Q9NVC3 · S38A7_HUMAN
- ProteinSodium-coupled neutral amino acid transporter 7
- GeneSLC38A7
- StatusUniProtKB reviewed (Swiss-Prot)
- Organism
- Amino acids462 (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 | |
---|---|---|---|---|---|---|
COSV54704472 | 3 | Q>* | cosmic curated | |||
rs1156442675 | 4 | V>D | gnomAD | |||
rs759350057 | 5 | S>N | ExAC gnomAD | |||
rs750738590 | 7 | N>S | ExAC | |||
COSV54703197 rs370515708 | 8 | N>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
RCV000879321 rs151075190 | 10 | Y>C | Benign (Ensembl, ClinVar) | ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | ||
rs1245982678 | 12 | E>D | TOPMed gnomAD | |||
rs768740768 | 12 | E>K | ExAC TOPMed gnomAD | |||
COSV54702448 | 13 | W>C | cosmic curated | |||
rs1208299494 | 14 | D>N | TOPMed gnomAD | |||
rs42943 | 16 | S>R | 1000Genomes ESP ExAC TOPMed gnomAD | |||
COSV104586629 rs770200248 | 17 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ExAC TOPMed dbSNP gnomAD | ||
rs867215775 | 19 | A>D | gnomAD | |||
rs867215775 | 19 | A>V | gnomAD | |||
rs11558679 | 20 | G>R | ExAC TOPMed gnomAD | |||
rs777182936 | 22 | R>Q | ExAC TOPMed gnomAD | |||
COSV54704597 rs377272316 | 22 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
rs1388905181 | 23 | A>T | TOPMed gnomAD | |||
rs748112386 | 24 | R>G | ExAC TOPMed gnomAD | |||
rs763671950 | 24 | R>P | ExAC TOPMed gnomAD | |||
rs763671950 | 24 | R>Q | ExAC TOPMed gnomAD | |||
rs748112386 | 24 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | ||
rs535382657 | 27 | Q>K | 1000Genomes ExAC TOPMed gnomAD | |||
rs2044357609 | 28 | S>C | Ensembl | |||
COSV54703142 | 29 | P>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs2044357402 | 29 | P>S | Ensembl | |||
rs1187708874 | 30 | C>F | gnomAD | |||
rs1187708874 | 30 | C>S | gnomAD | |||
rs766145824 | 30 | C>W | ExAC gnomAD | |||
rs1244053289 | 31 | V>M | gnomAD | |||
rs1486679554 | 33 | T>P | TOPMed gnomAD | |||
rs1219695883 | 34 | A>D | TOPMed gnomAD | |||
COSV54704797 | 34 | A>S | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
COSV54704797 | 34 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1219695883 | 34 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | ||
rs757451661 | 35 | P>A | ExAC TOPMed gnomAD | |||
COSV99543972 | 35 | P>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs751738138 | 36 | K>R | ExAC gnomAD | |||
rs2044356043 | 38 | E>D | gnomAD | |||
TCGA novel rs2152083458 | 38 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Ensembl | ||
rs1597679581 | 39 | W>G | Ensembl | |||
COSV99543781 | 40 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1597679566 | 40 | E>K | Ensembl | |||
rs1340679489 | 45 | G>D | TOPMed gnomAD | |||
rs764093144 | 45 | G>S | ExAC gnomAD | |||
TCGA novel COSV105872132 rs1340679489 | 45 | G>V | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA cosmic curated TOPMed gnomAD | ||
VAR_039015 rs7193572 | 46 | L>P | UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
rs2044355492 | 48 | R>K | TOPMed | |||
rs776045854 | 50 | T>I | ExAC gnomAD | |||
rs1432528796 | 51 | T>S | TOPMed | |||
COSV54705250 rs1290248302 | 52 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | ||
rs1433873405 | 53 | T>P | TOPMed gnomAD | |||
COSV99543630 | 55 | G>V | cosmic curated | |||
COSV99543779 | 56 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1426403715 | 57 | I>F | gnomAD | |||
rs1375545627 | 58 | F>C | TOPMed gnomAD | |||
rs1375545627 | 58 | F>Y | TOPMed gnomAD | |||
rs373267275 | 60 | V>I | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | ||
COSV54702735 rs372554338 | 61 | V>I | cosmic curated 1000Genomes ExAC TOPMed gnomAD | |||
rs1189654636 | 62 | N>I | gnomAD | |||
rs1189654636 | 62 | N>S | gnomAD | |||
rs771769316 | 63 | A>T | ExAC TOPMed gnomAD | |||
COSV106358664 rs1224800278 | 63 | A>V | cosmic curated TOPMed gnomAD | |||
COSV54705317 | 64 | C>* | cosmic curated | |||
rs779040411 | 64 | C>F | ExAC TOPMed gnomAD | |||
rs779040411 | 64 | C>Y | ExAC TOPMed gnomAD | |||
rs942260813 | 65 | L>R | TOPMed gnomAD | |||
TCGA novel | 66 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs779717443 | 66 | G>D | ExAC TOPMed gnomAD | |||
rs2044353563 | 67 | A>T | Ensembl | |||
COSV54702596 | 68 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1261117094 | 71 | N>S | TOPMed gnomAD | |||
rs910756115 | 73 | P>A | TOPMed gnomAD | |||
rs910756115 | 73 | P>S | TOPMed gnomAD | |||
rs2044352940 | 75 | A>V | TOPMed | |||
rs1462452458 | 77 | S>G | gnomAD | |||
VAR_039016 COSV54705431 rs7191331 | 78 | T>I | UniProt cosmic curated 1000Genomes ESP ExAC TOPMed dbSNP gnomAD | |||
rs376508664 | 79 | A>V | ESP ExAC TOPMed gnomAD | |||
COSV99543830 | 80 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1426134100 TCGA novel | 81 | G>A | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | TOPMed gnomAD NCI-TCGA | ||
rs761098789 | 81 | G>C | ExAC TOPMed gnomAD | |||
rs1426134100 | 81 | G>D | TOPMed gnomAD | |||
rs369038922 | 82 | V>L | ESP ExAC TOPMed gnomAD | |||
rs369038922 | 82 | V>M | ESP ExAC TOPMed gnomAD | |||
rs2044351726 | 83 | A>T | TOPMed | |||
rs374940498 | 83 | A>V | ESP TOPMed gnomAD | |||
rs1382748185 | 85 | G>S | TOPMed gnomAD | |||
rs1251208323 | 85 | G>V | TOPMed gnomAD | |||
rs377080241 | 87 | A>S | ESP ExAC TOPMed gnomAD | |||
COSV54702648 rs377080241 | 87 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated ESP ExAC TOPMed dbSNP gnomAD | ||
rs761503670 | 87 | A>V | ExAC TOPMed gnomAD | |||
rs201621133 | 90 | M>T | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs768213136 | 90 | M>V | ExAC TOPMed gnomAD | |||
rs2044326601 | 91 | G>C | TOPMed | |||
COSV107266756 rs768006481 | 91 | G>D | cosmic curated ExAC TOPMed gnomAD | |||
rs768006481 | 91 | G>V | ExAC TOPMed gnomAD | |||
rs889139249 | 94 | V>A | TOPMed | |||
rs751321781 | 94 | V>I | ExAC gnomAD | |||
rs763770135 | 95 | F>S | ExAC gnomAD | |||
rs763770135 | 95 | F>Y | ExAC gnomAD | |||
COSV54704418 rs775089580 | 96 | I>L | cosmic curated ExAC TOPMed gnomAD | |||
rs775089580 | 96 | I>V | ExAC TOPMed gnomAD | |||
rs2044325932 | 98 | S>N | Ensembl | |||
rs1405597803 | 101 | V>I | gnomAD | |||
COSV54704575 | 103 | L>P | cosmic curated | |||
rs1347518724 | 104 | A>S | gnomAD | |||
rs2044325721 | 105 | Y>C | TOPMed | |||
rs759474510 | 106 | C>Y | ExAC gnomAD | |||
rs1429704389 | 108 | Q>* | gnomAD | |||
COSV54702950 | 108 | Q>H | cosmic curated | |||
rs1223944868 | 108 | Q>R | Ensembl | |||
rs1397571863 | 109 | A>P | TOPMed gnomAD | |||
rs2044325380 | 110 | S>G | Ensembl | |||
COSV54702152 | 112 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV106358696 | 112 | E>K | cosmic curated | |||
rs1170017956 | 113 | R>K | TOPMed gnomAD | |||
rs901998698 | 115 | Y>N | Ensembl | |||
COSV99543636 | 118 | V>A | cosmic curated | |||
rs1256933057 | 119 | V>A | TOPMed gnomAD | |||
rs1464912606 | 119 | V>I | gnomAD | |||
rs770772701 | 120 | W>* | ExAC TOPMed gnomAD | |||
rs776496716 | 120 | W>R | ExAC gnomAD | |||
rs1480466904 | 122 | V>L | gnomAD | |||
rs1480466904 | 122 | V>M | gnomAD | |||
rs142979677 | 123 | C>S | ESP ExAC TOPMed gnomAD | |||
rs1182642930 | 126 | L>P | TOPMed gnomAD | |||
COSV54704943 | 127 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs2044324454 | 128 | G>R | Ensembl | |||
rs1475924193 | 128 | G>V | TOPMed gnomAD | |||
rs2044324300 | 129 | V>E | Ensembl | |||
rs1270443489 | 130 | L>V | gnomAD | |||
rs749426989 | 131 | C>G | ExAC gnomAD | |||
rs749426989 | 131 | C>R | ExAC gnomAD | |||
rs1597677349 | 133 | V>L | Ensembl | |||
rs1188811417 | 134 | A>G | TOPMed gnomAD | |||
COSV54703941 rs1273376109 | 134 | A>T | cosmic curated gnomAD | |||
COSV54702995 | 134 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs199648800 | 135 | I>V | 1000Genomes ExAC TOPMed gnomAD | |||
rs181440783 | 136 | A>T | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs566409558 | 136 | A>V | 1000Genomes ExAC gnomAD | |||
rs2044323632 | 137 | V>I | Ensembl | |||
rs376952907 | 138 | Y>H | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs1286534719 | 139 | T>I | gnomAD | |||
COSV54705059 | 139 | T>P | cosmic curated | |||
rs1409685571 | 140 | F>V | gnomAD | |||
COSV54703579 | 141 | G>A | cosmic curated | |||
rs764817539 | 141 | G>D | ExAC gnomAD | |||
rs1336852825 | 141 | G>R | gnomAD | |||
rs1054128496 | 144 | I>V | Ensembl | |||
rs776619677 | 145 | A>T | ExAC gnomAD | |||
rs141565697 | 149 | I>F | ESP ExAC TOPMed gnomAD | |||
rs1369121417 | 149 | I>T | TOPMed gnomAD | |||
rs141565697 | 149 | I>V | ESP ExAC TOPMed gnomAD | |||
rs372646219 | 150 | I>M | ESP ExAC gnomAD | |||
rs771694958 | 150 | I>T | ExAC TOPMed gnomAD | |||
rs1256704901 | 151 | G>S | TOPMed | |||
rs769982269 | 152 | D>G | ExAC gnomAD | |||
rs1203918459 | 152 | D>N | TOPMed gnomAD | |||
rs2044322011 | 153 | Q>K | Ensembl | |||
rs1284103426 | 154 | Q>E | TOPMed gnomAD | |||
rs370178678 | 154 | Q>H | TOPMed gnomAD | |||
rs2044321904 | 154 | Q>L | Ensembl | |||
rs2044321629 | 156 | K>N | TOPMed | |||
rs745911792 | 156 | K>R | ExAC gnomAD | |||
rs1242332362 | 157 | I>L | TOPMed gnomAD | |||
rs1242332362 | 157 | I>V | TOPMed gnomAD | |||
rs770118025 | 158 | I>T | ExAC gnomAD | |||
rs375792107 | 158 | I>V | ESP ExAC gnomAD | |||
rs1460690450 | 159 | A>D | TOPMed | |||
COSV54703032 | 159 | A>T | cosmic curated | |||
TCGA novel | 159 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs2044317293 | 160 | V>L | Ensembl | |||
rs2044317186 | 161 | M>I | TOPMed | |||
rs148206922 | 162 | A>G | 1000Genomes ESP ExAC TOPMed gnomAD | |||
COSV104985581 rs148206922 | 162 | A>V | cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD | |||
COSV106090073 | 164 | E>* | cosmic curated | |||
rs1016749948 | 165 | P>L | TOPMed gnomAD | |||
rs1364878908 | 166 | E>* | TOPMed gnomAD | |||
rs950891851 | 166 | E>A | Ensembl | |||
rs1364878908 | 166 | E>Q | TOPMed gnomAD | |||
rs199742400 | 167 | G>R | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
COSV108053020 | 167 | G>V | cosmic curated | |||
COSV54703095 | 168 | A>D | cosmic curated | |||
rs778680314 | 168 | A>G | ExAC TOPMed gnomAD | |||
rs778680314 | 168 | A>V | ExAC TOPMed gnomAD | |||
rs1245909822 | 169 | S>C | TOPMed gnomAD | |||
rs1245909822 | 169 | S>G | TOPMed gnomAD | |||
COSV54703170 rs370454103 | 170 | G>S | cosmic curated ESP ExAC TOPMed gnomAD | |||
COSV99543663 rs1219449640 | 171 | P>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | ||
COSV99543947 | 171 | P>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1490226361 | 172 | W>* | gnomAD | |||
rs1017817000 | 172 | W>G | Ensembl | |||
rs1293112865 | 173 | Y>C | gnomAD | |||
rs779550123 | 174 | T>I | ExAC gnomAD | |||
rs143031096 | 175 | D>E | ESP ExAC TOPMed gnomAD | |||
rs750440739 | 176 | R>C | ExAC TOPMed gnomAD | |||
rs143368156 | 176 | R>H | ESP ExAC TOPMed gnomAD | |||
rs1271636330 | 177 | K>R | Variant of uncertain significance (Ensembl) | gnomAD | ||
COSV54704503 | 177 | K>T | cosmic curated | |||
rs763941676 | 179 | T>I | ExAC TOPMed gnomAD | |||
rs763941676 | 179 | T>N | ExAC TOPMed gnomAD | |||
rs763941676 | 179 | T>S | ExAC TOPMed gnomAD | |||
COSV105872133 rs2044314821 | 184 | A>V | cosmic curated TOPMed | |||
rs1369947402 | 186 | L>V | TOPMed gnomAD | |||
rs2044314665 | 188 | I>T | Ensembl | |||
rs1189745100 | 190 | P>S | gnomAD | |||
COSV108053041 | 191 | L>F | cosmic curated | |||
rs1371280521 | 192 | S>A | TOPMed | |||
rs2431189 | 193 | I>T | Ensembl | |||
COSV54703210 rs2044313877 | 195 | R>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated TOPMed | ||
rs772440340 | 195 | R>K | ExAC gnomAD | |||
COSV54704332 | 196 | E>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV54702821 | 196 | E>K | cosmic curated | |||
rs748643962 | 197 | I>T | ExAC gnomAD | |||
rs1232865908 | 198 | G>S | gnomAD | |||
rs2152081494 | 199 | F>V | Ensembl | |||
COSV104586635 | 201 | K>N | cosmic curated | |||
rs779250068 | 201 | K>Q | ExAC gnomAD | |||
COSV99543871 | 202 | Y>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1309671050 | 204 | S>N | gnomAD | |||
rs769073245 | 206 | L>P | ExAC gnomAD | |||
COSV105872122 | 207 | S>G | cosmic curated | |||
COSV54703190 | 207 | S>R | cosmic curated | |||
rs775170555 | 208 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | ||
rs1597675091 | 209 | V>A | Ensembl | |||
rs150179301 | 209 | V>L | ESP ExAC TOPMed gnomAD | |||
rs150179301 | 209 | V>M | ESP ExAC TOPMed gnomAD | |||
rs2044292503 | 210 | G>S | Ensembl | |||
rs756734223 | 211 | T>A | ExAC TOPMed gnomAD | |||
rs2044292260 | 212 | W>C | Ensembl | |||
rs1160423533 | 212 | W>G | TOPMed gnomAD | |||
rs777851668 | 214 | V>I | ExAC TOPMed gnomAD | |||
rs758310485 | 217 | I>V | ExAC TOPMed gnomAD | |||
COSV54702492 rs765079849 | 218 | V>I | cosmic curated ExAC TOPMed gnomAD | |||
rs567627870 | 219 | I>T | 1000Genomes ExAC TOPMed gnomAD | |||
rs1250906802 | 219 | I>V | TOPMed | |||
rs1366466608 | 220 | I>T | Ensembl | |||
rs1161102659 | 220 | I>V | TOPMed gnomAD | |||
rs1457638394 | 221 | K>E | Ensembl | |||
rs767548877 | 223 | I>V | ExAC TOPMed gnomAD | |||
rs774876367 COSV54702767 | 224 | W>* | ExAC TOPMed gnomAD cosmic curated | |||
rs774876367 | 224 | W>L | ExAC TOPMed gnomAD | |||
COSV99543638 COSV99543863 | 228 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV99543638 rs764560401 | 228 | E>Q | cosmic curated ExAC gnomAD | |||
TCGA novel | 230 | T>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs1383315206 | 230 | T>S | TOPMed gnomAD | |||
COSV54702467 | 231 | P>A | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs377434637 | 231 | P>L | ESP ExAC gnomAD | |||
rs150999581 | 232 | G>A | ESP ExAC TOPMed gnomAD | |||
rs2044289993 | 233 | N>D | TOPMed | |||
rs1306421127 | 233 | N>S | Ensembl | |||
rs2044289687 | 234 | I>T | Ensembl | |||
rs549071044 | 234 | I>V | 1000Genomes ExAC TOPMed gnomAD | |||
rs1567472691 | 237 | R>S | Ensembl | |||
COSV54704966 rs765578855 | 238 | P>L | cosmic curated ExAC TOPMed gnomAD | |||
COSV54703715 rs753144762 | 238 | P>S | cosmic curated ExAC gnomAD | |||
COSV99543875 | 238 | P>T | cosmic curated | |||
rs1470476221 | 239 | A>S | TOPMed | |||
rs2044265459 | 240 | S>A | Ensembl | |||
COSV54705020 rs1170765398 COSV104985573 | 240 | S>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | ||
COSV54705020 | 240 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs770597846 | 242 | M>I | ExAC gnomAD | |||
rs2044265297 | 242 | M>T | Ensembl | |||
rs776188670 | 242 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | ||
rs760358313 | 243 | A>S | ExAC gnomAD | |||
COSV54704319 | 247 | A>D | cosmic curated | |||
COSV106358647 rs960126809 | 248 | M>I | cosmic curated TOPMed gnomAD | |||
rs2044265085 | 248 | M>V | gnomAD | |||
TCGA novel | 250 | T>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs1193856020 | 251 | I>T | gnomAD | |||
COSV54703264 rs1338552183 | 252 | C>Y | cosmic curated gnomAD | |||
rs1229916918 | 254 | G>A | TOPMed gnomAD | |||
rs748856352 | 254 | G>R | ExAC TOPMed gnomAD | |||
rs1229916918 | 254 | G>V | TOPMed gnomAD | |||
COSV99544016 | 256 | Q>R | cosmic curated | |||
COSV99543873 | 258 | H>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs1238994228 | 259 | V>I | TOPMed gnomAD | |||
rs759868524 | 260 | S>I | ExAC TOPMed gnomAD | |||
rs2044259704 | 261 | S>G | TOPMed | |||
rs1331310562 | 261 | S>N | TOPMed gnomAD | |||
COSV54702335 rs1567472483 | 263 | P>L | cosmic curated gnomAD | |||
rs866050493 | 263 | P>S | Ensembl | |||
COSV54702410 rs754254080 | 264 | V>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
TCGA novel | 265 | F>missing | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
COSV54702866 | 266 | N>D | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs766616017 | 268 | M>I | ExAC | |||
rs2152078786 | 268 | M>T | 1000Genomes | |||
rs1161181691 | 268 | M>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP | ||
COSV108053028 rs1335724671 | 269 | Q>H | cosmic curated TOPMed gnomAD | |||
rs2044259179 | 269 | Q>R | gnomAD | |||
rs1469847658 | 271 | P>T | gnomAD | |||
rs1304812672 | 272 | E>D | TOPMed | |||
rs760411644 | 273 | V>L | ExAC TOPMed gnomAD | |||
rs374759417 | 276 | W>L | ESP ExAC TOPMed gnomAD | |||
COSV54702294 | 277 | G>D | cosmic curated | |||
TCGA novel | 278 | G>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs1442587795 | 279 | V>A | gnomAD | |||
rs1244026459 | 281 | T>S | TOPMed gnomAD | |||
rs1242731532 | 282 | A>V | gnomAD | |||
TCGA novel | 283 | A>T | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
TCGA novel | 283 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs140010248 | 284 | M>I | ESP ExAC TOPMed gnomAD | |||
rs1204568981 | 284 | M>V | gnomAD | |||
rs768658865 | 285 | V>D | ExAC gnomAD | |||
rs1282247319 | 285 | V>I | gnomAD | |||
rs960550222 | 286 | I>V | TOPMed | |||
COSV104985582 rs1352016577 | 287 | A>V | cosmic curated gnomAD | |||
rs548966038 | 288 | L>F | 1000Genomes ExAC gnomAD | |||
rs779902963 | 288 | L>P | ExAC gnomAD | |||
rs868782902 | 289 | A>T | Variant of uncertain significance (Ensembl) | TOPMed gnomAD | ||
COSV99543622 | 290 | V>D | cosmic curated | |||
rs1324148550 | 290 | V>G | gnomAD | |||
rs1597672452 | 292 | M>K | Ensembl | |||
rs1452958448 | 292 | M>L | gnomAD | |||
rs1597672452 | 292 | M>R | Ensembl | |||
COSV99543618 | 292 | M>T | cosmic curated | |||
rs1452958448 | 292 | M>V | gnomAD | |||
rs1341670520 | 294 | T>A | gnomAD | |||
rs1315595934 | 294 | T>I | gnomAD | |||
COSV54705005 | 294 | T>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs756936849 | 296 | I>M | ExAC gnomAD | |||
rs767951321 | 296 | I>V | ExAC TOPMed gnomAD | |||
COSV54703953 | 297 | C>S | cosmic curated | |||
rs865964792 | 298 | G>C | Ensembl | |||
rs751114657 | 299 | F>Y | ExAC gnomAD | |||
rs570338430 | 303 | G>E | 1000Genomes gnomAD | |||
rs1567470553 | 303 | G>R | Ensembl | |||
rs370888986 | 304 | A>P | Ensembl | |||
rs1220906076 | 305 | A>T | gnomAD | |||
COSV99543993 rs763717219 | 305 | A>V | cosmic curated ExAC gnomAD | |||
rs1447322792 | 307 | D>H | TOPMed gnomAD | |||
rs2044173609 | 307 | D>V | Ensembl | |||
COSV54704585 | 308 | P>H | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV104985583 | 308 | P>L | cosmic curated | |||
rs775471836 | 308 | P>T | ExAC TOPMed gnomAD | |||
COSV54702140 rs1469310878 | 310 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated dbSNP gnomAD | ||
rs1359848664 | 311 | L>P | gnomAD | |||
rs2044173005 | 312 | L>P | TOPMed | |||
COSV54704301 | 313 | S>Y | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs762321865 | 314 | Y>C | TOPMed gnomAD | |||
rs984810699 | 314 | Y>H | Ensembl | |||
rs1407962880 | 315 | P>S | gnomAD | |||
rs1407962880 | 315 | P>T | gnomAD | |||
rs998526954 | 316 | S>L | TOPMed gnomAD | |||
rs1239597743 | 318 | D>G | TOPMed gnomAD | |||
rs1185515734 | 319 | M>I | TOPMed gnomAD | |||
rs369915497 | 319 | M>T | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | ||
rs759409044 | 319 | M>V | ExAC TOPMed gnomAD | |||
COSV108053031 | 320 | A>S | cosmic curated | |||
rs1256079803 | 320 | A>T | gnomAD | |||
rs2044172329 | 320 | A>V | gnomAD | |||
rs749703806 | 321 | V>L | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
rs749703806 | 321 | V>M | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
COSV99543529 | 322 | A>V | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs372860415 | 323 | V>F | ESP ExAC TOPMed gnomAD | |||
rs372860415 | 323 | V>I | ESP ExAC TOPMed gnomAD | |||
rs894280151 | 325 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | ||
COSV107266766 | 325 | R>L | cosmic curated | |||
rs749319510 | 325 | R>Q | ExAC TOPMed gnomAD | |||
rs570530439 | 326 | A>D | ExAC TOPMed gnomAD | |||
rs570530439 | 326 | A>G | ExAC TOPMed gnomAD | |||
rs2044171629 | 327 | F>C | TOPMed | |||
rs1379908114 | 327 | F>L | gnomAD | |||
rs1304643659 | 328 | I>M | gnomAD | |||
rs1451799989 | 330 | L>P | gnomAD | |||
rs938062870 | 332 | V>L | gnomAD | |||
rs938062870 | 332 | V>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | dbSNP gnomAD | ||
rs1421857883 | 333 | L>F | gnomAD | |||
rs1383817266 | 333 | L>P | TOPMed gnomAD | |||
rs1597666705 | 334 | T>P | Ensembl | |||
rs1597666688 | 336 | Y>S | Ensembl | |||
rs1443646992 | 337 | P>L | gnomAD | |||
rs2044170831 | 338 | I>L | gnomAD | |||
rs2044170564 | 340 | H>R | TOPMed gnomAD | |||
rs781708373 | 340 | H>Y | ExAC gnomAD | |||
rs2044170460 | 341 | F>I | gnomAD | |||
rs745888167 | 342 | C>Y | Ensembl | |||
TCGA novel | 344 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs1217285818 | 344 | R>P | TOPMed gnomAD | |||
rs1217285818 | 344 | R>Q | TOPMed gnomAD | |||
rs1260021496 | 344 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | TOPMed dbSNP gnomAD | ||
rs778140612 | 345 | A>E | ExAC TOPMed gnomAD | |||
rs1597665526 | 345 | A>T | Ensembl | |||
COSV107266759 rs778140612 | 345 | A>V | cosmic curated ExAC TOPMed gnomAD | |||
rs1198107510 | 346 | V>A | gnomAD | |||
rs752304372 | 349 | G>S | ExAC gnomAD | |||
rs144278540 | 350 | L>M | ESP ExAC TOPMed gnomAD | |||
TCGA novel | 351 | W>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA | ||
rs1290859902 | 352 | L>V | TOPMed | |||
COSV54702962 rs753809055 | 353 | R>C | cosmic curated ExAC gnomAD | |||
rs753809055 | 353 | R>G | ExAC gnomAD | |||
rs148567685 | 353 | R>H | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | ||
rs1414170691 COSV107266639 | 355 | Q>H | TOPMed gnomAD cosmic curated | |||
rs1200574180 | 355 | Q>L | TOPMed gnomAD | |||
rs760607141 | 356 | G>R | ExAC gnomAD | |||
rs889105642 | 357 | V>A | Ensembl | |||
rs767307176 | 357 | V>L | ExAC gnomAD | |||
rs767307176 | 357 | V>M | ExAC gnomAD | |||
rs2044152951 | 358 | P>R | Ensembl | |||
rs2044152847 | 359 | V>G | Ensembl | |||
rs763292601 | 359 | V>M | ExAC TOPMed gnomAD | |||
COSV99543719 COSV54702890 | 361 | E>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs370445471 | 362 | D>E | ESP ExAC TOPMed gnomAD | |||
rs1597665451 | 363 | V>G | Ensembl | |||
rs200631136 | 363 | V>M | ESP ExAC TOPMed gnomAD | |||
rs2044152605 | 364 | G>R | TOPMed | |||
rs1466689853 | 365 | R>Q | TOPMed gnomAD | |||
COSV54703898 rs374267248 | 365 | R>W | cosmic curated ESP ExAC TOPMed gnomAD | |||
rs771355373 | 367 | R>Q | ExAC TOPMed gnomAD | |||
rs143684477 | 367 | R>W | 1000Genomes ExAC TOPMed gnomAD | |||
rs773478418 | 368 | R>Q | ExAC TOPMed gnomAD | |||
rs747481295 | 368 | R>W | ExAC TOPMed gnomAD | |||
COSV54705151 COSV99543582 | 369 | R>L | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV54705151 rs747844837 | 369 | R>Q | cosmic curated ExAC TOPMed gnomAD | |||
COSV54702248 rs772371078 | 369 | R>W | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
rs778503285 | 370 | R>* | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | ExAC TOPMed dbSNP gnomAD | ||
rs754546074 | 370 | R>Q | ExAC TOPMed gnomAD | |||
rs1597665385 | 371 | V>G | Ensembl | |||
rs1177422700 | 371 | V>L | TOPMed gnomAD | |||
rs371057866 | 373 | Q>K | 1000Genomes ESP ExAC TOPMed gnomAD | |||
rs750328473 | 374 | T>K | ExAC TOPMed gnomAD | |||
COSV99543749 rs750328473 | 374 | T>M | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC TOPMed dbSNP gnomAD | ||
rs1567469891 | 374 | T>S | Ensembl | |||
rs757088162 | 376 | V>I | ExAC gnomAD | |||
rs2044151167 | 381 | T>A | Ensembl | |||
COSV54703744 rs1448540025 | 381 | T>I | cosmic curated gnomAD | |||
rs765542484 | 382 | L>M | ExAC gnomAD | |||
COSV54704342 | 384 | L>M | cosmic curated | |||
COSV54703182 rs1019404981 | 385 | A>V | cosmic curated TOPMed gnomAD | |||
rs759774108 | 386 | L>F | ExAC gnomAD | |||
rs1597665297 | 387 | F>C | Ensembl | |||
rs1418815263 | 389 | P>T | gnomAD | |||
COSV54705224 | 390 | D>H | cosmic curated | |||
rs766440636 | 391 | I>M | ExAC TOPMed gnomAD | |||
rs1226467885 | 391 | I>V | TOPMed gnomAD | |||
rs761106367 | 392 | G>C | Variant of uncertain significance (Ensembl) | ExAC TOPMed gnomAD | ||
COSV54703691 | 392 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
COSV54703691 rs761106367 | 392 | G>S | Variant of uncertain significance (Ensembl) | cosmic curated ExAC TOPMed gnomAD | ||
rs773744363 | 396 | S>A | ExAC gnomAD | |||
rs1257073784 | 396 | S>L | TOPMed | |||
rs781118550 | 396 | S>R | ExAC gnomAD | |||
rs1444245710 | 398 | I>T | gnomAD | |||
rs1260194584 | 399 | G>A | gnomAD | |||
rs1260194584 | 399 | G>E | gnomAD | |||
rs891872150 | 400 | G>D | TOPMed | |||
rs1216562602 | 400 | G>S | gnomAD | |||
rs1597665252 | 402 | A>T | Ensembl | |||
rs370282423 | 403 | A>S | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | ||
rs370282423 | 403 | A>T | Variant of uncertain significance (Ensembl) | ESP ExAC TOPMed gnomAD | ||
rs748934257 | 403 | A>V | ExAC gnomAD | |||
rs1283281052 | 405 | F>L | gnomAD | |||
rs1283281052 | 405 | F>V | gnomAD | |||
rs1169647545 | 406 | I>F | TOPMed | |||
rs1448099701 | 406 | I>S | gnomAD | |||
rs779455409 | 407 | F>L | ExAC gnomAD | |||
rs2044149379 | 407 | F>S | Variant of uncertain significance (Ensembl) | TOPMed | ||
rs745835014 | 408 | V>F | ExAC TOPMed gnomAD | |||
COSV99543941 rs745835014 | 408 | V>I | cosmic curated ExAC TOPMed gnomAD | |||
rs781186126 | 409 | F>L | ExAC TOPMed gnomAD | |||
rs1361150530 | 409 | F>L | gnomAD | |||
rs1422558779 | 410 | P>L | gnomAD | |||
rs1567469388 | 411 | G>V | Ensembl | |||
COSV54704612 | 412 | L>= | Variant assessed as Somatic; LOW impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||
rs775654419 | 412 | L>P | TOPMed gnomAD | |||
rs1243259583 | 414 | L>V | Ensembl | |||
rs758186812 | 415 | I>T | ExAC gnomAD | |||
rs1174824249 | 417 | A>G | gnomAD | |||
rs2044132093 | 420 | S>A | TOPMed | |||
rs2044132093 | 420 | S>P | TOPMed | |||
COSV54703019 COSV99543686 | 421 | E>K | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
COSV54703019 | 421 | E>Q | cosmic curated | |||
rs754045767 | 422 | M>I | ExAC gnomAD | |||
rs2044131963 | 422 | M>V | Ensembl | |||
rs780314890 | 423 | E>K | ExAC TOPMed gnomAD | |||
rs780314890 | 423 | E>Q | ExAC TOPMed gnomAD | |||
rs1292262218 | 427 | P>L | TOPMed gnomAD | |||
COSV99543808 | 427 | P>Q | cosmic curated | |||
rs756202433 | 427 | P>S | ExAC TOPMed gnomAD | |||
COSV99543812 | 429 | S>I | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs747957513 | 430 | W>* | ExAC gnomAD | |||
rs747957513 | 430 | W>C | ExAC gnomAD | |||
COSV54704383 | 431 | W>* | cosmic curated | |||
rs1356082868 COSV54704459 | 431 | W>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | gnomAD NCI-TCGA Cosmic cosmic curated | ||
COSV99543978 | 431 | W>L | cosmic curated | |||
rs544391406 | 432 | V>M | 1000Genomes | |||
rs778510240 | 434 | V>A | ExAC gnomAD | |||
COSV54702400 | 435 | S>C | cosmic curated | |||
rs756393885 | 435 | S>G | ExAC gnomAD | |||
rs377336010 | 435 | S>I | ESP ExAC gnomAD | |||
rs2044062449 | 436 | Y>C | TOPMed gnomAD | |||
COSV99543760 rs757299833 | 437 | G>R | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated ExAC dbSNP gnomAD | ||
rs149442475 | 437 | G>V | ESP | |||
COSV104586631 COSV99543929 rs756773329 | 439 | L>F | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | cosmic curated NCI-TCGA Cosmic ExAC TOPMed dbSNP gnomAD | ||
rs1392731724 | 440 | L>F | Ensembl | |||
rs555568883 | 440 | L>M | 1000Genomes ExAC TOPMed gnomAD | |||
COSV99543982 | 443 | L>M | cosmic curated | |||
TCGA novel | 444 | G>E | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs1567467821 | 445 | A>T | Ensembl | |||
rs1295371559 | 445 | A>V | TOPMed gnomAD | |||
rs1183470051 | 448 | F>V | TOPMed gnomAD | |||
COSV99543735 | 449 | G>C | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA Cosmic cosmic curated | ||
rs377594326 | 449 | G>S | ESP ExAC TOPMed gnomAD | |||
rs373393552 | 450 | Q>R | ESP TOPMed gnomAD | |||
rs760255911 | 452 | T>I | ExAC gnomAD | |||
rs760255911 | 452 | T>K | ExAC gnomAD | |||
TCGA novel | 453 | A>G | Variant assessed as Somatic; MODERATE impact. (NCI-TCGA) | NCI-TCGA | ||
rs139988374 | 454 | N>S | ESP ExAC TOPMed gnomAD | |||
COSV54702778 rs1216950371 | 455 | A>T | cosmic curated TOPMed gnomAD | |||
rs768316255 | 458 | V>G | ExAC TOPMed gnomAD | |||
rs1002393071 | 458 | V>M | TOPMed | |||
rs1597660179 | 459 | D>A | Ensembl | |||
rs906667317 | 459 | D>N | TOPMed gnomAD | |||
rs1240839108 | 460 | L>F | Variant of uncertain significance (Ensembl) | TOPMed | ||
rs557456174 | 462 | A>S | 1000Genomes ExAC gnomAD | |||
rs781390038 | 463 | *>L | ExAC gnomAD | |||
COSV99543734 | 463 | *>Q | Variant assessed as Somatic; HIGH impact. (NCI-TCGA) | NCI-TCGA Cosmic | ||