H3BRG0 · H3BRG0_HUMAN
- ProteinTransmembrane protein 87A
- GeneTMEM87A
- StatusUniProtKB unreviewed (TrEMBL)
- Organism
- Amino acids
- Protein existencePredicted
- Annotation score1/5
Variants
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | ||
---|---|---|---|---|---|---|---|
COSV56198182 | 9 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42268030C>G Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42268030C>G Locations: - p.D9H (NCI-TCGA:ENST00000448392) - p.Asp9His (cosmic curated:ENST00000448392) - c.25G>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV56198971 | 14 | D>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42268015C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42268015C>T Locations: - p.Asp14Asn (cosmic curated:ENST00000448392) - c.40G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV56197764 | 14 | D>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42268015C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42268015C>A Locations: - p.Asp14Tyr (cosmic curated:ENST00000448392) - c.40G>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV56197688 rs374342321 | 19 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000003985 (gnomAD) Accession: NC_000015.10:g.42268000T>C Codon: ATA/GTA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42268000T>C Locations: - p.I19V (NCI-TCGA:ENST00000448392) - p.Ile19Val (cosmic curated:ENST00000448392) - c.55A>G (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV56198475 | 24 | K>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42267984T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42267984T>A Locations: - p.Lys24Ile (cosmic curated:ENST00000448392) - c.71A>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV56199153 | 31 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42267964C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42267964C>T Locations: - p.Glu31Lys (cosmic curated:ENST00000448392) - c.91G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV56197378 | 37 | A>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42264203C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42264203C>T Locations: - p.Ala37Thr (cosmic curated:ENST00000448392) - c.109G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV56198618 | 39 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42264197C>T Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42264197C>T Locations: - p.E39K (NCI-TCGA:ENST00000448392) - p.Glu39Lys (cosmic curated:ENST00000448392) - c.115G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV56199250 | 41 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42264191C>G Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42264191C>G Locations: - p.E41Q (NCI-TCGA:ENST00000448392) - p.Glu41Gln (cosmic curated:ENST00000448392) - c.121G>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV56197650 | 42 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42264186C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42264186C>G Locations: - p.Leu42Phe (cosmic curated:ENST00000448392) - c.126G>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV56197291 rs1276332156 | 42 | L>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42264187A>C Codon: TTG/TGG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42264187A>C Locations: - p.L42W (NCI-TCGA:ENST00000448392) - p.Leu42Trp (cosmic curated:ENST00000448392) - c.125T>G (cosmic curated:ENST00000448392) Source type: large scale study | |||||||
COSV100213215 | 43 | Y>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42264184T>A Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42264184T>A Locations: - p.Y43F (NCI-TCGA:ENST00000448392) - p.Tyr43Phe (cosmic curated:ENST00000448392) - c.128A>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV56198988 | 49 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42264167C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42264167C>T Locations: - p.Glu49Lys (cosmic curated:ENST00000448392) - c.145G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV107313980 rs755936960 | 53 | L>F | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42264153C>A Codon: TTG/TTT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42264153C>A Locations: - p.Leu53Phe (cosmic curated:ENST00000448392) - c.159G>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV56199130 | 54 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42264151G>T Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42264151G>T Locations: - p.S54Y (NCI-TCGA:ENST00000448392) - p.Ser54Tyr (cosmic curated:ENST00000448392) - c.161C>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV108136670 | 69 | E>D | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42264105T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42264105T>G Locations: - p.Glu69Asp (cosmic curated:ENST00000448392) - c.207A>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV56198363 | 77 | S>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42261242G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42261242G>C Locations: - p.Ser77Cys (cosmic curated:ENST00000448392) - c.230C>G (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV56198407 rs773068113 | 77 | S>F | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42261242G>A Codon: TCT/TTT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42261242G>A Locations: - p.Ser77Phe (cosmic curated:ENST00000448392) - c.230C>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV100213325 | 78 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42261239C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42261239C>A Locations: - p.Gly78Val (cosmic curated:ENST00000448392) - c.233G>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV100213141 | 79 | D>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42261236T>A Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42261236T>A Locations: - p.D79V (NCI-TCGA:ENST00000448392) - p.Asp79Val (cosmic curated:ENST00000448392) - c.236A>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV56199396 | 85 | P>T | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42261219G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42261219G>T Locations: - p.Pro85Thr (cosmic curated:ENST00000448392) - c.253C>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV100213180 | 88 | G>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42261209C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42261209C>A Locations: - p.Gly88Val (cosmic curated:ENST00000448392) - c.263G>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV100213232 | 92 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42261196C>A Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42261196C>A Locations: - p.E92D (NCI-TCGA:ENST00000448392) - p.Glu92Asp (cosmic curated:ENST00000448392) - c.276G>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV56198040 rs762448864 | 94 | K>T | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42260998T>G Codon: AAG/ACG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42260998T>G Locations: - p.Lys94Thr (cosmic curated:ENST00000448392) - c.281A>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV56197402 | 101 | T>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42260977G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42260977G>T Locations: - p.Thr101Asn (cosmic curated:ENST00000448392) - c.302C>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV101100252 rs145141787 | 109 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.00004546 (gnomAD) Accession: NC_000015.10:g.42244164T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42244164T>C Locations: - p.M109V (NCI-TCGA:ENST00000448392) - p.Met109Val (cosmic curated:ENST00000448392) - c.325A>G (cosmic curated:ENST00000448392) Source type: large scale study | |||||||
COSV67747972 | 118 | D>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42244137C>G Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42244137C>G Locations: - p.D118H (NCI-TCGA:ENST00000448392) - p.Asp118His (cosmic curated:ENST00000448392) - c.352G>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746515 | 125 | V>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42244116C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42244116C>T Locations: - p.Val125Ile (cosmic curated:ENST00000448392) - c.373G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746780 | 130 | S>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42244100G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42244100G>A Locations: - p.Ser130Leu (cosmic curated:ENST00000448392) - c.389C>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746974 | 131 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42244098A>G Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42244098A>G Locations: - p.S131P (NCI-TCGA:ENST00000448392) - p.Ser131Pro (cosmic curated:ENST00000448392) - c.391T>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747658 | 131 | S>Y | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42244097G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42244097G>T Locations: - p.Ser131Tyr (cosmic curated:ENST00000448392) - c.392C>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV108239393 | 136 | S>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42244082G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42244082G>C Locations: - p.Ser136Ter (cosmic curated:ENST00000448392) - c.407C>G (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746575 | 142 | S>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42244065-42244066>A Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42244065-42244066>A Locations: - p.Ser142Ter (cosmic curated:ENST00000448392) - c.423_424insT (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746776 | 152 | K>N | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42239715C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42239715C>A Locations: - p.Lys152Asn (cosmic curated:ENST00000448392) - c.456G>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746420 | 159 | T>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42239695G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42239695G>T Locations: - p.Thr159Lys (cosmic curated:ENST00000448392) - c.476C>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747595 | 161 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42239690C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42239690C>A Locations: - p.Glu161Ter (cosmic curated:ENST00000448392) - c.481G>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67748091 | 164 | P>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42239679-42239680GG>TT Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42239679-42239680GG>TT Locations: - p.Pro164Gln (cosmic curated:ENST00000448392) - c.491_492delinsAA (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747903 | 166 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42239673C>T Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42239673C>T Locations: - p.M166I (NCI-TCGA:ENST00000448392) - p.Met166Ile (cosmic curated:ENST00000448392) - c.498G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747742 | 191 | W>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42237544C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42237544C>T Locations: - p.Trp191Ter (cosmic curated:ENST00000448392) - c.573G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV105933814 | 193 | D>A | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42237539T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42237539T>G Locations: - p.Asp193Ala (cosmic curated:ENST00000448392) - c.578A>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746274 rs1294961035 | 196 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42237530C>A Codon: AGA/ATA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42237530C>A Locations: - p.R196I (NCI-TCGA:ENST00000448392) - p.Arg196Ile (cosmic curated:ENST00000448392) - c.587G>T (cosmic curated:ENST00000448392) Source type: large scale study | |||||||
COSV67747789 rs1265557096 | 198 | Q>R | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42237524T>C Codon: CAG/CGG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42237524T>C Locations: - p.Gln198Arg (cosmic curated:ENST00000448392) - c.593A>G (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67748061 | 200 | W>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42237518C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42237518C>T Locations: - p.Trp200Ter (cosmic curated:ENST00000448392) - c.599G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67748138 | 205 | I>M | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42237502G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42237502G>C Locations: - p.Ile205Met (cosmic curated:ENST00000448392) - c.615C>G (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV101100500 | 208 | G>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42237495C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42237495C>A Locations: - p.Gly208Ter (cosmic curated:ENST00000448392) - c.622G>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746325 | 211 | E>K | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42237486C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42237486C>T Locations: - p.Glu211Lys (cosmic curated:ENST00000448392) - c.631G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746325 COSV67747277 | 211 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42237486C>G Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42237486C>G Locations: - p.E211Q (NCI-TCGA:ENST00000448392) - p.Glu211Gln (cosmic curated:ENST00000448392) - c.631G>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746271 | 216 | Y>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42237470T>A Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42237470T>A Locations: - p.Y216F (NCI-TCGA:ENST00000448392) - p.Tyr216Phe (cosmic curated:ENST00000448392) - c.647A>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746697 rs377564643 | 217 | A>T | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42237468C>T Codon: GCG/ACG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42237468C>T Locations: - p.Ala217Thr (cosmic curated:ENST00000448392) - c.649G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746714 | 220 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42237458T>C Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42237458T>C Locations: - p.Q220R (NCI-TCGA:ENST00000448392) - p.Gln220Arg (cosmic curated:ENST00000448392) - c.659A>G (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746955 rs2050790325 | 223 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42237450G>A Codon: CGA/TGA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42237450G>A Locations: - p.R223* (NCI-TCGA:ENST00000448392) - p.Arg223Ter (cosmic curated:ENST00000448392) - c.667C>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746891 rs759547423 | 223 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.0001077 (gnomAD) Accession: NC_000015.10:g.42237449C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42237449C>T Locations: - p.R223Q (NCI-TCGA:ENST00000448392) - p.Arg223Gln (cosmic curated:ENST00000448392) - c.668G>A (cosmic curated:ENST00000448392) Source type: large scale study | |||||||
COSV67746750 | 226 | G>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42237441C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42237441C>A Locations: - p.Gly226Ter (cosmic curated:ENST00000448392) - c.676G>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746856 | 240 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42236386G>A Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42236386G>A Locations: - p.S240L (NCI-TCGA:ENST00000448392) - p.Ser240Leu (cosmic curated:ENST00000448392) - c.719C>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747189 rs749148379 | 244 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000007955 (gnomAD) Accession: NC_000015.10:g.42236375G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42236375G>A Locations: - p.R244C (NCI-TCGA:ENST00000448392) - p.Arg244Cys (cosmic curated:ENST00000448392) - c.730C>T (cosmic curated:ENST00000448392) Source type: large scale study | |||||||
COSV67746475 rs758575589 | 248 | R>Q | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42236362C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42236362C>T Locations: - p.Arg248Gln (cosmic curated:ENST00000448392) - c.743G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746507 | 258 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42236332T>C Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42236332T>C Locations: - p.Y258C (NCI-TCGA:ENST00000448392) - p.Tyr258Cys (cosmic curated:ENST00000448392) - c.773A>G (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV106554657 rs145034313 | 261 | V>I | cosmic curated ESP ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42236324C>T Codon: GTC/ATC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42236324C>T Locations: - p.Val261Ile (cosmic curated:ENST00000448392) - c.781G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746168 rs1263053146 | 264 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42233302G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42233302G>A Locations: - p.R264C (NCI-TCGA:ENST00000448392) - p.Arg264Cys (cosmic curated:ENST00000448392) - c.790C>T (cosmic curated:ENST00000448392) Source type: large scale study | |||||||
COSV101100610 | 275 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42233269C>T Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42233269C>T Locations: - p.A275T (NCI-TCGA:ENST00000448392) - p.Ala275Thr (cosmic curated:ENST00000448392) - c.823G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747999 | 280 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42233254G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42233254G>A Locations: - p.Leu280Phe (cosmic curated:ENST00000448392) - c.838C>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747517 COSV67747999 | 280 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42233254G>T Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42233254G>T Locations: - p.L280I (NCI-TCGA:ENST00000448392) - p.Leu280Ile (cosmic curated:ENST00000448392) - c.838C>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747719 | 282 | F>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42233246G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42233246G>T Locations: - p.Phe282Leu (cosmic curated:ENST00000448392) - c.846C>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV107502915 | 287 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42233233C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42233233C>T Locations: - p.Gly287Arg (cosmic curated:ENST00000448392) - c.859G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV101100323 | 289 | L>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42233227G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42233227G>T Locations: - p.Leu289Ile (cosmic curated:ENST00000448392) - c.865C>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746279 | 294 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42231259G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42231259G>A Locations: - p.Ala294Val (cosmic curated:ENST00000448392) - c.881C>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV104433073 rs748438767 | 298 | L>I | cosmic curated ExAC gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42231248G>T Codon: CTT/ATT Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42231248G>T Locations: - p.Leu298Ile (cosmic curated:ENST00000448392) - c.892C>A (cosmic curated:ENST00000448392) Source type: large scale study | |||||||
COSV101100573 rs1022489643 | 300 | S>F | cosmic curated TOPMed | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42231241G>A Codon: TCC/TTC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42231241G>A Locations: - p.Ser300Phe (cosmic curated:ENST00000448392) - c.899C>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746834 | 305 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42231227G>A Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42231227G>A Locations: - p.P305S (NCI-TCGA:ENST00000448392) - p.Pro305Ser (cosmic curated:ENST00000448392) - c.913C>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV101100486 | 312 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42231206C>A Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42231206C>A Locations: - p.A312S (NCI-TCGA:ENST00000448392) - p.Ala312Ser (cosmic curated:ENST00000448392) - c.934G>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747884 | 320 | S>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42228809G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42228809G>T Locations: - p.Ser320Arg (cosmic curated:ENST00000448392) - c.960C>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746360 | 329 | K>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42228784T>G Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42228784T>G Locations: - p.K329Q (NCI-TCGA:ENST00000448392) - p.Lys329Gln (cosmic curated:ENST00000448392) - c.985A>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV107502834 | 331 | R>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42228777C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42228777C>T Locations: - p.Arg331Gln (cosmic curated:ENST00000448392) - c.992G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747995 rs1026075938 | 331 | R>W | cosmic curated Ensembl | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42228778G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42228778G>A Locations: - p.Arg331Trp (cosmic curated:ENST00000448392) - c.991C>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746305 | 334 | I>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42228768A>G Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42228768A>G Locations: - p.I334T (NCI-TCGA:ENST00000448392) - p.Ile334Thr (cosmic curated:ENST00000448392) - c.1001T>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747084 rs1477897384 | 341 | R>Q | cosmic curated TOPMed | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42228747C>T Codon: CGG/CAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42228747C>T Locations: - p.Arg341Gln (cosmic curated:ENST00000448392) - c.1022G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV101100466 rs1007043015 | 341 | R>W | cosmic curated TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42228748G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42228748G>A Locations: - p.Arg341Trp (cosmic curated:ENST00000448392) - c.1021C>T (cosmic curated:ENST00000448392) Source type: large scale study | |||||||
COSV105933824 | 350 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42228720G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42228720G>A Locations: - p.Ala350Val (cosmic curated:ENST00000448392) - c.1049C>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV101100564 | 363 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42227738C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42227738C>T Locations: - p.Met363Ile (cosmic curated:ENST00000448392) - c.1089G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746350 rs748032270 | 363 | M>V | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42227740T>C Codon: ATG/GTG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42227740T>C Locations: - p.Met363Val (cosmic curated:ENST00000448392) - c.1087A>G (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746260 | 370 | C>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42227719A>G Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42227719A>G Locations: - p.C370R (NCI-TCGA:ENST00000448392) - p.Cys370Arg (cosmic curated:ENST00000448392) - c.1108T>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV101100613 rs779660502 | 375 | R>W | cosmic curated ExAC gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42226903G>A Codon: CGG/TGG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42226903G>A Locations: - p.Arg375Trp (cosmic curated:ENST00000448392) - c.1123C>T (cosmic curated:ENST00000448392) Source type: large scale study | |||||||
COSV67747666 rs778029392 | 379 | V>G | cosmic curated ExAC gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42226890A>C Codon: GTA/GGA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42226890A>C Locations: - p.Val379Gly (cosmic curated:ENST00000448392) - c.1136T>G (cosmic curated:ENST00000448392) Source type: large scale study | |||||||
COSV67747687 | 380 | D>E | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42226886G>C Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42226886G>C Locations: - p.Asp380Glu (cosmic curated:ENST00000448392) - c.1140C>G (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747697 | 381 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42226884T>C Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42226884T>C Locations: - p.D381G (NCI-TCGA:ENST00000448392) - p.Asp381Gly (cosmic curated:ENST00000448392) - c.1142A>G (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV101100394 | 382 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42226882C>T Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42226882C>T Locations: - p.A382T (NCI-TCGA:ENST00000448392) - p.Ala382Thr (cosmic curated:ENST00000448392) - c.1144G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747160 | 382 | A>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42226881G>A Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42226881G>A Locations: - p.Ala382Val (cosmic curated:ENST00000448392) - c.1145C>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV104703632 rs2050605206 | 385 | R>C | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42226873G>A Codon: CGC/TGC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42226873G>A Locations: - p.Arg385Cys (cosmic curated:ENST00000448392) - c.1153C>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV101100235 rs373502445 | 385 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.0002 (1000Genomes) Accession: NC_000015.10:g.42226872C>T Codon: CGC/CAC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42226872C>T Locations: - p.R385H (NCI-TCGA:ENST00000448392) - p.Arg385His (cosmic curated:ENST00000448392) - c.1154G>A (cosmic curated:ENST00000448392) Source type: large scale study | |||||||
COSV67746771 | 386 | L>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42226868C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42226868C>A Locations: - p.Leu386Phe (cosmic curated:ENST00000448392) - c.1158G>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67748012 | 389 | S>F | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42226859-42226860GG>AA Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42226859-42226860GG>AA Locations: - p.Ser389Phe (cosmic curated:ENST00000448392) - c.1166_1167delinsTT (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747614 | 391 | I>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42226855T>G Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42226855T>G Locations: - p.Ile391Leu (cosmic curated:ENST00000448392) - c.1171A>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746884 | 394 | V>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42226845A>C Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42226845A>C Locations: - p.Val394Gly (cosmic curated:ENST00000448392) - c.1181T>G (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747048 COSV67747260 | 396 | M>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42226839A>T Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42226839A>T Locations: - p.M396K (NCI-TCGA:ENST00000448392) - p.Met396Lys (cosmic curated:ENST00000448392) - c.1187T>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747048 rs1302153399 | 396 | M>T | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42226839A>G Codon: ATG/ACG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42226839A>G Locations: - p.Met396Thr (cosmic curated:ENST00000448392) - c.1187T>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746177 | 397 | V>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42226837C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42226837C>G Locations: - p.Val397Leu (cosmic curated:ENST00000448392) - c.1189G>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV104703631 | 398 | L>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42226833A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42226833A>G Locations: - p.Leu398Pro (cosmic curated:ENST00000448392) - c.1193T>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747919 rs1218080191 | 400 | R>Q | cosmic curated TOPMed | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42226827C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42226827C>T Locations: - p.Arg400Gln (cosmic curated:ENST00000448392) - c.1199G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747662 rs750857166 | 409 | A>T | cosmic curated ExAC TOPMed gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42220131C>T Codon: GCC/ACC Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42220131C>T Locations: - p.Ala409Thr (cosmic curated:ENST00000448392) - c.1225G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV107502916 | 419 | E>G | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42220100T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42220100T>C Locations: - p.Glu419Gly (cosmic curated:ENST00000448392) - c.1256A>G (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV106554646 | 421 | E>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42220095C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42220095C>A Locations: - p.Glu421Ter (cosmic curated:ENST00000448392) - c.1261G>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747193 | 421 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42220095C>T Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42220095C>T Locations: - p.E421K (NCI-TCGA:ENST00000448392) - p.Glu421Lys (cosmic curated:ENST00000448392) - c.1261G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV101100329 rs1475385622 | 424 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42220086C>T Codon: GAG/AAG Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42220086C>T Locations: - p.E424K (NCI-TCGA:ENST00000448392) - p.Glu424Lys (cosmic curated:ENST00000448392) - c.1270G>A (cosmic curated:ENST00000448392) Source type: large scale study | |||||||
COSV67747678 | 425 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42220083G>A Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42220083G>A Locations: - p.P425S (NCI-TCGA:ENST00000448392) - p.Pro425Ser (cosmic curated:ENST00000448392) - c.1273C>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747480 rs1257167626 | 426 | M>I | cosmic curated gnomAD | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42220078C>T Codon: ATG/ATA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42220078C>T Locations: - p.Met426Ile (cosmic curated:ENST00000448392) - c.1278G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV101100219 | 429 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42220071C>G Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42220071C>G Locations: - p.E429Q (NCI-TCGA:ENST00000448392) - p.Glu429Gln (cosmic curated:ENST00000448392) - c.1285G>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746687 | 436 | M>V | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42219631T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42219631T>C Locations: - p.Met436Val (cosmic curated:ENST00000448392) - c.1306A>G (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747898 rs1241727865 | 442 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42219613C>T Codon: GAA/AAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42219613C>T Locations: - p.E442K (NCI-TCGA:ENST00000448392) - p.Glu442Lys (cosmic curated:ENST00000448392) - c.1324G>A (cosmic curated:ENST00000448392) Source type: large scale study | |||||||
COSV67746571 | 445 | G>R | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42219604C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42219604C>T Locations: - p.Gly445Arg (cosmic curated:ENST00000448392) - c.1333G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747339 | 447 | S>C | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42219598T>A Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42219598T>A Locations: - p.Ser447Cys (cosmic curated:ENST00000448392) - c.1339A>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747577 | 449 | V>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42219592C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42219592C>T Locations: - p.Val449Ile (cosmic curated:ENST00000448392) - c.1345G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747856 | 463 | N>S | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42218347T>C Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42218347T>C Locations: - p.Asn463Ser (cosmic curated:ENST00000448392) - c.1388A>G (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746767 | 468 | V>L | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42218333C>A Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42218333C>A Locations: - p.Val468Leu (cosmic curated:ENST00000448392) - c.1402G>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67746293 | 476 | L>P | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42217819A>G Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42217819A>G Locations: - p.Leu476Pro (cosmic curated:ENST00000448392) - c.1427T>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV101100318 | 479 | S>* | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42217810G>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42217810G>T Locations: - p.Ser479Ter (cosmic curated:ENST00000448392) - c.1436C>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV67747522 | 480 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42217808C>T Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42217808C>T Locations: - p.D480N (NCI-TCGA:ENST00000448392) - p.Asp480Asn (cosmic curated:ENST00000448392) - c.1438G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV100529052 rs1311560827 | 483 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |||
Consequence: missense Somatic: Yes Population frequencies: - MAF: 0.000004032 (gnomAD) Accession: NC_000015.10:g.42211745C>T Codon: CGA/CAA Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42211745C>T Locations: - p.R483Q (NCI-TCGA:ENST00000448392) - p.Arg483Gln (cosmic curated:ENST00000448392) - c.1448G>A (cosmic curated:ENST00000448392) Source type: large scale study | |||||||
COSV58790273 | 484 | M>I | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42211741C>T Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42211741C>T Locations: - p.Met484Ile (cosmic curated:ENST00000448392) - c.1452G>A (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV58791724 | 489 | E>Q | cosmic curated | ||||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42211728C>G Consequence type: missense Cytogenetic band: Genomic location: NC_000015.10:g.42211728C>G Locations: - p.Glu489Gln (cosmic curated:ENST00000448392) - c.1465G>C (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: | |||||||
COSV100529369 | 491 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | |||
Consequence: missense Somatic: Yes Accession: NC_000015.10:g.42211721G>A Consequence type: missense Cytogenetic band: 15q15.1 Genomic location: NC_000015.10:g.42211721G>A Locations: - p.S491F (NCI-TCGA:ENST00000448392) - p.Ser491Phe (cosmic curated:ENST00000448392) - c.1472C>T (cosmic curated:ENST00000448392) Source type: large scale study Cross-references: |