Descriptions

Myosin-7 (MYH7, also named Myosin heavy chain, cardiac muscle β isoform) is an actin-based motor molecule with ATPase activity essential for muscle contraction. Several mutations in MYH7 are frequent causes of hypertrophic cardiomyopathy (HCM), a disease characterized by hypercontractility and eventual hypertrophy of the left ventricle. Many HCM-causing mutations appear to reduce myosin's ability to form an autoinhibited state. In an autoinhibited state, the myosin heads fold back onto their own subfragment 2 (S2) tail in a conformation known as the interacting heads motif (IHM). One of the two heads in the dimer has its actin-binding interface buried in the folded structure; this head is referred to as the blocked head, while the other is called the free head, since its actin-binding interface is not hidden structurally. Many myosin types have the folded back IHM structure. The IHM structure correlates to an ultra-low basal ATPase rate in the absence of an action called the 'super relaxed state'. Heads lacking the S2 tail mostly have a faster basal ATPase rate referred to as the 'disordered relaxed state'. Especially, mutations in the myosin lever arm or the pliant region of the lever arm can affect myosin function either by altering its intrinsic motor activity, and/or reducing its ability to form the autoinhibited state.

Autoinhibitory domains (AIDs)

Target domain

97-791 (Myosin head, motor domain)

Relief mechanism

Partner binding

Assay

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q9Y2K3

Entry ID Method Resolution Chain Position Source
AF-Q9Y2K3-F1 Predicted AlphaFoldDB

2235 variants for Q9Y2K3

Variant ID(s) Position Change Description Diseaes Association Provenance
COSM258946
rs763213333
1 M>? Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs1268774454 2 D>A No gnomAD
rs1268774454 2 D>G No gnomAD
rs779875755 2 D>Y No ExAC
TOPMed
gnomAD
rs375887587 4 S>L No ESP
ExAC
TOPMed
gnomAD
rs745482063 5 D>G No ExAC
gnomAD
rs1328037293 6 L>V No TOPMed
gnomAD
rs1265772667 7 G>R No TOPMed
gnomAD
rs200229973 8 E>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 8 E>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs547047848 10 A>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs547047848 10 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs372618528 11 A>G No ESP
ExAC
TOPMed
gnomAD
rs2107253060 11 A>S No Ensembl
rs372618528 11 A>V No ESP
ExAC
TOPMed
gnomAD
TCGA novel 13 L>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM1417634 13 L>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1417633
rs752868848
14 R>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs752868848 14 R>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1369477159 18 A>V No TOPMed
gnomAD
rs765552964 23 L>R No ExAC
TOPMed
gnomAD
rs201499449 24 Q>* No ExAC
TOPMed
gnomAD
rs201499449 24 Q>E No ExAC
TOPMed
gnomAD
rs1266423157 27 A>S No TOPMed
gnomAD
rs2083513330
TCGA novel
28 L>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1212210978 29 D>G No Ensembl
COSM727396
rs372618528
31 K>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767676639 32 K>R No ExAC
gnomAD
rs763034162 34 C>S No ExAC
gnomAD
rs554464644 35 W>C No 1000Genomes
ExAC
gnomAD
rs776364938 37 P>S No ExAC
gnomAD
rs1227527331 38 D>Y No gnomAD
TCGA novel 39 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs746631219 39 G>S No ExAC
gnomAD
rs1373537363 41 N>K No Ensembl
rs2083471487 41 N>S No TOPMed
rs2083471487 41 N>T No TOPMed
rs771555483 42 A>S No ExAC
TOPMed
gnomAD
rs771555483 42 A>T No ExAC
TOPMed
gnomAD
rs201795160 42 A>V No ExAC
gnomAD
rs779220108 43 Y>C No ExAC
rs2083471360 43 Y>D No Ensembl
rs749567907 44 I>T No ExAC
gnomAD
rs1397838449 44 I>V No gnomAD
rs963614768 45 E>K No gnomAD
rs756446624 46 A>V No ExAC
gnomAD
rs2083471159 47 E>D No TOPMed
gnomAD
rs1277790387 47 E>G No gnomAD
rs1436986544 47 E>Q No gnomAD
rs533310183 47 E>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1475560357 49 K>* No gnomAD
rs1184896197 49 K>N No gnomAD
rs1367506163 49 K>R No gnomAD
TCGA novel 50 G>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs2083471058 50 G>R No TOPMed
rs2083471015 51 S>N No Ensembl
rs757410583 53 D>G No ExAC
TOPMed
gnomAD
rs1553773459 54 D>N No Ensembl
COSM3584996
rs765150954
55 G>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2083470824 55 G>A No TOPMed
rs2083470824 55 G>E No TOPMed
rs759403724 56 T>A No ExAC
TOPMed
gnomAD
rs2083470711 57 V>A No Ensembl
rs766172799 58 I>T No ExAC
gnomAD
rs1207699249 60 E>Q No TOPMed
gnomAD
rs1576274142 61 T>A No Ensembl
rs760375675 62 A>T No ExAC
gnomAD
rs2107244916
COSM3845758
65 E>K breast [Cosmic] No cosmic curated
Ensembl
rs1436986544
COSM4846024
67 L>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
gnomAD
rs768192824 67 L>P No ExAC
TOPMed
gnomAD
rs1380179641 67 L>V No TOPMed
COSM727399 68 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1413483447 69 I>L No TOPMed
gnomAD
rs2083441137 69 I>M No gnomAD
rs1159084370 69 I>T No TOPMed
gnomAD
rs1413483447 69 I>V No TOPMed
gnomAD
rs750652915 70 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
TCGA novel 72 D>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1390010884 72 D>V No gnomAD
rs1244827853 73 K>E No gnomAD
rs1200690630 75 Q>H No gnomAD
rs762283092 77 M>K No Ensembl
rs770289708 77 M>L No ExAC
gnomAD
rs770289708 77 M>V No ExAC
gnomAD
rs2083440952 78 N>H No TOPMed
rs1324781823 80 P>A No TOPMed
rs1207012043 82 F>C No gnomAD
rs1207012043 82 F>S No gnomAD
rs1448671335 83 E>G No Ensembl
rs1331326244 83 E>Q No TOPMed
gnomAD
rs1219219123 84 M>T No gnomAD
rs987157021 85 I>T No TOPMed
rs777019977 87 D>N No ExAC
gnomAD
rs967028556 88 M>T No Ensembl
rs754882550 89 A>S No TOPMed
gnomAD
rs754882550 89 A>T No TOPMed
gnomAD
rs1020830997 89 A>V No TOPMed
gnomAD
COSM1036067 91 L>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs776063061
COSM4896804
92 T>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2083440527 92 T>S No Ensembl
TCGA novel 93 H>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2083440503 93 H>Y No Ensembl
rs528646816 95 N>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs528646816 95 N>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs528646816 95 N>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1413875702 97 A>S No gnomAD
rs1413875702 97 A>T No gnomAD
rs758497842 98 S>C No ExAC
gnomAD
rs200749942 99 V>M No ESP
ExAC
TOPMed
gnomAD
rs201256099 100 L>M No 1000Genomes
ExAC
gnomAD
rs750178279 101 H>N No ExAC
gnomAD
rs2083440199 101 H>P No TOPMed
rs367847435 102 T>I No ESP
ExAC
gnomAD
rs367847435 102 T>N No ESP
ExAC
gnomAD
rs1331326244 103 L>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs751212371 103 L>V No ExAC
TOPMed
gnomAD
TCGA novel 104 K>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs762460620 105 R>Q No ExAC
TOPMed
gnomAD
rs755793931 105 R>W No ExAC
TOPMed
gnomAD
rs1343488441
COSM4850103
106 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs765794873 108 G>S No ExAC
TOPMed
gnomAD
rs1437607819 108 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs2083440017 109 Q>R No TOPMed
rs2083439963 111 M>I No TOPMed
rs139026854 112 I>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs777181444 113 Y>C No ExAC
gnomAD
rs777181444 113 Y>F No ExAC
gnomAD
rs1366873692 113 Y>H No gnomAD
rs1168730539 116 S>A No TOPMed
gnomAD
rs777269595 117 G>D No ExAC
gnomAD
COSM3584995 118 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1430095884 120 C>G No TOPMed
gnomAD
rs761040479 120 C>Y No ExAC
TOPMed
gnomAD
rs773327072 121 V>M No 1000Genomes
ExAC
rs761909691 124 N>H No ExAC
TOPMed
gnomAD
rs774463469 125 P>A No ExAC
gnomAD
rs768709718 125 P>L No ExAC
gnomAD
rs774463469 125 P>T No ExAC
gnomAD
rs2083425746 126 Y>* No Ensembl
rs2083425765 126 Y>C No TOPMed
rs1281379382 126 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs749863386 126 Y>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2083425793 126 Y>H No TOPMed
rs1265168755 127 K>R No gnomAD
rs745873630 128 W>* No ExAC
gnomAD
rs745873630 128 W>C No ExAC
gnomAD
COSM3914484 130 P>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1319548603 130 P>A No gnomAD
rs1319548603 130 P>S No gnomAD
rs770648126 131 V>M No ExAC
TOPMed
gnomAD
TCGA novel 131 V>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1286416318 133 Q>* No gnomAD
rs746772108 135 E>G No ExAC
gnomAD
rs777325938 136 V>I No ExAC
gnomAD
COSM3584994 136 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2107236371 137 M>V No Ensembl
rs758114957 138 A>P No ExAC
gnomAD
rs182324086 139 A>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs182324086 139 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1165863212 140 Y>C No TOPMed
gnomAD
rs2083425445 140 Y>N No Ensembl
rs1456806753 141 K>E No gnomAD
rs1409763026 142 G>A No gnomAD
rs754408180 143 K>* No ExAC
TOPMed
gnomAD
rs760976748 144 R>S No ExAC
TOPMed
gnomAD
rs750839847 145 R>* No ExAC
TOPMed
gnomAD
TCGA novel 146 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs917834045 146 S>L No TOPMed
rs1254520657 147 E>A No gnomAD
rs1213888673 148 A>T No gnomAD
rs190819544 148 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs565193489 149 P>S No 1000Genomes
ExAC
gnomAD
rs1486679929 150 P>A No TOPMed
rs768729797 150 P>R No ExAC
gnomAD
rs1486679929 150 P>S No TOPMed
rs1317408466 151 H>P No TOPMed
gnomAD
rs762965361 151 H>Q No ExAC
gnomAD
rs1317408466 151 H>R No TOPMed
gnomAD
rs2083424963 151 H>Y No Ensembl
rs1205321702 152 I>T No TOPMed
gnomAD
rs776574998 152 I>V No ExAC
gnomAD
rs1463337088 156 A>D No TOPMed
gnomAD
rs2083424809 156 A>P No TOPMed
rs1463337088 156 A>V No TOPMed
gnomAD
rs201879926 157 N>S No ESP
TOPMed
gnomAD
rs777677674 159 A>G No ExAC
gnomAD
rs1165863212 160 F>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1003278469 161 Q>* No TOPMed
gnomAD
rs1003278469 161 Q>E No TOPMed
gnomAD
rs376723541 161 Q>H No ESP
ExAC
TOPMed
gnomAD
rs866505881 161 Q>R No Ensembl
COSM4899668 162 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs904975916 162 D>G No gnomAD
rs1560432598
COSM3584992
162 D>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs1365579579 163 M>K No TOPMed
COSM6095824 163 M>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1365579579 163 M>R No TOPMed
rs1365579579 163 M>T No TOPMed
rs1377538303 163 M>V No TOPMed
gnomAD
rs767751424
COSM3584991
165 H>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1174518267 166 N>D No TOPMed
gnomAD
rs779673886 167 R>Q No ExAC
TOPMed
gnomAD
rs1216764436 170 Q>H No Ensembl
rs755576266 170 Q>K No ExAC
TOPMed
gnomAD
TCGA novel 170 Q>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 171 S>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1253334242 171 S>T No TOPMed
gnomAD
rs746391808 172 I>V No ExAC
gnomAD
rs781496642 173 L>H No ExAC
TOPMed
gnomAD
rs781496642 173 L>P No ExAC
TOPMed
gnomAD
rs781496642 173 L>R No ExAC
TOPMed
gnomAD
rs202126707 175 T>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1162545774 177 E>D No TOPMed
gnomAD
rs1576270517 177 E>G No Ensembl
rs2083408342 177 E>Q No TOPMed
rs2083408251 179 G>D No TOPMed
COSM3695737
rs200291167
179 G>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2083408251 179 G>V No TOPMed
rs2083408230 180 A>T No Ensembl
rs554365103 181 G>A No 1000Genomes
ExAC
gnomAD
rs2083408156 182 K>E No TOPMed
rs757788759 182 K>N No ExAC
gnomAD
rs1182942294 182 K>R No TOPMed
gnomAD
rs747461461 183 T>N No ExAC
TOPMed
gnomAD
rs747461461 183 T>S No ExAC
TOPMed
gnomAD
rs1308704175 184 V>A No TOPMed
rs1408203040 186 S>G No TOPMed
rs758761125 186 S>R No ExAC
gnomAD
rs748925913
COSM1308363
187 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM5423421 187 K>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs545571474 188 H>P No TOPMed
gnomAD
rs545571474 188 H>R No TOPMed
gnomAD
rs755127410 189 I>F No ExAC
TOPMed
gnomAD
rs753897625 190 I>V No ExAC
gnomAD
rs1230048689 191 Q>* No TOPMed
gnomAD
rs2107232948 191 Q>R No Ensembl
rs1576270462 192 Y>F No Ensembl
rs374454873 192 Y>H No ESP
TOPMed
gnomAD
rs2083407562 193 F>I No Ensembl
rs1267567924 194 A>D No TOPMed
gnomAD
rs766518957 196 I>K No ExAC
gnomAD
rs766518957 196 I>T No ExAC
gnomAD
rs1353429791 196 I>V No TOPMed
gnomAD
rs2083407382 197 A>G No Ensembl
rs963971875 197 A>T No TOPMed
gnomAD
rs1233013473 198 A>T No gnomAD
rs751475198 199 M>T No ExAC
rs761855234 199 M>V No ExAC
TOPMed
gnomAD
rs1323487444 200 I>S No TOPMed
gnomAD
rs1323487444 200 I>T No TOPMed
gnomAD
rs2083407006 201 E>K No Ensembl
rs923453724 203 R>T No Ensembl
rs764045947 205 K>T No ExAC
TOPMed
gnomAD
rs201549171 206 Q>* No ESP
ExAC
TOPMed
gnomAD
rs2107232820 206 Q>P No Ensembl
rs751604307 208 A>S No ExAC
TOPMed
gnomAD
rs751604307 208 A>T No ExAC
TOPMed
gnomAD
rs374854107 208 A>V No ESP
ExAC
TOPMed
gnomAD
rs2107229090 210 E>D No Ensembl
COSM3974066
rs1468974093
210 E>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs765030360 211 D>N No ExAC
TOPMed
gnomAD
rs558881421 212 Q>P No 1000Genomes
ExAC
gnomAD
rs2083385666 214 M>V No TOPMed
rs1034067952 215 Q>* No gnomAD
COSM2916945 215 Q>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1034067952 215 Q>E No gnomAD
rs776196034 215 Q>L No ExAC
gnomAD
rs773751137 218 T>A No ExAC
TOPMed
gnomAD
rs1271852010 219 I>T No gnomAD
rs772489004 220 L>W No ExAC
TOPMed
gnomAD
rs2083385390 221 E>* No Ensembl
COSM3914483 222 A>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1435136450 223 F>L No gnomAD
rs779160426 223 F>L No ExAC
TOPMed
gnomAD
rs768998401 223 F>S No ExAC
TOPMed
gnomAD
rs2083385265 224 G>R No TOPMed
rs1369645677 225 N>S No TOPMed
gnomAD
rs1025290016 226 A>T No Ensembl
rs545411477 227 K>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs780409842 231 N>D No ExAC
TOPMed
gnomAD
rs186710312 232 D>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs745909802 233 N>S No ExAC
TOPMed
gnomAD
rs1019950988 235 S>P No Ensembl
rs374667460 236 R>C No ESP
ExAC
TOPMed
gnomAD
rs374667460 236 R>G No ESP
ExAC
TOPMed
gnomAD
rs201981854 236 R>H No 1000Genomes
ESP
TOPMed
gnomAD
rs374667460 236 R>S No ESP
ExAC
TOPMed
gnomAD
rs770490422 236 R>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2090697640 239 K>T No Ensembl
COSM1417631 239 K>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2083366604 240 F>I No TOPMed
rs2083366570 241 I>L No TOPMed
rs770170822 241 I>S No ExAC
gnomAD
rs770170822 241 I>T No ExAC
gnomAD
rs1466767125 242 R>G No TOPMed
gnomAD
rs1321910681 243 M>L No gnomAD
rs746036501 243 M>T No ExAC
TOPMed
gnomAD
rs1233864195 244 H>Y No TOPMed
gnomAD
rs372476083 247 A>T No Ensembl
rs1225267690 249 G>D No TOPMed
gnomAD
rs2083366180 249 G>S No TOPMed
TCGA novel 250 M>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1424556338 252 S>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs748097818 252 S>L No ExAC
TOPMed
gnomAD
rs2107600013 253 S>F No Ensembl
rs1438960893 253 S>P No gnomAD
rs781378758
COSM3914482
254 V>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs754811850 254 V>L No ExAC
TCGA novel 254 V>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs199543416 256 I>T No ExAC
TOPMed
gnomAD
rs766115701 257 D>Y No ExAC
gnomAD
rs755777461 258 I>T No ExAC
gnomAD
rs750011997 259 Y>H No ExAC
TOPMed
gnomAD
rs2083359582 259 Y>S No gnomAD
rs777677211 260 L>F No ExAC
gnomAD
rs1375006787 262 E>K No TOPMed
rs779830624 263 K>N No ExAC
TOPMed
gnomAD
rs1394841983 264 S>F No TOPMed
rs2083359293 265 R>G No TOPMed
rs750102040 265 R>K No ExAC
gnomAD
rs374694357 266 V>M No ESP
ExAC
TOPMed
gnomAD
rs756757735 267 I>F No ExAC
TOPMed
gnomAD
rs751110103 268 F>L No ExAC
gnomAD
rs1053126426 269 Q>* No Ensembl
rs374250280 269 Q>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs1391852990 270 Q>H No TOPMed
gnomAD
rs763565180 271 A>T No ExAC
gnomAD
rs765759935 272 G>A No ExAC
gnomAD
rs765759935 272 G>E No ExAC
gnomAD
rs2083358827 272 G>R No TOPMed
rs1355367769 273 E>G No gnomAD
rs1417012167 276 Y>N No gnomAD
COSM283022 278 I>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs751145789 278 I>L No ExAC
TOPMed
gnomAD
rs1039673975 278 I>M No TOPMed
gnomAD
rs751145789 278 I>V No ExAC
TOPMed
gnomAD
COSM1036066 281 Q>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2083358401 283 L>P No gnomAD
rs760762410 284 S>C No ExAC
gnomAD
rs760762410 284 S>Y No ExAC
gnomAD
rs773358183 285 G>* No ExAC
gnomAD
rs749291407 286 Q>H No ExAC
gnomAD
rs772074722 286 Q>P No ExAC
TOPMed
gnomAD
rs779955020 288 E>G No ExAC
TOPMed
gnomAD
rs769624537 289 L>V No ExAC
gnomAD
rs2083357993 290 H>Q No TOPMed
gnomAD
rs1212739368 290 H>R No TOPMed
gnomAD
rs2083307546 291 D>E No TOPMed
rs2107596418 292 L>M No Ensembl
rs2083307490 294 L>P No gnomAD
rs775445184 295 V>G No ExAC
gnomAD
rs2083307432 296 S>F No TOPMed
rs577166845 298 N>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs577166845 298 N>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs1226269302 299 P>A No gnomAD
rs1279629198 299 P>L No TOPMed
rs1308920038 301 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
COSM262217 303 H>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs895810750 303 H>L No TOPMed
gnomAD
rs895810750 303 H>R No TOPMed
gnomAD
rs1463001431 308 G>R No gnomAD
rs1157857057 309 A>G No gnomAD
TCGA novel 309 A>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1417630 312 V>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1179544977 312 V>M No TOPMed
gnomAD
rs367787967 313 E>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs367787967 313 E>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2083306924 313 E>V No gnomAD
COSM71740 315 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs974707812 316 D>E No TOPMed
rs1365097106 316 D>V No TOPMed
gnomAD
rs1576263906 316 D>Y No Ensembl
rs746741042 317 D>G No ExAC
TOPMed
gnomAD
rs777551238 321 L>F No ExAC
TOPMed
gnomAD
rs758028047 322 L>V No ExAC
TOPMed
gnomAD
rs1261648781 324 T>A No gnomAD
rs2107595794 326 Q>E No Ensembl
rs2107595792 327 A>T No Ensembl
rs2083295919 328 M>I No TOPMed
rs764021597 328 M>V No ExAC
gnomAD
rs2083295886 329 D>H No Ensembl
rs373644630 334 L>F No ESP
TOPMed
gnomAD
rs373644630 334 L>V No ESP
TOPMed
gnomAD
rs2107595775 336 D>E No 1000Genomes
rs754576197 336 D>Y No TOPMed
gnomAD
rs2083295704 337 E>* No Ensembl
rs563417689 338 K>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs2083295667 338 K>R No TOPMed
rs746754535 339 Y>* No ExAC
TOPMed
gnomAD
rs2083295543 339 Y>C No gnomAD
rs1415227906 339 Y>D No gnomAD
rs2083295543 339 Y>F No gnomAD
rs1415227906 339 Y>H No gnomAD
COSM1036065 339 Y>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1393961108 340 G>E No TOPMed
rs2107595758 341 C>* No Ensembl
rs543542368 341 C>Y No 1000Genomes
ExAC
TOPMed
gnomAD
rs771877706 342 Y>C No ExAC
TOPMed
gnomAD
rs1476399406 342 Y>H No gnomAD
rs771877706 342 Y>S No ExAC
TOPMed
gnomAD
COSM2916928 343 K>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1036064
rs1560417803
347 A>V Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1484906522 348 I>F No gnomAD
rs1484906522 348 I>V No gnomAD
rs2083295105 349 M>I No TOPMed
rs2083295134 349 M>K No TOPMed
COSM1417628 349 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2083295073 350 H>R No Ensembl
rs2083295040 351 F>L No Ensembl
rs2083295024 352 G>R No Ensembl
rs2083295000 353 N>D No Ensembl
rs530028325 354 M>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs754442718 358 Q>K No ExAC
gnomAD
rs1483804192 358 Q>P No gnomAD
rs1271785084 359 K>N No TOPMed
gnomAD
rs1212303219 360 P>A No TOPMed
gnomAD
rs200238777 360 P>H No ESP
ExAC
TOPMed
gnomAD
rs1325089156 361 R>T No Ensembl
rs1195558394 362 E>K No gnomAD
rs750739017 363 E>* No Ensembl
rs143858387 363 E>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs1232582582 364 Q>K No gnomAD
rs2083294571 366 E>Q No Ensembl
rs756543125 367 A>V No ExAC
TOPMed
gnomAD
rs750816941 368 D>E No ExAC
gnomAD
rs764247983 369 G>C No TOPMed
gnomAD
rs764247983 369 G>S No TOPMed
gnomAD
rs2107595687 370 T>I No Ensembl
rs767821296 370 T>P No ExAC
gnomAD
rs746314486 372 N>I No ExAC
TOPMed
gnomAD
rs746314486 372 N>S No ExAC
TOPMed
gnomAD
rs374773217 373 A>S No ESP
ExAC
TOPMed
gnomAD
rs950714565 374 D>G No TOPMed
gnomAD
rs867439451 375 K>R No TOPMed
gnomAD
rs867439451 375 K>T No TOPMed
gnomAD
rs2083222630 376 A>D No TOPMed
COSM4940844 376 A>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2083222630 376 A>V No TOPMed
rs1270875839 378 F>L No TOPMed
gnomAD
COSM4943000 378 F>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2083222539 378 F>S No Ensembl
rs757610613 379 L>F No ExAC
TOPMed
gnomAD
rs2083222459 379 L>H No gnomAD
rs2083222391 380 M>I No Ensembl
rs777834304 380 M>T No ExAC
gnomAD
rs778269071 380 M>V No ExAC
TOPMed
gnomAD
rs758542722 381 G>A No ExAC
TOPMed
gnomAD
rs758542722 381 G>D No ExAC
TOPMed
gnomAD
COSM3845757 381 G>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1189493879 382 I>N No TOPMed
gnomAD
rs1466697667 382 I>V No gnomAD
rs752745056 383 N>S No ExAC
gnomAD
rs1474913116 384 S>P No TOPMed
rs2083221966 385 S>C No Ensembl
rs901641175 386 E>G No Ensembl
rs901641175 386 E>V No Ensembl
rs2083221775 388 V>A No TOPMed
COSM419465 391 L>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs750385192 393 H>R No ExAC
gnomAD
rs867027541 393 H>Y No Ensembl
rs767478721 394 P>T No ExAC
gnomAD
rs761679187 397 K>E No ExAC
gnomAD
rs201158244 398 V>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs1380535875 398 V>F No 1000Genomes
gnomAD
rs1380535875 398 V>I No 1000Genomes
gnomAD
rs768226020 399 G>R No ExAC
TOPMed
gnomAD
rs762615979 400 N>D No ExAC
TOPMed
gnomAD
rs769226804 401 E>D No ExAC
TOPMed
gnomAD
rs267599529 401 E>K No TOPMed
gnomAD
rs1249756980 401 E>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs746439397 404 T>N No ExAC
TOPMed
gnomAD
rs1355612761 406 G>C No TOPMed
rs771330367 407 Q>* No ExAC
gnomAD
rs370092066 407 Q>R No ESP
ExAC
TOPMed
gnomAD
rs2083220784 409 I>M No gnomAD
rs1314064997 409 I>R No TOPMed
gnomAD
rs2083220844 409 I>V No TOPMed
rs1019657113 410 E>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs778156814 411 Q>* No ExAC
rs1291067970 411 Q>H No TOPMed
rs747495477 413 T>I No ExAC
TOPMed
gnomAD
rs747495477 413 T>N No ExAC
TOPMed
gnomAD
rs1219756091 414 C>R No gnomAD
rs773455934 415 A>S No ExAC
gnomAD
rs563821846 416 V>F No 1000Genomes
ExAC
gnomAD
rs563821846 416 V>I No 1000Genomes
ExAC
gnomAD
rs1302996122 417 G>D No TOPMed
gnomAD
rs781328238 417 G>R No gnomAD
rs779256964 418 A>G No ExAC
TOPMed
gnomAD
rs779256964 418 A>V No ExAC
TOPMed
gnomAD
rs2083167731 419 L>V No TOPMed
rs1397475191 420 S>A No TOPMed
gnomAD
rs1172787673 420 S>F No gnomAD
rs1397475191 420 S>T No TOPMed
gnomAD
rs1416969740 423 M>I No gnomAD
rs930250533 423 M>T No TOPMed
gnomAD
rs1185159336 424 Y>H No gnomAD
rs755149252 425 E>* No ExAC
gnomAD
rs976900741 425 E>A No TOPMed
gnomAD
rs2107587207 425 E>D No Ensembl
rs755149252 425 E>K No ExAC
gnomAD
rs142178990 427 M>I No 1000Genomes
ExAC
TOPMed
gnomAD
COSM6162792 427 M>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs749413131 427 M>T No ExAC
TOPMed
gnomAD
COSM3974065 428 F>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2083167380 428 F>L No TOPMed
gnomAD
rs1199899116 428 F>S No gnomAD
rs1199899116 428 F>Y No gnomAD
rs757272054 429 K>N No ExAC
TOPMed
gnomAD
rs1247445652 430 W>* No gnomAD
rs1313052992 433 A>T No gnomAD
rs566515743 433 A>V No TOPMed
gnomAD
rs763862200 434 R>G No ExAC
TOPMed
gnomAD
VAR_030235
rs4299484
434 R>Q No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs763862200 434 R>W No ExAC
TOPMed
gnomAD
rs1465638015 435 I>M No TOPMed
gnomAD
COSM1036063 435 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2083166893 436 N>S No TOPMed
rs781328238 437 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1304139756 437 R>W No TOPMed
gnomAD
rs956018224 438 A>D No TOPMed
gnomAD
rs1393649090 438 A>T No gnomAD
rs2107587151 441 A>D No Ensembl
TCGA novel 442 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs752338176 442 K>R No ExAC
TOPMed
gnomAD
rs1459271805 443 L>M No TOPMed
gnomAD
rs2083166638 443 L>R No TOPMed
rs1459271805 443 L>V No TOPMed
gnomAD
rs764834314 444 S>L No ExAC
gnomAD
rs1174248124 446 Q>H No TOPMed
gnomAD
rs2083166510 446 Q>K No Ensembl
rs776138024 446 Q>P No ExAC
gnomAD
TCGA novel 446 Q>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 447 F>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs199535299 449 I>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2083166420 449 I>V No TOPMed
rs1351058349 450 G>C No TOPMed
COSM3408098 451 I>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs761155417 451 I>V No ExAC
TOPMed
gnomAD
rs202140390 453 D>N No ExAC
TOPMed
gnomAD
rs1271858882 454 I>N No gnomAD
rs977736264 455 T>P No TOPMed
gnomAD
rs772374911 456 G>S No ExAC
gnomAD
rs1208029402 458 E>K No TOPMed
gnomAD
COSM445266
rs956018224
458 E>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs200023296 459 I>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1287746933 462 Y>C No TOPMed
gnomAD
rs753486570 462 Y>N No ExAC
gnomAD
rs1287746933 462 Y>S No TOPMed
gnomAD
rs1274147157 463 N>D No TOPMed
gnomAD
rs765935868 464 S>N No ExAC
TOPMed
gnomAD
rs760214534 464 S>R No ExAC
TOPMed
gnomAD
rs1272567948 465 L>F No gnomAD
TCGA novel 465 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs750934547 466 E>* No ExAC
TOPMed
gnomAD
rs762179606 467 Q>* No ExAC
TOPMed
gnomAD
rs762179606 467 Q>K No ExAC
TOPMed
gnomAD
rs769074721 468 L>F No ExAC
TOPMed
gnomAD
rs769074721 468 L>V No ExAC
TOPMed
gnomAD
rs183838764 469 C>* No 1000Genomes
ExAC
gnomAD
rs2083160177 469 C>R No TOPMed
rs189002397 469 C>Y No 1000Genomes
ExAC
gnomAD
rs1012927501 470 I>F No TOPMed
gnomAD
rs2083160055 470 I>N No gnomAD
rs1012927501 470 I>V No TOPMed
gnomAD
rs1434339473 473 T>A No gnomAD
rs769813232 474 N>I No ExAC
TOPMed
gnomAD
rs769813232 474 N>S No ExAC
TOPMed
gnomAD
COSM1036062 475 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 480 F>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1221535615 480 F>S No TOPMed
gnomAD
rs200523411 482 N>S No 1000Genomes
ExAC
gnomAD
rs754756905 483 W>* No ExAC
TOPMed
gnomAD
rs754756905 483 W>C No ExAC
TOPMed
gnomAD
rs2107586725 483 W>R No Ensembl
rs9868484
VAR_030236
484 H>Y No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs374184872 485 M>I No ESP
ExAC
TOPMed
gnomAD
rs779729382 485 M>L No ExAC
gnomAD
COSM460960
rs750934547
486 F>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
TOPMed
gnomAD
rs749972581 487 V>A No ExAC
gnomAD
rs2083159438 487 V>I No Ensembl
rs370509544 492 E>* No ESP
ExAC
TOPMed
gnomAD
rs2083159312 492 E>D No gnomAD
rs762388881 493 Y>* No ExAC
gnomAD
rs1345055012 493 Y>C No gnomAD
rs752106756 494 K>E No ExAC
gnomAD
rs2083159179 494 K>N No TOPMed
rs2083159131 496 E>A No Ensembl
rs2083159031 497 S>G No Ensembl
rs763387205 497 S>N No ExAC
TOPMed
gnomAD
rs1357652980 498 I>S No gnomAD
rs1357652980 498 I>T No gnomAD
rs1156434689 498 I>V No TOPMed
gnomAD
TCGA novel 499 E>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs934882375 499 E>K No TOPMed
gnomAD
rs934882375 499 E>Q No TOPMed
gnomAD
rs775890404 500 W>R No ExAC
gnomAD
rs1163895980 501 V>A No gnomAD
rs373089482 502 S>F No ESP
ExAC
gnomAD
rs2083158496 502 S>P No Ensembl
rs564969651 503 I>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs564969651 503 I>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs2083158370 504 G>V No gnomAD
rs1471976264 506 G>D No gnomAD
rs1187695866 506 G>S No gnomAD
rs2083158240 507 L>P No TOPMed
rs1560401063 508 D>G No Ensembl
rs76832287 509 L>F No ExAC
gnomAD
rs753497088 510 Q>R No Ensembl
rs1211735056 511 A>V No gnomAD
rs1442540969 512 C>F No gnomAD
COSM4892747
rs370509544
512 C>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1256866403 514 D>G No gnomAD
TCGA novel 516 I>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 516 I>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2083157949 516 I>V No Ensembl
rs768484232 518 K>E No ExAC
TOPMed
gnomAD
rs1278693369 518 K>R No gnomAD
rs1441059259 519 P>S No TOPMed
gnomAD
rs1348060424 520 M>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
COSM6095827 520 M>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs780684537 520 M>V No ExAC
TOPMed
gnomAD
rs2083101373 521 G>D No Ensembl
rs2083101319 522 I>V No TOPMed
TCGA novel 522 I>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs746544618 525 I>V No ExAC
TOPMed
gnomAD
rs1487813987 526 L>F No gnomAD
rs1284174391 527 E>K No gnomAD
rs528506562 528 E>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs765693363 529 E>* No ExAC
TOPMed
gnomAD
rs765693363 529 E>K No ExAC
TOPMed
gnomAD
rs1217490781 529 E>V No gnomAD
rs1312566927 530 C>R No gnomAD
rs1294590651 531 M>I No TOPMed
gnomAD
rs369870197 531 M>T No ESP
ExAC
TOPMed
gnomAD
rs2083100946 531 M>V No TOPMed
rs1176944388 532 F>C No TOPMed
rs2083100828 533 P>S No Ensembl
rs754133409 534 K>T No ExAC
TOPMed
gnomAD
rs2083100764 535 A>T No gnomAD
rs766623729 536 T>A No ExAC
gnomAD
rs1464575940 537 D>E No TOPMed
gnomAD
rs2083100692 537 D>H No Ensembl
rs760837884 538 L>M No ExAC
gnomAD
rs773294770 538 L>P No ExAC
TOPMed
gnomAD
rs773294770 538 L>Q No ExAC
TOPMed
gnomAD
COSM200948
rs2107583462
540 F>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA Cosmic
rs767520849 541 K>R No ExAC
gnomAD
rs2083100533 543 K>* No Ensembl
COSM3584986 544 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs192522176 544 L>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs192522176 544 L>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2083100467 545 F>L No Ensembl
rs2083100441 545 F>S No Ensembl
rs377215115 547 N>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs769677172 548 H>P No ExAC
TOPMed
gnomAD
rs2083100332 549 F>C No Ensembl
rs770913205 550 G>A No ExAC
gnomAD
rs577325025 551 K>N No 1000Genomes
ExAC
gnomAD
rs1487867790 551 K>T No gnomAD
rs78421779
RCV000911276
552 S>L No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs777423353 553 V>I No ExAC
gnomAD
rs1313975769 555 L>P No gnomAD
rs748740422 559 K>E No ExAC
gnomAD
rs779260669 560 P>T No ExAC
gnomAD
rs755474705 561 D>N No ExAC
gnomAD
rs1280479719 562 K>E No TOPMed
gnomAD
rs2083099574 563 K>E No Ensembl
rs187501694 565 F>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs187501694 565 F>Y No 1000Genomes
ExAC
TOPMed
gnomAD
rs1464120486 567 A>V No gnomAD
rs1360366482 568 H>L No TOPMed
gnomAD
rs1207927099 570 E>A No TOPMed
rs1177114948 571 L>F No gnomAD
rs1477451563 571 L>P No 1000Genomes
gnomAD
rs1477451563 571 L>R No 1000Genomes
gnomAD
rs750641020 572 V>F No ExAC
gnomAD
rs761774880 573 H>P No ExAC
TOPMed
gnomAD
rs761774880 573 H>R No ExAC
TOPMed
gnomAD
rs1303236433 574 Y>C No TOPMed
gnomAD
rs752718954 574 Y>N No ExAC
gnomAD
rs757975090 574 Y>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs942728799 576 G>A No TOPMed
rs759465045 577 V>M No ExAC
gnomAD
rs773105172 578 V>A No ExAC
gnomAD
rs760517838 578 V>L No ExAC
gnomAD
rs1391896335 579 P>L No TOPMed
gnomAD
TCGA novel 579 P>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs771649700 579 P>S No ExAC
gnomAD
rs1000618392 580 Y>C No gnomAD
TCGA novel 581 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2083085896 582 I>T No Ensembl
rs2083085872 584 G>D No Ensembl
rs1161260425 585 W>* No gnomAD
COSM1216191 585 W>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 586 L>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs202235922 588 K>T No TOPMed
gnomAD
rs1459192448 589 N>K No gnomAD
rs761475222 590 K>E No ExAC
gnomAD
rs773739662 591 D>G No ExAC
TOPMed
gnomAD
rs2083085711 591 D>N No Ensembl
rs768209260 592 L>F No ExAC
TOPMed
gnomAD
rs1318905301 593 L>F No TOPMed
gnomAD
rs202208116 593 L>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs749820395 594 N>D No ExAC
gnomAD
rs749820395 594 N>H No ExAC
gnomAD
TCGA novel 595 E>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM4112068
rs2083098745
595 E>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
COSM3584984 597 V>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs780519629 597 V>M No ExAC
gnomAD
rs770181748 599 A>T No ExAC
TOPMed
gnomAD
rs1265813043 600 V>I No gnomAD
rs1428770120 602 Q>R No TOPMed
gnomAD
rs2083085925
COSM6162793
602 Q>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1212007385 603 K>* No gnomAD
COSM3584982 604 S>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1285249699 605 S>P No TOPMed
rs1223168429 606 N>K No TOPMed
gnomAD
rs2083085288 607 R>G No Ensembl
rs144190634 608 L>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs2083085201 609 L>P No TOPMed
gnomAD
rs28565077 610 A>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs28565077 610 A>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2107582388 610 A>T No Ensembl
rs28565077 610 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1239071729 611 S>N No TOPMed
gnomAD
rs369600445 611 S>R No ESP
ExAC
TOPMed
gnomAD
rs768209260
COSM727405
612 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1321461145 613 F>L No TOPMed
gnomAD
COSM4900958 615 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2083084951 615 N>T No TOPMed
rs1365935762 616 Y>C No TOPMed
gnomAD
rs1418094358 619 T>A No gnomAD
rs1382309756 619 T>I No gnomAD
rs1159232108 620 D>G No gnomAD
rs1477700442 621 S>G No gnomAD
rs766452446 621 S>R No ExAC
TOPMed
gnomAD
TCGA novel 622 A>C Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1200279183 622 A>G No TOPMed
gnomAD
rs1361848680 623 I>M No Ensembl
COSM3584980 623 I>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2083061098 623 I>T No Ensembl
rs779079183 623 I>V No ExAC
gnomAD
rs750385253 625 F>S No ExAC
TOPMed
gnomAD
rs1342119001 626 G>A No TOPMed
gnomAD
rs748418471 627 E>K No TOPMed
gnomAD
rs767277272 630 R>L No ExAC
TOPMed
gnomAD
rs767277272 630 R>P No ExAC
TOPMed
gnomAD
rs2083060648 633 G>E No TOPMed
rs757055798 633 G>R No ExAC
gnomAD
rs2083060567 634 A>S No TOPMed
rs1330428163 634 A>V No TOPMed
gnomAD
rs751213071 635 S>L No ExAC
TOPMed
gnomAD
rs753869502 637 Q>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs370614771 638 T>K No ESP
ExAC
gnomAD
rs370614771 638 T>M No ESP
ExAC
gnomAD
rs969399607 639 V>A No gnomAD
rs2107580688 639 V>F No Ensembl
TCGA novel 639 V>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2083060141 640 A>T No Ensembl
rs771247217 643 H>R No ExAC
gnomAD
rs761134573 644 K>E No ExAC
TOPMed
gnomAD
rs768236701 645 E>V No Ensembl
rs372985354 646 N>K No ESP
ExAC
TOPMed
gnomAD
rs2083052836 649 K>T No TOPMed
rs1447567943 650 L>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
gnomAD
COSM4112067
rs767277272
650 L>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1225477202 651 M>L No TOPMed
gnomAD
rs1225477202 651 M>V No TOPMed
gnomAD
rs2083052741 652 T>A No gnomAD
rs2083052741 652 T>S No gnomAD
rs528326951 653 N>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs528326951 653 N>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs2083052518 653 N>S No TOPMed
gnomAD
rs770912310 654 L>M No ExAC
TOPMed
gnomAD
rs1304653369 656 S>* No TOPMed
gnomAD
rs1304653369 656 S>L No TOPMed
gnomAD
rs2083052350 657 T>A No TOPMed
gnomAD
rs1466606718 657 T>I No TOPMed
rs1424889834 659 P>R No gnomAD
rs2083052264 660 H>D No TOPMed
gnomAD
rs2083060103
TCGA novel
660 H>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs777607293 661 F>L No ExAC
TOPMed
gnomAD
TCGA novel 661 F>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1395222008 662 V>M No TOPMed
gnomAD
rs1420315098 663 R>K No gnomAD
rs370013713 664 C>R No ESP
TOPMed
rs758176683 664 C>W No ExAC
gnomAD
rs1190533862 665 I>V No gnomAD
rs1021406992 668 N>S No TOPMed
gnomAD
rs778503625 668 N>Y No ExAC
gnomAD
rs547076458 669 V>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs547076458 669 V>G No 1000Genomes
ExAC
TOPMed
gnomAD
TCGA novel 671 K>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1011739529 672 I>L No TOPMed
gnomAD
rs200125882 672 I>M No ESP
ExAC
TOPMed
gnomAD
rs751011526 674 G>D No ExAC
gnomAD
rs2107580205 674 G>S No 1000Genomes
rs751011526 674 G>V No ExAC
gnomAD
COSM3584979 675 I>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs201634509 675 I>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757793113 675 I>M No ExAC
gnomAD
rs201634509 675 I>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs548545110 676 L>Q No 1000Genomes
ExAC
gnomAD
rs2083024811 678 P>L No Ensembl
rs1180225970 678 P>S No gnomAD
rs2107578781 683 Q>L No Ensembl
rs764483316 684 Q>K No ExAC
gnomAD
rs1409620131 684 Q>L No TOPMed
gnomAD
rs1462527519 685 L>M No TOPMed
gnomAD
rs764665272 686 R>G No ExAC
TOPMed
gnomAD
rs776650354 686 R>H No ExAC
TOPMed
gnomAD
TCGA novel 687 C>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3584978
rs560378764
687 C>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2083024395 688 N>D No TOPMed
rs1307720156 688 N>S No TOPMed
gnomAD
rs772012997 689 G>S No ExAC
gnomAD
COSM3845756 693 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 694 T>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs2107578749 694 T>I No Ensembl
rs2107578742 695 R>S No Ensembl
rs1371097497 695 R>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs768324215 696 I>R No ExAC
gnomAD
rs749022371 697 C>G No ExAC
gnomAD
rs993897837 698 R>C No Ensembl
rs779545620 698 R>H No ExAC
TOPMed
gnomAD
rs755755124 700 G>C No ExAC
gnomAD
rs1161882115 700 G>V No gnomAD
rs372960265 704 R>* No ESP
ExAC
TOPMed
gnomAD
rs912664365 704 R>L No TOPMed
gnomAD
rs912664365 704 R>Q No TOPMed
gnomAD
rs764665272 706 Q>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs528517434 707 Y>C No 1000Genomes
ExAC
gnomAD
TCGA novel 709 D>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs911109043 711 K>R No Ensembl
rs2083023255 712 Q>E No TOPMed
rs764573693 712 Q>L No ExAC
TOPMed
gnomAD
rs764573693 712 Q>R No ExAC
TOPMed
gnomAD
rs774251215 715 C>R No ExAC
gnomAD
rs550383018 716 I>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs550383018 716 I>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1292003318 718 N>D No gnomAD
rs762692013
COSM727406
718 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
gnomAD
NCI-TCGA Cosmic
rs1347895796 719 P>A No TOPMed
gnomAD
rs199597424 719 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs745444189 721 T>A No ExAC
TOPMed
gnomAD
rs745444189 721 T>S No ExAC
TOPMed
gnomAD
COSM3914480 722 F>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs912664365
COSM727407
724 K>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs2083014851 725 S>C No TOPMed
rs1346416474 726 K>N No gnomAD
rs747564425 727 F>L No ExAC
gnomAD
rs778111275 727 F>S No ExAC
gnomAD
rs1008484498 729 S>G No TOPMed
rs2083014567 730 S>I No gnomAD
rs1253894885 731 R>S No Ensembl
COSM6162795 732 K>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1451028040 733 A>T No gnomAD
rs1387192147 733 A>V No gnomAD
rs1159719538 734 A>P No gnomAD
rs758897572 735 E>K No ExAC
gnomAD
rs2083014339 736 E>G No TOPMed
rs2083014305 737 L>I No Ensembl
rs953904162 739 G>S No TOPMed
gnomAD
rs2083014207 740 S>A No TOPMed
TCGA novel 740 S>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs889045635 742 E>G No TOPMed
gnomAD
rs2083014157 742 E>K No Ensembl
rs1362111661 743 I>K No TOPMed
gnomAD
rs1362111661 743 I>R No TOPMed
gnomAD
rs1362111661 743 I>T No TOPMed
gnomAD
rs144221103
RCV000963291
745 H>D No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2072297318 746 T>A No TOPMed
rs1560384428 746 T>I No Ensembl
rs754046893 747 Q>H No ExAC
TOPMed
gnomAD
rs2083013907 747 Q>R No Ensembl
rs1390538784 748 Y>C No TOPMed
rs2083013840 748 Y>H No TOPMed
rs760717886 749 R>* No ExAC
TOPMed
gnomAD
rs750480643 749 R>L No ExAC
TOPMed
gnomAD
rs1305724527 750 F>S No TOPMed
gnomAD
rs2083013676 751 G>V No gnomAD
rs966339069 752 I>V No TOPMed
gnomAD
rs2082999779 755 V>A No TOPMed
gnomAD
rs2082999731 756 F>C No TOPMed
gnomAD
rs1244220679 758 K>N No gnomAD
rs1263799971 759 A>V No gnomAD
COSM4478923 760 G>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs752663847 764 Q>* No ExAC
gnomAD
rs983405322 765 L>R No TOPMed
gnomAD
rs759370560 766 E>Q No ExAC
TOPMed
gnomAD
rs199678295 767 A>T No ESP
ExAC
TOPMed
gnomAD
rs1282804358 768 I>T No TOPMed
gnomAD
rs750480643
COSM2916898
769 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs917805770 769 R>T No TOPMed
gnomAD
COSM727408 770 D>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1168111608 771 E>K No gnomAD
rs1224172652 772 R>I No gnomAD
rs1214120812 773 L>P No TOPMed
rs1214120812 773 L>R No TOPMed
rs200731611 775 K>N No ESP
TOPMed
gnomAD
rs771599362 776 V>G No ExAC
gnomAD
rs772601227 776 V>I No ExAC
TOPMed
gnomAD
TCGA novel 777 F>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 778 T>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs200428962 778 T>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs2082999020 779 L>* No gnomAD
rs2082999020 779 L>S No gnomAD
COSM3584976 780 F>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1009761776 781 Q>E No Ensembl
COSM1036060 781 Q>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs749679527 784 A>T No ExAC
TOPMed
gnomAD
rs373706528 785 Q>K No ESP
ExAC
gnomAD
rs756335958 785 Q>L No ExAC
TOPMed
gnomAD
rs756335958 785 Q>R No ExAC
TOPMed
gnomAD
rs1317267401 786 G>S No gnomAD
rs746095022 786 G>V No ExAC
gnomAD
rs1302489660 788 L>V No TOPMed
gnomAD
rs757333706 789 M>I No ExAC
TOPMed
gnomAD
COSM3584975 789 M>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs781183879 789 M>V No ExAC
TOPMed
gnomAD
rs201762535 790 R>G No ESP
ExAC
TOPMed
gnomAD
COSM3974064 790 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs765296436 790 R>Q No ExAC
TOPMed
gnomAD
rs754913321 792 K>* No ExAC
gnomAD
rs1363268042 793 F>C No gnomAD
rs769557794 795 K>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
TCGA novel 795 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 797 L>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2082998351 798 E>K No Ensembl
rs77864349 799 E>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766209183 800 R>K No ExAC
gnomAD
rs1560373156 801 D>E No Ensembl
rs1263020564 802 A>T No TOPMed
gnomAD
rs1056578602 803 L>F No TOPMed
COSM1417624 805 L>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2082914920 806 I>V No TOPMed
rs1291549060 807 Q>* No TOPMed
gnomAD
rs1427856299 807 Q>R No TOPMed
gnomAD
rs780043827 808 W>* No ExAC
gnomAD
rs1044785108 809 N>S No TOPMed
gnomAD
COSM1036058
rs201762535
810 I>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1047456392 810 I>L No TOPMed
gnomAD
rs1286612242 810 I>T No TOPMed
gnomAD
rs1047456392 810 I>V No TOPMed
gnomAD
rs1432234171 811 R>G No gnomAD
rs914915512 812 A>P No TOPMed
COSM4839524 812 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs373555994 814 M>I No ESP
TOPMed
gnomAD
rs755906960 815 A>S No ExAC
gnomAD
rs935279951 815 A>V No TOPMed
rs74614944 816 V>G No Ensembl
rs202175542 816 V>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs2082914401 817 K>R No gnomAD
rs761316899 819 W>* No ExAC
gnomAD
rs199667941 819 W>* No ExAC
gnomAD
rs751078894 823 R>K No ExAC
gnomAD
rs1428158578 824 L>F No gnomAD
rs763593177 824 L>P No ExAC
TOPMed
gnomAD
rs2082914066 827 K>E No Ensembl
rs1220692624 829 K>E No gnomAD
rs775950006 830 P>A No ExAC
gnomAD
rs1445884048 830 P>L No TOPMed
gnomAD
rs1202324817 832 V>D No gnomAD
rs770092602 833 K>T No ExAC
gnomAD
rs1264156074 834 S>P No gnomAD
rs868106144 835 S>L No Ensembl
rs1227063986 835 S>P No gnomAD
TCGA novel 835 S>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs759973580 836 E>D No ExAC
gnomAD
rs2082913799 836 E>V No Ensembl
rs201317902 837 V>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs776810608 837 V>I No ExAC
TOPMed
gnomAD
rs776810608 837 V>L No ExAC
TOPMed
gnomAD
rs975066764 838 G>A No gnomAD
rs1320349738 839 E>G No gnomAD
rs747161753 839 E>Q No ExAC
gnomAD
rs150652144 840 E>V No 1000Genomes
ExAC
gnomAD
rs1461261234 841 V>I No TOPMed
gnomAD
TCGA novel 844 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 845 K>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs141734511 847 E>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs544597065 847 E>D No ExAC
TOPMed
gnomAD
rs2082913295 847 E>Q No Ensembl
rs1244245804 848 C>G No gnomAD
rs751203641 848 C>Y No ExAC
gnomAD
rs763639811 849 A>E No ExAC
TOPMed
gnomAD
TCGA novel 849 A>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1249303626 850 Q>* No gnomAD
rs769042271 852 Q>R No TOPMed
gnomAD
rs1313755881 853 K>T No gnomAD
rs2082913030 854 A>D No gnomAD
rs2082913030 854 A>V No gnomAD
rs1243052228 855 L>* No gnomAD
rs1243052228 855 L>S No gnomAD
COSM3584973 858 S>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs898988719 859 E>* No Ensembl
rs199891355 859 E>V No 1000Genomes
ExAC
gnomAD
COSM1036057 860 F>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs148022324 861 Q>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2082912856 861 Q>R No TOPMed
gnomAD
rs1370903467 862 R>K No TOPMed
gnomAD
rs765793229 862 R>S No ExAC
TOPMed
gnomAD
rs780174718 862 R>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
rs2107571410 862 R>W No Ensembl
rs956051156 863 E>K No TOPMed
gnomAD
rs956051156 863 E>Q No TOPMed
gnomAD
rs759901067 864 E>K No ExAC
gnomAD
rs1426571425 865 L>P No gnomAD
COSM5397738
rs1384670877
866 K>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
COSM3845755 867 A>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2082912570 867 A>T No TOPMed
rs771195898 868 K>R No ExAC
gnomAD
rs761035350 869 Q>H No ExAC
gnomAD
COSM727409 869 Q>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2082912409 870 V>E No TOPMed
rs375541161 870 V>I No ExAC
TOPMed
gnomAD
rs375541161 870 V>L No ExAC
TOPMed
gnomAD
rs952191001 873 T>I No TOPMed
gnomAD
rs748263267 873 T>P No ExAC
rs778804255 874 Q>* No ExAC
gnomAD
rs2082912243 875 E>D No Ensembl
TCGA novel 876 K>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs769778010 876 K>Q No ExAC
gnomAD
rs201541992 877 N>I No ESP
ExAC
TOPMed
gnomAD
rs2082912073 878 D>E No Ensembl
rs1333849906 878 D>V No TOPMed
gnomAD
TCGA novel 879 L>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1308883914 879 L>P No gnomAD
COSM1308361 879 L>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs370952356 879 L>V No Ensembl
TCGA novel 881 L>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs781102092 882 Q>* No ExAC
TOPMed
gnomAD
COSM4112066 882 Q>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs757020043 882 Q>R No ExAC
gnomAD
rs754911212 883 L>P No Ensembl
rs1301495884 884 Q>R No gnomAD
rs1406883954 885 A>S No gnomAD
rs1406883954 885 A>T No gnomAD
rs746700628 885 A>V No ExAC
gnomAD
rs912463985 886 E>D No Ensembl
rs770838164 887 Q>R No Ensembl
rs1460754103 888 E>* No gnomAD
rs200340625 891 A>T No Ensembl
rs2082883051 891 A>V No Ensembl
COSM1327129 892 N>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2082883027 892 N>H No TOPMed
rs1397344653 892 N>K No TOPMed
rs954000195 893 V>A No TOPMed
gnomAD
rs766817556 893 V>I No ExAC
TOPMed
gnomAD
rs1173344613 895 E>K No TOPMed
gnomAD
rs767992111 897 C>G No ExAC
gnomAD
rs1560372432 897 C>M Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs767992111 897 C>R No ExAC
gnomAD
rs1299080711 897 C>S No TOPMed
gnomAD
rs1339139446 898 E>D No TOPMed
gnomAD
rs774418341 898 E>K No ExAC
TOPMed
gnomAD
rs774418341 898 E>Q No ExAC
TOPMed
gnomAD
rs2082882672 899 W>L No TOPMed
TCGA novel 901 I>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs764270931 901 I>V No ExAC
gnomAD
rs1166924897 902 K>E No gnomAD
rs2082882542 904 K>E No TOPMed
gnomAD
rs775588566 905 I>M No ExAC
gnomAD
rs182671464 905 I>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs2107568941 907 L>P No Ensembl
rs368092347 913 E>A No ESP
TOPMed
gnomAD
rs1442768045 913 E>Q No gnomAD
rs773055758 915 S>* No ExAC
TOPMed
gnomAD
rs1279287258 915 S>P No TOPMed
rs1245285712 917 R>S No gnomAD
rs1576235582 918 V>G No Ensembl
TCGA novel 919 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1381251861 919 E>K No TOPMed
gnomAD
rs1381251861 919 E>Q No TOPMed
gnomAD
TCGA novel 919 E>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs987276966 919 E>V No TOPMed
gnomAD
rs1449264862 920 E>K No gnomAD
rs778462834 921 E>G No ExAC
TOPMed
gnomAD
rs370643790 923 E>A No ESP
rs1474177084 923 E>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs768305577 923 E>K No ExAC
TOPMed
gnomAD
rs748763738 924 I>M No ExAC
gnomAD
rs2082881710 924 I>V No Ensembl
rs1443942160 926 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs367785801 927 E>G No ESP
TOPMed
VAR_030237
rs12638212
929 T>I No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs12638212 929 T>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2082881509 930 A>S No Ensembl
rs750956706 930 A>V No ExAC
TOPMed
gnomAD
rs1383362656 931 R>K No TOPMed
gnomAD
rs1345340125 932 G>E No TOPMed
rs1345340125 932 G>V No TOPMed
rs1317895575 933 R>G No TOPMed
rs781725412 933 R>Q No ExAC
TOPMed
gnomAD
rs2082881281 935 L>F No Ensembl
COSM2916885
rs773055758
935 L>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1275449060 936 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs764240985 937 D>A No ExAC
gnomAD
rs752722233 938 E>D No ExAC
gnomAD
rs1225460554 939 C>F No TOPMed
gnomAD
rs2082881089 939 C>R No TOPMed
rs2082881025 940 F>S No Ensembl
rs1307622889 941 E>A No TOPMed
gnomAD
rs1275560159 942 L>W No gnomAD
rs371327462 944 K>T No ESP
ExAC
TOPMed
gnomAD
rs1357328549 945 E>A No gnomAD
COSM4962874
rs779646861
946 I>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs760661921 946 I>T No ExAC
rs2082880807 947 D>G No TOPMed
rs373858705 947 D>H No TOPMed
rs373858705 947 D>N No TOPMed
rs1206930448 950 E>G No TOPMed
TCGA novel 950 E>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs761535712 951 T>A No ExAC
TOPMed
gnomAD
rs761535712 951 T>P No ExAC
TOPMed
gnomAD
rs2107568838
COSM6095828
951 T>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs768199591 952 M>T No ExAC
gnomAD
rs1284405027 952 M>V No Ensembl
rs1308242960 953 L>* No gnomAD
TCGA novel 953 L>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs765618753 953 L>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM2916881
rs1317895575
953 L>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs2107568765 954 V>A No Ensembl
rs748967211 954 V>L No ExAC
gnomAD
rs748967211 954 V>M No ExAC
gnomAD
rs751907919 956 S>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1363164319 956 S>L No gnomAD
rs2107568755 958 K>R No Ensembl
rs2082880362 959 E>K No Ensembl
rs983004146 961 R>C No gnomAD
COSM4844222 961 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs75221360 962 T>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs2082880174 965 H>L No TOPMed
rs1245407296 966 K>E No TOPMed
rs746421802 966 K>R No ExAC
gnomAD
rs1191872448 968 K>E No gnomAD
rs768487321 969 N>T No ExAC
TOPMed
gnomAD
rs775255953 970 L>V No ExAC
gnomAD
rs2082871976 972 E>G No gnomAD
rs1255360466 972 E>K No TOPMed
rs1310095779 973 E>D No gnomAD
rs376731688 973 E>V No ESP
TOPMed
gnomAD
rs2082871807 974 V>A No Ensembl
rs2082871830 974 V>I No TOPMed
rs372918633 975 E>Q No ESP
ExAC
TOPMed
gnomAD
rs2082871671 979 E>G No TOPMed
rs2082871694 979 E>K No TOPMed
rs200445273 980 D>G No ExAC
TOPMed
gnomAD
rs1029964169 980 D>N No TOPMed
gnomAD
rs200445273 980 D>V No ExAC
TOPMed
gnomAD
rs779771539 981 I>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs771343367 981 I>V No ExAC
gnomAD
rs371434654 982 S>N No gnomAD
rs2082871473 985 N>S No TOPMed
rs2082871381 987 A>V No TOPMed
rs1318125569 988 A>D No TOPMed
rs778054496 988 A>S No ExAC
TOPMed
gnomAD
rs370239153 989 K>E No ESP
ExAC
TOPMed
gnomAD
rs376434201 989 K>N No ESP
ExAC
TOPMed
gnomAD
rs2082871224 989 K>T No TOPMed
rs1365452515 990 V>F No TOPMed
gnomAD
rs1225567763 991 V>L No TOPMed
rs1225567763 991 V>M No TOPMed
rs1262927327 993 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs2082871077 994 A>S No TOPMed
rs1289128504 995 H>R No TOPMed
TCGA novel
rs2107567947
997 Q>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs755135787 997 Q>P No ExAC
gnomAD
rs755135787 997 Q>R No ExAC
gnomAD
rs1190529781 998 T>I No TOPMed
gnomAD
rs1190529781 998 T>N No TOPMed
gnomAD
rs1190529781 998 T>S No TOPMed
gnomAD
rs2107567848 999 L>P No Ensembl
rs202235173 1000 D>Y No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs766477573 1001 D>G No ExAC
gnomAD
rs2107567838 1003 H>P No Ensembl
rs1037963328 1004 M>V No TOPMed
gnomAD
rs2082870839 1005 E>K No TOPMed
rs2082870785 1006 E>* No TOPMed
gnomAD
COSM1036054 1006 E>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1007 E>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1210368147 1009 L>R No gnomAD
rs1306496118 1010 S>N No gnomAD
rs1322506623 1010 S>R No TOPMed
rs1306496118 1010 S>T No gnomAD
rs920191078 1013 S>R No TOPMed
rs2082870601 1014 K>N No TOPMed
rs763837928 1015 A>G No ExAC
gnomAD
rs763837928 1015 A>V No ExAC
gnomAD
rs1560366758 1016 N>I No Ensembl
rs2082870331 1018 K>M No Ensembl
rs2107567786 1018 K>N No Ensembl
rs1365872682 1018 K>Q No gnomAD
rs775372825 1019 L>V No ExAC
TOPMed
gnomAD
rs201884560 1020 E>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201884560 1020 E>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1343924771 1021 Q>* No gnomAD
rs1343924771 1021 Q>E No gnomAD
rs2082870185 1021 Q>R No Ensembl
rs776345232 1022 Q>K No ExAC
gnomAD
rs2082870109 1023 V>I No Ensembl
COSM1036053 1024 D>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs376633073 1025 E>K No ESP
ExAC
TOPMed
gnomAD
rs1462153058 1026 L>F No TOPMed
gnomAD
rs1462153058 1026 L>V No TOPMed
gnomAD
rs367902528 1028 G>A No ESP
ExAC
TOPMed
gnomAD
rs1167000457 1028 G>S No TOPMed
gnomAD
rs1283823116 1029 A>D No gnomAD
rs2082870732
COSM1417623
1029 A>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs1207486197 1029 A>T No gnomAD
rs1283823116 1029 A>V No gnomAD
rs2082852008 1030 L>F No Ensembl
rs894085846 1033 E>* No gnomAD
rs2082851801 1033 E>D No gnomAD
rs749554821 1034 R>I No ExAC
TOPMed
gnomAD
rs780357939 1034 R>S No ExAC
TOPMed
gnomAD
rs1560364383 1035 K>R No Ensembl
rs200949025 1036 A>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs1246479721 1036 A>T No gnomAD
rs200949025 1036 A>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1045390645 1037 R>G No TOPMed
rs1345042590 1038 M>R No gnomAD
rs1347139536 1038 M>V No TOPMed
rs2082851242 1040 C>* No TOPMed
gnomAD
rs371742031 1040 C>S No gnomAD
rs906671832 1041 E>D No gnomAD
TCGA novel 1041 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3584970 1042 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs371676709 1043 E>D No ESP
ExAC
TOPMed
gnomAD
TCGA novel 1044 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs758474084 1045 H>D No ExAC
gnomAD
rs758474084 1045 H>N No ExAC
gnomAD
rs367685351 1046 K>Q No ESP
ExAC
TOPMed
gnomAD
COSM4830197 1047 L>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3845754 1047 L>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3845753 1048 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2082850964 1049 G>D No TOPMed
gnomAD
rs754788223 1050 N>S No ExAC
gnomAD
COSM3914479
rs894085846
1053 L>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs753535923 1053 L>P No ExAC
gnomAD
rs749554821 1054 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs760178988 1055 R>L No ExAC
TOPMed
gnomAD
rs760178988 1055 R>Q No ExAC
TOPMed
gnomAD
rs1268054279 1056 E>A No gnomAD
rs1268054279 1056 E>V No gnomAD
rs1209072266 1058 M>T No TOPMed
gnomAD
rs762354812 1058 M>V No ExAC
TOPMed
gnomAD
rs1323114620 1059 E>K No TOPMed
gnomAD
rs371025167 1060 N>Y No ESP
ExAC
TOPMed
gnomAD
rs2082850195 1063 S>G No TOPMed
gnomAD
rs2082850145 1064 S>N No Ensembl
rs1242678200 1064 S>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs148843085 1065 Q>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1065 Q>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs775654821 1066 R>* No ExAC
TOPMed
gnomAD
rs542819427 1066 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs746076141 1067 H>Y No ExAC
TOPMed
gnomAD
COSM4919513 1068 L>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2082849807 1069 A>G No TOPMed
rs771115343 1069 A>S No ExAC
TOPMed
gnomAD
rs771115343 1069 A>T No ExAC
TOPMed
gnomAD
rs907796116 1071 E>* No TOPMed
gnomAD
rs907796116 1071 E>K No TOPMed
gnomAD
rs1424485261 1074 K>E No TOPMed
gnomAD
rs2082773670 1075 K>* No gnomAD
rs2082773639 1075 K>N No TOPMed
gnomAD
rs201356810 1075 K>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1228265579 1076 E>D No TOPMed
gnomAD
rs1276046275
COSM3845752
1076 E>G breast Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
gnomAD
NCI-TCGA Cosmic
rs2082773601 1076 E>Q No gnomAD
rs2082773502 1077 L>F No gnomAD
COSM3914478 1077 L>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs375840214 1078 E>D No ESP
ExAC
TOPMed
gnomAD
rs1576228990 1078 E>Q No Ensembl
rs1449143215 1079 L>M No gnomAD
rs2082773285 1082 M>I No Ensembl
rs534599773 1082 M>T No ExAC
TOPMed
gnomAD
rs961889513 1087 E>D No TOPMed
gnomAD
rs1404700124 1088 N>S No gnomAD
rs1411488605 1089 E>* No gnomAD
rs780842719 1091 G>C No ExAC
gnomAD
rs1379477255 1093 V>E No TOPMed
gnomAD
rs756842073 1094 A>S No ExAC
gnomAD
rs1227195542 1094 A>V No TOPMed
gnomAD
rs751069085 1095 Q>* No ExAC
gnomAD
rs199968089 1095 Q>R No ExAC
TOPMed
gnomAD
TCGA novel 1096 L>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2082772763 1096 L>P No TOPMed
TCGA novel 1098 K>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs139487163 1099 T>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369281600 1100 V>F No ESP
ExAC
TOPMed
gnomAD
TCGA novel
rs2082772630
1100 V>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No gnomAD
NCI-TCGA
rs777087691 1102 E>D No ExAC
gnomAD
rs765676734 1102 E>K No ExAC
rs573415100 1103 L>F No 1000Genomes
ExAC
TOPMed
gnomAD
COSM4856295 1105 T>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs3900940
VAR_030238
1105 T>A No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs3900940 1105 T>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM4932326 1107 I>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4834896 1109 D>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1389710892 1110 L>S No TOPMed
gnomAD
rs1309912551 1111 K>N No TOPMed
rs955221115 1111 K>T No TOPMed
rs1028623466 1112 E>* No TOPMed
rs372228938 1115 E>G No ESP
rs776471445 1116 A>G No ExAC
TOPMed
gnomAD
rs759460238 1116 A>T No ExAC
gnomAD
rs2082772738
COSM4488553
1117 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs2082751262 1118 R>S No TOPMed
rs2082751218 1119 T>A No gnomAD
rs376230773 1119 T>I No ExAC
TOPMed
gnomAD
rs1191166824 1120 T>I No TOPMed
RCV000955162
rs61744539
1121 R>* No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs777324136 1121 R>Q No ExAC
TOPMed
gnomAD
TCGA novel 1123 K>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2107560367 1124 M>L No Ensembl
rs1261020935 1124 M>T No gnomAD
rs1310006371 1125 E>K No gnomAD
rs1280163980 1126 R>G No gnomAD
rs2082750626 1127 E>A No TOPMed
gnomAD
rs1159962758 1127 E>Q No TOPMed
rs2082750526 1129 A>D No Ensembl
COSM262216 1129 A>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1130 D>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1362382385 1131 L>P No gnomAD
TCGA novel 1132 T>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs755610397 1133 Q>* No ExAC
TOPMed
rs755610397 1133 Q>E No ExAC
TOPMed
rs1446099713 1134 D>E No TOPMed
gnomAD
rs2082750386 1134 D>G No Ensembl
rs780604345 1136 A>G No ExAC
gnomAD
rs267599528 1138 L>F No TOPMed
gnomAD
rs1388908021 1139 N>K No gnomAD
rs2082750223 1139 N>S No gnomAD
rs1366554743 1140 E>* No TOPMed
rs1325149626 1141 R>W No gnomAD
rs558561858 1142 L>M No ExAC
TOPMed
gnomAD
rs558561858 1142 L>V No ExAC
TOPMed
gnomAD
rs750765531 1143 E>G No ExAC
gnomAD
rs767645025 1144 E>D No ExAC
gnomAD
rs1576227736 1144 E>G No Ensembl
rs747627053 1144 E>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs762025709 1145 V>E No ExAC
gnomAD
rs762025709 1145 V>G No ExAC
gnomAD
COSM727413
rs1159962758
1147 G>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs1365090289 1147 G>R No TOPMed
rs367780224 1149 S>G No ESP
ExAC
TOPMed
gnomAD
rs999832007
COSM200934
1149 S>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs757793524 1152 Q>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
COSM3584968 1152 Q>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1153 L>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs759523336 1153 L>P No ExAC
TOPMed
gnomAD
COSM3584967 1154 E>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs776521999 1154 E>G No ExAC
gnomAD
rs1041348549 1156 T>I No gnomAD
rs2082749621 1158 K>E No TOPMed
gnomAD
rs1311782015 1159 Q>E No gnomAD
rs141309745 1160 E>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs141309745 1160 E>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs760486327 1161 T>I No ExAC
TOPMed
gnomAD
rs760486327 1161 T>N No ExAC
TOPMed
gnomAD
rs1221491720 1162 K>T No TOPMed
rs1409363355 1163 F>C No gnomAD
rs1409363355 1163 F>S No gnomAD
rs1368776864 1164 Q>L No gnomAD
rs1368776864 1164 Q>R No gnomAD
rs2082749325 1165 K>E No TOPMed
gnomAD
rs765247899 1166 L>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1045523804 1166 L>P No TOPMed
gnomAD
rs1368348537 1167 H>N No gnomAD
rs2107560221 1167 H>R No Ensembl
rs1425888536 1168 R>* No TOPMed
gnomAD
rs1419662386 1169 D>N No gnomAD
rs1482490490 1172 E>A No gnomAD
rs1248989110 1174 T>A No gnomAD
rs1480931862 1175 L>Q No gnomAD
rs768249808 1175 L>V No ExAC
TOPMed
gnomAD
rs2082747001 1178 E>G No TOPMed
gnomAD
rs1386435836 1178 E>K No gnomAD
rs2107560178 1179 T>A No Ensembl
rs746794416 1179 T>I No ExAC
TOPMed
gnomAD
rs746794416 1179 T>K No ExAC
TOPMed
gnomAD
rs1347693066 1180 T>A No TOPMed
rs1226352060 1180 T>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs746220980 1182 A>G No ExAC
gnomAD
rs756628630 1182 A>T No ExAC
gnomAD
rs781612328 1183 S>P No ExAC
gnomAD
rs926717023 1185 K>E No TOPMed
gnomAD
rs1055738725 1186 K>E No TOPMed
rs757474471 1186 K>M No ExAC
TOPMed
gnomAD
rs1392011106 1187 R>G No gnomAD
rs1360108818 1187 R>K No Ensembl
rs776507202 1188 H>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1287455788 1188 H>R No TOPMed
gnomAD
rs1354440888 1188 H>Y No TOPMed
gnomAD
rs1437952234 1189 A>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1470992548 1190 D>H No TOPMed
gnomAD
rs752727698 1190 D>V No ExAC
TOPMed
gnomAD
rs867794998 1191 S>N No TOPMed
COSM4112063 1192 L>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs979381478 1193 A>V No Ensembl
rs920617781 1196 E>K No TOPMed
gnomAD
rs2082746050 1197 G>A No Ensembl
rs760541250 1197 G>S No ExAC
gnomAD
rs2082746017 1198 Q>* No TOPMed
rs972055713 1199 V>I No TOPMed
gnomAD
rs2082745878 1201 N>K No Ensembl
rs2082745852 1202 L>V No Ensembl
rs1419121317 1203 Q>* No gnomAD
rs772948146 1203 Q>H No ExAC
TOPMed
rs2082745749 1205 V>G No Ensembl
rs1576227505 1206 K>R No Ensembl
rs1287455788 1208 K>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs552849827 1211 K>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs962322078 1213 K>E No TOPMed
rs2107560064 1213 K>R No Ensembl
rs774084626 1214 S>N No ExAC
gnomAD
COSM727415 1214 S>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1207822793 1215 D>H No TOPMed
gnomAD
rs1327400879 1218 L>P No gnomAD
rs1019158777 1219 E>D No TOPMed
rs60283165 1219 E>Q No TOPMed
gnomAD
rs1239936980 1220 V>A No gnomAD
rs573226732 1220 V>L No TOPMed
gnomAD
rs988064748 1221 D>V No Ensembl
rs1443882759 1222 D>E No TOPMed
rs2082745261 1222 D>G No TOPMed
rs2082745290 1222 D>H No Ensembl
rs866128091 1223 L>F No TOPMed
COSM727416 1223 L>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs953544596 1225 T>A No Ensembl
rs1389038644 1225 T>I No gnomAD
rs775070165 1226 R>C No ExAC
TOPMed
gnomAD
rs775070165 1226 R>G No ExAC
TOPMed
gnomAD
rs770487770 1226 R>H No ExAC
TOPMed
gnomAD
rs2082744784 1227 V>A No Ensembl
rs1386051551 1227 V>L No TOPMed
gnomAD
rs370631377 1229 Q>H No ESP
ExAC
TOPMed
gnomAD
rs746369043 1229 Q>R No ExAC
gnomAD
COSM3584966 1230 M>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs757614231 1230 M>T No ExAC
gnomAD
rs747300219 1231 T>A No ExAC
TOPMed
gnomAD
rs777995938 1231 T>R No ExAC
gnomAD
rs747300219 1231 T>S No ExAC
TOPMed
gnomAD
rs2082744547 1233 A>T No gnomAD
rs377694016 1235 A>S No ESP
TOPMed
gnomAD
rs377694016 1235 A>T No ESP
TOPMed
gnomAD
rs2082680933 1236 N>K No TOPMed
gnomAD
rs1376714406 1237 A>T No TOPMed
gnomAD
rs2082680811 1239 K>R No TOPMed
rs755115200 1240 L>F No ExAC
TOPMed
gnomAD
rs1226862701 1240 L>P No TOPMed
gnomAD
rs1307537910 1241 C>S No gnomAD
rs753811965 1241 C>Y No ExAC
TOPMed
gnomAD
rs1560344099 1242 T>S No Ensembl
COSM1036050
rs2082680339
1243 L>P Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs781200673 1243 L>V No ExAC
gnomAD
rs912925356 1244 Y>* No TOPMed
gnomAD
rs1002122178 1244 Y>H No TOPMed
gnomAD
rs201690373 1247 R>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs139021012 1247 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs764759782 1248 L>F No ExAC
TOPMed
gnomAD
TCGA novel 1249 H>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs369737961 1249 H>D No ESP
ExAC
TOPMed
gnomAD
rs369737961 1249 H>N No ESP
ExAC
TOPMed
gnomAD
rs2082679786 1249 H>P No TOPMed
rs369737961 1249 H>Y No ESP
ExAC
TOPMed
gnomAD
rs892574778 1252 T>A No TOPMed
gnomAD
rs1472326446 1253 A>V No TOPMed
gnomAD
rs2082679626 1254 K>Q No gnomAD
rs1190315730 1256 D>G No gnomAD
rs771476681 1256 D>H No ExAC
gnomAD
rs1460968262 1257 K>E No TOPMed
gnomAD
rs1475627315 1257 K>N No TOPMed
gnomAD
rs2082679411 1257 K>T No TOPMed
TCGA novel 1258 V>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs530559081 1258 V>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs1203063480 1260 Q>* No gnomAD
rs2082679238 1260 Q>L No TOPMed
rs773624503 1262 A>V No ExAC
gnomAD
rs748471051 1263 N>H No ExAC
gnomAD
rs779129105 1264 D>N No ExAC
TOPMed
gnomAD
rs779129105 1264 D>Y No ExAC
TOPMed
gnomAD
COSM1417619
rs1560344013
1265 L>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs1313951956 1267 A>P No Ensembl
rs1313951956 1267 A>T No Ensembl
rs2082678945 1269 K>T No gnomAD
rs2082678920 1270 T>A No gnomAD
rs768700526 1270 T>I No ExAC
gnomAD
rs1355653899 1272 L>R No gnomAD
rs2082678845 1273 W>R No Ensembl
rs1171272569 1273 W>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs548436782 1274 S>G No 1000Genomes
ExAC
rs2107552082 1279 F>V No Ensembl
rs372218284 1281 R>L No ESP
ExAC
gnomAD
rs372218284 1281 R>Q No ESP
ExAC
gnomAD
rs375553224 1281 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1576220227 1282 R>S No TOPMed
rs1194697296 1284 E>D No gnomAD
rs2082638700 1286 K>Q No TOPMed
TCGA novel 1287 E>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs778571430 1287 E>V No ExAC
gnomAD
rs368413041 1288 A>T No ESP
TOPMed
gnomAD
rs1292895525 1289 L>P No TOPMed
gnomAD
rs1218084481 1290 I>M No gnomAD
rs557994087 1290 I>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs1318280411 1290 I>V No gnomAD
rs1156575987 1292 Q>R No TOPMed
gnomAD
rs1480565646 1294 S>A No TOPMed
rs2082638280 1294 S>C No Ensembl
rs2082638239 1295 R>G No Ensembl
rs1380182896 1295 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1194562270 1295 R>M No TOPMed
gnomAD
rs1194562270 1295 R>T No TOPMed
gnomAD
rs2082638138 1296 E>G No TOPMed
COSM1308360 1296 E>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs755026210 1297 K>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs1187695951 1297 K>E No TOPMed
gnomAD
rs1028801593 1298 S>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1576220149 1299 N>S No Ensembl
rs755642380 1300 F>V No ExAC
gnomAD
rs1416624151 1300 F>Y No TOPMed
rs2082637955 1301 T>I No Ensembl
rs374236023 1302 R>W No ESP
ExAC
TOPMed
gnomAD
rs1433192016 1304 I>M No gnomAD
rs1286832407 1304 I>T No TOPMed
gnomAD
rs538713855 1306 D>N No 1000Genomes
ExAC
gnomAD
rs2082637719 1307 L>P No gnomAD
rs368413041 1308 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
NCI-TCGA
TOPMed
gnomAD
rs2082637695 1308 R>T No TOPMed
rs1412801804 1309 G>E No gnomAD
rs2107551999 1309 G>R No Ensembl
rs2082637517 1310 Q>H No TOPMed
rs1174799788 1310 Q>K No TOPMed
gnomAD
rs2082637457 1312 E>G No Ensembl
TCGA novel 1312 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs775603465 1313 K>R No ExAC
TOPMed
gnomAD
rs775603465 1313 K>T No ExAC
TOPMed
gnomAD
rs1166087449 1314 E>D No TOPMed
gnomAD
TCGA novel 1314 E>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1377266671 1315 T>I No TOPMed
gnomAD
COSM3584962 1316 K>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1409266128 1318 Q>* No gnomAD
rs143032325 1320 A>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs143032325 1320 A>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs143032325 1320 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs2082618454 1321 L>Q No Ensembl
rs370801864 1322 A>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
rs1462890372 1322 A>V No gnomAD
rs2082618325 1323 H>L No TOPMed
rs983728172 1323 H>Y No TOPMed
gnomAD
rs2082618264 1325 L>V No TOPMed
gnomAD
rs2107550478 1326 Q>H No Ensembl
TCGA novel 1326 Q>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM1036049 1328 A>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1459564622 1328 A>S No gnomAD
rs761850104 1329 Q>* No ExAC
gnomAD
rs774187672 1330 R>C No ExAC
TOPMed
gnomAD
rs768579358 1330 R>P No ExAC
TOPMed
gnomAD
rs774187672 1330 R>S No ExAC
TOPMed
gnomAD
rs1178893274 1331 D>A No TOPMed
gnomAD
rs1178893274 1331 D>G No TOPMed
gnomAD
TCGA novel 1332 C>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs377392126 1332 C>R No ESP
ExAC
TOPMed
gnomAD
rs779820215 1332 C>Y No ExAC
gnomAD
COSM4112062 1334 L>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2082618009 1334 L>F No gnomAD
rs769492679 1334 L>R No ExAC
gnomAD
rs200052069 1336 R>* No ESP
ExAC
TOPMed
gnomAD
rs780716253 1337 E>A No ExAC
gnomAD
rs2082617880 1338 Q>* No Ensembl
rs756789079 1338 Q>H No ExAC
gnomAD
rs546844287 1340 E>A No Ensembl
rs1374753275 1341 E>K No gnomAD
TCGA novel 1342 E>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs111313475 1345 V>I No gnomAD
rs758876374 1347 A>P No ExAC
TOPMed
gnomAD
rs758876374 1347 A>T No ExAC
TOPMed
gnomAD
rs753074133 1348 E>A No ExAC
gnomAD
COSM1036048
rs768579358
1350 H>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1165179951 1350 H>P No gnomAD
rs2082617471 1350 H>Y No TOPMed
TCGA novel 1351 R>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs202066788 1351 R>P No ESP
ExAC
TOPMed
gnomAD
rs202066788 1351 R>Q No ESP
ExAC
TOPMed
gnomAD
rs373059438 1351 R>W No ESP
ExAC
TOPMed
gnomAD
rs1301703596 1352 T>I No Ensembl
rs2082617282 1353 L>V No Ensembl
COSM727417 1353 L>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1490415576 1354 S>Y No TOPMed
gnomAD
rs2082617225 1355 K>N No TOPMed
rs1456283634 1356 V>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1267055483 1357 N>S No gnomAD
rs2082617801
TCGA novel
1359 E>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs375146447 1360 M>I No ESP
TOPMed
gnomAD
rs1208466700 1360 M>V No gnomAD
rs891502172 1362 Q>P No TOPMed
gnomAD
rs1253934735 1363 W>* No gnomAD
rs2082617021 1363 W>C No TOPMed
rs1221593372 1364 R>I No TOPMed
gnomAD
rs1221593372 1364 R>K No TOPMed
gnomAD
TCGA novel 1365 M>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs762935140 1365 M>T No ExAC
TOPMed
gnomAD
rs1002797651 1367 Y>* No TOPMed
gnomAD
rs1053167985 1367 Y>C No Ensembl
rs199899076 1367 Y>H No TOPMed
gnomAD
TCGA novel 1368 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs373333965 1369 N>D No ESP
ExAC
TOPMed
gnomAD
rs1239830731 1369 N>T No gnomAD
rs769543583 1370 N>I No ExAC
gnomAD
rs769543583 1370 N>S No ExAC
gnomAD
rs1372197006 1372 I>T No gnomAD
rs1237032832 1372 I>V No gnomAD
rs1252454656 1374 R>K No gnomAD
rs1320231406 1375 T>I No gnomAD
TCGA novel 1377 D>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1382264485 1377 D>V No TOPMed
gnomAD
rs745618134 1378 L>V No ExAC
gnomAD
rs1453818274 1379 E>K No gnomAD
rs888151612 1381 A>T No TOPMed
gnomAD
rs1560335288 1381 A>V No TOPMed
gnomAD
COSM727418 1382 K>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs770556828 1382 K>M No ExAC
gnomAD
rs1272886772 1383 K>* No gnomAD
rs1272886772 1383 K>Q No gnomAD
rs2082588253 1383 K>T No gnomAD
rs772650447 1386 A>P No ExAC
gnomAD
rs772650447 1386 A>T No ExAC
gnomAD
rs1227715330 1388 R>* No gnomAD
rs1290954193 1391 E>Q No gnomAD
rs1416054612 1392 A>T No gnomAD
rs542966194 1393 A>T No 1000Genomes
ExAC
gnomAD
rs781352497 1393 A>V No ExAC
TOPMed
gnomAD
rs780451767 1395 A>D No ExAC
TOPMed
gnomAD
rs767591890 1396 M>I No ExAC
TOPMed
gnomAD
rs1376759057 1396 M>T No gnomAD
rs138368273 1396 M>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2082587624 1397 G>E No TOPMed
rs757376618 1397 G>R No ExAC
TOPMed
gnomAD
rs371195676 1398 V>L No ExAC
TOPMed
gnomAD
rs371195676 1398 V>M No ExAC
TOPMed
gnomAD
COSM3845750 1399 A>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs868809361 1400 N>D No Ensembl
COSM4942169 1400 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs759468299 1400 N>S No ExAC
TOPMed
gnomAD
rs200032613 1401 A>T No ESP
ExAC
TOPMed
gnomAD
rs766179051 1402 R>G No ExAC
TOPMed
gnomAD
rs1456831437 1402 R>T No TOPMed
gnomAD
rs1270875950 1403 N>K No gnomAD
rs1333750850 1403 N>S No gnomAD
rs1171234434 1403 N>Y No gnomAD
rs1234654753 1404 A>D No TOPMed
gnomAD
COSM2916842
rs267599527
1404 A>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs2107548194 1404 A>T No Ensembl
rs985210195 1405 S>A No TOPMed
gnomAD
COSM4112061 1408 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2082587056 1409 A>D No TOPMed
rs202050761 1409 A>S No ExAC
TOPMed
gnomAD
rs202050761 1409 A>T No ExAC
TOPMed
gnomAD
rs2082587056 1409 A>V No TOPMed
COSM1484407
rs1310644215
1410 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs2082587026 1410 R>K No TOPMed
TCGA novel 1411 H>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs771576259 1412 Q>* No ExAC
gnomAD
rs2082586895 1413 L>M No TOPMed
gnomAD
TCGA novel 1414 Q>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2107548162 1414 Q>H No Ensembl
rs749735364 1414 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2082586838 1415 L>Q No TOPMed
rs1392625609 1416 E>A No gnomAD
rs2107548159 1416 E>K No Ensembl
rs1447490980 1417 L>F No TOPMed
gnomAD
rs116812035 1418 G>E No 1000Genomes
rs368538771 1418 G>R No ESP
ExAC
TOPMed
gnomAD
rs368538771 1418 G>W No ESP
ExAC
TOPMed
gnomAD
rs769342956 1419 D>H No ExAC
TOPMed
gnomAD
rs769342956 1419 D>N No ExAC
TOPMed
gnomAD
rs1560331467 1420 A>V No TOPMed
rs371874774 1422 S>P No ESP
ExAC
TOPMed
gnomAD
rs1576216173 1423 D>A No Ensembl
rs894730283 1424 L>F No TOPMed
rs2082586360 1424 L>R No TOPMed
rs368421301 1425 G>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs368421301 1425 G>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs374123168 1427 V>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1428 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs367795542 1428 R>L No ESP
ExAC
TOPMed
gnomAD
rs760289290 1428 R>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1368518788 1429 S>P No gnomAD
rs2082586096 1430 A>V No Ensembl
rs2082586026 1433 R>K No Ensembl
rs572542760 1434 L>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs2107548089 1434 L>P No Ensembl
rs768249620 1438 Q>E No ExAC
TOPMed
gnomAD
rs768249620 1438 Q>K No ExAC
TOPMed
gnomAD
rs2082585814 1439 L>R No gnomAD
rs376553191 1440 Q>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1420598901 1443 K>R No TOPMed
rs770137501 1444 A>G No ExAC
TOPMed
gnomAD
rs770137501 1444 A>V No ExAC
TOPMed
gnomAD
rs2082585614 1445 L>P No TOPMed
rs746244616 1446 A>T No ExAC
gnomAD
COSM75513 1447 D>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
VAR_046376
RCV000963823
rs1078456
1447 D>N No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1414594733 1448 W>* No gnomAD
rs780642878 1448 W>* No Ensembl
rs370569963
COSM3584960
1448 W>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs367795542
COSM4112060
1448 W>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM445264 1448 W>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs747213332 1449 K>E No ExAC
TOPMed
gnomAD
rs747213332 1449 K>Q No ExAC
TOPMed
gnomAD
rs777874794 1450 Q>* No ExAC
gnomAD
rs758508554 1451 K>R No ExAC
TOPMed
gnomAD
rs1210090412 1452 H>P No gnomAD
rs1219568383 1453 E>D No gnomAD
rs370933466 1453 E>Q No ESP
ExAC
TOPMed
gnomAD
rs767396705 1454 E>D No ExAC
TOPMed
gnomAD
rs755940003 1454 E>G No ExAC
TOPMed
gnomAD
rs1433077539 1455 S>T No gnomAD
TCGA novel
rs2082584847
1455 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No gnomAD
NCI-TCGA
rs761597478 1456 Q>* No ExAC
TOPMed
gnomAD
TCGA novel 1456 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs763787418 1457 A>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs377336538 1457 A>S No ESP
ExAC
TOPMed
gnomAD
rs774793459 1460 D>G No ExAC
gnomAD
rs2082584447 1460 D>Y No TOPMed
COSM419466 1461 A>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2082584364 1461 A>T No Ensembl
rs770397276 1462 S>C No ExAC
gnomAD
rs770397276 1462 S>F No ExAC
gnomAD
rs2082584255 1463 Q>* No TOPMed
COSM397217
rs776083168
1464 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs2082584112 1466 V>G No TOPMed
rs2107547976 1466 V>I No Ensembl
rs2082584022 1468 A>G No Ensembl
rs1438341493 1468 A>T No TOPMed
gnomAD
rs752487450 1470 S>R No TOPMed
gnomAD
rs370933466 1473 L>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2107547956 1475 K>E No Ensembl
COSM3584959 1475 K>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs759950008 1476 L>V No ExAC
TOPMed
gnomAD
rs1382006987 1477 K>N No TOPMed
rs771258799 1477 K>R No ExAC
gnomAD
rs763787418 1477 K>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1440550641 1479 T>I No TOPMed
rs747338176 1480 Y>C No ExAC
TOPMed
gnomAD
rs2082583401 1480 Y>D No TOPMed
gnomAD
rs1270553658 1481 E>K No gnomAD
rs1158282074 1482 E>D No TOPMed
COSM445263
rs2107547981
1483 S>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1341319382 1484 I>V No gnomAD
rs2082582937 1485 V>A No Ensembl
COSM3584958 1485 V>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs200554722 1485 V>L No ExAC
TOPMed
gnomAD
rs200554722 1485 V>M No ExAC
TOPMed
gnomAD
rs369183075 1486 G>S No ESP
ExAC
TOPMed
gnomAD
COSM6162796 1487 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1461860635 1487 Q>R No gnomAD
rs1435008713 1488 E>K No TOPMed
gnomAD
rs925048760 1489 T>A No TOPMed
gnomAD
COSM1417616 1489 T>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs925048760 1489 T>S No TOPMed
gnomAD
rs1353132762 1490 L>H No TOPMed
gnomAD
rs781234433 1491 R>G No ExAC
TOPMed
gnomAD
rs781234433 1491 R>W No ExAC
TOPMed
gnomAD
rs1240335586 1492 R>M No TOPMed
gnomAD
TCGA novel 1492 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs757140894 1493 E>K No ExAC
TOPMed
gnomAD
rs1276596924 1494 N>S No TOPMed
gnomAD
rs979203030 1495 K>R No TOPMed
gnomAD
rs751338053 1496 N>Y No ExAC
TOPMed
gnomAD
COSM1036047 1497 L>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs745415744 1498 Q>R No TOPMed
gnomAD
TCGA novel 1502 S>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs558321309 1502 S>Y No 1000Genomes
ExAC
TOPMed
gnomAD
rs372774335 1503 N>S No ESP
ExAC
TOPMed
gnomAD
rs753287606 1507 Q>* No 1000Genomes
ExAC
gnomAD
rs1321203717 1509 R>K No TOPMed
rs1321203717 1509 R>T No TOPMed
rs761166970 1510 E>D No ExAC
gnomAD
TCGA novel 1510 E>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1343431349 1512 T>S No gnomAD
rs1160387619 1515 L>* No gnomAD
rs767741062 1516 T>A No ExAC
gnomAD
rs199782617 1516 T>I No ExAC
TOPMed
gnomAD
rs199782617 1516 T>N No ExAC
TOPMed
gnomAD
rs1435167074 1520 K>E No gnomAD
rs768865349 1520 K>N No ExAC
TOPMed
gnomAD
rs1472766675 1521 V>F No TOPMed
gnomAD
rs1472766675
COSM4929450
1521 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No TOPMed
gnomAD
NCI-TCGA Cosmic
TCGA novel 1521 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs900443265 1522 K>N No TOPMed
gnomAD
rs1033473783 1522 K>R No TOPMed
gnomAD
rs1195459776 1524 L>P No TOPMed
gnomAD
rs749378700 1525 I>N No ExAC
rs749378700 1525 I>T No ExAC
rs1347742774 1528 E>G No gnomAD
rs771047749 1529 K>E No ExAC
TOPMed
gnomAD
rs2082561585 1531 E>* No Ensembl
rs2082561585 1531 E>Q No Ensembl
rs967907047 1532 V>F No TOPMed
gnomAD
rs967907047 1532 V>I No TOPMed
gnomAD
rs2082561525 1533 Q>E No TOPMed
RCV000998120
rs1332521067
1533 Q>H No ClinVar
dbSNP
gnomAD
rs758161683 1534 V>A No ExAC
gnomAD
rs2082561470 1534 V>M No TOPMed
rs1381236156 1535 T>A No gnomAD
rs1381236156 1535 T>S No gnomAD
rs2082561324 1539 T>A No Ensembl
rs2082561275 1540 E>G No Ensembl
rs1576214333 1540 E>K No TOPMed
gnomAD
rs759650578 1542 A>D No ExAC
TOPMed
gnomAD
rs747904706 1545 R>H No ExAC
TOPMed
gnomAD
rs747904706 1545 R>L No ExAC
TOPMed
gnomAD
rs200741935 1545 R>S No ESP
ExAC
TOPMed
gnomAD
rs1193912770 1546 N>S No TOPMed
gnomAD
TCGA novel 1547 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1402675031 1548 S>N No TOPMed
gnomAD
rs1167068280 1548 S>R No 1000Genomes
gnomAD
rs868715468 1551 L>F No gnomAD
rs2082539305 1552 H>R No TOPMed
COSM3584956 1553 F>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2082539273 1554 Q>* No gnomAD
rs778768191 1559 E>D No ExAC
gnomAD
rs2082539249 1559 E>Q No Ensembl
TCGA novel 1560 A>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1255409643 1560 A>T No gnomAD
rs371486534 1560 A>V No ESP
ExAC
gnomAD
rs2082539158 1561 K>N No gnomAD
rs530022684 1563 E>G No ExAC
TOPMed
gnomAD
rs200741935
COSM1036046
1565 E>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1250293917 1565 E>G No gnomAD
rs1025284099 1568 L>F No TOPMed
gnomAD
rs1315730279 1570 E>K No gnomAD
rs559291875 1571 K>E No Ensembl
rs779639902 1572 D>N No ExAC
gnomAD
rs1333546119 1573 E>V No gnomAD
TCGA novel 1575 I>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM727420 1575 I>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1246944831 1575 I>M No TOPMed
gnomAD
rs2082538624 1576 E>K No TOPMed
rs749874957 1578 F>L No ExAC
TOPMed
gnomAD
rs2082538510 1579 R>M No gnomAD
rs1442039698 1580 R>K No gnomAD
rs1442039698 1580 R>T No gnomAD
rs1381354737 1581 K>E No gnomAD
rs1193369139 1581 K>T No gnomAD
rs1453475365 1582 Q>* No TOPMed
gnomAD
rs1453475365 1582 Q>K No TOPMed
gnomAD
COSM1036045 1583 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1307270266 1584 C>R No TOPMed
gnomAD
rs2082486776 1585 T>N No gnomAD
COSM3914475
rs1194402426
1586 I>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs199960886 1586 I>T No ExAC
TOPMed
gnomAD
rs768410828 1587 D>N No ExAC
gnomAD
rs1226104113 1588 S>Y No TOPMed
gnomAD
rs779691599 1590 Q>* No ExAC
TOPMed
gnomAD
rs779691599 1590 Q>K No ExAC
TOPMed
gnomAD
rs769365824 1590 Q>L No ExAC
TOPMed
gnomAD
rs1355715908 1591 S>C No gnomAD
rs2107541094 1591 S>P No Ensembl
rs1286524347 1592 S>N No TOPMed
gnomAD
rs746834075 1594 D>A No ExAC
TOPMed
gnomAD
rs2082486491 1594 D>F No Ensembl
COSM1036044 1596 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs957547956 1597 A>G No Ensembl
COSM1036043 1597 A>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM1036042 1598 K>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1177991578 1598 K>E No TOPMed
gnomAD
rs1305033001 1598 K>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1250147372 1599 S>G No TOPMed
rs1365823809 1599 S>N No gnomAD
TCGA novel 1599 S>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs780739948 1604 T>I No ExAC
TOPMed
gnomAD
rs747517918 1605 R>Q No ExAC
TOPMed
gnomAD
rs757752612 1605 R>W No ExAC
TOPMed
gnomAD
TCGA novel 1606 L>M Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2082486197 1606 L>Q No Ensembl
rs758857596 1608 K>N No ExAC
TOPMed
gnomAD
rs1173470254 1609 K>R No TOPMed
gnomAD
rs368978117 1610 M>I No ESP
ExAC
TOPMed
gnomAD
rs919775943 1612 E>A No TOPMed
rs1169706408 1612 E>D No gnomAD
rs1024468519 1613 D>N No TOPMed
rs376603685 1613 D>V No ESP
ExAC
gnomAD
TCGA novel 1614 L>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs372576258 1615 N>S No ESP
ExAC
TOPMed
gnomAD
rs201556869 1617 M>I No ESP
ExAC
TOPMed
gnomAD
rs1576208641 1619 L>F No TOPMed
rs1286628474 1620 Q>H No gnomAD
COSM4112059 1621 L>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1191689121 1621 L>V No TOPMed
gnomAD
rs1490905200 1623 C>* No gnomAD
rs1209972324 1624 A>D No TOPMed
gnomAD
rs1310220313 1625 N>H No TOPMed
gnomAD
rs766463242 1625 N>S No ExAC
gnomAD
rs774364586 1626 R>Q No ExAC
TOPMed
gnomAD
rs761699091 1626 R>W No ExAC
TOPMed
gnomAD
rs1576208608 1628 V>G No Ensembl
rs763958814 1628 V>L No ExAC
TOPMed
gnomAD
rs1401913242 1629 S>* No TOPMed
gnomAD
rs775256596 1630 E>K No ExAC
gnomAD
rs775256596 1630 E>Q No ExAC
gnomAD
rs2082485266 1631 A>E No TOPMed
COSM3584955 1631 A>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs187218353 1634 S>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs187218353 1634 S>Y No 1000Genomes
ExAC
TOPMed
gnomAD
rs1177191360 1638 L>I No gnomAD
rs1418321575 1639 Q>H No gnomAD
rs746457416 1639 Q>R No ExAC
TOPMed
gnomAD
rs2107540987 1640 I>L No Ensembl
rs888294046 1643 K>N No gnomAD
COSM1130382 1643 K>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs772767610 1645 L>F No ExAC
gnomAD
rs748647507 1645 L>H No ExAC
TOPMed
gnomAD
rs2082482542 1647 M>V No Ensembl
rs1409447903 1649 L>Q No Ensembl
rs1223649976 1650 D>E No TOPMed
gnomAD
rs201940859 1651 D>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs981779706 1651 D>G No TOPMed
gnomAD
rs769098475 1652 S>N No ExAC
TOPMed
gnomAD
rs769098475 1652 S>T No ExAC
TOPMed
gnomAD
rs1442792908 1654 Q>* No TOPMed
gnomAD
COSM1036041 1654 Q>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs749555644 1656 N>D No ExAC
gnomAD
rs780325073 1657 S>G No ExAC
gnomAD
COSM3584954 1661 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs376922583 1662 Q>E No ESP
ExAC
TOPMed
gnomAD
rs1165414478 1665 V>L No TOPMed
gnomAD
rs1165414478 1665 V>M No TOPMed
gnomAD
rs1426187801 1667 E>K No TOPMed
gnomAD
rs758371116 1668 R>W No ExAC
TOPMed
gnomAD
rs76478083
RCV000970923
1669 R>C No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs76478083 1669 R>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs765108967 1669 R>H No ExAC
TOPMed
gnomAD
rs765108967 1669 R>L No ExAC
TOPMed
gnomAD
COSM479192 1670 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3584953 1670 N>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs900963129 1671 S>C No Ensembl
rs900963129 1671 S>F No Ensembl
rs759391413 1672 L>F No ExAC
TOPMed
gnomAD
rs759391413 1672 L>I No ExAC
TOPMed
gnomAD
rs1189613677 1674 Q>P No TOPMed
gnomAD
rs1560317075
COSM4550555
1678 E>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs766123249 1679 D>A No ExAC
TOPMed
gnomAD
rs756282159
COSM1417614
1679 D>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
COSM3584952 1681 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs760232088 1681 R>S No ExAC
gnomAD
rs2082481493 1681 R>T No TOPMed
rs2082481404 1684 Q>K No Ensembl
rs550107506 1684 Q>R No ExAC
gnomAD
rs761370381 1685 E>K No ExAC
TOPMed
gnomAD
rs369988310 1686 Q>* No ESP
ExAC
TOPMed
gnomAD
rs2082481264 1686 Q>H No Ensembl
rs2082481232 1687 T>I No TOPMed
rs2082481185 1688 E>D No TOPMed
rs1384658269 1688 E>G No gnomAD
COSM1417613
rs368123037
1688 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs537723723 1689 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs537723723 1689 R>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs764524701 1691 R>C No ExAC
TOPMed
gnomAD
rs372228730 1691 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372228730 1691 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2082480912 1695 E>A No TOPMed
gnomAD
rs1560316858 1695 E>K No Ensembl
rs1196252569 1697 E>D No gnomAD
rs369223108 1700 E>D No ESP
ExAC
gnomAD
rs1420075428 1700 E>G No gnomAD
rs1576208222 1701 A>V No Ensembl
rs1403454236 1702 T>I No TOPMed
gnomAD
rs2082480652 1703 E>Q No TOPMed
gnomAD
rs2082481404
COSM3357628
1704 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs891088990 1704 R>K No TOPMed
gnomAD
rs1435075475 1705 I>V No gnomAD
rs757349603 1706 N>S No ExAC
gnomAD
TCGA novel 1707 L>S Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs751582439 1708 F>L No ExAC
gnomAD
rs1409476513 1709 Y>C No TOPMed
gnomAD
rs377115294
COSM1036040
1709 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs778917137 1710 T>I No ExAC
TOPMed
gnomAD
rs1265973860 1711 Q>K No TOPMed
gnomAD
rs1217910012 1711 Q>R No gnomAD
rs777701757 1712 N>D No ExAC
gnomAD
rs754992429 1712 N>S No ExAC
gnomAD
rs2082441848 1713 T>A No Ensembl
rs749153098 1714 S>G No ExAC
gnomAD
rs1219203790 1714 S>N No TOPMed
gnomAD
rs755997920 1715 L>F No ExAC
TOPMed
gnomAD
COSM3584949 1716 L>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1402567456 1717 S>I No gnomAD
rs2082441653 1718 Q>* No TOPMed
TCGA novel 1718 Q>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs756953705 1718 Q>H No ExAC
gnomAD
rs566783911 1718 Q>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs566783911 1718 Q>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs1402586815 1719 K>R No TOPMed
gnomAD
COSM1417612
rs891088990
1724 A>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
COSM6095829
rs891088990
1724 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1472787731 1724 A>V No gnomAD
rs199685285 1725 D>H No ESP
ExAC
TOPMed
gnomAD
rs1190129868 1726 V>I No gnomAD
rs763478257 1727 A>S No ExAC
TOPMed
gnomAD
TCGA novel
rs56118396
1728 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000954610
rs56118396
1728 R>Q No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs762484892 1728 R>W No ExAC
TOPMed
gnomAD
rs1488242419 1729 M>V No TOPMed
rs1456140961 1730 Q>* No gnomAD
rs765715704 1730 Q>R No ExAC
TOPMed
gnomAD
rs1271456362 1731 K>E No TOPMed
gnomAD
rs1560311882 1731 K>R No gnomAD
rs2082441096 1732 E>K No TOPMed
gnomAD
rs1355641609 1733 A>G No gnomAD
rs748625019 1733 A>T No TOPMed
gnomAD
rs1355641609 1733 A>V No gnomAD
rs2082440988 1734 E>D No TOPMed
rs1023483846 1734 E>Q No Ensembl
rs914390358 1735 E>Q No Ensembl
rs759899590 1736 V>M No ExAC
TOPMed
gnomAD
rs539212121 1738 Q>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs1308209819 1739 E>Q No gnomAD
COSM289728 1740 C>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2082440805 1740 C>S No gnomAD
rs1444895313 1743 A>T No TOPMed
gnomAD
TCGA novel 1744 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs377291770 1745 E>K No Ensembl
rs771201540 1748 K>E No ExAC
TOPMed
gnomAD
rs570321819 1750 A>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs570321819 1750 A>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs773384843 1752 I>F No ExAC
TOPMed
gnomAD
TCGA novel
rs2082441096
1752 I>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs372356011 1752 I>T No ESP
ExAC
TOPMed
gnomAD
rs773384843 1752 I>V No ExAC
TOPMed
gnomAD
rs2082425470 1754 A>E No gnomAD
COSM445262 1754 A>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs745764881 1754 A>T No ExAC
gnomAD
rs1012454161 1756 N>I No gnomAD
rs1450211542 1760 E>K No TOPMed
rs1313233236 1762 K>E No TOPMed
rs770871970 1763 K>R No ExAC
gnomAD
rs770871970 1763 K>T No ExAC
gnomAD
TCGA novel 1764 K>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs376429464 1764 K>Q No ExAC
TOPMed
gnomAD
rs2082425227 1766 D>A No Ensembl
rs2082425197 1767 T>I No Ensembl
rs2082425168 1768 I>V No TOPMed
rs758063978 1769 A>S No ExAC
gnomAD
rs758063978 1769 A>T No ExAC
gnomAD
rs1388584907 1770 H>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
COSM4893256 1770 H>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs778372674 1770 H>Y No ExAC
TOPMed
gnomAD
rs758293096 1771 L>V No ExAC
gnomAD
rs139977838 1773 R>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs553524264 1775 R>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs760962927 1777 N>H No ExAC
TOPMed
gnomAD
rs767687880 1778 M>T No ExAC
gnomAD
rs144095279 1778 M>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
TCGA novel 1779 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2107536122 1780 Q>H No Ensembl
rs1001246772 1780 Q>K No TOPMed
gnomAD
rs1480479864 1780 Q>R No TOPMed
gnomAD
rs1484867151 1781 T>A No TOPMed
gnomAD
rs376222726 1781 T>K No ESP
ExAC
gnomAD
rs2082424723 1782 I>V No TOPMed
gnomAD
rs2082424694 1783 T>I No TOPMed
gnomAD
rs2082424604 1786 Q>E No Ensembl
rs1489205410 1786 Q>H No gnomAD
rs1191442855 1786 Q>R No TOPMed
gnomAD
rs1160215544 1787 K>Q No TOPMed
gnomAD
rs2082424450 1788 R>S No TOPMed
rs752209256
COSM6095830
1789 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1475571835 1789 L>V No TOPMed
gnomAD
rs774608324 1792 A>G No ExAC
TOPMed
gnomAD
rs1166805441 1792 A>P No TOPMed
gnomAD
TCGA novel
rs2107536142
1793 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1436483207 1794 Q>H No TOPMed
gnomAD
TCGA novel
rs2082424317
1795 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
TCGA novel 1795 M>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM460961 1796 A>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs746844591 1798 M>V No ExAC
TOPMed
gnomAD
rs2082424173 1799 G>E No TOPMed
rs777612139 1799 G>R No ExAC
TOPMed
gnomAD
rs1284039673 1802 K>Q No gnomAD
rs1446277621 1803 Q>K No gnomAD
rs2082424064 1807 L>Q No TOPMed
rs200687966 1807 L>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs747807566 1809 S>T No ExAC
TOPMed
gnomAD
rs778499172 1810 R>S No ExAC
TOPMed
gnomAD
COSM3584946 1810 R>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1370216187 1811 V>D No TOPMed
gnomAD
rs757653082 1812 R>G No ExAC
TOPMed
gnomAD
rs751904357 1812 R>H No ExAC
TOPMed
gnomAD
rs143417195 1813 E>* No 1000Genomes
ExAC
TOPMed
gnomAD
rs143417195 1813 E>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs752875083 1816 G>S No ExAC
TOPMed
gnomAD
rs763076926 1816 G>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
COSM4893372
rs2107536069
1818 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2082404701 1819 E>D No TOPMed
gnomAD
rs1309085513 1819 E>Q No TOPMed
rs759496300 1823 R>H No ExAC
TOPMed
gnomAD
rs186001749 1824 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs767302033 1824 R>L No ExAC
TOPMed
gnomAD
rs540997456 1825 S>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs540997456 1825 S>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs1378191227 1825 S>T No TOPMed
gnomAD
rs2082403628 1827 E>G No TOPMed
rs1161579210 1827 E>K No gnomAD
rs1161579210 1827 E>Q No gnomAD
TCGA novel 1829 Q>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs768359376 1830 R>K No ExAC
gnomAD
COSM445261
rs757653082
1832 A>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM727421 1832 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1832 A>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1266807318 1832 A>P No TOPMed
gnomAD
rs372963200 1833 R>C No ESP
ExAC
TOPMed
gnomAD
rs372963200
COSM5708413
1833 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
NCI-TCGA Cosmic
rs201084859 1833 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201084859 1833 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375021950 1834 R>K No ESP
ExAC
TOPMed
gnomAD
RCV000889553
rs61745216
1835 L>F No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1317116761 1836 E>G No gnomAD
rs1240796703 1836 E>K No TOPMed
gnomAD
rs545685374 1837 R>* No 1000Genomes
ExAC
TOPMed
gnomAD
rs956633840 1838 C>S No TOPMed
gnomAD
rs752999805 1839 I>V No ExAC
gnomAD
rs1576202316 1840 K>* No Ensembl
rs2082404680
COSM3584945
1840 K>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1576202316 1840 K>E No Ensembl
rs1367227451 1840 K>T No TOPMed
gnomAD
rs765329028
COSM222001
1843 T>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
COSM1417611
rs767302033
1844 Y>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs756008161 1845 Q>* No TOPMed
rs896106956 1845 Q>H No TOPMed
gnomAD
rs755102483 1845 Q>R No ExAC
TOPMed
gnomAD
rs1462351503 1846 A>V No TOPMed
gnomAD
COSM6095831 1847 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1483014754 1849 D>G No TOPMed
gnomAD
rs1263272406 1849 D>H No TOPMed
gnomAD
rs1263272406 1849 D>Y No TOPMed
gnomAD
rs2082369159 1850 K>M No TOPMed
rs2082369144 1851 K>Q No TOPMed
gnomAD
rs755153026 1852 N>S No ExAC
TOPMed
COSM3584943
rs1266807318
1852 N>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1189524287 1852 N>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs779979246 1853 L>Q No ExAC
gnomAD
rs754012561 1853 L>V No ExAC
gnomAD
rs1560302306 1856 M>I No Ensembl
rs973798055 1856 M>L No TOPMed
gnomAD
rs1261432997 1856 M>T No gnomAD
rs374175389 1857 Q>H No ESP
ExAC
gnomAD
rs1170561820 1857 Q>K No TOPMed
rs576556260 1857 Q>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
gnomAD
rs751516410 1858 T>A No ExAC
gnomAD
rs1286990597 1859 Q>E No Ensembl
rs1422195993 1860 M>I No TOPMed
gnomAD
rs763959028 1860 M>K No ExAC
gnomAD
rs1002120484 1860 M>L No gnomAD
rs1002120484 1860 M>V No gnomAD
rs2082368657 1861 D>G No TOPMed
rs2082368690 1861 D>H No gnomAD
COSM1327130 1863 L>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM4847493 1865 L>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1576199706 1866 K>Q No Ensembl
rs762738180 1867 V>M No ExAC
gnomAD
rs752428375 1868 Q>* No ExAC
TOPMed
gnomAD
rs1169023362 1868 Q>H No TOPMed
gnomAD
rs771645089 1871 K>Q No ExAC
TOPMed
gnomAD
TCGA novel 1871 K>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1367125059 1871 K>N No TOPMed
gnomAD
rs2082368389 1872 Q>* No gnomAD
rs759088952 1872 Q>H No ExAC
gnomAD
rs1265430678 1872 Q>P No gnomAD
rs2082368251 1873 Q>E No TOPMed
rs1265376001 1874 V>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs370570528 1875 E>K No ESP
ExAC
TOPMed
gnomAD
rs370570528 1875 E>Q No ESP
ExAC
TOPMed
gnomAD
rs773872034 1876 V>E No ExAC
gnomAD
rs773872034 1876 V>G No ExAC
gnomAD
rs772642933 1877 A>S No ExAC
gnomAD
rs747814109 1877 A>V No ExAC
TOPMed
gnomAD
rs770049114 1878 E>* No ExAC
rs1553761684 1878 E>G No Ensembl
TCGA novel 1879 T>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs746058501 1879 T>K No ExAC
gnomAD
rs78006088 1880 Q>* No ExAC
gnomAD
rs78006088 1880 Q>K No ExAC
gnomAD
rs747054348 1880 Q>R No ExAC
rs768636537 1881 A>P No ExAC
gnomAD
rs768636537 1881 A>S No ExAC
gnomAD
rs768636537 1881 A>T No ExAC
gnomAD
rs749155812 1881 A>V No ExAC
rs2082360183 1882 N>K No Ensembl
rs1576198819 1882 N>S No TOPMed
rs779976121 1883 Q>K No ExAC
rs2082360104 1886 S>C No gnomAD
rs1398652270 1887 K>R No gnomAD
rs1459499591 1888 Y>H No gnomAD
rs369307732 1892 Q>* No ESP
ExAC
TOPMed
gnomAD
rs1477417578 1892 Q>P No gnomAD
rs1479201910 1893 H>R No TOPMed
rs2082359856 1895 L>F No Ensembl
rs1426531776 1897 E>* No gnomAD
rs201882141 1897 E>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs1201545211 1897 E>G No TOPMed
gnomAD
COSM3914472
rs770049114
1898 V>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
rs2082359792 1899 K>T No TOPMed
rs1016823703 1900 E>D No TOPMed
rs2082359753 1900 E>K No TOPMed
rs780834351 1901 R>G No ExAC
gnomAD
rs2107530959 1902 A>E No Ensembl
COSM1308358 1903 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs559813965 1903 E>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs756722476 1903 E>Q No ExAC
TOPMed
gnomAD
rs2082359580 1905 A>S No Ensembl
TCGA novel 1907 S>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1321534000 1908 Q>R No gnomAD
rs764564051 1909 V>I No ExAC
gnomAD
rs764564051 1909 V>L No ExAC
gnomAD
TCGA novel 1909 V>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs199682590 1910 N>S No ExAC
TOPMed
gnomAD
rs1400821039 1913 K>E No TOPMed
gnomAD
rs765620642 1916 A>V No ExAC
TOPMed
gnomAD
rs1413516994 1918 E>K No gnomAD
rs1438540435 1918 E>V No TOPMed
TCGA novel 1919 F>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs759844449 1920 G>R No ExAC
TOPMed
gnomAD
rs1422819017 1922 K>N No gnomAD
rs201226192
RCV000881219
1923 V>F No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs201226192 1923 V>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372854885 1925 E>K No ESP
TOPMed
gnomAD
rs757283771 1925 E>S No ExAC
TOPMed
gnomAD
TCGA novel 1926 E>D Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs757862284 1926 E>K No ExAC
rs1560298435 1927 E>Q No Ensembl
rs2082343547 1927 E>W No Ensembl

No associated diseases with Q9Y2K3

3 regional properties for Q9Y2K3

Type Name Position InterPro Accession
domain Myosin head, motor domain 77 - 771 IPR001609
domain Myosin tail 839 - 1915 IPR002928
domain Myosin, N-terminal, SH3-like 29 - 79 IPR004009

Functions

Description
EC Number
Subcellular Localization
  • Cytoplasm, myofibril
  • Thick filaments of the myofibrils
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

6 GO annotations of cellular component

Name Definition
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
intracellular membrane-bounded organelle Organized structure of distinctive morphology and function, bounded by a single or double lipid bilayer membrane and occurring within the cell. Includes the nucleus, mitochondria, plastids, vacuoles, and vesicles. Excludes the plasma membrane.
myofibril The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism.
myosin filament A supramolecular fiber containing myosin heavy chains, plus associated light chains and other proteins, in which the myosin heavy chains are arranged into a filament.
myosin II complex A myosin complex containing two class II myosin heavy chains, two myosin essential light chains and two myosin regulatory light chains. Also known as classical myosin or conventional myosin, the myosin II class includes the major muscle myosin of vertebrate and invertebrate muscle, and is characterized by alpha-helical coiled coil tails that self assemble to form a variety of filament structures.

4 GO annotations of molecular function

Name Definition
actin filament binding Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits.
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
calmodulin binding Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states.
microfilament motor activity A motor activity that generates movement along a microfilament, driven by ATP hydrolysis.

No GO annotations of biological process

Name Definition
No GO annotations for biological process

46 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q9BE40 MYH1 Myosin-1 Bos taurus (Bovine) SS
Q9BE41 MYH2 Myosin-2 Bos taurus (Bovine) SS
Q27991 MYH10 Myosin-10 Bos taurus (Bovine) SS
Q9BE39 MYH7 Myosin-7 Bos taurus (Bovine) SS
P10587 MYH11 Myosin-11 Gallus gallus (Chicken) SS
P14105 MYH9 Myosin-9 Gallus gallus (Chicken) SS
P02565 MYH1B Myosin-1B Gallus gallus (Chicken) SS
P13538 Myosin heavy chain, skeletal muscle, adult Gallus gallus (Chicken) SS
Q99323 zip Myosin heavy chain, non-muscle Drosophila melanogaster (Fruit fly) SS
P05661 Mhc Myosin heavy chain, muscle Drosophila melanogaster (Fruit fly) SS
A7E2Y1 MYH7B Myosin-7B Homo sapiens (Human) SS
P11055 MYH3 Myosin-3 Homo sapiens (Human) SS
P12882 MYH1 Myosin-1 Homo sapiens (Human) SS
P12883 MYH7 Myosin-7 Homo sapiens (Human) EV
P13533 MYH6 Myosin-6 Homo sapiens (Human) SS
P13535 MYH8 Myosin-8 Homo sapiens (Human) SS
Q9UKX3 MYH13 Myosin-13 Homo sapiens (Human) SS
Q9Y623 MYH4 Myosin-4 Homo sapiens (Human) SS
Q9UKX2 MYH2 Myosin-2 Homo sapiens (Human) SS
P35580 MYH10 Myosin-10 Homo sapiens (Human) SS
P35749 MYH11 Myosin-11 Homo sapiens (Human) SS
P35579 MYH9 Myosin-9 Homo sapiens (Human) SS
Q7Z406 MYH14 Myosin-14 Homo sapiens (Human) SS
Q8VDD5 Myh9 Myosin-9 Mus musculus (Mouse) SS
Q5SX39 Myh4 Myosin-4 Mus musculus (Mouse) SS
P13542 Myh8 Myosin-8 Mus musculus (Mouse) SS
Q02566 Myh6 Myosin-6 Mus musculus (Mouse) SS
O08638 Myh11 Myosin-11 Mus musculus (Mouse) SS
A2AQP0 Myh7b Myosin-7B Mus musculus (Mouse) SS
Q61879 Myh10 Myosin-10 Mus musculus (Mouse) SS
Q91Z83 Myh7 Myosin-7 Mus musculus (Mouse) SS
Q6URW6 Myh14 Myosin-14 Mus musculus (Mouse) SS
P13541 Myh3 Myosin-3 Mus musculus (Mouse) SS
Q5SX40 Myh1 Myosin-1 Mus musculus (Mouse) SS
P79293 MYH7 Myosin-7 Sus scrofa (Pig) SS
Q9TV63 MYH2 Myosin-2 Sus scrofa (Pig) SS
P12847 Myh3 Myosin-3 Rattus norvegicus (Rat) SS
P02563 Myh6 Myosin-6 Rattus norvegicus (Rat) SS
P02564 Myh7 Myosin-7 Rattus norvegicus (Rat) SS
Q62812 Myh9 Myosin-9 Rattus norvegicus (Rat) SS
Q29RW1 Myh4 Myosin-4 Rattus norvegicus (Rat) SS
Q9JLT0 Myh10 Myosin-10 Rattus norvegicus (Rat) SS
P02566 unc-54 Myosin-4 Caenorhabditis elegans SS
P02567 myo-1 Myosin-1 Caenorhabditis elegans SS
P12844 myo-3 Myosin-3 Caenorhabditis elegans SS
P12845 myo-2 Myosin-2 Caenorhabditis elegans SS
10 20 30 40 50 60
MDLSDLGEAA AFLRRSEAEL LLLQATALDG KKKCWIPDGE NAYIEAEVKG SEDDGTVIVE
70 80 90 100 110 120
TADGESLSIK EDKIQQMNPP EFEMIEDMAM LTHLNEASVL HTLKRRYGQW MIYTYSGLFC
130 140 150 160 170 180
VTINPYKWLP VYQKEVMAAY KGKRRSEAPP HIFAVANNAF QDMLHNRENQ SILFTGESGA
190 200 210 220 230 240
GKTVNSKHII QYFATIAAMI ESRKKQGALE DQIMQANTIL EAFGNAKTLR NDNSSRFGKF
250 260 270 280 290 300
IRMHFGARGM LSSVDIDIYL LEKSRVIFQQ AGERNYHIFY QILSGQKELH DLLLVSANPS
310 320 330 340 350 360
DFHFCSCGAV TVESLDDAEE LLATEQAMDI LGFLPDEKYG CYKLTGAIMH FGNMKFKQKP
370 380 390 400 410 420
REEQLEADGT ENADKAAFLM GINSSELVKC LIHPRIKVGN EYVTRGQTIE QVTCAVGALS
430 440 450 460 470 480
KSMYERMFKW LVARINRALD AKLSRQFFIG ILDITGFEIL EYNSLEQLCI NFTNEKLQQF
490 500 510 520 530 540
FNWHMFVLEQ EEYKKESIEW VSIGFGLDLQ ACIDLIEKPM GILSILEEEC MFPKATDLTF
550 560 570 580 590 600
KTKLFDNHFG KSVHLQKPKP DKKKFEAHFE LVHYAGVVPY NISGWLEKNK DLLNETVVAV
610 620 630 640 650 660
FQKSSNRLLA SLFENYMSTD SAIPFGEKKR KKGASFQTVA SLHKENLNKL MTNLKSTAPH
670 680 690 700 710 720
FVRCINPNVN KIPGILDPYL VLQQLRCNGV LEGTRICREG FPNRLQYADF KQRYCILNPR
730 740 750 760 770 780
TFPKSKFVSS RKAAEELLGS LEIDHTQYRF GITKVFFKAG FLGQLEAIRD ERLSKVFTLF
790 800 810 820 830 840
QARAQGKLMR IKFQKILEER DALILIQWNI RAFMAVKNWP WMRLFFKIKP LVKSSEVGEE
850 860 870 880 890 900
VAGLKEECAQ LQKALEKSEF QREELKAKQV SLTQEKNDLI LQLQAEQETL ANVEEQCEWL
910 920 930 940 950 960
IKSKIQLEAR VKELSERVEE EEEINSELTA RGRKLEDECF ELKKEIDDLE TMLVKSEKEK
970 980 990 1000 1010 1020
RTTEHKVKNL TEEVEFLNED ISKLNRAAKV VQEAHQQTLD DLHMEEEKLS SLSKANLKLE
1030 1040 1050 1060 1070 1080
QQVDELEGAL EQERKARMNC ERELHKLEGN LKLNRESMEN LESSQRHLAE ELRKKELELS
1090 1100 1110 1120 1130 1140
QMNSKVENEK GLVAQLQKTV KELQTQIKDL KEKLEAERTT RAKMERERAD LTQDLADLNE
1150 1160 1170 1180 1190 1200
RLEEVGGSSL AQLEITKKQE TKFQKLHRDM EEATLHFETT SASLKKRHAD SLAELEGQVE
1210 1220 1230 1240 1250 1260
NLQQVKQKLE KDKSDLQLEV DDLLTRVEQM TRAKANAEKL CTLYEERLHE ATAKLDKVTQ
1270 1280 1290 1300 1310 1320
LANDLAAQKT KLWSESGEFL RRLEEKEALI NQLSREKSNF TRQIEDLRGQ LEKETKSQSA
1330 1340 1350 1360 1370 1380
LAHALQKAQR DCDLLREQYE EEQEVKAELH RTLSKVNAEM VQWRMKYENN VIQRTEDLED
1390 1400 1410 1420 1430 1440
AKKELAIRLQ EAAEAMGVAN ARNASLERAR HQLQLELGDA LSDLGKVRSA AARLDQKQLQ
1450 1460 1470 1480 1490 1500
SGKALADWKQ KHEESQALLD ASQKEVQALS TELLKLKNTY EESIVGQETL RRENKNLQEE
1510 1520 1530 1540 1550 1560
ISNLTNQVRE GTKNLTEMEK VKKLIEEEKT EVQVTLEETE GALERNESKI LHFQLELLEA
1570 1580 1590 1600 1610 1620
KAELERKLSE KDEEIENFRR KQQCTIDSLQ SSLDSEAKSR IEVTRLKKKM EEDLNEMELQ
1630 1640 1650 1660 1670 1680
LSCANRQVSE ATKSLGQLQI QIKDLQMQLD DSTQLNSDLK EQVAVAERRN SLLQSELEDL
1690 1700 1710 1720 1730 1740
RSLQEQTERG RRLSEEELLE ATERINLFYT QNTSLLSQKK KLEADVARMQ KEAEEVVQEC
1750 1760 1770 1780 1790 1800
QNAEEKAKKA AIEAANLSEE LKKKQDTIAH LERTRENMEQ TITDLQKRLA EAEQMALMGS
1810 1820 1830 1840 1850 1860
RKQIQKLESR VRELEGELEG EIRRSAEAQR GARRLERCIK ELTYQAEEDK KNLSRMQTQM
1870 1880 1890 1900 1910 1920
DKLQLKVQNY KQQVEVAETQ ANQYLSKYKK QQHELNEVKE RAEVAESQVN KLKIKAREFG
KKVQEE