Q96NJ3 · ZN285_HUMAN
- ProteinZinc finger protein 285
- GeneZNF285
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids590 (go to sequence)
- Protein existenceEvidence at protein level
- Annotation score3/5
Variants
Filter Consequence
Filter Provenance
Variant ID(s) | Position(s) | Change | Description | Clinical significance | Provenance | |
---|---|---|---|---|---|---|
COSV58408148 | 1 | M>? | cosmic curated | |||
rs1971295604 | 2 | I>V | TOPMed | |||
rs1229970501 | 3 | K>E | gnomAD | |||
rs1971295484 | 3 | K>T | gnomAD | |||
rs2123287027 | 5 | Q>* | Ensembl | |||
rs1379878978 | 5 | Q>H | gnomAD | |||
COSV58411392 | 5 | Q>K | cosmic curated | |||
rs1568389715 | 5 | Q>P | Ensembl | |||
rs764387434 | 7 | R>K | ExAC | |||
rs775608752 | 9 | T>I | ExAC gnomAD | |||
rs1303731256 | 9 | T>S | TOPMed gnomAD | |||
rs767991900 | 10 | F>L | ExAC TOPMed gnomAD | |||
rs1171331232 | 11 | K>E | gnomAD | |||
rs1441056835 | 12 | D>G | gnomAD | |||
COSV107374186 rs1971213294 | 12 | D>N | cosmic curated Ensembl | |||
rs1380329009 | 13 | V>A | gnomAD | |||
rs1425013296 | 14 | A>T | TOPMed | |||
COSV106439992 rs760079357 | 15 | V>G | cosmic curated ExAC gnomAD | |||
rs1971212971 | 15 | V>L | Ensembl | |||
rs1568387495 | 16 | V>A | gnomAD | |||
rs749677045 | 17 | F>I | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
COSV58411216 rs749677045 | 17 | F>L | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | ||
COSV108156506 | 18 | T>I | cosmic curated | |||
rs572650351 | 18 | T>P | 1000Genomes ExAC TOPMed gnomAD | |||
TCGA novel | 19 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs144398629 | 19 | K>R | ESP gnomAD | |||
rs1971212448 | 20 | E>K | Ensembl | |||
COSV58409266 | 21 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV58408057 | 22 | L>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1200888564 | 22 | L>V | gnomAD | |||
rs1599961953 | 23 | A>T | TOPMed | |||
rs1278517728 | 24 | L>P | TOPMed gnomAD | |||
rs769556303 | 24 | L>V | ExAC gnomAD | |||
rs1449095604 | 26 | D>G | TOPMed gnomAD | |||
COSV58408305 | 26 | D>H | cosmic curated | |||
rs144077949 | 26 | D>N | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs754932342 | 27 | K>E | ExAC TOPMed gnomAD | |||
COSV58409077 | 27 | K>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs113465092 | 28 | A>S | ExAC gnomAD | |||
TCGA novel rs113465092 | 28 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA ExAC gnomAD | ||
COSV58410726 | 28 | A>V | cosmic curated | |||
COSV58411410 | 29 | Q>H | cosmic curated | |||
rs1237541426 | 29 | Q>R | gnomAD | |||
rs138495987 | 30 | I>M | ESP ExAC gnomAD | |||
rs73560639 | 31 | N>K | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs1971211287 | 32 | L>P | Ensembl | |||
rs1338534455 | 34 | Q>E | TOPMed gnomAD | |||
TCGA novel | 35 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
TCGA novel | 36 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV58410582 | 36 | V>L | cosmic curated | |||
rs764212551 | 37 | M>I | ExAC gnomAD | |||
rs1971210884 | 37 | M>V | TOPMed | |||
TCGA novel | 38 | L>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV58410532 | 39 | E>Q | cosmic curated | |||
COSV58411701 | 40 | N>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1157583940 | 41 | F>L | TOPMed gnomAD | |||
rs1252425227 | 42 | R>K | TOPMed | |||
rs1252425227 | 42 | R>T | TOPMed | |||
COSV58408610 | 44 | L>F | cosmic curated | |||
COSV58410702 | 44 | L>P | cosmic curated | |||
rs767545805 | 45 | M>L | ExAC TOPMed gnomAD | |||
rs759636023 | 46 | L>S | ExAC TOPMed gnomAD | |||
COSV58408385 | 47 | V>* | cosmic curated | |||
rs1255086554 | 47 | V>A | gnomAD | |||
rs1255086554 | 47 | V>G | gnomAD | |||
rs797018741 | 48 | R>G | Ensembl | |||
rs1418471683 | 50 | G>A | TOPMed gnomAD | |||
COSV108156496 | 50 | G>E | cosmic curated | |||
COSV58409435 rs771876937 | 50 | G>R | cosmic curated ExAC TOPMed gnomAD | |||
COSV58409115 | 52 | K>* | cosmic curated | |||
COSV58410027 rs375736113 | 52 | K>E | cosmic curated ESP ExAC TOPMed gnomAD | |||
rs778844900 | 55 | I>S | ExAC | |||
rs924081970 | 56 | L>F | TOPMed gnomAD | |||
rs74919389 | 57 | N>H | Ensembl | |||
rs1378297499 | 57 | N>S | gnomAD | |||
COSV58411271 | 58 | L>F | cosmic curated | |||
rs979423135 | 58 | L>I | TOPMed gnomAD | |||
COSV100450224 | 59 | Q>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs117953191 | 60 | A>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely benign (Ensembl) | ExAC TOPMed dbSNP gnomAD | |
COSV58408111 rs117953191 | 60 | A>G | Likely benign (Ensembl) | cosmic curated ExAC TOPMed gnomAD | ||
COSV58409160 | 60 | A>T | cosmic curated | |||
COSV100450142 | 61 | K>* | cosmic curated | |||
rs373222606 | 61 | K>E | ESP ExAC TOPMed gnomAD | |||
rs780222775 | 61 | K>N | ExAC gnomAD | |||
COSV58407881 rs114985922 | 61 | K>T | cosmic curated ExAC gnomAD | |||
rs1346756164 | 62 | G>E | TOPMed gnomAD | |||
rs758437967 COSV58409763 | 62 | G>R | ExAC TOPMed gnomAD cosmic curated | |||
rs758437967 | 62 | G>W | ExAC TOPMed gnomAD | |||
rs750889173 | 64 | S>N | ExAC gnomAD | |||
rs985681296 | 66 | L>F | TOPMed | |||
COSV58410103 rs765848183 | 67 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
rs1333310483 | 68 | Q>K | gnomAD | |||
COSV58408162 rs1447375392 | 69 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | ||
rs1447375392 | 69 | E>K | gnomAD | |||
rs1326546061 | 71 | L>R | gnomAD | |||
TCGA novel | 71 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV58409998 | 72 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV58408241 | 74 | W>* | cosmic curated | |||
COSV58408241 COSV58409897 | 74 | W>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
TCGA novel rs1599956538 | 74 | W>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA TOPMed gnomAD | ||
rs1415953362 | 75 | Q>* | TOPMed gnomAD | |||
rs763818931 COSV105891252 | 75 | Q>H | ExAC TOPMed gnomAD cosmic curated | |||
rs1415953362 | 75 | Q>K | TOPMed gnomAD | |||
COSV58411176 | 75 | Q>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV58411752 | 76 | I>T | cosmic curated | |||
COSV100450084 rs1173220067 | 77 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | ||
rs572775397 | 77 | W>S | 1000Genomes ExAC TOPMed gnomAD | |||
rs150316918 | 78 | K>E | ESP ExAC TOPMed gnomAD | |||
rs767007189 | 80 | R>G | ExAC TOPMed gnomAD | |||
rs73039940 | 80 | R>K | 1000Genomes ESP ExAC TOPMed gnomAD | |||
COSV58408840 rs73039940 | 80 | R>M | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
TCGA novel | 81 | I>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV58409755 | 81 | I>M | cosmic curated | |||
rs774208313 | 81 | I>S | ExAC TOPMed gnomAD | |||
COSV58409878 rs199905905 | 82 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
rs1231658384 | 82 | R>W | TOPMed gnomAD | |||
rs749067872 | 83 | D>H | ExAC TOPMed gnomAD | |||
COSV58411009 rs749067872 | 83 | D>N | cosmic curated ExAC TOPMed gnomAD | |||
rs1416323404 | 83 | D>V | TOPMed gnomAD | |||
rs749067872 | 83 | D>Y | ExAC TOPMed gnomAD | |||
COSV58407825 rs773039061 | 85 | T>S | cosmic curated ExAC gnomAD | |||
rs768729115 | 86 | V>G | ExAC TOPMed gnomAD | |||
rs747213869 | 87 | S>C | ExAC gnomAD | |||
rs747213869 | 87 | S>G | ExAC gnomAD | |||
rs1971125910 | 90 | Y>C | TOPMed gnomAD | |||
rs2123264646 | 92 | V>G | Ensembl | |||
COSV58411042 rs140033872 | 92 | V>L | cosmic curated ExAC TOPMed gnomAD | |||
COSV58407833 rs140033872 | 92 | V>M | cosmic curated ExAC TOPMed gnomAD | |||
COSV58410780 | 93 | N>K | cosmic curated | |||
rs1971125466 | 93 | N>Y | TOPMed | |||
COSV105226046 rs757891177 | 94 | L>F | cosmic curated ExAC TOPMed gnomAD | |||
rs2078276904 | 94 | L>P | TOPMed | |||
rs757891177 | 94 | L>V | ExAC TOPMed gnomAD | |||
COSV106440043 | 96 | E>K | cosmic curated | |||
rs1971125139 | 97 | E>G | TOPMed gnomAD | |||
COSV58407830 rs1971125217 | 97 | E>Q | cosmic curated TOPMed | |||
COSV107374292 | 98 | C>G | cosmic curated | |||
COSV105226043 rs754226311 | 98 | C>Y | cosmic curated ExAC TOPMed gnomAD | |||
COSV58408624 | 99 | S>F | cosmic curated | |||
rs143200727 | 101 | H>D | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | ||
rs1971124759 | 101 | H>L | Ensembl | |||
rs143200727 | 101 | H>N | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | ||
rs1971124759 | 101 | H>R | Ensembl | |||
COSV107374177 | 104 | D>H | cosmic curated | |||
COSV58410633 | 104 | D>N | cosmic curated | |||
rs1362564897 | 104 | D>Y | gnomAD | |||
rs767081062 | 105 | V>D | ExAC TOPMed gnomAD | |||
rs767081062 | 105 | V>G | ExAC TOPMed gnomAD | |||
COSV58410573 | 107 | L>F | cosmic curated | |||
COSV58409587 rs1971124369 | 107 | L>P | cosmic curated Ensembl | |||
COSV105225957 rs759084265 | 107 | L>V | cosmic curated ExAC gnomAD | |||
COSV58407875 rs79240579 | 108 | S>C | cosmic curated ExAC TOPMed gnomAD | |||
rs1473337408 | 108 | S>N | TOPMed gnomAD | |||
rs79240579 | 108 | S>R | ExAC TOPMed gnomAD | |||
rs369576646 | 109 | E>G | ESP ExAC TOPMed gnomAD | |||
COSV58408904 | 110 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs762916428 | 110 | E>D | ExAC TOPMed gnomAD | |||
rs1971124080 | 110 | E>G | TOPMed | |||
rs1178296861 | 111 | W>* | gnomAD | |||
rs146498662 | 112 | A>E | ESP ExAC TOPMed gnomAD | |||
rs773164147 | 112 | A>P | ExAC TOPMed gnomAD | |||
COSV58411711 rs773164147 | 112 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
rs146498662 | 112 | A>V | ESP ExAC TOPMed gnomAD | |||
COSV58410523 rs1971123579 | 113 | G>D | cosmic curated Ensembl | |||
rs747906585 | 113 | G>S | ExAC gnomAD | |||
COSV58410012 | 114 | I>M | cosmic curated | |||
rs1229897917 | 114 | I>S | gnomAD | |||
COSV58409173 rs142665590 | 114 | I>V | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
COSV58408350 rs1379664639 | 115 | S>F | cosmic curated TOPMed gnomAD | |||
TCGA novel | 115 | S>L | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
rs1379664639 | 115 | S>Y | TOPMed gnomAD | |||
COSV58407854 | 117 | Q>E | cosmic curated | |||
rs1266132283 | 117 | Q>H | gnomAD | |||
rs368824064 | 117 | Q>L | ESP ExAC TOPMed gnomAD | |||
rs368824064 | 117 | Q>P | ESP ExAC TOPMed gnomAD | |||
rs368824064 | 117 | Q>R | ESP ExAC TOPMed gnomAD | |||
rs1221153037 | 118 | I>N | TOPMed gnomAD | |||
rs1221153037 | 118 | I>T | TOPMed gnomAD | |||
COSV58410159 | 119 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1440754233 | 120 | E>A | TOPMed | |||
COSV58409006 | 120 | E>D | cosmic curated | |||
TCGA novel | 120 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs140316520 | 121 | N>K | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs779177396 | 121 | N>S | ExAC gnomAD | |||
COSV100450237 rs538330391 | 122 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes dbSNP | ||
COSV100450244 | 123 | N>K | cosmic curated | |||
rs1343448036 | 124 | Y>C | TOPMed gnomAD | |||
rs201529972 | 125 | V>L | 1000Genomes ExAC TOPMed gnomAD | |||
COSV105226036 rs756434989 | 126 | V>A | cosmic curated ExAC TOPMed gnomAD | |||
rs1406417881 | 126 | V>I | gnomAD | |||
COSV100449912 | 128 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1163281676 | 128 | A>V | gnomAD | |||
rs1307536485 | 129 | I>T | gnomAD | |||
rs1568385083 | 129 | I>V | Ensembl | |||
rs1971122037 | 130 | I>N | TOPMed | |||
rs1599956191 | 132 | N>S | Ensembl | |||
rs1478986817 | 133 | Q>E | gnomAD | |||
rs1229855885 | 133 | Q>R | TOPMed | |||
rs753070130 | 134 | D>G | ExAC TOPMed gnomAD | |||
rs1264961660 | 134 | D>N | TOPMed gnomAD | |||
rs2123264042 | 135 | I>M | Variant of uncertain significance (Ensembl) | Ensembl | ||
rs767187069 | 135 | I>V | ExAC gnomAD | |||
rs754634530 | 136 | T>P | ExAC gnomAD | |||
COSV105226033 | 137 | A>T | cosmic curated | |||
rs751036226 | 137 | A>V | ExAC TOPMed gnomAD | |||
TCGA novel | 138 | W>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs762471401 | 138 | W>S | ExAC gnomAD | |||
rs1568385044 | 139 | Q>H | TOPMed | |||
rs750298852 | 139 | Q>K | Likely benign (Ensembl) | ExAC TOPMed gnomAD | ||
rs1971121164 | 139 | Q>R | Ensembl | |||
rs765085331 | 140 | S>G | ExAC gnomAD | |||
rs145772874 | 140 | S>N | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs1366388543 | 140 | S>R | TOPMed gnomAD | |||
rs1599956099 | 142 | T>I | TOPMed | |||
rs1295528325 | 143 | Q>H | gnomAD | |||
rs375074313 | 143 | Q>K | 1000Genomes ESP ExAC TOPMed gnomAD | |||
COSV100450130 | 143 | Q>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV100449848 rs372780405 | 146 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC dbSNP gnomAD | ||
rs372780405 | 146 | T>N | ESP ExAC gnomAD | |||
rs1411338361 | 147 | P>L | TOPMed gnomAD | |||
rs1473009849 | 148 | E>K | TOPMed gnomAD | |||
rs1473009849 | 148 | E>Q | TOPMed gnomAD | |||
rs759794651 | 149 | S>* | ExAC TOPMed gnomAD | |||
COSV99044154 rs759794651 | 149 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
rs759794651 | 149 | S>W | ExAC TOPMed gnomAD | |||
rs749384507 | 150 | W>* | ExAC gnomAD | |||
COSV107374153 | 150 | W>R | cosmic curated | |||
rs1971120156 | 152 | K>N | TOPMed gnomAD | |||
COSV58410224 rs111667509 | 154 | N>K | cosmic curated ExAC gnomAD | |||
COSV100450050 | 154 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1467527305 | 154 | N>T | gnomAD | |||
rs770264097 | 155 | I>M | ExAC gnomAD | |||
rs1014615239 | 155 | I>T | TOPMed gnomAD | |||
rs1971119859 | 155 | I>V | TOPMed gnomAD | |||
rs113605259 | 156 | M>R | ExAC TOPMed gnomAD | |||
rs113605259 | 156 | M>T | ExAC TOPMed gnomAD | |||
rs1160376576 | 156 | M>V | gnomAD | |||
rs1599955991 | 157 | T>N | TOPMed gnomAD | |||
TCGA novel | 158 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs533729385 | 158 | E>G | 1000Genomes ExAC TOPMed gnomAD | |||
rs1192470410 | 158 | E>K | TOPMed gnomAD | |||
rs1252362171 | 159 | P>S | TOPMed gnomAD | |||
rs1252362171 | 159 | P>T | TOPMed gnomAD | |||
TCGA novel | 160 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs751163130 | 162 | S>F | ExAC TOPMed gnomAD | |||
COSV100449804 rs779695369 | 163 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
rs779695369 | 163 | Q>E | ExAC TOPMed gnomAD | |||
COSV108156528 | 163 | Q>H | cosmic curated | |||
COSV105226022 rs2123263621 | 164 | G>R | cosmic curated Ensembl | |||
COSV100449969 | 165 | R>I | cosmic curated | |||
rs139710134 | 166 | Y>C | ESP TOPMed gnomAD | |||
TCGA novel | 167 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV58409743 rs765204241 | 168 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC dbSNP gnomAD | ||
rs1971118364 | 168 | G>R | TOPMed | |||
rs1229794325 | 170 | Y>H | TOPMed gnomAD | |||
COSV58409544 | 171 | M>L | cosmic curated | |||
rs1333836362 | 171 | M>T | TOPMed gnomAD | |||
rs761703183 | 171 | M>V | ExAC TOPMed gnomAD | |||
COSV58409581 | 172 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV58408494 | 173 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV100449839 rs1267144616 | 173 | E>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP | ||
rs368793630 | 173 | E>K | ESP ExAC TOPMed gnomAD | |||
rs1401512817 | 174 | K>R | TOPMed gnomAD | |||
rs376769237 | 176 | Y>D | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | ||
rs376769237 | 176 | Y>H | Variant of uncertain significance (Ensembl) | 1000Genomes ESP ExAC TOPMed gnomAD | ||
rs145710160 | 178 | R>C | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs145710160 | 178 | R>G | 1000Genomes ESP ExAC TOPMed gnomAD | |||
COSV100449973 rs773215916 | 178 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
rs773215916 | 178 | R>P | ExAC TOPMed gnomAD | |||
rs145710160 | 178 | R>S | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs770305554 | 180 | Q>* | ExAC TOPMed gnomAD | |||
COSV58407805 | 180 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV58408555 | 181 | H>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1370568669 | 181 | H>R | TOPMed gnomAD | |||
COSV105225999 | 182 | D>N | cosmic curated | |||
rs1191701226 | 183 | D>N | gnomAD | |||
COSV58409570 rs748561574 | 184 | S>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
rs781733181 | 184 | S>R | ExAC gnomAD | |||
rs1195047197 | 185 | L>V | TOPMed gnomAD | |||
rs140177640 | 186 | S>N | 1000Genomes ExAC gnomAD | |||
rs147525213 | 186 | S>R | 1000Genomes ExAC TOPMed gnomAD | |||
rs143238843 | 187 | W>* | ESP ExAC | |||
rs1211788711 | 188 | T>A | gnomAD | |||
rs778248644 | 189 | S>* | ExAC gnomAD | |||
COSV100449959 | 189 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1971116138 | 190 | C>* | gnomAD | |||
rs148342841 | 190 | C>G | 1000Genomes ExAC TOPMed gnomAD | |||
rs148342841 | 190 | C>R | 1000Genomes ExAC TOPMed gnomAD | |||
rs144514275 | 190 | C>Y | 1000Genomes ExAC gnomAD | |||
rs764135758 | 191 | D>V | ExAC gnomAD | |||
COSV58410353 | 192 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs755969399 | 193 | H>L | ExAC gnomAD | |||
rs902316370 | 193 | H>Q | TOPMed gnomAD | |||
rs755969399 | 193 | H>R | ExAC gnomAD | |||
rs1971115675 | 194 | E>K | TOPMed | |||
rs1971115675 | 194 | E>Q | TOPMed | |||
COSV58407891 rs1971115596 | 195 | S>F | cosmic curated gnomAD | |||
rs752599169 | 196 | Q>H | ExAC TOPMed gnomAD | |||
COSV105891259 | 197 | E>* | cosmic curated | |||
rs766688541 | 197 | E>K | ExAC gnomAD | |||
rs1971115325 | 198 | C>R | Ensembl | |||
rs751453344 | 198 | C>Y | Ensembl | |||
rs1282600626 | 199 | K>E | TOPMed gnomAD | |||
rs1374344605 | 199 | K>I | gnomAD | |||
COSV58408071 | 200 | G>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV58411766 rs140032194 | 200 | G>E | cosmic curated Ensembl | |||
rs763126590 | 201 | E>G | ExAC gnomAD | |||
COSV100449886 | 202 | D>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV100449961 rs773513335 | 203 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
rs773513335 | 203 | P>R | ExAC gnomAD | |||
rs1180980256 | 203 | P>S | gnomAD | |||
rs1180980256 | 203 | P>T | gnomAD | |||
rs533076425 | 204 | G>S | ExAC TOPMed gnomAD | |||
rs1971114347 | 205 | R>G | TOPMed gnomAD | |||
rs761964602 | 206 | H>D | ExAC gnomAD | |||
rs1971114101 | 206 | H>L | Ensembl | |||
rs761964602 | 206 | H>Y | ExAC gnomAD | |||
rs1971114041 | 207 | P>A | TOPMed | |||
COSV58409473 rs1278422324 | 207 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | ||
rs1971113903 | 208 | S>G | TOPMed gnomAD | |||
rs2571089 | 208 | S>I | 1000Genomes ESP ExAC TOPMed gnomAD | |||
VAR_057972 rs2571089 | 208 | S>N | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
rs2571089 | 208 | S>T | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs372299793 | 209 | C>* | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs1351478324 | 209 | C>Y | gnomAD | |||
rs1323910797 | 210 | G>A | gnomAD | |||
rs551385384 | 210 | G>R | TOPMed gnomAD | |||
rs551385384 | 210 | G>W | TOPMed gnomAD | |||
rs771679800 | 211 | K>R | ExAC TOPMed gnomAD | |||
rs765286491 | 213 | L>F | TOPMed | |||
rs745464239 | 214 | G>D | ExAC gnomAD | |||
COSV58408412 | 215 | M>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1050184566 | 215 | M>K | TOPMed | |||
rs1971113054 | 215 | M>V | TOPMed | |||
rs1310690385 | 216 | K>* | gnomAD | |||
rs1383470157 | 216 | K>T | gnomAD | |||
COSV58408096 | 217 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV58407943 rs187757032 | 218 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC TOPMed dbSNP gnomAD | ||
COSV58411348 | 220 | E>D | cosmic curated | |||
rs60800862 | 220 | E>G | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs767382640 | 221 | K>Q | ExAC TOPMed gnomAD | |||
rs973038894 | 221 | K>R | TOPMed gnomAD | |||
COSV100449874 rs775371839 | 222 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
COSV58408265 rs750553123 | 222 | R>H | cosmic curated ExAC TOPMed gnomAD | |||
COSV58410070 | 223 | N>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV100449953 rs182902713 | 224 | A>V | cosmic curated 1000Genomes ExAC gnomAD | |||
rs910030953 | 225 | A>S | TOPMed gnomAD | |||
rs1971111713 | 225 | A>V | TOPMed | |||
rs1489781704 | 226 | H>D | TOPMed gnomAD | |||
COSV104640398 | 226 | H>Y | cosmic curated | |||
rs1274319947 | 227 | V>A | TOPMed gnomAD | |||
COSV58408938 | 227 | V>L | cosmic curated | |||
rs1233125913 | 228 | L>* | TOPMed gnomAD | |||
rs566750935 | 229 | P>T | 1000Genomes ExAC TOPMed gnomAD | |||
rs1229112328 | 231 | P>H | gnomAD | |||
COSV104640378 | 231 | P>L | cosmic curated | |||
rs1291068229 | 231 | P>S | gnomAD | |||
COSV58411479 | 231 | P>T | cosmic curated | |||
rs373787402 | 233 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely benign (Ensembl) | ExAC TOPMed dbSNP gnomAD | |
rs373787402 | 233 | P>T | Likely benign (Ensembl) | ExAC TOPMed gnomAD | ||
rs2123262568 | 234 | C>Y | Ensembl | |||
rs750087619 | 236 | N>D | gnomAD | |||
rs1379999698 | 237 | C>Y | gnomAD | |||
rs951767118 | 238 | G>A | TOPMed gnomAD | |||
rs951767118 | 238 | G>E | TOPMed gnomAD | |||
TCGA novel | 239 | V>G | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
rs1480438109 | 239 | V>L | TOPMed gnomAD | |||
rs1480438109 | 239 | V>M | TOPMed gnomAD | |||
COSV107374163 | 240 | A>G | cosmic curated | |||
rs776001232 | 240 | A>P | ExAC TOPMed gnomAD | |||
rs776001232 | 240 | A>S | ExAC TOPMed gnomAD | |||
COSV100449995 | 240 | A>T | cosmic curated | |||
rs867604553 | 240 | A>V | TOPMed | |||
rs1485082108 | 241 | F>L | TOPMed | |||
rs1326485239 | 243 | D>G | TOPMed gnomAD | |||
rs772368639 | 244 | D>V | ExAC gnomAD | |||
rs746252493 | 245 | T>I | ExAC TOPMed gnomAD | |||
rs746252493 | 245 | T>R | ExAC TOPMed gnomAD | |||
COSV107374168 rs1971109974 | 247 | P>L | cosmic curated gnomAD | |||
COSV105226047 | 247 | P>S | cosmic curated | |||
rs990870614 | 248 | H>D | TOPMed gnomAD | |||
rs1372696154 | 248 | H>Q | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | ||
COSV58408040 rs1475836528 | 248 | H>R | cosmic curated gnomAD | |||
rs990870614 | 248 | H>Y | TOPMed gnomAD | |||
COSV58408034 rs1191167563 | 249 | V>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated dbSNP gnomAD | ||
TCGA novel | 249 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV100449829 | 250 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV58410589 | 251 | H>Y | cosmic curated | |||
COSV100449909 rs1190467719 | 252 | S>N | cosmic curated gnomAD | |||
COSV104640376 | 256 | G>E | cosmic curated | |||
rs1433309031 COSV58409207 | 256 | G>R | TOPMed gnomAD cosmic curated | |||
COSV58409634 | 257 | E>K | cosmic curated | |||
COSV58409634 | 257 | E>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
COSV105226060 | 258 | K>* | cosmic curated | |||
rs1262047424 | 258 | K>E | gnomAD | |||
rs547013878 | 258 | K>N | 1000Genomes ExAC gnomAD | |||
COSV58410752 | 259 | S>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1213548529 | 259 | S>F | TOPMed gnomAD | |||
rs1213548529 | 259 | S>Y | TOPMed gnomAD | |||
rs1971108989 | 260 | Y>C | Ensembl | |||
COSV100449888 | 261 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV100449991 | 262 | C>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1971108919 | 262 | C>Y | Ensembl | |||
COSV58411146 | 263 | D>N | cosmic curated | |||
COSV58411146 | 263 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs777467484 | 265 | Y>C | ExAC TOPMed gnomAD | |||
COSV100449966 | 266 | G>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs769461458 | 266 | G>A | ExAC TOPMed gnomAD | |||
COSV58409466 rs769461458 | 266 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
rs2123262183 | 267 | K>E | Ensembl | |||
COSV58408334 | 267 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1035110181 | 268 | N>I | TOPMed | |||
rs1971108512 | 268 | N>K | TOPMed | |||
COSV58409659 | 269 | F>L | cosmic curated | |||
rs2123262162 | 271 | Q>E | Ensembl | |||
COSV105891222 | 272 | S>I | cosmic curated | |||
rs1269228266 | 273 | Q>E | gnomAD | |||
COSV58410999 | 274 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV58409012 | 275 | L>F | cosmic curated | |||
rs1971108372 | 276 | I>T | TOPMed | |||
rs372613459 | 277 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ESP ExAC TOPMed dbSNP gnomAD | ||
rs754661432 | 278 | H>R | ExAC gnomAD | |||
COSV100449987 | 278 | H>Y | cosmic curated | |||
rs2123262094 | 279 | C>R | Ensembl | |||
rs1971108028 | 279 | C>Y | TOPMed | |||
COSV107374170 | 282 | H>D | cosmic curated | |||
COSV58411255 | 283 | S>F | cosmic curated | |||
COSV58408440 COSV58409366 | 284 | G>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV58409366 | 284 | G>D | cosmic curated | |||
COSV58409481 rs61358479 | 285 | K>E | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs1219933631 | 287 | P>A | TOPMed gnomAD | |||
COSV58410399 rs1166354512 | 287 | P>L | cosmic curated gnomAD | |||
COSV100449834 rs146930422 | 288 | Y>C | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs1395692056 | 289 | E>D | TOPMed gnomAD | |||
COSV58410055 | 289 | E>K | cosmic curated | |||
rs760760025 | 290 | F>I | ExAC gnomAD | |||
rs760760025 | 290 | F>V | ExAC gnomAD | |||
rs1971107231 | 291 | H>D | TOPMed | |||
COSV100449965 | 292 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs531028922 | 292 | E>K | 1000Genomes ExAC gnomAD | |||
COSV105891258 | 292 | E>Q | cosmic curated | |||
COSV105226024 | 293 | W>* | cosmic curated | |||
rs1183075800 | 294 | P>S | TOPMed gnomAD | |||
rs1437598914 | 295 | M>L | TOPMed gnomAD | |||
rs1010778506 | 295 | M>R | TOPMed gnomAD | |||
rs1437598914 | 295 | M>V | TOPMed gnomAD | |||
rs867041174 | 296 | G>C | TOPMed gnomAD | |||
rs867041174 | 296 | G>S | TOPMed gnomAD | |||
rs1193650102 | 297 | C>Y | gnomAD | |||
rs1192495569 | 298 | K>R | TOPMed | |||
rs759810632 | 299 | Q>E | ExAC TOPMed gnomAD | |||
COSV58409501 | 300 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1472026577 | 300 | S>N | TOPMed gnomAD | |||
COSV58408322 rs1413850790 | 300 | S>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed dbSNP gnomAD | ||
rs1280356035 | 301 | S>* | gnomAD | |||
rs1971106205 | 301 | S>A | Ensembl | |||
rs1280356035 | 301 | S>L | gnomAD | |||
rs770460274 | 302 | D>E | ExAC TOPMed gnomAD | |||
rs774827964 | 302 | D>H | ExAC TOPMed gnomAD | |||
COSV58410308 | 302 | D>V | cosmic curated | |||
rs1470580181 | 303 | L>I | gnomAD | |||
rs773023493 | 304 | P>H | ExAC gnomAD | |||
rs773023493 | 304 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC dbSNP gnomAD | ||
COSV58408282 rs368902312 | 304 | P>S | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs1334889396 | 305 | R>K | TOPMed gnomAD | |||
COSV58410005 | 307 | Q>* | cosmic curated | |||
rs1436771671 | 307 | Q>E | gnomAD | |||
COSV100450115 COSV58410005 | 307 | Q>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV58409394 | 308 | K>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1173142268 | 309 | V>L | gnomAD | |||
COSV105226023 | 310 | S>F | cosmic curated | |||
rs781270913 | 310 | S>P | ExAC gnomAD | |||
rs746754563 | 311 | S>L | ExAC TOPMed gnomAD | |||
rs541504637 | 312 | G>E | 1000Genomes ExAC gnomAD | |||
TCGA novel | 312 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV58407905 | 313 | D>E | cosmic curated | |||
rs777979450 | 313 | D>G | ExAC TOPMed gnomAD | |||
rs754004084 | 313 | D>H | ExAC gnomAD | |||
rs754004084 | 313 | D>N | ExAC gnomAD | |||
rs777979450 | 313 | D>V | ExAC TOPMed gnomAD | |||
COSV58408173 | 314 | K>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1971104301 | 316 | Y>C | TOPMed | |||
rs1461075650 | 318 | C>S | TOPMed gnomAD | |||
COSV100449806 rs1461075650 | 318 | C>Y | cosmic curated TOPMed gnomAD | |||
rs1971104113 | 319 | K>* | TOPMed gnomAD | |||
COSV58411542 | 320 | E>* | cosmic curated | |||
rs867666998 | 320 | E>A | Ensembl | |||
COSV58407985 | 320 | E>K | cosmic curated | |||
rs756184719 | 320 | E>Q | ExAC TOPMed gnomAD | |||
rs752836056 | 321 | C>R | ExAC gnomAD | |||
rs752836056 | 321 | C>S | ExAC gnomAD | |||
rs1286273588 | 321 | C>W | gnomAD | |||
rs1971103777 | 321 | C>Y | Ensembl | |||
rs767888910 | 322 | G>S | ExAC gnomAD | |||
rs1971103564 | 323 | K>R | Ensembl | |||
COSV58408828 | 324 | G>A | cosmic curated | |||
rs1971103506 | 324 | G>S | TOPMed | |||
COSV58409124 | 325 | F>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1170109038 | 325 | F>V | gnomAD | |||
COSV58410736 | 326 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs752039631 | 326 | R>S | ExAC gnomAD | |||
COSV100449808 rs766718884 | 327 | R>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
COSV58408327 rs140349335 | 327 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
rs772929619 | 328 | S>N | Likely benign (Ensembl) | ExAC TOPMed gnomAD | ||
rs151191161 | 328 | S>R | ESP ExAC TOPMed gnomAD | |||
rs1253583973 | 329 | S>A | TOPMed gnomAD | |||
COSV58407935 COSV58408858 rs1346971028 | 329 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | ||
COSV58408858 | 329 | S>Y | cosmic curated | |||
COSV58411206 | 330 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV58408731 rs1971102659 | 331 | L>F | cosmic curated gnomAD | |||
rs1474093235 | 331 | L>P | TOPMed gnomAD | |||
COSV58411130 | 332 | H>D | cosmic curated | |||
rs768446748 | 332 | H>R | ExAC gnomAD | |||
COSV58411130 COSV58411330 rs2123261351 | 332 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl | ||
rs151111866 | 334 | H>Q | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs141120391 | 334 | H>R | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs775309426 | 334 | H>Y | ExAC gnomAD | |||
rs1418194995 | 335 | H>R | TOPMed gnomAD | |||
COSV58409602 rs201861898 | 336 | R>* | cosmic curated ExAC TOPMed gnomAD | |||
rs201861898 | 336 | R>G | ExAC TOPMed gnomAD | |||
rs1481989595 | 336 | R>L | gnomAD | |||
COSV58408848 rs1481989595 | 336 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated gnomAD | ||
TCGA novel | 337 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs1568384093 | 338 | H>R | Ensembl | |||
COSV58411460 | 338 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1971101749 | 339 | T>A | TOPMed | |||
rs781295529 | 339 | T>R | ExAC gnomAD | |||
rs1599954654 COSV58409459 | 340 | G>E | Ensembl cosmic curated | |||
rs1266163812 | 340 | G>R | TOPMed gnomAD | |||
rs1599954654 | 340 | G>V | Ensembl | |||
rs1971101291 | 341 | E>* | TOPMed | |||
rs1971101291 | 341 | E>Q | TOPMed | |||
rs1971101222 | 341 | E>V | TOPMed | |||
rs1599954636 | 342 | M>I | Ensembl | |||
COSV58409416 | 342 | M>K | cosmic curated | |||
rs200028464 | 343 | P>L | 1000Genomes ExAC TOPMed gnomAD | |||
rs200028464 | 343 | P>R | 1000Genomes ExAC TOPMed gnomAD | |||
rs1568384059 | 347 | D>E | Ensembl | |||
COSV58409715 rs202025427 | 347 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Likely benign (Ensembl) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | |
rs145215668 | 348 | E>A | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | ||
rs145215668 | 348 | E>G | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | ||
rs1364201580 | 348 | E>K | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | ||
rs1364201580 | 348 | E>Q | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | ||
rs145215668 | 348 | E>V | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | ||
rs764961346 | 349 | C>Y | 1000Genomes ExAC gnomAD | |||
rs1462307043 | 350 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | ||
rs143777900 | 350 | G>W | 1000Genomes ExAC TOPMed gnomAD | |||
COSV104401666 | 351 | K>E | cosmic curated | |||
rs1971099959 | 351 | K>R | TOPMed | |||
rs1421636336 | 352 | G>E | TOPMed gnomAD | |||
rs1163795453 | 352 | G>R | gnomAD | |||
COSV58411422 | 352 | G>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV100450173 rs1421168701 | 353 | F>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | ||
COSV58411585 rs1357628431 | 354 | G>A | cosmic curated TOPMed gnomAD | |||
COSV58408515 rs763608904 | 354 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
rs1971099423 | 355 | F>Y | Ensembl | |||
rs760109612 | 356 | R>S | ExAC gnomAD | |||
rs1971099281 | 357 | S>* | TOPMed | |||
COSV104640396 | 357 | S>L | cosmic curated | |||
rs1215415569 | 359 | L>I | TOPMed gnomAD | |||
rs185751610 | 360 | C>F | ExAC TOPMed gnomAD | |||
COSV58408228 rs185751610 | 360 | C>S | cosmic curated ExAC TOPMed gnomAD | |||
COSV58410438 rs185751610 | 360 | C>Y | cosmic curated ExAC TOPMed gnomAD | |||
COSV58411624 | 361 | I>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs1237801548 | 361 | I>S | TOPMed gnomAD | |||
COSV58411624 | 361 | I>V | cosmic curated | |||
rs376945458 | 362 | H>L | ESP ExAC TOPMed gnomAD | |||
rs376945458 | 362 | H>R | ESP ExAC TOPMed gnomAD | |||
COSV100449980 | 362 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1971098555 | 363 | Q>H | TOPMed | |||
rs1184690393 | 364 | G>R | Ensembl | |||
rs1389547366 | 364 | G>V | TOPMed | |||
rs1169229030 | 366 | H>R | TOPMed gnomAD | |||
rs1351826413 | 366 | H>Y | Ensembl | |||
rs1214119010 | 367 | T>K | TOPMed gnomAD | |||
rs1568383944 | 367 | T>S | Ensembl | |||
COSV100450127 | 368 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV58407859 rs193108868 | 368 | G>V | cosmic curated Ensembl | |||
rs755016704 | 369 | K>* | ExAC TOPMed gnomAD | |||
rs755016704 | 369 | K>Q | ExAC TOPMed gnomAD | |||
rs1333791321 | 369 | K>R | TOPMed | |||
TCGA novel | 371 | P>A | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
rs1568383924 | 371 | P>L | Ensembl | |||
rs747122380 | 372 | Y>C | ExAC gnomAD | |||
rs780594735 | 373 | K>N | ExAC gnomAD | |||
rs145353994 | 374 | C>S | ExAC TOPMed gnomAD | |||
COSV58408462 | 375 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs750785729 | 376 | E>G | ExAC gnomAD | |||
rs554831372 | 376 | E>Q | 1000Genomes | |||
rs765655978 | 377 | C>F | ExAC TOPMed gnomAD | |||
rs765655978 | 377 | C>Y | ExAC TOPMed gnomAD | |||
rs372504763 | 378 | G>A | ESP ExAC TOPMed gnomAD | |||
COSV106440000 | 378 | G>W | cosmic curated | |||
rs1229789042 | 379 | K>E | TOPMed | |||
TCGA novel | 379 | K>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs753470924 | 380 | G>A | Variant of uncertain significance (Ensembl) | ExAC gnomAD | ||
TCGA novel | 380 | G>A | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
COSV108156512 | 380 | G>D | cosmic curated | |||
COSV58410619 rs369340847 | 380 | G>R | cosmic curated TOPMed gnomAD | |||
rs369340847 | 380 | G>S | TOPMed gnomAD | |||
rs753470924 | 380 | G>V | Variant of uncertain significance (Ensembl) | ExAC gnomAD | ||
COSV58410609 | 382 | D>E | cosmic curated | |||
COSV100450073 | 382 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs760220764 | 383 | Q>* | ExAC gnomAD | |||
COSV58410297 rs760220764 | 383 | Q>E | cosmic curated ExAC gnomAD | |||
rs774912290 | 383 | Q>H | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
rs759433407 | 385 | S>C | ExAC gnomAD | |||
rs767410872 | 385 | S>P | ExAC TOPMed gnomAD | |||
COSV104640390 | 385 | S>Y | cosmic curated | |||
rs1199499064 | 386 | N>D | TOPMed | |||
rs770658058 | 386 | N>K | ExAC TOPMed gnomAD | |||
COSV58408168 | 386 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV58409689 rs1568383830 | 387 | L>F | cosmic curated Ensembl | |||
COSV107374293 | 387 | L>H | cosmic curated | |||
COSV58410233 | 388 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs762663358 | 388 | L>H | ExAC | |||
rs376376411 | 389 | V>F | ExAC TOPMed gnomAD | |||
COSV58407814 rs376376411 | 389 | V>I | cosmic curated ExAC TOPMed gnomAD | |||
rs768815058 | 390 | H>Q | ExAC TOPMed gnomAD | |||
COSV58410097 rs1971095445 | 390 | H>Y | cosmic curated TOPMed gnomAD | |||
TCGA novel | 391 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
TCGA novel | 392 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs1247189596 | 392 | R>K | TOPMed gnomAD | |||
rs1247189596 | 392 | R>T | TOPMed gnomAD | |||
rs978167492 | 393 | V>A | TOPMed gnomAD | |||
COSV100449983 | 394 | H>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs747085324 | 394 | H>Y | ExAC gnomAD | |||
rs780317759 | 395 | T>A | 1000Genomes ExAC TOPMed gnomAD | |||
COSV58410090 | 395 | T>I | cosmic curated | |||
rs772309003 | 396 | G>R | ExAC gnomAD | |||
COSV58407809 rs779574873 | 397 | E>G | cosmic curated ExAC gnomAD | |||
rs535569015 | 397 | E>K | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | ||
rs1971094469 | 399 | P>L | Variant of uncertain significance (Ensembl) | Ensembl | ||
COSV58408340 rs1971094325 | 400 | Y>C | cosmic curated Ensembl | |||
rs1250918527 | 401 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | ||
rs1971094140 | 402 | C>* | TOPMed gnomAD | |||
rs777460889 | 402 | C>F | ExAC TOPMed gnomAD | |||
COSV58409275 rs777460889 | 402 | C>S | cosmic curated ExAC TOPMed gnomAD | |||
COSV107374182 rs777460889 | 402 | C>Y | cosmic curated ExAC TOPMed gnomAD | |||
rs755762145 | 403 | S>G | ExAC TOPMed gnomAD | |||
rs1477104224 | 403 | S>I | TOPMed gnomAD | |||
rs1477104224 | 403 | S>N | TOPMed gnomAD | |||
rs752430465 | 404 | E>G | ExAC TOPMed gnomAD | |||
COSV100450010 | 404 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV58411956 | 405 | C>* | cosmic curated | |||
rs1211764830 | 405 | C>S | TOPMed gnomAD | |||
rs1211764830 | 405 | C>Y | TOPMed gnomAD | |||
rs1022259987 | 406 | G>C | TOPMed gnomAD | |||
COSV100450014 COSV58408249 | 406 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1022259987 | 406 | G>R | TOPMed gnomAD | |||
COSV100450014 COSV58408249 | 406 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1241759418 | 408 | C>R | gnomAD | |||
rs1388378676 | 408 | C>W | TOPMed | |||
rs766969013 | 409 | F>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
COSV105225998 rs759063416 | 410 | S>I | cosmic curated ExAC TOPMed gnomAD | |||
rs1328828164 | 411 | S>* | Ensembl | |||
TCGA novel | 411 | S>P | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV108156522 | 413 | S>C | cosmic curated | |||
COSV58408089 | 413 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV58409152 rs766367743 | 414 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
COSV100449845 | 415 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV58409522 | 416 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs762791880 | 416 | Q>E | ExAC TOPMed gnomAD | |||
rs1971092724 | 418 | H>R | TOPMed | |||
COSV105226057 | 418 | H>Y | cosmic curated | |||
rs1374253576 | 420 | R>K | gnomAD | |||
COSV58408424 COSV58411120 rs1301046424 | 422 | H>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | Variant of uncertain significance (Ensembl) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | |
COSV58411120 | 422 | H>Y | cosmic curated | |||
rs1028589117 | 423 | T>K | TOPMed gnomAD | |||
rs1028589117 | 423 | T>R | TOPMed gnomAD | |||
COSV58410150 rs1210476001 | 424 | G>V | cosmic curated TOPMed gnomAD | |||
rs1420312932 | 425 | E>* | gnomAD | |||
COSV107374194 | 425 | E>K | cosmic curated | |||
rs775877675 | 425 | E>V | ExAC TOPMed gnomAD | |||
COSV58410773 | 427 | P>L | cosmic curated | |||
rs779552311 | 428 | Y>H | ExAC TOPMed gnomAD | |||
COSV58409027 | 429 | R>K | cosmic curated | |||
rs1486503556 | 429 | R>S | TOPMed gnomAD | |||
rs1568383586 | 430 | C>F | Ensembl | |||
rs1048653404 | 431 | G>A | 1000Genomes TOPMed gnomAD | |||
COSV58409508 | 431 | G>C | cosmic curated | |||
COSV99044157 rs1048653404 | 431 | G>D | cosmic curated 1000Genomes TOPMed gnomAD | |||
rs562822636 | 431 | G>S | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
rs1294750610 | 432 | E>* | gnomAD | |||
TCGA novel | 434 | G>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs1971090916 | 436 | G>D | TOPMed | |||
rs948984786 | 437 | F>I | TOPMed gnomAD | |||
COSV100449982 | 440 | C>F | cosmic curated | |||
COSV58407874 rs199819861 | 440 | C>S | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
rs2123259721 | 440 | C>W | Ensembl | |||
rs375719363 | 441 | T>I | ESP ExAC gnomAD | |||
rs375719363 | 441 | T>K | ESP ExAC gnomAD | |||
rs147541021 | 442 | H>Q | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs1971090450 | 442 | H>Y | gnomAD | |||
rs1455452012 | 443 | L>F | gnomAD | |||
COSV58411028 | 443 | L>R | cosmic curated | |||
rs754482521 | 444 | H>Q | ExAC TOPMed gnomAD | |||
rs780830539 | 444 | H>R | ExAC TOPMed gnomAD | |||
rs751126010 | 446 | H>D | ExAC TOPMed gnomAD | |||
COSV58411190 rs751126010 | 446 | H>Y | cosmic curated ExAC TOPMed gnomAD | |||
rs766279571 | 447 | Q>R | ExAC TOPMed gnomAD | |||
rs1261654382 | 448 | R>G | TOPMed gnomAD | |||
COSV100449960 | 448 | R>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs550849455 | 449 | V>I | 1000Genomes ExAC TOPMed gnomAD | |||
TCGA novel | 450 | H>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
TCGA novel | 450 | H>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs1382499546 | 451 | T>I | gnomAD | |||
COSV106439986 | 452 | G>R | cosmic curated | |||
TCGA novel | 453 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV58411247 rs1157836973 | 453 | E>K | cosmic curated gnomAD | |||
rs761680295 | 454 | K>N | ExAC gnomAD | |||
rs764892376 | 454 | K>R | ExAC gnomAD | |||
rs1971088479 | 455 | P>A | Ensembl | |||
COSV58407910 rs77661661 | 455 | P>Q | cosmic curated ExAC gnomAD | |||
COSV58410545 | 455 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs759667078 | 456 | Y>H | ExAC gnomAD | |||
rs774614129 | 457 | K>I | ExAC gnomAD | |||
rs1169811826 | 458 | C>S | TOPMed gnomAD | |||
rs1169811826 | 458 | C>Y | TOPMed gnomAD | |||
rs199501382 | 459 | N>D | ExAC TOPMed gnomAD | |||
rs1971087611 | 460 | V>M | TOPMed | |||
rs749713309 | 461 | C>F | ExAC TOPMed gnomAD | |||
rs749713309 | 461 | C>Y | ExAC TOPMed gnomAD | |||
TCGA novel | 462 | G>E | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
COSV106440029 rs773785531 | 462 | G>R | cosmic curated ExAC gnomAD | |||
rs1254137429 | 463 | K>E | TOPMed gnomAD | |||
TCGA novel | 464 | D>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV58408004 rs150792548 | 466 | A>G | cosmic curated ExAC TOPMed gnomAD | |||
COSV58409185 rs150792548 | 466 | A>V | cosmic curated ExAC TOPMed gnomAD | |||
rs779387599 | 467 | Y>C | ExAC gnomAD | |||
COSV104640394 | 467 | Y>N | cosmic curated | |||
COSV58411488 | 468 | S>C | cosmic curated | |||
rs1971086617 | 468 | S>G | Ensembl | |||
COSV100450007 rs757947468 | 468 | S>N | cosmic curated ExAC TOPMed gnomAD | |||
rs757947468 | 468 | S>T | ExAC TOPMed gnomAD | |||
COSV58410278 | 469 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs765222718 | 469 | S>T | ExAC gnomAD | |||
rs757112464 | 470 | V>G | ExAC gnomAD | |||
COSV108156488 | 471 | L>F | cosmic curated | |||
rs1971086223 | 471 | L>R | Ensembl | |||
rs1555720738 | 472 | H>R | Ensembl | |||
rs1971086090 | 472 | H>Y | Ensembl | |||
rs1392130621 | 473 | T>I | gnomAD | |||
rs1331165492 | 473 | T>P | gnomAD | |||
COSV100449990 | 474 | H>N | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs953963118 | 474 | H>R | TOPMed | |||
COSV58409991 | 475 | Q>E | cosmic curated | |||
rs753736399 | 475 | Q>L | ExAC gnomAD | |||
rs1971085052 | 476 | R>I | TOPMed | |||
rs1971085052 | 476 | R>T | TOPMed | |||
rs150666364 | 477 | V>I | ESP ExAC TOPMed gnomAD | |||
COSV105226059 | 478 | H>Y | cosmic curated | |||
rs367567419 | 480 | G>A | Ensembl | |||
rs141226346 | 480 | G>R | 1000Genomes ESP ExAC TOPMed gnomAD | |||
COSV58409214 | 481 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1172443457 | 481 | E>K | TOPMed gnomAD | |||
rs1971084449 | 482 | K>Q | TOPMed | |||
COSV58408405 | 483 | P>R | cosmic curated | |||
COSV58407961 | 483 | P>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1971084383 | 483 | P>T | TOPMed | |||
COSV58408547 rs766315220 | 484 | Y>C | cosmic curated ExAC gnomAD | |||
rs774737018 | 484 | Y>H | ExAC TOPMed gnomAD | |||
rs774737018 | 484 | Y>N | ExAC TOPMed gnomAD | |||
COSV100450216 | 485 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs748446707 | 486 | C>Y | Ensembl | |||
COSV105225975 rs773590565 | 487 | E>* | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | ||
rs1387695528 | 487 | E>G | TOPMed gnomAD | |||
rs773590565 | 487 | E>K | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
rs568314396 | 488 | V>E | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | ||
rs568314396 | 488 | V>G | Variant of uncertain significance (Ensembl) | 1000Genomes ExAC TOPMed gnomAD | ||
rs1447125576 | 488 | V>M | TOPMed gnomAD | |||
rs779402878 | 489 | C>Y | ExAC TOPMed gnomAD | |||
rs777017126 | 490 | G>R | ExAC gnomAD | |||
rs746611149 | 491 | K>N | ExAC gnomAD | |||
rs769036416 | 491 | K>T | ExAC TOPMed gnomAD | |||
rs1568383226 | 492 | C>R | Ensembl | |||
rs1330390357 | 494 | S>G | TOPMed gnomAD | |||
rs757779421 | 494 | S>I | ExAC TOPMed gnomAD | |||
rs757779421 | 494 | S>N | ExAC TOPMed gnomAD | |||
COSV58408369 | 495 | Y>C | cosmic curated | |||
rs1314770684 | 495 | Y>S | TOPMed gnomAD | |||
rs1362865887 | 496 | S>G | TOPMed gnomAD | |||
COSV104640399 rs745449808 | 497 | S>L | cosmic curated ExAC TOPMed gnomAD | |||
rs1296906851 | 498 | Y>C | TOPMed | |||
rs1971082467 | 499 | F>C | Ensembl | |||
rs757302556 | 500 | H>N | ExAC TOPMed gnomAD | |||
rs1971082151 | 500 | H>Q | gnomAD | |||
rs148222760 | 500 | H>R | ESP ExAC gnomAD | |||
TCGA novel | 500 | H>S | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
COSV58409529 rs757302556 | 500 | H>Y | cosmic curated ExAC TOPMed gnomAD | |||
COSV58408771 | 501 | L>S | cosmic curated | |||
rs1048399109 | 502 | H>R | TOPMed gnomAD | |||
rs763933371 | 502 | H>Y | ExAC TOPMed gnomAD | |||
TCGA novel | 503 | Q>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV58410062 | 503 | Q>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs145955464 | 503 | Q>R | ESP ExAC TOPMed gnomAD | |||
COSV58409970 | 504 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV105225984 | 504 | R>K | cosmic curated | |||
TCGA novel | 505 | D>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs766692418 | 506 | H>D | ExAC TOPMed gnomAD | |||
rs143574007 | 507 | I>N | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | ||
rs143574007 | 507 | I>S | Likely benign (Ensembl) | ESP ExAC TOPMed gnomAD | ||
COSV107374291 rs143574007 | 507 | I>T | Likely benign (Ensembl) | cosmic curated ESP ExAC TOPMed gnomAD | ||
rs1971081596 | 507 | I>V | TOPMed | |||
TCGA novel | 509 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV58410198 rs796556378 | 511 | P>Q | cosmic curated Ensembl | |||
COSV107374190 | 512 | Y>* | cosmic curated | |||
rs868766369 | 512 | Y>C | TOPMed gnomAD | |||
rs1463888780 | 512 | Y>H | TOPMed | |||
COSV58410452 | 513 | K>T | cosmic curated | |||
rs1237502689 | 514 | C>Y | gnomAD | |||
COSV104640380 | 515 | D>E | cosmic curated | |||
rs765628352 | 515 | D>G | ExAC gnomAD | |||
rs762264678 | 519 | K>* | ExAC gnomAD | |||
COSV58411183 | 519 | K>E | cosmic curated | |||
COSV58409110 | 519 | K>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs138001522 | 520 | G>D | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs1440665904 | 520 | G>R | gnomAD | |||
rs1440665904 | 520 | G>S | gnomAD | |||
rs138001522 | 520 | G>V | 1000Genomes ESP ExAC TOPMed gnomAD | |||
COSV58408843 rs372788610 | 523 | R>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
rs771813849 | 523 | R>W | ExAC gnomAD | |||
rs780845025 | 526 | D>G | ExAC TOPMed gnomAD | |||
COSV58408922 | 526 | D>N | cosmic curated | |||
rs148896964 | 528 | N>D | 1000Genomes ExAC TOPMed gnomAD | |||
COSV58409093 rs148896964 | 528 | N>H | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
rs796348963 | 528 | N>R | Ensembl | |||
COSV58409085 rs138614800 | 528 | N>S | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
rs369555191 | 529 | V>I | ESP ExAC TOPMed gnomAD | |||
COSV58410994 | 530 | H>Q | cosmic curated | |||
rs1457051687 | 530 | H>Y | gnomAD | |||
rs752598156 | 531 | L>F | ExAC TOPMed gnomAD | |||
rs543718218 | 533 | V>I | 1000Genomes ExAC gnomAD | |||
rs1971078869 | 534 | H>P | Ensembl | |||
COSV58408482 | 534 | H>Y | cosmic curated | |||
rs1971078753 | 535 | T>A | TOPMed | |||
rs758684323 | 535 | T>K | ExAC TOPMed gnomAD | |||
rs758684323 | 535 | T>R | ExAC TOPMed gnomAD | |||
VAR_057973 rs12610859 | 536 | G>R | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
rs1971078283 | 536 | G>V | gnomAD | |||
rs1243788224 | 537 | E>D | TOPMed gnomAD | |||
rs1192857833 | 538 | R>K | gnomAD | |||
rs1464292973 | 538 | R>S | gnomAD | |||
rs765248082 | 538 | R>W | ExAC TOPMed gnomAD | |||
COSV100449988 | 539 | P>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs761890567 | 539 | P>L | ExAC TOPMed gnomAD | |||
rs2123257981 | 539 | P>S | Ensembl | |||
rs1971077608 | 540 | Y>* | TOPMed | |||
rs561026253 | 540 | Y>C | 1000Genomes ExAC gnomAD | |||
TCGA novel | 541 | K>Q | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs1568382838 | 542 | C>* | Ensembl | |||
rs775964798 | 542 | C>F | ExAC | |||
rs541224546 | 542 | C>R | 1000Genomes ExAC gnomAD | |||
rs775964798 | 542 | C>Y | ExAC | |||
COSV58410189 | 544 | A>T | cosmic curated | |||
rs868086440 | 544 | A>V | TOPMed gnomAD | |||
COSV100450022 | 546 | G>C | cosmic curated | |||
rs1568382824 | 546 | G>V | Ensembl | |||
rs1434945889 | 547 | K>N | gnomAD | |||
COSV58407992 | 548 | G>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1971076830 | 550 | S>N | Ensembl | |||
rs1971076759 | 550 | S>R | Ensembl | |||
rs1971076677 | 551 | R>C | Ensembl | |||
COSV58409256 rs772355334 | 551 | R>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
rs772355334 | 551 | R>L | ExAC TOPMed gnomAD | |||
rs573229458 | 552 | N>T | 1000Genomes ExAC gnomAD | |||
COSV100450102 rs867815076 | 553 | S>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated Ensembl dbSNP | ||
rs770502344 | 554 | Y>H | ExAC TOPMed gnomAD | |||
COSV107374151 | 555 | L>I | cosmic curated | |||
COSV58408289 rs777841874 | 556 | L>F | cosmic curated ExAC gnomAD | |||
COSV58408289 COSV58411418 | 556 | L>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV100449949 | 557 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs376214387 | 557 | A>T | ESP ExAC TOPMed gnomAD | |||
COSV58408569 rs747862770 | 557 | A>V | cosmic curated ExAC TOPMed gnomAD | |||
rs750597136 | 558 | H>Q | ExAC gnomAD | |||
rs754747120 | 558 | H>R | ExAC gnomAD | |||
rs780997664 | 558 | H>Y | ExAC TOPMed gnomAD | |||
rs779110653 | 559 | Q>K | ExAC gnomAD | |||
COSV58409956 | 560 | R>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs147054008 | 562 | H>L | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs147054008 | 562 | H>R | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs753168258 | 563 | I>R | ExAC gnomAD | |||
rs1971075140 | 563 | I>V | Ensembl | |||
COSV58407925 | 567 | Q>E | cosmic curated | |||
rs767865868 | 567 | Q>L | ExAC TOPMed gnomAD | |||
rs767865868 | 567 | Q>R | ExAC TOPMed gnomAD | |||
TCGA novel | 568 | Y>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
COSV58411231 | 569 | T>P | cosmic curated | |||
rs1836280 | 570 | H>Q | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs369315997 | 570 | H>Y | ESP ExAC TOPMed gnomAD | |||
rs762533427 | 573 | R>C | ExAC TOPMed gnomAD | |||
rs147871364 | 573 | R>H | ExAC TOPMed gnomAD | |||
COSV100449842 rs147871364 | 573 | R>P | cosmic curated ExAC TOPMed gnomAD | |||
rs748067717 | 574 | G>A | ExAC gnomAD | |||
rs748067717 | 574 | G>E | ExAC gnomAD | |||
rs878908012 | 575 | K>R | TOPMed gnomAD | |||
rs746846347 | 576 | D>E | ExAC gnomAD | |||
COSV106440030 | 577 | L>F | cosmic curated | |||
COSV100450276 | 577 | L>R | cosmic curated | |||
COSV104640388 rs148795043 | 578 | L>P | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs148795043 | 578 | L>R | 1000Genomes ESP ExAC TOPMed gnomAD | |||
COSV100450123 | 578 | L>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs145386319 | 579 | T>S | ESP | |||
rs1599952931 | 580 | H>L | Ensembl | |||
COSV58410516 | 580 | H>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
TCGA novel | 581 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
rs150036734 | 582 | R>K | 1000Genomes ExAC TOPMed gnomAD | |||
rs1481763586 | 583 | L>V | gnomAD | |||
rs749334484 | 584 | H>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
COSV105226034 | 585 | E>* | cosmic curated | |||
COSV58408693 rs149238831 | 585 | E>K | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
TCGA novel | 586 | Q>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
COSV100449975 | 587 | R>G | cosmic curated | |||
rs1971072732 | 587 | R>K | TOPMed | |||
COSV100450005 COSV58409951 | 588 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1482081592 | 588 | E>D | gnomAD | |||
COSV100450005 | 588 | E>K | cosmic curated | |||
rs1305171460 | 588 | E>Q | Ensembl | |||
rs1568382630 | 589 | T>A | TOPMed | |||
rs1971072226 | 591 | *>Q | Ensembl | |||
TCGA novel | 591 | *>Y | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||