Q9UGM5 · FETUB_HUMAN
- ProteinFetuin-B
- GeneFETUB
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids382 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score5/5
Variants
Filter Consequence
Filter Provenance
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | |
---|---|---|---|---|---|---|
COSV54006548 | 1 | M>? | cosmic curated | |||
rs1716938023 | 2 | G>D | gnomAD | |||
COSV54005442 | 2 | G>S | cosmic curated | |||
rs777734532 | 3 | L>M | ExAC gnomAD | |||
rs749344992 | 4 | L>F | ExAC gnomAD | |||
rs771059133 | 6 | P>A | ExAC gnomAD | |||
COSV104369777 | 6 | P>H | cosmic curated | |||
rs774653268 | 6 | P>L | ExAC TOPMed gnomAD | |||
rs774653268 | 6 | P>R | ExAC TOPMed gnomAD | |||
rs910733298 | 7 | L>P | TOPMed gnomAD | |||
rs374422961 | 7 | L>V | ESP ExAC TOPMed gnomAD | |||
rs772560857 | 8 | A>S | ExAC gnomAD | |||
rs942429963 | 8 | A>V | TOPMed gnomAD | |||
COSV99409127 rs1716941738 | 9 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | ||
rs964933995 | 9 | L>P | TOPMed | |||
COSV54005835 | 10 | C>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV54006687 | 10 | C>F | cosmic curated | |||
COSV54004857 | 11 | I>M | cosmic curated | |||
rs200214885 | 11 | I>N | 1000Genomes gnomAD | |||
rs200214885 | 11 | I>T | 1000Genomes gnomAD | |||
rs1266900650 | 12 | L>P | gnomAD | |||
rs1716943189 | 13 | V>I | Ensembl | |||
rs764614441 | 15 | C>Y | ExAC TOPMed gnomAD | |||
rs1716944042 | 16 | C>R | TOPMed | |||
RCV000956161 rs112267492 | 16 | C>W | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
rs368316054 | 16 | C>Y | ESP ExAC TOPMed gnomAD | |||
COSV54005717 rs148037844 | 17 | G>R | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | ||
rs1716945347 | 17 | G>V | TOPMed | |||
rs1716945758 | 19 | M>I | Ensembl | |||
rs1716945564 | 19 | M>V | Ensembl | |||
rs779795831 | 20 | S>P | ExAC | |||
rs929621480 | 21 | P>L | Ensembl | |||
COSV54005333 | 21 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs527318265 | 22 | P>H | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | ||
rs1716947654 | 23 | Q>* | Ensembl | |||
rs749337887 | 23 | Q>H | ExAC gnomAD | |||
rs1363184236 | 24 | L>P | gnomAD | |||
rs1363184236 | 24 | L>Q | gnomAD | |||
rs771117496 | 25 | A>T | ExAC TOPMed gnomAD | |||
rs779343254 | 25 | A>V | ExAC gnomAD | |||
rs746056838 | 28 | P>A | ExAC TOPMed gnomAD | |||
COSV105000775 | 28 | P>L | cosmic curated | |||
rs746056838 | 28 | P>S | ExAC TOPMed gnomAD | |||
rs772612081 | 29 | S>L | ExAC TOPMed gnomAD | |||
rs772612081 | 29 | S>W | ExAC TOPMed gnomAD | |||
COSV99409153 | 30 | A>G | cosmic curated | |||
rs769048014 | 30 | A>S | ExAC gnomAD | |||
rs769048014 | 30 | A>T | ExAC gnomAD | |||
COSV54005544 | 31 | L>P | cosmic curated | |||
rs941272371 | 31 | L>Q | TOPMed | |||
rs371809765 | 32 | L>F | ESP ExAC TOPMed gnomAD | |||
COSV54005187 | 33 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
VAR_049061 rs34522046 | 33 | S>P | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
rs772894969 | 34 | R>P | ExAC TOPMed gnomAD | |||
COSV54005027 rs772894969 | 34 | R>Q | cosmic curated ExAC TOPMed gnomAD | |||
rs764727229 | 34 | R>W | ExAC TOPMed gnomAD | |||
rs762574726 | 35 | G>D | ExAC TOPMed gnomAD | |||
rs1003409066 | 35 | G>R | Ensembl | |||
COSV99409192 | 35 | G>S | cosmic curated | |||
rs762574726 | 35 | G>V | ExAC TOPMed gnomAD | |||
COSV54006017 | 36 | C>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs201789536 | 37 | N>I | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | ||
rs201789536 | 37 | N>S | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | ||
rs376148158 | 40 | D>E | ESP gnomAD | |||
COSV54006374 | 40 | D>H | cosmic curated | |||
COSV54006374 rs754740084 | 40 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | ||
rs1560019001 | 41 | V>A | Ensembl | |||
rs752675767 | 42 | L>P | ExAC gnomAD | |||
rs779112043 | 44 | V>G | ExAC gnomAD | |||
rs757453182 | 44 | V>I | ExAC gnomAD | |||
rs1313360077 | 48 | A>D | TOPMed gnomAD | |||
COSV54004842 rs1313360077 | 48 | A>V | cosmic curated TOPMed gnomAD | |||
COSV54004990 | 49 | L>M | cosmic curated | |||
rs1382376061 | 49 | L>P | gnomAD | |||
COSV54006750 rs780257727 | 50 | R>Q | cosmic curated ExAC TOPMed gnomAD | |||
COSV54005672 rs758726643 | 50 | R>W | cosmic curated ExAC gnomAD | |||
rs1397579731 | 52 | I>V | TOPMed gnomAD | |||
rs1716959876 | 53 | N>K | TOPMed | |||
rs777074847 | 54 | K>N | ExAC gnomAD | |||
rs769051713 | 54 | K>R | ExAC TOPMed gnomAD | |||
rs143924813 | 55 | D>G | ESP ExAC TOPMed gnomAD | |||
COSV54005287 rs1716960721 | 55 | D>H | cosmic curated TOPMed | |||
COSV54005287 | 55 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs569316516 | 56 | R>G | 1000Genomes ExAC gnomAD | |||
TCGA novel | 56 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs145796461 | 57 | K>M | ESP ExAC TOPMed gnomAD | |||
COSV54007081 | 57 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs145796461 | 57 | K>R | ESP ExAC TOPMed gnomAD | |||
COSV54007181 | 58 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
TCGA novel | 59 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs774036717 | 59 | G>S | ExAC TOPMed gnomAD | |||
rs1716962910 | 60 | Y>C | TOPMed gnomAD | |||
rs938289128 | 60 | Y>N | TOPMed | |||
rs1047390103 | 61 | V>M | Ensembl | |||
COSV99408872 | 63 | R>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1716964045 | 64 | L>F | TOPMed | |||
rs1401741224 | 65 | N>K | TOPMed gnomAD | |||
COSV54005091 rs367977932 | 66 | R>* | cosmic curated ESP ExAC TOPMed gnomAD | |||
COSV99408989 | 66 | R>G | cosmic curated | |||
rs148983576 | 66 | R>P | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs148983576 | 66 | R>Q | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs1321070218 | 67 | V>A | gnomAD | |||
COSV99409197 | 68 | N>I | cosmic curated | |||
rs756141842 | 68 | N>K | ExAC TOPMed gnomAD | |||
rs780199886 | 69 | D>E | ExAC TOPMed gnomAD | |||
rs190204768 | 69 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
rs146913398 | 69 | D>N | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs370379105 | 70 | A>D | ExAC gnomAD | |||
rs200196621 | 70 | A>T | TOPMed gnomAD | |||
COSV105000802 rs370379105 | 70 | A>V | cosmic curated ExAC gnomAD | |||
TCGA novel rs2108514255 | 72 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Ensembl | ||
rs1560019209 | 73 | Y>H | Ensembl | |||
rs1318580020 | 74 | R>G | gnomAD | |||
COSV54006098 rs773072487 | 75 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
COSV54006098 | 75 | R>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs773072487 | 75 | R>Q | ExAC TOPMed gnomAD | |||
COSV54006758 rs182506996 | 75 | R>W | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
rs765038127 | 76 | G>A | Likely benign (Ensembl) | ExAC TOPMed gnomAD | ||
rs761792521 | 76 | G>C | ExAC TOPMed gnomAD | |||
rs765038127 | 76 | G>D | Likely benign (Ensembl) | ExAC TOPMed gnomAD | ||
rs1286207416 | 77 | G>S | gnomAD | |||
rs1039011321 | 79 | G>R | TOPMed | |||
rs1219695505 COSV54006657 | 82 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | gnomAD NCI-TCGA Cosmic cosmic curated | ||
rs902067646 | 83 | Y>C | gnomAD | |||
rs1560019647 | 84 | L>F | Ensembl | |||
rs1560019647 | 84 | L>V | Ensembl | |||
rs1193387243 | 85 | T>I | gnomAD | |||
rs759473591 | 87 | D>G | ExAC TOPMed gnomAD | |||
rs2108515375 | 87 | D>H | Ensembl | |||
COSV99409012 | 88 | V>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs767780751 | 88 | V>M | ExAC gnomAD | |||
rs752909498 | 89 | L>Q | ExAC gnomAD | |||
rs567177835 | 90 | E>Q | 1000Genomes ExAC TOPMed gnomAD | |||
rs754151211 | 91 | T>A | ExAC TOPMed gnomAD | |||
rs2108515428 | 93 | C>R | Ensembl | |||
rs757812774 | 93 | C>Y | ExAC gnomAD | |||
rs745397016 | 94 | H>Q | ExAC TOPMed gnomAD | |||
rs1717015031 | 94 | H>R | TOPMed | |||
TCGA novel | 95 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs1717015804 | 97 | R>* | TOPMed | |||
rs1717016032 | 97 | R>K | Ensembl | |||
rs757834367 | 97 | R>S | ExAC gnomAD | |||
rs1717016032 | 97 | R>T | Ensembl | |||
rs779921072 | 99 | K>E | Variant of uncertain significance (Ensembl) | ExAC gnomAD | ||
COSV107302669 rs1560019746 | 100 | A>T | cosmic curated gnomAD | |||
COSV99408840 rs768623497 COSV99408843 COSV99408990 | 101 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
COSV99408843 COSV99408990 | 101 | W>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs201001948 | 101 | W>R | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs776592798 | 102 | Q>R | ExAC gnomAD | |||
rs373009962 | 105 | G>E | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | ||
rs747861362 | 105 | G>R | ExAC TOPMed gnomAD | |||
rs1250055555 | 106 | M>I | TOPMed gnomAD | |||
rs773005796 | 107 | R>K | ExAC TOPMed gnomAD | |||
rs773005796 | 107 | R>T | ExAC TOPMed gnomAD | |||
COSV104593800 | 108 | I>T | cosmic curated | |||
rs759724113 | 109 | F>L | ExAC TOPMed gnomAD | |||
rs759724113 | 109 | F>V | ExAC TOPMed gnomAD | |||
rs767551560 | 110 | F>S | ExAC gnomAD | |||
rs2108515615 | 111 | E>K | Ensembl | |||
rs1579032682 | 111 | E>V | Ensembl | |||
rs760907306 | 112 | S>L | ExAC | |||
rs775735266 | 112 | S>P | ExAC gnomAD | |||
rs879063810 | 113 | V>D | Ensembl | |||
rs1175085598 | 113 | V>I | gnomAD | |||
rs1717146608 | 114 | Y>* | gnomAD | |||
rs1359435479 | 114 | Y>C | gnomAD | |||
COSV99408938 | 116 | Q>* | cosmic curated | |||
COSV99408938 COSV99409147 | 116 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV105000770 | 116 | Q>H | cosmic curated | |||
rs1241901633 | 117 | C>Y | TOPMed gnomAD | |||
rs996517120 | 118 | K>E | Ensembl | |||
rs775576005 | 119 | A>S | ExAC gnomAD | |||
COSV99408856 | 119 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs760680484 | 119 | A>V | ExAC TOPMed gnomAD | |||
COSV104593809 | 120 | I>T | cosmic curated | |||
rs368129449 | 120 | I>V | ESP gnomAD | |||
rs930715187 | 122 | Y>C | TOPMed | |||
rs184142108 | 122 | Y>H | 1000Genomes ExAC gnomAD | |||
rs371628207 | 123 | M>R | ESP ExAC TOPMed gnomAD | |||
rs371628207 | 123 | M>T | ESP ExAC TOPMed gnomAD | |||
rs1717149675 | 124 | N>K | Ensembl | |||
rs146420299 | 125 | N>D | ESP ExAC TOPMed gnomAD | |||
COSV54006091 | 125 | N>I | cosmic curated | |||
COSV54006903 rs1717150242 | 125 | N>S | cosmic curated TOPMed | |||
COSV106090944 rs1717150933 | 126 | P>L | cosmic curated Ensembl | |||
rs1219069418 | 126 | P>S | gnomAD | |||
rs1219069418 | 126 | P>T | gnomAD | |||
rs1279758463 | 127 | S>N | TOPMed gnomAD | |||
rs77346508 | 128 | R>G | 1000Genomes ESP ExAC TOPMed gnomAD | |||
COSV54004808 COSV99408995 | 128 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV54004808 | 128 | R>K | cosmic curated | |||
COSV54005358 rs1262593996 | 129 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | ||
rs1717152465 | 129 | V>L | Ensembl | |||
rs766955275 | 130 | L>F | ExAC TOPMed gnomAD | |||
rs766955275 | 130 | L>I | ExAC TOPMed gnomAD | |||
rs1265332034 | 130 | L>P | gnomAD | |||
rs754483854 | 131 | Y>C | ExAC TOPMed gnomAD | |||
rs375966035 | 131 | Y>H | ESP ExAC gnomAD | |||
rs1342035611 | 133 | A>T | TOPMed gnomAD | |||
rs1717155233 | 133 | A>V | TOPMed | |||
COSV99034935 | 134 | A>P | cosmic curated | |||
rs1717155560 | 134 | A>S | TOPMed | |||
rs1579036306 | 134 | A>V | Variant of uncertain significance (Ensembl) | Ensembl | ||
rs1717156499 | 135 | Y>* | gnomAD | |||
rs780961033 | 135 | Y>C | ExAC gnomAD | |||
rs780961033 | 135 | Y>F | ExAC gnomAD | |||
rs1300900401 | 136 | N>K | TOPMed | |||
rs1415848044 | 137 | C>R | gnomAD | |||
rs755984506 | 138 | T>I | ExAC gnomAD | |||
rs755984506 | 138 | T>N | ExAC gnomAD | |||
COSV99409137 rs1419854189 | 139 | L>I | cosmic curated gnomAD | |||
COSV54005535 COSV99409137 | 139 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV99409194 rs777448278 | 140 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
COSV54006677 rs141401279 | 140 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | |
rs1436353777 | 141 | P>S | gnomAD | |||
COSV54005709 | 144 | K>I | cosmic curated | |||
rs1717352230 | 144 | K>T | Ensembl | |||
rs757032153 | 145 | K>T | ExAC gnomAD | |||
COSV99409206 rs918883210 | 146 | K>* | cosmic curated TOPMed gnomAD | |||
rs778889689 | 146 | K>N | ExAC gnomAD | |||
rs1579041220 | 147 | I>N | Ensembl | |||
COSV106090938 | 147 | I>T | cosmic curated | |||
COSV54005603 | 147 | I>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs745773631 | 148 | Y>C | ExAC gnomAD | |||
COSV54005210 | 148 | Y>F | cosmic curated | |||
rs188313975 | 149 | M>L | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs1282528899 | 149 | M>R | gnomAD | |||
rs1282528899 | 149 | M>T | gnomAD | |||
rs188313975 | 149 | M>V | 1000Genomes ESP ExAC TOPMed gnomAD | |||
COSV54006855 rs541290079 | 150 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
rs1290592828 | 151 | C>* | TOPMed gnomAD | |||
rs769915545 | 152 | P>T | ExAC TOPMed gnomAD | |||
rs1242294776 | 156 | S>N | Ensembl | |||
COSV54006266 | 156 | S>R | cosmic curated | |||
COSV106374949 | 157 | S>F | cosmic curated | |||
rs773429917 | 159 | P>L | ExAC gnomAD | |||
rs1439954804 | 162 | S>P | gnomAD | |||
rs1717358793 | 162 | S>Y | TOPMed gnomAD | |||
rs2108526322 | 163 | S>F | Ensembl | |||
rs79613655 | 163 | S>P | Ensembl | |||
rs948491606 | 164 | N>K | gnomAD | |||
rs1180074039 | 164 | N>S | TOPMed gnomAD | |||
COSV107302535 | 165 | H>L | cosmic curated | |||
COSV106374909 | 165 | H>N | cosmic curated | |||
COSV54005196 | 165 | H>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV99034933 rs1717360097 | 165 | H>R | cosmic curated TOPMed | |||
TCGA novel | 166 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
COSV54005012 | 166 | Q>H | cosmic curated | |||
rs763473292 | 166 | Q>K | ExAC gnomAD | |||
rs1717361174 | 167 | V>G | TOPMed gnomAD | |||
rs1472138378 | 167 | V>L | TOPMed gnomAD | |||
rs79103998 | 168 | L>P | TOPMed gnomAD | |||
rs1717362098 | 169 | E>K | TOPMed | |||
COSV54005428 | 170 | A>S | cosmic curated | |||
rs775043391 | 170 | A>V | ExAC TOPMed gnomAD | |||
rs1331140462 | 171 | A>T | gnomAD | |||
COSV54005803 | 171 | A>V | cosmic curated | |||
rs267599723 | 172 | T>I | Ensembl | |||
COSV54006628 | 172 | T>N | cosmic curated | |||
rs1717363643 | 172 | T>P | Ensembl | |||
COSV99408912 rs199634697 | 173 | E>* | Variant of uncertain significance (Ensembl) | cosmic curated 1000Genomes ExAC TOPMed gnomAD | ||
rs760171993 | 173 | E>D | ExAC gnomAD | |||
rs752152102 | 173 | E>G | ExAC gnomAD | |||
rs199634697 | 173 | E>K | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | ||
COSV99409023 | 174 | S>C | cosmic curated | |||
rs753484336 | 175 | L>P | ExAC gnomAD | |||
rs149523201 | 176 | A>E | ESP ExAC TOPMed gnomAD | |||
COSV54004743 | 176 | A>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV54004743 COSV54005898 rs149523201 | 176 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
COSV99408905 | 178 | Y>C | cosmic curated | |||
rs541856731 | 180 | N>S | 1000Genomes ExAC gnomAD | |||
COSV54004551 | 183 | T>I | cosmic curated | |||
COSV54005277 | 184 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs778177725 | 184 | S>P | ExAC gnomAD | |||
TCGA novel | 186 | Q>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs1424799394 | 186 | Q>L | gnomAD | |||
rs1717371298 | 187 | Y>* | Ensembl | |||
COSV54006709 | 188 | S>C | cosmic curated | |||
rs540816433 | 189 | L>F | 1000Genomes ExAC TOPMed gnomAD | |||
rs540816433 | 189 | L>V | 1000Genomes ExAC TOPMed gnomAD | |||
COSV54006010 | 190 | F>I | cosmic curated | |||
COSV54007022 | 191 | K>E | cosmic curated | |||
rs1292692552 | 191 | K>R | TOPMed gnomAD | |||
rs1031546008 | 192 | V>A | gnomAD | |||
COSV54007400 | 193 | T>I | cosmic curated | |||
COSV54005001 rs1717373615 | 195 | A>T | cosmic curated TOPMed | |||
rs2108526755 | 195 | A>V | 1000Genomes | |||
COSV54005762 | 196 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs774885834 | 196 | S>Y | ExAC gnomAD | |||
rs1717374200 | 197 | S>G | Ensembl | |||
COSV54005886 rs2108531519 | 199 | W>* | cosmic curated Ensembl | |||
rs776150518 | 199 | W>G | ExAC TOPMed gnomAD | |||
COSV99409203 rs776150518 | 199 | W>R | cosmic curated ExAC TOPMed gnomAD | |||
rs1487155193 | 200 | V>M | gnomAD | |||
rs2108531566 | 201 | V>F | Ensembl | |||
TCGA novel | 202 | G>A | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
VAR_024449 COSV107302534 rs6785067 | 202 | G>S | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
rs1717528648 | 203 | P>L | TOPMed | |||
rs139111101 | 203 | P>S | ESP ExAC TOPMed gnomAD | |||
rs139111101 | 203 | P>T | ESP ExAC TOPMed gnomAD | |||
COSV105000801 rs1717529582 | 204 | S>F | cosmic curated TOPMed | |||
rs1234055981 | 205 | Y>H | TOPMed | |||
rs1717531103 | 207 | V>A | TOPMed | |||
rs751259988 | 207 | V>M | ExAC gnomAD | |||
rs1717532838 | 208 | E>D | Ensembl | |||
rs1293457641 | 208 | E>G | TOPMed gnomAD | |||
rs376462332 | 208 | E>K | ESP TOPMed gnomAD | |||
COSV99408828 rs759546734 | 209 | Y>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
rs759546734 | 209 | Y>F | ExAC TOPMed gnomAD | |||
rs1389753216 | 210 | L>F | gnomAD | |||
COSV99408951 | 211 | I>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1436993236 | 211 | I>V | gnomAD | |||
rs189137781 | 212 | K>Q | 1000Genomes ExAC TOPMed gnomAD | |||
COSV54004883 | 213 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV54005119 | 214 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1717535630 | 214 | S>P | Ensembl | |||
COSV99409134 | 215 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1324809982 | 215 | P>T | TOPMed | |||
TCGA novel | 216 | C>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs139353499 | 216 | C>G | ESP ExAC TOPMed gnomAD | |||
rs139353499 | 216 | C>R | ESP ExAC TOPMed gnomAD | |||
COSV99408845 | 216 | C>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs964140776 | 216 | C>Y | Ensembl | |||
rs371042019 | 217 | T>A | ESP ExAC TOPMed gnomAD | |||
rs371042019 | 217 | T>S | ESP ExAC TOPMed gnomAD | |||
COSV54007235 | 219 | S>A | cosmic curated | |||
COSV54006328 rs1167682354 | 219 | S>F | cosmic curated TOPMed gnomAD | |||
rs1167682354 | 219 | S>Y | TOPMed gnomAD | |||
rs1243263075 | 220 | Q>L | TOPMed gnomAD | |||
rs1243263075 | 220 | Q>P | TOPMed gnomAD | |||
rs1489084102 | 224 | C>S | TOPMed gnomAD | |||
COSV54005776 rs1717540680 | 225 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | ||
rs1452965719 | 226 | L>F | TOPMed | |||
rs1214574887 | 229 | S>F | TOPMed | |||
rs1203906061 | 230 | D>G | TOPMed gnomAD | |||
rs529475246 | 230 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
COSV54006256 rs1717543279 | 231 | S>T | cosmic curated Ensembl | |||
rs892839203 | 232 | V>A | TOPMed gnomAD | |||
rs1717543623 | 232 | V>L | gnomAD | |||
rs1717543623 | 232 | V>M | gnomAD | |||
COSV54005465 | 233 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
TCGA novel | 234 | V>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs780075240 | 235 | G>C | ExAC gnomAD | |||
rs780075240 | 235 | G>S | ExAC gnomAD | |||
rs1718006169 | 236 | L>V | Ensembl | |||
rs1169349944 | 239 | G>C | TOPMed | |||
COSV108077483 | 239 | G>D | cosmic curated | |||
rs770529330 | 239 | G>V | ExAC TOPMed gnomAD | |||
rs777819865 | 241 | L>P | Ensembl | |||
COSV54005248 | 241 | L>V | cosmic curated | |||
rs755325828 | 243 | R>* | ExAC TOPMed gnomAD | |||
rs143617617 | 243 | R>P | Benign (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | ||
COSV54004720 RCV000883167 rs143617617 | 243 | R>Q | Benign (Ensembl, ClinVar) | cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
rs770232891 | 244 | T>I | ExAC TOPMed gnomAD | |||
rs777369711 | 246 | W>* | ExAC TOPMed gnomAD | |||
rs777369711 | 246 | W>C | ExAC TOPMed gnomAD | |||
COSV105872812 | 246 | W>L | cosmic curated | |||
COSV99408982 | 246 | W>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs748675931 | 247 | E>G | ExAC gnomAD | |||
COSV54005512 rs1718009339 | 247 | E>K | cosmic curated TOPMed | |||
rs770628254 | 248 | K>N | ExAC gnomAD | |||
COSV104369775 | 249 | F>C | cosmic curated | |||
rs1718010599 | 249 | F>I | TOPMed | |||
rs1480334981 | 250 | V>A | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | ||
COSV99408952 | 250 | V>I | cosmic curated | |||
COSV105000771 | 251 | S>F | cosmic curated | |||
rs1718011201 | 251 | S>P | TOPMed | |||
rs145235667 | 252 | V>A | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs145235667 | 252 | V>E | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs1053477191 | 252 | V>L | Ensembl | |||
rs1436286705 | 253 | T>I | TOPMed gnomAD | |||
rs1249998967 | 254 | C>G | TOPMed | |||
rs771961392 | 254 | C>S | ExAC TOPMed gnomAD | |||
rs771961392 | 254 | C>Y | ExAC TOPMed gnomAD | |||
rs1301783778 | 255 | D>N | gnomAD | |||
rs1379196808 | 257 | F>V | TOPMed gnomAD | |||
COSV99408954 | 258 | E>* | cosmic curated | |||
COSV54007635 rs776422401 | 262 | P>L | cosmic curated ExAC TOPMed gnomAD | |||
COSV99408997 rs370905116 | 263 | A>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ESP dbSNP gnomAD | ||
rs1389469906 | 263 | A>S | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | ||
rs370905116 | 263 | A>V | ESP gnomAD | |||
rs763130941 | 264 | T>A | ExAC gnomAD | |||
COSV104593790 | 265 | G>E | cosmic curated | |||
rs766361957 | 269 | S>A | ExAC gnomAD | |||
rs1216343871 | 269 | S>C | gnomAD | |||
COSV105000777 | 269 | S>F | cosmic curated | |||
COSV54006958 | 272 | N>K | cosmic curated | |||
rs774610557 | 272 | N>Y | ExAC TOPMed gnomAD | |||
rs1718113449 | 273 | Q>E | TOPMed | |||
COSV104593795 | 273 | Q>K | cosmic curated | |||
rs759762671 | 273 | Q>L | ExAC gnomAD | |||
rs185183707 | 276 | T>I | 1000Genomes ExAC TOPMed gnomAD | |||
COSV54006731 rs185183707 | 276 | T>K | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
rs1288349395 | 277 | N>I | gnomAD | |||
rs1395363685 | 278 | L>I | gnomAD | |||
rs753085487 | 279 | P>R | ExAC gnomAD | |||
rs1718115500 | 279 | P>S | gnomAD | |||
rs1426219482 | 280 | K>E | Ensembl | |||
rs1156339450 | 280 | K>M | gnomAD | |||
rs756414944 TCGA novel | 280 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed gnomAD NCI-TCGA | ||
rs1156339450 | 280 | K>R | gnomAD | |||
rs1401810341 | 281 | V>A | gnomAD | |||
rs1401810341 | 281 | V>G | gnomAD | |||
COSV105000806 rs754297554 | 282 | E>K | cosmic curated ExAC gnomAD | |||
COSV54005619 COSV99408917 rs1436286399 | 283 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | ||
COSV54005619 rs1436286399 | 283 | E>K | cosmic curated TOPMed gnomAD | |||
TCGA novel | 285 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
rs1326971523 | 286 | Q>* | gnomAD | |||
rs1211739058 | 287 | K>R | TOPMed | |||
rs540157028 | 289 | T>I | ExAC TOPMed gnomAD | |||
rs540157028 | 289 | T>N | ExAC TOPMed gnomAD | |||
rs1579058616 | 289 | T>P | Ensembl | |||
rs540157028 | 289 | T>S | ExAC TOPMed gnomAD | |||
COSV54007057 | 290 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs142401278 | 291 | P>A | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | ||
rs1286339148 | 291 | P>L | gnomAD | |||
rs142401278 | 291 | P>S | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | ||
rs142401278 | 291 | P>T | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | ||
rs1449781221 | 292 | T>K | gnomAD | |||
COSV54004660 | 293 | D>H | cosmic curated | |||
COSV54004660 COSV54006777 | 293 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs902979028 | 294 | S>F | TOPMed gnomAD | |||
COSV54004768 COSV99408873 | 294 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV54004768 | 294 | S>T | cosmic curated | |||
rs902979028 | 294 | S>Y | TOPMed gnomAD | |||
COSV54006159 rs1220613881 | 295 | P>H | cosmic curated TOPMed gnomAD | |||
rs1220613881 | 295 | P>L | TOPMed gnomAD | |||
rs779802500 | 296 | S>A | ExAC TOPMed gnomAD | |||
COSV54007353 | 296 | S>P | cosmic curated | |||
rs779802500 | 296 | S>T | ExAC TOPMed gnomAD | |||
COSV54004675 | 297 | K>N | cosmic curated | |||
COSV54004667 | 297 | K>Q | cosmic curated | |||
COSV54004685 | 298 | A>P | cosmic curated | |||
COSV54006818 | 299 | G>A | cosmic curated | |||
COSV54004789 | 299 | G>R | cosmic curated | |||
rs375303300 | 300 | P>Q | ESP ExAC TOPMed gnomAD | |||
rs375303300 | 300 | P>R | ESP ExAC TOPMed gnomAD | |||
COSV54004694 | 300 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs768301989 | 301 | R>G | ExAC gnomAD | |||
rs776694967 | 301 | R>K | ExAC gnomAD | |||
COSV54007094 | 302 | G>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV54004890 COSV99409130 | 302 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV54004890 COSV99409130 | 302 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV54006457 | 303 | S>C | cosmic curated | |||
rs2108552430 | 303 | S>F | Ensembl | |||
rs2108552416 | 303 | S>T | Ensembl | |||
rs2108552430 | 303 | S>Y | Ensembl | |||
rs1327027325 | 304 | V>A | gnomAD | |||
rs1718129278 | 305 | Q>E | TOPMed | |||
COSV54006243 | 305 | Q>R | cosmic curated | |||
rs1397075352 | 307 | L>I | gnomAD | |||
TCGA novel rs1718130188 | 308 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed | ||
COSV54007248 | 308 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1718130675 | 309 | D>E | gnomAD | |||
rs1718130384 | 309 | D>N | gnomAD | |||
COSV54004831 | 311 | D>N | cosmic curated | |||
rs1560029351 | 312 | D>G | Ensembl | |||
rs774449728 | 312 | D>N | ExAC gnomAD | |||
TCGA novel | 313 | K>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs1171083382 | 313 | K>N | gnomAD | |||
rs772332220 | 314 | N>D | ExAC gnomAD | |||
TCGA novel | 314 | N>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV54005699 COSV54005865 | 315 | S>F | cosmic curated | |||
COSV105000772 | 317 | E>K | cosmic curated | |||
COSV54005175 | 318 | K>R | cosmic curated | |||
TCGA novel | 318 | K>R | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
rs969375033 | 319 | G>C | TOPMed gnomAD | |||
rs1437960542 | 319 | G>D | TOPMed | |||
rs1227626236 | 320 | P>L | gnomAD | |||
COSV54007041 | 320 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1336590399 | 322 | E>D | gnomAD | |||
rs1464216101 | 322 | E>G | TOPMed gnomAD | |||
rs1273596032 | 322 | E>K | gnomAD | |||
rs1464216101 | 322 | E>V | TOPMed gnomAD | |||
rs775661593 | 323 | A>D | ExAC TOPMed gnomAD | |||
rs775661593 | 323 | A>G | ExAC TOPMed gnomAD | |||
COSV54006167 | 325 | P>L | cosmic curated | |||
rs761169523 | 328 | L>P | ExAC TOPMed gnomAD | |||
rs764353523 | 329 | D>G | ExAC gnomAD | |||
rs2108552715 | 330 | L>I | Ensembl | |||
rs371737311 | 331 | T>I | ESP TOPMed gnomAD | |||
TCGA novel | 332 | T>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs374722004 | 332 | T>M | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | ||
rs762230781 | 333 | N>K | ExAC gnomAD | |||
COSV105000809 | 334 | P>L | cosmic curated | |||
COSV105000805 | 334 | P>S | cosmic curated | |||
rs143600252 | 335 | Q>E | ESP ExAC TOPMed gnomAD | |||
COSV99409031 | 335 | Q>H | cosmic curated | |||
COSV54005683 | 336 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV104593793 | 336 | G>K | cosmic curated | |||
rs757958591 COSV54005394 | 336 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC NCI-TCGA Cosmic cosmic curated | ||
COSV54005383 COSV54006487 | 337 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV54005383 COSV54006487 | 337 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs999869267 | 338 | T>N | TOPMed | |||
COSV54007363 | 338 | T>P | cosmic curated | |||
rs1170391527 | 339 | L>R | gnomAD | |||
rs551865573 | 340 | D>A | ExAC TOPMed gnomAD | |||
rs551865573 | 340 | D>G | ExAC TOPMed gnomAD | |||
COSV104593808 | 340 | D>N | cosmic curated | |||
rs1718140988 | 340 | D>Y | TOPMed | |||
COSV54006398 | 341 | I>N | cosmic curated | |||
COSV105000778 | 342 | S>F | cosmic curated | |||
rs1446799495 | 342 | S>Y | TOPMed gnomAD | |||
rs148071644 | 344 | L>F | ESP ExAC TOPMed gnomAD | |||
rs148071644 | 344 | L>V | ESP ExAC TOPMed gnomAD | |||
TCGA novel | 345 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV108077489 | 347 | E>D | cosmic curated | |||
rs1718143568 | 348 | P>L | Ensembl | |||
rs140821787 | 348 | P>S | ESP ExAC TOPMed gnomAD | |||
rs140821787 | 348 | P>T | ESP ExAC TOPMed gnomAD | |||
rs1718144484 | 349 | M>T | TOPMed | |||
rs1175825564 | 349 | M>V | Ensembl | |||
COSV99408895 | 352 | K>N | cosmic curated | |||
TCGA novel | 353 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs745990842 | 354 | V>M | ExAC gnomAD | |||
rs1579059181 | 355 | V>G | Ensembl | |||
rs768857199 | 357 | P>L | ExAC TOPMed gnomAD | |||
COSV104593791 rs1718148566 | 357 | P>S | cosmic curated Ensembl | |||
rs1718149236 | 358 | F>V | TOPMed | |||
rs934455550 | 359 | P>L | TOPMed gnomAD | |||
VAR_049062 rs7999 | 360 | K>R | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
COSV54007198 | 360 | K>T | cosmic curated | |||
COSV105000807 | 361 | E>K | cosmic curated | |||
rs1240284661 | 361 | E>Q | TOPMed gnomAD | |||
rs1718152047 | 362 | K>N | TOPMed | |||
rs1170972360 | 363 | A>P | gnomAD | |||
rs1170972360 | 363 | A>S | gnomAD | |||
COSV54005819 rs765892584 | 364 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
rs765892584 | 364 | R>G | ExAC TOPMed gnomAD | |||
COSV54004568 rs748755333 | 364 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
rs765892584 | 364 | R>S | ExAC TOPMed gnomAD | |||
COSV99408864 | 366 | A>D | cosmic curated | |||
rs765970377 | 368 | C>W | ExAC TOPMed gnomAD | |||
rs980755621 | 369 | P>L | TOPMed gnomAD | |||
rs1579059328 | 371 | P>A | TOPMed | |||
COSV54004944 | 371 | P>S | cosmic curated | |||
rs1229157154 | 373 | Q>H | TOPMed gnomAD | |||
COSV54005658 | 374 | N>T | cosmic curated | |||
rs754587475 | 375 | A>D | ExAC TOPMed gnomAD | |||
TCGA novel | 375 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV54005413 rs754587475 | 375 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
rs1718156953 | 376 | S>T | Ensembl | |||
COSV99409112 | 377 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV99408974 | 378 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs116030393 | 379 | V>A | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs2108553461 | 379 | V>I | Ensembl | |||
rs1718158495 | 380 | L>F | Ensembl | |||
COSV54006970 rs552370206 | 381 | P>L | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
COSV54005322 | 381 | P>Q | cosmic curated | |||
rs1718158818 | 381 | P>S | TOPMed | |||
rs2108553560 | 382 | P>L | Ensembl | |||
COSV54005475 | 382 | P>R | cosmic curated | |||
COSV54005168 rs749212042 | 383 | *>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic dbSNP | ||
rs1718160260 | 383 | *>G | TOPMed | |||