Locations: - c.660G>T (NCI-TCGA:ENST00000263228) - p.E220D (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1026908813 | 225 | A>V | TOPMed | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.06) Somatic: No Accession: NC_000009.12:g.33917194C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917194C>T Locations: - p.Ala225Val (Ensembl:ENST00000263228) - c.674C>T (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs771807900 | 226 | D>N | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000009.12:g.33917196G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917196G>A Locations: - p.Asp226Asn (Ensembl:ENST00000263228) - c.676G>A (Ensembl:ENST00000263228) Source type: large scale study | |||||||
rs1564008900 | 228 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000009.12:g.33917202T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917202T>C Locations: - p.Tyr228His (Ensembl:ENST00000263228) - c.682T>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1822669455 | 231 | D>E | Ensembl | ||||
Consequence: missense Predictions: - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000009.12:g.33917213T>G Codon: GAT/GAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917213T>G Locations: - p.Asp231Glu (Ensembl:ENST00000263228) - c.693T>G (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs867080039 | 234 | G>E | Ensembl | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000009.12:g.33917221G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917221G>A Locations: - p.Gly234Glu (Ensembl:ENST00000263228) - c.701G>A (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
rs1455175817 | 234 | G>R | gnomAD | ||||
Consequence: missense Predictions: - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000009.12:g.33917220G>C Codon: GGG/CGG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917220G>C Locations: - p.Gly234Arg (Ensembl:ENST00000263228) - c.700G>C (Ensembl:ENST00000263228) Source type: large scale study Cross-references: | |||||||
TCGA novel | 236 | E>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.932) - SIFT: tolerated - low confidence (0.17) Somatic: No Accession: NC_000009.12:g.33917227A>G Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917227A>G Locations: - c.707A>G (NCI-TCGA:ENST00000263228) - p.E236G (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV99602278 | 237 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.12) Somatic: Yes Accession: NC_000009.12:g.33917231G>T Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917231G>T Locations: - c.711G>T (NCI-TCGA:ENST00000263228) - p.E237D (NCI-TCGA:ENST00000263228) Source type: large scale study Cross-references: | |||||||
COSV54290328 rs960341662 | 238 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) - SIFT: deleterious - low confidence (0) Somatic: No Population frequencies: - MAF: 0.00001194 (gnomAD) Accession: NC_000009.12:g.33917233C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 9p13.3 Genomic location: NC_000009.12:g.33917233C>T Locations: - p.S238L (NCI-TCGA:ENST00000263228) - p.Ser238Leu (Ensembl:ENST00000263228) - c.713C>T (Ensembl:ENST00000263228) Source type: large scale study Cross-references: |