B2RUY7 · VWC2L_HUMAN
- Proteinvon Willebrand factor C domain-containing protein 2-like
- GeneVWC2L
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids222 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV100436231 rs1702319168 | 2 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.275) - SIFT: deleterious (0) - PolyPhen: benign (0.266) - SIFT: deleterious - low confidence (0.02) Somatic: Yes Accession: NC_000002.12:g.214414198C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414198C>A Locations: - p.A2D (NCI-TCGA:ENST00000312504) - p.Ala2Asp (Ensembl:ENST00000312504) - c.5C>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56968329 | 3 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.23) Somatic: Yes Accession: NC_000002.12:g.214414200C>T Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414200C>T Locations: - c.7C>T (NCI-TCGA:ENST00000312504) - p.L3F (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1574551528 | 4 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000002.12:g.214414204A>G Codon: CAT/CGT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414204A>G Locations: - p.His4Arg (Ensembl:ENST00000312504) - c.11A>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100435539 | 5 | I>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.214414207T>G Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414207T>G Locations: - c.14T>G (NCI-TCGA:ENST00000312504) - p.I5S (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1169505757 | 6 | H>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.214414209C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414209C>A Locations: - p.His6Asn (Ensembl:ENST00000312504) - c.16C>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100436556 rs115907662 | 6 | H>Q | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.11) Somatic: Yes Accession: NC_000002.12:g.214414211T>A Codon: CAT/CAA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414211T>A Locations: - p.His6Gln (Ensembl:ENST00000312504) - c.18T>A (Ensembl:ENST00000312504) Source type: large scale study | |||||||
COSV56976093 | 6 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: tolerated - low confidence (0.19) Somatic: Yes Accession: NC_000002.12:g.214414209C>T Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414209C>T Locations: - c.16C>T (NCI-TCGA:ENST00000312504) - p.H6Y (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs556831826 | 7 | E>D | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000002.12:g.214414214A>C, NC_000002.12:g.214414214A>T Codon: GAA/GAC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414214A>C, NC_000002.12:g.214414214A>T Locations: - p.Glu7Asp (Ensembl:ENST00000312504) - c.21A>C (Ensembl:ENST00000312504) - c.21A>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs375492675 | 8 | A>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.214414215G>T Codon: GCT/TCT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414215G>T Locations: - p.Ala8Ser (Ensembl:ENST00000312504) - c.22G>T (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs375492675 | 8 | A>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000002.12:g.214414215G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414215G>A Locations: - p.Ala8Thr (Ensembl:ENST00000312504) - c.22G>A (Ensembl:ENST00000312504) Source type: large scale study | |||||||
COSV100436228 | 8 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated - low confidence (0.7) Somatic: Yes Accession: NC_000002.12:g.214414216C>T Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414216C>T Locations: - c.23C>T (NCI-TCGA:ENST00000312504) - p.A8V (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs763718833 | 9 | C>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000002.12:g.214414219G>C Codon: TGC/TCC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414219G>C Locations: - p.Cys9Ser (Ensembl:ENST00000312504) - c.26G>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs751190219 | 9 | C>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000002.12:g.214414220C>G Codon: TGC/TGG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414220C>G Locations: - p.Cys9Trp (Ensembl:ENST00000312504) - c.27C>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1574551571 | 10 | I>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.114) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.214414222T>A Codon: ATA/AAA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414222T>A Locations: - p.Ile10Lys (Ensembl:ENST00000312504) - c.29T>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1319333239 | 10 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000002.12:g.214414221A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414221A>G Locations: - p.Ile10Val (Ensembl:ENST00000312504) - c.28A>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56978754 | 12 | L>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.8) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000002.12:g.214414228T>G Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414228T>G Locations: - c.35T>G (NCI-TCGA:ENST00000312504) - p.L12R (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
TCGA novel | 14 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.26) Somatic: No Accession: NC_000002.12:g.214414234T>C Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414234T>C Locations: - c.41T>C (NCI-TCGA:ENST00000312504) - p.V14A (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs757611546 | 14 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000002.12:g.214414233G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414233G>A Locations: - p.Val14Ile (Ensembl:ENST00000312504) - c.40G>A (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs757611546 | 14 | V>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000002.12:g.214414233G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414233G>C Locations: - p.Val14Leu (Ensembl:ENST00000312504) - c.40G>C (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs1226969837 | 15 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.078) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.214414237T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414237T>C Locations: - p.Ile15Thr (Ensembl:ENST00000312504) - c.44T>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56966030 rs750971146 | 16 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.62) - PolyPhen: benign (0.042) - SIFT: tolerated (0.38) Somatic: Yes Population frequencies: - MAF: 0.000004017 (gnomAD) Accession: NC_000002.12:g.214414239C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414239C>T Locations: - p.P16S (NCI-TCGA:ENST00000312504) - p.Pro16Ser (Ensembl:ENST00000312504) - c.46C>T (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs756632884 | 17 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000002.12:g.214414243G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414243G>T Locations: - p.Gly17Val (Ensembl:ENST00000312504) - c.50G>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs780695908 | 18 | L>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.199) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000002.12:g.214414245T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414245T>A Locations: - p.Leu18Met (Ensembl:ENST00000312504) - c.52T>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs749398407 | 19 | V>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.48) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.214414248G>T Codon: GTC/TTC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414248G>T Locations: - p.Val19Phe (Ensembl:ENST00000312504) - c.55G>T (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs749398407 | 19 | V>I | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.214414248G>A Codon: GTC/ATC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414248G>A Locations: - p.Val19Ile (Ensembl:ENST00000312504) - c.55G>A (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs1466360415 | 20 | T>I | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000002.12:g.214414252C>T Codon: ACC/ATC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414252C>T Locations: - p.Thr20Ile (Ensembl:ENST00000312504) - c.59C>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702320834 | 20 | T>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000002.12:g.214414251A>C Codon: ACC/CCC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414251A>C Locations: - p.Thr20Pro (Ensembl:ENST00000312504) - c.58A>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1574551612 | 21 | S>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.213) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000002.12:g.214414255C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414255C>T Locations: - p.Ser21Phe (Ensembl:ENST00000312504) - c.62C>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702321176 | 22 | A>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.745) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.214414257G>C Codon: GCT/CCT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414257G>C Locations: - p.Ala22Pro (Ensembl:ENST00000312504) - c.64G>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1574551625 | 23 | A>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.214414261C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414261C>A Locations: - p.Ala23Asp (Ensembl:ENST00000312504) - c.68C>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1574551625 | 23 | A>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000002.12:g.214414261C>T Codon: GCT/GTT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414261C>T Locations: - p.Ala23Val (Ensembl:ENST00000312504) - c.68C>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs755057632 | 24 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.214414265C>G Codon: ATC/ATG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414265C>G Locations: - p.Ile24Met (Ensembl:ENST00000312504) - c.72C>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702321267 | 24 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000002.12:g.214414264T>C Codon: ATC/ACC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414264T>C Locations: - p.Ile24Thr (Ensembl:ENST00000312504) - c.71T>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1326255283 | 25 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.36) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.214414266A>T Codon: AGT/TGT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414266A>T Locations: - p.Ser25Cys (Ensembl:ENST00000312504) - c.73A>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56969001 | 25 | S>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.34) Somatic: Yes Accession: NC_000002.12:g.214414266A>G Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414266A>G Locations: - c.73A>G (NCI-TCGA:ENST00000312504) - p.S25G (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56968289 | 27 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.473) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000002.12:g.214414274A>T Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414274A>T Locations: - c.81A>T (NCI-TCGA:ENST00000312504) - p.E27D (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100435460 | 27 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.316) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000002.12:g.214414272G>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414272G>A Locations: - c.79G>A (NCI-TCGA:ENST00000312504) - p.E27K (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs779057845 | 29 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.855) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.214414279A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414279A>G Locations: - p.Tyr29Cys (Ensembl:ENST00000312504) - c.86A>G (Ensembl:ENST00000312504) Source type: large scale study | |||||||
COSV99045303 rs779057845 | 29 | Y>S | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.173) - SIFT: tolerated (0.17) Somatic: Yes Accession: NC_000002.12:g.214414279A>C Codon: TAT/TCT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414279A>C Locations: - p.Tyr29Ser (Ensembl:ENST00000312504) - c.86A>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs912664587 | 30 | P>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000002.12:g.214414281C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414281C>G Locations: - p.Pro30Ala (Ensembl:ENST00000312504) - c.88C>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100436211 | 31 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.233) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000002.12:g.214414285C>T Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414285C>T Locations: - c.92C>T (NCI-TCGA:ENST00000312504) - p.A31V (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs748356169 | 32 | D>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.214414287G>C Codon: GAT/CAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414287G>C Locations: - p.Asp32His (Ensembl:ENST00000312504) - c.94G>C (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs748356169 | 32 | D>N | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.664) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000002.12:g.214414287G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414287G>A Locations: - p.Asp32Asn (Ensembl:ENST00000312504) - c.94G>A (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs1702321630 | 33 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000002.12:g.214414292A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414292A>C Locations: - p.Glu33Asp (Ensembl:ENST00000312504) - c.99A>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100436162 | 34 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000002.12:g.214414294G>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414294G>A Locations: - c.101G>A (NCI-TCGA:ENST00000312504) - p.G34D (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1333815003 | 34 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.106) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.214414293G>C Codon: GGT/CGT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414293G>C Locations: - p.Gly34Arg (Ensembl:ENST00000312504) - c.100G>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1405717489 | 34 | G>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.214414294G>T Codon: GGT/GTT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414294G>T Locations: - p.Gly34Val (Ensembl:ENST00000312504) - c.101G>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1386356051 | 35 | D>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.202) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.214414296G>C Codon: GAC/CAC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414296G>C Locations: - p.Asp35His (Ensembl:ENST00000312504) - c.103G>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1320562248 | 36 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.214414301G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414301G>C Locations: - p.Gln36His (Ensembl:ENST00000312504) - c.108G>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702321898 | 36 | Q>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000002.12:g.214414300A>T Codon: CAG/CTG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414300A>T Locations: - p.Gln36Leu (Ensembl:ENST00000312504) - c.107A>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1463694306 | 37 | I>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.072) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000002.12:g.214414302A>T Codon: ATC/TTC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414302A>T Locations: - p.Ile37Phe (Ensembl:ENST00000312504) - c.109A>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702322068 | 38 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000002.12:g.214414305T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414305T>G Locations: - p.Ser38Ala (Ensembl:ENST00000312504) - c.112T>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702322109 | 39 | S>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.214414308A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414308A>G Locations: - p.Ser39Gly (Ensembl:ENST00000312504) - c.115A>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702322145 | 39 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000002.12:g.214414309G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414309G>A Locations: - p.Ser39Asn (Ensembl:ENST00000312504) - c.116G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702322145 | 39 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000002.12:g.214414309G>C Codon: AGT/ACT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414309G>C Locations: - p.Ser39Thr (Ensembl:ENST00000312504) - c.116G>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702322183 | 40 | N>S | Variant of uncertain significance (Ensembl) | TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000002.12:g.214414312A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414312A>G Locations: - p.Asn40Ser (Ensembl:ENST00000312504) - c.119A>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs769778957 | 41 | D>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.021) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.214414314G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414314G>A Locations: - p.Asp41Asn (Ensembl:ENST00000312504) - c.121G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs943862579 | 42 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.214414318A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414318A>G Locations: - p.Asn42Ser (Ensembl:ENST00000312504) - c.125A>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1287385368 | 43 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.554) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414321T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414321T>C Locations: - p.Leu43Pro (Ensembl:ENST00000312504) - c.128T>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1287385368 | 43 | L>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.554) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414321T>A Codon: CTG/CAG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414321T>A Locations: - p.Leu43Gln (Ensembl:ENST00000312504) - c.128T>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs989033469 | 46 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.731) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000002.12:g.214414329G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414329G>A Locations: - p.Asp46Asn (Ensembl:ENST00000312504) - c.136G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56966957 COSV56966957,COSV56980994 COSV56980994 | 49 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000002.12:g.214414338C>T Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414338C>T Locations: - c.145C>T (NCI-TCGA:ENST00000312504) - p.R49* (NCI-TCGA:ENST00000312504) Source type: large scale study | |||||||
rs775492537 | 49 | R>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414339G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414339G>A Locations: - p.Arg49Gln (Ensembl:ENST00000312504) - c.146G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56978420 | 52 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000002.12:g.214414348G>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414348G>A Locations: - c.155G>A (NCI-TCGA:ENST00000312504) - p.G52E (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs369699352 | 52 | G>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.214414348G>T Codon: GGG/GTG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414348G>T Locations: - p.Gly52Val (Ensembl:ENST00000312504) - c.155G>T (Ensembl:ENST00000312504) Source type: large scale study | |||||||
COSV56980426 rs913094290 | 52 | G>W | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.543) - SIFT: tolerated (0.45) Somatic: Yes Accession: NC_000002.12:g.214414347G>T Codon: GGG/TGG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414347G>T Locations: - p.Gly52Trp (Ensembl:ENST00000312504) - c.154G>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1331761015 | 53 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414351G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414351G>A Locations: - p.Cys53Tyr (Ensembl:ENST00000312504) - c.158G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56968945 | 54 | V>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.214414354T>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414354T>A Locations: - c.161T>A (NCI-TCGA:ENST00000312504) - p.V54D (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56966425 rs371952173 | 55 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: tolerated (0.07) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: Yes Population frequencies: - MAF: 0.00001607 (gnomAD) Accession: NC_000002.12:g.214414356G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414356G>A Locations: - p.D55N (NCI-TCGA:ENST00000312504) - p.Asp55Asn (Ensembl:ENST00000312504) - c.163G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1196561751 | 56 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.365) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000002.12:g.214414361C>G Codon: GAC/GAG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414361C>G Locations: - p.Asp56Glu (Ensembl:ENST00000312504) - c.168C>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1456587806 | 57 | S>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000002.12:g.214414363G>A Codon: AGC/AAC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414363G>A Locations: - p.Ser57Asn (Ensembl:ENST00000312504) - c.170G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56973112 rs768008280 | 58 | G>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.00001607 (gnomAD) Accession: NC_000002.12:g.214414365G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414365G>A Locations: - p.G58S (NCI-TCGA:ENST00000312504) - p.Gly58Ser (Ensembl:ENST00000312504) - c.172G>A (Ensembl:ENST00000312504) Source type: large scale study | |||||||
TCGA novel | 58 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414366G>T Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414366G>T Locations: - c.173G>T (NCI-TCGA:ENST00000312504) - p.G58V (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2126168349 | 59 | F>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414368T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414368T>C Locations: - p.Phe59Leu (Ensembl:ENST00000312504) - c.175T>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702323103 | 61 | Y>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.214414376C>G Codon: TAC/TAG Consequence type: stop gained Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414376C>G Locations: - p.Tyr61Ter (Ensembl:ENST00000312504) - c.183C>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs750877732 | 61 | Y>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.458) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000002.12:g.214414375A>T Codon: TAC/TTC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414375A>T Locations: - p.Tyr61Phe (Ensembl:ENST00000312504) - c.182A>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs564756428 | 61 | Y>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.214414374T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414374T>C Locations: - p.Tyr61His (Ensembl:ENST00000312504) - c.181T>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
TCGA novel | 62 | K>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.214414377A>T Consequence type: stop gained Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414377A>T Locations: - c.184A>T (NCI-TCGA:ENST00000312504) - p.K62* (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV56981377 | 64 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.959) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.214414384G>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414384G>A Locations: - c.191G>A (NCI-TCGA:ENST00000312504) - p.G64E (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56964860 rs2126168359 | 64 | G>R | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.214414383G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414383G>A Locations: - p.Gly64Arg (Ensembl:ENST00000312504) - c.190G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1409668945 | 65 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.945) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.214414388A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414388A>C Locations: - p.Glu65Asp (Ensembl:ENST00000312504) - c.195A>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1473508513 | 66 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: stop gained Somatic: No Population frequencies: - MAF: 0.000004022 (gnomAD) Accession: NC_000002.12:g.214414389C>T Codon: CGA/TGA Consequence type: stop gained Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414389C>T Locations: - p.R66* (NCI-TCGA:ENST00000312504) - p.Arg66Ter (Ensembl:ENST00000312504) - c.196C>T (Ensembl:ENST00000312504) Source type: large scale study | |||||||
COSV56966876 rs370205207 | 66 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.35) - PolyPhen: benign (0.056) - SIFT: tolerated (0.29) Somatic: Yes Accession: NC_000002.12:g.214414390G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414390G>A Locations: - p.R66Q (NCI-TCGA:ENST00000312504) - p.Arg66Gln (Ensembl:ENST00000312504) - c.197G>A (Ensembl:ENST00000312504) Source type: large scale study | |||||||
COSV100435444 | 67 | F>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.214414392T>G Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414392T>G Locations: - c.199T>G (NCI-TCGA:ENST00000312504) - p.F67V (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1400927876 | 68 | F>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.214414396T>A Codon: TTC/TAC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414396T>A Locations: - p.Phe68Tyr (Ensembl:ENST00000312504) - c.203T>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs754350059 | 70 | G>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414402G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414402G>A Locations: - p.Gly70Glu (Ensembl:ENST00000312504) - c.209G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs937017932 | 71 | H>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.553) - SIFT: tolerated (0.1) - PolyPhen: possibly damaging (0.564) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.00001207 (gnomAD) Accession: NC_000002.12:g.214414404C>A Codon: CAT/AAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414404C>A Locations: - p.H71N (NCI-TCGA:ENST00000312504) - p.His71Asn (Ensembl:ENST00000312504) - c.211C>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56967131 | 71 | H>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.723) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000002.12:g.214414405A>G Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414405A>G Locations: - c.212A>G (NCI-TCGA:ENST00000312504) - p.H71R (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs937017932 | 71 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.801) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.214414404C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414404C>T Locations: - p.His71Tyr (Ensembl:ENST00000312504) - c.211C>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1306493025 | 72 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414407T>C Codon: TCC/CCC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414407T>C Locations: - p.Ser72Pro (Ensembl:ENST00000312504) - c.214T>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs755040110 | 73 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000002.12:g.214414411A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414411A>G Locations: - p.Asn73Ser (Ensembl:ENST00000312504) - c.218A>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1229501679 | 77 | V>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.64) Somatic: No Accession: NC_000002.12:g.214414422G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414422G>C Locations: - p.Val77Leu (Ensembl:ENST00000312504) - c.229G>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
TCGA novel | 78 | C>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414426G>T Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414426G>T Locations: - c.233G>T (NCI-TCGA:ENST00000312504) - p.C78F (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs369589307 | 79 | A>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.229) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414429C>G Codon: GCT/GGT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414429C>G Locations: - p.Ala79Gly (Ensembl:ENST00000312504) - c.236C>G (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs1311872498 | 79 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.214414428G>A Codon: GCT/ACT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414428G>A Locations: - p.Ala79Thr (Ensembl:ENST00000312504) - c.235G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100435793 rs1004663043 | 80 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.15) - PolyPhen: benign (0.005) - SIFT: tolerated (0.24) Somatic: Yes Population frequencies: - MAF: 0.000004028 (gnomAD) Accession: NC_000002.12:g.214414431C>G Codon: CTA/GTA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414431C>G Locations: - p.L80V (NCI-TCGA:ENST00000312504) - p.Leu80Val (Ensembl:ENST00000312504) - c.238C>G (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs1016167603 | 82 | G>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414438G>A Codon: GGA/GAA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414438G>A Locations: - p.Gly82Glu (Ensembl:ENST00000312504) - c.245G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1221014000 | 82 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414437G>A Codon: GGA/AGA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414437G>A Locations: - p.Gly82Arg (Ensembl:ENST00000312504) - c.244G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV104614766 rs758553594 | 86 | D>N | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.444) - SIFT: tolerated (0.53) Somatic: Yes Accession: NC_000002.12:g.214414449G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414449G>A Locations: - p.Asp86Asn (Ensembl:ENST00000312504) - c.256G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100436294 | 86 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.911) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000002.12:g.214414449G>T Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414449G>T Locations: - c.256G>T (NCI-TCGA:ENST00000312504) - p.D86Y (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs191363741 | 87 | Q>K | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000002.12:g.214414452C>A Codon: CAA/AAA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414452C>A Locations: - p.Gln87Lys (Ensembl:ENST00000312504) - c.259C>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702324876 | 91 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.214414464C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414464C>G Locations: - p.Pro91Ala (Ensembl:ENST00000312504) - c.271C>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs200979290 | 91 | P>H | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414465C>A Codon: CCT/CAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414465C>A Locations: - p.Pro91His (Ensembl:ENST00000312504) - c.272C>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs745726397 | 92 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.381) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414469A>T Codon: AAA/AAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414469A>T Locations: - p.Lys92Asn (Ensembl:ENST00000312504) - c.276A>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56980813 | 94 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000002.12:g.214414473C>T Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414473C>T Locations: - c.280C>T (NCI-TCGA:ENST00000312504) - p.H94Y (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56973895 | 95 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000002.12:g.214414476C>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414476C>A Locations: - c.283C>A (NCI-TCGA:ENST00000312504) - p.P95T (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56966895 rs1454213492 | 96 | K>E | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.748) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.214414479A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414479A>G Locations: - p.Lys96Glu (Ensembl:ENST00000312504) - c.286A>G (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs1702325266 | 100 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.238) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.214414491G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414491G>T Locations: - p.Val100Leu (Ensembl:ENST00000312504) - c.298G>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV104614794 rs1702325266 | 100 | V>M | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000002.12:g.214414491G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414491G>A Locations: - p.Val100Met (Ensembl:ENST00000312504) - c.298G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702325393 | 101 | E>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.661) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.214414495A>G Codon: GAA/GGA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414495A>G Locations: - p.Glu101Gly (Ensembl:ENST00000312504) - c.302A>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1382142231 | 101 | E>K | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000002.12:g.214414494G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414494G>A Locations: - p.Glu101Lys (Ensembl:ENST00000312504) - c.301G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702325393 | 101 | E>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.214414495A>T Codon: GAA/GTA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414495A>T Locations: - p.Glu101Val (Ensembl:ENST00000312504) - c.302A>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs368875894 | 102 | H>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.214414497C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414497C>A Locations: - p.His102Asn (Ensembl:ENST00000312504) - c.304C>A (Ensembl:ENST00000312504) Source type: large scale study | |||||||
COSV56971068 rs995718379 | 102 | H>Q | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.525) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000002.12:g.214414499C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414499C>A Locations: - p.His102Gln (Ensembl:ENST00000312504) - c.306C>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1237797943 | 103 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.66) Somatic: No Accession: NC_000002.12:g.214414501A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414501A>G Locations: - p.Asn103Ser (Ensembl:ENST00000312504) - c.308A>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1453560172 | 104 | G>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.819) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.214414504G>T Codon: GGA/GTA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414504G>T Locations: - p.Gly104Val (Ensembl:ENST00000312504) - c.311G>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
TCGA novel | 105 | C>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.214414508C>A Consequence type: stop gained Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414508C>A Locations: - c.315C>A (NCI-TCGA:ENST00000312504) - p.C105* (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 105 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414507G>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414507G>A Locations: - c.314G>A (NCI-TCGA:ENST00000312504) - p.C105Y (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 106 | C>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414510G>T Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414510G>T Locations: - c.317G>T (NCI-TCGA:ENST00000312504) - p.C106F (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV105167933 rs1702325777 | 107 | P>S | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.214414512C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414512C>T Locations: - p.Pro107Ser (Ensembl:ENST00000312504) - c.319C>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702325777 | 107 | P>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414512C>A Codon: CCT/ACT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414512C>A Locations: - p.Pro107Thr (Ensembl:ENST00000312504) - c.319C>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs768081233 | 108 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.564) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000002.12:g.214414517G>C Codon: GAG/GAC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414517G>C Locations: - p.Glu108Asp (Ensembl:ENST00000312504) - c.324G>C (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs1027246970 | 108 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.731) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000002.12:g.214414516A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414516A>G Locations: - p.Glu108Gly (Ensembl:ENST00000312504) - c.323A>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs749200571 | 108 | E>K | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.4) - SIFT: tolerated (0.8) Somatic: No Accession: NC_000002.12:g.214414515G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414515G>A Locations: - p.Glu108Lys (Ensembl:ENST00000312504) - c.322G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1559283279 | 109 | C>F | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414519G>T Codon: TGC/TTC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414519G>T Locations: - p.Cys109Phe (Ensembl:ENST00000312504) - c.326G>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
TCGA novel | 109 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414519G>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414519G>A Locations: - c.326G>A (NCI-TCGA:ENST00000312504) - p.C109Y (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2126168448 | 111 | E>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.214414524G>T Codon: GAA/TAA Consequence type: stop gained Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414524G>T Locations: - p.Glu111Ter (Ensembl:ENST00000312504) - c.331G>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56970573 COSV56970573,COSV56977486 COSV56977486 | 113 | K>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.893) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000002.12:g.214414530A>G Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414530A>G Locations: - c.337A>G (NCI-TCGA:ENST00000312504) - p.K113E (NCI-TCGA:ENST00000312504) Source type: large scale study | |||||||
rs1213189124 | 114 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.863) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.214414533A>G Codon: AAC/GAC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414533A>G Locations: - p.Asn114Asp (Ensembl:ENST00000312504) - c.340A>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
TCGA novel | 114 | N>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.757) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.214414534A>C Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414534A>C Locations: - c.341A>C (NCI-TCGA:ENST00000312504) - p.N114T (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100435771 COSV100435771,COSV56969834 COSV56969834 | 115 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.372) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000002.12:g.214414538C>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414538C>A Locations: - c.345C>A (NCI-TCGA:ENST00000312504) - p.F115L (NCI-TCGA:ENST00000312504) Source type: large scale study | |||||||
rs1323561351 | 117 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.214414544A>T Codon: GAA/GAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414544A>T Locations: - p.Glu117Asp (Ensembl:ENST00000312504) - c.351A>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs907884631 | 117 | E>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.897) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.214414542G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414542G>A Locations: - p.Glu117Lys (Ensembl:ENST00000312504) - c.349G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100435846 COSV100435846,COSV100436029 COSV100436029 | 117 | E>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.331) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000002.12:g.214414543A>T Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414543A>T Locations: - c.350A>T (NCI-TCGA:ENST00000312504) - p.E117V (NCI-TCGA:ENST00000312504) Source type: large scale study | |||||||
COSV100436498 COSV100436498,COSV56965208 COSV56965208 | 119 | H>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000002.12:g.214414548C>G Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414548C>G Locations: - c.355C>G (NCI-TCGA:ENST00000312504) - p.H119D (NCI-TCGA:ENST00000312504) Source type: large scale study | |||||||
COSV100436498 COSV100436498,COSV56965208 COSV56965208 rs1702326396 | 119 | H>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated (0.19) - PolyPhen: benign (0.089) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000002.12:g.214414548C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414548C>A Locations: - p.H119N (NCI-TCGA:ENST00000312504) - p.His119Asn (Ensembl:ENST00000312504) - c.355C>A (Ensembl:ENST00000312504) Source type: large scale study | |||||||
COSV100436498 COSV100436498,COSV56965208 COSV56965208 rs1702326396 | 119 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.253) - SIFT: deleterious (0.04) - PolyPhen: benign (0.245) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000002.12:g.214414548C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414548C>T Locations: - p.H119Y (NCI-TCGA:ENST00000312504) - p.His119Tyr (Ensembl:ENST00000312504) - c.355C>T (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs1702326577 | 120 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.899) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.214414552G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414552G>A Locations: - p.Gly120Glu (Ensembl:ENST00000312504) - c.359G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1438720272 | 120 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414551G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414551G>A Locations: - p.Gly120Arg (Ensembl:ENST00000312504) - c.358G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702326777 | 122 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.214414559T>G Codon: AAT/AAG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414559T>G Locations: - p.Asn122Lys (Ensembl:ENST00000312504) - c.366T>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1341749172 | 122 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000002.12:g.214414558A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414558A>G Locations: - p.Asn122Ser (Ensembl:ENST00000312504) - c.365A>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1226529020 | 126 | L>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214414570T>C Codon: TTG/TCG Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414570T>C Locations: - p.Leu126Ser (Ensembl:ENST00000312504) - c.377T>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100435577 | 127 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.716) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000002.12:g.214414574G>T Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414574G>T Locations: - c.381G>T (NCI-TCGA:ENST00000312504) - p.E127D (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56976097 rs267599197 | 128 | E>K | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.214414575G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414575G>A Locations: - p.Glu128Lys (Ensembl:ENST00000312504) - c.382G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56967530 | 129 | F>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000002.12:g.214414579T>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214414579T>A Locations: - c.386T>A (NCI-TCGA:ENST00000312504) - p.F129Y (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56977779 | 131 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.93) - SIFT: tolerated (0.56) Somatic: Yes Accession: NC_000002.12:g.214436630C>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436630C>A Locations: - c.392C>A (NCI-TCGA:ENST00000312504) - p.P131H (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1211620420 | 131 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.69) Somatic: No Accession: NC_000002.12:g.214436630C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436630C>T Locations: - p.Pro131Leu (Ensembl:ENST00000312504) - c.392C>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702683192 | 133 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.214436636C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436636C>T Locations: - p.Pro133Leu (Ensembl:ENST00000312504) - c.398C>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702683192 | 133 | P>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.935) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.214436636C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436636C>A Locations: - p.Pro133Gln (Ensembl:ENST00000312504) - c.398C>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56964842 rs1464105210 | 135 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214436641G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436641G>C Locations: - p.E135Q (NCI-TCGA:ENST00000312504) - p.Glu135Gln (Ensembl:ENST00000312504) - c.403G>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1430222781 | 136 | W>* | 1000Genomes TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.214436646G>A Codon: TGG/TGA Consequence type: stop gained Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436646G>A Locations: - p.Trp136Ter (Ensembl:ENST00000312504) - c.408G>A (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs1430222781 | 136 | W>C | 1000Genomes TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.962) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.214436646G>T Codon: TGG/TGT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436646G>T Locations: - p.Trp136Cys (Ensembl:ENST00000312504) - c.408G>T (Ensembl:ENST00000312504) Source type: large scale study | |||||||
TCGA novel | 136 | W>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.214436644T>C Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436644T>C Locations: - c.406T>C (NCI-TCGA:ENST00000312504) - p.W136R (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1702683374 | 137 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214436648G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436648G>A Locations: - p.Cys137Tyr (Ensembl:ENST00000312504) - c.410G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100435195 COSV100436165 rs768752069 | 138 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214436650C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436650C>T Locations: - p.R138C (NCI-TCGA:ENST00000312504) - p.Arg138Cys (Ensembl:ENST00000312504) - c.412C>T (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs1356316869 | 138 | R>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.958) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214436651G>T Codon: CGC/CTC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436651G>T Locations: - p.Arg138Leu (Ensembl:ENST00000312504) - c.413G>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100435195 COSV100435195,COSV100436165 COSV100436165 | 138 | R>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.976) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214436650C>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436650C>A Locations: - c.412C>A (NCI-TCGA:ENST00000312504) - p.R138S (NCI-TCGA:ENST00000312504) Source type: large scale study | |||||||
COSV100436450 | 139 | C>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.214436654G>C Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436654G>C Locations: - c.416G>C (NCI-TCGA:ENST00000312504) - p.C139S (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100436273 | 140 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.628) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.214436656G>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436656G>A Locations: - c.418G>A (NCI-TCGA:ENST00000312504) - p.E140K (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs2126178719 | 141 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.606) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.214436660C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436660C>T Locations: - p.Pro141Leu (Ensembl:ENST00000312504) - c.422C>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs771208377 | 142 | S>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.173) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214436663G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436663G>C Locations: - p.Ser142Thr (Ensembl:ENST00000312504) - c.425G>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1000605837 | 143 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000002.12:g.214436665A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436665A>C Locations: - p.Asn143His (Ensembl:ENST00000312504) - c.427A>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1249523522 | 144 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.214436670A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436670A>C Locations: - p.Glu144Asp (Ensembl:ENST00000312504) - c.432A>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56970663 | 144 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: tolerated (0.16) Somatic: Yes Accession: NC_000002.12:g.214436668G>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436668G>A Locations: - c.430G>A (NCI-TCGA:ENST00000312504) - p.E144K (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100435566 | 146 | H>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.61) - SIFT: tolerated (0.27) Somatic: Yes Accession: NC_000002.12:g.214436674C>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436674C>A Locations: - c.436C>A (NCI-TCGA:ENST00000312504) - p.H146N (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56975015 | 146 | H>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.61) - SIFT: tolerated (0.27) Somatic: Yes Accession: NC_000002.12:g.214436676C>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436676C>A Locations: - c.438C>A (NCI-TCGA:ENST00000312504) - p.H146Q (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1449627920 | 146 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.091) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.214436675A>G Codon: CAC/CGC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436675A>G Locations: - p.His146Arg (Ensembl:ENST00000312504) - c.437A>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs776993758 | 149 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214436684T>C Codon: GTA/GCA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436684T>C Locations: - p.Val149Ala (Ensembl:ENST00000312504) - c.446T>C (Ensembl:ENST00000312504) Source type: large scale study | |||||||
TCGA novel | 149 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.793) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214436683G>C Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436683G>C Locations: - c.445G>C (NCI-TCGA:ENST00000312504) - p.V149L (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1367138357 | 150 | A>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.54) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000002.12:g.214436687C>A Codon: GCA/GAA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436687C>A Locations: - p.Ala150Glu (Ensembl:ENST00000312504) - c.449C>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs2126178726 | 150 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.214436686G>T Codon: GCA/TCA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436686G>T Locations: - p.Ala150Ser (Ensembl:ENST00000312504) - c.448G>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs759802417 | 151 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.851) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000002.12:g.214436691C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436691C>A Locations: - p.Asp151Glu (Ensembl:ENST00000312504) - c.453C>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1459739148 | 151 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.087) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000002.12:g.214436690A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436690A>G Locations: - p.Asp151Gly (Ensembl:ENST00000312504) - c.452A>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56965792 | 153 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.808) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000002.12:g.214436695G>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436695G>A Locations: - c.457G>A (NCI-TCGA:ENST00000312504) - p.A153T (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702683989 | 155 | P>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.751) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000002.12:g.214436701C>G Codon: CCT/GCT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436701C>G Locations: - p.Pro155Ala (Ensembl:ENST00000312504) - c.463C>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702684063 | 156 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.107) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.214436706G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436706G>T Locations: - p.Glu156Asp (Ensembl:ENST00000312504) - c.468G>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100436325 COSV100436325,COSV56975343 COSV56975343 | 160 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214436717C>T Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436717C>T Locations: - c.479C>T (NCI-TCGA:ENST00000312504) - p.P160L (NCI-TCGA:ENST00000312504) Source type: large scale study | |||||||
rs2126178737 | 160 | P>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214436717C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436717C>A Locations: - p.Pro160Gln (Ensembl:ENST00000312504) - c.479C>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100436325 COSV100436325,COSV56975343 COSV56975343 | 160 | P>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214436717C>G Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436717C>G Locations: - c.479C>G (NCI-TCGA:ENST00000312504) - p.P160R (NCI-TCGA:ENST00000312504) Source type: large scale study | |||||||
TCGA novel | 160 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214436716C>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436716C>A Locations: - c.478C>A (NCI-TCGA:ENST00000312504) - p.P160T (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs763067911 | 161 | V>A | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.304) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.214436720T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436720T>C Locations: - p.Val161Ala (Ensembl:ENST00000312504) - c.482T>C (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs1702684250 | 162 | Y>H | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214436722T>C Codon: TAT/CAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436722T>C Locations: - p.Tyr162His (Ensembl:ENST00000312504) - c.484T>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56968084 | 164 | P>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000002.12:g.214436728C>G Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436728C>G Locations: - c.490C>G (NCI-TCGA:ENST00000312504) - p.P164A (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs771364211 | 164 | P>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.214436729C>A Codon: CCA/CAA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436729C>A Locations: - p.Pro164Gln (Ensembl:ENST00000312504) - c.491C>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
TCGA novel | 164 | P>T | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000002.12:g.214436725_214436726insA Consequence type: frameshift Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436725_214436726insA Locations: - c.489dup (NCI-TCGA:ENST00000312504) - p.P164Tfs*26 (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1293896034 | 166 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.214436734C>T Codon: CAA/TAA Consequence type: stop gained Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436734C>T Locations: - p.Gln166Ter (Ensembl:ENST00000312504) - c.496C>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1185595824 | 166 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.862) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000002.12:g.214436735A>G Codon: CAA/CGA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436735A>G Locations: - p.Gln166Arg (Ensembl:ENST00000312504) - c.497A>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1702684447 | 167 | C>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214436737T>C Codon: TGT/CGT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436737T>C Locations: - p.Cys167Arg (Ensembl:ENST00000312504) - c.499T>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100435799 | 168 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.58) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000002.12:g.214436741G>A Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436741G>A Locations: - c.503G>A (NCI-TCGA:ENST00000312504) - p.C168Y (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100436246 COSV100436246,COSV56970670 COSV56970670 | 169 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214436744C>T Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436744C>T Locations: - c.506C>T (NCI-TCGA:ENST00000312504) - p.P169L (NCI-TCGA:ENST00000312504) Source type: large scale study | |||||||
rs1328322142 | 169 | P>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.214436743C>T Codon: CCT/TCT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436743C>T Locations: - p.Pro169Ser (Ensembl:ENST00000312504) - c.505C>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1206287328 | 170 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.311) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214436747T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436747T>C Locations: - p.Val170Ala (Ensembl:ENST00000312504) - c.509T>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs2126178743 | 170 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.214436746G>C Codon: GTC/CTC Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436746G>C Locations: - p.Val170Leu (Ensembl:ENST00000312504) - c.508G>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100434988 COSV100434988,COSV100435375 COSV100435375 | 171 | C>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.214436751C>A Consequence type: stop gained Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436751C>A Locations: - c.513C>A (NCI-TCGA:ENST00000312504) - p.C171* (NCI-TCGA:ENST00000312504) Source type: large scale study | |||||||
TCGA novel | 171 | C>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.889) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214436750G>T Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436750G>T Locations: - c.512G>T (NCI-TCGA:ENST00000312504) - p.C171F (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1269436729 | 172 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.591) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.214436753A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436753A>G Locations: - p.Lys172Arg (Ensembl:ENST00000312504) - c.515A>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs533055000 | 173 | N>H | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.81) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.214436755A>C Codon: AAT/CAT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436755A>C Locations: - p.Asn173His (Ensembl:ENST00000312504) - c.517A>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1199562054 | 173 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000002.12:g.214436756A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436756A>G Locations: - p.Asn173Ser (Ensembl:ENST00000312504) - c.518A>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs757433698 | 174 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214436758G>A Codon: GGT/AGT Consequence type: missense Cytogenetic band: 2q34 Genomic location: NC_000002.12:g.214436758G>A Locations: - p.Gly174Ser (Ensembl:ENST00000312504) - c.520G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
TCGA novel | 175 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000002.12:g.214575675C>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575675C>T Locations: - c.524C>T (NCI-TCGA:ENST00000312504) - p.P175L (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1690218917 | 178 | F>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.167) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000002.12:g.214575684T>A Codon: TTG/ATG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575684T>A Locations: - p.Phe178Tyr (Ensembl:ENST00000312504) - c.533T>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1251865938 | 179 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.214575686G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575686G>T Locations: - p.Ala179Ser (Ensembl:ENST00000312504) - c.535G>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56980639 rs777148823 | 179 | A>V | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.718) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000002.12:g.214575687C>T Codon: GCA/GTA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575687C>T Locations: - p.Ala179Val (Ensembl:ENST00000312504) - c.536C>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56975317 COSV56978390 rs767822551 rs767822551,COSV56975317,COSV56978390 | 181 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious (0.03) - PolyPhen: probably damaging (0.949) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.00001205 (gnomAD) Accession: NC_000002.12:g.214575693C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575693C>T Locations: - p.T181M (NCI-TCGA:ENST00000312504) - p.Thr181Met (Ensembl:ENST00000312504) - c.542C>T (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs754827622 | 182 | T>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.301) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000002.12:g.214575696C>A Codon: ACG/AAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575696C>A Locations: - p.Thr182Lys (Ensembl:ENST00000312504) - c.545C>A (Ensembl:ENST00000312504) Source type: large scale study | |||||||
COSV56970559 rs754827622 | 182 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: tolerated (0.09) - PolyPhen: possibly damaging (0.815) - SIFT: tolerated (0.05) Somatic: Yes Population frequencies: - MAF: 0.00002009 (gnomAD) Accession: NC_000002.12:g.214575696C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575696C>T Locations: - p.T182M (NCI-TCGA:ENST00000312504) - p.Thr182Met (Ensembl:ENST00000312504) - c.545C>T (Ensembl:ENST00000312504) Source type: large scale study | |||||||
COSV56964747 | 183 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000002.12:g.214575698A>G Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575698A>G Locations: - c.547A>G (NCI-TCGA:ENST00000312504) - p.I183V (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1407761751 | 186 | A>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214575708C>A Codon: GCT/GAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575708C>A Locations: - p.Ala186Asp (Ensembl:ENST00000312504) - c.557C>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs752689320 | 188 | I>T | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.454) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000002.12:g.214575714T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575714T>C Locations: - p.Ile188Thr (Ensembl:ENST00000312504) - c.563T>C (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs1690219538 | 189 | E>D | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000002.12:g.214575718A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575718A>C Locations: - p.Glu189Asp (Ensembl:ENST00000312504) - c.567A>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1212848829 | 189 | E>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.304) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000002.12:g.214575716G>C Codon: GAA/CAA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575716G>C Locations: - p.Glu189Gln (Ensembl:ENST00000312504) - c.565G>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56971526 | 190 | V>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000002.12:g.214575720T>G Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575720T>G Locations: - c.569T>G (NCI-TCGA:ENST00000312504) - p.V190G (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs751144782 | 193 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.214575730C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575730C>A Locations: - p.Asp193Glu (Ensembl:ENST00000312504) - c.579C>A (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs2105936541 | 193 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.988) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.214575728G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575728G>A Locations: - p.Asp193Asn (Ensembl:ENST00000312504) - c.577G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100436405 COSV100436405,COSV56967454 COSV56967454 | 193 | D>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214575729A>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575729A>T Locations: - c.578A>T (NCI-TCGA:ENST00000312504) - p.D193V (NCI-TCGA:ENST00000312504) Source type: large scale study | |||||||
COSV56967282 | 194 | E>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.234) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000002.12:g.214575732A>G Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575732A>G Locations: - c.581A>G (NCI-TCGA:ENST00000312504) - p.E194G (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100435046 rs765807170 | 194 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.246) - SIFT: tolerated (0.31) - PolyPhen: benign (0.242) - SIFT: deleterious (0.03) Somatic: No Population frequencies: - MAF: 0.00002008 (gnomAD) Accession: NC_000002.12:g.214575731G>A Codon: GAA/AAA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575731G>A Locations: - p.E194K (NCI-TCGA:ENST00000312504) - p.Glu194Lys (Ensembl:ENST00000312504) - c.580G>A (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs780944449 | 195 | C>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.803) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000002.12:g.214575734T>G Codon: TGT/GGT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575734T>G Locations: - p.Cys195Gly (Ensembl:ENST00000312504) - c.583T>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV100436394 | 197 | I>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.905) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000002.12:g.214575740A>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575740A>T Locations: - c.589A>T (NCI-TCGA:ENST00000312504) - p.I197F (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1690220051 | 199 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (1) Somatic: No Accession: NC_000002.12:g.214575746C>T Codon: CAT/TAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575746C>T Locations: - p.His199Tyr (Ensembl:ENST00000312504) - c.595C>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1690220145 | 200 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214575750G>A Codon: TGT/TAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575750G>A Locations: - p.Cys200Tyr (Ensembl:ENST00000312504) - c.599G>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56965966 COSV56980474 rs769218522 | 203 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious (0.02) - PolyPhen: benign (0.062) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.00003213 (gnomAD) Accession: NC_000002.12:g.214575758G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575758G>A Locations: - p.G203R (NCI-TCGA:ENST00000312504) - p.Gly203Arg (Ensembl:ENST00000312504) - c.607G>A (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs774809053 | 204 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.125) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000002.12:g.214575763C>G, NC_000002.12:g.214575763C>A Codon: GAC/GAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575763C>G, NC_000002.12:g.214575763C>A Locations: - p.Asp204Glu (Ensembl:ENST00000312504) - c.612C>G (Ensembl:ENST00000312504) - c.612C>A (Ensembl:ENST00000312504) Source type: large scale study | |||||||
COSV56978933 | 206 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000002.12:g.214575769G>A Consequence type: stop gained Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575769G>A Locations: - c.618G>A (NCI-TCGA:ENST00000312504) - p.W206* (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56978933 | 206 | W>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.948) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000002.12:g.214575769G>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575769G>T Locations: - c.618G>T (NCI-TCGA:ENST00000312504) - p.W206C (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
COSV56969595 | 206 | W>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.365) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000002.12:g.214575767T>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575767T>A Locations: - c.616T>A (NCI-TCGA:ENST00000312504) - p.W206R (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
TCGA novel | 207 | K>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.465) - SIFT: tolerated (0.4) Somatic: No Accession: NC_000002.12:g.214575770A>G Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575770A>G Locations: - c.619A>G (NCI-TCGA:ENST00000312504) - p.K207E (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV100435165 | 208 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated (0.6) Somatic: Yes Accession: NC_000002.12:g.214575774C>A Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575774C>A Locations: - c.623C>A (NCI-TCGA:ENST00000312504) - p.P208H (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs762003487 | 210 | Q>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000002.12:g.214575779C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575779C>A Locations: - p.Gln210Lys (Ensembl:ENST00000312504) - c.628C>A (Ensembl:ENST00000312504) Source type: large scale study | |||||||
COSV100435011 COSV100435011,COSV56967544 COSV56967544 | 210 | Q>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.526) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000002.12:g.214575780A>C Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575780A>C Locations: - c.629A>C (NCI-TCGA:ENST00000312504) - p.Q210P (NCI-TCGA:ENST00000312504) Source type: large scale study | |||||||
COSV56964997 COSV56981058 rs753295197 | 212 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.39) - PolyPhen: benign (0.003) - SIFT: tolerated (0.21) Somatic: No Population frequencies: - MAF: 0.0001245 (gnomAD) Accession: NC_000002.12:g.214575786C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575786C>T Locations: - p.S212L (NCI-TCGA:ENST00000312504) - p.Ser212Leu (Ensembl:ENST00000312504) - c.635C>T (Ensembl:ENST00000312504) Source type: large scale study | |||||||
COSV56980739 | 212 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: benign (0.271) - SIFT: tolerated (0.07) Somatic: Yes Accession: NC_000002.12:g.214575785T>C Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575785T>C Locations: - c.634T>C (NCI-TCGA:ENST00000312504) - p.S212P (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1690220854 | 213 | K>E | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.214575788A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575788A>G Locations: - p.Lys213Glu (Ensembl:ENST00000312504) - c.637A>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs553367363 | 214 | R>C | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.929) - SIFT: deleterious (0) Somatic: No Accession: NC_000002.12:g.214575791C>T Codon: CGT/TGT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575791C>T Locations: - p.Arg214Cys (Ensembl:ENST00000312504) - c.640C>T (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs752593242 | 214 | R>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000002.12:g.214575792G>A Codon: CGT/CAT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575792G>A Locations: - p.Arg214His (Ensembl:ENST00000312504) - c.641G>A (Ensembl:ENST00000312504) Source type: large scale study | |||||||
COSV100435363 COSV100435363,COSV56971101 COSV56971101 | 214 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000002.12:g.214575792G>T Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575792G>T Locations: - c.641G>T (NCI-TCGA:ENST00000312504) - p.R214L (NCI-TCGA:ENST00000312504) Source type: large scale study | |||||||
rs752593242 | 214 | R>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000002.12:g.214575792G>C Codon: CGT/CCT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575792G>C Locations: - p.Arg214Pro (Ensembl:ENST00000312504) - c.641G>C (Ensembl:ENST00000312504) Source type: large scale study | |||||||
TCGA novel | 215 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000002.12:g.214575794G>T Consequence type: stop gained Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575794G>T Locations: - c.643G>T (NCI-TCGA:ENST00000312504) - p.E215* (NCI-TCGA:ENST00000312504) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1355070107 | 216 | C>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000002.12:g.214575797T>A Codon: TGC/AGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575797T>A Locations: - p.Cys216Ser (Ensembl:ENST00000312504) - c.646T>A (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs367947169 | 218 | G>R | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.144) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000002.12:g.214575803G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575803G>C Locations: - p.Gly218Arg (Ensembl:ENST00000312504) - c.652G>C (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs367947169 | 218 | G>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000002.12:g.214575803G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575803G>A Locations: - p.Gly218Ser (Ensembl:ENST00000312504) - c.652G>A (Ensembl:ENST00000312504) Source type: large scale study | |||||||
rs1291688922 | 220 | Q>H | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.895) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000002.12:g.214575811G>C Codon: CAG/CAC Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575811G>C Locations: - p.Gln220His (Ensembl:ENST00000312504) - c.660G>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs377151180 | 221 | T>S | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000002.12:g.214575813C>G Codon: ACT/AGT Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575813C>G Locations: - p.Thr221Ser (Ensembl:ENST00000312504) - c.662C>G (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs905828299 | 222 | V>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.07) Somatic: No Accession: NC_000002.12:g.214575816T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575816T>C Locations: - p.Val222Ala (Ensembl:ENST00000312504) - c.665T>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: | |||||||
rs1441002504 | 223 | *>Q | gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000002.12:g.214575818T>C Codon: TAG/CAG Consequence type: stop lost Cytogenetic band: 2q35 Genomic location: NC_000002.12:g.214575818T>C Locations: - p.Ter223GlnextTer43 (Ensembl:ENST00000312504) - c.667T>C (Ensembl:ENST00000312504) Source type: large scale study Cross-references: |