Descriptions

Leucine-rich repeat serine/threonine-protein kinase 1 (LRRK1) is a protein involved in the negative regulation of bone mass, acting through the maturation of osteoclasts. In contrast to the mechanism of autoinhibition that occurs in LRRK2, the autoinhibition of LRRK1 is mediated by a steric mechanism involving the ANK domain, which blocks access to the active site of the kinase domain in a dimer-dependent manner. In contrast, the interaction of the N-terminal LRR domain with the N-lobe of the kinase domain contributes to the alleviation of autoinhibition by changing its position relative to the WD40 domain, exposing the exposure of the active site of the kinase domain. The autoinhibited dimer of LRRK1 could be stabilized by a loop (1791-1907) in the WD40 domain. In addition, the kinase activity of LRRK1 is also regulated by the interaction of its COR-B loop with the kinase domain. Phosphorylation of three residues (S1064, T1074, and S1075) in the autoinhibitory COR-B loop significantly increases the kinase activity of LRRK1. Phosphorylation by Rab7a, resulting in the F1065A mutation, also alleviates the autoinhibited state of LRRK1.

Autoinhibitory domains (AIDs)

Target domain

1263-1265 (N-lobe of kinase domain)

Relief mechanism

Partner binding, Cleavage

Assay

Structural analysis, Deletion assay

Target domain

1242-1525 (Kinase domain)

Relief mechanism

PTM, Partner binding, Cleavage

Assay

Structural analysis, Deletion assay

Accessory elements

1408-1429 (Activation loop from InterPro)

Target domain

1263-1265 (N-lobe of kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

5 structures for Q38SD2

Entry ID Method Resolution Chain Position Source
8E04 EM 380 A A 20-2015 PDB
8E05 EM 460 A A/B 1-2015 PDB
8E06 EM 430 A A 1-2015 PDB
8FAC EM 392 A A 1-2015 PDB
AF-Q38SD2-F1 Predicted AlphaFoldDB

1993 variants for Q38SD2

Variant ID(s) Position Change Description Diseaes Association Provenance
RCV003365632
rs201543283
RCV001988892
4 M>V Inborn genetic diseases [ClinVar] Yes ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002155620
rs200799740
RCV003025493
102 M>I Inborn genetic diseases [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV002008010
RCV003418273
RCV003264358
rs370235958
194 V>M LRRK1-related condition Inborn genetic diseases [ClinVar] Yes ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs368091026
RCV003339906
RCV002030943
215 R>Q Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] Yes ClinVar
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV002548341
rs113989128
RCV000970015
224 I>V Inborn genetic diseases [ClinVar] Yes ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002563640
rs145072406
RCV001942187
241 I>L Inborn genetic diseases [ClinVar] Yes ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs749068051
RCV001886038
RCV002552206
287 A>G Inborn genetic diseases [ClinVar] Yes ClinVar
ExAC
dbSNP
gnomAD
RCV002561542
rs372555242
RCV001974714
375 N>S Inborn genetic diseases [ClinVar] Yes ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs199792081
RCV002556437
RCV001923485
586 E>D Inborn genetic diseases [ClinVar] Yes ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001906414
rs150261606
RCV003264222
703 P>L Inborn genetic diseases [ClinVar] Yes ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV002573552
COSM4053477
RCV002025042
COSM4053475
rs377308921
773 T>M Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] Yes NCI-TCGA Cosmic
ClinVar
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
RCV002561498
RCV001946388
rs202077818
829 V>M Inborn genetic diseases [ClinVar] Yes ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs766875506
CA393966307
RCV000625749
929 E>* Osteosclerotic metaphyseal dysplasia [ClinVar] Yes ClinGen
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
VAR_086690 929 E>del OSMD [UniProt] Yes UniProt
RCV002551070
rs185373027
RCV001870773
940 S>C Inborn genetic diseases [ClinVar] Yes ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV001887773
rs368618286
RCV002547910
1006 M>V Inborn genetic diseases [ClinVar] Yes ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV001925922
rs751191439
RCV003264250
1200 R>Q Inborn genetic diseases [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs564175632
RCV003170195
RCV001968161
1202 F>Y Inborn genetic diseases [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1258583719
RCV002227891
1494 R>* Variant assessed as Somatic; HIGH impact. Osteosclerotic metaphyseal dysplasia [NCI-TCGA, ClinVar] Yes ClinVar
NCI-TCGA
dbSNP
gnomAD
rs770946839
RCV002551626
RCV001877071
1760 S>F Inborn genetic diseases [ClinVar] Yes ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV002489349
RCV000960070
rs34876840
1796 P>H Osteosclerotic metaphyseal dysplasia [ClinVar] Yes ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002561510
RCV001955173
rs1301904566
1934 E>D Inborn genetic diseases [ClinVar] Yes ClinVar
TOPMed
dbSNP
gnomAD
rs370701948
RCV002552935
RCV001871480
1945 I>T Inborn genetic diseases [ClinVar] Yes ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs886038213
CA10586702
RCV001795385
1980 E>missing Osteosclerotic metaphyseal dysplasia [ClinVar] Yes ClinGen
ClinVar
dbSNP
RCV001794939
rs2141168796
1991 A>missing Osteosclerotic metaphyseal dysplasia [ClinVar] Yes ClinVar
dbSNP
rs781273894 2 A>T No ExAC
TOPMed
gnomAD
rs779491648 4 M>I No ExAC
gnomAD
rs201543283 4 M>L No ESP
ExAC
TOPMed
gnomAD
rs1191189390 4 M>T No TOPMed
RCV002041255
rs748591648
5 S>L No ClinVar
ExAC
dbSNP
gnomAD
rs772698984 6 Q>* No ExAC
gnomAD
rs1596149153 7 R>S No Ensembl
rs201657615 8 P>L No ExAC
TOPMed
gnomAD
rs373263143 8 P>S No ESP
TOPMed
gnomAD
rs950488806 9 P>L No TOPMed
gnomAD
rs950488806 9 P>R No TOPMed
gnomAD
rs1438369630 10 S>G No TOPMed
gnomAD
rs1422179063 10 S>Q Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1186222914 10 S>R No gnomAD
rs1429951456 11 M>R No TOPMed
gnomAD
rs1429951456 11 M>T No TOPMed
gnomAD
rs1366267504 11 M>V No TOPMed
gnomAD
rs2042077612 12 Y>C No gnomAD
rs759385351 13 W>* No ExAC
TOPMed
gnomAD
rs776094214 13 W>L No ExAC
gnomAD
rs1228726751 14 C>* No TOPMed
gnomAD
RCV001938098
rs982310051
14 C>S No ClinVar
TOPMed
dbSNP
gnomAD
TCGA novel 14 C>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs866662547 14 C>Y No Ensembl
rs1304274213 15 V>L No TOPMed
rs1389883248 16 G>V No gnomAD
rs180759486 17 P>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM3420175
rs1397828747
18 E>D Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
gnomAD
rs1357600166 19 E>A No TOPMed
gnomAD
rs1396018485 19 E>K No gnomAD
rs2042078545 21 A>V No TOPMed
rs1410381418 22 V>G No TOPMed
rs2042078587 22 V>M No TOPMed
rs2042078672 23 C>Y No TOPMed
rs1342350922 25 E>Q No gnomAD
rs767752687 26 R>C No ExAC
TOPMed
gnomAD
rs756110175 26 R>H No ExAC
TOPMed
gnomAD
rs767752687 26 R>S No ExAC
TOPMed
gnomAD
rs753949506 27 A>T No ExAC
TOPMed
gnomAD
rs755378549 30 T>M No ExAC
TOPMed
gnomAD
rs755378549 30 T>R No ExAC
TOPMed
gnomAD
rs376424624 31 L>P No ESP
ExAC
TOPMed
gnomAD
rs376424624 31 L>R No ESP
ExAC
TOPMed
gnomAD
rs2042079260 32 N>D No gnomAD
rs1596149347 32 N>S No Ensembl
rs2141653359 33 G>A No Ensembl
rs778209303 33 G>S No ExAC
TOPMed
gnomAD
rs1054254534 34 A>V No TOPMed
rs1011877404 35 G>A No TOPMed
gnomAD
rs1011877404 35 G>E No TOPMed
gnomAD
rs1442417412 36 D>Y No gnomAD
rs1018256609 37 T>M No TOPMed
gnomAD
rs1377840329 38 G>D No TOPMed
gnomAD
rs1377840329 38 G>V No TOPMed
gnomAD
rs1386565028 39 G>C No TOPMed
gnomAD
rs1455503071 39 G>D No gnomAD
rs1386565028 39 G>R No TOPMed
gnomAD
rs1386565028 39 G>S No TOPMed
gnomAD
rs753089141 41 P>L No ExAC
TOPMed
gnomAD
rs753089141 41 P>Q No ExAC
TOPMed
gnomAD
rs1296797976 41 P>S No TOPMed
rs1346090652 42 S>F No TOPMed
rs2031116479 44 R>P No TOPMed
TCGA novel
rs2031116479
44 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1385978407 45 G>V No gnomAD
rs2031118023 46 G>D No TOPMed
rs2031117780 46 G>S No TOPMed
gnomAD
rs998158742 47 D>N No TOPMed
rs2031118961 48 P>L No TOPMed
rs777607829 48 P>S No ExAC
TOPMed
gnomAD
rs777607829 48 P>T No ExAC
TOPMed
gnomAD
rs954117551 49 A>P No TOPMed
gnomAD
rs954117551 49 A>S No TOPMed
gnomAD
rs954117551 49 A>T No TOPMed
gnomAD
rs1007479203 50 A>E No TOPMed
gnomAD
rs1007479203 50 A>V No TOPMed
gnomAD
rs2031119712 51 R>L No TOPMed
rs1360870166 52 S>A No TOPMed
gnomAD
rs1293448832 52 S>C No TOPMed
gnomAD
rs1314649839 53 R>H No TOPMed
gnomAD
rs756857060 54 R>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs564533545
RCV001971862
54 R>W No ClinVar
1000Genomes
TOPMed
dbSNP
gnomAD
rs2031122033 55 T>M No gnomAD
rs2031122479 57 G>A No TOPMed
TCGA novel 57 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs941012164 59 R>C No TOPMed
gnomAD
RCV001981813
rs780551753
59 R>H No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs2031123612 61 A>S No TOPMed
gnomAD
rs1350030008 61 A>V No gnomAD
rs918823575 62 Y>C No TOPMed
gnomAD
rs918823575 62 Y>F No TOPMed
gnomAD
rs915826670
RCV001910187
63 R>K No ClinVar
TOPMed
dbSNP
gnomAD
rs915826670 63 R>T No TOPMed
gnomAD
rs2031124641 64 R>G No Ensembl
rs948639431
RCV001900062
64 R>L No ClinVar
TOPMed
dbSNP
rs948639431 64 R>P No TOPMed
rs1189245756 65 G>E No TOPMed
gnomAD
rs2031125255 65 G>R No TOPMed
rs1281309106 66 D>E No TOPMed
gnomAD
rs1481018763 66 D>N No TOPMed
gnomAD
rs1481018763 66 D>Y No TOPMed
gnomAD
RCV002076432
rs528714330
67 R>C No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs528714330 67 R>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs2031126507 67 R>H No Ensembl
rs1054604781 68 G>A No TOPMed
RCV001985236
rs56289455
68 G>C No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
RCV002125034
rs56289455
68 G>S No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs2031127555 69 G>S No Ensembl
rs914448297 70 A>S No TOPMed
gnomAD
rs914448297 70 A>T No TOPMed
gnomAD
rs934768991 71 R>G No TOPMed
gnomAD
rs1326828605 71 R>P No TOPMed
rs934768991 71 R>W No TOPMed
gnomAD
rs1443319958 72 D>E No TOPMed
gnomAD
rs2141653682 75 E>Q No Ensembl
rs2031130166 76 E>A No TOPMed
rs945844784 76 E>D No TOPMed
rs1053194090 76 E>K No TOPMed
RCV001981333
rs893166977
77 A>G No ClinVar
TOPMed
dbSNP
gnomAD
rs768515004 77 A>T No ExAC
TOPMed
gnomAD
rs893166977 77 A>V No TOPMed
gnomAD
RCV001864924
rs1249255322
79 D>G No ClinVar
TOPMed
dbSNP
gnomAD
rs1456154770 79 D>N No TOPMed
gnomAD
rs1456154770 79 D>Y No TOPMed
gnomAD
rs562434357 80 Q>* No 1000Genomes
TOPMed
gnomAD
rs562434357 80 Q>E No 1000Genomes
TOPMed
gnomAD
rs562434357 80 Q>K No 1000Genomes
TOPMed
gnomAD
rs1340750957 81 C>Y No TOPMed
gnomAD
rs761654387 84 Q>P No ExAC
TOPMed
gnomAD
rs796076773 85 L>M No TOPMed
gnomAD
rs997739606 86 E>K No gnomAD
RCV001971132
rs28468535
87 K>E No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs758349602 87 K>T No Ensembl
rs755637633 88 G>S No ExAC
gnomAD
RCV001997059
rs779865899
90 L>P No ClinVar
ExAC
dbSNP
gnomAD
rs779865899 90 L>R No ExAC
gnomAD
rs2031713947 90 L>V No gnomAD
rs370948444 94 P>L No ESP
ExAC
TOPMed
gnomAD
rs202037702 94 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
rs901489770 95 A>T No TOPMed
gnomAD
rs377500835 96 A>D No ESP
ExAC
TOPMed
gnomAD
rs377500835 96 A>G No ESP
ExAC
TOPMed
gnomAD
rs773149239 97 Y>C No ExAC
TOPMed
gnomAD
rs1309717731 97 Y>H No gnomAD
rs2031715971 100 L>P No TOPMed
rs1460054859 101 E>D No TOPMed
gnomAD
rs775753659
RCV002040397
104 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs775753659 104 R>G No ExAC
TOPMed
gnomAD
rs1427176646 104 R>H No TOPMed
gnomAD
TCGA novel
rs1427176646
104 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1449166266 105 Y>* No gnomAD
rs1596234842 105 Y>S No Ensembl
rs1567214660 106 L>V No Ensembl
rs1187686666 107 L>F No gnomAD
rs202052348
RCV002021726
108 S>N No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs575177605 110 R>K No 1000Genomes
ExAC
gnomAD
rs774548299 110 R>S No ExAC
TOPMed
gnomAD
rs2031718367 112 V>M No TOPMed
rs2031718507 114 L>V No TOPMed
rs2031718645 115 P>S No Ensembl
rs951902777 116 T>I No gnomAD
rs1467463832 116 T>P No Ensembl
rs2031719556 117 E>K No Ensembl
rs750884820 119 T>M No ExAC
rs1383049081 120 D>E No gnomAD
rs1185218356 121 D>A No TOPMed
rs1433919455 121 D>H No gnomAD
rs1433919455 121 D>N No gnomAD
rs1364561496 122 N>D No gnomAD
rs1364561496 122 N>H No gnomAD
rs1215618264 122 N>I No gnomAD
rs1215618264 122 N>S No gnomAD
rs1215618264 122 N>T No gnomAD
rs753606461 125 V>L No ExAC
TOPMed
gnomAD
rs753606461
RCV001872926
125 V>M No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs754657738 128 A>E No ExAC
TOPMed
gnomAD
TCGA novel 128 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs754657738
COSM5848860
COSM5848858
128 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs776974790 129 Y>C No ExAC
TOPMed
gnomAD
rs758151687 130 F>L No ExAC
gnomAD
rs200045067 133 T>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2031723466 136 V>L No TOPMed
rs201198678 137 Q>R No ExAC
TOPMed
gnomAD
rs2031723958 138 E>K No TOPMed
gnomAD
COSM3815663
COSM4923959
rs775524685
COSM4923961
COSM3815665
139 L>F Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs374355989 140 L>V No ESP
ExAC
TOPMed
gnomAD
COSM3886696
COSM3886694
142 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1260718403 146 P>L No TOPMed
gnomAD
rs762328731 146 P>S No ExAC
gnomAD
rs763758358 147 C>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs536752090 148 S>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs536752090 148 S>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs1261409516 148 S>R No gnomAD
rs1436826237 149 P>L No TOPMed
COSM5277250
COSM5277252
151 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs756058323 151 R>Q No ExAC
TOPMed
gnomAD
COSM3386775
COSM3386777
rs552211004
151 R>W Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1400336345 153 L>R No TOPMed
gnomAD
rs1174295697 154 N>I No gnomAD
rs1412103908 157 L>Q No TOPMed
gnomAD
rs2141669802
RCV001887459
159 L>F No ClinVar
Ensembl
dbSNP
rs752855869 163 R>* No ExAC
TOPMed
gnomAD
RCV001889550
rs200548454
163 R>Q No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs778159326 164 G>V No ExAC
gnomAD
COSM4053457
COSM4053455
168 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1457392995 168 V>F No TOPMed
rs1457392995 168 V>I No TOPMed
rs2032002385 169 V>L No TOPMed
rs1032895584 171 L>F No TOPMed
gnomAD
rs1032895584 171 L>I No TOPMed
gnomAD
rs202112893
COSM199319
175 T>M large_intestine [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2032003446 176 H>R No gnomAD
rs1207247731 177 G>E No gnomAD
rs1484726939 177 G>R No TOPMed
gnomAD
TCGA novel 178 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs554667646 180 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs767351188 181 E>A No ExAC
gnomAD
rs761442314 181 E>Q No ExAC
TOPMed
gnomAD
rs773030697 182 S>R No ExAC
gnomAD
rs757738305 183 Y>C No ExAC
gnomAD
rs753664394
COSM959603
184 A>T Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs919254235 185 V>F No gnomAD
rs1404204859 185 V>G No gnomAD
rs919254235 185 V>L No gnomAD
rs751875924 186 R>G No ExAC
gnomAD
rs757519760 186 R>S No ExAC
gnomAD
rs1357929316 187 K>R No TOPMed
gnomAD
rs2032006656 189 E>A No TOPMed
rs930941488 189 E>D No TOPMed
gnomAD
rs746264958 189 E>Q No ExAC
TOPMed
gnomAD
rs1596241797 190 F>Y No Ensembl
rs756374275 193 I>N No ExAC
gnomAD
rs370235958 194 V>L No ESP
ExAC
TOPMed
gnomAD
rs201889926
COSM959605
COSM2200425
195 R>C Variant assessed as Somatic; MODERATE impact. central_nervous_system endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM959607
rs773830700
195 R>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs201889926 195 R>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2032008547 198 L>V No Ensembl
rs1884063698 199 Y>* No gnomAD
rs747840699 200 A>S No ExAC
gnomAD
rs747840699 200 A>T No ExAC
gnomAD
rs771745497 200 A>V No ExAC
TOPMed
gnomAD
rs766026615 201 A>T No ExAC
gnomAD
rs1161513298 202 I>M No gnomAD
rs35985016
RCV002167046
203 K>E No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1458359895 203 K>M No gnomAD
TCGA novel 205 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs759520031 205 G>R No ExAC
gnomAD
rs769939723 206 N>H No Ensembl
rs769871825 208 D>N No ExAC
gnomAD
rs1205832502 211 I>M No gnomAD
rs2032034285 212 F>L No TOPMed
gnomAD
rs557184600 215 R>G No 1000Genomes
ExAC
gnomAD
rs368091026 215 R>L No ESP
ExAC
TOPMed
gnomAD
rs557184600 215 R>W No 1000Genomes
ExAC
gnomAD
rs1417277255 217 G>R No gnomAD
TCGA novel 217 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1596242577
TCGA novel
218 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs767489943 219 Y>S No ExAC
gnomAD
rs1428019785 221 C>S No TOPMed
gnomAD
rs1428019785 221 C>Y No TOPMed
gnomAD
rs1253523506 222 S>C No TOPMed
gnomAD
rs1398112465 222 S>P No gnomAD
rs2032036272 223 Y>C No TOPMed
rs2032036603 226 L>V No TOPMed
rs766808583 228 S>N No ExAC
gnomAD
rs1359433750 228 S>R No gnomAD
COSM4053461
COSM4053463
229 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs754234882 230 D>A No ExAC
TOPMed
gnomAD
rs754234882 230 D>G No ExAC
TOPMed
gnomAD
rs755289273 231 P>A No ExAC
gnomAD
rs2141670682 231 P>L No Ensembl
rs755289273 231 P>S No ExAC
gnomAD
rs755289273
RCV001943528
231 P>T No ClinVar
ExAC
dbSNP
gnomAD
rs1321549084 238 K>N No gnomAD
rs1282669597 238 K>R No gnomAD
rs1282669597 238 K>T No gnomAD
rs145072406 241 I>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs558815397 241 I>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs145072406 241 I>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201348332 243 A>D No ExAC
TOPMed
gnomAD
rs780846312 245 P>T No ExAC
gnomAD
rs1489194935 246 L>S No gnomAD
rs924383338 247 P>H No TOPMed
gnomAD
rs745664601 248 S>G No ExAC
gnomAD
rs1428568069 248 S>T No gnomAD
rs369239695 251 P>A No 1000Genomes
ESP
TOPMed
gnomAD
rs200690035 251 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs369239695 251 P>S No 1000Genomes
ESP
TOPMed
gnomAD
COSM3987866
COSM3987868
254 T>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1437413884 254 T>S No TOPMed
gnomAD
rs2033103774 257 R>C No TOPMed
rs1324210109 257 R>H No TOPMed
rs747061264 259 K>E No ExAC
gnomAD
rs770982171
COSM4406082
COSM4406080
261 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs776892472 262 H>Y No ExAC
TOPMed
gnomAD
rs369330842 263 L>H No ESP
ExAC
TOPMed
rs765643116 268 V>E No ExAC
gnomAD
rs763339239 269 D>A No ExAC
gnomAD
rs1439992221 269 D>E No TOPMed
gnomAD
rs2033105932 269 D>H No TOPMed
gnomAD
rs752048498 274 I>V No ExAC
TOPMed
gnomAD
rs756776320 275 D>A No ExAC
TOPMed
gnomAD
rs199863201 276 I>S No 1000Genomes
ExAC
rs1164314445 278 C>R No gnomAD
rs750140074 279 Q>H No ExAC
gnomAD
rs1408267488 280 I>V No TOPMed
gnomAD
rs1333528063 281 T>M No TOPMed
gnomAD
rs2033107521 282 E>K No gnomAD
TCGA novel 283 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs755805466 283 L>I No ExAC
TOPMed
gnomAD
rs1429167452 284 D>H No TOPMed
rs1380348674 286 S>F No gnomAD
rs779802602
RCV001881899
286 S>P No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs2141691592
RCV001970614
287 A>P No ClinVar
Ensembl
dbSNP
rs749068051 287 A>V No ExAC
gnomAD
rs754733732 288 N>K No ExAC
gnomAD
rs1046335520 291 A>E No TOPMed
gnomAD
rs2033108674 291 A>T No gnomAD
rs1046335520 291 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
TCGA novel 292 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2033109024 292 T>I No TOPMed
rs373434869 293 L>P No ESP
ExAC
TOPMed
gnomAD
rs373434869 293 L>R No ESP
ExAC
TOPMed
gnomAD
rs1259431781 293 L>V No TOPMed
gnomAD
rs1202661217 294 P>S No gnomAD
rs1398231033 296 V>A No TOPMed
gnomAD
rs1334256380 296 V>I No gnomAD
rs1188757802 298 P>L No gnomAD
COSM3499719
COSM3499717
298 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs776656740 303 N>S No ExAC
TOPMed
gnomAD
rs745902377 304 L>V No ExAC
gnomAD
rs201297016 305 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs775625158 305 R>W No ExAC
TOPMed
gnomAD
rs1404679405 306 K>N No gnomAD
rs2141691698 307 L>V No Ensembl
rs1277823709 308 N>Y No TOPMed
TCGA novel 310 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs769053443 311 D>N No ExAC
gnomAD
rs762350334 313 H>L No ExAC
TOPMed
gnomAD
rs762350334 313 H>P No ExAC
TOPMed
gnomAD
rs762350334 313 H>R No ExAC
TOPMed
gnomAD
rs1270878753 314 L>V No TOPMed
gnomAD
rs766132517 315 G>R No 1000Genomes
ExAC
gnomAD
rs574940704 316 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs574940704 316 E>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs778760210 317 L>P No ExAC
TOPMed
gnomAD
rs1405888383 318 P>L No TOPMed
rs1445730152 319 G>D No TOPMed
gnomAD
RCV002004310
rs2141691789
319 G>H No ClinVar
Ensembl
dbSNP
rs1261488928 319 G>R No TOPMed
gnomAD
rs1261488928 319 G>S No TOPMed
gnomAD
rs376445041 320 V>L No ESP
ExAC
TOPMed
gnomAD
rs376445041 320 V>M No ESP
ExAC
TOPMed
gnomAD
rs1480137858 321 Q>P No gnomAD
rs2141691813 322 S>T No Ensembl
rs769809859 323 S>* No ExAC
TOPMed
gnomAD
rs1195530604 323 S>P No Ensembl
RCV000880312
rs184008590
324 D>E No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel
rs2033115026
325 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs2033115270 327 I>F No gnomAD
rs1267255810 331 L>P No gnomAD
rs770384623 332 L>V No ExAC
TOPMed
gnomAD
rs1296621966 333 E>K No TOPMed
gnomAD
rs562018856 334 I>T No 1000Genomes
ExAC
gnomAD
rs2033176484 334 I>V No Ensembl
rs1441786750 336 I>V No gnomAD
TCGA novel 337 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1308229623 338 S>G No TOPMed
gnomAD
rs368549166
RCV001977304
338 S>R No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1162564377 340 K>N No gnomAD
rs1443887829 340 K>R No gnomAD
rs1351595378 341 L>F No TOPMed
gnomAD
rs1490853664 342 S>P No TOPMed
gnomAD
TCGA novel 344 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1447370113 344 L>V No TOPMed
rs1397593141 345 P>R No gnomAD
rs866765967 345 P>S No gnomAD
rs866765967 345 P>T No gnomAD
rs1448546235 346 P>A No gnomAD
rs1448546235 346 P>S No gnomAD
rs187360115 347 G>E No 1000Genomes
TCGA novel
rs1310385882
348 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1418693007 349 L>W No Ensembl
rs762797401 350 H>Y No ExAC
TOPMed
gnomAD
rs763873193 351 L>F No ExAC
gnomAD
rs751540811 352 S>L No ExAC
TOPMed
gnomAD
rs2033179466 354 L>V No gnomAD
rs150351407 355 Q>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs2141693546 356 K>Q No Ensembl
rs1596268585 357 L>R No Ensembl
rs767309864 358 T>R No ExAC
gnomAD
rs1459224772 359 A>T No TOPMed
gnomAD
rs1199543291 360 S>T No gnomAD
COSM2200438
COSM2200440
362 N>I Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs753981637 363 C>S No ExAC
TOPMed
gnomAD
rs1482604307 365 E>Q No Ensembl
rs779206703 366 K>Q No ExAC
gnomAD
rs1424330941 367 L>* No gnomAD
rs748365815
RCV001933945
367 L>M No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs372847198 369 E>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs372847198
RCV002130506
COSM1375687
369 E>K large_intestine [Cosmic] No cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs368813810 373 A>V No ESP
ExAC
gnomAD
rs566606745 374 T>A No 1000Genomes
ExAC
gnomAD
rs566606745 374 T>P No 1000Genomes
ExAC
gnomAD
rs566606745 374 T>S No 1000Genomes
ExAC
gnomAD
rs765224234 376 W>R No ExAC
gnomAD
rs1489302353 377 I>T No TOPMed
rs200469257
RCV001874078
378 G>A No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs200469257 378 G>D No ExAC
TOPMed
gnomAD
rs1243857037 379 L>S No TOPMed
gnomAD
rs778089814 380 R>Q No ExAC
gnomAD
rs758667510 380 R>W No ExAC
TOPMed
gnomAD
rs2033191949 382 L>V No TOPMed
gnomAD
rs2141693825
RCV001946453
384 E>* No ClinVar
Ensembl
dbSNP
rs1229067054 385 L>I No TOPMed
rs547363177 386 D>V No ExAC
gnomAD
rs1489266948 387 I>L No gnomAD
rs757510968 387 I>M No ExAC
TOPMed
gnomAD
rs1193689209 387 I>T No TOPMed
gnomAD
rs1476817125
RCV001919958
390 N>S No ClinVar
TOPMed
dbSNP
gnomAD
RCV001933952
rs371086173
391 K>I No ClinVar
ESP
ExAC
dbSNP
gnomAD
rs769386932 393 T>A No ExAC
gnomAD
rs1291141402 393 T>I No gnomAD
rs769386932 393 T>S No ExAC
gnomAD
rs2141693881 394 E>* No Ensembl
rs2033194969 395 L>P No TOPMed
rs1391841773 396 P>R No TOPMed
COSM2200453
COSM2200451
396 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs200253977 397 A>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs200253977 397 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1420851289
COSM959613
397 A>V endometrium [Cosmic] No cosmic curated
TOPMed
gnomAD
rs768329041 398 L>V No ExAC
gnomAD
rs549021266 399 F>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs761682123 400 L>V No ExAC
TOPMed
gnomAD
rs771748188 401 H>Y No ExAC
gnomAD
rs1306810748 402 S>P No TOPMed
gnomAD
rs2033196586 405 S>A No Ensembl
rs2033196715 405 S>F No Ensembl
rs773266521 406 L>F No ExAC
gnomAD
rs1217292614 407 N>D No gnomAD
rs760495714 407 N>S No ExAC
TOPMed
gnomAD
COSM959615 408 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs375638857 412 S>C No TOPMed
gnomAD
rs375638857 412 S>F No TOPMed
gnomAD
RCV000892937
rs55739947
416 L>M No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1218547521 416 L>Q No gnomAD
rs1177097335 418 V>A No gnomAD
rs763083060 418 V>L No ExAC
TOPMed
gnomAD
RCV001944801
rs538150906
420 P>L No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1209278460 426 P>A No TOPMed
rs1349991935 426 P>R No TOPMed
gnomAD
TCGA novel 427 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs767732473 428 K>I No ExAC
TOPMed
gnomAD
rs767732473 428 K>T No ExAC
TOPMed
gnomAD
rs1453654500 429 C>R No TOPMed
gnomAD
rs201450091 429 C>Y No 1000Genomes
TCGA novel 430 C>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1318234747 430 C>F No gnomAD
rs2033276081 436 A>V No TOPMed
TCGA novel 437 L>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1188820322 438 E>G No gnomAD
rs1476877345 439 C>F No gnomAD
rs1476877345 439 C>Y No gnomAD
rs1317836448 441 P>A No TOPMed
rs754548120 442 D>E No ExAC
TOPMed
gnomAD
rs2033277373 442 D>N No TOPMed
rs1015865458
RCV002012762
442 D>V No ClinVar
TOPMed
dbSNP
gnomAD
TCGA novel 444 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM5159291
COSM1375689
445 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2033278238 445 A>S No gnomAD
rs747881165 445 A>V No ExAC
gnomAD
rs758006341 446 V>A No ExAC
gnomAD
rs758006341 446 V>G No ExAC
gnomAD
rs1174654799 446 V>I No TOPMed
gnomAD
rs993194467 447 F>L No TOPMed
gnomAD
rs76152020 448 W>L No Ensembl
rs2033279349 449 K>E No TOPMed
gnomAD
rs2033279468 450 N>S No Ensembl
rs1157264053 451 H>L No Ensembl
RCV001974536
rs777438481
452 L>P No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs2033280122 453 K>* No TOPMed
COSM6141652
COSM6141654
453 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1486538796 453 K>R No TOPMed
gnomAD
rs1487100650 454 D>E No TOPMed
rs200529094 454 D>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs200529094 454 D>Y No 1000Genomes
ExAC
TOPMed
gnomAD
rs2033280662 456 D>G No TOPMed
COSM282559 457 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1346889073 459 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
TCGA novel 460 N>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs113678526
RCV000947652
461 A>T No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs531721861 462 L>F No 1000Genomes
ExAC
gnomAD
rs768909431 463 K>E No ExAC
TOPMed
gnomAD
rs1487597371 463 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs2033281795 464 E>Q No Ensembl
rs371606687 466 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1264026847
COSM4699232
COSM4699234
466 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
TCGA novel 467 L>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1269637042 467 L>R No TOPMed
gnomAD
rs1478879427 470 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1174095366 473 D>A No gnomAD
rs1174095366 473 D>V No gnomAD
TCGA novel 474 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2033426302 475 L>H No Ensembl
rs1321714856 476 M>K No gnomAD
rs772177705 476 M>L No ExAC
TOPMed
gnomAD
rs772177705 476 M>V No ExAC
TOPMed
gnomAD
rs773371877 477 F>L No ExAC
gnomAD
rs1488899950 479 R>T No TOPMed
gnomAD
rs1198284104 481 Q>R No TOPMed
gnomAD
rs1456270070 483 N>Y No gnomAD
rs1251076782 485 L>V No gnomAD
rs377571378 486 A>V No ESP
ExAC
TOPMed
gnomAD
rs1232533272 487 A>S No TOPMed
gnomAD
rs1323910825 490 P>S No TOPMed
gnomAD
rs753186926 491 Q>R No ExAC
TOPMed
gnomAD
rs1169485935 494 W>R No TOPMed
gnomAD
rs2033428973 497 R>T No TOPMed
rs2033429191 499 L>I No Ensembl
rs757916117 501 T>I No ExAC
gnomAD
rs1394823786 504 L>R No gnomAD
rs2033430021 510 G>A No Ensembl
rs566734053 511 K>E No 1000Genomes
ExAC
TOPMed
gnomAD
RCV001945546
rs770937949
511 K>N No ClinVar
ExAC
dbSNP
gnomAD
rs1335513063 511 K>R No gnomAD
rs1270102762 512 N>S No TOPMed
COSM5212675
COSM1477913
513 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1049141464 513 E>K No TOPMed
gnomAD
rs2141700870 514 D>Y No Ensembl
rs770108501 516 L>P No ExAC
gnomAD
rs2033481892 517 K>E No gnomAD
rs1365834896 518 T>M No TOPMed
gnomAD
rs1567233858 519 K>N No Ensembl
RCV001981986
rs774941330
520 R>C No ClinVar
ExAC
dbSNP
gnomAD
rs2033482549 520 R>H No Ensembl
COSM3969001
COSM3969003
521 I>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs868044422 521 I>V No Ensembl
rs767129254 523 F>V No ExAC
gnomAD
rs375733293 524 F>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1267137737 526 T>I No TOPMed
gnomAD
rs777091251 527 R>G No TOPMed
gnomAD
rs1226232670 528 G>D No TOPMed
rs1245703001 529 R>C No TOPMed
gnomAD
rs765898071 529 R>L No ExAC
gnomAD
rs754659010 530 Q>H No ExAC
TOPMed
gnomAD
rs200499483 531 R>C No ESP
ExAC
TOPMed
gnomAD
RCV001983596
rs200499483
531 R>G No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2033484669 531 R>H No Ensembl
rs2033484883 532 S>P No Ensembl
rs781229505 533 G>R No ExAC
TOPMed
gnomAD
rs781229505 533 G>W No ExAC
TOPMed
gnomAD
rs780075028 534 T>I No ExAC
gnomAD
rs780075028 534 T>S No ExAC
gnomAD
rs1013772472 535 E>D No TOPMed
gnomAD
rs1327622975 536 A>T No gnomAD
rs1464285760 537 A>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs2033486005 537 A>P No TOPMed
rs2141708186 538 S>C No Ensembl
rs904019203 541 E>K No TOPMed
gnomAD
rs772736703 543 P>L No ExAC
TOPMed
gnomAD
rs55798315
RCV000968486
543 P>S No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs763899406 544 A>T No TOPMed
gnomAD
rs2033760973 545 F>S No TOPMed
gnomAD
rs2033761084 546 L>P No Ensembl
TCGA novel 547 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1296485632 548 E>V No TOPMed
gnomAD
rs1459531837 549 S>P No TOPMed
gnomAD
rs776409174 552 V>F No ExAC
gnomAD
rs776409174 552 V>I No ExAC
gnomAD
rs759169632 553 L>F No ExAC
TOPMed
gnomAD
rs1423124755 554 C>Y No TOPMed
rs769390447 555 L>V No ExAC
gnomAD
rs762674468 557 D>N No ExAC
TOPMed
gnomAD
rs764032483 560 L>I No ExAC
gnomAD
rs764032483 560 L>V No ExAC
gnomAD
rs761695009 561 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs761695009 561 D>Y No ExAC
TOPMed
gnomAD
rs1198339219 562 T>I No TOPMed
gnomAD
rs766339820 563 V>F No ExAC
TOPMed
gnomAD
rs766339820 563 V>I No ExAC
TOPMed
gnomAD
rs1262313834 564 P>L No TOPMed
rs867186599 564 P>S No TOPMed
gnomAD
RCV001985306
rs867186599
564 P>T No ClinVar
TOPMed
dbSNP
gnomAD
rs141522582 566 S>L No 1000Genomes
ExAC
gnomAD
rs1373918258 567 V>I No gnomAD
rs753116269 568 C>F No ExAC
TOPMed
gnomAD
rs1304804237 568 C>R No TOPMed
TCGA novel 570 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1403388422 571 K>E No TOPMed
rs2033765412 572 S>G No TOPMed
rs758773787 572 S>N No ExAC
COSM4826930
COSM4826932
574 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1026190245 576 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1026190245 576 L>I No gnomAD
rs780592294 576 L>P No ExAC
gnomAD
rs1319866402 577 Y>C No gnomAD
rs1319866402 577 Y>F No gnomAD
rs2033766607 578 L>M No gnomAD
rs745344763 579 G>V No ExAC
gnomAD
rs779750560 582 P>A No ExAC
gnomAD
rs1270375539 584 L>V No TOPMed
gnomAD
COSM6141649
COSM6141651
585 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs538821865 585 R>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs538821865
RCV002032100
585 R>Q No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs768546791 585 R>W No 1000Genomes
ExAC
TOPMed
gnomAD
rs1275278452 587 L>V No gnomAD
rs771907397 588 P>L No ExAC
gnomAD
rs771907397 588 P>R No ExAC
gnomAD
rs759743498 589 P>H No ExAC
gnomAD
rs759743498 589 P>R No ExAC
gnomAD
rs773225777 589 P>S No ExAC
TOPMed
gnomAD
rs2033812975 593 Q>L No Ensembl
rs1251231353 595 G>S No gnomAD
rs2033813542 596 N>S No TOPMed
RCV001900833
rs2033813786
597 L>F No ClinVar
TOPMed
dbSNP
rs1455216844 598 W>* No Ensembl
rs1455216844 598 W>S No Ensembl
rs2033814151 599 Q>* No TOPMed
rs2033814151 599 Q>K No TOPMed
rs1419500207 600 L>P No gnomAD
RCV001910933
rs763061068
602 T>I No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs536343284 604 D>E No 1000Genomes
ExAC
gnomAD
COSM4053464
COSM4053466
605 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2033814795 606 T>A No TOPMed
rs376893013 609 N>S No ESP
ExAC
TOPMed
gnomAD
COSM4925081
COSM4925079
611 P>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1299227526 612 A>T No TOPMed
gnomAD
rs767970862 614 I>T No ExAC
gnomAD
rs1412937940 615 Q>E No gnomAD
rs2141709839 615 Q>R No Ensembl
rs755662621 617 E>K No ExAC
TOPMed
gnomAD
rs80186667 618 G>A No Ensembl
COSM959617 618 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1389322413 619 P>L No TOPMed
rs2033836110 620 K>R No TOPMed
gnomAD
rs753290789 621 A>V No ExAC
gnomAD
rs754452197 622 M>T No ExAC
gnomAD
rs1471655500 624 S>F No TOPMed
gnomAD
rs200770615 624 S>T No 1000Genomes
ExAC
TOPMed
gnomAD
COSM2200499
COSM2200498
rs747828168
627 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
RCV001895518
rs753941048
627 R>H No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs753941048 627 R>L No ExAC
TOPMed
gnomAD
rs1245381002 628 A>G No TOPMed
rs1176065275
COSM5350241
COSM5350242
629 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1006607984
RCV001892954
630 L>R No ClinVar
TOPMed
dbSNP
gnomAD
rs779184003
COSM1213957
631 R>Q large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
RCV002048456
rs192470343
631 R>W No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1347137222 632 K>Q No TOPMed
gnomAD
rs749390141 633 A>V No ExAC
TOPMed
gnomAD
rs2033839853 635 K>M No Ensembl
rs1596286684 635 K>Q No TOPMed
rs762074642 636 C>F No ExAC
TOPMed
gnomAD
rs762074642 636 C>Y No ExAC
TOPMed
gnomAD
rs1305528910 637 K>R No gnomAD
rs1320984844 638 L>Q No Ensembl
rs772234195 639 M>I No ExAC
gnomAD
COSM699631
COSM1646651
640 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2033840823 641 M>I No TOPMed
rs2033840973 642 I>N No Ensembl
rs918407051 643 I>L No TOPMed
rs918407051 643 I>V No TOPMed
COSM1375691
COSM5158930
rs375903897
644 V>M Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2033841599 645 G>S No TOPMed
rs377316707 646 P>S No ESP
ExAC
gnomAD
rs377316707 646 P>T No ESP
ExAC
gnomAD
rs764768964 647 P>L No ExAC
TOPMed
gnomAD
TCGA novel 647 P>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM3499729
COSM3499727
647 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs200971195 648 R>C No ExAC
TOPMed
gnomAD
rs777502572 648 R>H No ExAC
TOPMed
gnomAD
TCGA novel 648 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs777502572 648 R>P No ExAC
TOPMed
gnomAD
rs1188594611 649 Q>H No TOPMed
gnomAD
rs2033842452 650 G>S No TOPMed
rs949321749 653 T>A No Ensembl
rs2033842901 653 T>I No Ensembl
rs34885781 654 L>I No gnomAD
rs2033843754 657 I>L No TOPMed
rs781346039 657 I>M No ExAC
gnomAD
rs530260600 660 T>K No 1000Genomes
ExAC
TOPMed
gnomAD
COSM4475303
RCV001919286
rs530260600
COSM4475302
660 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ClinVar
1000Genomes
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs1392637520 661 G>E No TOPMed
gnomAD
rs1164323692 661 G>W No TOPMed
gnomAD
rs779074952 662 R>K No ExAC
gnomAD
rs2033844987 662 R>S No TOPMed
rs2033845095 663 A>V No TOPMed
rs748140184 664 P>R No ExAC
gnomAD
rs1276075553 665 Q>E No TOPMed
TCGA novel 665 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs773362599 666 V>L No ExAC
TOPMed
gnomAD
rs773362599 666 V>M No ExAC
TOPMed
gnomAD
rs2033846366 668 H>L No gnomAD
rs1332242404 668 H>Y No TOPMed
gnomAD
COSM4148340
rs2141710821
669 G>* thyroid [Cosmic] No cosmic curated
Ensembl
rs777044065 669 G>A No ExAC
gnomAD
rs935196455 670 E>D No TOPMed
TCGA novel 670 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
RCV001958290
rs745630986
672 T>missing No ClinVar
dbSNP
rs760065482 672 T>A No ExAC
gnomAD
rs760065482 672 T>P No ExAC
gnomAD
rs765611843 676 T>A No ExAC
gnomAD
rs2141710869 677 K>R No Ensembl
rs1235154576 678 W>G No gnomAD
rs1415877583 683 P>L No TOPMed
gnomAD
rs1166776778 684 A>V No gnomAD
TCGA novel 687 R>E Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
COSM3499730
COSM3499732
690 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs919588747 690 V>F No Ensembl
rs755804910 691 E>G No ExAC
gnomAD
TCGA novel 691 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2033946833
RCV001864587
691 E>Q No ClinVar
Ensembl
dbSNP
RCV001876479
rs200409352
692 S>T No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs201243082 693 V>M No ExAC
TOPMed
gnomAD
rs1567241312 694 E>G No Ensembl
rs76435780 696 N>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141102052
RCV000963337
697 V>I No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1344347761 700 I>V No TOPMed
rs896004560 701 G>R No TOPMed
gnomAD
rs770051407 702 G>A No ExAC
TOPMed
gnomAD
COSM3886699
COSM3886697
702 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1393261925 704 A>G No gnomAD
rs769240723 705 S>I No ExAC
gnomAD
rs774033253 706 M>I No ExAC
gnomAD
rs761343909 707 A>T No ExAC
gnomAD
TCGA novel 710 N>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1287711282 711 Q>K No gnomAD
rs1259266503 713 F>C No TOPMed
rs767215413 713 F>V No ExAC
gnomAD
rs2033950214 714 F>L No gnomAD
rs78191111 715 T>R No Ensembl
rs766053466 716 D>E No ExAC
TOPMed
gnomAD
rs760582606 716 D>G No ExAC
gnomAD
rs758131541 716 D>Y No Ensembl
rs753818870 718 A>T No ExAC
gnomAD
rs1328893943 721 V>A No TOPMed
rs199919214 721 V>L No ESP
ExAC
TOPMed
gnomAD
RCV002047822
rs199919214
721 V>M No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1285293554 724 W>* No gnomAD
COSM1323737 725 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1297141389 726 L>V No TOPMed
COSM4053469
COSM4053471
rs891430665
727 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1455548471 730 E>G No gnomAD
rs1198900798 731 E>K No gnomAD
rs1198900798 731 E>Q No gnomAD
rs2033953814 732 A>V No TOPMed
gnomAD
rs370663048 733 V>M No ESP
ExAC
TOPMed
gnomAD
rs996103849 735 N>H No Ensembl
rs2033954489 735 N>S No TOPMed
rs562726580
RCV002120540
736 L>V No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1461201082 738 F>L No gnomAD
rs746593625 741 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs2033955141 741 L>H No gnomAD
rs769293742 742 N>S No ExAC
gnomAD
rs2033955564 743 I>N No TOPMed
rs371661382 744 E>* No ESP
ExAC
TOPMed
gnomAD
rs371661382 744 E>K No ESP
ExAC
TOPMed
gnomAD
rs1567242360 746 K>M No Ensembl
rs2034009123 747 A>T No TOPMed
rs1371799804 749 N>D No TOPMed
gnomAD
rs772262731 750 A>T No ExAC
TOPMed
gnomAD
RCV001914906
rs141579296
751 V>M No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs887555486 753 L>P No TOPMed
rs760948329 756 G>R No Ensembl
rs1172054475 757 T>M No TOPMed
COSM433601
COSM5200933
758 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1014001464 759 L>R No Ensembl
rs1230489888 759 L>V No TOPMed
gnomAD
rs2034011945 760 D>N No TOPMed
rs199817137 761 L>F No ESP
ExAC
TOPMed
gnomAD
rs896287484 762 I>F No TOPMed
gnomAD
rs765670323 762 I>T No ExAC
gnomAD
rs2034012746 763 E>K No TOPMed
rs2034013235 765 K>N No TOPMed
rs1200186227 765 K>R No TOPMed
gnomAD
rs1200186227 765 K>T No TOPMed
gnomAD
rs1186256525 767 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs753053998
COSM3815674
COSM3815672
767 R>H Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753053998 767 R>P No ExAC
TOPMed
gnomAD
rs2034014085 770 R>K No Ensembl
RCV001892357
rs201803929
771 I>T No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs373497333 772 A>V No ESP
ExAC
TOPMed
gnomAD
TCGA novel 774 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1018773132 775 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs368099995 775 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs368099995 775 R>P No ESP
ExAC
TOPMed
gnomAD
rs768495809 778 V>A No ExAC
TOPMed
gnomAD
rs768495809 778 V>E No ExAC
TOPMed
gnomAD
rs2034016684 778 V>M No TOPMed
rs1231380055 780 A>T No gnomAD
rs2141101055 780 A>V No Ensembl
rs572305968 783 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs777040315 783 R>H No ExAC
TOPMed
gnomAD
rs759855609 784 S>T No ExAC
TOPMed
gnomAD
rs1258652050 784 S>Y No TOPMed
gnomAD
rs1466528093 785 P>H No gnomAD
rs1252856565 786 S>C No gnomAD
rs1252856565 786 S>F No gnomAD
rs367783860
COSM959624
787 G>S Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752076949 788 S>P No ExAC
gnomAD
TCGA novel 790 A>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1567242706 791 T>A No TOPMed
gnomAD
rs1167430688 791 T>I No gnomAD
COSM3886700
COSM3886702
792 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2034020368 797 T>A No gnomAD
rs756811495 797 T>I No ExAC
TOPMed
gnomAD
rs2034020634 798 F>C No Ensembl
rs2141101125 798 F>L No Ensembl
rs2034020759 799 K>T No Ensembl
rs780703616 800 H>N No ExAC
gnomAD
rs745342762 800 H>Q No ExAC
TOPMed
gnomAD
rs780703616 800 H>Y No ExAC
gnomAD
rs2141102369 802 H>Q No Ensembl
rs1276599427 802 H>Y No gnomAD
rs1040913056 803 E>G No Ensembl
rs1040913056 803 E>V No Ensembl
COSM2200542
COSM959626
805 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2034073805 809 L>P No gnomAD
rs372434815 810 E>K No ESP
ExAC
gnomAD
rs866015235 811 G>S No Ensembl
rs200114885 814 G>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs774702868 814 G>V No ExAC
gnomAD
rs766532218
COSM4053480
COSM4053478
816 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs762111517 816 R>L No ExAC
TOPMed
gnomAD
rs762111517 816 R>P No ExAC
TOPMed
gnomAD
rs762111517 816 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs761403767 817 Q>H No gnomAD
rs2034076259 819 I>T No Ensembl
rs1213306218 819 I>V No gnomAD
rs750927387 820 F>L No ExAC
gnomAD
rs1263333149 821 H>L No TOPMed
gnomAD
rs760146211 821 H>Y No ExAC
gnomAD
COSM3386780
rs1050845680
COSM3386778
822 V>I Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1050845680 822 V>L No TOPMed
gnomAD
rs941918894 826 M>L No Ensembl
rs778637944 826 M>T No ExAC
gnomAD
rs2034078064 827 K>E No Ensembl
rs373879296 827 K>R No ESP
ExAC
TOPMed
gnomAD
TCGA novel 828 D>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1596294295 828 D>A No Ensembl
rs1399654915 829 V>A No TOPMed
gnomAD
rs200452644 830 G>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs186890317 831 S>N No 1000Genomes
rs1415786642 832 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1596294339 832 T>P No Ensembl
rs370572047 833 I>N No ESP
TOPMed
rs749260427 833 I>V No ExAC
TOPMed
gnomAD
rs768937081 834 G>S No ExAC
TOPMed
gnomAD
rs1478755633 835 C>S No TOPMed
rs1596294380 835 C>W No Ensembl
rs1366577662 837 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs774547176 837 R>Q No ExAC
TOPMed
gnomAD
rs2034081222 838 L>M No TOPMed
rs1007554321 841 R>Q No TOPMed
gnomAD
rs375374079 841 R>W No ESP
ExAC
TOPMed
gnomAD
rs1329603545 844 P>H No gnomAD
rs759150062 845 R>G No ExAC
TOPMed
gnomAD
TCGA novel 845 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1596294939 847 Y>S No Ensembl
rs775330321 848 L>M No ExAC
TOPMed
gnomAD
rs775330321 848 L>V No ExAC
TOPMed
gnomAD
rs762727247 849 S>R No ExAC
TOPMed
rs763773289
COSM98988
852 E>K stomach [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs751385962 853 A>T No ExAC
TOPMed
gnomAD
rs1023999423 854 V>A No Ensembl
rs368404584 854 V>L No ESP
ExAC
TOPMed
gnomAD
rs368404584
RCV001991418
854 V>M No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 859 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs750298507 860 R>C No ExAC
TOPMed
gnomAD
RCV001988799
COSM959628
rs142470911
860 R>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ClinVar
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs981947042 861 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs778989938 861 R>H No ExAC
TOPMed
gnomAD
TCGA novel 863 R>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs777797735 863 R>Q No ExAC
TOPMed
gnomAD
rs758619910 863 R>W No ExAC
TOPMed
gnomAD
rs915301795 864 D>H No 1000Genomes
TOPMed
gnomAD
rs915301795 864 D>N No 1000Genomes
TOPMed
gnomAD
rs202089769 865 D>H No ExAC
TOPMed
gnomAD
rs202089769
RCV002125828
865 D>N No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
RCV002173199
rs56003881
866 D>N No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs374008052 867 V>L No ESP
ExAC
TOPMed
gnomAD
rs374008052 867 V>M No ESP
ExAC
TOPMed
gnomAD
rs1274852106 868 Q>* No gnomAD
rs560090431 868 Q>L No TOPMed
gnomAD
rs560090431 868 Q>R No TOPMed
gnomAD
rs1179791606 869 Y>C No gnomAD
rs1258675580 870 L>P No gnomAD
rs762496843 871 T>M No ExAC
gnomAD
rs773874591 872 D>G No ExAC
gnomAD
rs2034105491 872 D>Y No Ensembl
rs1169332520 876 E>* No gnomAD
rs1169332520 876 E>K No gnomAD
rs1169332520 876 E>Q No gnomAD
rs761710931 877 Q>E No ExAC
TOPMed
gnomAD
rs1464705980 879 V>G No gnomAD
rs1222722240 879 V>M No TOPMed
COSM5209538
COSM433603
880 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs531640499 880 E>D No 1000Genomes
ExAC
gnomAD
rs767199367 880 E>G No ExAC
gnomAD
rs1304862195 880 E>K No gnomAD
rs1304862195 880 E>Q No gnomAD
rs767199367 880 E>V No ExAC
gnomAD
rs1296705143 881 Q>H No gnomAD
rs201854079 882 T>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs752784877 883 P>S No ExAC
gnomAD
rs758457191 884 D>H No ExAC
TOPMed
gnomAD
rs758457191 884 D>N No ExAC
TOPMed
gnomAD
rs997852963 886 D>N No TOPMed
gnomAD
rs757689685 887 I>M No ExAC
gnomAD
rs77112930 888 K>R No Ensembl
rs2141103392 889 D>E No Ensembl
rs1189823477 889 D>G No gnomAD
rs1451916944 889 D>N No gnomAD
rs866448925 890 Y>H No Ensembl
rs746169733 891 E>K No ExAC
TOPMed
gnomAD
rs2034110305 893 L>V No TOPMed
rs1466315314 895 S>L No gnomAD
rs747624120 896 A>V No ExAC
TOPMed
gnomAD
rs200667677 898 S>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs200667677 898 S>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs2034161280 899 F>C No gnomAD
rs1247341695 900 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs2141104648 901 I>M No Ensembl
rs1224886642 901 I>T No TOPMed
rs1596296664 903 T>P No Ensembl
rs1482022169 904 G>D No gnomAD
rs2034162012 904 G>S No Ensembl
rs1596296692 905 T>P No Ensembl
rs1180277045 905 T>S No TOPMed
gnomAD
rs1412669248 907 L>I No gnomAD
rs770680533 907 L>P No ExAC
TOPMed
gnomAD
rs1596296729 909 F>S No Ensembl
rs1050786363 910 P>L No gnomAD
rs765181449 912 T>P No ExAC
gnomAD
rs774309946 915 G>S No ExAC
TOPMed
gnomAD
rs1003990525 920 Y>C No Ensembl
rs2034164808 921 F>L No Ensembl
rs2034164929 922 L>R No TOPMed
gnomAD
rs200062338 923 D>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs200062338 923 D>N No 1000Genomes
ExAC
TOPMed
gnomAD
COSM959632 926 W>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs766875506 929 E>K No ExAC
TOPMed
gnomAD
rs766875506 929 E>Q No ExAC
TOPMed
gnomAD
rs2034165777 930 C>Y No TOPMed
gnomAD
rs1596296819 933 R>M No Ensembl
TCGA novel 936 N>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1182311678 939 G>C No Ensembl
rs754220038 939 G>D No ExAC
gnomAD
rs185373027 940 S>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs755449019 940 S>P No ExAC
gnomAD
rs757918696 941 R>Q No ExAC
TOPMed
gnomAD
rs747666136
RCV001902644
941 R>W No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs2034167443 946 N>K No Ensembl
rs2034167749 948 V>M No TOPMed
TCGA novel 949 I>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1183522126 950 R>T No gnomAD
rs1596296895 951 A>T No Ensembl
rs746639649 951 A>V No ExAC
gnomAD
rs190712554 953 D>E No 1000Genomes
ExAC
gnomAD
rs201392064 955 R>K No 1000Genomes
ExAC
gnomAD
rs769677938 955 R>S No ExAC
gnomAD
rs775494533 956 M>L No ExAC
TOPMed
gnomAD
rs1349039201 958 L>Q No TOPMed
rs1285701374 959 V>G No TOPMed
rs988874365 959 V>L No Ensembl
rs761840209 961 T>I No ExAC
gnomAD
rs761840209 961 T>N No ExAC
gnomAD
rs796226537 964 T>E No Ensembl
rs767685227 964 T>M No ExAC
TOPMed
gnomAD
COSM4053484
COSM4053486
965 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1304950127 966 Q>L No Ensembl
rs1343031369 967 T>A No TOPMed
gnomAD
rs41531245
RCV002082476
967 T>M No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs369170053 968 E>K No gnomAD
rs2034172256 969 E>Q No TOPMed
gnomAD
rs947265550 971 Y>C No TOPMed
gnomAD
rs374599598 972 F>L No ESP
ExAC
TOPMed
gnomAD
rs1178431017 972 F>L No TOPMed
gnomAD
RCV002036677
rs201547686
974 F>L No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2034172925 974 F>Y No TOPMed
rs559037479 976 A>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs559037479 976 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs2034173400 976 A>V No TOPMed
COSM2200584
COSM2200582
rs939724696
981 A>T Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
NCI-TCGA
TOPMed
gnomAD
rs2141104979 983 P>A No Ensembl
COSM2200585
COSM2200587
rs369265377
984 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2034174505 985 A>T No TOPMed
gnomAD
rs1323525873 986 N>H No TOPMed
RCV002047743
rs2141105006
986 N>K No ClinVar
Ensembl
dbSNP
RCV002033030
rs199709127
986 N>S No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs377315974 987 D>E No ESP
ExAC
TOPMed
gnomAD
rs768678229 988 S>C No ExAC
TOPMed
gnomAD
rs768678229 988 S>G No ExAC
TOPMed
gnomAD
rs1184817709 992 P>L No gnomAD
rs2141122311
RCV002008826
994 L>V No ClinVar
Ensembl
dbSNP
COSM1646649
COSM699627
997 S>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1364842626 997 S>P No gnomAD
rs2035055800 998 K>E No TOPMed
rs2035055947 998 K>I No TOPMed
gnomAD
rs1457821862 1000 G>D No gnomAD
rs2035056520 1002 D>N No TOPMed
rs769865724 1002 D>V No ExAC
rs764652283 1004 H>R No ExAC
TOPMed
gnomAD
rs2035057482 1005 G>D No TOPMed
rs761362971 1005 G>S No ExAC
TOPMed
gnomAD
rs2035057868 1006 M>T No Ensembl
rs367709807 1007 R>Q No ESP
ExAC
TOPMed
gnomAD
rs370459525
COSM4053487
COSM4053489
1007 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1272354949 1008 H>Y No TOPMed
gnomAD
rs1436285093 1009 P>S No TOPMed
gnomAD
rs2035059099 1013 T>A No Ensembl
rs754811151 1015 Q>H No ExAC
TOPMed
gnomAD
rs2035059498 1016 R>W No Ensembl
rs1596316921 1017 V>E No Ensembl
TCGA novel 1019 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1176301432 1019 K>T No TOPMed
gnomAD
rs1251670485 1020 M>I No gnomAD
rs2035060003 1020 M>R No TOPMed
rs2035060418 1022 F>L No TOPMed
gnomAD
rs781362754 1023 V>I No ExAC
TOPMed
gnomAD
rs2035060707 1024 P>A No TOPMed
gnomAD
rs770068206 1025 V>I No ExAC
TOPMed
gnomAD
rs368567214 1026 G>A No ESP
ExAC
TOPMed
gnomAD
rs1299019662 1032 I>K No gnomAD
rs1247301494
RCV001902806
1032 I>M No ClinVar
TOPMed
dbSNP
gnomAD
rs1299019662 1032 I>T No gnomAD
rs749693795 1034 R>Q No ExAC
TOPMed
gnomAD
rs372293144 1034 R>W No ESP
TOPMed
gnomAD
rs1245145585 1035 M>I No gnomAD
rs768987575 1035 M>T No ExAC
gnomAD
rs538312065 1038 S>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs538312065 1038 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs766117523 1040 A>V No ExAC
TOPMed
gnomAD
rs2035063823 1045 Q>L No TOPMed
rs1265360267 1048 E>G No gnomAD
rs1208647497 1054 K>E No gnomAD
rs1246733997 1055 S>G No gnomAD
COSM1300959
rs748456823
1058 R>K Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2035214274 1059 K>N No TOPMed
gnomAD
rs2035214454 1061 T>P No Ensembl
rs1351909744 1062 I>L No TOPMed
gnomAD
rs1351909744 1062 I>V No TOPMed
gnomAD
COSM4053490
COSM4053492
1066 T>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1067 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1178570157 1068 N>K No gnomAD
rs2035215310 1070 R>G No Ensembl
rs1431147853 1070 R>K No gnomAD
COSM261855 1071 N>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs376281560 1072 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs765787797 1072 R>H No ExAC
gnomAD
rs776235920 1073 C>Y No ExAC
gnomAD
rs2035216151 1074 S>G No gnomAD
rs759296759 1074 S>N No ExAC
TOPMed
gnomAD
rs2035216378 1076 F>L No gnomAD
rs2035216496 1077 R>* No TOPMed
rs2035216783 1078 V>M No Ensembl
rs1018354863 1082 Q>H No TOPMed
gnomAD
rs1304931060 1083 T>A No TOPMed
gnomAD
rs539691388
RCV002161480
1084 I>T No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs2035217377 1085 Y>D No TOPMed
rs1393239281 1086 W>C No TOPMed
gnomAD
rs2035217511 1087 Q>* No Ensembl
rs1596320974 1088 E>G No Ensembl
COSM2200620
rs752554538
COSM2200618
1088 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1321235742 1090 L>F No TOPMed
gnomAD
rs1287460559 1090 L>H No gnomAD
rs1321235742 1090 L>V No TOPMed
gnomAD
rs1596321002 1092 V>G No Ensembl
rs1324636253 1096 G>E No gnomAD
rs1266729329 1097 G>C No gnomAD
rs1319288561 1097 G>D No gnomAD
rs1266729329 1097 G>S No gnomAD
rs200404538 1099 L>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200404538 1099 L>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1428684279 1102 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs2035287557 1102 E>D No TOPMed
rs371351101 1105 D>E No ESP
ExAC
TOPMed
gnomAD
RCV002078397
rs78587240
1105 D>N No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs200111263 1106 V>L No gnomAD
rs200111263 1106 V>M No gnomAD
rs1055979271 1107 N>Y No TOPMed
rs1396900032 1109 K>Q No TOPMed
RCV001980349
rs2141128456
1112 K>Q No ClinVar
Ensembl
dbSNP
rs2035289511 1113 S>N No TOPMed
rs762543442 1113 S>R No ExAC
TOPMed
gnomAD
rs768286875
COSM271369
1114 G>R Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2035290072 1115 G>E No Ensembl
rs41425846 1118 I>M No ExAC
TOPMed
gnomAD
rs2035290715 1120 C>W No Ensembl
COSM3420178
COSM3420176
1121 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs773055907 1121 Q>R No ExAC
TOPMed
gnomAD
rs1459904257 1124 V>E No TOPMed
gnomAD
RCV001883045
rs373841325
1125 R>G No ClinVar
ESP
TOPMed
dbSNP
gnomAD
rs2035291515 1126 D>E No Ensembl
COSM4816556
COSM4816554
1128 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2035291823 1129 A>D No Ensembl
rs2035291659 1129 A>P No TOPMed
rs2035292134 1131 A>V No gnomAD
rs765327562 1134 T>A No ExAC
gnomAD
rs61733312 1134 T>K No ExAC
TOPMed
gnomAD
COSM255292
rs61733312
1134 T>M central_nervous_system [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs61733312 1134 T>R No ExAC
TOPMed
gnomAD
rs1455038791 1135 D>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs764322028 1135 D>Y No ExAC
gnomAD
rs1401599388 1137 V>A No TOPMed
gnomAD
rs537781752 1137 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1202181508 1139 S>A No TOPMed
gnomAD
TCGA novel 1139 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM3499736
COSM3499738
1142 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 1143 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2035295313 1143 Q>P No Ensembl
TCGA novel 1147 A>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs376554922 1147 A>S No ExAC
TOPMed
gnomAD
rs376554922 1147 A>T No ExAC
TOPMed
gnomAD
rs747816549 1149 T>K No ExAC
TOPMed
gnomAD
rs1596326746 1149 T>P No Ensembl
rs2035455837 1151 T>I No TOPMed
rs2035456492 1154 D>G No TOPMed
rs1290143171 1154 D>N No TOPMed
gnomAD
rs762983452 1155 G>R No ExAC
TOPMed
gnomAD
rs768759171 1156 T>M No ExAC
gnomAD
rs765489207 1157 P>L No Ensembl
rs1283656818 1158 L>V No gnomAD
rs767789230 1159 M>V No ExAC
TOPMed
gnomAD
rs1470869746 1161 Q>E No Ensembl
rs1281214969 1162 Y>C No gnomAD
rs761113327 1163 V>L No ExAC
TOPMed
gnomAD
rs761113327 1163 V>M No ExAC
TOPMed
gnomAD
rs2141132820 1164 P>S No Ensembl
rs1222833998 1167 V>I No gnomAD
rs2141132873 1169 E>G No Ensembl
rs755387791 1169 E>K No ExAC
gnomAD
rs755387791 1169 E>Q No ExAC
gnomAD
rs1472484324 1174 Q>P No gnomAD
rs1161712901 1175 H>D No gnomAD
rs369305577 1176 T>M No ESP
ExAC
TOPMed
gnomAD
rs1307730712 1177 D>E No TOPMed
gnomAD
COSM4922915
COSM4922913
1177 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs758062446 1178 P>L No ExAC
TOPMed
gnomAD
rs758062446 1178 P>R No ExAC
TOPMed
gnomAD
rs960673143 1178 P>S No Ensembl
rs960673143 1178 P>T No Ensembl
rs777394343 1179 S>N No ExAC
gnomAD
rs777394343 1179 S>T No ExAC
gnomAD
rs374717787 1181 K>R No ESP
ExAC
TOPMed
gnomAD
rs2035461405 1182 S>P No TOPMed
rs1245205004 1183 E>K No TOPMed
gnomAD
rs2035462081 1184 D>N No TOPMed
rs200666835 1185 V>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200666835 1185 V>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs866854209 1185 V>M No gnomAD
RCV001938185
rs373432119
1186 Q>R No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM699625
COSM1646648
1187 Y>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs774585715 1189 D>A No ExAC
gnomAD
rs769551074 1189 D>H No ExAC
TOPMed
gnomAD
rs769551074 1189 D>N No ExAC
TOPMed
gnomAD
rs532404694 1190 M>L No 1000Genomes
ExAC
gnomAD
rs1182348413 1190 M>T No TOPMed
gnomAD
rs532404694 1190 M>V No 1000Genomes
ExAC
gnomAD
rs1367751693 1191 E>D No Ensembl
rs773533129 1191 E>K No ExAC
gnomAD
rs760991902 1192 D>E No ExAC
gnomAD
rs1460242604 1195 L>R No gnomAD
rs754107420 1196 T>M No ExAC
TOPMed
gnomAD
COSM3886703
COSM3886705
1197 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs369473298 1198 I>M No ESP
ExAC
TOPMed
gnomAD
RCV002011624
rs1050305838
1198 I>V No ClinVar
TOPMed
dbSNP
gnomAD
rs566023115 1199 E>K No 1000Genomes
ExAC
gnomAD
rs777443874 1200 R>W No ExAC
TOPMed
gnomAD
rs267604401 1201 D>N No Ensembl
rs2035470096 1203 I>M No TOPMed
gnomAD
TCGA novel 1207 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs781044673 1207 R>K No ExAC
gnomAD
COSM3987869
COSM3987871
1208 H>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1596327227 1208 H>P No TOPMed
rs1596327227 1208 H>R No TOPMed
rs769826948 1209 P>A No ExAC
gnomAD
rs774546820
COSM3401592
COSM3401594
1209 P>L Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs2141133179
RCV001970134
1211 L>missing No ClinVar
dbSNP
rs2035472094 1211 L>F No Ensembl
rs773373328 1212 P>L No ExAC
TOPMed
gnomAD
rs773373328 1212 P>R No ExAC
TOPMed
gnomAD
rs772254004 1212 P>S No ExAC
gnomAD
rs2035473432 1213 V>A No TOPMed
rs199624259 1213 V>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199624259
RCV001889966
1213 V>M No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs370568105 1214 P>L No ESP
ExAC
TOPMed
gnomAD
TCGA novel 1216 Q>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs775945942 1216 Q>P No ExAC
gnomAD
rs2035474283 1217 E>D No gnomAD
COSM6141646
COSM6141648
1217 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2035474433 1221 E>K No Ensembl
RCV001927570
rs751030086
1226 D>N No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs2035475124 1227 F>L No TOPMed
rs370451042 1228 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
NCI-TCGA
gnomAD
rs2035475693 1229 A>P No Ensembl
rs2035551848 1232 F>C No TOPMed
rs1296908321 1234 E>D No TOPMed
gnomAD
rs2035552288 1234 E>K No TOPMed
rs2035552288 1234 E>Q No TOPMed
rs1376209745 1235 N>D No TOPMed
gnomAD
rs375762978 1236 S>N No ESP
ExAC
TOPMed
gnomAD
rs370150056 1237 K>N No ESP
ExAC
gnomAD
rs373500031
RCV002043765
1239 E>Q No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1429110266 1240 H>D No TOPMed
gnomAD
rs1391459204 1240 H>Q No gnomAD
RCV001870506
rs1429110266
1240 H>Y No ClinVar
TOPMed
dbSNP
gnomAD
rs780403145 1241 S>I No ExAC
gnomAD
rs377311326 1241 S>R No ESP
ExAC
TOPMed
gnomAD
rs547256891 1242 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs1596329517 1243 D>N No Ensembl
rs558530256 1244 E>K No ExAC
TOPMed
gnomAD
rs558530256 1244 E>Q No ExAC
TOPMed
gnomAD
rs1048503724 1245 G>S No Ensembl
rs772735483 1246 S>N No ExAC
gnomAD
rs2035558359 1247 V>A No gnomAD
rs200086296 1247 V>I No 1000Genomes
ExAC
TOPMed
gnomAD
COSM6076724
COSM6076722
1249 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1567271146 1250 Q>E No Ensembl
rs1567271167 1251 G>S No Ensembl
rs373729202 1252 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs758309073 1256 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
COSM98989
rs201939674
1257 I>V stomach [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1596329644 1258 Y>S No Ensembl
rs200606953 1259 R>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200606953
RCV002088502
1259 R>Q No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs750451092 1259 R>W No ExAC
TOPMed
gnomAD
rs2035561045 1260 A>S No TOPMed
RCV002023332
rs199933427
1261 R>Q No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs780250032 1261 R>W No ExAC
TOPMed
gnomAD
rs2035561515 1263 Q>* No TOPMed
rs2035561665 1264 G>S No TOPMed
rs1338947308 1266 P>S No gnomAD
rs966424843 1267 V>M No Ensembl
rs2035562257 1268 A>V No Ensembl
rs779284426 1269 V>I No ExAC
TOPMed
gnomAD
rs2035562719 1270 K>E No gnomAD
rs748630672 1271 R>C No ExAC
TOPMed
gnomAD
rs748630672 1271 R>G No ExAC
TOPMed
gnomAD
rs199804667
COSM959634
RCV001922161
1271 R>H endometrium [Cosmic] No cosmic curated
ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs199804667 1271 R>P No ESP
ExAC
TOPMed
gnomAD
rs748630672 1271 R>S No ExAC
TOPMed
gnomAD
rs911429879 1272 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs1184937563 1277 F>C No gnomAD
rs778455063
COSM4699246
COSM4699244
1277 F>I Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs1413148326 1277 F>L No TOPMed
rs1487742727 1278 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs893772249 1279 N>K No TOPMed
gnomAD
rs2035565605 1281 A>S No gnomAD
rs1474867399 1281 A>V No gnomAD
rs539324349 1282 N>K No 1000Genomes
ExAC
gnomAD
rs752497934 1283 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs752497934 1283 V>L No ExAC
TOPMed
gnomAD
rs1466480542 1284 P>A No gnomAD
rs145412332 1284 P>L No 1000Genomes
TOPMed
gnomAD
rs145412332 1284 P>Q No 1000Genomes
TOPMed
gnomAD
COSM4995548
COSM4995550
1287 T>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1433263726 1287 T>S No TOPMed
gnomAD
rs765481948 1288 M>T No ExAC
TOPMed
gnomAD
rs2035580324 1289 L>P No Ensembl
rs1301601156 1290 R>K No gnomAD
rs1363417994 1291 H>N No gnomAD
rs895020670 1292 L>M No Ensembl
rs2035580980 1292 L>P No TOPMed
gnomAD
rs1335061632 1293 R>Q No TOPMed
gnomAD
COSM5462428
COSM5462426
rs367837232
1293 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1310793939 1295 T>I No gnomAD
rs2035582349 1296 D>A No Ensembl
rs778478182 1296 D>N No ExAC
TOPMed
gnomAD
rs1289159562 1297 A>T No gnomAD
rs757799461 1298 M>I No ExAC
gnomAD
rs1210847045 1298 M>T No gnomAD
rs201354127 1298 M>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs780853666 1299 K>T No ExAC
gnomAD
COSM5717826
COSM5717828
1302 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs966747263 1303 E>K No TOPMed
rs2035583922 1304 F>L No Ensembl
rs745327307
RCV001924928
1305 R>G No ClinVar
ExAC
dbSNP
gnomAD
TCGA novel 1305 R>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2035584057 1305 R>Q No TOPMed
gnomAD
COSM3499744
COSM3499742
rs745327307
1305 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
COSM4053496
COSM4053498
1307 E>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1387346638 1307 E>D No gnomAD
rs575599729 1308 A>T No 1000Genomes
ExAC
gnomAD
rs1163597995 1308 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1389600474 1309 S>G No gnomAD
rs1333289419 1310 M>T No TOPMed
gnomAD
rs768518027 1312 H>Q No ExAC
TOPMed
gnomAD
rs774091908 1313 A>T No ExAC
TOPMed
gnomAD
RCV002015664
rs761740855
COSM5362907
COSM5362909
1313 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs1032474692 1314 L>M No TOPMed
gnomAD
rs1251097645 1315 Q>* No gnomAD
rs1337938231 1316 H>Q No gnomAD
COSM3499747
COSM3499745
1317 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2035586523 1317 P>T No TOPMed
gnomAD
rs564762598 1320 V>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs564762598 1320 V>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs1343146624 1321 A>T No TOPMed
RCV001867793
COSM124206
rs759654951
1321 A>V upper_aerodigestive_tract [Cosmic] No cosmic curated
ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1381857016 1322 L>F No TOPMed
gnomAD
rs764587553 1324 G>A No ExAC
gnomAD
rs1372221915 1324 G>R No TOPMed
gnomAD
rs1372221915 1324 G>S No TOPMed
gnomAD
rs1172705479 1325 I>T No gnomAD
rs2035588745 1325 I>V No Ensembl
COSM3815678
COSM3815680
1326 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs751906540 1326 S>G No ExAC
gnomAD
rs757854467 1326 S>T No ExAC
rs1596330624 1328 H>P No Ensembl
rs965565930 1328 H>Y No TOPMed
gnomAD
rs1380724814 1329 P>L No gnomAD
rs1294484281 1330 L>R No gnomAD
rs1325029974 1331 C>Y No gnomAD
rs1029846060 1333 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs768226866 1335 E>D No ExAC
gnomAD
rs1370626875 1335 E>G No TOPMed
gnomAD
rs918860460 1336 L>F No Ensembl
rs918860460 1336 L>V No Ensembl
rs1483658995 1337 A>T No TOPMed
gnomAD
rs772060404 1337 A>V No ExAC
gnomAD
rs200335851 1338 P>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200335851 1338 P>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1424097791 1340 S>C No gnomAD
rs1230648334 1343 N>K No gnomAD
rs1360380885 1344 T>A No TOPMed
gnomAD
rs1360380885 1344 T>S No TOPMed
gnomAD
rs2035594377 1345 V>L No Ensembl
rs1251141495 1347 S>F No TOPMed
RCV001953961
rs779620336
1348 E>A No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs750960615 1348 E>K No ExAC
TOPMed
gnomAD
rs750960615 1348 E>Q No ExAC
TOPMed
gnomAD
TCGA novel 1349 N>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2035596234 1350 A>D No Ensembl
RCV000967395
rs77202443
1350 A>T No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1304127213 1351 R>G No gnomAD
rs566579135 1352 D>E No ExAC
TOPMed
gnomAD
rs1567272318 1352 D>N No Ensembl
rs55727462 1352 D>V No ExAC
TOPMed
gnomAD
TCGA novel 1353 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1297029520 1356 I>V No gnomAD
rs1379186022 1357 P>T No gnomAD
rs1206866127 1360 H>N No TOPMed
rs1314503355 1366 I>M No gnomAD
rs1567274364 1366 I>N Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1281760625 1366 I>T No gnomAD
rs1447669595 1366 I>V No TOPMed
gnomAD
rs2035711710 1371 A>D No gnomAD
rs760940198 1371 A>P No ExAC
gnomAD
rs760940198 1371 A>T No ExAC
gnomAD
rs766947451 1372 S>L No ExAC
TOPMed
gnomAD
rs766947451 1372 S>W No ExAC
TOPMed
gnomAD
rs1354255288 1374 L>P No TOPMed
rs1203719103 1375 A>V No gnomAD
rs368406955 1376 Y>C No ESP
ExAC
TOPMed
gnomAD
rs1178672341 1378 H>Q No gnomAD
rs758064403 1379 K>N No ExAC
gnomAD
rs1304499816 1380 K>R No Ensembl
rs763640946 1381 N>K No ExAC
TOPMed
gnomAD
rs1183240932 1384 F>I No gnomAD
COSM3420179
COSM3420181
1389 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs956247305 1392 I>V No TOPMed
gnomAD
TCGA novel 1393 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2035716118 1394 V>L No TOPMed
gnomAD
rs2035716597 1395 W>C No TOPMed
gnomAD
rs1403131690 1395 W>R No gnomAD
rs2035716747 1396 S>F No TOPMed
rs2035717159 1397 L>F No TOPMed
rs1415733977 1398 D>V No TOPMed
rs2141140546 1399 V>G No Ensembl
RCV002009237
rs756048864
1399 V>I No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs779146929 1400 K>* No ExAC
TOPMed
gnomAD
rs779146929 1400 K>E No ExAC
TOPMed
gnomAD
rs748220756 1400 K>T No ExAC
gnomAD
rs772400768 1401 E>Q No ExAC
gnomAD
rs1232673293 1402 H>P No TOPMed
rs1379599094 1402 H>Q No gnomAD
rs2035719020 1402 H>Y No TOPMed
rs1213816191 1403 I>V No TOPMed
gnomAD
rs757356517 1407 L>P No ExAC
gnomAD
rs757356517 1407 L>R No ExAC
gnomAD
rs1261894228 1409 D>E No gnomAD
rs2035721261 1409 D>G No gnomAD
rs41527944 1410 Y>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1211781027
RCV001890815
1411 G>R No ClinVar
dbSNP
gnomAD
rs1254240956 1412 I>F No TOPMed
COSM3499753
rs558517232
COSM3499751
1413 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
gnomAD
COSM215599
rs763849093
1421 A>T central_nervous_system [Cosmic] No cosmic curated
ExAC
gnomAD
COSM2156666
COSM2156664
rs767219901
1424 V>M Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750184775 1425 E>G No ExAC
gnomAD
rs1296053613 1425 E>K No gnomAD
rs1038771788 1428 P>T No TOPMed
rs780131853 1429 G>A No ExAC
gnomAD
rs780131853 1429 G>D No ExAC
gnomAD
TCGA novel 1430 Y>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1326547383 1434 E>* No Ensembl
rs752860998 1434 E>A No ExAC
TOPMed
gnomAD
rs1348226308 1437 P>S No TOPMed
gnomAD
rs199787324
RCV001981432
1438 R>C No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs777857679 1438 R>H No ExAC
TOPMed
gnomAD
rs371409478 1439 I>V No ESP
ExAC
TOPMed
gnomAD
rs1157031419 1440 V>I No TOPMed
gnomAD
rs2035728059 1443 E>Q No Ensembl
rs771887826 1446 D>Y No ExAC
TOPMed
gnomAD
rs772974207 1447 M>I No ExAC
gnomAD
rs1443987546 1450 Y>C No TOPMed
gnomAD
rs1448841245 1452 M>I No TOPMed
gnomAD
rs2035840467 1452 M>T No gnomAD
rs61733306 1455 Y>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1408511714 1456 E>K No gnomAD
TCGA novel
rs2035842834
1462 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1330683300 1462 R>H No TOPMed
gnomAD
rs765212080 1463 P>A No ExAC
TOPMed
gnomAD
rs751661175 1464 A>V No ExAC
gnomAD
rs559486146 1468 H>Q No ExAC
TOPMed
gnomAD
rs756290924 1471 Q>H No ExAC
TOPMed
gnomAD
rs750667752 1471 Q>L No ExAC
TOPMed
gnomAD
rs780409265 1472 I>T No ExAC
TOPMed
gnomAD
rs2035844672 1474 K>E No TOPMed
rs1567276891 1475 K>N No TOPMed
gnomAD
rs1399409229 1478 K>N No gnomAD
rs755499854 1478 K>R No ExAC
TOPMed
gnomAD
COSM699621
COSM1646646
1480 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs377318134 1480 I>N No ESP
ExAC
TOPMed
gnomAD
COSM959638 1481 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs747660022 1481 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
RCV001965690
rs2035845790
1482 P>L No ClinVar
TOPMed
dbSNP
gnomAD
rs2035845790 1482 P>Q No TOPMed
gnomAD
rs2035846282 1485 G>R No TOPMed
rs201964335 1487 P>L No ESP
ExAC
TOPMed
gnomAD
rs1197526686 1488 E>K No gnomAD
rs1197526686 1488 E>Q No gnomAD
rs1246033369 1489 E>* No gnomAD
rs1277995966 1489 E>D No gnomAD
rs1201085096 1491 Q>K No 1000Genomes
gnomAD
rs367806940 1493 R>P No ESP
ExAC
TOPMed
gnomAD
rs367806940
RCV001906415
1493 R>Q No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs374925554 1493 R>W No ESP
ExAC
TOPMed
gnomAD
rs775480216 1494 R>L No ExAC
TOPMed
gnomAD
rs775480216 1494 R>P No ExAC
TOPMed
gnomAD
rs775480216 1494 R>Q No ExAC
TOPMed
gnomAD
rs1187939898 1495 L>M No gnomAD
rs2141144473 1496 Q>R No Ensembl
rs767617347
COSM171440
1497 A>V Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs756382869 1498 L>F No ExAC
gnomAD
rs376349366 1500 M>L No ESP
ExAC
TOPMed
gnomAD
rs755347885 1501 E>K No ExAC
gnomAD
rs1396270675 1502 C>* No TOPMed
gnomAD
rs2035849580 1503 W>* No TOPMed
rs779096886 1505 T>S No ExAC
gnomAD
rs1220993308 1507 P>S No gnomAD
rs1378059560 1510 R>* No TOPMed
gnomAD
rs1378059560 1510 R>G No TOPMed
gnomAD
rs2035912573 1510 R>Q No TOPMed
rs909700518 1511 P>L No TOPMed
gnomAD
rs749075771 1512 L>P No ExAC
gnomAD
rs749075771 1512 L>Q No ExAC
gnomAD
rs1349671116 1513 A>D No gnomAD
rs761689956 1516 V>A No ExAC
gnomAD
rs2035913766 1516 V>M No TOPMed
rs771073835 1517 V>M No ExAC
gnomAD
rs765366973 1518 S>R No ExAC
gnomAD
rs759816169 1518 S>T No ExAC
rs2035914868 1520 M>I No Ensembl
rs753181668 1521 K>M No ExAC
TOPMed
gnomAD
RCV001929237
rs753181668
1521 K>R No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs2035915220 1523 P>L No TOPMed
gnomAD
COSM4932196
COSM4932194
1525 F>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs764746962 1526 A>V No ExAC
gnomAD
TCGA novel 1527 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs369644113 1527 T>I No ESP
ExAC
TOPMed
gnomAD
RCV002010190
rs2141146629
1528 F>L No ClinVar
Ensembl
dbSNP
rs1436564385 1529 M>T No gnomAD
COSM2200724
COSM959640
1529 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2035916292 1530 Y>C No Ensembl
rs2141146653 1533 C>R No Ensembl
TCGA novel 1534 C>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2141146664 1534 C>Y No 1000Genomes
rs1347163852 1536 K>T No TOPMed
gnomAD
TCGA novel 1537 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1177495292 1538 T>A No TOPMed
gnomAD
rs2035917156 1539 A>V No TOPMed
rs377128940 1540 F>L No ESP
TOPMed
gnomAD
rs749127854 1540 F>S No ExAC
TOPMed
gnomAD
rs779646604 1540 F>V No ExAC
TOPMed
gnomAD
COSM4827086
COSM4827084
1542 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM282561 1543 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1345169860 1543 S>P No TOPMed
gnomAD
rs1373624280 1545 G>C No Ensembl
rs1373624280 1545 G>R No Ensembl
rs1465581413 1546 Q>R No gnomAD
rs1316812128 1547 E>D No TOPMed
gnomAD
rs754789492 1548 Y>N No ExAC
gnomAD
rs778638365 1549 T>A No ExAC
gnomAD
rs1378137531 1550 V>M No TOPMed
gnomAD
rs2035919622 1552 F>L No TOPMed
rs771844282 1554 D>N No ExAC
gnomAD
rs776831970 1556 K>E No ExAC
TOPMed
gnomAD
rs1567278927 1556 K>N No Ensembl
rs1335332740 1558 E>D No gnomAD
COSM699619
COSM1646645
1558 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs531262021 1559 S>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs778249403 1559 S>Y No gnomAD
COSM5178767
COSM1375696
1560 R>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs774839951 1563 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1357322729 1563 T>P No TOPMed
gnomAD
rs2036154581 1564 V>E No TOPMed
rs1364955563 1566 N>D No gnomAD
rs2036155502 1568 E>K No TOPMed
gnomAD
rs2036155635 1569 K>T No Ensembl
rs1220581195 1570 G>R No gnomAD
rs761200124 1571 L>F No ExAC
TOPMed
gnomAD
rs1288624627 1572 M>I No gnomAD
COSM6076713
COSM6076715
1572 M>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1214844164 1572 M>R No TOPMed
gnomAD
rs765878640 1572 M>V No ExAC
gnomAD
rs371591965 1574 V>L No ESP
TOPMed
gnomAD
rs371591965 1574 V>M No ESP
TOPMed
gnomAD
rs61733307 1577 M>I No ExAC
TOPMed
gnomAD
TCGA novel 1577 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1484972951 1578 C>Y No TOPMed
rs2036157220 1579 C>S No Ensembl
rs1194473412 1580 P>S No gnomAD
COSM1300963 1582 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1379874070 1582 M>L No TOPMed
gnomAD
rs1156549086 1583 K>N No gnomAD
rs752579784 1583 K>R No ExAC
gnomAD
RCV001955771
rs2141154262
1585 S>N No ClinVar
Ensembl
dbSNP
rs758106459 1585 S>R No ExAC
TOPMed
gnomAD
rs757198351 1587 Q>H No ExAC
TOPMed
gnomAD
rs1442511934 1589 Q>* No gnomAD
rs2141154307 1589 Q>R No Ensembl
rs749368396 1590 V>A No ExAC
TOPMed
gnomAD
rs2036159011 1590 V>I No TOPMed
gnomAD
rs2036159501 1591 Q>R No TOPMed
rs769036375 1593 S>C No ExAC
gnomAD
rs1311911108 1593 S>P No gnomAD
rs2036159888 1594 L>M No TOPMed
rs2141154365 1594 L>R No Ensembl
rs748349627 1597 A>G No ExAC
gnomAD
rs748349627 1597 A>V No ExAC
gnomAD
rs1214343969 1598 T>I No gnomAD
rs773558472 1599 E>K No ExAC
TOPMed
gnomAD
rs747368593 1600 D>H No ExAC
gnomAD
rs747368593 1600 D>N No ExAC
gnomAD
rs777102768 1601 Q>E No ExAC
gnomAD
RCV001910683
rs759987456
1601 Q>L No ClinVar
ExAC
dbSNP
gnomAD
rs759987456 1601 Q>R No ExAC
gnomAD
rs2141156873 1604 Y>H No Ensembl
rs779968095 1605 I>M No Ensembl
rs1253802771 1607 T>I No TOPMed
gnomAD
TCGA novel 1608 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2036250396 1608 L>V No TOPMed
rs1255284630 1612 C>S No TOPMed
gnomAD
rs761675199 1615 N>S No ExAC
gnomAD
rs2141156925 1616 T>A No Ensembl
rs1465226737 1616 T>I No gnomAD
rs1465226737 1616 T>K No gnomAD
rs767370051 1617 P>S No ExAC
gnomAD
rs2036251893 1618 Q>K No TOPMed
gnomAD
rs756045028 1619 Q>H No ExAC
gnomAD
rs2036252196 1619 Q>K No Ensembl
rs2141156955 1619 Q>R No Ensembl
rs765244575 1620 A>V No ExAC
gnomAD
rs1567285251 1621 L>W No Ensembl
TCGA novel 1622 D>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1000097370 1624 P>L No Ensembl
rs903026949 1624 P>S No TOPMed
gnomAD
rs753877975 1626 V>A No gnomAD
COSM4970009
COSM4970011
rs778024046
1627 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1033347216 1629 C>S No Ensembl
rs2036254147 1631 L>* No gnomAD
COSM5178768
COSM1375698
1632 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs552313052 1633 V>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs1484812789 1634 P>A No gnomAD
rs1567285333 1634 P>L No Ensembl
TCGA novel 1634 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2036255295 1635 V>A No Ensembl
rs932536919 1636 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
RCV001355138
rs746379912
1637 K>* No ClinVar
ExAC
dbSNP
gnomAD
rs746379912 1637 K>E No ExAC
gnomAD
COSM959642 1637 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs770281170 1637 K>R No ExAC
TOPMed
gnomAD
rs2036468764 1640 S>P No TOPMed
gnomAD
rs1471018022 1642 L>R No TOPMed
gnomAD
rs2036469044 1643 V>I No Ensembl
rs1359787858 1645 A>V No TOPMed
gnomAD
rs1412941091 1646 G>D No TOPMed
gnomAD
rs572219729 1648 A>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs572219729
RCV002014704
1648 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinVar
1000Genomes
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs764163827 1649 D>N No ExAC
TOPMed
gnomAD
rs1185932993 1651 L>P No Ensembl
rs762084426 1652 V>L No ExAC
gnomAD
rs767727219 1653 A>T No ExAC
TOPMed
gnomAD
rs750797544 1653 A>V No ExAC
TOPMed
gnomAD
rs76666049 1654 V>G No ExAC
gnomAD
rs754370308 1655 F>V No ExAC
gnomAD
rs74775581 1656 P>A No ExAC
gnomAD
rs74775581 1656 P>S No ExAC
gnomAD
TCGA novel 1657 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs200281447 1657 V>M No ExAC
TOPMed
gnomAD
rs370180202 1659 R>P No ESP
ExAC
TOPMed
gnomAD
rs370180202 1659 R>Q No ESP
ExAC
TOPMed
gnomAD
COSM4053507
COSM4053505
rs1015630432
1659 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs770791811 1660 G>A No ExAC
TOPMed
gnomAD
TCGA novel 1660 G>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs770791811
RCV001998392
1660 G>D No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1412835234 1660 G>S No gnomAD
rs1596359228 1661 T>A No Ensembl
rs769709976 1661 T>N No ExAC
gnomAD
rs1596359228 1661 T>P No Ensembl
rs373755921 1662 P>L No ESP
ExAC
gnomAD
rs570984561 1664 D>N No Ensembl
rs1484921427 1665 S>C No gnomAD
rs1484921427 1665 S>G No gnomAD
rs1190652512 1665 S>R No TOPMed
gnomAD
rs750686458 1666 C>Y No ExAC
gnomAD
rs760737980 1667 S>F No ExAC
TOPMed
gnomAD
rs760737980 1667 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2036475933 1668 Y>* No Ensembl
rs2036475790 1668 Y>S No gnomAD
rs2141163286
RCV001929049
1670 C>G No ClinVar
Ensembl
dbSNP
rs2141163286 1670 C>S No Ensembl
COSM1375700
COSM5130294
1670 C>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1302269451 1671 S>* No TOPMed
gnomAD
rs371053735 1671 S>T No ESP
ExAC
TOPMed
gnomAD
rs555149433 1672 H>Q No TOPMed
gnomAD
rs375652666 1672 H>R No ESP
ExAC
TOPMed
gnomAD
rs779529883 1674 A>T No ExAC
gnomAD
rs2036476787 1676 R>S No TOPMed
rs1356555427 1677 S>F No TOPMed
rs2036477041 1678 K>R No TOPMed
TCGA novel 1679 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2036477334 1680 S>N No Ensembl
COSM959646
rs777107638
1682 A>T Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
RCV001904355
rs368322542
1682 A>V No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs745649117 1683 D>Y No ExAC
gnomAD
rs1166044505 1685 D>G No TOPMed
rs370749356 1686 A>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs370749356 1686 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772139995 1687 R>Q No ExAC
TOPMed
gnomAD
rs373893782 1687 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1213403128 1689 N>I No TOPMed
gnomAD
rs1281510100 1690 P>L No gnomAD
rs2036479949 1691 Y>C No Ensembl
rs2036479708 1691 Y>H No Ensembl
rs2036480477 1694 K>Q No Ensembl
rs2036480943 1696 M>I No Ensembl
rs957642850 1696 M>T No TOPMed
rs189062191 1700 N>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs189062191 1700 N>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs913687680 1702 G>D No Ensembl
COSM1735675
RCV002088628
rs78605716
1702 G>S pancreas [Cosmic] No cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs372292557
RCV002026000
1703 S>Y No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1400025585 1705 V>I No gnomAD
rs1596359545 1710 G>E No Ensembl
rs758909087 1711 P>L No ExAC
gnomAD
rs1316190212 1711 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs751022115 1715 V>I No ExAC
TOPMed
gnomAD
rs2036483848 1717 D>A No TOPMed
gnomAD
rs780680269 1717 D>N No ExAC
TOPMed
gnomAD
rs745716119 1718 C>F No ExAC
rs1304619504 1719 A>T No gnomAD
rs2036484338 1719 A>V No Ensembl
rs76740676 1720 S>P No Ensembl
rs1222535802 1724 C>S No gnomAD
rs2036485106 1725 R>G No TOPMed
rs779753081 1726 R>L No ExAC
gnomAD
rs779753081 1726 R>Q No ExAC
gnomAD
rs77374252 1726 R>W No Ensembl
rs2141163568 1727 L>V No Ensembl
rs2141163581 1728 E>G No Ensembl
rs1194569505 1730 Y>* No TOPMed
gnomAD
rs374196433 1730 Y>C No ESP
ExAC
gnomAD
rs2141163590 1730 Y>H No Ensembl
rs771231472 1731 M>T No ExAC
gnomAD
COSM4932755
COSM4932757
rs921178428
1731 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1469472150 1732 A>V No gnomAD
rs2141163629 1733 P>S No Ensembl
rs775143193 1735 M>I No TOPMed
gnomAD
rs765702635 1735 M>T No ExAC
TOPMed
gnomAD
rs3829706
RCV000879392
1735 M>V No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1391730839 1737 T>A No gnomAD
COSM1640190
rs939725500
COSM1640192
1737 T>M Variant assessed as Somatic; MODERATE impact. stomach [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs2036487593 1738 S>* No gnomAD
COSM959650
rs763615713
1740 V>M endometrium [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs549997085 1741 C>* No 1000Genomes
ExAC
gnomAD
rs1228022677 1742 S>N No TOPMed
rs1351947491 1742 S>R No gnomAD
rs1348798423 1744 E>G No TOPMed
gnomAD
rs751124500 1744 E>K No ExAC
gnomAD
rs756702653 1745 G>C No ExAC
TOPMed
gnomAD
rs1337102657 1745 G>D No gnomAD
rs756702653 1745 G>S No ExAC
TOPMed
gnomAD
rs2036489109 1747 G>R No Ensembl
rs1390431435 1748 E>K No TOPMed
rs750110863 1748 E>V No ExAC
rs755701846 1750 V>F No ExAC
TOPMed
gnomAD
rs755701846 1750 V>I No ExAC
TOPMed
gnomAD
rs754980135 1751 V>G No ExAC
gnomAD
rs373452117 1751 V>I No ESP
ExAC
TOPMed
gnomAD
rs1036301171 1752 W>L No TOPMed
rs1409394167 1754 L>M No TOPMed
gnomAD
rs1023161317 1756 D>N No Ensembl
rs1165040188 1757 K>Q No gnomAD
rs766954384 1759 N>S No TOPMed
rs766954384 1759 N>T No TOPMed
rs2141163805 1760 S>A No Ensembl
rs770946839 1760 S>Y No ExAC
TOPMed
gnomAD
rs1331291177 1761 L>F No gnomAD
rs373287839 1763 M>L No ESP
ExAC
TOPMed
gnomAD
rs770129962 1763 M>T No ExAC
gnomAD
rs1003141890 1766 S>F No Ensembl
rs1357947247 1767 T>I No TOPMed
gnomAD
rs763381102 1768 T>A No ExAC
gnomAD
rs763381102 1768 T>P No ExAC
gnomAD
rs2141163866 1768 T>S No Ensembl
TCGA novel 1770 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs762344317 1770 Q>R No ExAC
TOPMed
gnomAD
rs2036493750 1771 L>P No gnomAD
rs2036494044 1773 A>G No TOPMed
gnomAD
rs2036494044 1773 A>V No TOPMed
gnomAD
rs201726240 1774 R>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs749917918 1777 C>W No ExAC
TOPMed
gnomAD
rs146084570 1778 G>R No 1000Genomes
ExAC
gnomAD
rs3764738
RCV002210770
1779 V>D No ClinVar
1000Genomes
ExAC
dbSNP
gnomAD
rs751445121 1779 V>F No ExAC
TOPMed
gnomAD
rs779167127 1780 P>S No ExAC
gnomAD
rs1299597590 1781 S>T No Ensembl
rs2141163958 1784 R>G No Ensembl
rs1397616623 1784 R>T No gnomAD
COSM5135565
COSM1375702
1786 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2036496378 1786 M>T No TOPMed
gnomAD
TCGA novel 1786 M>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs745940472 1789 V>A No ExAC
gnomAD
rs536296948 1789 V>L No 1000Genomes
ExAC
TOPMed
gnomAD
COSM470423
rs536296948
1789 V>M kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs749481480 1790 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs780403978 1790 R>W No ExAC
TOPMed
gnomAD
rs768937350 1791 P>S No ExAC
gnomAD
rs2036497816 1793 D>V No gnomAD
rs1270951065 1793 D>Y No TOPMed
gnomAD
rs368408781 1794 T>A No ESP
ExAC
TOPMed
gnomAD
RCV001997559
rs772559934
1794 T>M No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs368408781 1794 T>P No ESP
ExAC
TOPMed
gnomAD
rs1596360339 1795 E>D No Ensembl
rs753519057
RCV002016988
1797 P>L No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1333712810 1797 P>S No gnomAD
TCGA novel 1798 A>G Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs764953988 1798 A>T No ExAC
gnomAD
rs752524474 1802 T>M No ExAC
TOPMed
gnomAD
rs752524474 1802 T>R No ExAC
TOPMed
gnomAD
VAR_040674 1803 A>T No UniProt
rs912178976 1804 N>D No gnomAD
rs200557780 1804 N>K No TOPMed
gnomAD
rs750583241 1804 N>S No ExAC
gnomAD
rs199974382 1805 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1485930820 1807 V>A No gnomAD
COSM4833774
COSM4833776
rs749480379
1809 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs2036501336 1810 G>E No gnomAD
rs2036501221 1810 G>R No gnomAD
rs1319081084 1811 D>Y No TOPMed
gnomAD
rs768906258 1812 S>P No ExAC
TOPMed
gnomAD
rs35787282
RCV002135663
1814 A>T No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1349850721 1814 A>V No gnomAD
rs2036502391 1815 D>Y No TOPMed
rs377185660
RCV001940229
1816 V>M No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2036502966 1817 S>T No Ensembl
rs1248109013 1818 I>V No TOPMed
gnomAD
rs1455010578 1819 M>I No gnomAD
rs764939883 1819 M>T No ExAC
TOPMed
gnomAD
COSM959652
rs368591954
1819 M>V Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2141164235 1820 Y>* No Ensembl
rs1158867051 1821 S>G No TOPMed
gnomAD
VAR_040675 1824 L>F No UniProt
rs2141164255 1824 L>R No Ensembl
rs775190189 1826 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1372045084 1830 I>M No gnomAD
rs542657977 1830 I>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1441885748 1831 H>Q No TOPMed
gnomAD
rs1387083676 1831 H>Y No TOPMed
gnomAD
rs757198165 1832 Q>E No ExAC
TOPMed
gnomAD
RCV000953700
rs35128996
1835 L>F No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs755191615 1837 D>H No ExAC
TOPMed
gnomAD
rs755191615 1837 D>N No ExAC
TOPMed
gnomAD
rs1483594310 1839 C>G No TOPMed
rs779170016 1841 M>T No ExAC
TOPMed
gnomAD
rs2036506840 1841 M>V No Ensembl
rs1254447279 1842 S>Y No TOPMed
gnomAD
rs1359017884 1844 Y>N No TOPMed
rs1285277039 1845 S>Y No TOPMed
rs201730508 1846 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
VAR_040676 1847 S>N No UniProt
rs968761875 1849 P>R No TOPMed
rs1021604666 1849 P>S No gnomAD
RCV000893714
rs41525944
1850 R>C No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM554333
rs200771530
RCV002143539
1850 R>H lung [Cosmic] No cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs200771530 1850 R>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs41525944 1850 R>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1167224033 1852 A>P No TOPMed
gnomAD
rs776071685 1853 A>S No ExAC
TOPMed
gnomAD
rs776071685 1853 A>T No ExAC
TOPMed
gnomAD
rs769383028 1854 R>S No ExAC
TOPMed
gnomAD
rs2036509650 1854 R>T No TOPMed
rs61733308 1855 S>A No TOPMed
gnomAD
RCV001997772
rs2141164457
1855 S>C No ClinVar
Ensembl
dbSNP
rs61733308 1855 S>P No TOPMed
gnomAD
rs61733308 1855 S>T No TOPMed
gnomAD
rs1393040389 1856 P>L No gnomAD
rs1393040389 1856 P>R No gnomAD
rs1415696374 1857 S>T No TOPMed
rs34874770
RCV002191681
1858 S>N No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1251572799 1860 P>S No TOPMed
gnomAD
rs774234138 1861 S>G No ExAC
rs761904263 1861 S>I No ExAC
TOPMed
gnomAD
rs767454605 1863 P>S No ExAC
gnomAD
rs753910283 1864 A>P No ExAC
gnomAD
rs1381987505 1865 S>G No gnomAD
rs1396906691 1868 S>T No gnomAD
TCGA novel 1869 V>A Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2036512516 1869 V>M No TOPMed
rs758557491 1870 P>L No ExAC
rs752966389 1870 P>S No ExAC
gnomAD
TCGA novel 1871 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs778168227 1873 T>S No ExAC
gnomAD
rs565686156 1874 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1414704844 1875 C>F No TOPMed
gnomAD
rs1414704844 1875 C>Y No TOPMed
gnomAD
rs769380465 1876 E>G No ExAC
TOPMed
gnomAD
rs369774424
RCV001974779
1876 E>K No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs931027800 1879 D>E No TOPMed
gnomAD
rs1463294287 1880 M>K No gnomAD
rs373539914 1881 L>R No ESP
TOPMed
rs2036515093 1883 T>A No Ensembl
rs3764740 1883 T>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs3764740 1883 T>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1214470436 1884 P>S No gnomAD
rs2141164642 1885 G>D No Ensembl
rs377202593 1885 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1175694807 1886 A>V No TOPMed
COSM470425 1888 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1292951232 1889 D>E No gnomAD
rs770606570 1889 D>N No ExAC
TOPMed
gnomAD
rs760461091 1893 H>N No ExAC
TOPMed
gnomAD
rs1206245367 1893 H>R No gnomAD
rs760461091 1893 H>Y No ExAC
TOPMed
gnomAD
rs1484972583 1896 T>I No gnomAD
rs763228498 1897 P>L No ExAC
gnomAD
rs370127139 1897 P>S No ESP
ExAC
TOPMed
gnomAD
rs370127139 1897 P>T No ESP
ExAC
TOPMed
gnomAD
TCGA novel 1898 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs764270132 1898 M>T No ExAC
gnomAD
rs1475147925 1898 M>V No TOPMed
gnomAD
rs367810590 1899 D>E No ESP
ExAC
TOPMed
gnomAD
TCGA novel
rs2036519004
1899 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs537362756 1900 G>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs2036519586 1901 E>D No TOPMed
rs756523500 1901 E>G No ExAC
gnomAD
rs558418183 1901 E>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs558418183 1901 E>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs1432762901 1902 T>I No gnomAD
rs779676368
RCV002048897
1903 F>C No ClinVar
ExAC
TOPMed
dbSNP
gnomAD
rs1359707750 1904 S>R No gnomAD
rs748772285 1905 Q>* No ExAC
gnomAD
rs778727638 1905 Q>H No ExAC
TOPMed
gnomAD
rs768468458 1905 Q>P No ExAC
TOPMed
gnomAD
rs1322423534 1909 A>G No TOPMed
rs2036520882 1909 A>P No TOPMed
gnomAD
COSM2200812
COSM1375704
1909 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs372723036 1910 V>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1237101451 1912 I>L No gnomAD
rs772824076 1912 I>M No ExAC
TOPMed
gnomAD
rs770769016 1914 A>T No ExAC
TOPMed
gnomAD
rs745598708 1914 A>V No TOPMed
gnomAD
rs775588013
COSM199343
1915 V>I Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs775588013 1915 V>L No ExAC
TOPMed
gnomAD
rs1252115722 1919 I>L No gnomAD
rs1252115722 1919 I>V No gnomAD
rs762998404 1921 V>I No ExAC
gnomAD
rs2036522856 1922 P>R No TOPMed
rs961288295 1922 P>S No Ensembl
rs2036522984 1923 R>K No TOPMed
COSM3815689
COSM3815687
1923 R>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2141164860 1923 R>W No Ensembl
COSM1678714
rs780922727
1924 R>C large_intestine [Cosmic] No cosmic curated
ExAC
gnomAD
COSM4053508
rs1472884841
COSM959658
1924 R>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs1472884841 1924 R>P No gnomAD
rs774451516 1925 G>D No ExAC
TOPMed
gnomAD
rs369056591 1925 G>S No ESP
ExAC
TOPMed
gnomAD
VAR_040677 1927 D>G No UniProt
rs2036547989 1927 D>H No gnomAD
TCGA novel 1928 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2036548207 1929 I>V No Ensembl
rs201481845 1930 V>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs201481845 1930 V>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1257955496 1931 I>V No TOPMed
gnomAD
rs200916884 1934 E>K No gnomAD
rs200916884 1934 E>Q No gnomAD
rs944767940 1935 K>E No TOPMed
gnomAD
rs1291492431 1936 D>Y No gnomAD
rs2924835
RCV001652123
1938 G>D No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV002075507
rs386787404
1938 G>E No ClinVar
Ensembl
dbSNP
COSM4053511
COSM4053509
rs765835793
1939 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs752310046 1940 Q>R No ExAC
gnomAD
rs753312283 1941 R>L No ExAC
TOPMed
gnomAD
rs753312283 1941 R>P No ExAC
TOPMed
gnomAD
COSM5507036
rs753312283
COSM5507034
1941 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
RCV002140868
rs373695236
1941 R>W No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 1942 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs756852396 1943 R>* No ExAC
gnomAD
rs756852396 1943 R>G No ExAC
gnomAD
RCV001917793
rs376808685
1943 R>Q No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs375414450
RCV002041286
1947 V>I No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs375414450 1947 V>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs772079009 1949 K>E No ExAC
gnomAD
rs1296137445 1951 R>* No gnomAD
rs777863487 1951 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
COSM959660
rs771248375
1955 P>L Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1396628347 1956 H>R No gnomAD
rs773797200 1958 V>M No ExAC
gnomAD
rs766950839 1960 V>L No ExAC
TOPMed
gnomAD
rs766950839 1960 V>M No ExAC
TOPMed
gnomAD
rs2036666358 1963 A>T No TOPMed
RCV001914323
rs371594206
1964 V>M No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM6141643
COSM6141645
1965 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1227064013 1965 V>M No gnomAD
TCGA novel 1966 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1484313302 1967 K>* No gnomAD
RCV002030757
rs200845343
1968 D>N No ClinVar
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs765208232 1972 C>Y No ExAC
gnomAD
rs752623884 1973 T>I No ExAC
gnomAD
rs1183697480 1974 F>V No gnomAD
rs1414732689 1975 E>D No gnomAD
rs916569957 1979 T>A No TOPMed
rs1160827713 1980 E>D No Ensembl
rs757416596 1980 E>Q No ExAC
gnomAD
COSM1608139
rs781380711
1982 C>Y liver [Cosmic] No cosmic curated
ExAC
gnomAD
rs1431526955 1984 A>T No gnomAD
rs1445097736 1985 V>A No gnomAD
rs200452795
RCV002024899
1985 V>I No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs200452795 1985 V>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2036669580 1987 R>K No Ensembl
rs999534552 1988 G>S No gnomAD
rs551580410 1991 A>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs769097011 1991 A>V No ExAC
gnomAD
rs1596367302 1994 F>V No Ensembl
rs748618009 1995 D>H No ExAC
TOPMed
gnomAD
rs748618009 1995 D>N No ExAC
TOPMed
gnomAD
rs200799960 1996 I>V No 1000Genomes
ExAC
gnomAD
rs760287550 1998 Y>H No ExAC
TOPMed
gnomAD
rs2036671093 1999 Q>H No TOPMed
rs2036671208 2000 S>F No Ensembl
COSM1158163
rs983155331
2002 E>D pancreas [Cosmic] No cosmic curated
Ensembl
rs3752321 2002 E>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs3752321 2002 E>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1451056831 2005 G>S No gnomAD
TCGA novel 2006 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs377568599 2006 R>Q No ESP
ExAC
TOPMed
gnomAD
rs373483365 2006 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1452560841 2009 A>D No gnomAD
rs2036673118 2009 A>T No Ensembl
rs1452560841 2009 A>V No gnomAD
RCV002001211
rs780306812
2012 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ClinVar
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs370159409 2012 R>H No ESP
ExAC
TOPMed
gnomAD
rs370159409 2012 R>L No ESP
ExAC
TOPMed
gnomAD
rs748705944 2013 K>Q No ExAC
gnomAD
rs1209685115 2014 R>I No TOPMed
rs1209685115 2014 R>K No TOPMed
rs1596367537 2016 R>E No Ensembl
rs1360508923 2016 R>L No TOPMed
gnomAD

1 associated diseases with Q38SD2

[MIM: 615198]: Osteosclerotic metaphyseal dysplasia (OSMD)

An autosomal recessive skeletal dysplasia characterized by osteosclerosis at multiple skeletal sites, predominantly at the metaphyses of the long bones and vertebral bodies. . Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID
  • An autosomal recessive skeletal dysplasia characterized by osteosclerosis at multiple skeletal sites, predominantly at the metaphyses of the long bones and vertebral bodies. . Note=The disease is caused by variants affecting the gene represented in this entry.

8 regional properties for Q38SD2

Type Name Position InterPro Accession
domain C2 domain 1 - 98 IPR000008-1
domain C2 domain 668 - 794 IPR000008-2
domain C2 domain 1535 - 1664 IPR000008-3
domain Protein kinase C-like, phorbol ester/diacylglycerol-binding domain 562 - 612 IPR002219
domain MUN domain 1002 - 1521 IPR010439
domain Munc13 homology 1 1102 - 1245 IPR014770
domain Mammalian uncoordinated homology 13, domain 2 1354 - 1521 IPR014772
domain Protein Unc-13, C2B domain 685 - 811 IPR037302

Functions

Description
EC Number 2.7.11.1 Protein-serine/threonine kinases
Subcellular Localization
  • Cytoplasm
PANTHER Family PTHR48055 LEUCINE-RICH REPEAT RECEPTOR PROTEIN KINASE EMS1
PANTHER Subfamily PTHR48055:SF13 LEUCINE-RICH REPEAT SERINE_THREONINE-PROTEIN KINASE 1
PANTHER Protein Class transmembrane signal receptor
PANTHER Pathway Category No pathway information available

2 GO annotations of cellular component

Name Definition
cytosol The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
mitochondrion A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration.

6 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
GTP binding Binding to GTP, guanosine triphosphate.
identical protein binding Binding to an identical protein or proteins.
metal ion binding Binding to a metal ion.
protein serine kinase activity Catalysis of the reactions
protein serine/threonine kinase activity Catalysis of the reactions

8 GO annotations of biological process

Name Definition
bone resorption The process in which specialized cells known as osteoclasts degrade the organic and inorganic portions of bone, and endocytose and transport the degradation products.
intracellular signal transduction The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell.
negative regulation of peptidyl-tyrosine phosphorylation Any process that stops, prevents, or reduces the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine.
osteoclast development The process whose specific outcome is the progression of a osteoclast from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. An osteoclast is a specialized phagocytic cell associated with the absorption and removal of the mineralized matrix of bone tissue.
phosphorylation The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide.
positive regulation of canonical Wnt signaling pathway Any process that increases the rate, frequency, or extent of the Wnt signaling pathway through beta-catenin, the series of molecular signals initiated by binding of a Wnt protein to a frizzled family receptor on the surface of the target cell, followed by propagation of the signal via beta-catenin, and ending with a change in transcription of target genes.
positive regulation of intracellular signal transduction Any process that activates or increases the frequency, rate or extent of intracellular signal transduction.
positive regulation of peptidyl-tyrosine phosphorylation Any process that activates or increases the frequency, rate or extent of the phosphorylation of peptidyl-tyrosine.

74 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
A2VDU3 MAP3K7 Mitogen-activated protein kinase kinase kinase 7 Bos taurus (Bovine) SS
Q4TVR5 DSTYK Dual serine/threonine and tyrosine protein kinase Bos taurus (Bovine) PR
Q3SZJ2 RIPK2 Receptor-interacting serine/threonine-protein kinase 2 Bos taurus (Bovine) PR
Q3MHH9 ECM2 Extracellular matrix protein 2 Bos taurus (Bovine) PR
P58874 OPTC Opticin Bos taurus (Bovine) PR
Q24K06 LRRC10 Leucine-rich repeat-containing protein 10 Bos taurus (Bovine) PR
Q6XUX0 DSTYK Dual serine/threonine and tyrosine protein kinase Gallus gallus (Chicken) PR
P83104 Takl1 Putative mitogen-activated protein kinase kinase kinase 7-like Drosophila melanogaster (Fruit fly) PR
Q95UN8 slpr Mitogen-activated protein kinase kinase kinase Drosophila melanogaster (Fruit fly) EV
Q9V780 Lap1 Protein lap1 Drosophila melanogaster (Fruit fly) PR
O43353 RIPK2 Receptor-interacting serine/threonine-protein kinase 2 Homo sapiens (Human) PR
Q02779 MAP3K10 Mitogen-activated protein kinase kinase kinase 10 Homo sapiens (Human) SS
Q8NB16 MLKL Mixed lineage kinase domain-like protein Homo sapiens (Human) EV
Q16584 MAP3K11 Mitogen-activated protein kinase kinase kinase 11 Homo sapiens (Human) EV
P00540 MOS Proto-oncogene serine/threonine-protein kinase mos Homo sapiens (Human) PR
Q5TCX8 MAP3K21 Mitogen-activated protein kinase kinase kinase 21 Homo sapiens (Human) PR
Q6XUX3 DSTYK Dual serine/threonine and tyrosine protein kinase Homo sapiens (Human) PR
O43318 MAP3K7 Mitogen-activated protein kinase kinase kinase 7 Homo sapiens (Human) SS
Q9NYL2 MAP3K20 Mitogen-activated protein kinase kinase kinase 20 Homo sapiens (Human) PR
P80192 MAP3K9 Mitogen-activated protein kinase kinase kinase 9 Homo sapiens (Human) SS
Q96NW7 LRRC7 Leucine-rich repeat-containing protein 7 Homo sapiens (Human) PR
Q8IWT6 LRRC8A Volume-regulated anion channel subunit LRRC8A Homo sapiens (Human) PR
Q9HCJ2 LRRC4C Leucine-rich repeat-containing protein 4C Homo sapiens (Human) PR
Q9UFC0 LRWD1 Leucine-rich repeat and WD repeat-containing protein 1 Homo sapiens (Human) PR
Q96L50 LRR1 Leucine-rich repeat protein 1 Homo sapiens (Human) PR
Q86UN2 RTN4RL1 Reticulon-4 receptor-like 1 Homo sapiens (Human) PR
Q8IWK6 ADGRA3 Adhesion G protein-coupled receptor A3 Homo sapiens (Human) PR
Q7L1W4 LRRC8D Volume-regulated anion channel subunit LRRC8D Homo sapiens (Human) PR
Q96FE5 LINGO1 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 Homo sapiens (Human) PR
Q8TDW0 LRRC8C Volume-regulated anion channel subunit LRRC8C Homo sapiens (Human) PR
Q80XI6 Map3k11 Mitogen-activated protein kinase kinase kinase 11 Mus musculus (Mouse) PR
Q8VDG6 Map3k21 Mitogen-activated protein kinase kinase kinase 21 Mus musculus (Mouse) PR
P58801 Ripk2 Receptor-interacting serine/threonine-protein kinase 2 Mus musculus (Mouse) PR
Q62073 Map3k7 Mitogen-activated protein kinase kinase kinase 7 Mus musculus (Mouse) EV
Q3U1V8 Map3k9 Mitogen-activated protein kinase kinase kinase 9 Mus musculus (Mouse) SS
Q9D2Y4 Mlkl Mixed lineage kinase domain-like protein Mus musculus (Mouse) SS
Q9ESL4 Map3k20 Mitogen-activated protein kinase kinase kinase 20 Mus musculus (Mouse) PR
P00536 Mos Proto-oncogene serine/threonine-protein kinase mos Mus musculus (Mouse) PR
Q66L42 Map3k10 Mitogen-activated protein kinase kinase kinase 10 Mus musculus (Mouse) SS
A6H694 Lrrc63 Leucine-rich repeat-containing protein 63 Mus musculus (Mouse) PR
Q9D9Q0 Lrrc69 Leucine-rich repeat-containing protein 69 Mus musculus (Mouse) PR
Q8BGI7 Lrrc39 Leucine-rich repeat-containing protein 39 Mus musculus (Mouse) PR
Q7TT36 Adgra3 Adhesion G protein-coupled receptor A3 Mus musculus (Mouse) PR
P59383 Lrrn4 Leucine-rich repeat neuronal protein 4 Mus musculus (Mouse) PR
Q9D1T0 Lingo1 Leucine-rich repeat and immunoglobulin-like domain-containing nogo receptor-interacting protein 1 Mus musculus (Mouse) PR
Q8R502 Lrrc8c Volume-regulated anion channel subunit LRRC8C Mus musculus (Mouse) PR
Q80WG5 Lrrc8a Volume-regulated anion channel subunit LRRC8A Mus musculus (Mouse) PR
Q8K0S5 Rtn4rl1 Reticulon-4 receptor-like 1 Mus musculus (Mouse) PR
Q80TE7 Lrrc7 Leucine-rich repeat-containing protein 7 Mus musculus (Mouse) PR
Q5DU41 Lrrc8b Volume-regulated anion channel subunit LRRC8B Mus musculus (Mouse) PR
Q5RKR3 Islr2 Immunoglobulin superfamily containing leucine-rich repeat protein 2 Mus musculus (Mouse) PR
Q8C031 Lrrc4c Leucine-rich repeat-containing protein 4C Mus musculus (Mouse) PR
P0C8E4 Map3k7 Mitogen-activated protein kinase kinase kinase 7 Rattus norvegicus (Rat) SS
Q66HA1 Map3k11 Mitogen-activated protein kinase kinase kinase 11 Rattus norvegicus (Rat) PR
D3ZG83 Map3k10 Mitogen-activated protein kinase kinase kinase 10 Rattus norvegicus (Rat) SS
P00539 Mos Proto-oncogene serine/threonine-protein kinase mos Rattus norvegicus (Rat) PR
P70587 Lrrc7 Leucine-rich repeat-containing protein 7 Rattus norvegicus (Rat) PR
Q4V8G0 Lrrc63 Leucine-rich repeat-containing protein 63 Rattus norvegicus (Rat) PR
Q80WD0 Rtn4rl1 Reticulon-4 receptor-like 1 Rattus norvegicus (Rat) PR
Q9TZM3 lrk-1 Leucine-rich repeat serine/threonine-protein kinase 1 Caenorhabditis elegans SS
Q9FPR3 EDR1 Serine/threonine-protein kinase EDR1 Arabidopsis thaliana (Mouse-ear cress) PR
Q2MHE4 HT1 Serine/threonine/tyrosine-protein kinase HT1 Arabidopsis thaliana (Mouse-ear cress) PR
O22558 STY8 Serine/threonine-protein kinase STY8 Arabidopsis thaliana (Mouse-ear cress) PR
Q8RWL6 STY17 Serine/threonine-protein kinase STY17 Arabidopsis thaliana (Mouse-ear cress) PR
F4JTP5 STY46 Serine/threonine-protein kinase STY46 Arabidopsis thaliana (Mouse-ear cress) PR
Q05609 CTR1 Serine/threonine-protein kinase CTR1 Arabidopsis thaliana (Mouse-ear cress) PR
Q9SHI4 RLP3 Receptor-like protein 3 Arabidopsis thaliana (Mouse-ear cress) SS
Q5G5E0 PIRL5 Plant intracellular Ras-group-related LRR protein 5 Arabidopsis thaliana (Mouse-ear cress) PR
C0LGE4 At1g12460 Probable LRR receptor-like serine/threonine-protein kinase At1g12460 Arabidopsis thaliana (Mouse-ear cress) PR
Q0WR59 At5g10020 Probable inactive receptor kinase At5g10020 Arabidopsis thaliana (Mouse-ear cress) PR
Q67E00 dstyk Dual serine/threonine and tyrosine protein kinase Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
B0JZ65 lrwd1 Leucine-rich repeat and WD repeat-containing protein 1 Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
Q68F79 lrrc8e Volume-regulated anion channel subunit LRRC8E Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) PR
B0R160 lrwd1 Leucine-rich repeat and WD repeat-containing protein 1 Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MAGMSQRPPS MYWCVGPEES AVCPERAMET LNGAGDTGGK PSTRGGDPAA RSRRTEGIRA
70 80 90 100 110 120
AYRRGDRGGA RDLLEEACDQ CASQLEKGQL LSIPAAYGDL EMVRYLLSKR LVELPTEPTD
130 140 150 160 170 180
DNPAVVAAYF GHTAVVQELL ESLPGPCSPQ RLLNWMLALA CQRGHLGVVK LLVLTHGADP
190 200 210 220 230 240
ESYAVRKNEF PVIVRLPLYA AIKSGNEDIA IFLLRHGAYF CSYILLDSPD PSKHLLRKYF
250 260 270 280 290 300
IEASPLPSSY PGKTALRVKW SHLRLPWVDL DWLIDISCQI TELDLSANCL ATLPSVIPWG
310 320 330 340 350 360
LINLRKLNLS DNHLGELPGV QSSDEIICSR LLEIDISSNK LSHLPPGFLH LSKLQKLTAS
370 380 390 400 410 420
KNCLEKLFEE ENATNWIGLR KLQELDISDN KLTELPALFL HSFKSLNSLN VSRNNLKVFP
430 440 450 460 470 480
DPWACPLKCC KASRNALECL PDKMAVFWKN HLKDVDFSEN ALKEVPLGLF QLDALMFLRL
490 500 510 520 530 540
QGNQLAALPP QEKWTCRQLK TLDLSRNQLG KNEDGLKTKR IAFFTTRGRQ RSGTEAASVL
550 560 570 580 590 600
EFPAFLSESL EVLCLNDNHL DTVPPSVCLL KSLSELYLGN NPGLRELPPE LGQLGNLWQL
610 620 630 640 650 660
DTEDLTISNV PAEIQKEGPK AMLSYLRAQL RKAEKCKLMK MIIVGPPRQG KSTLLEILQT
670 680 690 700 710 720
GRAPQVVHGE ATIRTTKWEL QRPAGSRAKV ESVEFNVWDI GGPASMATVN QCFFTDKALY
730 740 750 760 770 780
VVVWNLALGE EAVANLQFWL LNIEAKAPNA VVLVVGTHLD LIEAKFRVER IATLRAYVLA
790 800 810 820 830 840
LCRSPSGSRA TGFPDITFKH LHEISCKSLE GQEGLRQLIF HVTCSMKDVG STIGCQRLAG
850 860 870 880 890 900
RLIPRSYLSL QEAVLAEQQR RSRDDDVQYL TDRQLEQLVE QTPDNDIKDY EDLQSAISFL
910 920 930 940 950 960
IETGTLLHFP DTSHGLRNLY FLDPIWLSEC LQRIFNIKGS RSVAKNGVIR AEDLRMLLVG
970 980 990 1000 1010 1020
TGFTQQTEEQ YFQFLAKFEI ALPVANDSYL LPHLLPSKPG LDTHGMRHPT ANTIQRVFKM
1030 1040 1050 1060 1070 1080
SFVPVGFWQR FIARMLISLA EMDLQLFENK KNTKSRNRKV TIYSFTGNQR NRCSTFRVKR
1090 1100 1110 1120 1130 1140
NQTIYWQEGL LVTFDGGYLS VESSDVNWKK KKSGGMKIVC QSEVRDFSAM AFITDHVNSL
1150 1160 1170 1180 1190 1200
IDQWFPALTA TESDGTPLME QYVPCPVCET AWAQHTDPSE KSEDVQYFDM EDCVLTAIER
1210 1220 1230 1240 1250 1260
DFISCPRHPD LPVPLQELVP ELFMTDFPAR LFLENSKLEH SEDEGSVLGQ GGSGTVIYRA
1270 1280 1290 1300 1310 1320
RYQGQPVAVK RFHIKKFKNF ANVPADTMLR HLRATDAMKN FSEFRQEASM LHALQHPCIV
1330 1340 1350 1360 1370 1380
ALIGISIHPL CFALELAPLS SLNTVLSENA RDSSFIPLGH MLTQKIAYQI ASGLAYLHKK
1390 1400 1410 1420 1430 1440
NIIFCDLKSD NILVWSLDVK EHINIKLSDY GISRQSFHEG ALGVEGTPGY QAPEIRPRIV
1450 1460 1470 1480 1490 1500
YDEKVDMFSY GMVLYELLSG QRPALGHHQL QIAKKLSKGI RPVLGQPEEV QFRRLQALMM
1510 1520 1530 1540 1550 1560
ECWDTKPEKR PLALSVVSQM KDPTFATFMY ELCCGKQTAF FSSQGQEYTV VFWDGKEESR
1570 1580 1590 1600 1610 1620
NYTVVNTEKG LMEVQRMCCP GMKVSCQLQV QRSLWTATED QKIYIYTLKG MCPLNTPQQA
1630 1640 1650 1660 1670 1680
LDTPAVVTCF LAVPVIKKNS YLVLAGLADG LVAVFPVVRG TPKDSCSYLC SHTANRSKFS
1690 1700 1710 1720 1730 1740
IADEDARQNP YPVKAMEVVN SGSEVWYSNG PGLLVIDCAS LEICRRLEPY MAPSMVTSVV
1750 1760 1770 1780 1790 1800
CSSEGRGEEV VWCLDDKANS LVMYHSTTYQ LCARYFCGVP SPLRDMFPVR PLDTEPPAAS
1810 1820 1830 1840 1850 1860
HTANPKVPEG DSIADVSIMY SEELGTQILI HQESLTDYCS MSSYSSSPPR QAARSPSSLP
1870 1880 1890 1900 1910 1920
SSPASSSSVP FSTDCEDSDM LHTPGAASDR SEHDLTPMDG ETFSQHLQAV KILAVRDLIW
1930 1940 1950 1960 1970 1980
VPRRGGDVIV IGLEKDSGAQ RGRVIAVLKA RELTPHGVLV DAAVVAKDTV VCTFENENTE
1990 2000 2010
WCLAVWRGWG AREFDIFYQS YEELGRLEAC TRKRR