Q86VH2

SS
Gene name
KIF27
Protein name
Kinesin-like protein KIF27
Names
Species
Homo sapiens (Human)
KEGG Pathway
hsa:55582
EC number
Protein Class

Descriptions

KIF7 is a kinesin-4 family member that plays a critical role in Hedgehog signaling in vertebrates. It is regulated by an autoinhibition mechanism via its inhibitory coiled coil segment. Truncation of the coiled coil segment relieves the autoinhibition of microtubule binding. Loss of autoinhibition, as seen in certain mutations, leads to strong microtubule binding and can be pathogenic for human diseases such as Joubert syndrome and acrocallosal syndrome.

Autoinhibitory domains (AIDs)

1128-1240 (Inhibitory coiled-coil) SS

Target domain

0-575 (N-terminal motor domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

References

Autoinhibited structure

Activated structure

1 structures for Q86VH2

Entry ID Method Resolution Chain Position Source
AF-Q86VH2-F1 Predicted AlphaFoldDB

1415 variants for Q86VH2

Variant ID(s) Position Change Description Diseaes Association Provenance
rs528345101 4 I>L No ExAC
TOPMed
gnomAD
rs773009927 4 I>T No ExAC
gnomAD
rs528345101 4 I>V No ExAC
TOPMed
gnomAD
rs1463890071 5 P>L No TOPMed
rs1466260647 9 A>V No TOPMed
gnomAD
rs748128352 10 V>I No ExAC
gnomAD
rs1409619237 12 I>T No gnomAD
rs1268097096 12 I>V No TOPMed
rs1435102395 13 R>G No gnomAD
rs746054884 14 P>A No ExAC
TOPMed
gnomAD
rs746054884 14 P>S No ExAC
TOPMed
gnomAD
COSM6183819 17 C>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs779259691 17 C>S No ExAC
TOPMed
gnomAD
rs779259691 17 C>Y No ExAC
TOPMed
gnomAD
rs544957472 18 K>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs1955600678 19 E>K No TOPMed
gnomAD
rs1955600144 20 A>S No Ensembl
rs1955600144 20 A>T No Ensembl
rs1390587633 22 H>D No TOPMed
rs1955599342 22 H>Q No Ensembl
rs151072016 23 N>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1313623453 24 H>N No gnomAD
rs1955598440 24 H>R No Ensembl
rs1955598003 25 Q>P No TOPMed
rs201835321 27 C>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs1375126193 28 V>M No gnomAD
rs759936405 30 V>L No ExAC
rs377450779 31 I>V No Ensembl
rs1448128443 33 N>D No gnomAD
rs1040967379 33 N>S No TOPMed
gnomAD
rs773990415 34 S>N No ExAC
TOPMed
gnomAD
rs1344406739 35 Q>* No TOPMed
gnomAD
rs1467611843 36 Q>R No TOPMed
gnomAD
rs1378442265 38 I>V No gnomAD
rs1955593908 39 I>T No TOPMed
rs1270362653 41 R>K No TOPMed
gnomAD
rs762527132 41 R>S No ExAC
TOPMed
gnomAD
rs761818271 42 D>E No ExAC
TOPMed
gnomAD
rs772737449 42 D>G No ExAC
gnomAD
rs772737449 42 D>V No ExAC
gnomAD
rs768564047 44 V>G No ExAC
rs776747895 44 V>I No ExAC
TOPMed
gnomAD
rs1458179490 46 T>N No gnomAD
rs1285172100 48 D>H No TOPMed
gnomAD
rs1227834005 49 F>S No gnomAD
rs1955591244 52 G>D No TOPMed
rs1955590750 56 T>A No gnomAD
rs746856988 57 Q>H No ExAC
TOPMed
gnomAD
rs1256282163 58 D>G No gnomAD
rs1413859659 59 E>D No TOPMed
rs779723498 59 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1352007772 60 V>A No gnomAD
rs1471517746 62 N>K No TOPMed
rs749506941 64 C>F No ExAC
TOPMed
gnomAD
rs541660256 64 C>R No 1000Genomes
ExAC
gnomAD
rs749506941 64 C>Y No ExAC
TOPMed
gnomAD
rs148934176 65 I>L No ESP
ExAC
TOPMed
gnomAD
rs148934176 65 I>V No ESP
ExAC
TOPMed
gnomAD
rs1955587749 66 K>E No Ensembl
rs756237758 66 K>M No ExAC
gnomAD
rs1397921850 67 P>S No gnomAD
rs1955586687 68 L>R No Ensembl
rs781715428 68 L>V No ExAC
gnomAD
rs370476698 69 V>G No ESP
TOPMed
gnomAD
rs1955586019 70 L>V No TOPMed
rs755324153 71 S>T No ExAC
gnomAD
rs751893763 73 I>T No ExAC
gnomAD
rs1349001779 75 G>S No Ensembl
rs1564018176 75 G>V No Ensembl
rs555892893 76 Y>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs766658858 76 Y>H No ExAC
TOPMed
gnomAD
rs750091863 78 A>V No ExAC
TOPMed
gnomAD
rs184212344 80 V>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs184212344 80 V>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1487116477 81 F>L No gnomAD
rs1287667036 83 Y>C No TOPMed
gnomAD
TCGA novel 85 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1207529635 86 T>I No TOPMed
gnomAD
rs1207529635 86 T>S No TOPMed
gnomAD
rs1955581585 89 G>E No gnomAD
TCGA novel 93 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs768654011 94 I>F No ExAC
TOPMed
gnomAD
rs760689665 94 I>T No ExAC
gnomAD
rs768654011 94 I>V No ExAC
TOPMed
gnomAD
rs145300186 95 G>A No ESP
ExAC
TOPMed
gnomAD
rs771788991 97 G>V No ExAC
rs1398188008 98 H>R No TOPMed
gnomAD
rs1362700694 99 I>S No gnomAD
rs777900219 100 A>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs777900219 100 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs769948226 100 A>V No ExAC
gnomAD
rs776652629 102 V>I No ExAC
gnomAD
rs1244585494 103 V>G No TOPMed
gnomAD
TCGA novel 104 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1469143368 104 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1954821796 104 E>Q No Ensembl
rs747519922 105 G>A No ExAC
gnomAD
rs1320142314 108 G>C No TOPMed
gnomAD
rs1954819472 108 G>D No TOPMed
gnomAD
rs1320142314 108 G>S No TOPMed
gnomAD
rs139715507 109 I>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1293994664 110 I>V No TOPMed
gnomAD
rs147431079 112 R>* No ESP
ExAC
TOPMed
gnomAD
rs147431079 112 R>G No ESP
ExAC
TOPMed
gnomAD
rs1035562287 112 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1276762658 113 A>G No TOPMed
gnomAD
rs1438361984 114 I>V No gnomAD
rs567251057 115 Q>* No 1000Genomes
ExAC
gnomAD
rs753563611 115 Q>R No ExAC
gnomAD
rs1954816813 117 I>M No Ensembl
rs763679267 118 F>L No ExAC
gnomAD
rs763679267 118 F>V No ExAC
gnomAD
rs755624703 119 Q>E No ExAC
TOPMed
gnomAD
rs752678080 119 Q>R No ExAC
gnomAD
rs1422641795 120 S>N No gnomAD
rs1173957621 122 S>Y No TOPMed
gnomAD
rs1005104667 123 E>D No TOPMed
rs1564003861 124 H>Q No TOPMed
gnomAD
rs759532647 124 H>Y No ExAC
TOPMed
gnomAD
rs774067614 125 P>R No ExAC
gnomAD
rs1954813360 125 P>S No TOPMed
rs1954810429 126 S>G No Ensembl
rs766193831 126 S>N No ExAC
gnomAD
rs761975954 128 D>A No ExAC
TOPMed
gnomAD
TCGA novel 133 V>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 133 V>Y Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs775649967 134 S>C No ExAC
gnomAD
rs772389559 135 Y>C No ExAC
gnomAD
rs772389559 135 Y>F No ExAC
gnomAD
rs532273915 135 Y>H No Ensembl
rs1237641815 136 I>L No gnomAD
rs746414083 136 I>M No ExAC
gnomAD
rs1263300643 137 E>Q No TOPMed
gnomAD
rs375810143 138 V>A No ESP
ExAC
TOPMed
gnomAD
rs779367580 138 V>M No ExAC
gnomAD
rs1335821601 139 Y>* No gnomAD
rs1356928913 139 Y>C No TOPMed
gnomAD
rs748921730 140 K>E No ExAC
TOPMed
gnomAD
rs1359442310 141 E>G No gnomAD
rs755640552 142 D>E No ExAC
TOPMed
gnomAD
rs777637489 142 D>Y No ExAC
gnomAD
rs767060247 145 D>E No ExAC
gnomAD
rs1239264304 146 L>F No gnomAD
rs1258227049 146 L>R No TOPMed
gnomAD
rs1954803607 148 E>Q No Ensembl
rs372555424 151 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs372555424 151 T>R No ESP
ExAC
TOPMed
gnomAD
rs766130139
COSM1110631
 153 M>I endometrium Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
ExAC
TOPMed
gnomAD
NCI-TCGA Cosmic
rs140491572 153 M>L No ESP
ExAC
TOPMed
gnomAD
rs140491572 153 M>V No ESP
ExAC
TOPMed
gnomAD
rs1318494334 154 K>R No gnomAD
rs762802842 155 D>G No ExAC
gnomAD
rs2132673364 156 L>V No Ensembl
rs1168950204 157 H>P No TOPMed
rs1168950204 157 H>R No TOPMed
rs1376399526 158 I>N No gnomAD
rs1227640125 158 I>V No gnomAD
COSM1110630
rs537684585
 159 R>* Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1954799028 159 R>Q No TOPMed
gnomAD
rs1379335676 160 E>Q No TOPMed
gnomAD
rs772212322 161 D>E No ExAC
gnomAD
rs923880280 162 E>D No gnomAD
rs569974082 162 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs1954797243 163 K>Q No TOPMed
rs1346152563 163 K>R No gnomAD
TCGA novel 164 G>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs775041607 165 N>D No ExAC
gnomAD
rs200513825 166 T>A No gnomAD
rs200513825 166 T>S No gnomAD
rs1229629138 167 V>M No TOPMed
gnomAD
rs1437555116 169 V>A No TOPMed
rs771510121 169 V>F No ExAC
gnomAD
rs763559372 170 G>E No ExAC
gnomAD
rs540462841 172 K>Q No 1000Genomes
ExAC
gnomAD
rs765323788 173 E>K No ExAC
TOPMed
gnomAD
rs1048536036 175 H>L No TOPMed
gnomAD
rs1255077081 176 V>A No TOPMed
gnomAD
rs1217896307 177 E>* No TOPMed
gnomAD
rs1217896307 177 E>Q No TOPMed
gnomAD
rs199846865 178 S>G No 1000Genomes
ExAC
gnomAD
rs1954218857 178 S>R No TOPMed
rs1310130356 179 A>T No Ensembl
rs1954217868 180 G>D No TOPMed
rs780963076 181 E>K No ExAC
gnomAD
rs1333478872 183 M>I No gnomAD
rs2132590195 183 M>R No Ensembl
rs1954216167 184 S>N No Ensembl
rs746463879
COSM3927129
 185 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs746463879 185 L>I No ExAC
gnomAD
TCGA novel 187 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1196816 188 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1563992947 188 M>R No Ensembl
rs1954214804 189 G>E No gnomAD
rs1954214124 190 N>K No gnomAD
rs147985902 191 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs758289085 194 H>R No ExAC
rs1954213383 194 H>Y No TOPMed
gnomAD
rs369710588 195 T>I No ESP
ExAC
TOPMed
gnomAD
rs1954212304 197 T>A No Ensembl
rs1954211940 197 T>N No Ensembl
rs1396626977 198 T>P No gnomAD
rs921525533 199 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs778547102 201 N>K No ExAC
TOPMed
gnomAD
rs757112864 202 E>G No ExAC
TOPMed
gnomAD
rs1954210047 202 E>K No Ensembl
rs752861336 203 H>D No ExAC
TOPMed
gnomAD
rs752861336 203 H>N No ExAC
TOPMed
gnomAD
rs965411515 203 H>R No TOPMed
rs767839569 205 S>R No ExAC
TOPMed
gnomAD
TCGA novel 206 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM95622
rs755267943
 207 S>* lung [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs1440944907 208 H>Q No TOPMed
gnomAD
rs1207322796 209 A>E No gnomAD
rs144421081 210 I>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA5103335
COSM3764033
RCV000455189
VAR_035361
rs12001918
 213 I>V large_intestine [Cosmic] No ClinGen
cosmic curated
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1392092015 215 I>V No gnomAD
rs1301357262 216 C>F No gnomAD
rs763505930 218 V>A No ExAC
gnomAD
rs1376251326 221 N>S No gnomAD
rs1376251326 221 N>T No gnomAD
rs1438791398 222 M>I No gnomAD
rs771235706 222 M>T No ExAC
gnomAD
rs765488881 224 A>T No ExAC
TOPMed
gnomAD
rs1954201850 224 A>V No TOPMed
gnomAD
rs1419196338 228 G>R No gnomAD
rs1954200403 230 W>* No Ensembl
rs1305114587 230 W>R No gnomAD
rs1954200065 231 Y>C No gnomAD
rs1198185761 232 S>C No TOPMed
gnomAD
rs1198185761 232 S>F No TOPMed
gnomAD
rs776870488 232 S>T No ExAC
gnomAD
rs1954198890 233 P>R No TOPMed
rs1280512260 234 R>L No gnomAD
rs1280512260 234 R>Q No gnomAD
rs747324827 234 R>W No ExAC
TOPMed
gnomAD
rs1954197066 236 I>V No TOPMed
rs958131422 238 S>* No TOPMed
rs1954195736 240 F>Y No TOPMed
rs1236887444 241 H>Y No gnomAD
rs1954194644 243 V>A No Ensembl
rs774927647 244 D>E No ExAC
gnomAD
rs1230232525 244 D>H No gnomAD
rs1230232525 244 D>N No gnomAD
rs372426841 247 G>V No TOPMed
gnomAD
rs149773175 253 K>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141363838 254 T>K No ESP
ExAC
TOPMed
gnomAD
rs141363838 254 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs141363838 254 T>R No ESP
ExAC
TOPMed
gnomAD
rs777437927 255 G>R No ExAC
TOPMed
gnomAD
rs1954189609 256 N>S No TOPMed
rs1954189299 257 T>A No TOPMed
rs1179124812 258 G>A No Ensembl
rs1954188695 259 E>Q No Ensembl
rs751853807 260 R>Q No ExAC
TOPMed
gnomAD
rs139609439
COSM4696119
 260 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM94583
rs193285297
 261 F>L lung [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1014123547 262 K>E No TOPMed
rs138255319 262 K>R No ESP
TOPMed
gnomAD
rs1954186553
COSM1110629
 263 E>* Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs1954186185 264 S>C No Ensembl
COSM1674579
rs1382476055
 266 Q>R lung [Cosmic] No cosmic curated
TOPMed
gnomAD
rs1954185486 267 I>V No Ensembl
rs376710039 268 N>D No ESP
TOPMed
gnomAD
rs1160279911 268 N>S No TOPMed
gnomAD
rs758591940 271 L>F No ExAC
gnomAD
rs750879422 273 A>D No ExAC
gnomAD
rs1403012309 273 A>P No TOPMed
TCGA novel 273 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1432578382 274 L>F No gnomAD
rs765715657 274 L>S No ExAC
gnomAD
rs1475867389 275 G>* No TOPMed
gnomAD
TCGA novel 277 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1192473790 278 I>M No gnomAD
rs762230637 278 I>V No ExAC
TOPMed
gnomAD
rs777012575 279 S>N No ExAC
gnomAD
rs372449530 280 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1450519156 280 A>V No Ensembl
rs775160703 281 L>V No ExAC
TOPMed
gnomAD
rs140475602 283 D>E No ESP
ExAC
TOPMed
gnomAD
rs771563536 283 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs771563536 283 D>Y No ExAC
TOPMed
gnomAD
rs151248208 284 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
NCI-TCGA
TOPMed
gnomAD
rs151248208 284 P>R No ESP
TOPMed
gnomAD
COSM3848981
rs1277851962
 285 R>C breast [Cosmic] No cosmic curated
TOPMed
gnomAD
rs773750084 285 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs770839077 286 R>G No ExAC
gnomAD
rs1954176471 287 K>R No Ensembl
rs1439310727 288 S>N No gnomAD
COSM3908546 289 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1954175175 290 H>R No TOPMed
rs1954175524 290 H>Y No Ensembl
rs150593704 293 Y>C No 1000Genomes
ExAC
gnomAD
rs777663766 296 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs187494265 296 A>V No 1000Genomes
ExAC
gnomAD
rs747204801 298 I>T No ExAC
gnomAD
rs35594736
VAR_035362
 300 R>Q No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs368536781 300 R>W No ESP
ExAC
TOPMed
gnomAD
rs1563991276 301 L>I No Ensembl
rs750448963 301 L>P No ExAC
gnomAD
rs1194365160 302 L>V No gnomAD
rs1451382418 304 D>N No gnomAD
rs374690692 305 S>C No ESP
ExAC
TOPMed
gnomAD
rs374690692 305 S>F No ESP
ExAC
TOPMed
gnomAD
COSM1110628
rs374690692
 305 S>Y Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs142339049 306 L>P No ESP
ExAC
TOPMed
gnomAD
rs142339049 306 L>R No ESP
ExAC
TOPMed
gnomAD
rs1254876416 306 L>V No TOPMed
TCGA novel 307 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1469005121 310 A>T No gnomAD
rs1257531814 310 A>V No gnomAD
rs754346636 311 K>E No ExAC
gnomAD
rs548369061 311 K>N No 1000Genomes
ExAC
gnomAD
rs1341746414 311 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs147859809 313 V>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147859809 313 V>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs147859809 313 V>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs773875283 314 M>I No ExAC
gnomAD
rs759119585 314 M>V No ExAC
TOPMed
gnomAD
rs113210971 316 T>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1407657054 317 C>R No TOPMed
gnomAD
COSM3908545 318 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1168134045 319 S>I No TOPMed
gnomAD
rs1168134045 319 S>N No TOPMed
gnomAD
rs116477156 321 S>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs532390425 321 S>T No 1000Genomes
ExAC
gnomAD
rs1954159007 322 S>F No Ensembl
rs746349752 323 S>L No ExAC
TOPMed
gnomAD
rs781137516 323 S>T No ExAC
gnomAD
rs746349752 323 S>W No ExAC
TOPMed
gnomAD
rs779025482 325 F>S No ExAC
gnomAD
rs1245602994 328 S>P No Ensembl
TCGA novel 329 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs754337057
COSM3782304
 331 S>C pancreas [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs754337057 331 S>F No ExAC
TOPMed
gnomAD
rs754337057 331 S>Y No ExAC
TOPMed
gnomAD
rs1954155586 332 L>V No TOPMed
rs778307249 333 K>R No ExAC
gnomAD
rs144003628 334 Y>H No ESP
ExAC
TOPMed
gnomAD
rs144003628 334 Y>N No ESP
ExAC
TOPMed
gnomAD
rs1277553362 335 A>V No TOPMed
gnomAD
rs767312772 336 N>S No ExAC
TOPMed
gnomAD
rs751221009 339 R>Q No ExAC
TOPMed
gnomAD
rs759182637 339 R>W No ExAC
TOPMed
gnomAD
rs762439007 340 N>S No ExAC
gnomAD
rs1193133819 341 I>M No TOPMed
gnomAD
rs773271183 341 I>V No ExAC
gnomAD
rs769785786 344 K>R No ExAC
TOPMed
gnomAD
rs1954150799 345 P>T No TOPMed
rs1454938551 346 T>I No TOPMed
gnomAD
rs776517224 348 N>T No ExAC
gnomAD
rs1954149589 349 F>L No TOPMed
rs1233501644 350 S>I No TOPMed
gnomAD
TCGA novel 352 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs777838110 352 E>D No ExAC
gnomAD
COSM1255843
rs146210501
 352 E>K Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs146210501 352 E>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1563990156 353 S>L No Ensembl
TCGA novel 354 D>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs756577075 355 R>C No ExAC
TOPMed
gnomAD
rs748681327 355 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs756577075 355 R>S No ExAC
TOPMed
gnomAD
rs751530679 356 I>T No TOPMed
gnomAD
rs781598275 356 I>V No ExAC
TOPMed
gnomAD
rs755339000 357 D>E No ExAC
gnomAD
rs1014153336 357 D>G No TOPMed
gnomAD
rs1331665191 357 D>N No TOPMed
gnomAD
rs1954144150 359 M>I No TOPMed
rs1353198773 362 E>G No gnomAD
TCGA novel 362 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs766007800 365 L>F No ExAC
gnomAD
COSM257239
rs371692315
 367 R>* Variant assessed as Somatic; HIGH impact. kidney large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs367896750 367 R>Q No ESP
ExAC
TOPMed
gnomAD
rs764861313 368 E>K No ExAC
gnomAD
rs764861313 368 E>Q No ExAC
gnomAD
rs761820172 369 A>P No ExAC
gnomAD
rs761820172 369 A>T No ExAC
gnomAD
rs763941203 370 L>S No ExAC
gnomAD
rs1563989819 372 S>G No Ensembl
rs1346490413 372 S>N No TOPMed
rs1362206149 372 S>R No TOPMed
gnomAD
rs1262081344 373 Q>R No TOPMed
gnomAD
TCGA novel 374 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1954139359 375 A>T No Ensembl
rs1485905562 376 G>D No gnomAD
rs200024207 376 G>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200024207 376 G>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770993949 378 S>N No ExAC
gnomAD
rs1954137427 379 Q>* No TOPMed
rs368483166 379 Q>H No ESP
ExAC
TOPMed
gnomAD
rs1204977675 379 Q>R No TOPMed
rs1318666012 380 T>P No gnomAD
rs1318666012 380 T>S No gnomAD
rs1456000826 381 T>A No TOPMed
gnomAD
rs1284800216 381 T>I No TOPMed
gnomAD
rs1284800216 381 T>N No TOPMed
gnomAD
rs1954135261 382 Q>H No Ensembl
rs41282417 383 I>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs866702256 384 N>I No TOPMed
rs866702256 384 N>S No TOPMed
COSM1674578
rs1414992383
 385 R>* large_intestine [Cosmic] No cosmic curated
TOPMed
gnomAD
rs888073995 385 R>L No TOPMed
gnomAD
rs888073995 385 R>Q No TOPMed
gnomAD
rs1954132822 386 E>D No Ensembl
rs1362219300 387 G>E No TOPMed
gnomAD
rs139709598 388 S>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1486938889 389 P>S No gnomAD
rs1954130856
COSM1110627
 390 D>A Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs1954130856 390 D>G No TOPMed
rs1346320705 390 D>H No gnomAD
rs1164686382 391 T>P No gnomAD
TCGA novel 392 N>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1459979876 393 R>G No gnomAD
rs755358229 393 R>K No ExAC
TOPMed
gnomAD
TCGA novel 393 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1954128676 394 I>M No TOPMed
rs780496824 394 I>V No ExAC
gnomAD
rs758073293 397 L>F No ExAC
TOPMed
gnomAD
rs780768715 398 E>G No Ensembl
rs1184578875 399 E>K No gnomAD
rs1486719827 400 Q>R No gnomAD
rs756890196 405 Q>R No ExAC
TOPMed
gnomAD
rs1306564074 406 G>E No gnomAD
rs753797148 406 G>R No ExAC
gnomAD
rs1306564074 406 G>V No gnomAD
rs1954124683 407 E>D No TOPMed
rs996995862 410 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1216749502 411 Y>H No TOPMed
gnomAD
rs763878405 413 C>Y No ExAC
TOPMed
gnomAD
rs199704500 415 V>I No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 417 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs192546948 418 A>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs192546948 418 A>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs192546948 418 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs2132573538 419 F>I No Ensembl
rs138516740 420 T>I No ESP
ExAC
TOPMed
gnomAD
rs138516740 420 T>N No ESP
ExAC
TOPMed
gnomAD
COSM2154217 423 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs776787113 423 V>G No ExAC
gnomAD
TCGA novel 424 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1179085000 426 K>R No TOPMed
gnomAD
rs1954119787 427 D>H No Ensembl
rs200613968 427 D>V No 1000Genomes
ExAC
gnomAD
TCGA novel 429 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs780259075 429 V>I No ExAC
TOPMed
gnomAD
rs780259075 429 V>L No ExAC
TOPMed
gnomAD
rs569987566 432 N>K No ExAC
TOPMed
gnomAD
rs370980782 432 N>T No ESP
TOPMed
gnomAD
COSM3433308
rs77150451
 433 E>K Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1954116799 435 Q>* No Ensembl
rs778762556 435 Q>R No ExAC
gnomAD
rs1954115680 437 H>N No Ensembl
rs1954115409 438 K>* No TOPMed
gnomAD
rs776832186 441 E>Q No Ensembl
rs376468427 442 W>* No ESP
ExAC
TOPMed
gnomAD
rs1299427057 443 F>L No TOPMed
gnomAD
rs1312939713 445 M>I No TOPMed
rs1232467396 445 M>T No TOPMed
gnomAD
rs915767148 445 M>V No TOPMed
gnomAD
rs755958827 446 I>F No ExAC
gnomAD
rs992636851 446 I>M No TOPMed
rs1954111988 447 Q>L No Ensembl
rs759394387 450 R>K No ExAC
TOPMed
gnomAD
rs750631509 451 K>N No ExAC
gnomAD
rs765387138 452 A>S No ExAC
TOPMed
gnomAD
rs765387138 452 A>T No ExAC
TOPMed
gnomAD
COSM3848980 456 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3927128
rs1954108690
 456 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs1954108952 456 S>P No TOPMed
COSM1110626
rs1194182598
 458 R>* Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs768828645 458 R>Q No ExAC
TOPMed
gnomAD
rs148142223 461 G>* No ESP
ExAC
TOPMed
gnomAD
rs148142223 461 G>R No ESP
ExAC
TOPMed
gnomAD
rs772548524 462 G>D No ExAC
TOPMed
gnomAD
rs1480756080 462 G>S No gnomAD
rs1476071541 463 T>P No TOPMed
gnomAD
rs1476071541 463 T>S No TOPMed
gnomAD
rs1350492713 464 A>P No gnomAD
rs1416860069 466 L>M No TOPMed
rs1238939275 468 E>K No TOPMed
gnomAD
COSM487616 469 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1954103394 470 P>S No TOPMed
rs779421731 471 Q>R No ExAC
gnomAD
rs748995650 472 H>R No ExAC
gnomAD
rs770669830 472 H>Y No ExAC
TOPMed
gnomAD
TCGA novel
rs1954101481
 473 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1563988025 474 T>I No Ensembl
rs1311277947 477 Q>* No gnomAD
rs147375672 477 Q>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs1954099223 479 K>R No gnomAD
rs142728940 481 E>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1412535917 482 L>F No TOPMed
rs1954097406 483 K>R No TOPMed
rs983063564 484 K>T No TOPMed
gnomAD
rs1954096848 485 C>W No TOPMed
rs1293101889 486 Q>E No TOPMed
rs1183665947 487 C>Y No TOPMed
gnomAD
rs903207904 489 L>R No TOPMed
rs769178563 491 A>T No ExAC
TOPMed
gnomAD
rs1953669210 492 D>G No Ensembl
rs1192940923 492 D>N No gnomAD
rs149402364 493 E>* No ESP
ExAC
TOPMed
gnomAD
rs1953668536 494 V>A No Ensembl
COSM261666 494 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1953668210 495 V>L No gnomAD
rs1953667882 496 F>L No Ensembl
rs780687564 496 F>Y No ExAC
TOPMed
gnomAD
TCGA novel 497 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1953667213 498 Q>R No TOPMed
rs1953666497 500 E>* No Ensembl
rs754873051 501 L>M No ExAC
gnomAD
rs746994795 503 V>L No ExAC
gnomAD
rs746994795 503 V>M No ExAC
gnomAD
rs758276554 505 E>K No ExAC
gnomAD
rs1953663652 506 L>P No TOPMed
gnomAD
rs138849280 507 K>* No ESP
ExAC
TOPMed
gnomAD
rs1335084537 507 K>N No TOPMed
gnomAD
rs1953661959 509 Q>R No Ensembl
rs1588239843 512 M>I No Ensembl
COSM3908544 512 M>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs756294201 512 M>V No ExAC
gnomAD
rs1953660881 513 M>V No TOPMed
rs1953660182 515 Q>E No gnomAD
rs767725843 516 E>* No ExAC
gnomAD
rs371540279 518 K>E No ESP
ExAC
TOPMed
gnomAD
rs1244724762 519 G>A No TOPMed
gnomAD
rs1166960257 521 A>D No gnomAD
COSM1490182 522 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1341837683 523 S>F No TOPMed
TCGA novel 526 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs550945409 527 A>G No 1000Genomes
ExAC
gnomAD
rs550945409 527 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
gnomAD
rs1454224976 528 Q>E No gnomAD
TCGA novel 532 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs147660786 532 R>K No ESP
ExAC
TOPMed
gnomAD
rs746941840 532 R>S No ExAC
gnomAD
rs766736854 534 Q>P No TOPMed
gnomAD
rs766736854 534 Q>R No TOPMed
gnomAD
COSM3659211 536 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1308254432 537 K>I No gnomAD
COSM282237
rs1414592449
 537 K>N Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1374000797 538 I>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1952675747 538 I>V No TOPMed
TCGA novel 539 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1110624 540 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1192030341 541 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs770892449 541 Q>R No ExAC
gnomAD
rs867090787 542 Q>R No Ensembl
rs1952674298 543 L>F No TOPMed
rs1407813175 543 L>H No TOPMed
gnomAD
rs371440040 544 L>H No ESP
ExAC
TOPMed
gnomAD
rs371440040 544 L>P No ESP
ExAC
TOPMed
gnomAD
rs371839444 544 L>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1952672731 546 D>V No gnomAD
rs1252899633 549 S>G No TOPMed
gnomAD
rs1252899633 549 S>R No TOPMed
gnomAD
rs751626818 553 T>R No ExAC
TOPMed
gnomAD
COSM257238 554 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1719306 555 L>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs183482711 559 V>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1323979320 560 T>A No TOPMed
gnomAD
rs1563964477 562 S>* No TOPMed
rs1952668154 563 A>T No Ensembl
rs1952667644 565 E>D No TOPMed
rs749127015 566 N>S No Ensembl
rs762219846 567 C>F No ExAC
TOPMed
gnomAD
rs762219846 567 C>Y No ExAC
TOPMed
gnomAD
rs1288640763 569 D>H No gnomAD
TCGA novel 569 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 570 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1952665491 570 G>R No TOPMed
gnomAD
rs1952664933 571 P>L No TOPMed
rs1952664621 572 D>V No gnomAD
COSM3908543 573 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs368013775 574 R>K No ESP
ExAC
TOPMed
gnomAD
rs775520025 578 R>K No TOPMed
gnomAD
rs1952663126 579 R>G No TOPMed
rs1281188082 580 P>T No TOPMed
rs771529286 581 Y>H No ExAC
TOPMed
gnomAD
rs1952661784 582 T>A No TOPMed
rs2132373394 583 V>A No Ensembl
rs759487755 583 V>I No ExAC
TOPMed
gnomAD
rs759487755 583 V>L No ExAC
TOPMed
gnomAD
rs1474367536 584 P>Q No TOPMed
gnomAD
rs1484624833 584 P>S No gnomAD
rs749034071 585 F>C No ExAC
TOPMed
gnomAD
rs1481234693 585 F>L No Ensembl
rs749034071 585 F>S No ExAC
TOPMed
gnomAD
COSM4831147 586 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3659210
rs1952657954
 588 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
COSM1463307 589 L>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1952657671 590 G>R No Ensembl
rs1196828858 590 G>V No TOPMed
rs1952656801 591 H>R No Ensembl
rs2132372630 593 I>V No Ensembl
rs1563963892 594 Y>C No Ensembl
rs780163512 595 I>M No ExAC
gnomAD
rs140861753 595 I>V No ESP
ExAC
TOPMed
gnomAD
rs2132372390 597 S>L No Ensembl
rs537046371 598 R>K No 1000Genomes
ExAC
gnomAD
COSM6116003 598 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1161925764 599 Q>K No TOPMed
rs1212447189 600 D>H No TOPMed
gnomAD
rs1362531361 600 D>V No TOPMed
gnomAD
TCGA novel 600 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs750925868 603 K>R No ExAC
gnomAD
rs1168896026 605 H>D No TOPMed
rs1273240986 605 H>R No TOPMed
gnomAD
rs370389309 607 S>G No ESP
TOPMed
gnomAD
rs150984973 608 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 608 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs201326496 608 P>T No ExAC
TOPMed
gnomAD
rs1207821907 609 P>L No gnomAD
rs1207821907 609 P>R No gnomAD
TCGA novel 609 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1232764485 610 M>R No TOPMed
gnomAD
rs1232764485 610 M>T No TOPMed
gnomAD
rs776485584 610 M>V No ExAC
TOPMed
gnomAD
rs560511993 611 Y>* No 1000Genomes
TOPMed
rs142641392 612 S>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1332245616 612 S>P No TOPMed
rs774392277 614 D>N No ExAC
gnomAD
rs774392277 614 D>Y No ExAC
gnomAD
rs1371528379 615 R>* No TOPMed
gnomAD
rs1310085211 615 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1952430538 615 R>SI* No Ensembl
rs574858708 616 I>M No 1000Genomes
ExAC
gnomAD
rs762558596 616 I>V No Ensembl
rs1319665719 618 A>S No TOPMed
rs1952429150 619 G>A No gnomAD
rs1952429150 619 G>E No gnomAD
rs749789850 619 G>R No ExAC
gnomAD
COSM3659209
rs148451065
COSM3659208
 621 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs375590529
COSM1463306
 621 R>Q large_intestine [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1952428176 622 T>A No gnomAD
rs1379231698 622 T>I No gnomAD
rs748394033 623 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs748394033 623 R>G No ExAC
TOPMed
gnomAD
COSM1212450
COSM3908542
rs367944774
 623 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
gnomAD
rs754542614 624 S>C No ExAC
gnomAD
rs993037050 624 S>N No TOPMed
gnomAD
rs1483150342 626 M>L No TOPMed
gnomAD
rs544396672 626 M>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs758038163 627 L>M No ExAC
gnomAD
rs749964270 627 L>P No ExAC
TOPMed
gnomAD
rs1193440438 629 G>D No Ensembl
rs765013499 631 I>V No ExAC
TOPMed
gnomAD
COSM6183823
COSM6183824
 634 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs753527642 634 Q>L No ExAC
TOPMed
gnomAD
rs753527642 634 Q>R No ExAC
TOPMed
gnomAD
COSM4927919
rs763998301
COSM4927920
 636 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1952422708 637 V>D No Ensembl
rs1952422960 637 V>I No Ensembl
rs577155251 638 L>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs577155251 638 L>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1952421974 639 H>Y No TOPMed
gnomAD
rs1952420588 640 C>* No Ensembl
rs1170958659 640 C>R No Ensembl
rs1401563486 640 C>Y No TOPMed
gnomAD
rs1015883192 641 Q>R No TOPMed
gnomAD
rs1404341011 644 D>G No TOPMed
gnomAD
rs770987050 645 N>S No ExAC
gnomAD
rs773284705 646 S>G No ExAC
TOPMed
gnomAD
rs773284705 646 S>R No ExAC
TOPMed
gnomAD
COSM3659206
COSM3659205
 648 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs187689772 648 D>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs1160683485 648 D>H No TOPMed
gnomAD
rs1160683485 648 D>N No TOPMed
gnomAD
RCV000926431
rs187689772
 648 D>V No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1160683485 648 D>Y No TOPMed
gnomAD
rs1416635822 650 E>Q No gnomAD
rs769106774 651 S>* No ExAC
TOPMed
gnomAD
rs146702826 651 S>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146702826 651 S>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146702826 651 S>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1952416548 653 G>D No Ensembl
rs746658775 654 Q>K No ExAC
gnomAD
rs1952415694 654 Q>R No TOPMed
COSM1110622
COSM4869676
 655 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1191407851 655 E>K No TOPMed
gnomAD
rs1287671817 656 K>E No TOPMed
rs1487527130 657 S>Y No TOPMed
CA5103037
RCV000454440
rs13289566
 658 G>E No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1952413882 659 T>A No TOPMed
rs758126112 660 R>G No ExAC
TOPMed
gnomAD
rs771798020 660 R>S No ExAC
TOPMed
gnomAD
rs1270129058 660 R>T No gnomAD
rs1363012307 661 C>S No TOPMed
gnomAD
rs1952344336 661 C>W No Ensembl
rs745564312 661 C>Y No ExAC
TOPMed
gnomAD
rs190657428 662 R>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM754007
COSM4860180
 662 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs756856861 664 R>C No ExAC
TOPMed
gnomAD
rs535421391 664 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777710144 665 S>P No ExAC
gnomAD
rs756051676 667 I>L No ExAC
gnomAD
COSM6116005
COSM6116004
 667 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM456164
COSM4815742
 668 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1379133426 670 P>R No TOPMed
gnomAD
rs139819631 672 S>C No ESP
ExAC
gnomAD
rs762013627 679 L>M No ExAC
TOPMed
gnomAD
rs201164159 683 Q>R No 1000Genomes
rs570677869 684 D>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs1195075544 686 T>A No TOPMed
gnomAD
rs1195075544 686 T>P No TOPMed
gnomAD
rs762929444 687 Q>L No ExAC
gnomAD
rs762929444 687 Q>R No ExAC
gnomAD
rs772604037 690 D>Y No ExAC
gnomAD
rs1347014094 691 L>S No TOPMed
gnomAD
COSM6116007
COSM6116006
 692 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1272580868 693 N>K No gnomAD
rs1952336959 693 N>S No Ensembl
rs745511203 695 D>N No ExAC
gnomAD
rs1268178135 698 I>M No TOPMed
rs1156987912 698 I>V No gnomAD
rs781168308 699 D>G No ExAC
TOPMed
gnomAD
rs1473700057 699 D>H No TOPMed
gnomAD
rs768597394 701 L>F No ExAC
gnomAD
rs779731823 702 Q>* No ExAC
TOPMed
gnomAD
rs1442891004 702 Q>H No gnomAD
rs951236153 705 Q>R No TOPMed
gnomAD
COSM3848979
COSM1110621
 706 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1330844231 707 L>* No gnomAD
rs554432970 708 N>D No 1000Genomes
ExAC
gnomAD
rs1212670856 709 L>F No TOPMed
gnomAD
rs756317975 710 Q>E No ExAC
gnomAD
rs1486137261 711 K>Q No gnomAD
rs1449445659 712 L>* No TOPMed
gnomAD
rs2132299319 712 L>I No Ensembl
rs1318640583 713 K>N No gnomAD
rs752836636 713 K>R No ExAC
TOPMed
gnomAD
rs867801714 715 S>* No Ensembl
COSM1331466
rs138059115
 717 R>C ovary [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766704130 717 R>H No ExAC
TOPMed
gnomAD
rs766704130 717 R>L No ExAC
TOPMed
gnomAD
rs138059115 717 R>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1404604246 718 I>V No gnomAD
rs541364399 720 T>P No 1000Genomes
ExAC
gnomAD
rs772918709 722 A>T No ExAC
gnomAD
rs769282175 725 K>R No ExAC
gnomAD
TCGA novel 726 M>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM6116009
COSM6116008
 726 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1463305
COSM5100795
 726 M>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1247329101 726 M>T No gnomAD
COSM1331467
rs543373060
 727 R>T ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs868641474 728 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs868641474 728 E>K No TOPMed
gnomAD
rs1315186909 730 T>I No TOPMed
gnomAD
rs1315186909 730 T>K No TOPMed
gnomAD
rs776146281 731 I>V No ExAC
TOPMed
gnomAD
rs746966836 733 I>F No ExAC
TOPMed
gnomAD
rs746966836 733 I>V No ExAC
TOPMed
gnomAD
rs1415739171 734 K>T No TOPMed
gnomAD
rs139434047 735 M>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139434047 735 M>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs749510445 736 K>R No ExAC
TOPMed
gnomAD
rs150902888 738 D>H No ESP
ExAC
TOPMed
gnomAD
rs1296041458 739 L>M No TOPMed
gnomAD
rs1952172059 739 L>R No TOPMed
gnomAD
rs1296041458 739 L>V No TOPMed
gnomAD
rs1365995874 744 I>M No TOPMed
gnomAD
rs2132297747 744 I>T No Ensembl
rs752785370 745 K>Q No ExAC
gnomAD
COSM3908537
COSM3908536
 747 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs772057381 748 N>S No ExAC
TOPMed
gnomAD
rs202151820 749 D>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774317958 750 A>V No ExAC
gnomAD
rs1588155591 751 K>E No Ensembl
rs1951885472 751 K>N No Ensembl
rs1951885734 751 K>T No Ensembl
rs1422398093 753 V>I No TOPMed
gnomAD
rs1951884013 755 K>R No TOPMed
gnomAD
rs189628967 756 Q>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs1430950474 758 S>F No gnomAD
rs781303597 758 S>P No ExAC
gnomAD
rs1482497079 760 K>Q No TOPMed
gnomAD
rs747540513 761 V>I No ExAC
TOPMed
gnomAD
rs1214002721 762 T>A No gnomAD
rs1317996326 764 L>P No TOPMed
rs1951881278 764 L>V No Ensembl
rs1951880160 765 E>D No TOPMed
rs368787925 765 E>G No ESP
ExAC
gnomAD
rs879897580 768 A>S No TOPMed
gnomAD
rs879897580 768 A>T No TOPMed
gnomAD
rs758953455 769 E>G No ExAC
TOPMed
gnomAD
COSM4834680
COSM4834681
 769 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1255917235 771 A>G No gnomAD
rs750733298 772 K>E No ExAC
TOPMed
gnomAD
rs1313999918 773 V>A No gnomAD
rs756868923 774 E>* No ExAC
TOPMed
gnomAD
COSM3848978
rs756868923
COSM1212446
 774 E>K Variant assessed as Somatic; MODERATE impact. large_intestine breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs763645542 776 I>M No ExAC
TOPMed
gnomAD
rs1286243481 776 I>T No TOPMed
gnomAD
rs760044042 777 E>Q No ExAC
TOPMed
gnomAD
rs551413413 778 T>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs551413413 778 T>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs767316258 781 Q>H No ExAC
gnomAD
rs1564368205 781 Q>K No Ensembl
rs1951875829 783 Q>P No TOPMed
rs2132251973 787 N>D No Ensembl
rs774266514 788 K>E No ExAC
gnomAD
rs770892402 788 K>R No ExAC
gnomAD
rs748377938 789 D>E No ExAC
TOPMed
gnomAD
rs532983093 790 L>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs780216959 795 M>I No ExAC
rs746997899 795 M>T No ExAC
gnomAD
rs374771696 795 M>V No ESP
ExAC
TOPMed
gnomAD
rs746410542 797 V>I No ExAC
TOPMed
gnomAD
rs746410542 797 V>L No ExAC
TOPMed
gnomAD
rs779242004 799 L>F No ExAC
TOPMed
gnomAD
COSM4870082
COSM1110620
 800 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1951870526 802 E>* No TOPMed
COSM1212447
rs754214393
 804 R>C large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs371848145 804 R>H No ESP
ExAC
TOPMed
gnomAD
rs371848145 804 R>L No ESP
ExAC
TOPMed
gnomAD
rs754214393 804 R>S No ExAC
TOPMed
gnomAD
rs752099024 805 K>E No ExAC
gnomAD
rs767105041 805 K>R No ExAC
TOPMed
gnomAD
rs759515743 806 K>E No ExAC
gnomAD
rs759515743 806 K>Q No ExAC
gnomAD
rs946063233 807 M>I No TOPMed
gnomAD
rs774499624 808 D>G No ExAC
gnomAD
rs774499624 808 D>V No ExAC
gnomAD
rs1951867885 809 A>T No TOPMed
rs1951867633 810 A>T No gnomAD
rs1951867374 810 A>V No Ensembl
rs540980899 811 K>E No 1000Genomes
ExAC
gnomAD
rs879022136 812 L>V No TOPMed
gnomAD
COSM4862386
COSM754008
 813 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1160891774 813 R>S No TOPMed
gnomAD
rs1054433149 815 Q>E No TOPMed
gnomAD
rs755700582 816 V>G No ExAC
gnomAD
rs200139828 818 Q>* No TOPMed
gnomAD
rs200139828 818 Q>E No TOPMed
gnomAD
rs537443766 820 K>Q No ExAC
TOPMed
gnomAD
rs754596155 820 K>R No ExAC
gnomAD
rs12686150 821 Q>H No Ensembl
TCGA novel 822 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs766356232 822 Q>L No ExAC
gnomAD
rs763019549 826 K>N No ExAC
gnomAD
rs1951583856 826 K>T No Ensembl
rs376225572 829 S>L No ESP
TOPMed
gnomAD
rs1414364725 830 L>V No TOPMed
rs1223017955 831 S>P No gnomAD
COSM1110619
COSM4863823
 832 I>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs765116309 833 Q>H No ExAC
gnomAD
rs760799438 834 N>K No ExAC
TOPMed
gnomAD
rs772293053 835 E>D No ExAC
TOPMed
gnomAD
rs371881517 837 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1362596650 837 R>H No TOPMed
rs1398221802 838 A>T No TOPMed
gnomAD
rs1951580653 838 A>V No Ensembl
TCGA novel 840 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1110618
COSM4869577
 842 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs771377650 845 V>I No ExAC
TOPMed
gnomAD
rs1436957339 846 D>E No TOPMed
rs777969757 848 M>L No ExAC
TOPMed
gnomAD
rs777969757 848 M>V No ExAC
TOPMed
gnomAD
rs556438812 849 K>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs1168631219 850 Y>* No gnomAD
rs568433898 850 Y>H No Ensembl
rs1477720009 851 Q>* No gnomAD
rs1477720009 851 Q>E No gnomAD
rs1327319732 851 Q>R No gnomAD
rs1951576317 852 K>T No TOPMed
rs1951575821 853 I>V No TOPMed
rs1269337789 854 Q>E No gnomAD
COSM3908534
COSM3908535
 855 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs946769129 855 L>P No TOPMed
rs754684305 857 R>T No ExAC
gnomAD
rs1564361742 858 K>* No Ensembl
rs538049404 858 K>N No 1000Genomes
ExAC
rs779736930
COSM5998273
COSM487614
 860 R>* Variant assessed as Somatic; HIGH impact. kidney [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200952027 860 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs761608802 861 E>D No ExAC
gnomAD
rs570508641 861 E>K No 1000Genomes
ExAC
gnomAD
rs1173294339 862 E>K No gnomAD
rs1951571369 863 N>H No Ensembl
rs1452806491 863 N>K No gnomAD
rs1254976775 864 E>K No gnomAD
rs753577567 865 K>E No ExAC
gnomAD
COSM3908533
COSM3908532
 866 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs777107884 866 R>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs767684781 868 Q>K No ExAC
TOPMed
gnomAD
rs1330113964 869 L>R No gnomAD
rs2132195336 870 D>V No Ensembl
rs1951569474 870 D>Y No Ensembl
rs1262040309 873 I>V No TOPMed
rs774392358 875 R>Q No ExAC
TOPMed
gnomAD
rs759775007 875 R>W No ExAC
TOPMed
gnomAD
rs1174322850 877 Q>P No gnomAD
rs148346061 878 Q>E No ESP
gnomAD
rs937311433 878 Q>R No 1000Genomes
TOPMed
gnomAD
rs1951567366 880 I>L No TOPMed
rs1411490157 881 K>E No gnomAD
rs1477895817 881 K>R No Ensembl
rs1372457518 882 E>K No Ensembl
rs554584854 883 I>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1294594800 884 Q>E No TOPMed
rs1294594800 884 Q>K No TOPMed
rs769187432 887 T>A No ExAC
TOPMed
gnomAD
rs769187432 887 T>P No ExAC
TOPMed
gnomAD
rs1445121618 888 G>E No TOPMed
gnomAD
rs1588100908 888 G>R No TOPMed
gnomAD
rs1445121618 888 G>V No TOPMed
gnomAD
rs1186057078 889 Q>E No gnomAD
rs775221357 889 Q>R No ExAC
TOPMed
gnomAD
rs771625385 890 E>K No ExAC
gnomAD
rs745341493 892 G>C No ExAC
TOPMed
gnomAD
rs745341493 892 G>S No ExAC
TOPMed
gnomAD
rs1950696821 892 G>V No Ensembl
COSM4696114
rs777539862
 895 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs777539862 895 P>R No ExAC
TOPMed
gnomAD
COSM3996652 896 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs752504536 896 K>E No ExAC
TOPMed
gnomAD
rs1483659279 897 A>P No gnomAD
rs1483659279 897 A>T No gnomAD
rs758582460 899 D>E No ExAC
TOPMed
gnomAD
rs1950694891 899 D>Y No Ensembl
rs750470392 900 L>P No ExAC
TOPMed
gnomAD
rs1326534482 902 A>G No TOPMed
gnomAD
rs1347931941 903 C>R No TOPMed
gnomAD
rs1588100396 906 K>E No Ensembl
rs1564342469 907 R>M No Ensembl
rs754449375 908 R>K No ExAC
TOPMed
gnomAD
COSM1314977 910 G>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1369860696 910 G>C No TOPMed
gnomAD
rs1166245954 910 G>V No TOPMed
gnomAD
TCGA novel 911 S>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1950690661 913 G>V No TOPMed
rs1313346740 915 I>T No Ensembl
rs374535082 915 I>V No ESP
ExAC
TOPMed
gnomAD
rs1315855042 916 D>A No gnomAD
rs1950689528 917 H>Y No TOPMed
rs1304226749 918 L>I No TOPMed
gnomAD
rs1304226749 918 L>V No TOPMed
gnomAD
rs1476815611 919 Q>* No gnomAD
rs1476815611 919 Q>E No gnomAD
rs1255977149 919 Q>H No TOPMed
gnomAD
rs767822811 921 L>S No ExAC
gnomAD
rs760664750 922 D>H No Ensembl
TCGA novel 923 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs3199679 923 E>K No ExAC
gnomAD
rs1481206400 924 Q>E No gnomAD
rs2132007869 924 Q>R No Ensembl
rs1250506637 925 K>E No Ensembl
COSM1110617
rs141746868
 925 K>N endometrium [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1058995 927 W>* No ExAC
TOPMed
gnomAD
rs770574285 927 W>R No ExAC
gnomAD
rs772729594 928 L>S No ExAC
gnomAD
rs769677258 932 V>A No ExAC
TOPMed
gnomAD
rs894473317 932 V>I No TOPMed
rs1950494100 933 E>Q No gnomAD
rs1950493875 935 V>I No Ensembl
COSM3848975 937 N>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM197498
rs3199677
 939 R>C Variant assessed as Somatic; MODERATE impact. large_intestine central_nervous_system breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3908531
rs566128018
 939 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1301815809 940 Q>R No gnomAD
TCGA novel 941 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs772944172 941 E>Q No ExAC
TOPMed
gnomAD
rs1397636455 941 E>V No Ensembl
rs1950492029 943 E>Q No gnomAD
rs376419864 944 E>* No ESP
ExAC
TOPMed
gnomAD
rs376419864 944 E>K No ESP
ExAC
TOPMed
gnomAD
rs778041126 944 E>V No ExAC
gnomAD
rs1410215160 945 L>P No gnomAD
rs1456339726 945 L>V No gnomAD
rs1588087625 946 E>D No Ensembl
TCGA novel 948 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1950490088 948 D>N No TOPMed
rs753202865 952 R>Q No ExAC
TOPMed
gnomAD
rs150370161 952 R>W No ESP
ExAC
TOPMed
gnomAD
rs1243771524 954 A>D No gnomAD
rs1950488288 955 I>M No Ensembl
TCGA novel 955 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs767919306 956 V>F No ExAC
gnomAD
rs755230514 957 S>F No ExAC
gnomAD
rs547806235 958 K>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs898974916 960 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1317519116 961 A>S No gnomAD
rs199552193 961 A>V No TOPMed
gnomAD
rs765966415 964 Q>* No ExAC
gnomAD
rs762623494 966 K>T No ExAC
TOPMed
gnomAD
rs1950485698 967 S>N No Ensembl
rs772676294 968 H>N No ExAC
TOPMed
gnomAD
rs772676294 968 H>Y No ExAC
TOPMed
gnomAD
rs529234359 970 E>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs1950484783 970 E>G No Ensembl
rs370947696 973 K>T No ESP
TOPMed
gnomAD
rs1949619359 979 A>V No Ensembl
rs796393799 982 T>K No Ensembl
rs1949617336 987 I>T No TOPMed
rs79324787 987 I>V No 1000Genomes
ESP
ExAC
gnomAD
rs1252514656 988 S>P No TOPMed
gnomAD
rs748127848 990 R>C No ExAC
TOPMed
gnomAD
rs748127848 990 R>G No ExAC
TOPMed
gnomAD
rs146715557 990 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146715557 990 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1281839497 992 N>D No gnomAD
rs201841310 994 L>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs1426447593 994 L>P No TOPMed
gnomAD
rs201841310 994 L>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs749998476
COSM3943100
 995 E>Q oesophagus [Cosmic] No cosmic curated
ExAC
gnomAD
rs1032402004 996 Q>* No Ensembl
rs143276779 996 Q>R No ESP
ExAC
TOPMed
gnomAD
rs1391407824 997 E>A No TOPMed
rs139839095 997 E>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs117193939 998 L>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1316146865 1000 E>V No TOPMed
COSM3780147 1001 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs760518358 1002 N>D No ExAC
TOPMed
gnomAD
rs760518358 1002 N>H No ExAC
TOPMed
gnomAD
rs142530672 1002 N>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1949612358 1003 V>A No Ensembl
rs377534036 1003 V>M No ESP
TOPMed
rs1949612116 1005 L>F No Ensembl
rs767566638 1008 S>G No ExAC
gnomAD
rs759346153 1009 T>A No ExAC
TOPMed
gnomAD
rs1949610997 1009 T>R No TOPMed
rs774309586 1010 A>D No ExAC
TOPMed
gnomAD
COSM3848974 1010 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs774309586 1010 A>V No ExAC
TOPMed
gnomAD
rs769866788 1012 E>K No ExAC
TOPMed
gnomAD
rs1437410140 1014 T>R No TOPMed
TCGA novel
rs1435939094
 1015 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No gnomAD
NCI-TCGA
rs1949608472 1016 I>T No TOPMed
COSM3927127 1017 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2131855604 1018 E>K No Ensembl
TCGA novel 1019 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1949607615 1020 V>A No Ensembl
rs1949607376 1021 E>D No TOPMed
rs776548762 1021 E>K No ExAC
TOPMed
gnomAD
rs776548762 1021 E>Q No ExAC
TOPMed
gnomAD
COSM487613 1022 V>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs796778171 1023 L>I No Ensembl
rs1343941050 1023 L>P No gnomAD
rs1225790587 1026 E>A No gnomAD
rs1260831650 1026 E>K No TOPMed
gnomAD
rs1324746052 1027 K>E No TOPMed
gnomAD
rs111906484 1027 K>R No ExAC
TOPMed
gnomAD
rs747506325 1028 D>E No ExAC
gnomAD
rs1265813464 1028 D>N No TOPMed
gnomAD
rs1564316054 1030 L>F No Ensembl
rs765041527 1033 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs144855861 1033 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs144855861 1033 R>L No ESP
ExAC
TOPMed
gnomAD
rs746194165 1035 H>Q No ExAC
TOPMed
gnomAD
rs55654273
COSM3764032
RCV000454897
CA5102699
VAR_061286
 1036 N>D large_intestine [Cosmic] No ClinGen
cosmic curated
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1178877821 1036 N>I No TOPMed
gnomAD
rs1178877821 1036 N>S No TOPMed
gnomAD
rs1429741091 1037 V>L No gnomAD
rs753586591 1038 D>G No ExAC
gnomAD
rs756839697 1038 D>N No ExAC
rs1450841205 1039 E>D No TOPMed
COSM3375299 1040 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1949601520 1040 K>Q No gnomAD
rs1314967201 1041 L>F No TOPMed
gnomAD
rs755585990 1042 K>E No ExAC
gnomAD
rs147288435 1043 N>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1949600065 1044 G>D No TOPMed
gnomAD
TCGA novel 1044 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1949600065 1044 G>V No TOPMed
gnomAD
rs767513341 1045 R>G No ExAC
gnomAD
rs201289514 1045 R>T No TOPMed
gnomAD
rs759576962 1048 S>* No ExAC
TOPMed
gnomAD
rs2072444257 1048 S>P No Ensembl
rs761925902 1049 P>H No ExAC
TOPMed
gnomAD
rs761925902 1049 P>L No ExAC
TOPMed
gnomAD
rs766244397 1049 P>S No ExAC
TOPMed
gnomAD
rs766244397 1049 P>T No ExAC
TOPMed
gnomAD
TCGA novel 1051 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs143915976 1053 H>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143915976 1053 H>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1948878824 1053 H>Y No Ensembl
rs111290584 1054 V>I No gnomAD
COSM1212449
rs1184436591
 1055 L>I large_intestine [Cosmic] No cosmic curated
gnomAD
rs1476150820 1056 F>L No gnomAD
rs1948877426 1057 Q>* No Ensembl
rs766080244 1057 Q>H No ExAC
TOPMed
gnomAD
rs758141623 1058 L>F No ExAC
TOPMed
gnomAD
rs1409748478 1059 E>G No TOPMed
gnomAD
rs370735815 1059 E>K No TOPMed
gnomAD
rs370735815 1059 E>Q No TOPMed
gnomAD
rs2131745224 1060 E>G No Ensembl
rs369251410 1061 G>R No ESP
ExAC
TOPMed
gnomAD
rs295274 1062 I>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1948874571 1064 A>T No Ensembl
rs1948874034 1066 E>G No gnomAD
rs1455909631 1067 A>T No TOPMed
rs1337254877 1068 A>E No TOPMed
gnomAD
rs775528711 1068 A>P No ExAC
gnomAD
rs1337254877 1068 A>V No TOPMed
gnomAD
rs371974528 1069 I>T No ESP
ExAC
TOPMed
gnomAD
rs767645576 1069 I>V No ExAC
gnomAD
TCGA novel 1070 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1948871669 1072 R>K No TOPMed
rs774856531 1073 N>K No ExAC
gnomAD
rs1948871132 1074 E>G No Ensembl
rs749616984 1076 I>N No ExAC
gnomAD
rs1404071284 1078 N>Y No gnomAD
rs773480141 1079 R>C No ExAC
TOPMed
gnomAD
rs950185206 1079 R>H No TOPMed
gnomAD
rs950185206 1079 R>L No TOPMed
gnomAD
TCGA novel 1080 Q>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2131744161 1082 S>* No Ensembl
rs879094423 1083 L>F No Ensembl
rs1425175132 1083 L>H No gnomAD
rs1350191666 1084 R>T No TOPMed
gnomAD
rs1353417932 1085 A>T No gnomAD
rs1948868448 1085 A>V No Ensembl
rs917532006 1088 H>R No TOPMed
rs1411363040 1088 H>Y No gnomAD
rs1948867169 1089 N>I No TOPMed
TCGA novel 1091 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs529481603
COSM1110616
 1092 R>C Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs529481603 1092 R>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs747850098 1092 R>H No ExAC
TOPMed
gnomAD
rs747850098 1092 R>L No ExAC
TOPMed
gnomAD
rs529481603 1092 R>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1948865876 1093 G>S No Ensembl
rs1948865067 1094 E>* No TOPMed
gnomAD
rs1948865067 1094 E>K No TOPMed
gnomAD
rs780834995 1095 A>E No ExAC
TCGA novel 1095 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs565946178 1096 N>D No ExAC
TOPMed
gnomAD
rs779980486 1100 K>E No ExAC
gnomAD
rs1206706411 1101 L>I No TOPMed
gnomAD
rs1206706411 1101 L>V No TOPMed
gnomAD
rs1308376362 1102 A>V No gnomAD
rs1948861881 1103 C>F No gnomAD
rs756317575 1105 S>C No ExAC
gnomAD
rs752987077 1105 S>T No ExAC
TOPMed
gnomAD
TCGA novel 1107 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1203198561 1109 I>M No TOPMed
rs1443702696 1110 R>G No TOPMed
gnomAD
rs1948859437 1110 R>S No Ensembl
rs1354803310 1110 R>T No TOPMed
gnomAD
rs909861058 1111 T>A No TOPMed
rs759556164 1112 I>L No ExAC
TOPMed
gnomAD
rs759556164 1112 I>V No ExAC
TOPMed
gnomAD
rs1948858263 1113 L>I No TOPMed
gnomAD
rs531876952 1114 F>L No 1000Genomes
ExAC
gnomAD
TCGA novel 1118 N>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs763409241 1118 N>S No ExAC
gnomAD
rs1948395100 1120 V>M No Ensembl
rs772028568 1121 V>L No ExAC
gnomAD
rs1237447458 1123 L>V No TOPMed
gnomAD
rs1303828659 1124 R>* No TOPMed
gnomAD
rs1303828659 1124 R>G No TOPMed
gnomAD
rs745853642 1124 R>Q No ExAC
gnomAD
rs778677386 1125 E>Q No ExAC
gnomAD
rs1390164598 1126 A>G No gnomAD
rs1420165059 1127 E>K No gnomAD
rs368566567 1128 R>Q No ESP
ExAC
TOPMed
gnomAD
rs756981018 1128 R>W No ExAC
TOPMed
gnomAD
rs1948391802 1129 K>T No Ensembl
rs778425748 1130 Q>R No Ensembl
rs1446716258 1131 Q>* No gnomAD
rs1948389914 1132 L>* No Ensembl
rs1200882258 1132 L>V No gnomAD
rs141429420 1133 Y>* No ESP
ExAC
TOPMed
gnomAD
rs1055187908 1133 Y>C No TOPMed
gnomAD
rs781343039 1133 Y>H No ExAC
TOPMed
gnomAD
rs1354264977 1134 N>S No gnomAD
COSM1212448 1136 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1136 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1243092484 1136 E>K No TOPMed
gnomAD
TCGA novel 1138 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1384622492 1139 M>I No TOPMed
gnomAD
TCGA novel 1139 M>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1948387283 1142 L>R No TOPMed
gnomAD
rs763502349 1144 R>L No ExAC
gnomAD
rs763502349 1144 R>Q No ExAC
gnomAD
COSM456163
rs370478477
 1144 R>W Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1383304001 1145 D>N No gnomAD
rs751037465 1146 N>K No ExAC
TOPMed
gnomAD
rs1948385156 1147 M>I No TOPMed
rs58077086
CA5102618
RCV000455471
 1147 M>V No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1948384892 1148 V>I No TOPMed
rs762208623 1149 R>C No ExAC
TOPMed
gnomAD
rs762208623 1149 R>G No ExAC
TOPMed
gnomAD
rs377569727 1149 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs377569727 1149 R>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1444177147 1151 L>* No TOPMed
gnomAD
rs775056643 1152 E>Q No ExAC
TOPMed
gnomAD
rs375552082 1153 S>P No ESP
ExAC
gnomAD
rs1426920114 1154 A>V No gnomAD
rs1259424425 1155 L>P No gnomAD
rs1384078903 1155 L>V No TOPMed
gnomAD
rs1450639451 1156 D>N No TOPMed
rs1948380493
TCGA novel
 1161 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs749043182 1162 C>G No ExAC
gnomAD
rs749043182 1162 C>R No ExAC
gnomAD
rs71502726 1164 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs71502726 1164 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs377744428 1164 R>W No 1000Genomes
ExAC
TOPMed
gnomAD
rs780176063 1168 L>H No ExAC
gnomAD
rs1948378136 1169 Q>R No TOPMed
gnomAD
rs201858465 1170 Q>L No TOPMed
gnomAD
rs201858465 1170 Q>R No TOPMed
gnomAD
rs750542303 1172 E>K No ExAC
TOPMed
gnomAD
rs1391582977
COSM3930166
 1174 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1391582977 1174 E>Q No TOPMed
gnomAD
rs955291544 1175 Q>* No TOPMed
gnomAD
rs955291544 1175 Q>E No TOPMed
gnomAD
rs955291544 1175 Q>K No TOPMed
gnomAD
rs371296942 1178 Q>E No ESP
ExAC
TOPMed
gnomAD
rs1406375197 1178 Q>H No TOPMed
rs764428820 1178 Q>R No ExAC
gnomAD
TCGA novel 1180 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1022499611 1181 L>* No TOPMed
rs1948373003 1182 H>Y No TOPMed
TCGA novel 1183 H>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs759000017 1183 H>Y No ExAC
TOPMed
gnomAD
rs1267501956 1184 F>L No gnomAD
rs544615598 1184 F>Y No 1000Genomes
ExAC
TOPMed
gnomAD
COSM1701265
rs1948371357
 1186 E>K skin [Cosmic] No cosmic curated
TOPMed
rs1400392636 1191 G>C No TOPMed
rs765929828 1192 I>S No ExAC
gnomAD
rs762873465 1195 T>S No ExAC
gnomAD
rs1365751041 1196 F>L No TOPMed
gnomAD
rs1298457265 1196 F>Y No Ensembl
rs554621908 1198 T>K No 1000Genomes
ExAC
rs1414500674 1199 Y>* No gnomAD
rs1946673147 1199 Y>C No TOPMed
rs747845313 1199 Y>H No ExAC
gnomAD
rs776518666 1200 E>A No ExAC
gnomAD
rs772150791 1201 D>N No ExAC
rs779132941 1202 K>N No ExAC
gnomAD
rs749396761 1205 Q>H No ExAC
TOPMed
gnomAD
rs757343170 1205 Q>P No ExAC
gnomAD
rs1946670905 1207 E>Q No TOPMed
gnomAD
rs778094907 1207 E>V No ExAC
TOPMed
gnomAD
rs1402572716 1209 D>H No gnomAD
rs1402572716 1209 D>N No gnomAD
rs1946670062 1210 L>H No TOPMed
rs1331838704 1211 Y>* No TOPMed
gnomAD
rs756676470 1211 Y>H No ExAC
TOPMed
gnomAD
rs752975744 1213 Y>C No ExAC
gnomAD
rs1187220292 1213 Y>H No TOPMed
gnomAD
COSM422329 1214 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3848973 1214 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs542484683 1216 T>I No 1000Genomes
ExAC
gnomAD
rs1434097150 1218 R>Q No TOPMed
COSM3908530
rs376993923
 1218 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1178714065 1220 H>D No TOPMed
gnomAD
rs1212749655 1221 K>* No gnomAD
rs1946666295 1221 K>T No Ensembl
COSM1110615 1222 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1946665841 1222 K>R No Ensembl
rs200646527 1223 K>Q No TOPMed
gnomAD
TCGA novel 1223 K>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs762391417 1228 V>A No ExAC
gnomAD
rs1390923807 1228 V>I No TOPMed
gnomAD
rs1946663476 1230 E>* No TOPMed
rs146464985 1233 R>Q No ESP
ExAC
TOPMed
gnomAD
rs1317446725
COSM261665
 1233 R>W Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs761847847 1234 R>L No ExAC
TOPMed
gnomAD
rs761847847
COSM4928715
 1234 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs368997037 1234 R>W No ESP
ExAC
TOPMed
gnomAD
rs1054489880 1238 P>S No gnomAD
rs199566689 1241 Y>H No ESP
ExAC
TOPMed
gnomAD
rs1166269708 1242 Q>H No TOPMed
gnomAD
rs2542780 1243 E>K No TOPMed
gnomAD
rs1418348597 1246 D>G No TOPMed
gnomAD
rs919485448 1247 G>R No TOPMed
rs1946010451 1250 K>Q No TOPMed
rs1350413295 1252 E>G No TOPMed
gnomAD
COSM4897076 1253 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1564256360 1256 M>L No Ensembl
rs1946005577 1258 S>L No Ensembl
rs1489988620 1259 E>K No gnomAD
rs1248579450 1259 E>V No gnomAD
rs149899595 1260 E>G No ESP
ExAC
TOPMed
gnomAD
rs753745000 1261 L>* No ExAC
gnomAD
rs764144016 1262 K>I No ExAC
TOPMed
gnomAD
rs1946002046 1263 W>* No Ensembl
rs1946001522 1265 S>C No TOPMed
rs1946000518 1267 P>A No Ensembl
rs775457038 1268 E>A No ExAC
TOPMed
gnomAD
rs540787693 1268 E>K No 1000Genomes
ExAC
gnomAD
rs540787693 1268 E>Q No 1000Genomes
ExAC
gnomAD
rs771248074 1269 S>N No ExAC
TOPMed
gnomAD
rs771248074 1269 S>T No ExAC
TOPMed
gnomAD
rs1278556818 1270 M>V No TOPMed
gnomAD
rs2131425507 1271 K>T No Ensembl
TCGA novel 1272 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 1276 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs528796605 1276 E>G No 1000Genomes
ExAC
gnomAD
rs2131425411 1277 R>T No Ensembl
rs201708301 1279 M>T No ExAC
TOPMed
gnomAD
rs1945995793 1282 S>A No Ensembl
rs1294847517 1284 S>G No gnomAD
rs1945994223 1285 S>G No Ensembl
rs1945993159 1286 L>F No TOPMed
gnomAD
rs769982330 1286 L>V No ExAC
gnomAD
rs1458513399 1287 R>K No TOPMed
rs748179128 1288 T>I No ExAC
TOPMed
gnomAD
rs1362287325 1289 Q>R No TOPMed
gnomAD
rs781620659
COSM4164069
 1292 P>L thyroid [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs1466826673 1293 Q>* No TOPMed
gnomAD
rs1945991069 1293 Q>R No Ensembl
rs1469642275 1296 W>R No TOPMed
rs769173452 1297 E>K No ExAC
gnomAD
rs1176133064 1298 D>A No gnomAD
rs140117578 1299 I>S No ESP
ExAC
TOPMed
gnomAD
rs140117578 1299 I>T No ESP
ExAC
TOPMed
gnomAD
rs1945986781 1300 P>Q No Ensembl
rs561598508 1300 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs561598508 1300 P>T No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 1301 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2131424223 1303 P>L No Ensembl
rs1393403730 1305 I>V No TOPMed
rs1945985728 1306 H>Y No Ensembl
TCGA novel 1307 S>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1945985190 1307 S>G No Ensembl
rs778438479 1307 S>I No ExAC
gnomAD
rs778438479 1307 S>T No ExAC
gnomAD
rs756736442 1308 S>F No ExAC
TOPMed
gnomAD
COSM261664 1308 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1945983442 1309 L>S No Ensembl
rs764086639 1311 P>A No ExAC
TOPMed
gnomAD
rs764086639 1311 P>S No ExAC
TOPMed
gnomAD
rs764086639 1311 P>T No ExAC
TOPMed
gnomAD
rs756162275 1312 P>H No ExAC
TOPMed
gnomAD
rs756162275 1312 P>L No ExAC
TOPMed
gnomAD
rs756162275 1312 P>R No ExAC
TOPMed
gnomAD
rs1458343983 1312 P>S No gnomAD
TCGA novel 1313 S>Q Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs775622981
COSM6039561
 1313 S>V Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs752519365 1314 G>E No ExAC
gnomAD
rs767480512 1315 H>R No ExAC
TOPMed
gnomAD
rs1372024316 1316 M>I No TOPMed
gnomAD
rs1159901509 1318 G>R No gnomAD
rs1159901509 1318 G>S No gnomAD
rs763083436 1319 N>Y No ExAC
TOPMed
gnomAD
rs765389677 1320 E>D No ExAC
TOPMed
gnomAD
rs761903243 1321 N>T No ExAC
TOPMed
gnomAD
rs1945973399 1324 E>Q No gnomAD
rs769116359 1325 T>I No ExAC
gnomAD
rs769116359 1325 T>R No ExAC
gnomAD
rs1437459098 1327 D>G No Ensembl
rs1361201084 1327 D>Y No gnomAD
rs1945968904 1328 N>H No gnomAD
rs1418960058 1329 Q>H No gnomAD
rs747561292 1331 T>I No ExAC
TOPMed
gnomAD
rs775815260 1332 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1482156736 1333 S>C No gnomAD
rs1482156736 1333 S>F No gnomAD
rs541489156 1334 H>Q No 1000Genomes
ExAC
gnomAD
rs772417015 1334 H>Y No ExAC
gnomAD
rs371473677 1336 R>* No ExAC
TOPMed
gnomAD
rs369880739 1336 R>Q No ESP
ExAC
TOPMed
gnomAD
rs746336857 1338 S>T No Ensembl
rs1390436829 1339 S>C No TOPMed
gnomAD
rs1390436829 1339 S>F No TOPMed
gnomAD
rs1319020945 1340 Q>* No TOPMed
gnomAD
rs1319020945 1340 Q>E No TOPMed
gnomAD
rs1377255524 1341 I>T No gnomAD
rs1356773992 1342 Q>* No TOPMed
gnomAD
rs1412392606 1342 Q>H No TOPMed
rs1945957026 1342 Q>P No Ensembl
rs1319199604 1343 V>A No TOPMed
rs748776654 1343 V>F No ExAC
TOPMed
gnomAD
rs1393862735 1348 G>E No gnomAD
rs1221074580 1349 R>* No Ensembl
rs777475564 1349 R>Q No ExAC
TOPMed
gnomAD
rs1249944935 1350 L>V No TOPMed
gnomAD
rs904928731 1351 H>L No TOPMed
rs767566257 1352 G>D No ExAC
TOPMed
gnomAD
rs767566257 1352 G>V No ExAC
TOPMed
gnomAD
rs1945950524 1353 V>A No gnomAD
rs1484699358 1355 P>R No TOPMed
rs574356626 1355 P>S No 1000Genomes
TOPMed
gnomAD
rs1945948732 1359 C>R No Ensembl
rs1420401209 1359 C>Y No gnomAD
COSM3220258
rs375822223
 1360 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761977367 1360 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1425730729
COSM3433307
 1362 E>* Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs1425730729 1362 E>Q No TOPMed
gnomAD
rs1258071081 1364 R>C No TOPMed
gnomAD
rs1292479233 1364 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
COSM3659200 1367 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs376463665 1368 A>S No ESP
ExAC
TOPMed
gnomAD
rs376463665 1368 A>T No ESP
ExAC
TOPMed
gnomAD
rs1945942012 1369 L>S No Ensembl
rs1945942383 1369 L>V No TOPMed
rs746207649 1370 E>K No ExAC
rs770595664 1371 L>P No ExAC
TOPMed
gnomAD
rs1242183798 1372 S>* No TOPMed
gnomAD
rs369241220
COSM3726555
 1374 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1945939519 1374 R>L No Ensembl
rs1381997894 1375 R>C No gnomAD
rs777419059 1375 R>H No ExAC
TOPMed
gnomAD
rs1587833398 1377 S>G No gnomAD
rs1587833398 1377 S>R No gnomAD
rs1945935282 1380 V>A No gnomAD
rs142462766 1380 V>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1432436456 1384 S>A No gnomAD
rs932090047 1385 M>V No TOPMed
rs747672794 1386 A>T No ExAC
gnomAD
rs1692312370 1388 D>E No TOPMed
rs1459679335 1389 S>C No gnomAD
COSM3927126 1389 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1161515061 1389 S>P No gnomAD
rs375179706 1391 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs140974886 1393 S>Y No ESP
TOPMed
gnomAD
rs1945930557 1396 P>L No TOPMed
rs1945931268 1396 P>T No Ensembl
rs1195793051 1397 R>K No gnomAD
rs1195793051 1397 R>T No gnomAD
COSM1110614 1398 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1945929217 1398 D>Y No Ensembl
TCGA novel 1400 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1267613573 1400 K>T No TOPMed
gnomAD
rs779758665 1401 T>I No ExAC
gnomAD

No associated diseases with Q86VH2

2 regional properties for Q86VH2

Type Name Position InterPro Accession
domain Kinesin motor domain 3 - 349 IPR001752
conserved_site Kinesin motor domain, conserved site 238 - 249 IPR019821

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, cytoskeleton
  • Cell projection, cilium
  • Localizes to centrioles and basal bodies
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

5 GO annotations of cellular component

Name Definition
cilium A specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface and of some cytoplasmic parts. Each cilium is largely bounded by an extrusion of the cytoplasmic (plasma) membrane, and contains a regular longitudinal array of microtubules, anchored to a basal body.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular region The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite.
kinesin complex Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work.
microtubule Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle.

4 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
ATP hydrolysis activity Catalysis of the reaction
microtubule binding Binding to a microtubule, a filament composed of tubulin monomers.
microtubule motor activity A motor activity that generates movement along a microtubule, driven by ATP hydrolysis.

7 GO annotations of biological process

Name Definition
cilium assembly The assembly of a cilium, a specialized eukaryotic organelle that consists of a filiform extrusion of the cell surface. Each cilium is bounded by an extrusion of the cytoplasmic membrane, and contains a regular longitudinal array of microtubules, anchored basally in a centriole.
epithelial cilium movement involved in extracellular fluid movement The directed, self-propelled movement of cilia of epithelial cells. Depending on the type of cell, there may be one or many cilia per cell. This movement is usually coordinated between many epithelial cells, and serves to move extracellular fluid.
establishment of localization in cell Any process, occuring in a cell, that localizes a substance or cellular component. This may occur via movement, tethering or selective degradation.
microtubule-based movement A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules.
mitotic spindle organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the microtubule spindle during a mitotic cell cycle.
spindle elongation The cell cycle process in which the distance is lengthened between poles of the spindle.
ventricular system development The process whose specific outcome is the progression of the brain ventricular system over time, from its formation to the mature structure. The brain ventricular system consists of four communicating cavities within the brain that are continuous with the central canal of the spinal cord. These cavities include two lateral ventricles, the third ventricle and the fourth ventricle. Cerebrospinal fluid fills the ventricles and is produced by the choroid plexus.

20 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
O95239 KIF4A Chromosome-associated kinesin KIF4A Homo sapiens (Human) SS
Q2VIQ3 KIF4B Chromosome-associated kinesin KIF4B Homo sapiens (Human) SS
P33176 KIF5B Kinesin-1 heavy chain Homo sapiens (Human) EV
O60282 KIF5C Kinesin heavy chain isoform 5C Homo sapiens (Human) EV
Q12840 KIF5A Kinesin heavy chain isoform 5A Homo sapiens (Human) EV
Q2M1P5 KIF7 Kinesin-like protein KIF7 Homo sapiens (Human) EV
Q7Z4S6 KIF21A Kinesin-like protein KIF21A Homo sapiens (Human) EV
O75037 KIF21B Kinesin-like protein KIF21B Homo sapiens (Human) EV
Q9P2E2 KIF17 Kinesin-like protein KIF17 Homo sapiens (Human) EV
O00139 KIF2A Kinesin-like protein KIF2A Homo sapiens (Human) PR
Q9NQT8 KIF13B Kinesin-like protein KIF13B Homo sapiens (Human) EV
Q9H1H9 KIF13A Kinesin-like protein KIF13A Homo sapiens (Human) SS
O43896 KIF1C Kinesin-like protein KIF1C Homo sapiens (Human) SS
Q9QXL1 Kif21b Kinesin-like protein KIF21B Mus musculus (Mouse) SS
Q9QXL2 Kif21a Kinesin-like protein KIF21A Mus musculus (Mouse) EV SS
B7ZNG0 Kif7 Kinesin-like protein KIF7 Mus musculus (Mouse) SS
Q7M6Z4 Kif27 Kinesin-like protein KIF27 Mus musculus (Mouse) SS
F1M5N7 Kif21b Kinesin-like protein KIF21B Rattus norvegicus (Rat) SS
Q7M6Z5 Kif27 Kinesin-like protein KIF27 Rattus norvegicus (Rat) SS
Q58G59 kif7 Kinesin-like protein kif7 Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MEEIPVKVAV RIRPLLCKEA LHNHQVCVRV IPNSQQVIIG RDRVFTFDFV FGKNSTQDEV
70 80 90 100 110 120
YNTCIKPLVL SLIEGYNATV FAYGQTGSGK TYTIGGGHIA SVVEGQKGII PRAIQEIFQS
130 140 150 160 170 180
ISEHPSIDFN VKVSYIEVYK EDLRDLLELE TSMKDLHIRE DEKGNTVIVG AKECHVESAG
190 200 210 220 230 240
EVMSLLEMGN AARHTGTTQM NEHSSRSHAI FTISICQVHK NMEAAEDGSW YSPRHIVSKF
250 260 270 280 290 300
HFVDLAGSER VTKTGNTGER FKESIQINSG LLALGNVISA LGDPRRKSSH IPYRDAKITR
310 320 330 340 350 360
LLKDSLGGSA KTVMITCVSP SSSNFDESLN SLKYANRARN IRNKPTVNFS PESDRIDEME
370 380 390 400 410 420
FEIKLLREAL QSQQAGVSQT TQINREGSPD TNRIHSLEEQ VAQLQGECLG YQCCVEEAFT
430 440 450 460 470 480
FLVDLKDTVR LNEKQQHKLQ EWFNMIQEVR KAVLTSFRGI GGTASLEEGP QHVTVLQLKR
490 500 510 520 530 540
ELKKCQCVLA ADEVVFNQKE LEVKELKNQV QMMVQENKGH AVSLKEAQKV NRLQNEKIIE
550 560 570 580 590 600
QQLLVDQLSE ELTKLNLSVT SSAKENCGDG PDARIPERRP YTVPFDTHLG HYIYIPSRQD
610 620 630 640 650 660
SRKVHTSPPM YSLDRIFAGF RTRSQMLLGH IEEQDKVLHC QFSDNSDDEE SEGQEKSGTR
670 680 690 700 710 720
CRSRSWIQKP DSVCSLVELS DTQDETQKSD LENEDLKIDC LQESQELNLQ KLKNSERILT
730 740 750 760 770 780
EAKQKMRELT INIKMKEDLI KELIKTGNDA KSVSKQYSLK VTKLEHDAEQ AKVELIETQK
790 800 810 820 830 840
QLQELENKDL SDVAMKVKLQ KEFRKKMDAA KLRVQVLQKK QQDSKKLASL SIQNEKRANE
850 860 870 880 890 900
LEQSVDHMKY QKIQLQRKLR EENEKRKQLD AVIKRDQQKI KEIQLKTGQE EGLKPKAEDL
910 920 930 940 950 960
DACNLKRRKG SFGSIDHLQK LDEQKKWLDE EVEKVLNQRQ ELEELEADLK KREAIVSKKE
970 980 990 1000 1010 1020
ALLQEKSHLE NKKLRSSQAL NTDSLKISTR LNLLEQELSE KNVQLQTSTA EEKTKISEQV
1030 1040 1050 1060 1070 1080
EVLQKEKDQL QKRRHNVDEK LKNGRVLSPE EEHVLFQLEE GIEALEAAIE YRNESIQNRQ
1090 1100 1110 1120 1130 1140
KSLRASFHNL SRGEANVLEK LACLSPVEIR TILFRYFNKV VNLREAERKQ QLYNEEMKMK
1150 1160 1170 1180 1190 1200
VLERDNMVRE LESALDHLKL QCDRRLTLQQ KEHEQKMQLL LHHFKEQDGE GIMETFKTYE
1210 1220 1230 1240 1250 1260
DKIQQLEKDL YFYKKTSRDH KKKLKELVGE AIRRQLAPSE YQEAGDGVLK PEGGGMLSEE
1270 1280 1290 1300 1310 1320
LKWASRPESM KLSGREREMD SSASSLRTQP NPQKLWEDIP ELPPIHSSLA PPSGHMLGNE
1330 1340 1350 1360 1370 1380
NKTETDDNQF TKSHSRLSSQ IQVVGNVGRL HGVTPVKLCR KELRQISALE LSLRRSSLGV
1390 1400
GIGSMAADSI EVSRKPRDLK T