P04118 · COL_HUMAN
- ProteinColipase
- GeneCLPS
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids112 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV52565751 | 1 | M>? | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.35797286C>T Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797286C>T Locations: - c.3G>A (NCI-TCGA:ENST00000259938) - p.M1? (NCI-TCGA:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs2151066273 | 3 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.912) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.35797280C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797280C>G Locations: - p.Lys3Asn (Ensembl:ENST00000259938) - c.9G>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs747055917 | 5 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35797275A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797275A>G Locations: - p.Leu5Pro (Ensembl:ENST00000259938) - c.14T>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1378018837 | 5 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.801) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000006.12:g.35797276G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797276G>C Locations: - p.Leu5Val (Ensembl:ENST00000259938) - c.13C>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1400478202 | 6 | I>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000006.12:g.35797273T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797273T>G Locations: - p.Ile6Leu (Ensembl:ENST00000259938) - c.16A>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
VAR_053040 rs2766597 | 8 | L>P | UniProt 1000Genomes ESP ExAC dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000006.12:g.35797266A>G Codon: CTG/CCG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797266A>G Locations: - p.Leu8Pro (UniProt:P04118) Source type: mixed Cross-references: | |||||||
rs1395448153 | 9 | L>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.35797264G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797264G>A Locations: - p.Leu9Phe (Ensembl:ENST00000259938) - c.25C>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs779892659 | 9 | L>P | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.966) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.35797263A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797263A>G Locations: - p.Leu9Pro (Ensembl:ENST00000259938) - c.26T>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1391790164 | 10 | V>D | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.106) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000006.12:g.35797260A>T Codon: GTC/GAC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797260A>T Locations: - p.Val10Asp (Ensembl:ENST00000259938) - c.29T>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1391790164 | 10 | V>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.35797260A>C Codon: GTC/GGC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797260A>C Locations: - p.Val10Gly (Ensembl:ENST00000259938) - c.29T>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1422981055 | 10 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.47) Somatic: No Accession: NC_000006.12:g.35797261C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797261C>T Locations: - p.Val10Ile (Ensembl:ENST00000259938) - c.28G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
COSV52566001 rs529464575 | 11 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.74) - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000006.12:g.35797258C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797258C>T Locations: - p.A11T (NCI-TCGA:ENST00000259938) - p.Ala11Thr (Ensembl:ENST00000259938) - c.31G>A (Ensembl:ENST00000259938) Source type: large scale study | |||||||
rs781207545 | 12 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.934) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000006.12:g.35797255G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797255G>A Locations: - p.Leu12Phe (Ensembl:ENST00000259938) - c.34C>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
TCGA novel | 14 | V>W | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000006.12:g.35797250del Consequence type: frameshift Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797250del Locations: - c.39del (NCI-TCGA:ENST00000259938) - p.V14Wfs*22 (NCI-TCGA:ENST00000259938) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1768391450 | 15 | A>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.955) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35797245G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797245G>T Locations: - p.Ala15Asp (Ensembl:ENST00000259938) - c.44C>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs200244589 | 15 | A>S | 1000Genomes gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.86) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000006.12:g.35797246C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797246C>A Locations: - p.Ala15Ser (Ensembl:ENST00000259938) - c.43G>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
TCGA novel | 15 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000006.12:g.35797245G>A Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797245G>A Locations: - c.44C>T (NCI-TCGA:ENST00000259938) - p.A15V (NCI-TCGA:ENST00000259938) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1768391383 | 16 | Y>C | Variant of uncertain significance (Ensembl) | Ensembl | |||
Consequence: missense Predictions: - PolyPhen: benign (0.217) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000006.12:g.35797242T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797242T>C Locations: - p.Tyr16Cys (Ensembl:ENST00000259938) - c.47A>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1350639651 | 18 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000006.12:g.35797236G>A Codon: GCT/GTT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797236G>A Locations: - p.Ala18Val (Ensembl:ENST00000259938) - c.53C>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
COSV99463877 rs1267702100 | 19 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.03) - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.05) Somatic: Yes Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000006.12:g.35797234G>A Codon: CCT/TCT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797234G>A Locations: - p.P19S (NCI-TCGA:ENST00000259938) - p.Pro19Ser (Ensembl:ENST00000259938) - c.55C>T (Ensembl:ENST00000259938) Source type: large scale study | |||||||
rs763736793 | 20 | G>D | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.35797230C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797230C>T Locations: - p.Gly20Asp (Ensembl:ENST00000259938) - c.59G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1768390776 | 20 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.006) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000006.12:g.35797231C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797231C>T Locations: - p.Gly20Ser (Ensembl:ENST00000259938) - c.58G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs763736793 | 20 | G>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.149) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000006.12:g.35797230C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797230C>A Locations: - p.Gly20Val (Ensembl:ENST00000259938) - c.59G>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
COSV52565954 | 21 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000006.12:g.35797227G>A Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797227G>A Locations: - c.62C>T (NCI-TCGA:ENST00000259938) - p.P21L (NCI-TCGA:ENST00000259938) Source type: large scale study Cross-references: | |||||||
COSV52566402 rs867356635 | 21 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000006.12:g.35797228G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797228G>A Locations: - p.P21S (NCI-TCGA:ENST00000259938) - p.Pro21Ser (Ensembl:ENST00000259938) - c.61C>T (Ensembl:ENST00000259938) Source type: large scale study | |||||||
rs372093288 | 22 | R>G | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.869) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35797225G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797225G>C Locations: - p.Arg22Gly (Ensembl:ENST00000259938) - c.64C>G (Ensembl:ENST00000259938) Source type: large scale study | |||||||
COSV52567510 rs140966197 | 22 | R>P | cosmic curated 1000Genomes ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000006.12:g.35797224C>G Codon: CGG/CCG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797224C>G Locations: - p.Arg22Pro (Ensembl:ENST00000259938) - c.65G>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
COSV52566165 rs140966197 | 22 | R>Q | cosmic curated 1000Genomes ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.869) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000006.12:g.35797224C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797224C>T Locations: - p.Arg22Gln (Ensembl:ENST00000259938) - c.65G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
COSV105012470 rs372093288 | 22 | R>W | cosmic curated ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000006.12:g.35797225G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797225G>A Locations: - p.Arg22Trp (Ensembl:ENST00000259938) - c.64C>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1241944041 | 23 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35797222C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797222C>T Locations: - p.Gly23Arg (Ensembl:ENST00000259938) - c.67G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1768389683 | 26 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000006.12:g.35797212A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797212A>G Locations: - p.Ile26Thr (Ensembl:ENST00000259938) - c.77T>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1768389754 | 26 | I>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000006.12:g.35797213T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35797213T>C Locations: - p.Ile26Val (Ensembl:ENST00000259938) - c.76A>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1473812421 | 29 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.35795851C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795851C>A Locations: - p.Glu29Asp (Ensembl:ENST00000259938) - c.87G>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
COSV52566154 rs751569641 | 29 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.258) - SIFT: tolerated (0.11) - PolyPhen: benign (0.266) - SIFT: tolerated (0.12) Somatic: Yes Population frequencies: - MAF: 0.000004007 (gnomAD) Accession: NC_000006.12:g.35795853C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795853C>T Locations: - p.E29K (NCI-TCGA:ENST00000259938) - p.Glu29Lys (Ensembl:ENST00000259938) - c.85G>A (Ensembl:ENST00000259938) Source type: large scale study | |||||||
rs201723286 | 30 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.204) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000006.12:g.35795848G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795848G>T Locations: - p.Asn30Lys (Ensembl:ENST00000259938) - c.90C>A (Ensembl:ENST00000259938) Source type: large scale study | |||||||
COSV106370935 rs748075746 | 31 | G>S | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.978) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.35795847C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795847C>T Locations: - p.Gly31Ser (Ensembl:ENST00000259938) - c.91G>A (Ensembl:ENST00000259938) Source type: large scale study | |||||||
rs373305697 | 33 | L>F | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.957) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.35795841G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795841G>A Locations: - p.Leu33Phe (Ensembl:ENST00000259938) - c.97C>T (Ensembl:ENST00000259938) Source type: large scale study | |||||||
rs770146707 | 34 | C>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795837C>A Codon: TGC/TTC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795837C>A Locations: - p.Cys34Phe (Ensembl:ENST00000259938) - c.101G>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs770146707 | 34 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.901) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795837C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795837C>T Locations: - p.Cys34Tyr (Ensembl:ENST00000259938) - c.101G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
COSV52566881 rs1356710984 | 35 | M>I | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000006.12:g.35795833C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795833C>T Locations: - p.Met35Ile (Ensembl:ENST00000259938) - c.105G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs760509453 | 35 | M>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.35795835T>A, NC_000006.12:g.35795835T>G Codon: ATG/TTG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795835T>A, NC_000006.12:g.35795835T>G Locations: - p.Met35Leu (Ensembl:ENST00000259938) - c.103A>T (Ensembl:ENST00000259938) - c.103A>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1211417050 | 35 | M>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.089) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795834A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795834A>G Locations: - p.Met35Thr (Ensembl:ENST00000259938) - c.104T>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs760509453 | 35 | M>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000006.12:g.35795835T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795835T>C Locations: - p.Met35Val (Ensembl:ENST00000259938) - c.103A>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs963027635 | 36 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.834) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000006.12:g.35795831T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795831T>C Locations: - p.Asn36Ser (Ensembl:ENST00000259938) - c.107A>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1264620527 | 37 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795828C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795828C>T Locations: - p.Ser37Asn (Ensembl:ENST00000259938) - c.110G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1264620527 | 37 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.556) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.35795828C>G Codon: AGT/ACT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795828C>G Locations: - p.Ser37Thr (Ensembl:ENST00000259938) - c.110G>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
TCGA novel | 38 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.258) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000006.12:g.35795826C>T Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795826C>T Locations: - c.112G>A (NCI-TCGA:ENST00000259938) - p.A38T (NCI-TCGA:ENST00000259938) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs773085590 | 38 | A>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000006.12:g.35795825G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795825G>A Locations: - p.Ala38Val (Ensembl:ENST00000259938) - c.113C>T (Ensembl:ENST00000259938) Source type: large scale study | |||||||
rs1768349344 | 39 | Q>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.35795822T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795822T>C Locations: - p.Gln39Arg (Ensembl:ENST00000259938) - c.116A>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1014768828 | 40 | C>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795819C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795819C>T Locations: - p.Cys40Tyr (Ensembl:ENST00000259938) - c.119G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1311590635 | 42 | S>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795814T>A Codon: AGC/TGC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795814T>A Locations: - p.Ser42Cys (Ensembl:ENST00000259938) - c.124A>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
COSV99463674 | 42 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.35795813C>A Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795813C>A Locations: - c.125G>T (NCI-TCGA:ENST00000259938) - p.S42I (NCI-TCGA:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1447560624 | 43 | N>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.192) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.35795810T>A Codon: AAT/ATT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795810T>A Locations: - p.Asn43Ile (Ensembl:ENST00000259938) - c.128A>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1447560624 | 43 | N>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.35795810T>G Codon: AAT/ACT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795810T>G Locations: - p.Asn43Thr (Ensembl:ENST00000259938) - c.128A>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
COSV52566780 COSV52566780,COSV99463868 COSV99463868 | 44 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.35795807C>T Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795807C>T Locations: - c.131G>A (NCI-TCGA:ENST00000259938) - p.C44Y (NCI-TCGA:ENST00000259938) Source type: large scale study | |||||||
rs2151065542 | 45 | C>W | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795803G>C Codon: TGC/TGG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795803G>C Locations: - p.Cys45Trp (Ensembl:ENST00000259938) - c.135C>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs778278888 | 45 | C>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795804C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795804C>T Locations: - p.Cys45Tyr (Ensembl:ENST00000259938) - c.134G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1768348256 | 46 | Q>* | Ensembl | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.35795802G>A Codon: CAG/TAG Consequence type: stop gained Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795802G>A Locations: - p.Gln46Ter (Ensembl:ENST00000259938) - c.136C>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1231211321 | 46 | Q>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.204) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.35795801T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795801T>C Locations: - p.Gln46Arg (Ensembl:ENST00000259938) - c.137A>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs768210121 | 47 | H>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.177) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795799G>T Codon: CAT/AAT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795799G>T Locations: - p.His47Asn (Ensembl:ENST00000259938) - c.139C>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs748806400 | 47 | H>Q | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.35795797A>C Codon: CAT/CAG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795797A>C Locations: - p.His47Gln (Ensembl:ENST00000259938) - c.141T>G (Ensembl:ENST00000259938) Source type: large scale study | |||||||
COSV52566217 rs114191664 | 50 | A>V | cosmic curated 1000Genomes ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.062) - SIFT: deleterious (0.05) Somatic: Yes Accession: NC_000006.12:g.35795789G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795789G>A Locations: - p.Ala50Val (Ensembl:ENST00000259938) - c.149C>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs781657138 | 52 | G>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.814) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795784C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795784C>A Locations: - p.Gly52Cys (Ensembl:ENST00000259938) - c.154G>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs781657138 | 52 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.35795784C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795784C>T Locations: - p.Gly52Ser (Ensembl:ENST00000259938) - c.154G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs757673222 | 54 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795777G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795777G>A Locations: - p.Ala54Val (Ensembl:ENST00000259938) - c.161C>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs752167102 | 55 | R>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795775G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795775G>A Locations: - p.Arg55Cys (Ensembl:ENST00000259938) - c.163C>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs142530335 | 55 | R>H | 1000Genomes ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795774C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795774C>T Locations: - p.Arg55His (Ensembl:ENST00000259938) - c.164G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs142530335 | 55 | R>P | 1000Genomes ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795774C>G Codon: CGC/CCC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795774C>G Locations: - p.Arg55Pro (Ensembl:ENST00000259938) - c.164G>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
TCGA novel | 55 | R>S | 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_000006.12:g.35795775G>T Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795775G>T Locations: - c.163C>A (NCI-TCGA:ENST00000259938) - p.R55S (NCI-TCGA:ENST00000259938) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1768346404 | 56 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795771C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795771C>T Locations: - p.Cys56Tyr (Ensembl:ENST00000259938) - c.167G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1357600229 | 57 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000006.12:g.35795768G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795768G>A Locations: - p.Thr57Ile (Ensembl:ENST00000259938) - c.170C>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs752858758 | 58 | S>P | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000006.12:g.35795766A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795766A>G Locations: - p.Ser58Pro (Ensembl:ENST00000259938) - c.172T>C (Ensembl:ENST00000259938) Source type: large scale study | |||||||
rs752858758 | 58 | S>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.035) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.35795766A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795766A>T Locations: - p.Ser58Thr (Ensembl:ENST00000259938) - c.172T>A (Ensembl:ENST00000259938) Source type: large scale study | |||||||
rs1768345650 | 59 | M>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795761C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795761C>T Locations: - p.Met59Ile (Ensembl:ENST00000259938) - c.177G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs759890280 | 59 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795762A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795762A>G Locations: - p.Met59Thr (Ensembl:ENST00000259938) - c.176T>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs535823602 | 59 | M>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.01) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795763T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795763T>C Locations: - p.Met59Val (Ensembl:ENST00000259938) - c.175A>G (Ensembl:ENST00000259938) Source type: large scale study | |||||||
rs147844591 | 60 | A>T | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.35795760C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795760C>T Locations: - p.Ala60Thr (Ensembl:ENST00000259938) - c.178G>A (Ensembl:ENST00000259938) Source type: large scale study | |||||||
rs1390477038 | 61 | S>N | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.076) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795756C>T Codon: AGC/AAC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795756C>T Locations: - p.Ser61Asn (Ensembl:ENST00000259938) - c.182G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs144552522 | 61 | S>R | ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000006.12:g.35795755G>T Codon: AGC/AGA Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795755G>T Locations: - p.Ser61Arg (Ensembl:ENST00000259938) - c.183C>A (Ensembl:ENST00000259938) Source type: large scale study | |||||||
COSV99463921 rs1332156651 | 62 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.942) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000007989 (gnomAD) Accession: NC_000006.12:g.35795754C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795754C>T Locations: - p.E62K (NCI-TCGA:ENST00000259938) - p.Glu62Lys (Ensembl:ENST00000259938) - c.184G>A (Ensembl:ENST00000259938) Source type: large scale study | |||||||
rs1456365631 | 63 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.967) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000006.12:g.35795751T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795751T>C Locations: - p.Asn63Asp (Ensembl:ENST00000259938) - c.187A>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs369964160 | 65 | E>* | ESP ExAC TOPMed gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.35795745C>A Codon: GAG/TAG Consequence type: stop gained Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795745C>A Locations: - p.Glu65Ter (Ensembl:ENST00000259938) - c.193G>T (Ensembl:ENST00000259938) Source type: large scale study | |||||||
COSV107275263 rs369964160 | 65 | E>K | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.034) - SIFT: tolerated (0.12) Somatic: Yes Accession: NC_000006.12:g.35795745C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795745C>T Locations: - p.Glu65Lys (Ensembl:ENST00000259938) - c.193G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1399740520 | 67 | S>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795739A>C Codon: TCT/GCT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795739A>C Locations: - p.Ser67Ala (Ensembl:ENST00000259938) - c.199T>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs775002903 | 67 | S>C | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795738G>C Codon: TCT/TGT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795738G>C Locations: - p.Ser67Cys (Ensembl:ENST00000259938) - c.200C>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs775002903 | 67 | S>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795738G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795738G>A Locations: - p.Ser67Phe (Ensembl:ENST00000259938) - c.200C>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
COSV52567386 rs1000840014 | 68 | V>F | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.124) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000006.12:g.35795736C>A Codon: GTC/TTC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795736C>A Locations: - p.Val68Phe (Ensembl:ENST00000259938) - c.202G>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1178438731 | 70 | T>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.398) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.35795277T>C Codon: ACG/GCG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795277T>C Locations: - p.Thr70Ala (Ensembl:ENST00000259938) - c.208A>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
COSV52567473 rs140627661 | 70 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated 1000Genomes ESP ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (0.949) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.0004 (1000Genomes) Accession: NC_000006.12:g.35795276G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795276G>A Locations: - p.T70M (NCI-TCGA:ENST00000259938) - p.Thr70Met (Ensembl:ENST00000259938) - c.209C>T (Ensembl:ENST00000259938) Source type: large scale study | |||||||
rs1359439305 | 71 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.926) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.35795273A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795273A>G Locations: - p.Leu71Pro (Ensembl:ENST00000259938) - c.212T>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1404809311 | 72 | Y>C | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795270T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795270T>C Locations: - p.Tyr72Cys (Ensembl:ENST00000259938) - c.215A>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs772679554 | 72 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000006.12:g.35795271A>G Codon: TAT/CAT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795271A>G Locations: - p.Tyr72His (Ensembl:ENST00000259938) - c.214T>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs779118221 | 75 | Y>* | ExAC gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000006.12:g.35795260G>T Codon: TAC/TAA Consequence type: stop gained Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795260G>T Locations: - p.Tyr75Ter (Ensembl:ENST00000259938) - c.225C>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs2151065244 | 75 | Y>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795261T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795261T>C Locations: - p.Tyr75Cys (Ensembl:ENST00000259938) - c.224A>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1400880683 | 76 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.488) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795258T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795258T>C Locations: - p.Tyr76Cys (Ensembl:ENST00000259938) - c.227A>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs2151065231 | 78 | C>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795253A>G Codon: TGT/CGT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795253A>G Locations: - p.Cys78Arg (Ensembl:ENST00000259938) - c.232T>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1768328138 | 80 | C>Y | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795246C>T Codon: TGT/TAT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795246C>T Locations: - p.Cys80Tyr (Ensembl:ENST00000259938) - c.239G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1169523042 | 81 | E>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795242C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795242C>A Locations: - p.Glu81Asp (Ensembl:ENST00000259938) - c.243G>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1581960591 | 81 | E>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795243T>C Codon: GAG/GGG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795243T>C Locations: - p.Glu81Gly (Ensembl:ENST00000259938) - c.242A>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
COSV52566762 rs755023217 | 82 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.95) - SIFT: deleterious (0.01) - PolyPhen: probably damaging (0.949) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.00001194 (gnomAD) Accession: NC_000006.12:g.35795241G>A Codon: CGT/TGT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795241G>A Locations: - p.R82C (NCI-TCGA:ENST00000259938) - p.Arg82Cys (Ensembl:ENST00000259938) - c.244C>T (Ensembl:ENST00000259938) Source type: large scale study | |||||||
COSV52566047 rs114778877 | 82 | R>H | cosmic curated 1000Genomes ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000006.12:g.35795240C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795240C>T Locations: - p.Arg82His (Ensembl:ENST00000259938) - c.245G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1768327637 | 83 | G>C | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795238C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795238C>A Locations: - p.Gly83Cys (Ensembl:ENST00000259938) - c.247G>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1183874815 | 84 | L>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795234A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795234A>C Locations: - p.Leu84Arg (Ensembl:ENST00000259938) - c.251T>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs780280266 | 85 | T>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.818) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000006.12:g.35795231G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795231G>T Locations: - p.Thr85Asn (Ensembl:ENST00000259938) - c.254C>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1181803210 COSV52566142 | 88 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | gnomAD NCI-TCGA Cosmic cosmic curated dbSNP | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.776) - SIFT: deleterious (0.05) - PolyPhen: possibly damaging (0.784) - SIFT: deleterious (0) Somatic: Yes Population frequencies: - MAF: 0.000003979 (gnomAD) Accession: NC_000006.12:g.35795223C>G, NC_000006.12:g.35795223C>T Codon: GGA/CGA Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795223C>G, NC_000006.12:g.35795223C>T Locations: - p.Gly88Arg (Ensembl:ENST00000259938) - c.262G>C (Ensembl:ENST00000259938) - p.G88R (NCI-TCGA:ENST00000259938) - c.262G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs376103498 | 88 | G>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.45) Somatic: No Accession: NC_000006.12:g.35795222C>A Codon: GGA/GTA Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795222C>A Locations: - p.Gly88Val (Ensembl:ENST00000259938) - c.263G>T (Ensembl:ENST00000259938) Source type: large scale study | |||||||
rs1197437577 | 89 | D>A | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.963) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795219T>G Codon: GAC/GCC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795219T>G Locations: - p.Asp89Ala (Ensembl:ENST00000259938) - c.266A>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs762873369 | 89 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.35795218G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795218G>T Locations: - p.Asp89Glu (Ensembl:ENST00000259938) - c.267C>A (Ensembl:ENST00000259938) Source type: large scale study | |||||||
COSV52567360 | 91 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.697) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000006.12:g.35795213G>A Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795213G>A Locations: - c.272C>T (NCI-TCGA:ENST00000259938) - p.T91I (NCI-TCGA:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs537217497 | 92 | I>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.495) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000006.12:g.35795211T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795211T>C Locations: - p.Ile92Val (Ensembl:ENST00000259938) - c.274A>G (Ensembl:ENST00000259938) Source type: large scale study | |||||||
rs1768326431 | 93 | V>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.144) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795207A>G Codon: GTG/GCG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795207A>G Locations: - p.Val93Ala (Ensembl:ENST00000259938) - c.278T>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
COSV52565708 rs150755879 | 93 | V>M | cosmic curated 1000Genomes ESP ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.632) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000006.12:g.35795208C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795208C>T Locations: - p.Val93Met (Ensembl:ENST00000259938) - c.277G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1312307939 | 94 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795205C>G Codon: GGC/CGC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795205C>G Locations: - p.Gly94Arg (Ensembl:ENST00000259938) - c.280G>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1803299 | 94 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795204C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795204C>A Locations: - p.Gly94Val (Ensembl:ENST00000259938) - c.281G>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1448299126 | 95 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.594) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795202A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795202A>G Locations: - p.Ser95Pro (Ensembl:ENST00000259938) - c.283T>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1581960492 | 97 | T>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.973) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795196T>G Codon: ACC/CCC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795196T>G Locations: - p.Thr97Pro (Ensembl:ENST00000259938) - c.289A>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1439916319 | 98 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.556) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795192T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795192T>C Locations: - p.Asn98Ser (Ensembl:ENST00000259938) - c.293A>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1439916319 | 98 | N>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.94) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795192T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795192T>G Locations: - p.Asn98Thr (Ensembl:ENST00000259938) - c.293A>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1295100322 | 99 | T>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795189G>A Codon: ACC/ATC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795189G>A Locations: - p.Thr99Ile (Ensembl:ENST00000259938) - c.296C>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1351468584 | 100 | N>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.599) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795186T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795186T>C Locations: - p.Asn100Ser (Ensembl:ENST00000259938) - c.299A>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1246656395 | 102 | G>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795181C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795181C>T Locations: - p.Gly102Ser (Ensembl:ENST00000259938) - c.304G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs2151065172 | 102 | G>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795180C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795180C>A Locations: - p.Gly102Val (Ensembl:ENST00000259938) - c.305G>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs932958368 | 103 | I>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000006.12:g.35795177A>G Codon: ATC/ACC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795177A>G Locations: - p.Ile103Thr (Ensembl:ENST00000259938) - c.308T>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1581960449 | 103 | I>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.58) Somatic: No Accession: NC_000006.12:g.35795178T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795178T>C Locations: - p.Ile103Val (Ensembl:ENST00000259938) - c.307A>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs922966521 | 104 | C>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795174C>T Codon: TGC/TAC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795174C>T Locations: - p.Cys104Tyr (Ensembl:ENST00000259938) - c.311G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1384786432 | 105 | H>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000006.12:g.35795171T>C Codon: CAT/CGT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795171T>C Locations: - p.His105Arg (Ensembl:ENST00000259938) - c.314A>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1193349641 | 106 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000006.12:g.35795169C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795169C>T Locations: - p.Asp106Asn (Ensembl:ENST00000259938) - c.316G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs748533143 | 107 | A>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000006.12:g.35795166C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795166C>A Locations: - p.Ala107Ser (Ensembl:ENST00000259938) - c.319G>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
COSV52566647 rs748533143 | 107 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.28) - PolyPhen: benign (0.011) - SIFT: tolerated (0.08) Somatic: Yes Population frequencies: - MAF: 0.000007961 (gnomAD) Accession: NC_000006.12:g.35795166C>T Codon: GCT/ACT Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795166C>T Locations: - p.A107T (NCI-TCGA:ENST00000259938) - p.Ala107Thr (Ensembl:ENST00000259938) - c.319G>A (Ensembl:ENST00000259938) Source type: large scale study | |||||||
rs1177205190 | 108 | G>E | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.041) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000006.12:g.35795162C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795162C>T Locations: - p.Gly108Glu (Ensembl:ENST00000259938) - c.323G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1251323028 | 108 | G>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000006.12:g.35795163C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795163C>T Locations: - p.Gly108Arg (Ensembl:ENST00000259938) - c.322G>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
VAR_047105 rs41270082 | 109 | R>C | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||||
Consequence: missense Somatic: No Accession: NC_000006.12:g.35795160G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795160G>A Locations: - p.Arg109Cys (UniProt:P04118) Source type: mixed Cross-references: | |||||||
rs41270082 | 109 | R>G | 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.061) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000006.12:g.35795160G>C Codon: CGC/GGC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795160G>C Locations: - p.Arg109Gly (Ensembl:ENST00000259938) - c.325C>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
COSV52565739 rs780396671 | 109 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.14) - SIFT: tolerated (0.07) - PolyPhen: possibly damaging (0.546) - SIFT: tolerated (0.06) Somatic: Yes Population frequencies: - MAF: 0.00003586 (gnomAD) Accession: NC_000006.12:g.35795159C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795159C>T Locations: - p.R109H (NCI-TCGA:ENST00000259938) - p.Arg109His (Ensembl:ENST00000259938) - c.326G>A (Ensembl:ENST00000259938) Source type: large scale study | |||||||
COSV52565930 rs41270082 | 109 | R>S | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.36) Somatic: Yes Accession: NC_000006.12:g.35795160G>T Codon: CGC/AGC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795160G>T Locations: - p.Arg109Ser (Ensembl:ENST00000259938) - c.325C>A (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs1223621708 | 110 | S>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.287) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000006.12:g.35795157A>G Codon: TCC/CCC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795157A>G Locations: - p.Ser110Pro (Ensembl:ENST00000259938) - c.328T>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs373598060 | 111 | K>N | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000006.12:g.35795152C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795152C>G Locations: - p.Lys111Asn (Ensembl:ENST00000259938) - c.333G>C (Ensembl:ENST00000259938) Source type: large scale study | |||||||
rs1358326942 | 111 | K>R | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.137) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000006.12:g.35795153T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795153T>C Locations: - p.Lys111Arg (Ensembl:ENST00000259938) - c.332A>G (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
COSV99463606 COSV99463606,COSV99463707 COSV99463707 | 113 | *>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop retained Somatic: No Accession: NC_000006.12:g.35795147C>T Consequence type: stop retained Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795147C>T Locations: - c.338G>A (NCI-TCGA:ENST00000259938) - p.*113= (NCI-TCGA:ENST00000259938) Source type: large scale study | |||||||
rs1304784652 | 113 | *>C | TOPMed | ||||
Consequence: stop lost Somatic: No Accession: NC_000006.12:g.35795146T>A Codon: TGA/TGT Consequence type: stop lost Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795146T>A Locations: - p.Ter113CysextTer42 (Ensembl:ENST00000259938) - c.339A>T (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
rs898044867 | 113 | *>R | TOPMed | ||||
Consequence: stop lost Somatic: No Accession: NC_000006.12:g.35795148A>G Codon: TGA/CGA Consequence type: stop lost Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795148A>G Locations: - p.Ter113ArgextTer42 (Ensembl:ENST00000259938) - c.337T>C (Ensembl:ENST00000259938) Source type: large scale study Cross-references: | |||||||
COSV99463606 COSV99463606,COSV99463707 COSV99463707 | 113 | *>S | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop lost Somatic: No Accession: NC_000006.12:g.35795147C>G Consequence type: stop lost Cytogenetic band: 6p21.31 Genomic location: NC_000006.12:g.35795147C>G Locations: - c.338G>C (NCI-TCGA:ENST00000259938) - p.*113Sext*42 (NCI-TCGA:ENST00000259938) Source type: large scale study |