Q9BTX3 · TM208_HUMAN
- ProteinTransmembrane protein 208
- GeneTMEM208
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids173 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV99263934 rs1224404519 | 2 | A>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP | |||
Consequence: - Somatic: No Population frequencies: - MAF: 0.000004037 (gnomAD) Accession: NC_000016.10:g.67227224G>T Consequence type: - Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227224G>T Locations: - c.6G>T (NCI-TCGA:ENST00000304800) - p.A2= (NCI-TCGA:ENST00000304800) Source type: large scale study | |||||||
rs757630527 | 3 | P>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.845) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67227836C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227836C>T Locations: - p.Pro3Ser (Ensembl:ENST00000304800) - c.7C>T (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs1179555587 | 4 | K>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.67227839A>G Codon: AAG/GAG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227839A>G Locations: - p.Lys4Glu (Ensembl:ENST00000304800) - c.10A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034082266 | 5 | G>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67227843G>A Codon: GGC/GAC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227843G>A Locations: - p.Gly5Asp (Ensembl:ENST00000304800) - c.14G>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2142250475 | 5 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67227842G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227842G>C Locations: - p.Gly5Arg (Ensembl:ENST00000304800) - c.13G>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034082509 | 6 | K>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.991) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67227845A>G Codon: AAA/GAA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227845A>G Locations: - p.Lys6Glu (Ensembl:ENST00000304800) - c.16A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034082614 | 6 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.67227846A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227846A>G Locations: - p.Lys6Arg (Ensembl:ENST00000304800) - c.17A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
TCGA novel | 8 | G>A | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000016.10:g.67227850del Consequence type: frameshift Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227850del Locations: - c.23del (NCI-TCGA:ENST00000304800) - p.G8Afs*16 (NCI-TCGA:ENST00000304800) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs986804478 | 8 | G>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.67227851G>C Codon: GGC/CGC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227851G>C Locations: - p.Gly8Arg (Ensembl:ENST00000304800) - c.22G>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034082986 | 9 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67227854A>G Codon: ACG/GCG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227854A>G Locations: - p.Thr9Ala (Ensembl:ENST00000304800) - c.25A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1160391826 | 9 | T>M | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67227855C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227855C>T Locations: - p.Thr9Met (Ensembl:ENST00000304800) - c.26C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034083277 | 10 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67227857A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227857A>G Locations: - p.Arg10Gly (Ensembl:ENST00000304800) - c.28A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs780063631 | 13 | K>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.67227866A>C Codon: AAG/CAG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227866A>C Locations: - p.Lys13Gln (Ensembl:ENST00000304800) - c.37A>C (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs1338909389 | 13 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.448) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67227867A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227867A>G Locations: - p.Lys13Arg (Ensembl:ENST00000304800) - c.38A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2142250549 | 14 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.67227869C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227869C>T Locations: - p.Gln14Ter (Ensembl:ENST00000304800) - c.40C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs768796724 | 15 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.67227872A>G Codon: ATA/GTA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227872A>G Locations: - p.Ile15Val (Ensembl:ENST00000304800) - c.43A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
TCGA novel | 15-21 | IF>missing | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: inframe deletion Somatic: No Accession: NC_000016.10:g.67227870_67227890del Consequence type: inframe deletion Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227870_67227890del Locations: - c.44_64del (NCI-TCGA:ENST00000304800) - p.I15_E21del (NCI-TCGA:ENST00000304800) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1301094958 | 16 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000016.10:g.67227875T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227875T>C Locations: - p.Phe16Leu (Ensembl:ENST00000304800) - c.46T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1375457131 | 16 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.61) Somatic: No Accession: NC_000016.10:g.67227877T>G Codon: TTT/TTG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227877T>G Locations: - p.Phe16Leu (Ensembl:ENST00000304800) - c.48T>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs774607183 | 17 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000016.10:g.67227880A>C Codon: GAA/GAC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227880A>C Locations: - p.Glu17Asp (Ensembl:ENST00000304800) - c.51A>C (Ensembl:ENST00000304800) Source type: large scale study | |||||||
COSV50762227 | 17 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.832) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000016.10:g.67227878G>C Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227878G>C Locations: - c.49G>C (NCI-TCGA:ENST00000304800) - p.E17Q (NCI-TCGA:ENST00000304800) Source type: large scale study Cross-references: | |||||||
COSV106053677 rs201846682 | 18 | E>Q | cosmic curated 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000016.10:g.67227881G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227881G>C Locations: - p.Glu18Gln (Ensembl:ENST00000304800) - c.52G>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034084416 | 19 | N>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67227884A>C Codon: AAC/CAC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227884A>C Locations: - p.Asn19His (Ensembl:ENST00000304800) - c.55A>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs376269523 | 20 | R>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000016.10:g.67227887A>G Codon: AGA/GGA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227887A>G Locations: - p.Arg20Gly (Ensembl:ENST00000304800) - c.58A>G (Ensembl:ENST00000304800) Source type: large scale study | |||||||
TCGA novel | 21 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.48) Somatic: No Accession: NC_000016.10:g.67227892G>T Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227892G>T Locations: - c.63G>T (NCI-TCGA:ENST00000304800) - p.E21D (NCI-TCGA:ENST00000304800) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs776712920 | 24 | K>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000016.10:g.67227900A>G Codon: AAG/AGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227900A>G Locations: - p.Lys24Arg (Ensembl:ENST00000304800) - c.71A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
TCGA novel | 25 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.952) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.67227904C>A Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227904C>A Locations: - c.75C>A (NCI-TCGA:ENST00000304800) - p.F25L (NCI-TCGA:ENST00000304800) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
VAR_089709 rs905460688 | 27 | L>P | found in a child with developmental delay, skeletal abnormalities, multiple hair whorls, cardiac and neurological issues; uncertain significance; partially rescues the lethality in the fruit fly model; no effect on localization to the endoplasmic reticulum membrane (UniProt) | Variant of uncertain significance (UniProt) | UniProt TOPMed gnomAD | ||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.699) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000016.10:g.67227909T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227909T>C Locations: - p.Leu27Pro (Ensembl:ENST00000304800) - c.80T>C (Ensembl:ENST00000304800) - p.Leu27Pro (UniProt:Q9BTX3) Source type: mixed | |||||||
rs759488911 | 28 | R>Q | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.822) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000016.10:g.67227912G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227912G>A Locations: - p.Arg28Gln (Ensembl:ENST00000304800) - c.83G>A (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs1163594040 | 29 | I>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.351) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.67227914A>C Codon: ATC/CTC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227914A>C Locations: - p.Ile29Leu (Ensembl:ENST00000304800) - c.85A>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs764861465 | 29 | I>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.896) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67227915T>G Codon: ATC/AGC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227915T>G Locations: - p.Ile29Ser (Ensembl:ENST00000304800) - c.86T>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs774903843 | 30 | I>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.151) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.67227917A>C Codon: ATA/CTA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227917A>C Locations: - p.Ile30Leu (Ensembl:ENST00000304800) - c.88A>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs762503575 | 30 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67227918T>C Codon: ATA/ACA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227918T>C Locations: - p.Ile30Thr (Ensembl:ENST00000304800) - c.89T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs763714346 | 31 | L>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.67227920C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227920C>A Locations: - p.Leu31Met (Ensembl:ENST00000304800) - c.91C>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1178973484 | 32 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.67227923G>A Codon: GGG/AGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227923G>A Locations: - p.Gly32Arg (Ensembl:ENST00000304800) - c.94G>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs767815279 | 33 | A>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67227927C>A Codon: GCC/GAC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227927C>A Locations: - p.Ala33Asp (Ensembl:ENST00000304800) - c.98C>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs757569025 | 33 | A>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.67227926G>C Codon: GCC/CCC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227926G>C Locations: - p.Ala33Pro (Ensembl:ENST00000304800) - c.97G>C (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs757569025 | 33 | A>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.67227926G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227926G>A Locations: - p.Ala33Thr (Ensembl:ENST00000304800) - c.97G>A (Ensembl:ENST00000304800) Source type: large scale study | |||||||
COSV99264470 rs767815279 rs767815279,COSV99264470 | 33 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: tolerated (0.12) - PolyPhen: probably damaging (0.985) - SIFT: tolerated (0.15) Somatic: Yes Accession: NC_000016.10:g.67227927C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227927C>T Locations: - p.A33V (NCI-TCGA:ENST00000304800) - p.Ala33Val (Ensembl:ENST00000304800) - c.98C>T (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs2034086386 | 34 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000016.10:g.67227930A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67227930A>G Locations: - p.Asn34Ser (Ensembl:ENST00000304800) - c.101A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs754362402 | 35 | A>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.612) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.67228355G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228355G>A Locations: - p.Ala35Thr (Ensembl:ENST00000304800) - c.103G>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs755015766 | 35 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000016.10:g.67228356C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228356C>T Locations: - p.Ala35Val (Ensembl:ENST00000304800) - c.104C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034106053 | 36 | I>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.67228359T>C Codon: ATT/ACT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228359T>C Locations: - p.Ile36Thr (Ensembl:ENST00000304800) - c.107T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
COSV99263943 | 37 | Y>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: tolerated (0.13) Somatic: Yes Accession: NC_000016.10:g.67228361T>C Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228361T>C Locations: - c.109T>C (NCI-TCGA:ENST00000304800) - p.Y37H (NCI-TCGA:ENST00000304800) Source type: large scale study Cross-references: | |||||||
COSV50768530 rs2034106349 | 41 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.093) - SIFT: tolerated (0.48) - PolyPhen: benign (0.091) - SIFT: tolerated (0.36) Somatic: Yes Accession: NC_000016.10:g.67228374C>T Codon: ACG/ATG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228374C>T Locations: - p.T41M (NCI-TCGA:ENST00000304800) - p.Thr41Met (Ensembl:ENST00000304800) - c.122C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034106721 | 42 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.163) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.67228378G>T Codon: TTG/TTT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228378G>T Locations: - p.Leu42Phe (Ensembl:ENST00000304800) - c.126G>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1244086400 | 43 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000016.10:g.67228380T>C Codon: GTC/GCC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228380T>C Locations: - p.Val43Ala (Ensembl:ENST00000304800) - c.128T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034107048 | 44 | F>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000016.10:g.67228382T>C Codon: TTC/CTC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228382T>C Locations: - p.Phe44Leu (Ensembl:ENST00000304800) - c.130T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1249473311 | 44 | F>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.293) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000016.10:g.67228383T>C Codon: TTC/TCC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228383T>C Locations: - p.Phe44Ser (Ensembl:ENST00000304800) - c.131T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034107048 | 44 | F>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.44) Somatic: No Accession: NC_000016.10:g.67228382T>G Codon: TTC/GTC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228382T>G Locations: - p.Phe44Val (Ensembl:ENST00000304800) - c.130T>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1045119628 | 45 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.447) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000016.10:g.67228385T>C Codon: TTT/CTT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228385T>C Locations: - p.Phe45Leu (Ensembl:ENST00000304800) - c.133T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1045119628 | 45 | F>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.552) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.67228385T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228385T>G Locations: - p.Phe45Val (Ensembl:ENST00000304800) - c.133T>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs758653249 | 46 | Y>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.431) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000016.10:g.67228389A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228389A>C Locations: - p.Tyr46Ser (Ensembl:ENST00000304800) - c.137A>C (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs1446446574 | 47 | S>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.141) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000016.10:g.67228392C>T Codon: TCA/TTA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228392C>T Locations: - p.Ser47Leu (Ensembl:ENST00000304800) - c.140C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034107633 | 48 | S>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000016.10:g.67228394T>A Codon: TCT/ACT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228394T>A Locations: - p.Ser48Thr (Ensembl:ENST00000304800) - c.142T>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
COSV99264596 | 51 | F>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.193) - SIFT: tolerated (0.72) Somatic: Yes Accession: NC_000016.10:g.67228403T>A Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228403T>A Locations: - c.151T>A (NCI-TCGA:ENST00000304800) - p.F51I (NCI-TCGA:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs745715874 | 51 | F>S | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.038) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000016.10:g.67228404T>C Codon: TTT/TCT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228404T>C Locations: - p.Phe51Ser (Ensembl:ENST00000304800) - c.152T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs898286137 | 54 | W>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.747) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000016.10:g.67228412T>C Codon: TGG/CGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228412T>C Locations: - p.Trp54Arg (Ensembl:ENST00000304800) - c.160T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs779862669 | 54 | W>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.641) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000016.10:g.67228413G>C Codon: TGG/TCG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228413G>C Locations: - p.Trp54Ser (Ensembl:ENST00000304800) - c.161G>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1250017468 | 59 | F>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.83) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.67228507T>G Codon: TTT/GTT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228507T>G Locations: - p.Phe59Val (Ensembl:ENST00000304800) - c.175T>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs749211328 | 60 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.773) - SIFT: deleterious (0.01) - PolyPhen: possibly damaging (0.78) - SIFT: deleterious (0) Somatic: No Population frequencies: - MAF: 0.000004019 (gnomAD) Accession: NC_000016.10:g.67228511G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228511G>A Locations: - p.S60N (NCI-TCGA:ENST00000304800) - p.Ser60Asn (Ensembl:ENST00000304800) - c.179G>A (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs779847665 | 60 | S>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.78) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228510A>C Codon: AGT/CGT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228510A>C Locations: - p.Ser60Arg (Ensembl:ENST00000304800) - c.178A>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1290674626 | 63 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.182) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.67228520T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228520T>C Locations: - p.Val63Ala (Ensembl:ENST00000304800) - c.188T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1962409587 | 63 | V>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.928) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228519G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228519G>A Locations: - p.Val63Met (Ensembl:ENST00000304800) - c.187G>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs768675244 | 64 | Y>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.67228523A>T Codon: TAT/TTT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228523A>T Locations: - p.Tyr64Phe (Ensembl:ENST00000304800) - c.191A>T (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs2142252386 | 65 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.627) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.67228526G>A Codon: GGG/GAG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228526G>A Locations: - p.Gly65Glu (Ensembl:ENST00000304800) - c.194G>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs778698125 | 66 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.67228529C>T Codon: GCC/GTC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228529C>T Locations: - p.Ala66Val (Ensembl:ENST00000304800) - c.197C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2142252418 | 67 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.881) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67228533C>G Codon: AGC/AGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228533C>G Locations: - p.Ser67Arg (Ensembl:ENST00000304800) - c.201C>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1567379157 | 67 | S>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.53) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.67228532G>C Codon: AGC/ACC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228532G>C Locations: - p.Ser67Thr (Ensembl:ENST00000304800) - c.200G>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs374229467 | 68 | Y>H | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67228534T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228534T>C Locations: - p.Tyr68His (Ensembl:ENST00000304800) - c.202T>C (Ensembl:ENST00000304800) Source type: large scale study | |||||||
COSV50761077 rs367799210 | 69 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP TOPMed dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.06) - PolyPhen: benign (0.014) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000016.10:g.67228537C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228537C>T Locations: - p.H69Y (NCI-TCGA:ENST00000304800) - p.His69Tyr (Ensembl:ENST00000304800) - c.205C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
TCGA novel | 70 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.956) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000016.10:g.67228541C>G Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228541C>G Locations: - c.209C>G (NCI-TCGA:ENST00000304800) - p.S70C (NCI-TCGA:ENST00000304800) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1368228999 | 70 | S>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.059) - SIFT: tolerated (0.87) Somatic: No Accession: NC_000016.10:g.67228541C>T Codon: TCT/TTT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228541C>T Locations: - p.Ser70Phe (Ensembl:ENST00000304800) - c.209C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs772858461 | 70 | S>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000016.10:g.67228540T>C Codon: TCT/CCT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228540T>C Locations: - p.Ser70Pro (Ensembl:ENST00000304800) - c.208T>C (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs746608844 | 71 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.406) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.67228543A>T Codon: ATG/TTG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228543A>T Locations: - p.Met71Leu (Ensembl:ENST00000304800) - c.211A>T (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs746608844 | 71 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.902) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.67228543A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228543A>G Locations: - p.Met71Val (Ensembl:ENST00000304800) - c.211A>G (Ensembl:ENST00000304800) Source type: large scale study | |||||||
COSV107248159 rs771224504 | 73 | S>L | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.443) - SIFT: tolerated (0.44) Somatic: Yes Accession: NC_000016.10:g.67228550C>T Codon: TCG/TTG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228550C>T Locations: - p.Ser73Leu (Ensembl:ENST00000304800) - c.218C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1156629137 | 74 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.744) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.67228554G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228554G>A Locations: - p.Met74Ile (Ensembl:ENST00000304800) - c.222G>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs759788231 | 74 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228553T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228553T>C Locations: - p.Met74Thr (Ensembl:ENST00000304800) - c.221T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1430974504 | 75 | A>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.67228556C>G Codon: GCA/GGA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228556C>G Locations: - p.Ala75Gly (Ensembl:ENST00000304800) - c.224C>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1297939667 | 75 | A>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228555G>C Codon: GCA/CCA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228555G>C Locations: - p.Ala75Pro (Ensembl:ENST00000304800) - c.223G>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
COSV50758608 rs200755290 | 76 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000016.10:g.67228558C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228558C>T Locations: - p.R76* (NCI-TCGA:ENST00000304800) - p.Arg76Ter (Ensembl:ENST00000304800) - c.226C>T (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs776135486 | 76 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.057) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000016.10:g.67228559G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228559G>A Locations: - p.Arg76Gln (Ensembl:ENST00000304800) - c.227G>A (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs2034115613 | 77 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.449) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.67228561G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228561G>A Locations: - p.Ala77Thr (Ensembl:ENST00000304800) - c.229G>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1241664945 | 78 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.86) Somatic: No Accession: NC_000016.10:g.67228564G>T Codon: GCG/TCG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228564G>T Locations: - p.Ala78Ser (Ensembl:ENST00000304800) - c.232G>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1241664945 | 78 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.67228564G>A Codon: GCG/ACG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228564G>A Locations: - p.Ala78Thr (Ensembl:ENST00000304800) - c.232G>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs763128059 | 78 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000016.10:g.67228565C>T Codon: GCG/GTG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228565C>T Locations: - p.Ala78Val (Ensembl:ENST00000304800) - c.233C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs757458185 | 81 | E>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.042) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000016.10:g.67228575G>T Codon: GAG/GAT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228575G>T Locations: - p.Glu81Asp (Ensembl:ENST00000304800) - c.243G>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
COSV50770775 | 81 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.739) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000016.10:g.67228573G>A Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228573G>A Locations: - c.241G>A (NCI-TCGA:ENST00000304800) - p.E81K (NCI-TCGA:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs767600139 | 82 | D>E | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.705) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000016.10:g.67228578T>A Codon: GAT/GAA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228578T>A Locations: - p.Asp82Glu (Ensembl:ENST00000304800) - c.246T>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
TCGA novel | 82 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000016.10:g.67228577A>G Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228577A>G Locations: - c.245A>G (NCI-TCGA:ENST00000304800) - p.D82G (NCI-TCGA:ENST00000304800) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
VAR_039958 rs17851038 | 82 | D>Y | UniProt Ensembl dbSNP | ||||
Consequence: missense Somatic: No Accession: NC_000016.10:g.67228576G>T Codon: GAT/TAT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228576G>T Locations: - p.Asp82Tyr (UniProt:Q9BTX3) Source type: mixed | |||||||
rs1234222117 | 84 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.67228582G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228582G>T Locations: - p.Ala84Ser (Ensembl:ENST00000304800) - c.250G>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034116798 | 85 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228586T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228586T>C Locations: - p.Leu85Pro (Ensembl:ENST00000304800) - c.254T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs754720437 | 86 | M>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67228589T>G Codon: ATG/AGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228589T>G Locations: - p.Met86Arg (Ensembl:ENST00000304800) - c.257T>G (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs754720437 | 86 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.67228589T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228589T>C Locations: - p.Met86Thr (Ensembl:ENST00000304800) - c.257T>C (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs2142252656 | 86 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000016.10:g.67228588A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228588A>G Locations: - p.Met86Val (Ensembl:ENST00000304800) - c.256A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1207320976 | 87 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228592A>G Codon: GAT/GGT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228592A>G Locations: - p.Asp87Gly (Ensembl:ENST00000304800) - c.260A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034117161 | 87 | D>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.807) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228591G>A Codon: GAT/AAT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228591G>A Locations: - p.Asp87Asn (Ensembl:ENST00000304800) - c.259G>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs778891911 | 90 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.6) Somatic: No Accession: NC_000016.10:g.67228600A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228600A>G Locations: - p.Met90Val (Ensembl:ENST00000304800) - c.268A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs938855044 | 91 | D>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.238) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228604A>G Codon: GAC/GGC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228604A>G Locations: - p.Asp91Gly (Ensembl:ENST00000304800) - c.272A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034117516 | 91 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228603G>A Codon: GAC/AAC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228603G>A Locations: - p.Asp91Asn (Ensembl:ENST00000304800) - c.271G>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034117715 | 93 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.293) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.67228610A>G Codon: AAC/AGC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228610A>G Locations: - p.Asn93Ser (Ensembl:ENST00000304800) - c.278A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs748015140 | 94 | M>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.562) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67228612A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228612A>G Locations: - p.Met94Val (Ensembl:ENST00000304800) - c.280A>G (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs2034117999 | 95 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.67228615G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228615G>C Locations: - p.Glu95Gln (Ensembl:ENST00000304800) - c.283G>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1197688383 | 96 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.67228618C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228618C>T Locations: - p.Gln96Ter (Ensembl:ENST00000304800) - c.286C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034118477 | 97 | G>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.793) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228621G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228621G>A Locations: - p.Gly97Ser (Ensembl:ENST00000304800) - c.289G>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs992983036 | 98 | M>T | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.67228625T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228625T>C Locations: - p.Met98Thr (Ensembl:ENST00000304800) - c.293T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs752655909 | 100 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67228797G>T, NC_000016.10:g.67228797G>C Codon: GAG/GAT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228797G>T, NC_000016.10:g.67228797G>C Locations: - p.Glu100Asp (Ensembl:ENST00000304800) - c.300G>T (Ensembl:ENST00000304800) - c.300G>C (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs1361721236 | 100 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.483) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228630G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228630G>C Locations: - p.Glu100Gln (Ensembl:ENST00000304800) - c.298G>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034127380 | 101 | H>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228800C>A Codon: CAC/CAA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228800C>A Locations: - p.His101Gln (Ensembl:ENST00000304800) - c.303C>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1263400798 | 101 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67228798C>T Codon: CAC/TAC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228798C>T Locations: - p.His101Tyr (Ensembl:ENST00000304800) - c.301C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
COSV105095454 rs2034127481 | 102 | L>F | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000016.10:g.67228801C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228801C>T Locations: - p.Leu102Phe (Ensembl:ENST00000304800) - c.304C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
VAR_053933 rs11553801 | 102 | L>P | UniProt Ensembl dbSNP | ||||
Consequence: missense Somatic: No Accession: NC_000016.10:g.67228802T>C Codon: CTT/CCT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228802T>C Locations: - p.Leu102Pro (UniProt:Q9BTX3) Source type: mixed | |||||||
rs1260793713 | 105 | V>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.465) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.67228811T>G Codon: GTG/GGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228811T>G Locations: - p.Val105Gly (Ensembl:ENST00000304800) - c.314T>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
COSV99264566 | 106 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.824) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000016.10:g.67228814T>C Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228814T>C Locations: - c.317T>C (NCI-TCGA:ENST00000304800) - p.I106T (NCI-TCGA:ENST00000304800) Source type: large scale study Cross-references: | |||||||
TCGA novel | 106 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.068) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000016.10:g.67228813A>G Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228813A>G Locations: - c.316A>G (NCI-TCGA:ENST00000304800) - p.I106V (NCI-TCGA:ENST00000304800) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1246930548 | 108 | L>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228820T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228820T>C Locations: - p.Leu108Pro (Ensembl:ENST00000304800) - c.323T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1646702469 | 109 | T>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.67228822A>G Codon: ACA/GCA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228822A>G Locations: - p.Thr109Ala (Ensembl:ENST00000304800) - c.325A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1318983736 | 109 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.977) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228823C>T Codon: ACA/ATA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228823C>T Locations: - p.Thr109Ile (Ensembl:ENST00000304800) - c.326C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
TCGA novel | 110 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: tolerated (0.63) Somatic: No Accession: NC_000016.10:g.67228825G>T Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228825G>T Locations: - c.328G>T (NCI-TCGA:ENST00000304800) - p.A110S (NCI-TCGA:ENST00000304800) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1183053916 | 111 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.07) - SIFT: tolerated (0.8) Somatic: No Accession: NC_000016.10:g.67228828A>G Codon: ATC/GTC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228828A>G Locations: - p.Ile111Val (Ensembl:ENST00000304800) - c.331A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1164585898 | 112 | V>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.67228832T>C Codon: GTG/GCG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228832T>C Locations: - p.Val112Ala (Ensembl:ENST00000304800) - c.335T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
COSV108045174 rs568122136 | 112 | V>M | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000016.10:g.67228831G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228831G>A Locations: - p.Val112Met (Ensembl:ENST00000304800) - c.334G>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034128580 | 113 | Q>* | TOPMed | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.67228834C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228834C>T Locations: - p.Gln113Ter (Ensembl:ENST00000304800) - c.337C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1459057112 | 113 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.975) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228835A>G Codon: CAG/CGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228835A>G Locations: - p.Gln113Arg (Ensembl:ENST00000304800) - c.338A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs372965773 | 114 | V>L | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: tolerated (0.24) Somatic: No Accession: NC_000016.10:g.67228837G>C Codon: GTG/CTG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228837G>C Locations: - p.Val114Leu (Ensembl:ENST00000304800) - c.340G>C (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs372965773 | 114 | V>M | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.67228837G>A Codon: GTG/ATG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228837G>A Locations: - p.Val114Met (Ensembl:ENST00000304800) - c.340G>A (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs1388122974 | 115 | L>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.153) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228840C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228840C>T Locations: - p.Leu115Phe (Ensembl:ENST00000304800) - c.343C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1397798875 | 119 | S>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228853C>G Codon: TCT/TGT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228853C>G Locations: - p.Ser119Cys (Ensembl:ENST00000304800) - c.356C>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
COSV99263853 | 120 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.136) - SIFT: tolerated (0.2) Somatic: Yes Accession: NC_000016.10:g.67228855C>G Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228855C>G Locations: - c.358C>G (NCI-TCGA:ENST00000304800) - p.L120V (NCI-TCGA:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs780524297 | 121 | Y>C | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.67228859A>G Codon: TAT/TGT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228859A>G Locations: - p.Tyr121Cys (Ensembl:ENST00000304800) - c.362A>G (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs780524297 | 121 | Y>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.793) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228859A>C Codon: TAT/TCT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228859A>C Locations: - p.Tyr121Ser (Ensembl:ENST00000304800) - c.362A>C (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs1597310829 | 124 | S>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000016.10:g.67228867T>G Codon: TCC/GCC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228867T>G Locations: - p.Ser124Ala (Ensembl:ENST00000304800) - c.370T>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs918067548 | 124 | S>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.679) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.67228868C>G Codon: TCC/TGC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228868C>G Locations: - p.Ser124Cys (Ensembl:ENST00000304800) - c.371C>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs918067548 | 124 | S>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000016.10:g.67228868C>T Codon: TCC/TTC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228868C>T Locations: - p.Ser124Phe (Ensembl:ENST00000304800) - c.371C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1310400294 | 126 | W>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.67228874G>A Codon: TGG/TAG Consequence type: stop gained Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228874G>A Locations: - p.Trp126Ter (Ensembl:ENST00000304800) - c.377G>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034130347 | 127 | L>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228877T>G Codon: CTT/CGT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228877T>G Locations: - p.Leu127Arg (Ensembl:ENST00000304800) - c.380T>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1330913705 | 128 | L>M | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67228879C>A Codon: CTG/ATG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228879C>A Locations: - p.Leu128Met (Ensembl:ENST00000304800) - c.382C>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1271250428 | 131 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.884) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.67228982G>A Codon: GGC/AGC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228982G>A Locations: - p.Gly131Ser (Ensembl:ENST00000304800) - c.391G>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs761613459 | 132 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.96) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.67228986G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228986G>A Locations: - p.Arg132Gln (Ensembl:ENST00000304800) - c.395G>A (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs751537208 | 132 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67228985C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228985C>T Locations: - p.Arg132Trp (Ensembl:ENST00000304800) - c.394C>T (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs2034136193 | 133 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67228988G>T Codon: GCC/TCC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228988G>T Locations: - p.Ala133Ser (Ensembl:ENST00000304800) - c.397G>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
COSV50759957 rs2034136193 | 133 | A>T | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000016.10:g.67228988G>A Codon: GCC/ACC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228988G>A Locations: - p.Ala133Thr (Ensembl:ENST00000304800) - c.397G>A (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs767456502 | 134 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated (0.75) Somatic: No Accession: NC_000016.10:g.67228991C>T Codon: CTT/TTT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228991C>T Locations: - p.Leu134Phe (Ensembl:ENST00000304800) - c.400C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
COSV99264073 | 134 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.284) - SIFT: tolerated (0.32) Somatic: Yes Accession: NC_000016.10:g.67228991C>A Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228991C>A Locations: - c.400C>A (NCI-TCGA:ENST00000304800) - p.L134I (NCI-TCGA:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034136864 | 135 | Y>H | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.226) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000016.10:g.67228994T>C Codon: TAC/CAC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228994T>C Locations: - p.Tyr135His (Ensembl:ENST00000304800) - c.403T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1304791713 | 135 | Y>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67228995A>C Codon: TAC/TCC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228995A>C Locations: - p.Tyr135Ser (Ensembl:ENST00000304800) - c.404A>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs755668492 | 136 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.801) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.67228997C>T Codon: CTC/TTC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67228997C>T Locations: - p.Leu136Phe (Ensembl:ENST00000304800) - c.406C>T (Ensembl:ENST00000304800) Source type: large scale study | |||||||
COSV99264112 | 137 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000016.10:g.67229000C>A Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229000C>A Locations: - c.409C>A (NCI-TCGA:ENST00000304800) - p.L137M (NCI-TCGA:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1209443579 | 137 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67229001T>C Codon: CTG/CCG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229001T>C Locations: - p.Leu137Pro (Ensembl:ENST00000304800) - c.410T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs766197117 | 139 | V>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.483) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.67229006G>T Codon: GTG/TTG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229006G>T Locations: - p.Val139Leu (Ensembl:ENST00000304800) - c.415G>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034137812 | 144 | P>L | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67229022C>T Codon: CCC/CTC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229022C>T Locations: - p.Pro144Leu (Ensembl:ENST00000304800) - c.431C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs779101020 | 144 | P>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67229021C>T Codon: CCC/TCC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229021C>T Locations: - p.Pro144Ser (Ensembl:ENST00000304800) - c.430C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs748723849 | 145 | W>G | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.67229024T>G Codon: TGG/GGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229024T>G Locations: - p.Trp145Gly (Ensembl:ENST00000304800) - c.433T>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
TCGA novel | 146 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000016.10:g.67229027T>C Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229027T>C Locations: - c.436T>C (NCI-TCGA:ENST00000304800) - p.F146L (NCI-TCGA:ENST00000304800) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs2034138221 | 147 | T>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.67229031C>T Codon: ACT/ATT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229031C>T Locations: - p.Thr147Ile (Ensembl:ENST00000304800) - c.440C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034138402 | 148 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000016.10:g.67229033G>A Codon: GCA/ACA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229033G>A Locations: - p.Ala148Thr (Ensembl:ENST00000304800) - c.442G>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1345015872 | 149 | D>E | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000016.10:g.67229038C>A Codon: GAC/GAA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229038C>A Locations: - p.Asp149Glu (Ensembl:ENST00000304800) - c.447C>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs758870713 | 150 | S>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.143) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.67229039A>G Codon: AGT/GGT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229039A>G Locations: - p.Ser150Gly (Ensembl:ENST00000304800) - c.448A>G (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs1274426940 | 150 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000016.10:g.67229040G>A Codon: AGT/AAT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229040G>A Locations: - p.Ser150Asn (Ensembl:ENST00000304800) - c.449G>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034138790 | 150 | S>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.408) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000016.10:g.67229041T>A Codon: AGT/AGA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229041T>A Locations: - p.Ser150Arg (Ensembl:ENST00000304800) - c.450T>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034138974 | 152 | T>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000016.10:g.67229046C>A Codon: ACC/AAC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229046C>A Locations: - p.Thr152Asn (Ensembl:ENST00000304800) - c.455C>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs747149978 | 153 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67229049C>T Codon: CCA/CTA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229049C>T Locations: - p.Pro153Leu (Ensembl:ENST00000304800) - c.458C>T (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs1445515474 | 155 | P>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.67229054C>A Codon: CCA/ACA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229054C>A Locations: - p.Pro155Thr (Ensembl:ENST00000304800) - c.463C>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1477786940 | 156 | E>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.487) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67229058A>C Codon: GAG/GCG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229058A>C Locations: - p.Glu156Ala (Ensembl:ENST00000304800) - c.467A>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs770995133 | 156 | E>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.306) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67229057G>A Codon: GAG/AAG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229057G>A Locations: - p.Glu156Lys (Ensembl:ENST00000304800) - c.466G>A (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs770995133 | 156 | E>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.096) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.67229057G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229057G>C Locations: - p.Glu156Gln (Ensembl:ENST00000304800) - c.466G>C (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs1439788493 | 157 | H>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000016.10:g.67229060C>A Codon: CAC/AAC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229060C>A Locations: - p.His157Asn (Ensembl:ENST00000304800) - c.469C>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2034139850 | 158 | N>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.384) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000016.10:g.67229064A>G Codon: AAT/AGT Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229064A>G Locations: - p.Asn158Ser (Ensembl:ENST00000304800) - c.473A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1335003881 | 159 | E>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67229067A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229067A>G Locations: - p.Glu159Gly (Ensembl:ENST00000304800) - c.476A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1303501511 | 160 | K>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67229070A>G Codon: AAA/AGA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229070A>G Locations: - p.Lys160Arg (Ensembl:ENST00000304800) - c.479A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
COSV99263884 rs374909823 | 161 | R>Q | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000016.10:g.67229073G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229073G>A Locations: - p.Arg161Gln (Ensembl:ENST00000304800) - c.482G>A (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs367680134 | 161 | R>W | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.67229072C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229072C>T Locations: - p.Arg161Trp (Ensembl:ENST00000304800) - c.481C>T (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs1167859116 | 162 | Q>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.67229075C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229075C>T Locations: - p.Gln162Ter (Ensembl:ENST00000304800) - c.484C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs768526166 | 163 | R>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67229078C>T Codon: CGC/TGC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229078C>T Locations: - p.Arg163Cys (Ensembl:ENST00000304800) - c.487C>T (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs774052394 | 163 | R>H | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67229079G>A Codon: CGC/CAC Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229079G>A Locations: - p.Arg163His (Ensembl:ENST00000304800) - c.488G>A (Ensembl:ENST00000304800) Source type: large scale study | |||||||
COSV50768789 rs1046702818 | 164 | R>* | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000016.10:g.67229081C>T Codon: CGA/TGA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229081C>T Locations: - p.Arg164Ter (Ensembl:ENST00000304800) - c.490C>T (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs761643750 | 164 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67229082G>A Codon: CGA/CAA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229082G>A Locations: - p.Arg164Gln (Ensembl:ENST00000304800) - c.491G>A (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs1438243213 | 165 | Q>* | TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000016.10:g.67229084C>T Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229084C>T Locations: - p.Gln165Ter (Ensembl:ENST00000304800) - c.493C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1438243213 | 165 | Q>K | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000016.10:g.67229084C>A Codon: CAG/AAG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229084C>A Locations: - p.Gln165Lys (Ensembl:ENST00000304800) - c.493C>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1597311381 | 166 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67229088A>G Codon: GAG/GGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229088A>G Locations: - p.Glu166Gly (Ensembl:ENST00000304800) - c.497A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1156396745 | 166 | E>Q | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67229087G>C Codon: GAG/CAG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229087G>C Locations: - p.Glu166Gln (Ensembl:ENST00000304800) - c.496G>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs368458522 | 167 | R>Q | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67229091G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229091G>A Locations: - p.Arg167Gln (Ensembl:ENST00000304800) - c.500G>A (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs773193944 | 167 | R>W | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000016.10:g.67229090C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229090C>T Locations: - p.Arg167Trp (Ensembl:ENST00000304800) - c.499C>T (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs765933541 | 168 | R>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67229093C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229093C>G Locations: - p.Arg168Gly (Ensembl:ENST00000304800) - c.502C>G (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs753569766 | 168 | R>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67229094G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229094G>A Locations: - p.Arg168Gln (Ensembl:ENST00000304800) - c.503G>A (Ensembl:ENST00000304800) Source type: large scale study | |||||||
rs765933541 | 168 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) - PolyPhen: unknown (0) - SIFT: tolerated (0.07) Somatic: No Population frequencies: - MAF: 0.00001633 (gnomAD) Accession: NC_000016.10:g.67229093C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229093C>T Locations: - p.R168W (NCI-TCGA:ENST00000304800) - p.Arg168Trp (Ensembl:ENST00000304800) - c.502C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1451313894 | 170 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67229101G>A Codon: ATG/ATA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229101G>A Locations: - p.Met170Ile (Ensembl:ENST00000304800) - c.510G>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1291016849 | 170 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000016.10:g.67229100T>C Codon: ATG/ACG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229100T>C Locations: - p.Met170Thr (Ensembl:ENST00000304800) - c.509T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs754641070 | 170 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000016.10:g.67229099A>G Codon: ATG/GTG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229099A>G Locations: - p.Met170Val (Ensembl:ENST00000304800) - c.508A>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs199532825 | 172 | R>G | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0) Somatic: No Accession: NC_000016.10:g.67229105C>G Codon: CGG/GGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229105C>G Locations: - p.Arg172Gly (Ensembl:ENST00000304800) - c.514C>G (Ensembl:ENST00000304800) Source type: large scale study | |||||||
COSV50773342 rs762312364 | 172 | R>Q | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000016.10:g.67229106G>A Codon: CGG/CAG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229106G>A Locations: - p.Arg172Gln (Ensembl:ENST00000304800) - c.515G>A (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs199532825 | 172 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.789) - SIFT: deleterious (0) - PolyPhen: unknown (0) - SIFT: deleterious (0.02) Somatic: No Population frequencies: - MAF: 0.00002958 (gnomAD) Accession: NC_000016.10:g.67229105C>T Codon: CGG/TGG Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229105C>T Locations: - p.R172W (NCI-TCGA:ENST00000304800) - p.Arg172Trp (Ensembl:ENST00000304800) - c.514C>T (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs2142254129 | 173 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: unknown (0) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000016.10:g.67229108T>G Codon: TTA/GTA Consequence type: missense Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229108T>G Locations: - p.Leu173Val (Ensembl:ENST00000304800) - c.517T>G (Ensembl:ENST00000304800) Source type: large scale study Cross-references: | |||||||
rs1417783083 | 174 | *>Q | TOPMed gnomAD | ||||
Consequence: stop lost Somatic: No Accession: NC_000016.10:g.67229111T>C Codon: TAG/CAG Consequence type: stop lost Cytogenetic band: 16q22.1 Genomic location: NC_000016.10:g.67229111T>C Locations: - p.Ter174GlnextTer29 (Ensembl:ENST00000304800) - c.520T>C (Ensembl:ENST00000304800) Source type: large scale study Cross-references: |