P49903 · SPS1_HUMAN
- ProteinSelenide, water dikinase 1
- GeneSEPHS1
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids392 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV59258195 | 3 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.115) - SIFT: tolerated - low confidence (0.14) Somatic: Yes Accession: NC_000010.11:g.13344943G>A Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344943G>A Locations: - c.8C>T (NCI-TCGA:ENST00000327347) - p.T3M (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833883655 | 4 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.365) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000010.11:g.13344940C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344940C>T Locations: - p.Arg4Gln (Ensembl:ENST00000327347) - c.11G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59259997 | 5 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: Yes Accession: NC_000010.11:g.13344938C>T Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344938C>T Locations: - c.13G>A (NCI-TCGA:ENST00000327347) - p.E5K (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59256922 COSV59258073 rs1274393616 | 6 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.706) - SIFT: tolerated (0.05) - PolyPhen: possibly damaging (0.715) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000010.11:g.13344934G>C Codon: TCC/TGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344934G>C Locations: - p.S6C (NCI-TCGA:ENST00000327347) - p.Ser6Cys (Ensembl:ENST00000327347) - c.17C>G (Ensembl:ENST00000327347) Source type: large scale study | |||||||
COSV59258073 rs1274393616 | 6 | S>F | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.651) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000010.11:g.13344934G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344934G>A Locations: - p.Ser6Phe (Ensembl:ENST00000327347) - c.17C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1468504932 | 6 | S>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.41) Somatic: No Accession: NC_000010.11:g.13344935A>T Codon: TCC/ACC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344935A>T Locations: - p.Ser6Thr (Ensembl:ENST00000327347) - c.16T>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs781715713 | 9 | P>L | Variant of uncertain significance (Ensembl) | ExAC gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.13344925G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344925G>A Locations: - p.Pro9Leu (Ensembl:ENST00000327347) - c.26C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59260140 rs146099433 | 9 | P>S | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000010.11:g.13344926G>A Codon: CCG/TCG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344926G>A Locations: - p.Pro9Ser (Ensembl:ENST00000327347) - c.25C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV100525683 | 11 | S>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.22) Somatic: Yes Accession: NC_000010.11:g.13344920T>C Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344920T>C Locations: - c.31A>G (NCI-TCGA:ENST00000327347) - p.S11G (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs747451158 | 11 | S>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.36) Somatic: No Accession: NC_000010.11:g.13344919C>T Codon: AGT/AAT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344919C>T Locations: - p.Ser11Asn (Ensembl:ENST00000327347) - c.32G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs762547449 | 12 | Y>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (1) Somatic: No Accession: NC_000010.11:g.13344917A>G Codon: TAC/CAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344917A>G Locations: - p.Tyr12His (Ensembl:ENST00000327347) - c.34T>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs762547449 | 12 | Y>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.097) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000010.11:g.13344917A>T Codon: TAC/AAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344917A>T Locations: - p.Tyr12Asn (Ensembl:ENST00000327347) - c.34T>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
TCGA novel | 13 | E>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000010.11:g.13344913T>C Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344913T>C Locations: - c.38A>G (NCI-TCGA:ENST00000327347) - p.E13G (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV59257326 | 13 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.08) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000010.11:g.13344914C>T Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344914C>T Locations: - c.37G>A (NCI-TCGA:ENST00000327347) - p.E13K (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1440317431 | 15 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.339) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000010.11:g.13344907T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344907T>C Locations: - p.Asp15Gly (Ensembl:ENST00000327347) - c.44A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833882919 | 15 | D>N | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.12) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000010.11:g.13344908C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344908C>T Locations: - p.Asp15Asn (Ensembl:ENST00000327347) - c.43G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833882742 | 16 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000010.11:g.13344904T>C Codon: AAA/AGA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344904T>C Locations: - p.Lys16Arg (Ensembl:ENST00000327347) - c.47A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833882689 | 17 | S>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.091) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000010.11:g.13344902T>G Codon: AGC/CGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344902T>G Locations: - p.Ser17Arg (Ensembl:ENST00000327347) - c.49A>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1451535181 | 19 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.071) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000010.11:g.13344895C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344895C>T Locations: - p.Arg19Gln (Ensembl:ENST00000327347) - c.56G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59257697 rs1327907950 | 19 | R>W | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000010.11:g.13344896G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344896G>A Locations: - p.Arg19Trp (Ensembl:ENST00000327347) - c.55C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
TCGA novel | 23 | F>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.702) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13344883A>G Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344883A>G Locations: - c.68T>C (NCI-TCGA:ENST00000327347) - p.F23S (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1306213210 | 23 | F>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000010.11:g.13344883A>T Codon: TTC/TAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344883A>T Locations: - p.Phe23Tyr (Ensembl:ENST00000327347) - c.68T>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs2130701744 | 28 | G>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.147) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000010.11:g.13344868C>T Codon: GGC/GAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344868C>T Locations: - p.Gly28Asp (Ensembl:ENST00000327347) - c.83G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59257112 | 29 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.045) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000010.11:g.13344865G>A Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344865G>A Locations: - c.86C>T (NCI-TCGA:ENST00000327347) - p.T29I (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1410721212 | 29 | T>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.62) Somatic: No Accession: NC_000010.11:g.13344865G>C Codon: ACA/AGA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344865G>C Locations: - p.Thr29Arg (Ensembl:ENST00000327347) - c.86C>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV108167523 rs1833881920 | 30 | G>C | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.373) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000010.11:g.13344863C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344863C>A Locations: - p.Gly30Cys (Ensembl:ENST00000327347) - c.88G>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59258017 | 30 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000010.11:g.13344862C>T Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344862C>T Locations: - c.89G>A (NCI-TCGA:ENST00000327347) - p.G30D (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59260623 | 31 | C>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000010.11:g.13344859C>A Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344859C>A Locations: - c.92G>T (NCI-TCGA:ENST00000327347) - p.C31F (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1282867284 | 31 | C>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.924) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13344860A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344860A>C Locations: - p.Cys31Gly (Ensembl:ENST00000327347) - c.91T>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1192581527 | 34 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: tolerated (0.05) Somatic: No Accession: NC_000010.11:g.13344851G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344851G>A Locations: - p.Pro34Ser (Ensembl:ENST00000327347) - c.100C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
TCGA novel | 35 | Q>P | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000010.11:g.13344847_13344848insG Consequence type: frameshift Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344847_13344848insG Locations: - c.103dup (NCI-TCGA:ENST00000327347) - p.Q35Pfs*20 (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1833881546 | 37 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000010.11:g.13344842C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344842C>T Locations: - p.Val37Ile (Ensembl:ENST00000327347) - c.109G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59259651 | 40 | K>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.026) - SIFT: tolerated (0.23) Somatic: Yes Accession: NC_000010.11:g.13344833T>C Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344833T>C Locations: - c.118A>G (NCI-TCGA:ENST00000327347) - p.K40E (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs767617835 | 41 | L>F | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.873) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000010.11:g.13344828C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344828C>A Locations: - p.Leu41Phe (Ensembl:ENST00000327347) - c.123G>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs751406811 | 43 | E>A | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000010.11:g.13344823T>G Codon: GAA/GCA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344823T>G Locations: - p.Glu43Ala (Ensembl:ENST00000327347) - c.128A>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
TCGA novel | 43 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.54) Somatic: No Accession: NC_000010.11:g.13344824C>T Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344824C>T Locations: - c.127G>A (NCI-TCGA:ENST00000327347) - p.E43K (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1216999560 | 43 | E>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000010.11:g.13344824C>G Codon: GAA/CAA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344824C>G Locations: - p.Glu43Gln (Ensembl:ENST00000327347) - c.127G>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV100525920 | 44 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.561) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000010.11:g.13344820G>C Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344820G>C Locations: - c.131C>G (NCI-TCGA:ENST00000327347) - p.S44C (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs764177751 | 44 | S>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.613) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13344820G>T Codon: TCT/TAT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344820G>T Locations: - p.Ser44Tyr (Ensembl:ENST00000327347) - c.131C>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs898195245 | 49 | H>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.49) Somatic: No Accession: NC_000010.11:g.13344806G>C Codon: CAC/GAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344806G>C Locations: - p.His49Asp (Ensembl:ENST00000327347) - c.145C>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833880828 | 49 | H>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: No Accession: NC_000010.11:g.13344805T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344805T>C Locations: - p.His49Arg (Ensembl:ENST00000327347) - c.146A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1380538190 | 50 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.67) Somatic: No Accession: NC_000010.11:g.13344801G>C Codon: TTC/TTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344801G>C Locations: - p.Phe50Leu (Ensembl:ENST00000327347) - c.150C>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59258518 COSV59259342 | 51 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000010.11:g.13344800G>A Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344800G>A Locations: - c.151C>T (NCI-TCGA:ENST00000327347) - p.Q51* (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833880685 | 51 | Q>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.5) Somatic: No Accession: NC_000010.11:g.13344800G>C Codon: CAA/GAA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344800G>C Locations: - p.Gln51Glu (Ensembl:ENST00000327347) - c.151C>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs775485871 | 52 | E>D | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000010.11:g.13344795T>A Codon: GAA/GAT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344795T>A Locations: - p.Glu52Asp (Ensembl:ENST00000327347) - c.156A>T (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs1361207408 | 52 | E>K | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: tolerated (0.27) Somatic: No Accession: NC_000010.11:g.13344797C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344797C>T Locations: - p.Glu52Lys (Ensembl:ENST00000327347) - c.154G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1432683072 | 53 | D>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000010.11:g.13344793T>A Codon: GAT/GTT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344793T>A Locations: - p.Asp53Val (Ensembl:ENST00000327347) - c.158A>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59260594 | 54 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.56) Somatic: Yes Accession: NC_000010.11:g.13344789C>A Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344789C>A Locations: - c.162G>T (NCI-TCGA:ENST00000327347) - p.E54D (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1483092059 | 54 | E>Q | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.29) Somatic: No Accession: NC_000010.11:g.13344791C>G Codon: GAG/CAG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344791C>G Locations: - p.Glu54Gln (Ensembl:ENST00000327347) - c.160G>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833880234 | 55 | Q>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.18) Somatic: No Accession: NC_000010.11:g.13344787T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344787T>C Locations: - p.Gln55Arg (Ensembl:ENST00000327347) - c.164A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1588551206 | 57 | L>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000010.11:g.13344781A>C Codon: CTG/CGG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344781A>C Locations: - p.Leu57Arg (Ensembl:ENST00000327347) - c.170T>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1588551199 | 58 | G>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000010.11:g.13344779C>T Codon: GGA/AGA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344779C>T Locations: - p.Gly58Arg (Ensembl:ENST00000327347) - c.172G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1167735253 | 60 | V>F | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.3) Somatic: No Accession: NC_000010.11:g.13344773C>A Codon: GTT/TTT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344773C>A Locations: - p.Val60Phe (Ensembl:ENST00000327347) - c.178G>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59259066 rs1167735253 | 60 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.39) - PolyPhen: benign (0) - SIFT: tolerated (0.32) Somatic: Yes Accession: NC_000010.11:g.13344773C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344773C>T Locations: - p.V60I (NCI-TCGA:ENST00000327347) - p.Val60Ile (Ensembl:ENST00000327347) - c.178G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs892254890 | 61 | M>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.28) Somatic: No Accession: NC_000010.11:g.13344769A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344769A>G Locations: - p.Met61Thr (Ensembl:ENST00000327347) - c.182T>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1427371422 | 62 | P>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.116) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.13344767G>A Codon: CCA/TCA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344767G>A Locations: - p.Pro62Ser (Ensembl:ENST00000327347) - c.184C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1372459207 | 63 | R>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.148) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.13344764T>C Codon: AGG/GGG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344764T>C Locations: - p.Arg63Gly (Ensembl:ENST00000327347) - c.187A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs771511207 | 64 | L>F | ExAC | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000010.11:g.13344761G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13344761G>A Locations: - p.Leu64Phe (Ensembl:ENST00000327347) - c.190C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs765405455 | 66 | I>M | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13338804A>C Codon: ATT/ATG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338804A>C Locations: - p.Ile66Met (Ensembl:ENST00000327347) - c.198T>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59258311 rs1833711848 | 67 | G>E | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.903) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000010.11:g.13338802C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338802C>T Locations: - p.Gly67Glu (Ensembl:ENST00000327347) - c.200G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59257560 rs535526745 | 68 | M>I | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.046) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000010.11:g.13338798C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338798C>T Locations: - p.Met68Ile (Ensembl:ENST00000327347) - c.204G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833711772 | 68 | M>V | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.649) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000010.11:g.13338800T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338800T>C Locations: - p.Met68Val (Ensembl:ENST00000327347) - c.202A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
TCGA novel | 69 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.996) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13338797C>T Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338797C>T Locations: - c.205G>A (NCI-TCGA:ENST00000327347) - p.D69N (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1564451575 | 72 | V>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.155) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000010.11:g.13338788C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338788C>T Locations: - p.Val72Ile (Ensembl:ENST00000327347) - c.214G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59256978 | 74 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000010.11:g.13338781G>T Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338781G>T Locations: - c.221C>A (NCI-TCGA:ENST00000327347) - p.P74H (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1455051268 | 74 | P>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.13338781G>C Codon: CCT/CGT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338781G>C Locations: - p.Pro74Arg (Ensembl:ENST00000327347) - c.221C>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59260830 | 77 | H>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.054) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000010.11:g.13338772T>C Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338772T>C Locations: - c.230A>G (NCI-TCGA:ENST00000327347) - p.H77R (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs753857844 | 77 | H>Y | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.393) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000010.11:g.13338773G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338773G>A Locations: - p.His77Tyr (Ensembl:ENST00000327347) - c.229C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs760732126 | 78 | G>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.092) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000010.11:g.13338770C>T Codon: GGT/AGT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338770C>T Locations: - p.Gly78Ser (Ensembl:ENST00000327347) - c.232G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1272526394 | 83 | V>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated (0.09) Somatic: No Accession: NC_000010.11:g.13338755C>T Codon: GTT/ATT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338755C>T Locations: - p.Val83Ile (Ensembl:ENST00000327347) - c.247G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1241082437 | 86 | T>A | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000010.11:g.13338746T>C Codon: ACA/GCA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338746T>C Locations: - p.Thr86Ala (Ensembl:ENST00000327347) - c.256A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs767956492 | 89 | I>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.03) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000010.11:g.13338737T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338737T>C Locations: - p.Ile89Val (Ensembl:ENST00000327347) - c.265A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV100525729 rs1564451521 | 91 | P>L | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000010.11:g.13338730G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338730G>A Locations: - p.Pro91Leu (Ensembl:ENST00000327347) - c.272C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs774883874 | 92 | I>M | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.825) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000010.11:g.13338726G>C Codon: ATC/ATG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338726G>C Locations: - p.Ile92Met (Ensembl:ENST00000327347) - c.276C>G (Ensembl:ENST00000327347) Source type: large scale study | |||||||
COSV59260573 rs769518585 rs769518585,COSV59260573 | 93 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.079) - SIFT: tolerated (0.2) - PolyPhen: benign (0.119) - SIFT: tolerated (0.2) Somatic: Yes Population frequencies: - MAF: 0.000007953 (gnomAD) Accession: NC_000010.11:g.13338725C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338725C>T Locations: - p.V93I (NCI-TCGA:ENST00000327347) - p.Val93Ile (Ensembl:ENST00000327347) - c.277G>A (Ensembl:ENST00000327347) Source type: large scale study | |||||||
COSV105233901 rs776217380 | 95 | D>N | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.933) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000010.11:g.13338719C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338719C>T Locations: - p.Asp95Asn (Ensembl:ENST00000327347) - c.283G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs776217380 | 95 | D>Y | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13338719C>A Codon: GAC/TAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338719C>A Locations: - p.Asp95Tyr (Ensembl:ENST00000327347) - c.283G>T (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs1390899202 | 97 | Y>F | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.508) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.13338712T>A Codon: TAC/TTC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338712T>A Locations: - p.Tyr97Phe (Ensembl:ENST00000327347) - c.290A>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59257900 | 99 | M>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.525) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000010.11:g.13338706A>G Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13338706A>G Locations: - c.296T>C (NCI-TCGA:ENST00000327347) - p.M99T (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1402240125 | 101 | R>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13336345C>G Codon: AGG/AGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336345C>G Locations: - p.Arg101Ser (Ensembl:ENST00000327347) - c.303G>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833633330 | 102 | I>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13336342T>C Codon: ATA/ATG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336342T>C Locations: - p.Ile102Met (Ensembl:ENST00000327347) - c.306A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1474740428 | 103 | A>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.24) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000010.11:g.13336341C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336341C>T Locations: - p.Ala103Thr (Ensembl:ENST00000327347) - c.307G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV100525807 rs752102842 | 103 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.916) - SIFT: deleterious (0.04) - PolyPhen: possibly damaging (0.873) - SIFT: deleterious (0.03) Somatic: Yes Population frequencies: - MAF: 0.000007961 (gnomAD) Accession: NC_000010.11:g.13336340G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336340G>A Locations: - p.A103V (NCI-TCGA:ENST00000327347) - p.Ala103Val (Ensembl:ENST00000327347) - c.308C>T (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs542605530 | 105 | A>V | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.621) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.13336334G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336334G>A Locations: - p.Ala105Val (Ensembl:ENST00000327347) - c.314C>T (Ensembl:ENST00000327347) Source type: large scale study | |||||||
COSV59260785 rs1271689318 | 106 | N>S | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.84) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000010.11:g.13336331T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336331T>C Locations: - p.Asn106Ser (Ensembl:ENST00000327347) - c.317A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
TCGA novel | 108 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.849) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13336326G>A Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336326G>A Locations: - c.322C>T (NCI-TCGA:ENST00000327347) - p.L108F (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1280600680 | 111 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.678) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000010.11:g.13336317G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336317G>C Locations: - p.Leu111Val (Ensembl:ENST00000327347) - c.331C>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59259145 rs1314602706 | 112 | Y>C | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.949) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000010.11:g.13336313T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336313T>C Locations: - p.Tyr112Cys (Ensembl:ENST00000327347) - c.335A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833631976 | 113 | A>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.701) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000010.11:g.13336311C>A Codon: GCA/TCA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336311C>A Locations: - p.Ala113Ser (Ensembl:ENST00000327347) - c.337G>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs2130677306 | 114 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.638) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000010.11:g.13336307A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336307A>G Locations: - p.Met114Thr (Ensembl:ENST00000327347) - c.341T>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs372858494 | 114 | M>V | ESP gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.716) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000010.11:g.13336308T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336308T>C Locations: - p.Met114Val (Ensembl:ENST00000327347) - c.340A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833631633 | 115 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13336304C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336304C>G Locations: - p.Gly115Ala (Ensembl:ENST00000327347) - c.344G>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs200835015 | 117 | T>M | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.764) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000010.11:g.13336298G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336298G>A Locations: - p.Thr117Met (Ensembl:ENST00000327347) - c.350C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs774247442 | 120 | D>E | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.846) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13336288G>T Codon: GAC/GAA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336288G>T Locations: - p.Asp120Glu (Ensembl:ENST00000327347) - c.360C>A (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs1833630563 | 126 | L>F | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.877) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13336272G>A Codon: CTT/TTT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336272G>A Locations: - p.Leu126Phe (Ensembl:ENST00000327347) - c.376C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs773953901 | 126 | L>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13336271A>G Codon: CTT/CCT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336271A>G Locations: - p.Leu126Pro (Ensembl:ENST00000327347) - c.377T>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1308125850 | 128 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000010.11:g.13336266C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336266C>T Locations: - p.Val128Ile (Ensembl:ENST00000327347) - c.382G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs769996817 | 130 | N>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000010.11:g.13336259T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336259T>C Locations: - p.Asn130Ser (Ensembl:ENST00000327347) - c.389A>G (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs746078177 | 131 | K>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.044) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000010.11:g.13336255T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336255T>G Locations: - p.Lys131Asn (Ensembl:ENST00000327347) - c.393A>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
TCGA novel | 131 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.127) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000010.11:g.13336256T>G Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336256T>G Locations: - c.392A>C (NCI-TCGA:ENST00000327347) - p.K131T (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV59260810 | 133 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.019) - SIFT: tolerated (0.1) Somatic: Yes Accession: NC_000010.11:g.13336251T>C Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336251T>C Locations: - c.397A>G (NCI-TCGA:ENST00000327347) - p.T133A (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59259782 rs1468296697 | 134 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.025) - SIFT: deleterious (0.02) - PolyPhen: benign (0.015) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000010.11:g.13336248C>T Codon: GAC/AAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13336248C>T Locations: - p.D134N (NCI-TCGA:ENST00000327347) - p.Asp134Asn (Ensembl:ENST00000327347) - c.400G>A (Ensembl:ENST00000327347) Source type: large scale study | |||||||
COSV59259241 | 137 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.812) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000010.11:g.13333967C>T Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333967C>T Locations: - c.410G>A (NCI-TCGA:ENST00000327347) - p.R137K (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833547817 | 137 | R>M | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.954) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.13333967C>A Codon: AGG/ATG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333967C>A Locations: - p.Arg137Met (Ensembl:ENST00000327347) - c.410G>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs966970698 | 141 | M>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.031) - SIFT: tolerated (0.46) Somatic: No Accession: NC_000010.11:g.13333956T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333956T>C Locations: - p.Met141Val (Ensembl:ENST00000327347) - c.421A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs747037286 | 142 | P>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.642) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.13333952G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333952G>A Locations: - p.Pro142Leu (Ensembl:ENST00000327347) - c.425C>T (Ensembl:ENST00000327347) Source type: large scale study | |||||||
TCGA novel | 144 | I>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.918) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13333946A>C Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333946A>C Locations: - c.431T>G (NCI-TCGA:ENST00000327347) - p.I144S (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs182887196 | 145 | I>V | 1000Genomes ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.095) - SIFT: tolerated (0.16) Somatic: No Accession: NC_000010.11:g.13333944T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333944T>C Locations: - p.Ile145Val (Ensembl:ENST00000327347) - c.433A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs758874151 | 146 | Q>R | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: tolerated (0.93) Somatic: No Accession: NC_000010.11:g.13333940T>C Codon: CAA/CGA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333940T>C Locations: - p.Gln146Arg (Ensembl:ENST00000327347) - c.437A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs373442320 | 147 | G>A | ESP TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.997) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.13333937C>G Codon: GGT/GCT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333937C>G Locations: - p.Gly147Ala (Ensembl:ENST00000327347) - c.440G>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59258173 | 147 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000010.11:g.13333938C>A Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333938C>A Locations: - c.439G>T (NCI-TCGA:ENST00000327347) - p.G147C (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1379780114 | 150 | D>H | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.943) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13333929C>G Codon: GAC/CAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333929C>G Locations: - p.Asp150His (Ensembl:ENST00000327347) - c.448G>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59260046 rs149225659 | 151 | A>T | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated (0.21) Somatic: Yes Accession: NC_000010.11:g.13333926C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333926C>T Locations: - p.Ala151Thr (Ensembl:ENST00000327347) - c.451G>A (Ensembl:ENST00000327347) Source type: large scale study | |||||||
TCGA novel | 153 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.42) Somatic: No Accession: NC_000010.11:g.13333920C>G Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333920C>G Locations: - c.457G>C (NCI-TCGA:ENST00000327347) - p.E153Q (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs755275432 | 155 | A>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.094) - SIFT: tolerated (0.32) Somatic: No Accession: NC_000010.11:g.13333913G>C Codon: GCA/GGA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333913G>C Locations: - p.Ala155Gly (Ensembl:ENST00000327347) - c.464C>G (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs1833546291 | 155 | A>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.301) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13333914C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333914C>T Locations: - p.Ala155Thr (Ensembl:ENST00000327347) - c.463G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833545958 | 156 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.592) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000010.11:g.13333910C>T Codon: GGA/GAA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333910C>T Locations: - p.Gly156Glu (Ensembl:ENST00000327347) - c.467G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59258057 rs756922006 | 158 | S>F | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.121) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000010.11:g.13333904G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333904G>A Locations: - p.Ser158Phe (Ensembl:ENST00000327347) - c.473C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59257619 COSV59258057 | 158 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.063) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000010.11:g.13333904G>T Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333904G>T Locations: - c.473C>A (NCI-TCGA:ENST00000327347) - p.S158Y (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs150474037 | 159 | V>I | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.037) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000010.11:g.13333902C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333902C>T Locations: - p.Val159Ile (Ensembl:ENST00000327347) - c.475G>A (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs775272148 | 162 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.915) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.13333893C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333893C>T Locations: - p.Gly162Ser (Ensembl:ENST00000327347) - c.484G>A (Ensembl:ENST00000327347) Source type: large scale study | |||||||
COSV59260216 rs1172500826 | 167 | N>T | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.325) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000010.11:g.13333877T>G Codon: AAC/ACC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333877T>G Locations: - p.Asn167Thr (Ensembl:ENST00000327347) - c.500A>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833544266 | 168 | P>S | 1000Genomes TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.13333875G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333875G>A Locations: - p.Pro168Ser (Ensembl:ENST00000327347) - c.502C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
TCGA novel | 169 | W>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.92) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13333870C>A Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333870C>A Locations: - c.507G>T (NCI-TCGA:ENST00000327347) - p.W169C (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1833544188 | 171 | V>I | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (1) Somatic: No Accession: NC_000010.11:g.13333866C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333866C>T Locations: - p.Val171Ile (Ensembl:ENST00000327347) - c.511G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV100525868 COSV100525992 | 172 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.21) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000010.11:g.13333863G>T Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333863G>T Locations: - c.514C>A (NCI-TCGA:ENST00000327347) - p.L172M (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV100526030 | 177 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.233) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000010.11:g.13333848T>C Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333848T>C Locations: - c.529A>G (NCI-TCGA:ENST00000327347) - p.T177A (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs773637313 | 177 | T>N | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.981) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13333847G>T Codon: ACC/AAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333847G>T Locations: - p.Thr177Asn (Ensembl:ENST00000327347) - c.530C>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs773637313 | 177 | T>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.215) - SIFT: tolerated (0.25) Somatic: No Accession: NC_000010.11:g.13333847G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333847G>C Locations: - p.Thr177Ser (Ensembl:ENST00000327347) - c.530C>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs755539311 | 180 | C>G | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13333839A>C Codon: TGC/GGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333839A>C Locations: - p.Cys180Gly (Ensembl:ENST00000327347) - c.538T>G (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs1312818818 | 183 | N>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.21) Somatic: No Accession: NC_000010.11:g.13333829T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333829T>C Locations: - p.Asn183Ser (Ensembl:ENST00000327347) - c.548A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1233717375 | 183 | N>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.13333830T>A Codon: AAT/TAT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333830T>A Locations: - p.Asn183Tyr (Ensembl:ENST00000327347) - c.547A>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59259975 | 184 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: stop gained Somatic: Yes Accession: NC_000010.11:g.13333827C>A Consequence type: stop gained Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333827C>A Locations: - c.550G>T (NCI-TCGA:ENST00000327347) - p.E184* (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59259975 | 184 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.303) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000010.11:g.13333827C>T Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333827C>T Locations: - c.550G>A (NCI-TCGA:ENST00000327347) - p.E184K (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1303388956 | 185 | F>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.024) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000010.11:g.13333824A>G Codon: TTT/CTT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333824A>G Locations: - p.Phe185Leu (Ensembl:ENST00000327347) - c.553T>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833542599 | 185 | F>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000010.11:g.13333823A>T Codon: TTT/TAT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333823A>T Locations: - p.Phe185Tyr (Ensembl:ENST00000327347) - c.554T>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs886332812 | 187 | M>T | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.051) - SIFT: tolerated (0.1) Somatic: No Accession: NC_000010.11:g.13333817A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13333817A>G Locations: - p.Met187Thr (Ensembl:ENST00000327347) - c.560T>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs770128438 | 190 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000010.11:g.13329780T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13329780T>C Locations: - p.Asn190Ser (Ensembl:ENST00000327347) - c.569A>G (Ensembl:ENST00000327347) Source type: large scale study | |||||||
COSV59257147 rs1258469101 | 196 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.689) - SIFT: deleterious (0.01) - PolyPhen: benign (0.385) - SIFT: deleterious (0.02) Somatic: Yes Population frequencies: - MAF: 0.000004131 (gnomAD) Accession: NC_000010.11:g.13329763C>T Codon: GTG/ATG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13329763C>T Locations: - p.V196M (NCI-TCGA:ENST00000327347) - p.Val196Met (Ensembl:ENST00000327347) - c.586G>A (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs1833413084 | 197 | L>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.872) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13329760G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13329760G>C Locations: - p.Leu197Val (Ensembl:ENST00000327347) - c.589C>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59261134 rs1480331383 | 202 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.917) - SIFT: deleterious (0.03) - PolyPhen: possibly damaging (0.795) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.000004112 (gnomAD) Accession: NC_000010.11:g.13329744G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13329744G>A Locations: - p.P202L (NCI-TCGA:ENST00000327347) - p.Pro202Leu (Ensembl:ENST00000327347) - c.605C>T (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs1332506870 | 208 | A>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.283) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.13329726G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13329726G>A Locations: - p.Ala208Val (Ensembl:ENST00000327347) - c.623C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833412520 | 209 | V>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000010.11:g.13329724C>G Codon: GTG/CTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13329724C>G Locations: - p.Val209Leu (Ensembl:ENST00000327347) - c.625G>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833412455 | 210 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.12) Somatic: No Accession: NC_000010.11:g.13329721C>A Codon: GCT/TCT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13329721C>A Locations: - p.Ala210Ser (Ensembl:ENST00000327347) - c.628G>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs778490277 | 211 | V>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.814) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13329717A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13329717A>C Locations: - p.Val211Gly (Ensembl:ENST00000327347) - c.632T>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
TCGA novel | 214 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000010.11:g.13329707C>T Consequence type: stop gained Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13329707C>T Locations: - c.642G>A (NCI-TCGA:ENST00000327347) - p.W214* (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs754602419 | 215 | L>Q | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.983) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13329705A>T Codon: CTG/CAG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13329705A>T Locations: - p.Leu215Gln (Ensembl:ENST00000327347) - c.644T>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833412088 | 216 | D>G | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.02) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.13329702T>C Codon: GAT/GGT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13329702T>C Locations: - p.Asp216Gly (Ensembl:ENST00000327347) - c.647A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs756142199 | 218 | P>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.05) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.13328449G>A Codon: CCT/CTT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328449G>A Locations: - p.Pro218Leu (Ensembl:ENST00000327347) - c.653C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59257823 | 219 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.25) Somatic: Yes Accession: NC_000010.11:g.13328445C>A Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328445C>A Locations: - c.657G>T (NCI-TCGA:ENST00000327347) - p.E219D (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV100526027 | 221 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000010.11:g.13328439C>T Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328439C>T Locations: - c.663G>A (NCI-TCGA:ENST00000327347) - p.W221* (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs925487659 | 222 | N>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000010.11:g.13328437T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328437T>C Locations: - p.Asn222Ser (Ensembl:ENST00000327347) - c.665A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1208158290 | 224 | I>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.04) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000010.11:g.13328432T>C Codon: ATT/GTT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328432T>C Locations: - p.Ile224Val (Ensembl:ENST00000327347) - c.670A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1234611315 | 235 | L>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.52) Somatic: No Accession: NC_000010.11:g.13328399G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328399G>C Locations: - p.Leu235Val (Ensembl:ENST00000327347) - c.703C>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs760357700 | 236 | A>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.761) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13328395G>T Codon: GCC/GAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328395G>T Locations: - p.Ala236Asp (Ensembl:ENST00000327347) - c.707C>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1333276169 | 236 | A>S | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.376) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.13328396C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328396C>A Locations: - p.Ala236Ser (Ensembl:ENST00000327347) - c.706G>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs914061314 | 237 | Y>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.468) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.13328392T>C Codon: TAC/TGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328392T>C Locations: - p.Tyr237Cys (Ensembl:ENST00000327347) - c.710A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs945563730 | 237 | Y>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.98) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13328393A>T Codon: TAC/AAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328393A>T Locations: - p.Tyr237Asn (Ensembl:ENST00000327347) - c.709T>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs757062437 | 240 | A>G | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.372) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.13328383G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328383G>C Locations: - p.Ala240Gly (Ensembl:ENST00000327347) - c.719C>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59259315 rs757062437 | 240 | A>V | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.449) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000010.11:g.13328383G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328383G>A Locations: - p.Ala240Val (Ensembl:ENST00000327347) - c.719C>T (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs986930410 | 242 | M>I | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.39) Somatic: No Accession: NC_000010.11:g.13328376C>G, NC_000010.11:g.13328376C>A Codon: ATG/ATC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328376C>G, NC_000010.11:g.13328376C>A Locations: - p.Met242Ile (Ensembl:ENST00000327347) - c.726G>C (Ensembl:ENST00000327347) - c.726G>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs764345721 | 242 | M>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.68) Somatic: No Accession: NC_000010.11:g.13328378T>G Codon: ATG/CTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328378T>G Locations: - p.Met242Leu (Ensembl:ENST00000327347) - c.724A>C (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs1432999081 | 244 | M>T | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.993) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13328371A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328371A>G Locations: - p.Met244Thr (Ensembl:ENST00000327347) - c.731T>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59259083 rs955621821 | 245 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.3) - SIFT: deleterious (0.01) - PolyPhen: benign (0.123) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000010.11:g.13328368G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328368G>A Locations: - p.A245V (NCI-TCGA:ENST00000327347) - p.Ala245Val (Ensembl:ENST00000327347) - c.734C>T (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs1833367153 | 246 | R>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.971) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.13328364C>A Codon: AGG/AGT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328364C>A Locations: - p.Arg246Ser (Ensembl:ENST00000327347) - c.738G>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1173170590 | 247 | L>P | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13328362A>G Codon: CTC/CCC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328362A>G Locations: - p.Leu247Pro (Ensembl:ENST00000327347) - c.740T>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1371222947 | 248 | N>D | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.979) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13328360T>C Codon: AAC/GAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328360T>C Locations: - p.Asn248Asp (Ensembl:ENST00000327347) - c.742A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
TCGA novel | 250 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000010.11:g.13328354T>C Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13328354T>C Locations: - c.748A>G (NCI-TCGA:ENST00000327347) - p.T250A (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
TCGA novel | 253 | G>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: stop gained Somatic: No Accession: NC_000010.11:g.13323042C>A Consequence type: stop gained Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13323042C>A Locations: - c.757G>T (NCI-TCGA:ENST00000327347) - p.G253* (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs745416609 | 254 | L>F | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.984) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13323039G>A Codon: CTC/TTC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13323039G>A Locations: - p.Leu254Phe (Ensembl:ENST00000327347) - c.760C>T (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs745416609 | 254 | L>V | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.989) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.13323039G>C Codon: CTC/GTC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13323039G>C Locations: - p.Leu254Val (Ensembl:ENST00000327347) - c.760C>G (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs781150779 | 255 | M>T | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.97) - SIFT: deleterious (0.05) Somatic: No Accession: NC_000010.11:g.13323035A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13323035A>G Locations: - p.Met255Thr (Ensembl:ENST00000327347) - c.764T>C (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs1833160608 | 256 | H>Q | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.99) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.13323031G>C Codon: CAC/CAG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13323031G>C Locations: - p.His256Gln (Ensembl:ENST00000327347) - c.768C>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833160676 | 256 | H>R | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.166) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000010.11:g.13323032T>C Codon: CAC/CGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13323032T>C Locations: - p.His256Arg (Ensembl:ENST00000327347) - c.767A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
TCGA novel | 256 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.939) - SIFT: tolerated (0.07) Somatic: No Accession: NC_000010.11:g.13323033G>A Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13323033G>A Locations: - c.766C>T (NCI-TCGA:ENST00000327347) - p.H256Y (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
COSV59259029 rs1194827024 | 257 | T>M | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.617) - SIFT: deleterious (0.02) Somatic: Yes Accession: NC_000010.11:g.13323029G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13323029G>A Locations: - p.Thr257Met (Ensembl:ENST00000327347) - c.770C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs777553816 | 259 | N>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000010.11:g.13323023T>C Codon: AAT/AGT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13323023T>C Locations: - p.Asn259Ser (Ensembl:ENST00000327347) - c.776A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV108167518 rs1162752688 | 260 | A>S | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.867) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000010.11:g.13323021C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13323021C>A Locations: - p.Ala260Ser (Ensembl:ENST00000327347) - c.778G>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1588532667 | 261 | H>P | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13323017T>G Codon: CAC/CCC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13323017T>G Locations: - p.His261Pro (Ensembl:ENST00000327347) - c.782A>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59257294 COSV59259817 | 262 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.921) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000010.11:g.13323015C>T Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13323015C>T Locations: - c.784G>A (NCI-TCGA:ENST00000327347) - p.A262T (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1164623526 | 263 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.956) - SIFT: deleterious (0.01) Somatic: No Population frequencies: - MAF: 0.000003978 (gnomAD) Accession: NC_000010.11:g.13323012C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13323012C>T Locations: - p.A263T (NCI-TCGA:ENST00000327347) - p.Ala263Thr (Ensembl:ENST00000327347) - c.787G>A (Ensembl:ENST00000327347) Source type: large scale study | |||||||
COSV100525942 | 265 | D>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.784) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000010.11:g.13323005T>G Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13323005T>G Locations: - c.794A>C (NCI-TCGA:ENST00000327347) - p.D265A (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1468213474 | 265 | D>G | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.992) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.13323005T>C Codon: GAC/GGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13323005T>C Locations: - p.Asp265Gly (Ensembl:ENST00000327347) - c.794A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1237033461 | 266 | I>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.563) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13323003T>G Codon: ATC/CTC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13323003T>G Locations: - p.Ile266Leu (Ensembl:ENST00000327347) - c.796A>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1237033461 | 266 | I>V | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (1) Somatic: No Accession: NC_000010.11:g.13323003T>C Codon: ATC/GTC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13323003T>C Locations: - p.Ile266Val (Ensembl:ENST00000327347) - c.796A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59259173 | 267 | T>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000010.11:g.13322999G>T Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322999G>T Locations: - c.800C>A (NCI-TCGA:ENST00000327347) - p.T267K (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59259173 rs779155992 | 267 | T>M | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.994) - SIFT: deleterious (0) Somatic: Yes Accession: NC_000010.11:g.13322999G>A Codon: ACG/ATG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322999G>A Locations: - p.Thr267Met (Ensembl:ENST00000327347) - c.800C>T (Ensembl:ENST00000327347) Source type: large scale study | |||||||
TCGA novel | 267-273 | TG>missing | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: inframe deletion Somatic: No Accession: NC_000010.11:g.13322980_13323000del Consequence type: inframe deletion Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322980_13323000del Locations: - c.799_819del (NCI-TCGA:ENST00000327347) - p.T267_G273del (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs370831022 | 269 | F>L | ESP TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.929) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000010.11:g.13322992G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322992G>T Locations: - p.Phe269Leu (Ensembl:ENST00000327347) - c.807C>A (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs2131687413 | 270 | G>E | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13322990C>T Codon: GGG/GAG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322990C>T Locations: - p.Gly270Glu (Ensembl:ENST00000327347) - c.809G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59259699 rs2131687420 | 270 | G>R | cosmic curated Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.995) - SIFT: deleterious (0.03) Somatic: Yes Accession: NC_000010.11:g.13322991C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322991C>T Locations: - p.Gly270Arg (Ensembl:ENST00000327347) - c.808G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs753897686 | 272 | L>S | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13322984A>G Codon: TTG/TCG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322984A>G Locations: - p.Leu272Ser (Ensembl:ENST00000327347) - c.815T>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs753897686 | 272 | L>W | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000010.11:g.13322984A>C Codon: TTG/TGG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322984A>C Locations: - p.Leu272Trp (Ensembl:ENST00000327347) - c.815T>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833159030 | 273 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13322981C>A Codon: GGC/GTC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322981C>A Locations: - p.Gly273Val (Ensembl:ENST00000327347) - c.818G>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833158659 | 275 | A>G | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.965) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13322975G>C Codon: GCG/GGG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322975G>C Locations: - p.Ala275Gly (Ensembl:ENST00000327347) - c.824C>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1300226752 | 275 | A>T | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.788) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13322976C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322976C>T Locations: - p.Ala275Thr (Ensembl:ENST00000327347) - c.823G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV100525944 rs1833158659 | 275 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.982) - SIFT: deleterious (0) - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000010.11:g.13322975G>A Codon: GCG/GTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322975G>A Locations: - p.A275V (NCI-TCGA:ENST00000327347) - p.Ala275Val (Ensembl:ENST00000327347) - c.824C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs762321273 | 277 | N>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.549) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.13322969T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322969T>C Locations: - p.Asn277Ser (Ensembl:ENST00000327347) - c.830A>G (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs1259633467 | 280 | K>R | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.011) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000010.11:g.13322960T>C Codon: AAG/AGG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322960T>C Locations: - p.Lys280Arg (Ensembl:ENST00000327347) - c.839A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs769368773 | 281 | Q>R | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.018) - SIFT: tolerated (0.19) Somatic: No Accession: NC_000010.11:g.13322957T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322957T>C Locations: - p.Gln281Arg (Ensembl:ENST00000327347) - c.842A>G (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs759043625 | 284 | N>K | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.013) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000010.11:g.13322947G>C Codon: AAC/AAG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322947G>C Locations: - p.Asn284Lys (Ensembl:ENST00000327347) - c.852C>G (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs767360719 | 284 | N>S | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: tolerated (0.13) Somatic: No Accession: NC_000010.11:g.13322948T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322948T>C Locations: - p.Asn284Ser (Ensembl:ENST00000327347) - c.851A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1474459084 | 284 | N>Y | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.888) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13322949T>A Codon: AAC/TAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322949T>A Locations: - p.Asn284Tyr (Ensembl:ENST00000327347) - c.850A>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs373971793 | 285 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.023) - SIFT: tolerated (0.23) - PolyPhen: benign (0.014) - SIFT: tolerated (0.06) Somatic: No Population frequencies: - MAF: 0.000007957 (gnomAD) Accession: NC_000010.11:g.13322946C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322946C>T Locations: - p.E285K (NCI-TCGA:ENST00000327347) - p.Glu285Lys (Ensembl:ENST00000327347) - c.853G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV100525982 rs151205320 | 287 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.505) - SIFT: tolerated (0.11) - PolyPhen: benign (0.251) - SIFT: deleterious (0.01) Somatic: Yes Population frequencies: - MAF: 0.000007957 (gnomAD) Accession: NC_000010.11:g.13322939G>A Codon: TCG/TTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322939G>A Locations: - p.S287L (NCI-TCGA:ENST00000327347) - p.Ser287Leu (Ensembl:ENST00000327347) - c.860C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833157486 | 288 | F>C | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13322936A>C Codon: TTT/TGT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322936A>C Locations: - p.Phe288Cys (Ensembl:ENST00000327347) - c.863T>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833157336 | 289 | V>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.075) - SIFT: tolerated (0.08) Somatic: No Accession: NC_000010.11:g.13322934C>T Codon: GTA/ATA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322934C>T Locations: - p.Val289Ile (Ensembl:ENST00000327347) - c.865G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs2131687185 | 294 | P>L | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.986) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.13322918G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322918G>A Locations: - p.Pro294Leu (Ensembl:ENST00000327347) - c.881C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
TCGA novel | 296 | L>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.514) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.13322913G>T Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322913G>T Locations: - c.886C>A (NCI-TCGA:ENST00000327347) - p.L296M (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs148657465 | 296 | L>V | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.13322913G>C Codon: CTG/GTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322913G>C Locations: - p.Leu296Val (Ensembl:ENST00000327347) - c.886C>G (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs1361407515 | 309 | M>I | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.069) - SIFT: tolerated (0.2) Somatic: No Accession: NC_000010.11:g.13322872C>A Codon: ATG/ATT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322872C>A Locations: - p.Met309Ile (Ensembl:ENST00000327347) - c.927G>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1217496940 | 309 | M>L | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000010.11:g.13322874T>A Codon: ATG/TTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322874T>A Locations: - p.Met309Leu (Ensembl:ENST00000327347) - c.925A>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs375854945 | 309 | M>T | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: tolerated (0.31) Somatic: No Accession: NC_000010.11:g.13322873A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322873A>G Locations: - p.Met309Thr (Ensembl:ENST00000327347) - c.926T>C (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs762235072 | 310 | F>L | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.084) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.13322869G>T Codon: TTC/TTA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322869G>T Locations: - p.Phe310Leu (Ensembl:ENST00000327347) - c.930C>A (Ensembl:ENST00000327347) Source type: large scale study | |||||||
COSV59261304 rs144150402 | 311 | G>S | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.027) - SIFT: tolerated (0.09) Somatic: Yes Accession: NC_000010.11:g.13322868C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322868C>T Locations: - p.Gly311Ser (Ensembl:ENST00000327347) - c.931G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
TCGA novel | 312 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.998) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13322865G>C Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322865G>C Locations: - c.934C>G (NCI-TCGA:ENST00000327347) - p.L312V (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs764888887 | 313 | M>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.135) - SIFT: tolerated (0.11) Somatic: No Accession: NC_000010.11:g.13322861A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322861A>G Locations: - p.Met313Thr (Ensembl:ENST00000327347) - c.938T>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV105233905 rs1368139587 | 313 | M>V | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.074) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000010.11:g.13322862T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322862T>C Locations: - p.Met313Val (Ensembl:ENST00000327347) - c.937A>G (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs1381714018 | 314 | H>Y | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.039) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13322859G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322859G>A Locations: - p.His314Tyr (Ensembl:ENST00000327347) - c.940C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs892589418 | 315 | G>A | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13322855C>G Codon: GGG/GCG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322855C>G Locations: - p.Gly315Ala (Ensembl:ENST00000327347) - c.944G>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs776415520 | 316 | T>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.098) - SIFT: tolerated (0.34) Somatic: No Accession: NC_000010.11:g.13322852G>C Codon: ACC/AGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322852G>C Locations: - p.Thr316Ser (Ensembl:ENST00000327347) - c.947C>G (Ensembl:ENST00000327347) Source type: large scale study | |||||||
COSV100525700 rs1298410502 rs1298410502,COSV100525700 | 318 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.251) - SIFT: tolerated (0.1) - PolyPhen: possibly damaging (0.873) - SIFT: deleterious (0.02) Somatic: Yes Population frequencies: - MAF: 0.000003992 (gnomAD) Accession: NC_000010.11:g.13322846G>A Codon: CCG/CTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322846G>A Locations: - p.P318L (NCI-TCGA:ENST00000327347) - p.Pro318Leu (Ensembl:ENST00000327347) - c.953C>T (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs760228317 | 320 | T>I | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.972) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000010.11:g.13322840G>A Codon: ACT/ATT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322840G>A Locations: - p.Thr320Ile (Ensembl:ENST00000327347) - c.959C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1174666851 | 321 | S>* | gnomAD | ||||
Consequence: stop gained Somatic: No Accession: NC_000010.11:g.13322837G>T Codon: TCA/TAA Consequence type: stop gained Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13322837G>T Locations: - p.Ser321Ter (Ensembl:ENST00000327347) - c.962C>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1272344983 | 323 | G>C | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13319354C>A Codon: GGC/TGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319354C>A Locations: - p.Gly323Cys (Ensembl:ENST00000327347) - c.967G>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1272344983 | 323 | G>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (1) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.13319354C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319354C>T Locations: - p.Gly323Ser (Ensembl:ENST00000327347) - c.967G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59259297 rs1833032660 | 330 | R>H | cosmic curated TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.673) - SIFT: tolerated (0.05) Somatic: Yes Accession: NC_000010.11:g.13319332C>T Codon: CGT/CAT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319332C>T Locations: - p.Arg330His (Ensembl:ENST00000327347) - c.989G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV100526049 COSV59259099 | 331 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.682) - SIFT: tolerated (0.06) Somatic: Yes Accession: NC_000010.11:g.13319330C>T Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319330C>T Locations: - c.991G>A (NCI-TCGA:ENST00000327347) - p.E331K (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1293236433 | 335 | R>Q | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.082) - SIFT: tolerated (0.33) Somatic: No Accession: NC_000010.11:g.13319317C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319317C>T Locations: - p.Arg335Gln (Ensembl:ENST00000327347) - c.1004G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1389025702 | 335 | R>W | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.109) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.13319318G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319318G>A Locations: - p.Arg335Trp (Ensembl:ENST00000327347) - c.1003C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
TCGA novel | 337 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13319311C>T Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319311C>T Locations: - c.1010G>A (NCI-TCGA:ENST00000327347) - p.C337Y (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1047516977 | 339 | E>D | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.043) - SIFT: tolerated (0.26) Somatic: No Accession: NC_000010.11:g.13319304C>A Codon: GAG/GAT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319304C>A Locations: - p.Glu339Asp (Ensembl:ENST00000327347) - c.1017G>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59257243 COSV59260027 | 339 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.892) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000010.11:g.13319306C>T Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319306C>T Locations: - c.1015G>A (NCI-TCGA:ENST00000327347) - p.E339K (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59257243 COSV59260027 | 339 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.938) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000010.11:g.13319306C>G Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319306C>G Locations: - c.1015G>C (NCI-TCGA:ENST00000327347) - p.E339Q (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs765968705 | 340 | I>L | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.028) - SIFT: tolerated (0.23) Somatic: No Accession: NC_000010.11:g.13319303T>A Codon: ATA/TTA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319303T>A Locations: - p.Ile340Leu (Ensembl:ENST00000327347) - c.1018A>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs755779249 | 340 | I>T | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.985) - SIFT: deleterious (0.01) Somatic: No Accession: NC_000010.11:g.13319302A>G Codon: ATA/ACA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319302A>G Locations: - p.Ile340Thr (Ensembl:ENST00000327347) - c.1019T>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs749867055 | 343 | P>H | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.375) - SIFT: tolerated (0.53) Somatic: No Accession: NC_000010.11:g.13319293G>T Codon: CCC/CAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319293G>T Locations: - p.Pro343His (Ensembl:ENST00000327347) - c.1028C>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs190470029 | 345 | Y>C | 1000Genomes | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.914) - SIFT: deleterious - low confidence (0.01) Somatic: No Accession: NC_000010.11:g.13319287T>C Codon: TAT/TGT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319287T>C Locations: - p.Tyr345Cys (Ensembl:ENST00000327347) - c.1034A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV100526058 | 345 | Y>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.522) - SIFT: tolerated (0.25) Somatic: Yes Accession: NC_000010.11:g.13319288A>T Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319288A>T Locations: - c.1033T>A (NCI-TCGA:ENST00000327347) - p.Y345N (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs761370935 | 348 | G>S | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.659) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000010.11:g.13319279C>T Codon: GGC/AGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319279C>T Locations: - p.Gly348Ser (Ensembl:ENST00000327347) - c.1042G>A (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs2131679194 | 349 | H>Y | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.017) - SIFT: tolerated (0.56) Somatic: No Accession: NC_000010.11:g.13319276G>A Codon: CAC/TAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319276G>A Locations: - p.His349Tyr (Ensembl:ENST00000327347) - c.1045C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833031353 | 351 | A>P | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.987) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13319270C>G Codon: GCA/CCA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319270C>G Locations: - p.Ala351Pro (Ensembl:ENST00000327347) - c.1051G>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1299613623 | 359 | K>N | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.123) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000010.11:g.13319244C>G Codon: AAG/AAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319244C>G Locations: - p.Lys359Asn (Ensembl:ENST00000327347) - c.1077G>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1802843 | 361 | N>K | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.014) - SIFT: tolerated (0.06) Somatic: No Accession: NC_000010.11:g.13319238G>T Codon: AAC/AAA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319238G>T Locations: - p.Asn361Lys (Ensembl:ENST00000327347) - c.1083C>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs141674998 | 361 | N>S | ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.007) - SIFT: tolerated (0.17) Somatic: No Accession: NC_000010.11:g.13319239T>C Codon: AAC/AGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319239T>C Locations: - p.Asn361Ser (Ensembl:ENST00000327347) - c.1082A>G (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs555055285 | 362 | R>C | 1000Genomes ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: probably damaging (0.999) - SIFT: deleterious (0.03) Somatic: No Accession: NC_000010.11:g.13319237G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319237G>A Locations: - p.Arg362Cys (Ensembl:ENST00000327347) - c.1084C>T (Ensembl:ENST00000327347) Source type: large scale study | |||||||
COSV59257665 rs1833030490 | 362 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Predictions: - PolyPhen: benign (0.124) - SIFT: deleterious (0.02) - PolyPhen: benign (0.412) - SIFT: deleterious (0.04) Somatic: Yes Accession: NC_000010.11:g.13319236C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319236C>T Locations: - p.R362H (NCI-TCGA:ENST00000327347) - p.Arg362His (Ensembl:ENST00000327347) - c.1085G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1282359571 | 363 | T>I | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.57) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.13319233G>A Codon: ACA/ATA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319233G>A Locations: - p.Thr363Ile (Ensembl:ENST00000327347) - c.1088C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
TCGA novel | 364 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.888) - SIFT: deleterious (0.04) Somatic: No Accession: NC_000010.11:g.13319231C>A Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319231C>A Locations: - c.1090G>T (NCI-TCGA:ENST00000327347) - p.A364S (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1588529302 | 369 | K>N | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.029) - SIFT: tolerated (0.14) Somatic: No Accession: NC_000010.11:g.13319214T>G Codon: AAA/AAC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319214T>G Locations: - p.Lys369Asn (Ensembl:ENST00000327347) - c.1107A>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
RCV002260709 rs2131679103 | 371 | R>G | Likely pathogenic (ClinVar) | ClinVar Ensembl dbSNP | |||
Consequence: missense Predictions: - PolyPhen: benign (0.166) - SIFT: deleterious (0.02) Somatic: No Accession: NC_000010.11:g.13319210G>C Codon: CGG/GGG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319210G>C Locations: - p.Arg371Gly (Ensembl:ENST00000327347) - c.1111C>G (Ensembl:ENST00000327347) Source type: large scale study | |||||||
COSV100526011 rs1833029885 | 371 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | |||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: tolerated (0.11) - PolyPhen: benign (0.029) - SIFT: tolerated (0.08) Somatic: Yes Accession: NC_000010.11:g.13319209C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319209C>T Locations: - p.R371Q (NCI-TCGA:ENST00000327347) - p.Arg371Gln (Ensembl:ENST00000327347) - c.1112G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59260272 rs1215326914 | 374 | E>K | cosmic curated gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.837) - SIFT: deleterious (0.01) Somatic: Yes Accession: NC_000010.11:g.13319201C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319201C>T Locations: - p.Glu374Lys (Ensembl:ENST00000327347) - c.1120G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59258988 rs777054688 | 376 | A>T | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.37) Somatic: Yes Accession: NC_000010.11:g.13319195C>T Codon: GCA/ACA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319195C>T Locations: - p.Ala376Thr (Ensembl:ENST00000327347) - c.1126G>A (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs771117192 | 376 | A>V | ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.009) - SIFT: tolerated (0.15) Somatic: No Accession: NC_000010.11:g.13319194G>A Codon: GCA/GTA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319194G>A Locations: - p.Ala376Val (Ensembl:ENST00000327347) - c.1127C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs960274224 | 377 | P>R | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.511) - SIFT: deleterious (0) Somatic: No Accession: NC_000010.11:g.13319191G>C Codon: CCA/CGA Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319191G>C Locations: - p.Pro377Arg (Ensembl:ENST00000327347) - c.1130C>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1833029001 | 379 | V>G | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated (0.57) Somatic: No Accession: NC_000010.11:g.13319185A>C Codon: GTG/GGG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319185A>C Locations: - p.Val379Gly (Ensembl:ENST00000327347) - c.1136T>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1387669773 | 380 | A>S | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.012) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000010.11:g.13319183C>A Codon: GCC/TCC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319183C>A Locations: - p.Ala380Ser (Ensembl:ENST00000327347) - c.1138G>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV100525789 | 380 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.077) - SIFT: deleterious - low confidence (0.03) Somatic: Yes Accession: NC_000010.11:g.13319182G>A Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319182G>A Locations: - c.1139C>T (NCI-TCGA:ENST00000327347) - p.A380V (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1347665387 | 381 | T>A | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.001) - SIFT: tolerated - low confidence (0.11) Somatic: No Accession: NC_000010.11:g.13319180T>C Codon: ACT/GCT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319180T>C Locations: - p.Thr381Ala (Ensembl:ENST00000327347) - c.1141A>G (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs778103191 | 385 | N>H | ExAC TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.02) Somatic: No Accession: NC_000010.11:g.13319168T>G Codon: AAT/CAT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319168T>G Locations: - p.Asn385His (Ensembl:ENST00000327347) - c.1153A>C (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs1463885235 | 385 | N>T | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.022) - SIFT: tolerated - low confidence (0.05) Somatic: No Accession: NC_000010.11:g.13319167T>G Codon: AAT/ACT Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319167T>G Locations: - p.Asn385Thr (Ensembl:ENST00000327347) - c.1154A>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59258680 | 386 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: tolerated - low confidence (0.15) Somatic: Yes Accession: NC_000010.11:g.13319165G>A Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319165G>A Locations: - c.1156C>T (NCI-TCGA:ENST00000327347) - p.P386S (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1419246556 | 388 | P>L | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.003) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000010.11:g.13319158G>A Codon: CCC/CTC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319158G>A Locations: - p.Pro388Leu (Ensembl:ENST00000327347) - c.1163C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1367263388 | 388 | P>S | TOPMed | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: tolerated - low confidence (0.09) Somatic: No Accession: NC_000010.11:g.13319159G>A Codon: CCC/TCC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319159G>A Locations: - p.Pro388Ser (Ensembl:ENST00000327347) - c.1162C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV59259417 rs772657582 | 389 | G>R | cosmic curated ExAC gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.015) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000010.11:g.13319156C>T Codon: GGG/AGG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319156C>T Locations: - p.Gly389Arg (Ensembl:ENST00000327347) - c.1165G>A (Ensembl:ENST00000327347) Source type: large scale study | |||||||
rs1464499565 | 389 | G>V | gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.005) - SIFT: deleterious - low confidence (0) Somatic: No Accession: NC_000010.11:g.13319155C>A Codon: GGG/GTG Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319155C>A Locations: - p.Gly389Val (Ensembl:ENST00000327347) - c.1166G>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
rs1387249288 | 390 | A>P | TOPMed gnomAD | ||||
Consequence: missense Predictions: - PolyPhen: benign (0) - SIFT: deleterious - low confidence (0.03) Somatic: No Accession: NC_000010.11:g.13319153C>G Codon: GCC/CCC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319153C>G Locations: - p.Ala390Pro (Ensembl:ENST00000327347) - c.1168G>C (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
TCGA novel | 390 | A>P | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | |||
Consequence: frameshift Somatic: No Accession: NC_000010.11:g.13319153del Consequence type: frameshift Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319153del Locations: - c.1168del (NCI-TCGA:ENST00000327347) - p.A390Pfs*41 (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: - NCI-TCGA: TCGA novel | |||||||
rs1833027529 | 390 | A>V | Ensembl | ||||
Consequence: missense Predictions: - PolyPhen: benign (0.033) - SIFT: tolerated - low confidence (0.08) Somatic: No Accession: NC_000010.11:g.13319152G>A Codon: GCC/GTC Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319152G>A Locations: - p.Ala390Val (Ensembl:ENST00000327347) - c.1169C>T (Ensembl:ENST00000327347) Source type: large scale study Cross-references: | |||||||
COSV100525653 | 392 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Predictions: - PolyPhen: possibly damaging (0.485) - SIFT: deleterious - low confidence (0) Somatic: Yes Accession: NC_000010.11:g.13319146G>A Consequence type: missense Cytogenetic band: 10p13 Genomic location: NC_000010.11:g.13319146G>A Locations: - c.1175C>T (NCI-TCGA:ENST00000327347) - p.S392F (NCI-TCGA:ENST00000327347) Source type: large scale study Cross-references: |