Descriptions

Ror2 (receptor tyrosine kinase-like orphan receptor 2, an unconventional Wnt receptor) may be involved in the early formation of chondrocytes and may be required for cartilage and growth plate development. Ror2 autoinhibition combines several elements. Its activation loop occludes the substrate- and ATP-binding sites and the interactions between the activation loop and αC helix in the N-terminal lobe stabilizes the autoinhibited state of Ror2.

Autoinhibitory domains (AIDs)

Target domain

1945-2215 (Protein kinase domain)

Relief mechanism

Others

Assay

Accessory elements

2101-2126 (Activation loop from InterPro)

Target domain

1945-2222 (Protein kinase domain)

Relief mechanism

Assay

Autoinhibited structure

Activated structure

5 structures for P08922

Entry ID Method Resolution Chain Position Source
3ZBF X-ray 220 A A 1934-2232 PDB
4UXL X-ray 240 A A 1934-2232 PDB
7Z5W X-ray 225 A A/B 1930-2256 PDB
7Z5X X-ray 204 A A/B 1930-2256 PDB
AF-P08922-F1 Predicted AlphaFoldDB

5678 variants for P08922

Variant ID(s) Position Change Description Diseaes Association Provenance
CA16602597
rs1057519788
RCV000418413
2032 G>R Lung adenocarcinoma [ClinVar] Yes Ensembl
ClinGen
ClinVar
dbSNP
COSM5023743
COSM5023742
rs2128753497
2 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1489703242 3 N>H No gnomAD
rs369466253 4 I>F No ESP
TOPMed
gnomAD
rs369466253 4 I>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
NCI-TCGA
TOPMed
gnomAD
rs2128753481 5 Y>F No Ensembl
rs1340793753 5 Y>H No gnomAD
rs754955040 6 C>S No ExAC
gnomAD
rs754955040 6 C>Y No ExAC
gnomAD
rs2128753469 7 L>F No Ensembl
rs1229447233 8 I>V No TOPMed
gnomAD
rs770579408 9 P>L No ExAC
TOPMed
gnomAD
COSM3619927
COSM3619926
9 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1387124417 10 K>E No gnomAD
rs531081004 10 K>N No 1000Genomes
rs772804887 11 L>P No ExAC
TOPMed
gnomAD
rs772804887 11 L>R No ExAC
TOPMed
gnomAD
rs1776082502 12 V>D No gnomAD
rs1429387157 12 V>I No gnomAD
rs45606237
VAR_041442
13 N>S No UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1170566188 15 A>V No gnomAD
rs1562400875 16 T>A No Ensembl
rs1464664635 16 T>I No TOPMed
gnomAD
TCGA novel 16 T>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1464664635 16 T>N No TOPMed
gnomAD
rs1562400875 16 T>P No Ensembl
rs776963776 17 L>F No ExAC
gnomAD
rs2128753394 18 G>D No Ensembl
rs1435247456 18 G>S No gnomAD
rs2128753394 18 G>V No Ensembl
rs1179507437 19 C>R No gnomAD
COSM3994572
COSM3994573
rs747481675
19 C>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747481675 19 C>Y No ExAC
TOPMed
gnomAD
TCGA novel
rs2128753371
21 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2128753371 21 W>C No Ensembl
COSM4505330
COSM4505331
rs1562400768
23 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs1251827246 24 V>A No TOPMed
gnomAD
rs1251827246 24 V>E No TOPMed
gnomAD
rs776025396 25 V>L No ExAC
TOPMed
gnomAD
rs776025396 25 V>M No ExAC
TOPMed
gnomAD
rs2128753344 26 Q>* No Ensembl
rs1776077709 26 Q>L No TOPMed
rs1776077709 26 Q>R No TOPMed
rs1776077506 27 C>R No TOPMed
rs2128753334 27 C>Y No Ensembl
rs924427270 28 T>K No TOPMed
gnomAD
rs1776076888 29 V>D No TOPMed
rs2128753322 29 V>I No Ensembl
rs1776076278 33 C>G No TOPMed
rs2128753295 33 C>Y No Ensembl
rs1776075738 34 L>V No TOPMed
rs1776075507 35 K>N No TOPMed
gnomAD
rs371523377 36 S>L No ESP
TOPMed
gnomAD
rs1287982877 36 S>L No gnomAD
rs779056086 37 C>S No ExAC
rs746635415 38 V>A No Ensembl
rs2128753225
TCGA novel
38 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
TCGA novel 39 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128753204 40 N>Y No Ensembl
rs1286253504 41 L>R No TOPMed
gnomAD
rs757365700 41 L>V No ExAC
gnomAD
rs2128746482 42 G>D No Ensembl
rs1775508919 42 G>S No Ensembl
rs1775508513 43 Q>R No TOPMed
rs376113207 44 Q>K No ESP
ExAC
TOPMed
gnomAD
rs779908946 45 L>V No ExAC
gnomAD
COSM3619925
COSM3619924
rs1775507306
47 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
gnomAD
COSM3697372
rs2128746440
COSM3697373
48 G>D Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs758251496 48 G>S No ExAC
gnomAD
rs1460150065 49 T>A No TOPMed
rs1347271467 49 T>I No gnomAD
rs1347271467 49 T>R No gnomAD
rs778252640 50 P>L No ExAC
gnomAD
rs778252640 50 P>R No ExAC
gnomAD
rs1299679736 51 H>Y No TOPMed
COSM483334
COSM1645900
53 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs916990656 53 L>R No Ensembl
rs756807424 54 S>R No ExAC
TOPMed
gnomAD
rs1163527213 54 S>R No gnomAD
TCGA novel 55 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs553213552 56 P>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs753367775 56 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2128746379 56 P>S No Ensembl
rs1775327594 57 C>Y No TOPMed
rs1562388720 59 Q>* No Ensembl
rs778854057 59 Q>P No ExAC
gnomAD
rs1775326733 60 G>* No TOPMed
rs1251092701 60 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1020449619 61 C>Y No TOPMed
gnomAD
rs757191782 62 H>Q No ExAC
TOPMed
gnomAD
rs1775325640 63 F>L No Ensembl
rs1219188453 64 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
COSM3619923
COSM3619922
rs1346089547
65 N>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs758953330 67 V>A No Ensembl
rs2128744294 67 V>I No Ensembl
rs1285596214 68 D>Y No gnomAD
rs1775324534 69 Q>E No TOPMed
gnomAD
rs1775324307 69 Q>L No TOPMed
rs753306008 71 N>H No ExAC
gnomAD
rs1241089279 72 C>* No TOPMed
COSM1072638
COSM4867278
72 C>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs777286880 74 L>V No ExAC
gnomAD
rs1775322732 75 K>* No Ensembl
rs755740564 76 C>R No ExAC
gnomAD
rs140860347 77 R>P No ESP
ExAC
gnomAD
rs140860347 77 R>Q No ESP
ExAC
gnomAD
rs746684942 77 R>W No ExAC
TOPMed
gnomAD
rs758893022 78 E>Q No ExAC
TOPMed
rs150941257 79 S>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757736576 80 C>R No ExAC
TOPMed
gnomAD
rs1774738285 80 C>W No TOPMed
rs1373871205 81 E>D No TOPMed
rs1405807699 82 V>G No gnomAD
rs1774737792 82 V>I No TOPMed
rs2128735130 83 G>D No Ensembl
rs753907292 84 C>F No ExAC
TOPMed
gnomAD
rs753907292 84 C>Y No ExAC
TOPMed
gnomAD
rs1774736707 85 S>I No Ensembl
rs369171859 85 S>R No ESP
ExAC
TOPMed
gnomAD
rs775755714 86 S>G No ExAC
TOPMed
gnomAD
rs2128735094 86 S>N No Ensembl
rs545356487 86 S>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs145609658 87 A>G No ESP
ExAC
TOPMed
gnomAD
COSM3157950
COSM3157951
rs376101389
87 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs145609658 87 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1295924873 88 E>A No TOPMed
gnomAD
rs1295924873 88 E>G No TOPMed
gnomAD
rs2128735058 88 E>K No Ensembl
rs2128735041 89 G>C No Ensembl
rs2128735041 89 G>S No Ensembl
rs1774733694 90 A>T No TOPMed
rs2128735022 90 A>V No Ensembl
rs2128735018 92 E>K No Ensembl
rs1202390995 93 E>G No TOPMed
gnomAD
rs1774733223 93 E>K No TOPMed
rs1202390995 93 E>V No TOPMed
gnomAD
rs576811751 94 E>A No 1000Genomes
ExAC
gnomAD
rs373938735 94 E>K No TOPMed
gnomAD
rs373938735 94 E>Q No TOPMed
gnomAD
rs1774731684 95 V>I No TOPMed
rs1562379765 96 L>V No Ensembl
rs771857560 97 E>* No ExAC
TOPMed
gnomAD
rs771857560 97 E>K No ExAC
TOPMed
gnomAD
rs1386947086 98 N>D No gnomAD
rs771802350 98 N>K No ExAC
TOPMed
gnomAD
rs1386947086 98 N>Y No gnomAD
rs1226977360 99 A>E No TOPMed
gnomAD
rs2128727040 99 A>P No Ensembl
rs1226977360 99 A>V No TOPMed
gnomAD
rs1582866217 100 D>A No Ensembl
rs2128727007 100 D>E No Ensembl
rs2128727016 100 D>H No Ensembl
rs1582866217 100 D>V No Ensembl
rs2128727016 100 D>Y No Ensembl
rs532503107 101 L>I No 1000Genomes
ExAC
gnomAD
rs771267442 103 T>A No ExAC
TOPMed
gnomAD
rs2128726979 103 T>I No Ensembl
rs771267442 103 T>P No ExAC
TOPMed
gnomAD
rs2128726979 103 T>S No Ensembl
rs771267442 103 T>S No ExAC
TOPMed
gnomAD
rs1774226659 104 A>D No gnomAD
rs2128726964 104 A>P No Ensembl
rs2128726964 104 A>T No Ensembl
rs1774226659 104 A>V No gnomAD
rs1774226111 105 P>A No Ensembl
rs767519397 105 P>L No ExAC
TOPMed
gnomAD
rs767519397 105 P>R No ExAC
TOPMed
gnomAD
rs1774226111 105 P>S No Ensembl
rs2128726920 106 F>I No Ensembl
rs2128726919 106 F>L No Ensembl
rs2128726920 106 F>L No Ensembl
rs2128726920 106 F>V No Ensembl
rs1774224661 107 A>D No TOPMed
rs752731431 107 A>T No ExAC
gnomAD
rs781268704 108 S>C No ExAC
TOPMed
gnomAD
rs781268704 108 S>F No ExAC
TOPMed
gnomAD
rs2128726906 108 S>T No Ensembl
rs781268704 108 S>Y No ExAC
TOPMed
gnomAD
rs2128726871 109 S>C No Ensembl
rs2128726871 109 S>F No Ensembl
rs995478812 109 S>P No Ensembl
rs995478812 109 S>T No Ensembl
rs2128726871 109 S>Y No Ensembl
rs751815622 110 I>T No ExAC
TOPMed
gnomAD
rs755166521 110 I>V No ExAC
gnomAD
rs2128726850 111 G>* No Ensembl
rs2128726841 111 G>A No Ensembl
rs2128726841 111 G>E No Ensembl
rs2128726850
COSM5061362
COSM5061363
111 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA Cosmic
rs2128726841 111 G>V No Ensembl
rs2128726831 112 S>C No Ensembl
rs2128726831 112 S>G No Ensembl
rs765071235 112 S>I No ExAC
gnomAD
rs765071235 112 S>N No ExAC
gnomAD
rs2128726809
COSM125926
112 S>R upper_aerodigestive_tract [Cosmic] No cosmic curated
Ensembl
rs765071235 112 S>T No ExAC
gnomAD
rs2128726793 113 H>Q No Ensembl
rs897147463 113 H>Y No TOPMed
rs1382176433 114 N>I No TOPMed
gnomAD
rs1316297212 114 N>K No gnomAD
rs1382176433 114 N>S No TOPMed
gnomAD
TCGA novel 114 N>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128726769 115 M>I No Ensembl
rs2128726778 115 M>L No Ensembl
rs761461938 116 T>I No ExAC
TOPMed
gnomAD
rs761461938 116 T>K No ExAC
TOPMed
gnomAD
rs761461938 116 T>R No ExAC
TOPMed
gnomAD
rs2128726736 117 L>* No Ensembl
rs374639065 118 R>* No ESP
ExAC
TOPMed
gnomAD
rs374639065
COSM136564
118 R>G skin [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs867759865 118 R>L No TOPMed
gnomAD
rs867759865 118 R>P No TOPMed
gnomAD
COSM1072635
rs867759865
COSM1072633
COSM3429917
118 R>Q Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1388562198 119 W>* No TOPMed
gnomAD
rs2128726704 119 W>* No Ensembl
rs1388562198 119 W>C No TOPMed
gnomAD
rs1159992483 119 W>R No gnomAD
rs2128726704 119 W>S No Ensembl
rs2128726692 120 K>I No Ensembl
rs1177498366 120 K>Q No Ensembl
rs2128726692 120 K>R No Ensembl
rs2128726681 121 S>A No Ensembl
rs2128726676 121 S>C No Ensembl
rs2128726676 121 S>F No Ensembl
rs2128726681 121 S>T No Ensembl
rs763901089 122 A>E No ExAC
TOPMed
gnomAD
rs763901089 122 A>G No ExAC
TOPMed
gnomAD
rs1455911125 122 A>P No gnomAD
rs1455911125 122 A>T No gnomAD
COSM1173172
rs763901089
COSM1173173
122 A>V oesophagus [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs2128726635 123 N>D No Ensembl
rs2128726635 123 N>H No Ensembl
rs1774218848 123 N>I No TOPMed
rs2128726625 123 N>K No Ensembl
rs1774218848 123 N>S No TOPMed
rs2128726635 123 N>Y No Ensembl
rs370602941 124 F>C No ESP
ExAC
TOPMed
gnomAD
rs1774218568 124 F>I No Ensembl
rs2128726607 124 F>L No Ensembl
rs1774218568 124 F>L No Ensembl
rs370602941 124 F>Y No ESP
ExAC
TOPMed
gnomAD
rs775119219 125 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs775119219 125 S>F No ExAC
TOPMed
gnomAD
rs2128726603 125 S>T No Ensembl
rs2128726592 126 G>* No Ensembl
rs34245787 126 G>A No TOPMed
COSM3619918
rs34245787
COSM3619919
126 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs2128726592 126 G>R No Ensembl
rs34245787
VAR_041443
126 G>V No UniProt
TOPMed
dbSNP
rs2128726553 127 V>A No Ensembl
rs2128726553 127 V>E No Ensembl
rs2128726572 127 V>I No Ensembl
rs2128726572 127 V>L No Ensembl
rs2128726540 128 K>* No Ensembl
rs2128726540 128 K>E No Ensembl
rs2128726536 128 K>I No Ensembl
rs2128726534 128 K>N No Ensembl
rs747973168 129 Y>* No Ensembl
rs2128726532 129 Y>F No Ensembl
rs1774216427 130 I>F No TOPMed
gnomAD
rs2128726504 130 I>M No Ensembl
rs759258218 130 I>N No ExAC
gnomAD
rs1774216427 130 I>V No TOPMed
gnomAD
rs2128726502 131 I>F No Ensembl
rs2128726489 131 I>N No Ensembl
rs1774215910 132 Q>* No Ensembl
rs1774215910 132 Q>E No Ensembl
rs1774215639 132 Q>H No gnomAD
rs2128726479 132 Q>L No Ensembl
rs2128726463 133 W>* No Ensembl
rs867025812 133 W>* No Ensembl
rs867025812 133 W>C No Ensembl
rs2128726463 133 W>L No Ensembl
rs201807486 133 W>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs2128726463 133 W>S No Ensembl
rs2128726454 134 K>I No Ensembl
rs770628464 135 Y>* No ExAC
TOPMed
gnomAD
rs746896316 135 Y>* No ExAC
rs2128726440 135 Y>F No Ensembl
rs1306678916 135 Y>H No gnomAD
rs1306678916 135 Y>N No gnomAD
rs2128726426 136 A>G No Ensembl
rs2128726434 136 A>P No Ensembl
rs2128726434 136 A>S No Ensembl
rs2128726434 136 A>T No Ensembl
rs2128726426 136 A>V No Ensembl
rs1774214350 137 Q>* No TOPMed
rs1774214350 137 Q>E No TOPMed
rs2128726410 137 Q>H No Ensembl
rs1774214350 137 Q>K No TOPMed
rs375619431 138 L>F No ESP
ExAC
TOPMed
gnomAD
rs1774213824 138 L>H No TOPMed
rs1774213824 138 L>P No TOPMed
rs375619431 138 L>V No ESP
ExAC
TOPMed
gnomAD
TCGA novel 139 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128726379 139 L>Q No Ensembl
rs2128726379 139 L>R No Ensembl
rs2128726386 139 L>V No Ensembl
rs2128726365 140 G>* No Ensembl
rs2128726348 140 G>A No Ensembl
rs2128726348 140 G>E No Ensembl
rs2128726365 140 G>R No Ensembl
rs773654547 141 S>C No ExAC
gnomAD
rs773654547 141 S>G No ExAC
gnomAD
rs2128726332 141 S>I No Ensembl
rs2128726323 141 S>R No Ensembl
rs2128726332 141 S>T No Ensembl
rs2128726303 142 W>* No Ensembl
TCGA novel
rs2128726291
142 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2128726291 142 W>C No Ensembl
rs373796868 142 W>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373796868
RCV000908623
142 W>R No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2128726303 142 W>S No Ensembl
rs2128726284 143 T>I No Ensembl
rs2128726284 143 T>S No Ensembl
rs1582865569 144 Y>* No TOPMed
rs1340640500 144 Y>C No gnomAD
TCGA novel 144 Y>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128726274 144 Y>N No Ensembl
rs961074372 145 T>I No TOPMed
gnomAD
rs1998206
VAR_030648
145 T>P No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2128726240 146 K>* No Ensembl
rs2128726240 146 K>E No Ensembl
rs2128726231 146 K>M No Ensembl
COSM4785858
COSM1440109
146 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 146 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128726231 146 K>R No Ensembl
rs1201922933 147 T>I No gnomAD
rs1201922933 147 T>N No gnomAD
rs1582862111 148 V>A No Ensembl
COSM4785530
COSM1440107
148 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs549177200 151 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs549177200 151 P>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs1279832487 152 S>F No TOPMed
rs1774104819 152 S>P No Ensembl
rs752552490 153 Y>C No ExAC
TOPMed
gnomAD
rs1190441982 153 Y>D No TOPMed
rs113723823 154 V>A No TOPMed
rs1774102862 155 V>A No TOPMed
rs1774103053 155 V>I No TOPMed
gnomAD
rs905402237 156 K>E No TOPMed
gnomAD
rs1774102405 157 P>A No Ensembl
rs1215188906 158 L>M No gnomAD
TCGA novel 158 L>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs765959636 159 H>P No ExAC
gnomAD
rs750152817 159 H>Q No ExAC
gnomAD
rs2128724406 159 H>Y No Ensembl
rs1774100802 161 F>L No Ensembl
rs1774100603 162 T>I No Ensembl
rs2128724377 163 E>Q No Ensembl
rs1436374132 164 Y>C No TOPMed
rs180777109 164 Y>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs180777109 164 Y>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs769105985 167 R>* No ExAC
gnomAD
rs769105985 167 R>G No ExAC
gnomAD
rs2243380 167 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2243380
VAR_030649
167 R>Q No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1334656084 168 V>G No gnomAD
rs2128724330 168 V>M No Ensembl
rs898152846 169 V>D No TOPMed
gnomAD
rs1774097984 169 V>F No TOPMed
rs1774098543 169 V>I No Ensembl
rs1774097984 169 V>L No TOPMed
rs1178798860 170 W>C No gnomAD
rs1417557820 172 F>S No gnomAD
rs2128724286 173 T>I No Ensembl
rs1407611836 173 T>P No gnomAD
rs772261492 174 A>E No ExAC
TOPMed
gnomAD
rs772261492 174 A>V No ExAC
TOPMed
gnomAD
COSM117963
rs2128724265
177 Q>* ovary [Cosmic] No cosmic curated
Ensembl
rs373315543 177 Q>R No ESP
ExAC
gnomAD
rs771282907 178 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs771282907 178 L>I No ExAC
TOPMed
gnomAD
rs747911152 179 Y>C No ExAC
TOPMed
gnomAD
COSM4902471
COSM4902472
180 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs754846972 181 P>S No ExAC
TOPMed
gnomAD
rs2128724228 182 P>T No Ensembl
rs751553775 183 S>G No ExAC
gnomAD
rs2128724215 184 P>H No Ensembl
rs757981971 185 S>G No ExAC
gnomAD
rs1419160274 185 S>I No TOPMed
gnomAD
rs749944544 187 R>G No ExAC
gnomAD
rs1774092614 187 R>K No Ensembl
rs1774092199 188 T>I No Ensembl
rs1774092408 188 T>P No Ensembl
COSM1697844
COSM1697843
rs764834127
189 H>N skin [Cosmic] No cosmic curated
ExAC
gnomAD
rs1338468574 189 H>Q No TOPMed
gnomAD
COSM3828904
COSM3828903
189 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128724167 190 P>L No 1000Genomes
rs1451448120 190 P>S No gnomAD
rs761479222 191 H>D No ExAC
TOPMed
gnomAD
rs754183720 191 H>P No ExAC
TOPMed
gnomAD
rs754183720 191 H>R No ExAC
TOPMed
gnomAD
rs761479222 191 H>Y No ExAC
TOPMed
gnomAD
COSM3619915
COSM3619914
192 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs761084079 193 V>I No ExAC
gnomAD
rs1298952570
COSM421099
COSM3157931
COSM421100
194 P>S Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs766602764 195 E>Q No ExAC
gnomAD
rs763259655 196 T>I No ExAC
gnomAD
rs2128716964 197 A>T No Ensembl
COSM95213
rs1302819459
198 P>L lung [Cosmic] No cosmic curated
gnomAD
rs769919414 198 P>S No ExAC
TOPMed
gnomAD
rs769919414 198 P>T No ExAC
TOPMed
gnomAD
rs746782086 200 I>V No ExAC
gnomAD
rs775173615 201 R>G No ExAC
gnomAD
rs1296913853 201 R>S No gnomAD
rs377231905 202 N>H No ESP
ExAC
gnomAD
rs564942341 203 I>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs564942341 203 I>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1773550940 203 I>V No Ensembl
rs1009843617 204 E>K No TOPMed
gnomAD
rs1009843617 204 E>Q No TOPMed
gnomAD
rs148499825 205 S>G No ESP
ExAC
TOPMed
gnomAD
rs1426748283 205 S>N No TOPMed
gnomAD
rs148499825 205 S>R No ESP
ExAC
TOPMed
gnomAD
rs2128716887 206 S>L No Ensembl
rs1052820169 207 S>G No TOPMed
gnomAD
rs1052820169 207 S>R No TOPMed
gnomAD
rs2128716867
TCGA novel
208 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs755751748 209 D>G No ExAC
TOPMed
gnomAD
rs777419401 209 D>H No ExAC
TOPMed
gnomAD
rs777419401 209 D>N No ExAC
TOPMed
gnomAD
rs1691833635 210 T>A No Ensembl
rs2128716827 211 V>M No Ensembl
rs372381027 212 E>K No ESP
ExAC
TOPMed
gnomAD
rs372381027 212 E>Q No ESP
ExAC
TOPMed
gnomAD
rs868334441 214 S>N No TOPMed
gnomAD
rs868334441 214 S>T No TOPMed
gnomAD
rs1200269574 216 D>N No gnomAD
rs752174345 217 P>L No ExAC
TOPMed
gnomAD
rs752174345 217 P>Q No ExAC
TOPMed
gnomAD
rs142201886 217 P>T No ESP
ExAC
TOPMed
gnomAD
rs1773545679 218 P>L No gnomAD
rs766551627 218 P>S No ExAC
gnomAD
rs763066523 219 Q>* No ExAC
gnomAD
rs773199682 219 Q>R No ExAC
TOPMed
gnomAD
rs2128716742 220 F>S No Ensembl
rs2128716732 221 P>S No Ensembl
rs2128716720 222 G>C No Ensembl
rs1773543979 222 G>D No Ensembl
rs1240410063 223 G>E No gnomAD
rs2128716710 223 G>R No Ensembl
rs771923036 224 P>H No ExAC
gnomAD
rs771923036 224 P>L No ExAC
gnomAD
rs55959124
RCV000879585
VAR_041444
224 P>S No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs770860620 226 L>S No ExAC
gnomAD
rs770860620 226 L>W No ExAC
gnomAD
rs1459152647 227 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs2128716667
RCV001728070
227 G>S No ClinVar
Ensembl
dbSNP
rs1253255306 228 Y>C No Ensembl
rs1773541562 228 Y>H No Ensembl
rs747824037 229 N>K No ExAC
gnomAD
rs970148457 230 L>S No TOPMed
gnomAD
rs2128716623 231 R>M No Ensembl
rs2128716627 231 R>W No Ensembl
rs137969966 233 I>N No ESP
ExAC
TOPMed
gnomAD
rs939993004 234 S>G No Ensembl
rs1773539651 234 S>I No gnomAD
rs1773539651 234 S>N No gnomAD
rs939993004 234 S>R No Ensembl
rs1773539351 235 K>R No gnomAD
rs1773539351 235 K>T No gnomAD
COSM3619910
rs747794595
COSM3619911
237 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs747794595 237 Q>E No ExAC
TOPMed
gnomAD
rs781612376 237 Q>H No ExAC
rs747794595 237 Q>K No ExAC
TOPMed
gnomAD
rs1773538215 239 L>F No TOPMed
rs751983911 240 D>H No ExAC
TOPMed
gnomAD
rs780637099 240 D>V No ExAC
gnomAD
rs751983911 240 D>Y No ExAC
TOPMed
gnomAD
rs554606784 241 A>S No 1000Genomes
ExAC
gnomAD
rs554606784 241 A>T No 1000Genomes
ExAC
gnomAD
rs750496946 242 G>E No ExAC
rs765277219 243 T>A No ExAC
gnomAD
COSM3366272
COSM3366271
243 T>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1773535955 244 Q>* No TOPMed
rs1204481074 244 Q>P No gnomAD
COSM4865309
COSM1072629
245 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs754066414 246 T>I No ExAC
TOPMed
gnomAD
rs759261834 248 F>Y No ExAC
gnomAD
rs1674306855 249 Q>E No TOPMed
gnomAD
COSM4864701
COSM1072626
250 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs774163740 251 Y>H No ExAC
gnomAD
rs150306025 252 S>A No ESP
ExAC
TOPMed
gnomAD
TCGA novel 252 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs150306025 252 S>T No ESP
ExAC
TOPMed
gnomAD
rs955421054 253 T>A No TOPMed
rs955421054 253 T>S No TOPMed
rs772747487 254 L>F No ExAC
gnomAD
rs1337789269 255 P>S No TOPMed
gnomAD
rs372009449 258 I>M No ESP
ExAC
TOPMed
gnomAD
rs921368375 258 I>V No TOPMed
gnomAD
rs1403866070 259 Y>C No gnomAD
rs1773532310 259 Y>N No gnomAD
rs1156495510 260 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1337780875 262 S>P No gnomAD
rs1269992033 263 I>L No TOPMed
gnomAD
rs1269992033 263 I>V No TOPMed
gnomAD
rs2128715573 264 A>T No Ensembl
rs1773476999 264 A>V No gnomAD
rs746701860 265 A>G No ExAC
TOPMed
gnomAD
rs1562361642 265 A>T No Ensembl
rs746701860 265 A>V No ExAC
TOPMed
gnomAD
rs1340735325 267 N>D No TOPMed
gnomAD
rs780565452 267 N>T No ExAC
TOPMed
gnomAD
rs886999412 270 G>A No gnomAD
rs886999412 270 G>D No gnomAD
rs2128715507 272 G>C No Ensembl
rs2128715498 272 G>D No Ensembl
rs370121653 273 P>A No ESP
TOPMed
rs370121653 273 P>S No ESP
TOPMed
TCGA novel 273 P>V Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2128715469 274 E>G No Ensembl
TCGA novel 274 E>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1562361544 275 A>T No Ensembl
rs1773473726 276 E>* No TOPMed
rs1773473229 277 S>F No gnomAD
rs1773473508 277 S>T No Ensembl
rs1773473229 277 S>Y No gnomAD
rs899835248 278 S>G No TOPMed
gnomAD
rs775196449 279 I>T No Ensembl
rs1773471962 282 S>L No TOPMed
rs113942409 282 S>P No Ensembl
rs1426025238 283 S>F No gnomAD
rs1426025238 283 S>Y No gnomAD
rs2128715377 285 A>P No Ensembl
rs1773471237 285 A>V No gnomAD
rs1322402703 286 V>A No TOPMed
gnomAD
rs542417250 286 V>F No 1000Genomes
ExAC
gnomAD
rs542417250 286 V>I No 1000Genomes
ExAC
gnomAD
rs1773357325 287 Q>E No TOPMed
gnomAD
rs1773357083 287 Q>L No Ensembl
rs2128713681 289 E>V No Ensembl
rs371206741 290 E>* No ESP
ExAC
TOPMed
gnomAD
rs371206741 290 E>K No ESP
ExAC
TOPMed
gnomAD
rs371206741 290 E>Q No ESP
ExAC
TOPMed
gnomAD
rs189516374 291 Q>* No 1000Genomes
ExAC
TOPMed
gnomAD
rs189516374 291 Q>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs989723092 291 Q>P No TOPMed
gnomAD
TCGA novel
rs989723092
291 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1378760239 292 W>* No gnomAD
rs1378760239 292 W>C No gnomAD
rs868473694 293 L>F No gnomAD
rs755256160 294 F>L No ExAC
gnomAD
rs1773353857 296 S>F No TOPMed
rs2128713622 297 R>I No Ensembl
TCGA novel 298 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs757140194 299 T>I No ExAC
gnomAD
rs201937922 300 S>A No ExAC
TOPMed
gnomAD
rs201937922 300 S>P No ExAC
TOPMed
gnomAD
rs1183336300 300 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
TCGA novel 302 R>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs775172177 303 K>R No ExAC
gnomAD
COSM4866945
COSM1072623
304 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1211839682 304 R>S No gnomAD
TCGA novel 305 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs767029887 306 L>* No ExAC
gnomAD
rs1420516084 306 L>F No TOPMed
gnomAD
rs2128713552 309 L>V No Ensembl
rs1773350089 311 D>E No Ensembl
COSM4947904
COSM1440105
312 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs957712386 313 A>T No TOPMed
rs140108938 314 H>L No ESP
ExAC
TOPMed
gnomAD
rs140108938 314 H>R No ESP
ExAC
TOPMed
gnomAD
rs773650993 317 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
COSM136563
COSM1739214
rs200113895
317 R>W NS skin [Cosmic] No cosmic curated
1000Genomes
ExAC
TOPMed
gnomAD
rs1025021082 318 L>M No TOPMed
gnomAD
rs1012331801 319 D>G No TOPMed
gnomAD
rs1773347942 319 D>N No Ensembl
rs1012331801 319 D>V No TOPMed
gnomAD
rs1773346851 320 A>D No Ensembl
rs148185831 320 A>P No ESP
ExAC
TOPMed
gnomAD
rs148185831 320 A>T No ESP
ExAC
TOPMed
gnomAD
rs781352657 321 I>M No ExAC
gnomAD
rs1421644123 321 I>V No gnomAD
rs146159167 323 H>N No ESP
ExAC
TOPMed
gnomAD
rs551116874 323 H>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs753691208 325 I>T No ExAC
TOPMed
gnomAD
rs756144218 326 T>R No ExAC
TOPMed
gnomAD
rs2128713040 327 G>A No Ensembl
COSM3619908
COSM3619909
327 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs772455106 331 D>G No ExAC
TOPMed
gnomAD
rs772455106 331 D>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1773316770 333 H>Y No Ensembl
rs2128713018 334 Q>* No Ensembl
rs1773316499 334 Q>H No gnomAD
rs1220701751 335 Q>* No gnomAD
rs1220701751 335 Q>K No gnomAD
rs749044063 337 V>F No ExAC
TOPMed
gnomAD
rs749044063 337 V>I No ExAC
TOPMed
gnomAD
COSM6172031
COSM6172030
337 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs55707658
VAR_041445
338 Y>C No UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1773315200 340 S>F No Ensembl
rs756089152 340 S>P No ExAC
TOPMed
gnomAD
rs2128712983 341 E>* No Ensembl
rs752745358 341 E>D No ExAC
gnomAD
rs1773314733 343 T>I No TOPMed
rs1297010018 344 L>V No gnomAD
rs2128712967 346 W>* No Ensembl
COSM364048
rs2128712961
COSM364047
346 W>C lung [Cosmic] No cosmic curated
Ensembl
COSM3157902
COSM3157901
rs780553416
347 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1218175401 348 K>E No TOPMed
gnomAD
rs2128712948 348 K>N No Ensembl
rs751035291 349 K>* No ExAC
TOPMed
gnomAD
rs751035291 349 K>E No ExAC
TOPMed
gnomAD
rs765972514 350 A>P No ExAC
gnomAD
COSM1440103
COSM4783946
350 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs765972514 350 A>T No ExAC
gnomAD
rs2128712924 351 A>S No Ensembl
rs1426852418 351 A>V No gnomAD
rs1773312511 352 N>I No Ensembl
rs1197516016 352 N>K No gnomAD
rs376663875 353 M>I No ESP
ExAC
TOPMed
rs1026474078 353 M>R No Ensembl
rs1026474078 353 M>T No Ensembl
rs1773311321 354 S>T No TOPMed
TCGA novel 354 S>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128712871 355 D>N No Ensembl
rs1773310568 356 V>I No TOPMed
rs1773310568 356 V>L No TOPMed
rs1773310064 357 S>C No Ensembl
rs1175443727 359 L>M No gnomAD
rs2128712835 359 L>P No Ensembl
rs769599473
COSM1072618
COSM1072620
COSM1672712
360 R>I Variant assessed as Somatic; MODERATE impact. large_intestine endometrium haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1238577631 361 I>S No gnomAD
rs1238577631 361 I>T No gnomAD
rs1773308549 362 F>L No Ensembl
rs1562358765 363 Y>F No gnomAD
COSM294782
rs1392239785
363 Y>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
RCV002248663
CA3975659
rs61743088
RCV000454139
RCV003424002
365 G>A No ClinGen
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs61743088 365 G>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs373813252 365 G>S No ESP
ExAC
TOPMed
rs2128712760 367 G>R No Ensembl
COSM3920645
COSM3920644
368 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3697473
COSM3697472
VAR_041446
rs56274823
370 S>P large_intestine [Cosmic] No cosmic curated
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM4947028
COSM76281
rs957763915
370 S>Y ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1773306049 371 S>P No TOPMed
rs772402190 372 I>F No ExAC
gnomAD
rs1376184246 372 I>S No Ensembl
rs772402190 372 I>V No ExAC
gnomAD
rs2128712716 373 S>F No Ensembl
rs1582835479 374 I>K No Ensembl
rs923637371 374 I>L No TOPMed
rs746135095 375 D>E No ExAC
TOPMed
gnomAD
COSM5744897
COSM5744898
375 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs773134065 376 W>R No 1000Genomes
ExAC
gnomAD
rs1378031096 377 L>F No TOPMed
gnomAD
rs1378031096 377 L>V No TOPMed
gnomAD
rs781116397 378 Y>* No ExAC
gnomAD
rs1773303300 378 Y>F No Ensembl
rs369960949 378 Y>H No ESP
ExAC
TOPMed
gnomAD
rs1403417515 379 Q>E No TOPMed
gnomAD
rs1403417515 379 Q>K No TOPMed
gnomAD
rs1466068877
COSM202100
COSM202101
380 R>I Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1466068877 380 R>T No TOPMed
gnomAD
rs1216078562 381 M>T No TOPMed
gnomAD
rs1773300662 382 Y>* No TOPMed
rs746475409 382 Y>C No ExAC
gnomAD
rs145259410 382 Y>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs936476170 383 F>V No Ensembl
COSM1647861
COSM739464
384 I>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128712608 385 M>I No Ensembl
TCGA novel 385 M>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs565037039 385 M>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs758013138 386 D>E No ExAC
gnomAD
rs1190652673 386 D>H No TOPMed
gnomAD
rs750137132 387 E>G No ExAC
gnomAD
rs2128711133 389 V>E No Ensembl
rs1360638449 389 V>I No TOPMed
gnomAD
rs1360638449 389 V>L No TOPMed
gnomAD
rs997358663 390 C>R No TOPMed
gnomAD
rs997358663 390 C>S No TOPMed
gnomAD
rs2128711118 390 C>S No Ensembl
rs2128711109 391 V>F No Ensembl
rs2128711109 391 V>L No Ensembl
rs2128711098 392 C>R No Ensembl
rs2128711092 392 C>S No Ensembl
rs1163617062 393 D>E No gnomAD
rs768400134 393 D>H No ExAC
TOPMed
gnomAD
rs768400134 393 D>N No ExAC
TOPMed
gnomAD
rs768400134 393 D>Y No ExAC
TOPMed
gnomAD
rs2128711070 394 L>* No Ensembl
rs2128711065 394 L>F No Ensembl
rs2128711074 394 L>I No Ensembl
rs2128711054 395 E>* No Ensembl
COSM1072615
COSM1072617
rs2128711045
COSM4865754
395 E>D endometrium Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
Ensembl
NCI-TCGA Cosmic
rs2128711054 395 E>K No Ensembl
rs2128711054 395 E>Q No Ensembl
rs2128711049 395 E>V No Ensembl
rs2128711033 396 N>I No Ensembl
rs2128711026 396 N>K No Ensembl
rs2128711037 396 N>Y No Ensembl
rs1459296351 397 C>S No gnomAD
rs2128711020 397 C>S No Ensembl
rs2128711000 397 C>W No Ensembl
rs1459296351 397 C>Y No gnomAD
rs2128710983
COSM126912
398 S>* upper_aerodigestive_tract [Cosmic] No cosmic curated
Ensembl
rs2128710983 398 S>L No Ensembl
rs2128710993 398 S>P No Ensembl
rs2128710993 398 S>T No Ensembl
rs2128710965 399 N>I No Ensembl
rs2128710950 399 N>K No Ensembl
rs1371504833 400 I>F No TOPMed
gnomAD
rs1002056236 400 I>M No TOPMed
gnomAD
rs1371504833 400 I>V No TOPMed
gnomAD
rs775340905 401 E>* No ExAC
TOPMed
gnomAD
rs2128710911 401 E>D No Ensembl
rs1265449575 401 E>G No TOPMed
gnomAD
rs775340905 401 E>K No ExAC
TOPMed
gnomAD
rs775340905 401 E>Q No ExAC
TOPMed
gnomAD
rs1307627482
COSM1697839
COSM1697840
402 E>K Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
NCI-TCGA
rs1307627482 402 E>Q No Ensembl
rs2128710897 403 I>F No Ensembl
rs2128710891 403 I>N No Ensembl
rs2128710897 403 I>V No Ensembl
rs1582832402 404 T>I No Ensembl
rs1197436960 404 T>P No gnomAD
rs1197436960 404 T>S No gnomAD
rs1582832402 404 T>S No Ensembl
rs2128710858 405 P>A No Ensembl
rs2128710847 405 P>L No Ensembl
rs2128710858 405 P>S No Ensembl
rs2128710858 405 P>T No Ensembl
rs1048953715 406 P>A No Ensembl
rs1199787368 406 P>H No TOPMed
gnomAD
rs1199787368 406 P>L No TOPMed
gnomAD
rs1199787368 406 P>R No TOPMed
gnomAD
rs1048953715 406 P>S No Ensembl
rs1048953715 406 P>T No Ensembl
rs1291270003 407 S>C No gnomAD
rs1291270003 407 S>F No gnomAD
rs1773213262 407 S>P No Ensembl
rs1773213262 407 S>T No Ensembl
rs1466737621 408 I>F No Ensembl
rs2128710794 408 I>N No Ensembl
rs1466737621 408 I>V No Ensembl
rs1773212536 409 S>C No Ensembl
rs1773212307 409 S>R No TOPMed
rs2128710777 409 S>T No Ensembl
rs2128710765 410 A>G No Ensembl
rs745334216 410 A>S No ExAC
gnomAD
rs745334216 410 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs2128710765 410 A>V No Ensembl
rs781629779 411 P>A No ExAC
gnomAD
rs2128710740 411 P>H No Ensembl
rs2128710740 411 P>L No Ensembl
rs781629779 411 P>S No ExAC
gnomAD
rs781629779 411 P>T No ExAC
gnomAD
rs2128710725 412 Q>E No Ensembl
rs2128710711 414 I>F No Ensembl
TCGA novel 414 I>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs770589705 414 I>S No ExAC
TOPMed
gnomAD
rs770589705 414 I>T No ExAC
TOPMed
gnomAD
rs2128710711 414 I>V No Ensembl
rs2128710683 415 V>E No Ensembl
rs2128710683 415 V>G No Ensembl
rs2128710688 415 V>L No Ensembl
rs2128710688 415 V>M No Ensembl
rs1773210564 416 A>P No TOPMed
rs1773210564 416 A>S No TOPMed
rs1773210564 416 A>T No TOPMed
rs1217639125 416 A>V No gnomAD
rs767322079 417 D>E No Ensembl
rs748963951 417 D>G No ExAC
gnomAD
rs2128710632 417 D>H No Ensembl
rs2128710632 417 D>N No Ensembl
rs2128710604 418 S>* No Ensembl
rs2128710604 418 S>L No Ensembl
rs2128710610 418 S>T No Ensembl
rs2128710575 419 Y>* No Ensembl
rs1279524577
COSM1440096
COSM1440097
419 Y>C large_intestine [Cosmic] No cosmic curated
TOPMed
gnomAD
COSM1642836
COSM1642835
VAR_041447
COSM20591
rs1444274116
419 Y>H stomach a gastric adenocarcinoma sample; somatic mutation [Cosmic, UniProt] No cosmic curated
UniProt
TOPMed
dbSNP
gnomAD
rs1444274116 419 Y>N No TOPMed
gnomAD
rs2128710560 420 N>K No Ensembl
rs1433758459 420 N>S No gnomAD
rs778189552 421 G>A No ExAC
gnomAD
rs778189552 421 G>E No ExAC
gnomAD
rs1773208837 421 G>R No Ensembl
rs778189552 421 G>V No ExAC
gnomAD
rs1773208837
COSM1672710
COSM1672711
421 G>W lung [Cosmic] No cosmic curated
Ensembl
rs1239577422 422 Y>C No TOPMed
gnomAD
rs1459389274 422 Y>D No TOPMed
gnomAD
rs1459389274 422 Y>H No TOPMed
gnomAD
rs752178140 423 V>A No ExAC
TOPMed
gnomAD
rs752178140 423 V>D No ExAC
TOPMed
gnomAD
rs1255187618 423 V>I No TOPMed
gnomAD
rs867465351 425 Y>C No gnomAD
rs1270487763 426 L>F No TOPMed
gnomAD
rs1270487763 426 L>V No TOPMed
gnomAD
COSM4785356
COSM1440095
428 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 432 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1205023293 433 R>I No TOPMed
rs758345543 433 R>S No ExAC
TOPMed
gnomAD
rs2128705483 434 A>E No Ensembl
rs2128705483 434 A>V No Ensembl
rs1582823740 435 D>A No Ensembl
rs1772909704 435 D>H No Ensembl
rs2128705461 436 L>F No Ensembl
rs2128705457
COSM1697837
COSM1697838
437 P>L skin [Cosmic] No cosmic curated
Ensembl
rs2128705445 438 V>I No Ensembl
rs1447587100 439 P>Q No gnomAD
rs1447587100 439 P>R No gnomAD
rs2128705440 439 P>S No Ensembl
COSM141179
rs1582823688
440 S>F upper_aerodigestive_tract [Cosmic] No cosmic curated
Ensembl
rs1772908692 440 S>P No TOPMed
rs762072029 441 G>A No ExAC
gnomAD
rs762072029 441 G>V No ExAC
gnomAD
rs767371570 442 R>Q No ExAC
TOPMed
gnomAD
rs139256509 442 R>W No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1287758562 443 C>F No TOPMed
gnomAD
rs1287758562 443 C>Y No TOPMed
gnomAD
rs2128705374 444 A>S No Ensembl
rs1225522207 444 A>V No gnomAD
rs267600781 445 E>K No Ensembl
rs759459909 446 A>S No ExAC
TOPMed
gnomAD
rs2128705355 446 A>V No Ensembl
rs1772905218 447 V>M No TOPMed
rs766342599 448 R>C No ExAC
TOPMed
gnomAD
COSM3857813
COSM3857814
rs766342599
448 R>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
TOPMed
gnomAD
rs374934137 448 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
gnomAD
rs769545143 449 I>T No ExAC
TOPMed
gnomAD
rs772798392 449 I>V No ExAC
TOPMed
gnomAD
rs2128705312 451 E>* No Ensembl
rs536309296 451 E>V No 1000Genomes
rs1365333105 452 S>G No TOPMed
gnomAD
rs777130376 452 S>N No ExAC
TOPMed
gnomAD
rs747412076 453 C>* No ExAC
TOPMed
gnomAD
rs769199680 453 C>G No ExAC
gnomAD
rs2128705276 453 C>Y No Ensembl
rs1305515541 454 T>A No TOPMed
gnomAD
rs780387866 454 T>M No ExAC
TOPMed
gnomAD
rs2128705244 456 K>N No Ensembl
rs1380119686 457 D>G No gnomAD
rs779093341 459 A>E No ExAC
gnomAD
rs779093341 459 A>G No ExAC
gnomAD
rs41291920 459 A>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs41291920 459 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs779093341 459 A>V No ExAC
gnomAD
rs200988886 460 I>M No ExAC
TOPMed
gnomAD
rs754120533 460 I>N No ExAC
gnomAD
rs754120533 460 I>T No ExAC
gnomAD
rs1446220228 460 I>V No Ensembl
RCV000972430
rs61729671
461 K>E No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs766174223 462 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs751398495 462 P>S No ExAC
gnomAD
rs751398495 462 P>T No ExAC
gnomAD
rs986620798 463 Q>* No TOPMed
gnomAD
rs986620798 463 Q>K No TOPMed
gnomAD
rs1189662520 463 Q>R No TOPMed
gnomAD
rs1476515066 464 A>S No TOPMed
gnomAD
rs1476515066 464 A>T No TOPMed
gnomAD
rs762992489 465 K>T No ExAC
gnomAD
rs370199384 466 R>* No ESP
ExAC
TOPMed
gnomAD
COSM1072614
rs140178288
COSM4393980
COSM1072612
466 R>Q Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs768456216 467 I>T No ExAC
gnomAD
COSM3619907
COSM3619906
468 I>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1772894906 468 I>N No Ensembl
rs1292213271 469 Y>C No gnomAD
rs2128705105
TCGA novel
470 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs747288191 471 N>I No ExAC
TOPMed
gnomAD
rs747288191 471 N>S No ExAC
TOPMed
gnomAD
rs747288191 471 N>T No ExAC
TOPMed
gnomAD
rs775973005 472 D>G No ExAC
TOPMed
gnomAD
rs2128705083 472 D>H No Ensembl
rs2128705083 472 D>Y No Ensembl
rs1772892852 473 T>A No Ensembl
rs2128705062 473 T>I No Ensembl
rs2128705051 474 A>S No Ensembl
rs2128705051 474 A>T No Ensembl
rs2128705043 474 A>V No Ensembl
rs1384775761 475 Q>E No TOPMed
rs1384775761 475 Q>K No TOPMed
TCGA novel 475 Q>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1772892350 476 V>F No Ensembl
rs574409648 476 V>G No TOPMed
gnomAD
rs1772892350 476 V>I No Ensembl
rs550021694 477 F>L No 1000Genomes
gnomAD
rs199884555 478 M>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1772891224 479 S>A No TOPMed
TCGA novel 479 S>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs778955018 480 T>I No ExAC
gnomAD
rs746458448 480 T>S No ExAC
TOPMed
gnomAD
rs757273336 482 L>M No ExAC
gnomAD
rs894014003 483 D>G No Ensembl
rs2128704971 483 D>H No Ensembl
rs2128704971 483 D>N No Ensembl
rs894014003 483 D>V No Ensembl
rs1772889433 484 G>D No Ensembl
rs1772889433 484 G>V No Ensembl
rs1772888531 485 S>C No Ensembl
rs1772888531 485 S>F No Ensembl
rs1422557855 485 S>P No TOPMed
gnomAD
rs1772887946 486 A>P No gnomAD
rs1772887946 486 A>S No gnomAD
rs1772887946 486 A>T No gnomAD
rs749377024 486 A>V No ExAC
TOPMed
gnomAD
rs2128704908 487 S>F No Ensembl
rs1772886917 488 H>Q No Ensembl
rs777928809 488 H>R No ExAC
TOPMed
gnomAD
rs1772887445 488 H>Y No Ensembl
rs2128704876 489 L>F No Ensembl
rs1190556321 489 L>P No gnomAD
rs1772886439 491 L>P No TOPMed
rs2128704838 492 P>L No Ensembl
rs2128704845 492 P>S No Ensembl
COSM3619905
COSM3619904
rs756348072
493 R>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs146130970 493 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs146130970 493 R>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs756348072 493 R>S No ExAC
TOPMed
gnomAD
rs1380069762 494 I>L No TOPMed
rs2128704811 494 I>N No Ensembl
rs766232395 495 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs766232395 495 P>R No ExAC
TOPMed
gnomAD
rs2128704803 495 P>S No Ensembl
rs981528087 496 F>L No TOPMed
gnomAD
rs2128704783 497 A>V No Ensembl
rs758263799 498 D>G No ExAC
gnomAD
rs2128704777 498 D>N No Ensembl
rs2128704777 498 D>Y No Ensembl
rs2128704769 499 V>L No Ensembl
rs1772883690 500 K>N No TOPMed
rs1772883967 500 K>T No Ensembl
rs1310552526 501 S>N No gnomAD
rs1301103592 502 F>C No gnomAD
rs142940626 503 A>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1772882819 503 A>V No Ensembl
rs2128704730 505 E>K No Ensembl
rs2128704727 506 N>K No Ensembl
rs1203305316 507 N>D No gnomAD
rs761338135 507 N>I No ExAC
gnomAD
rs763818587 508 D>E No ExAC
gnomAD
rs1772881276 508 D>G No TOPMed
rs1399068165 508 D>H No gnomAD
rs1463033775 509 F>L No TOPMed
gnomAD
rs1375443218 510 L>F No gnomAD
rs2128704680
COSM1647864
COSM739470
COSM739469
512 T>S lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs1466317364 513 D>E No TOPMed
gnomAD
rs775717825 513 D>G No ExAC
gnomAD
rs2128704673 513 D>Y No Ensembl
rs1772879507 514 G>D No Ensembl
rs2128704655 514 G>S No Ensembl
rs201527593 515 K>R No Ensembl
rs2128704631 516 V>I No Ensembl
rs2128704631 516 V>L No Ensembl
rs1396856660 517 I>V No gnomAD
rs2128704608 520 Q>* No Ensembl
rs2128704601 520 Q>H No Ensembl
rs2128704597 521 D>N No Ensembl
rs1457175155 521 D>V No gnomAD
rs1772877369 522 A>V No TOPMed
rs774776316 524 S>C No ExAC
gnomAD
rs1772877142 524 S>T No TOPMed
rs771457051 526 N>I No ExAC
TOPMed
gnomAD
rs771457051 526 N>S No ExAC
TOPMed
gnomAD
rs2128704578 526 N>Y No Ensembl
rs1766824259 527 E>* No Ensembl
rs749314336 527 E>A No ExAC
gnomAD
rs1766824259
COSM3619901
COSM1440092
COSM1440093
527 E>K Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
Ensembl
rs1766824259 527 E>Q No Ensembl
rs749314336 527 E>V No ExAC
gnomAD
rs2128704524 528 F>L No Ensembl
rs1772875855 529 I>F No gnomAD
rs527529345 529 I>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs1772875855 529 I>V No gnomAD
rs878999513 530 V>L No Ensembl
rs878999513 530 V>M No Ensembl
rs1442991049 531 G>* No TOPMed
gnomAD
rs1234135807 531 G>E No gnomAD
rs1442991049 531 G>R No TOPMed
gnomAD
rs1234135807 531 G>V No gnomAD
rs2128704477 532 C>* No Ensembl
rs2128704481 532 C>S No Ensembl
rs2128704477 532 C>W No Ensembl
rs2128704481 532 C>Y No Ensembl
rs2128704466 533 D>E No Ensembl
rs2128704473 533 D>H No Ensembl
rs2128704470 533 D>V No Ensembl
rs2128704473 533 D>Y No Ensembl
rs748468509 534 L>M No ExAC
TOPMed
rs2128704455 534 L>P No Ensembl
rs748468509 534 L>V No ExAC
TOPMed
rs779701008 535 S>C No ExAC
gnomAD
rs779701008 535 S>G No ExAC
gnomAD
rs2128704427 535 S>I No Ensembl
TCGA novel 535 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128704421 535 S>R No Ensembl
rs779701008 535 S>R No ExAC
gnomAD
rs2128704414 536 H>D No Ensembl
rs2128704407 536 H>L No Ensembl
rs2128704403 536 H>Q No Ensembl
rs2128704407 536 H>R No Ensembl
rs2128704414 536 H>Y No Ensembl
rs28639589
VAR_041448
537 I>M No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1378148607 537 I>T No gnomAD
rs758152077 537 I>V No ExAC
gnomAD
rs757314497 538 E>A No ExAC
TOPMed
gnomAD
TCGA novel
rs2128704369
538 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs778946604 538 E>Q No ExAC
TOPMed
gnomAD
COSM4864797
COSM1072611
rs1772873017
COSM1072609
539 E>* Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
Ensembl
rs2128704348 539 E>D No Ensembl
rs1772873017 539 E>K No Ensembl
rs1772873017 539 E>Q No Ensembl
rs1466151077 540 F>L No gnomAD
rs1301719041 540 F>S No gnomAD
rs753367494 541 G>A No ExAC
TOPMed
gnomAD
rs753367494 541 G>E No ExAC
TOPMed
gnomAD
rs753367494 541 G>V No ExAC
TOPMed
gnomAD
rs760234329 543 G>A No ExAC
TOPMed
gnomAD
rs763765128 543 G>C No ExAC
TOPMed
gnomAD
rs760234329 543 G>D No ExAC
TOPMed
gnomAD
rs763765128 543 G>R No ExAC
TOPMed
gnomAD
rs763765128 543 G>S No ExAC
TOPMed
gnomAD
rs760234329 543 G>V No ExAC
TOPMed
gnomAD
rs752340723 544 N>S No ExAC
gnomAD
rs2128704295 545 L>F No Ensembl
rs991227380 545 L>S No Ensembl
rs767083171 546 V>A No ExAC
TOPMed
gnomAD
rs767083171 546 V>D No ExAC
TOPMed
gnomAD
rs2128704286 546 V>F No Ensembl
rs2128704286 546 V>I No Ensembl
rs2128704286 546 V>L No Ensembl
rs1772869943 547 I>F No TOPMed
rs149258740 547 I>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128704264 547 I>T No Ensembl
rs1772869943 547 I>V No TOPMed
rs2128704251 548 F>I No Ensembl
rs762731566 548 F>L No ExAC
TOPMed
gnomAD
rs556303105 548 F>S No 1000Genomes
rs2128704228 549 G>A No Ensembl
rs1298125194 549 G>C No gnomAD
rs2128704228 549 G>D No Ensembl
rs1298125194 549 G>R No gnomAD
rs1298125194 549 G>S No gnomAD
rs2128704228 549 G>V No Ensembl
rs763487146 550 S>* No ExAC
TOPMed
gnomAD
rs763487146 550 S>L No ExAC
TOPMed
gnomAD
rs2128704214 550 S>P No Ensembl
rs2128704214 550 S>T No Ensembl
rs865940125 551 S>C No Ensembl
rs865940125
COSM450403
COSM450404
COSM3157880
551 S>F Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
NCI-TCGA
rs2128704195 551 S>P No Ensembl
rs773272241 552 S>A No ExAC
gnomAD
rs769974183 552 S>C No ExAC
gnomAD
rs769974183 552 S>F No ExAC
gnomAD
rs773272241 552 S>P No ExAC
gnomAD
rs748189554 553 Q>* No ExAC
gnomAD
rs748189554 553 Q>E No ExAC
gnomAD
rs2128704148 553 Q>H No Ensembl
rs748189554 553 Q>K No ExAC
gnomAD
rs2128704156 553 Q>L No Ensembl
rs2128704139 554 L>M No Ensembl
rs2128704130 554 L>P No Ensembl
rs2128704130 554 L>Q No Ensembl
rs2128704139 554 L>V No Ensembl
rs2128704120 555 H>D No Ensembl
rs2128704110 555 H>L No Ensembl
rs2128704110 555 H>P No Ensembl
rs2128704104 555 H>Q No Ensembl
rs2128704110 555 H>R No Ensembl
rs2128704120 555 H>Y No Ensembl
rs2128704099 556 P>A No Ensembl
rs2128704087 556 P>H No Ensembl
rs2128704087 556 P>L No Ensembl
rs2128704087 556 P>R No Ensembl
rs2128704099 556 P>S No Ensembl
rs2128704075
TCGA novel
557 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2128704056 558 P>A No Ensembl
rs2128704044 558 P>L No Ensembl
rs2128704044 558 P>R No Ensembl
rs2128704056 558 P>S No Ensembl
rs2128704008 559 G>A No Ensembl
rs2128704008 559 G>D No Ensembl
rs2128704025 559 G>R No Ensembl
rs2128704025 559 G>S No Ensembl
rs2128704008 559 G>V No Ensembl
COSM95211
rs768790336
560 R>C Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs768790336 560 R>G No ExAC
TOPMed
gnomAD
rs145765584 560 R>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145765584 560 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145765584 560 R>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128703960 561 P>A No Ensembl
COSM421102
COSM4811787
COSM421101
rs199766618
561 P>L Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs199766618 561 P>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs199766618 561 P>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs2128703960 561 P>S No Ensembl
rs2128703960 561 P>T No Ensembl
rs2128703929 562 Q>E No Ensembl
rs2128703911 562 Q>H No Ensembl
rs2128703923 562 Q>L No Ensembl
rs1772865085 563 E>D No gnomAD
rs2128703885 563 E>K No Ensembl
rs2128703885 563 E>Q No Ensembl
rs2128703878 563 E>V No Ensembl
rs1414828115 564 L>F No TOPMed
gnomAD
rs2128703842 564 L>H No Ensembl
rs1414828115 564 L>I No TOPMed
gnomAD
rs2128703842 564 L>P No Ensembl
rs1414828115 564 L>V No TOPMed
gnomAD
rs142303126 565 S>L No ESP
ExAC
TOPMed
gnomAD
rs142303126 565 S>W No ESP
ExAC
TOPMed
gnomAD
rs2128703809 566 V>E No Ensembl
rs752182904 566 V>L No ExAC
gnomAD
rs752182904 566 V>M No ExAC
gnomAD
rs1772862569 567 L>P No Ensembl
rs372925583 567 L>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1262579913 568 F>S No TOPMed
gnomAD
rs1262579913 568 F>Y No TOPMed
gnomAD
rs2128703765 569 G>A No Ensembl
rs2128703765 569 G>D No Ensembl
rs2128703775 569 G>S No Ensembl
rs2128703765 569 G>V No Ensembl
rs751886816 570 S>F No ExAC
gnomAD
rs1011035461 570 S>P No TOPMed
gnomAD
rs1011035461 570 S>T No TOPMed
gnomAD
rs2128703729 571 H>L No Ensembl
rs1052612678 571 H>N No Ensembl
rs2128703724 571 H>Q No Ensembl
rs1052612678 571 H>Y No Ensembl
rs976221573 572 Q>* No TOPMed
gnomAD
rs2128703711 572 Q>H No Ensembl
rs976221573 572 Q>K No TOPMed
gnomAD
rs2128703700 573 A>P No Ensembl
rs2128703700 573 A>S No Ensembl
rs2128703700 573 A>T No Ensembl
rs2128703693 573 A>V No Ensembl
rs2128703670 574 L>H No Ensembl
rs2128703670 574 L>P No Ensembl
rs2128703680 574 L>V No Ensembl
rs2128703655 575 V>D No Ensembl
rs2128703655 575 V>G No Ensembl
rs2128703660 575 V>I No Ensembl
rs2128703660 575 V>L No Ensembl
COSM3157873
COSM3157872
rs2128703641
576 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2128703641 576 Q>E No Ensembl
rs2128703607 577 W>* No Ensembl
rs2128703615 577 W>* No Ensembl
rs2128703607 577 W>C No Ensembl
rs1582821593 577 W>G No Ensembl
rs2128703615 577 W>L No Ensembl
rs1582821593 577 W>R No Ensembl
rs2128703615 577 W>S No Ensembl
rs2128703602 578 K>* No Ensembl
rs2128703595 578 K>N No Ensembl
rs1261108140 579 P>A No gnomAD
rs2128703587 579 P>L No Ensembl
rs1261108140 579 P>S No gnomAD
rs1772858237 580 P>A No Ensembl
rs2128703570 580 P>L No Ensembl
rs1772858237 580 P>S No Ensembl
rs267600780 581 A>D No TOPMed
gnomAD
rs773651108 581 A>P No ExAC
gnomAD
rs773651108 581 A>S No ExAC
gnomAD
rs773651108 581 A>T No ExAC
gnomAD
rs267600780 581 A>V No TOPMed
gnomAD
rs2128703550 582 L>F No Ensembl
rs1582821484 582 L>P No Ensembl
rs2128703550 582 L>V No Ensembl
rs1264432555 583 A>D No gnomAD
rs1264432555 583 A>G No gnomAD
rs761911387 583 A>P No ExAC
TOPMed
gnomAD
rs761911387 583 A>S No ExAC
TOPMed
gnomAD
rs761911387 583 A>T No ExAC
TOPMed
gnomAD
rs1264432555 583 A>V No gnomAD
rs776624648 584 I>K No ExAC
TOPMed
gnomAD
rs2128703511 584 I>L No Ensembl
rs1772855734 585 G>* No gnomAD
rs2128703495 585 G>A No Ensembl
rs2128703495 585 G>E No Ensembl
rs1772855734 585 G>R No gnomAD
rs747302749 586 A>D No ExAC
TOPMed
gnomAD
rs747302749 586 A>G No ExAC
TOPMed
gnomAD
rs747302749 586 A>V No ExAC
TOPMed
gnomAD
rs185334662 587 N>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs185334662 587 N>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs2128703466 587 N>Y No Ensembl
rs2128701569 588 V>A No Ensembl
rs2128701583 588 V>I No Ensembl
rs2128701583 588 V>L No Ensembl
rs776770495 589 I>F No ExAC
gnomAD
rs1416061465 589 I>M No gnomAD
rs776770495 589 I>V No ExAC
gnomAD
rs764138686 590 L>P No ExAC
gnomAD
rs1442896981 591 I>M No gnomAD
rs2128701535 591 I>T No Ensembl
rs1772736986 591 I>V No TOPMed
gnomAD
rs2128701525 592 S>C No Ensembl
TCGA novel 592 S>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128701521 592 S>N No Ensembl
rs1398319876 592 S>R No gnomAD
rs2128701498 593 D>E No Ensembl
rs1330973277 593 D>N No TOPMed
gnomAD
rs1330973277 593 D>Y No TOPMed
gnomAD
rs2128701494 594 I>V No Ensembl
rs2128701479 595 I>F No Ensembl
rs1772735885 595 I>T No Ensembl
rs2128701456 596 E>* No Ensembl
rs2128701448 596 E>D No Ensembl
COSM450402 596 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128701456 596 E>Q No Ensembl
rs2128701452 596 E>V No Ensembl
rs775792027 597 L>F No ExAC
gnomAD
rs775792027 597 L>V No ExAC
gnomAD
rs749046164 598 F>L No ExAC
gnomAD
rs2128701421 599 E>A No Ensembl
rs1477984030 599 E>D No gnomAD
COSM1697835
rs867987684
COSM1697836
599 E>K Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
NCI-TCGA
rs2128701421 599 E>V No Ensembl
COSM4920963
COSM4920964
600 L>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128701409 600 L>F No Ensembl
rs1772734278 600 L>S No TOPMed
rs769737276 601 G>A No ExAC
gnomAD
rs2128701401 601 G>C No Ensembl
rs769737276 601 G>D No ExAC
gnomAD
rs2128701401 601 G>R No Ensembl
rs2128701401 601 G>S No Ensembl
rs769737276 601 G>V No ExAC
gnomAD
rs1438247113 602 P>A No gnomAD
rs2128701365 602 P>H No Ensembl
rs2128701365 602 P>L No Ensembl
rs2128701365 602 P>R No Ensembl
rs1438247113 602 P>S No gnomAD
rs1235934351 603 S>A No TOPMed
gnomAD
rs1713882489 603 S>C No TOPMed
rs1713882489 603 S>F No TOPMed
rs780736075 604 A>G No ExAC
gnomAD
rs1772732533 604 A>P No Ensembl
rs1772732533 604 A>S No Ensembl
rs1772732533 604 A>T No Ensembl
rs780736075 604 A>V No ExAC
gnomAD
rs2128701291 605 W>* No Ensembl
rs2128701303 605 W>* No Ensembl
rs2128701291 605 W>C No Ensembl
rs2128701309 605 W>R No Ensembl
rs2128701303 605 W>S No Ensembl
rs2128701283 606 Q>H No Ensembl
rs2128701278 607 N>D No Ensembl
rs2128701271 607 N>K No Ensembl
rs2128701278 607 N>Y No Ensembl
rs779640008 608 W>* No ExAC
TOPMed
gnomAD
rs1772730824 608 W>* No Ensembl
rs1772730824 608 W>C No Ensembl
rs779640008 608 W>L No ExAC
TOPMed
gnomAD
rs376165477 608 W>R No ESP
ExAC
TOPMed
gnomAD
rs779640008 608 W>S No ExAC
TOPMed
gnomAD
rs2128701235 609 T>I No Ensembl
rs2128701242 609 T>P No Ensembl
rs2128701235 609 T>S No Ensembl
rs750770442 610 Y>C No ExAC
gnomAD
rs750770442 610 Y>F No ExAC
gnomAD
rs2128701216 610 Y>N No Ensembl
rs1465868712 611 E>D No TOPMed
gnomAD
rs2128701201 611 E>G No Ensembl
rs2128701204 611 E>K No Ensembl
rs2128701204 611 E>Q No Ensembl
rs2128701201 611 E>V No Ensembl
rs2128701172 612 V>E No Ensembl
rs1357720968 612 V>L No gnomAD
rs779213880 613 K>E No ExAC
gnomAD
COSM1647865
COSM739472
COSM739471
rs1582817966
614 V>A lung [Cosmic] No cosmic curated
Ensembl
rs1582817966 614 V>E No Ensembl
rs1582817966 614 V>G No Ensembl
TCGA novel 614 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs757769588 615 S>A No ExAC
gnomAD
rs188607208 615 S>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs188607208 615 S>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs188607208 615 S>Y No 1000Genomes
ExAC
TOPMed
gnomAD
rs764706003 616 T>I No ExAC
TOPMed
gnomAD
rs764706003 616 T>S No ExAC
TOPMed
gnomAD
rs950724665 617 Q>* No TOPMed
gnomAD
rs950724665 617 Q>E No TOPMed
gnomAD
rs752848792 617 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs950724665 617 Q>K No TOPMed
gnomAD
rs1178195749 618 D>E No gnomAD
rs151183861
RCV000897120
618 D>G No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1438145481 618 D>H No TOPMed
gnomAD
rs1438145481 618 D>N No TOPMed
gnomAD
rs151183861 618 D>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1438145481 618 D>Y No TOPMed
gnomAD
rs1470291308 619 P>A No gnomAD
rs1772725760 619 P>H No gnomAD
rs1772725760 619 P>L No gnomAD
rs1772725760 619 P>R No gnomAD
rs1470291308 619 P>S No gnomAD
rs1234303360 620 P>A No TOPMed
gnomAD
rs2128701016 620 P>L No Ensembl
rs2128701016 620 P>R No Ensembl
rs1234303360 620 P>S No TOPMed
gnomAD
rs2128700988 621 E>D No Ensembl
COSM3619895
rs759714879
COSM3619896
621 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs759714879 621 E>Q No ExAC
gnomAD
rs2128700994 621 E>V No Ensembl
rs2128700970 622 V>D No Ensembl
rs2128700975 622 V>F No Ensembl
rs2128700970 622 V>G No Ensembl
TCGA novel 622 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128700975 622 V>L No Ensembl
rs1562349493 623 T>I No Ensembl
rs1562349493 623 T>S No Ensembl
rs1562349506 623 T>S No Ensembl
rs773053104 623 T>S No ExAC
TOPMed
gnomAD
rs2128700936 624 H>D No Ensembl
rs2128700936 624 H>N No Ensembl
rs2128700929 624 H>Q No Ensembl
rs769530508 624 H>R No ExAC
TOPMed
gnomAD
rs2128700936
TCGA novel
624 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2128700922 625 I>F No Ensembl
rs1280879862 625 I>N No gnomAD
rs1280879862 625 I>T No gnomAD
rs2128700899 626 F>I No Ensembl
rs776365305 626 F>L No ExAC
rs2128700897 626 F>Y No Ensembl
rs2128700888 627 L>* No Ensembl
rs2128700879 628 N>I No Ensembl
rs2128700872 628 N>K No Ensembl
rs2128700885 628 N>Y No Ensembl
rs1285043088 629 I>T No gnomAD
rs142877218 629 I>V No ESP
ExAC
TOPMed
gnomAD
rs1772722306 630 S>G No Ensembl
rs1224165751 630 S>N No TOPMed
gnomAD
rs2128700851 630 S>R No Ensembl
rs1224165751 630 S>T No TOPMed
gnomAD
rs1282664597 631 G>E No gnomAD
rs1375767478 631 G>R No TOPMed
gnomAD
rs148952125 632 T>I No ESP
ExAC
TOPMed
gnomAD
rs148952125 632 T>N No ESP
ExAC
TOPMed
gnomAD
rs148952125 632 T>S No ESP
ExAC
TOPMed
gnomAD
rs2128700805 633 M>I No Ensembl
rs2128700815 633 M>K No Ensembl
rs373150912 633 M>V No ESP
TOPMed
gnomAD
TCGA novel 634 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128700789 634 L>Q No Ensembl
rs2128700797 634 L>V No Ensembl
rs1418393917 635 N>D No gnomAD
rs2128700760 635 N>K No Ensembl
rs2128700765 635 N>S No Ensembl
rs2128700741 636 V>E No Ensembl
rs146800947 636 V>I No ESP
ExAC
TOPMed
gnomAD
rs146800947 636 V>L No ESP
ExAC
TOPMed
gnomAD
rs2128700718 637 P>A No Ensembl
rs2128700706 637 P>H No Ensembl
rs2128700706 637 P>R No Ensembl
rs2128700718 637 P>S No Ensembl
rs190237500 638 E>D No 1000Genomes
TOPMed
rs2128700682 638 E>G No Ensembl
rs745567393 638 E>K No ExAC
TOPMed
gnomAD
rs745567393 638 E>Q No ExAC
TOPMed
gnomAD
rs2128700682 638 E>V No Ensembl
rs2128700667 639 L>Q No Ensembl
rs2128700670 639 L>V No Ensembl
rs2128700650 640 Q>* No Ensembl
rs2128700650 640 Q>E No Ensembl
rs757498661 640 Q>H No ExAC
gnomAD
rs1772718414 640 Q>L No Ensembl
rs1772718414 640 Q>P No Ensembl
rs1772718414 640 Q>R No Ensembl
rs2128700628 641 S>I No Ensembl
rs2128700621 641 S>R No Ensembl
rs2128700609 642 A>G No Ensembl
rs2128700616 642 A>S No Ensembl
rs2128700616 642 A>T No Ensembl
rs2128700609 642 A>V No Ensembl
rs1772717502 643 M>I No TOPMed
rs2128700593 643 M>K No Ensembl
rs1772717785 643 M>V No Ensembl
rs2128700569 645 Y>* No Ensembl
rs1772717255 645 Y>C No TOPMed
rs1772717255 645 Y>F No TOPMed
rs2128700581 645 Y>N No Ensembl
rs2128700560 646 K>E No Ensembl
rs2128700550 646 K>M No Ensembl
rs1257591659 646 K>N No gnomAD
rs2128700550 646 K>R No Ensembl
rs1189533164 647 V>G No gnomAD
rs2128700541 647 V>L No Ensembl
rs754263972 648 S>C No ExAC
TOPMed
gnomAD
rs754263972 648 S>F No ExAC
TOPMed
gnomAD
rs2128700506 649 V>E No Ensembl
rs2128700512 649 V>L No Ensembl
rs2128700512 649 V>M No Ensembl
rs756738703 650 R>* No ExAC
gnomAD
rs991348240 650 R>T No Ensembl
rs1287908780 651 A>E No gnomAD
rs1287908780 651 A>G No gnomAD
rs959532375 651 A>S No TOPMed
gnomAD
rs959532375 651 A>T No TOPMed
gnomAD
rs752789600 652 S>I No ExAC
gnomAD
rs752789600 652 S>N No ExAC
gnomAD
rs767768845 652 S>R No ExAC
gnomAD
VAR_041449
RCV000883933
rs34203286
653 S>F No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2128700458 653 S>T No Ensembl
rs2128700440 654 P>Q No Ensembl
rs768882618 654 P>S No ExAC
TOPMed
gnomAD
rs1290003301 655 K>E No gnomAD
rs1463259574 655 K>N No TOPMed
rs766626912 655 K>R No ExAC
TOPMed
gnomAD
rs950981570 656 R>S No gnomAD
rs1668481562 657 P>R No TOPMed
rs2128700412 657 P>S No Ensembl
rs755395111 658 G>D No Ensembl
rs1025709504
COSM3619890
COSM3619889
658 G>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
rs2128700390 659 P>A No Ensembl
rs1772711497 659 P>L No TOPMed
rs993831048 660 W>* No Ensembl
rs2128700369 660 W>L No Ensembl
rs1772710525 661 S>* No TOPMed
rs1772710525 661 S>L No TOPMed
rs9489143 662 E>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1234660715 663 P>S No gnomAD
rs1234660715 663 P>T No gnomAD
rs1166433247 664 S>L No gnomAD
TCGA novel 665 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs776432501 666 G>D No ExAC
gnomAD
rs1772709248 666 G>S No gnomAD
rs776432501 666 G>V No ExAC
gnomAD
rs1772708278 667 T>I No Ensembl
rs768558296 668 T>A No ExAC
TOPMed
gnomAD
rs2128700244 671 P>A No Ensembl
rs2128700244 671 P>S No Ensembl
rs1197748682 672 A>D No TOPMed
gnomAD
rs1197748682 672 A>V No TOPMed
gnomAD
rs767522283 674 E>K No ExAC
gnomAD
rs2128698834 675 P>S No Ensembl
rs1455451657 676 P>Q No TOPMed
gnomAD
rs2128698815 679 M>T No Ensembl
rs1772635464 679 M>V No gnomAD
TCGA novel 680 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128698805 680 A>V No Ensembl
rs200174940 681 V>G No gnomAD
rs1298220220 681 V>M No gnomAD
rs78135931 682 K>E No Ensembl
COSM1072605
COSM4865496
682 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
COSM3619885
COSM3619886
682 K>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1772634109 684 D>G No Ensembl
rs1772634374 684 D>N No TOPMed
rs773963225 685 G>E No ExAC
gnomAD
rs758924871 685 G>R No ExAC
TOPMed
gnomAD
rs770462582 686 L>F No ExAC
gnomAD
rs986408020 688 S>C No Ensembl
rs749011714 688 S>N No ExAC
TOPMed
gnomAD
rs1772631970 688 S>R No TOPMed
rs924678775 690 P>A No TOPMed
gnomAD
rs1418694067 690 P>L No gnomAD
rs924678775 690 P>S No TOPMed
gnomAD
rs924678775 690 P>T No TOPMed
gnomAD
rs773694464 691 L>S No ExAC
TOPMed
gnomAD
rs770223989 692 N>D No ExAC
gnomAD
rs748525048 694 F>S No ExAC
gnomAD
rs2128698647 695 G>V No Ensembl
rs144476736 696 P>A No ESP
ExAC
TOPMed
gnomAD
rs756401492 696 P>L No Ensembl
rs1350752092 697 G>A No gnomAD
rs1350752092 697 G>E No gnomAD
rs139359697 698 E>K No ESP
ExAC
TOPMed
gnomAD
rs1772628057 699 F>V No gnomAD
rs1021788151 699 F>Y No TOPMed
gnomAD
rs747038362 700 L>S No ExAC
gnomAD
rs150866859 701 S>P No ESP
TOPMed
gnomAD
rs150866859 701 S>T No ESP
TOPMed
gnomAD
rs979171969 703 D>V No Ensembl
rs758536297 704 I>T No ExAC
TOPMed
gnomAD
rs1307288773 704 I>V No TOPMed
gnomAD
COSM1722624
rs868430526
COSM1722625
705 G>E NS [Cosmic] No cosmic curated
Ensembl
rs2128698546 709 D>N No Ensembl
rs772072753 710 M>T No ExAC
TOPMed
gnomAD
rs148214833 710 M>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1443464945 711 D>G No TOPMed
gnomAD
rs745980825
COSM1647867
COSM739476
711 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs779059461 713 Y>C No ExAC
TOPMed
gnomAD
COSM4783165
COSM1440088
COSM1440087
rs779059461
713 Y>F Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
ExAC
TOPMed
gnomAD
rs1237169331 714 N>K No TOPMed
rs868736129 714 N>S No TOPMed
gnomAD
rs1281615431 715 N>D No TOPMed
rs1582811825 715 N>T No Ensembl
rs1044819500 716 S>N No Ensembl
rs752460038 716 S>R No ExAC
gnomAD
rs2128696952 717 L>F No Ensembl
rs1336317487
COSM1072600
COSM4866065
COSM1072602
718 Y>* Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1772532255 719 Y>C No TOPMed
rs781112268 719 Y>D No ExAC
gnomAD
rs754861620 720 S>G No ExAC
gnomAD
rs1656690011 721 D>N No TOPMed
COSM4435153
rs372637439
COSM4435152
722 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1192547872 723 K>I No TOPMed
gnomAD
rs2128696887 724 G>C No Ensembl
rs368540212 725 D>E No ESP
ExAC
TOPMed
gnomAD
rs764959275 725 D>H No ExAC
TOPMed
gnomAD
rs764959275
COSM277105
COSM3157852
COSM277104
725 D>N kidney Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs761597558 725 D>V No ExAC
gnomAD
rs764959275 725 D>Y No ExAC
TOPMed
gnomAD
rs776027945 726 V>F No ExAC
TOPMed
gnomAD
rs776027945
COSM3157851
COSM3157850
726 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs776027945 726 V>L No ExAC
TOPMed
gnomAD
COSM95209
rs1476008353
727 F>S lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs1166225687 729 W>C No TOPMed
gnomAD
rs1772527807 729 W>L No TOPMed
rs199693780 731 L>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1197137422 731 L>P No gnomAD
rs199693780 731 L>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1772525882 733 G>E No gnomAD
COSM3619884
COSM3619883
rs745928815
733 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs1772525882 733 G>V No gnomAD
rs779006477 734 T>M No ExAC
TOPMed
gnomAD
rs779006477 734 T>R No ExAC
TOPMed
gnomAD
rs575172787 735 D>A No 1000Genomes
ExAC
gnomAD
rs2128696696 735 D>E No Ensembl
rs575172787 735 D>G No 1000Genomes
ExAC
gnomAD
rs1270271107 735 D>N No gnomAD
rs1339970861 736 I>N No gnomAD
rs2128696666 737 S>* No Ensembl
TCGA novel 738 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2128696649
COSM202096
COSM202097
738 E>D large_intestine [Cosmic] No cosmic curated
Ensembl
COSM1647869
COSM739480
738 E>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128696658 738 E>Q No Ensembl
rs1231753319 740 Y>* No TOPMed
gnomAD
rs2128696626 741 H>L No Ensembl
rs754731646 741 H>Q No ExAC
TOPMed
gnomAD
rs777867372 741 H>Y No ExAC
TOPMed
gnomAD
COSM4874285
COSM1072599
742 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1772522469 742 L>P No TOPMed
rs779989121 743 P>H No ExAC
TOPMed
gnomAD
rs779989121 743 P>L No ExAC
TOPMed
gnomAD
COSM1292191
rs1334242622
COSM1292190
743 P>S haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
gnomAD
rs1334242622 743 P>T No gnomAD
rs2128696595 744 S>I No Ensembl
rs2128696595 744 S>N No Ensembl
rs758457911 744 S>R No ExAC
TOPMed
gnomAD
rs749919362 745 I>L No ExAC
gnomAD
rs764906451 745 I>N No ExAC
gnomAD
rs764906451 745 I>T No ExAC
gnomAD
rs1396060666 746 A>S No gnomAD
rs1396060666 746 A>T No gnomAD
rs2128696560
COSM3619882
COSM3619881
746 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1772520151 747 G>E No TOPMed
TCGA novel 748 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs753464937 748 A>V No ExAC
gnomAD
rs1582811221 749 G>E No Ensembl
rs2128696525 750 A>S No Ensembl
rs761052833 751 L>F No ExAC
rs1772518339 751 L>S No gnomAD
rs775768999 754 E>K No ExAC
gnomAD
rs372359152 755 W>* No ESP
ExAC
gnomAD
rs1328235226 755 W>* No TOPMed
rs1328235226 755 W>C No TOPMed
rs372359152 755 W>L No ESP
ExAC
gnomAD
rs760105730 755 W>R No ExAC
rs1347143996 756 L>V No gnomAD
rs773440188 758 H>D No ExAC
rs542174827 759 F>L No 1000Genomes
ExAC
gnomAD
rs141715386 760 L>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141715386
RCV000968602
760 L>I No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs745858708 760 L>P No ExAC
gnomAD
rs745858708 760 L>R No ExAC
gnomAD
rs2128696416 761 Y>* No Ensembl
rs1311205624 761 Y>C No TOPMed
gnomAD
rs1376640341 762 W>L No gnomAD
rs761749336 762 W>R No ExAC
gnomAD
rs1772513586 763 A>D No TOPMed
rs1772513586 763 A>G No TOPMed
rs2128696396 763 A>T No Ensembl
rs1175898010 764 G>* No TOPMed
gnomAD
rs1175898010 764 G>R No TOPMed
gnomAD
rs368679172 764 G>V No ESP
TOPMed
rs147011370 765 K>N No ESP
TOPMed
rs1405296671 766 T>I No TOPMed
gnomAD
rs753311379 766 T>S No ExAC
gnomAD
rs763782411 767 Y>* No ExAC
TOPMed
gnomAD
rs2128696360 767 Y>C No Ensembl
rs1010874419 768 V>L No gnomAD
rs1562342854 769 I>T No Ensembl
rs1562342866 769 I>V No Ensembl
rs529695010 770 Q>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs529695010 770 Q>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs745689107 772 Q>P No ExAC
gnomAD
rs778946384 773 S>C No ExAC
TOPMed
gnomAD
rs778946384 773 S>F No ExAC
TOPMed
gnomAD
rs2128693078 774 V>M No Ensembl
rs565705980 775 L>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs149313880 776 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs149313880 776 T>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1772320905 776 T>S No TOPMed
rs2128693046 777 G>R No Ensembl
rs2128693030 778 H>Q No Ensembl
rs2128693042 778 H>Y No Ensembl
rs1772320170 779 T>A No TOPMed
rs2128693016 779 T>I No Ensembl
COSM1496215
COSM1496216
rs201235239
780 D>E Variant assessed as Somatic; MODERATE impact. kidney [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
gnomAD
rs2128693007 780 D>H No Ensembl
COSM3157843
COSM1072596
780 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs767165414 781 I>V No ExAC
gnomAD
rs1271113755 782 V>A No gnomAD
rs1271113755 782 V>D No gnomAD
rs755291346 782 V>F No ExAC
TOPMed
gnomAD
rs755291346 782 V>I No ExAC
TOPMed
gnomAD
rs1341994272 783 T>I No TOPMed
rs532316698 784 H>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs1582804554 784 H>Y No Ensembl
rs763408803 785 V>L No ExAC
TOPMed
gnomAD
rs763408803 785 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2128692913 787 L>I No Ensembl
COSM739482
COSM1647870
789 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs750511195 789 V>L No ExAC
gnomAD
rs750511195 789 V>M No ExAC
gnomAD
rs34582164
RCV000971532
VAR_049712
790 N>S No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs761966360 791 D>N No ExAC
gnomAD
rs2128692877 791 D>V No Ensembl
COSM4160150
COSM4160151
rs140511382
RCV000896640
792 M>I thyroid [Cosmic] No cosmic curated
ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1426636306 792 M>V No gnomAD
rs769023640 793 V>M No ExAC
TOPMed
rs2128692839 794 V>M No Ensembl
rs2128692821 796 S>L No Ensembl
rs111621779 797 V>A No ESP
ExAC
TOPMed
gnomAD
rs111621779 797 V>D No ESP
ExAC
TOPMed
gnomAD
rs2128692803 797 V>F No Ensembl
rs2128692803 797 V>I No Ensembl
rs2128692785 798 G>C No Ensembl
rs2128692775 799 G>E No Ensembl
rs1772314649 799 G>R No TOPMed
rs1040006908 801 L>F No Ensembl
rs1040006908 801 L>I No Ensembl
rs759565527 802 Y>* No ExAC
TOPMed
rs1193257514 803 W>* No TOPMed
gnomAD
rs200615700 804 T>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000882242
rs200615700
804 T>N No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1159939787 805 T>A No TOPMed
rs1772312157 806 L>F No TOPMed
rs1772312157 806 L>I No TOPMed
rs145036129 807 Y>C No ESP
ExAC
gnomAD
rs1772311416
COSM3619879
COSM3619880
808 S>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs1307375070 809 V>L No TOPMed
gnomAD
rs1772310913 810 E>K No Ensembl
rs748595080 811 S>G No Ensembl
rs780771072 812 T>A No ExAC
TOPMed
gnomAD
rs1772310191 813 R>G No Ensembl
rs779132348 813 R>I No Ensembl
rs1772309691 813 R>S No Ensembl
COSM1672709
rs1216622336
COSM1672708
814 L>I haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
gnomAD
rs1216622336 814 L>V No gnomAD
rs914246389 815 N>S No Ensembl
rs1465256284 816 G>R No TOPMed
rs751888809 817 E>* No ExAC
gnomAD
COSM4537689
COSM4537690
817 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs751888809 817 E>Q No ExAC
gnomAD
rs780347313 818 S>C No ExAC
gnomAD
rs780347313 818 S>G No ExAC
gnomAD
rs2128692570 818 S>N No Ensembl
rs2128692570 818 S>T No Ensembl
rs2128692553 819 S>F No Ensembl
rs1371334533 819 S>T No gnomAD
rs2128692537 820 L>F No Ensembl
rs1772306735 820 L>P No TOPMed
rs544407860 821 V>I No TOPMed
gnomAD
rs544407860 821 V>L No TOPMed
gnomAD
rs924426086 822 L>P No TOPMed
gnomAD
rs924426086 822 L>R No TOPMed
gnomAD
rs1353818269 823 Q>* No gnomAD
rs2128692499 823 Q>H No Ensembl
rs765778935 824 T>A No ExAC
gnomAD
rs761936637 825 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs761936637 825 Q>K No ExAC
TOPMed
gnomAD
rs1772304690 825 Q>P No TOPMed
gnomAD
rs2128692461 826 P>A No Ensembl
rs1682914708 827 W>* No Ensembl
rs2128692446 830 G>V No Ensembl
rs1454855400 831 K>E No gnomAD
rs1269764595 831 K>N No TOPMed
gnomAD
rs1374573342 832 K>E No TOPMed
gnomAD
rs981224591 832 K>N No TOPMed
gnomAD
rs36029166 832 K>R Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs769788471 834 I>V No ExAC
TOPMed
gnomAD
rs1771908926 836 L>P No Ensembl
rs1771908926 836 L>R No Ensembl
rs1274193277 837 T>A No TOPMed
rs370903490 837 T>N No ESP
ExAC
TOPMed
gnomAD
rs1418777494 838 L>S No gnomAD
rs1157208285 838 L>V No TOPMed
gnomAD
rs199731317 839 D>E No ESP
ExAC
TOPMed
gnomAD
rs780718091 839 D>H No ExAC
gnomAD
rs780718091 839 D>N No ExAC
gnomAD
rs1484966865 840 L>F No gnomAD
rs1771904828 840 L>H No TOPMed
rs1771904828 840 L>P No TOPMed
rs746721106 841 S>R No ExAC
gnomAD
rs1771904350 842 D>G No TOPMed
rs2128685170 842 D>Y No Ensembl
rs2128685156 843 G>R No Ensembl
rs1211997454 844 L>F No TOPMed
gnomAD
rs1211997454 844 L>I No TOPMed
gnomAD
rs201920657 846 Y>C No ExAC
TOPMed
gnomAD
rs201920657 846 Y>S No ExAC
TOPMed
gnomAD
rs779266768 847 W>* No ExAC
TOPMed
gnomAD
rs779266768 847 W>C No ExAC
TOPMed
gnomAD
rs1771902550 847 W>L No TOPMed
rs61729670 847 W>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs757880878 848 L>W No ExAC
gnomAD
rs1353443254 849 V>I No gnomAD
rs764329833 850 Q>* No ExAC
gnomAD
COSM739486
COSM1647872
850 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel 853 Q>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 853 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
COSM4992419
COSM4992418
854 C>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1460047377 855 I>F No Ensembl
TCGA novel 855 I>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1771900046 856 H>Q No Ensembl
COSM3619878
COSM3619877
856 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs752798332 857 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
rs1771899359 857 L>R No TOPMed
rs767816340 858 Y>* No ExAC
gnomAD
rs762602217 859 T>K No ExAC
TOPMed
gnomAD
rs1231286589 860 A>D No TOPMed
gnomAD
rs1771897924 861 V>A No TOPMed
rs2128684955
COSM3619874
COSM3619873
862 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1161406135 862 L>P No gnomAD
rs146533107 863 R>G No ESP
ExAC
TOPMed
gnomAD
rs142979736 863 R>L No ESP
ExAC
TOPMed
gnomAD
rs142979736 863 R>Q No ESP
ExAC
TOPMed
gnomAD
COSM1072591
COSM3619872
rs146533107
COSM1072593
863 R>W Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3619870
rs768095857
COSM3619871
865 Q>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
VAR_041450 865 Q>H a lung large cell carcinoma sample; somatic mutation [UniProt] No UniProt
COSM1440079
COSM1440080
rs776103430
865 Q>R large_intestine [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs979014772 866 S>N No TOPMed
gnomAD
rs934233893 866 S>R No TOPMed
rs1358315577 867 T>A No gnomAD
rs767616403 869 D>N No ExAC
TOPMed
gnomAD
rs755272149 869 D>V No ExAC
gnomAD
rs922898650 870 T>A No TOPMed
rs973411916 870 T>I No TOPMed
gnomAD
rs973411916 870 T>N No TOPMed
gnomAD
rs750183711 871 T>A No ExAC
gnomAD
rs1370586180 873 T>I No gnomAD
rs1780227164 874 E>A No TOPMed
rs765076581 875 F>S No ExAC
rs963388678 875 F>V No Ensembl
rs539820527 876 A>T No 1000Genomes
ExAC
gnomAD
rs2128662668 876 A>V No Ensembl
TCGA novel 877 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1780225719 877 A>S No Ensembl
rs2128662654 877 A>V No Ensembl
rs1394879221 878 W>* No gnomAD
rs2128662640 878 W>L No Ensembl
rs776486332 878 W>R No ExAC
gnomAD
rs760081041 879 S>N No ExAC
gnomAD
rs760081041 879 S>T No ExAC
gnomAD
rs775105679 880 T>A No ExAC
gnomAD
rs2128662598 880 T>I No Ensembl
rs1172204797 881 S>* No gnomAD
rs1562321708 883 I>T No Ensembl
rs146570171
COSM109622
884 S>F skin [Cosmic] No cosmic curated
Ensembl
rs1780221892 885 Q>R No TOPMed
rs117865341 887 A>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs369516763 888 L>Q No ESP
ExAC
TOPMed
gnomAD
rs369516763 888 L>R No ESP
ExAC
TOPMed
gnomAD
rs1476549252 889 M>I No TOPMed
gnomAD
rs763350500 889 M>K No Ensembl
rs1452840689 889 M>L No TOPMed
gnomAD
rs763350500 889 M>R No Ensembl
rs1248261976 890 Y>C No gnomAD
rs1780219326 890 Y>D No Ensembl
COSM95208
rs749698242
891 Y>C lung [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs749698242 891 Y>F No ExAC
TOPMed
gnomAD
rs557592852 891 Y>H No 1000Genomes
ExAC
TOPMed
gnomAD
rs1240882470 892 S>G No gnomAD
rs1240882470 892 S>R No gnomAD
rs778372043 893 G>C No ExAC
gnomAD
rs2128662421 893 G>D No Ensembl
rs2128662421 893 G>V No Ensembl
rs748148750 894 R>G No ExAC
TOPMed
gnomAD
rs535778217 894 R>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs535778217 894 R>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs748148750 894 R>W No ExAC
TOPMed
gnomAD
rs1780216629 896 F>L No TOPMed
rs866590541 897 W>* No gnomAD
rs866590541 897 W>C No gnomAD
rs1410939393 897 W>R No gnomAD
rs1780215163 898 I>V No Ensembl
rs1255849184 899 N>D No gnomAD
rs2128662310 900 G>D No Ensembl
rs2128662310 900 G>V No Ensembl
rs1374376426 901 F>L No TOPMed
gnomAD
rs1780213284 902 R>M No Ensembl
rs780260360 903 I>M No ExAC
TOPMed
gnomAD
rs751748673 903 I>V No ExAC
gnomAD
rs1780211548 904 I>M No Ensembl
rs1030521764 904 I>S No TOPMed
gnomAD
rs1030521764 904 I>T No TOPMed
gnomAD
rs984585547 905 T>I No TOPMed
rs984585547 905 T>R No TOPMed
rs757007505 906 T>I No ExAC
gnomAD
rs1361557179 908 E>Q No gnomAD
rs1780209755 909 I>L No TOPMed
rs763987499 909 I>T No ExAC
TOPMed
gnomAD
rs1316079381 910 G>C No TOPMed
gnomAD
rs371677605 910 G>D No ESP
ExAC
TOPMed
gnomAD
rs371677605 910 G>V No ESP
ExAC
TOPMed
gnomAD
rs1314684858 911 Q>E No TOPMed
rs2128662162 913 T>S No Ensembl
rs1357348863 915 V>A No TOPMed
rs2128662138 917 V>I No Ensembl
COSM4864798
COSM1072590
919 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs774104513 920 P>A No ExAC
gnomAD
rs2128662104 920 P>L No Ensembl
rs774104513 920 P>S No ExAC
gnomAD
rs2128662081 921 A>P No Ensembl
rs2128662081 921 A>S No Ensembl
rs2128662081 921 A>T No Ensembl
rs2128662073 921 A>V No Ensembl
rs368975857 922 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
NCI-TCGA
TOPMed
gnomAD
rs368975857 922 R>K No ESP
TOPMed
gnomAD
rs1780204616 925 Q>H No TOPMed
rs1780205071 925 Q>K No TOPMed
rs770726875 925 Q>P No ExAC
TOPMed
gnomAD
rs770726875 925 Q>R No ExAC
TOPMed
gnomAD
rs1203951044 927 T>K No TOPMed
gnomAD
rs1339675608 929 I>V No TOPMed
gnomAD
rs2128662003 930 Q>R No Ensembl
rs145830106 931 T>A No ESP
ExAC
TOPMed
gnomAD
rs145830106 931 T>S No ESP
ExAC
TOPMed
gnomAD
rs748750515 932 S>A No 1000Genomes
ExAC
gnomAD
COSM3828893
COSM3828894
932 S>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs781566302 935 P>H No ExAC
gnomAD
rs768716438 937 P>T No ExAC
TOPMed
gnomAD
COSM3157824
COSM3157823
938 G>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128661919 938 G>R No Ensembl
rs2128661290 938 G>V No Ensembl
rs750031784 939 N>D No ExAC
gnomAD
rs2128661250 939 N>K No Ensembl
rs764831115 939 N>S No ExAC
gnomAD
rs750031784 939 N>Y No ExAC
gnomAD
rs2128661247 940 F>L No Ensembl
rs2128661245 940 F>S No Ensembl
COSM228087 941 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs558256028 941 S>P No 1000Genomes
ExAC
gnomAD
rs1780160191 942 F>L No TOPMed
rs115534545
RCV000912448
942 F>L No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs764657413 943 T>A No ExAC
gnomAD
rs2128661194 943 T>I No Ensembl
rs2128661194 943 T>S No Ensembl
rs764657413 943 T>S No ExAC
gnomAD
rs2128661158 944 P>R No Ensembl
rs2128661174 944 P>S No Ensembl
rs999670889 945 K>* No TOPMed
rs999670889 945 K>E No TOPMed
rs140885860 945 K>N No ESP
TOPMed
TCGA novel 945 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs147172890 946 V>F No ESP
ExAC
TOPMed
gnomAD
rs2128661118 946 V>G No Ensembl
rs147172890 946 V>I No ESP
ExAC
TOPMed
gnomAD
rs147172890 946 V>L No ESP
ExAC
TOPMed
gnomAD
rs2128661115 947 I>F No Ensembl
rs2128661108 947 I>T No Ensembl
rs1169032817 948 P>A No gnomAD
rs774580552 948 P>L No ExAC
TOPMed
gnomAD
rs774580552 948 P>Q No ExAC
TOPMed
gnomAD
rs774580552 948 P>R No ExAC
TOPMed
gnomAD
rs1169032817 948 P>S No gnomAD
rs2128661083 949 D>H No Ensembl
rs2128661075 949 D>V No Ensembl
rs2128661083
TCGA novel
949 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1251397232 950 S>A No gnomAD
rs2128661063 950 S>C No Ensembl
rs2128661063 950 S>F No Ensembl
rs2128661040 951 V>D No Ensembl
rs1780157829 951 V>F No Ensembl
rs1780157829 951 V>I No Ensembl
rs1780157829 951 V>L No Ensembl
rs2128661021 952 Q>* No Ensembl
rs2128661021 952 Q>E No Ensembl
rs2128660999 953 E>D No Ensembl
rs2128661012 953 E>Q No Ensembl
rs2128661003 953 E>V No Ensembl
rs2128660984 954 S>C No Ensembl
rs2128660984 954 S>F No Ensembl
rs2128660995 954 S>T No Ensembl
rs2128660984 954 S>Y No Ensembl
rs2128660967 955 S>* No Ensembl
rs2128660967 955 S>L No Ensembl
rs2128660973 955 S>P No Ensembl
rs2128660950 957 R>G No Ensembl
rs771104079 957 R>K No ExAC
gnomAD
rs771104079 957 R>M No ExAC
gnomAD
rs191810593 957 R>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs2128660950 957 R>W No Ensembl
rs754956947 958 I>F No ExAC
gnomAD
rs754956947 958 I>V No ExAC
gnomAD
rs2229078 959 E>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1780156917 959 E>K No gnomAD
rs1780156917 959 E>Q No gnomAD
rs866331955 960 G>* No Ensembl
rs868806134 960 G>A No Ensembl
rs868806134 960 G>E No Ensembl
rs866331955 960 G>R No Ensembl
TCGA novel 961 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128660848 961 N>K No Ensembl
rs1562320406 961 N>S No Ensembl
rs2128660866 961 N>Y No Ensembl
TCGA novel 962 A>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TCGA novel
rs2128660832
962 A>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs780146524 962 A>P No ExAC
gnomAD
rs780146524 962 A>S No ExAC
gnomAD
rs780146524 962 A>T No ExAC
gnomAD
rs2128660832 962 A>V No Ensembl
rs1780155274 963 S>* No Ensembl
rs1780155274 963 S>L No Ensembl
rs1275770178 964 S>C No gnomAD
rs1275770178 964 S>G No gnomAD
rs2128660789 964 S>I No Ensembl
rs2128660789 964 S>N No Ensembl
rs2128660782 964 S>R No Ensembl
rs2128660789 964 S>T No Ensembl
rs2128660766 965 F>L No Ensembl
rs1231099518 965 F>L No gnomAD
rs2128660752 966 Q>* No Ensembl
rs2128660752 966 Q>E No Ensembl
rs371626074 966 Q>R No ESP
ExAC
TOPMed
gnomAD
rs764921433 967 I>M No ExAC
gnomAD
rs2128660726 967 I>N No Ensembl
rs2128660701 968 L>P No Ensembl
rs2128660707 968 L>V No Ensembl
rs2128660664 969 W>* No Ensembl
COSM1264497
COSM1264498
rs2128660655
969 W>C oesophagus [Cosmic] No cosmic curated
Ensembl
rs2128660674 969 W>R No Ensembl
rs2128660664 969 W>S No Ensembl
rs756900916 970 N>K No ExAC
gnomAD
rs2128660648 970 N>T No Ensembl
rs2128660629 971 G>A No Ensembl
rs199835491 971 G>C No ExAC
gnomAD
rs2128660629 971 G>D No Ensembl
rs1369931780 972 P>A No gnomAD
rs761029946 972 P>H No ExAC
gnomAD
rs761029946 972 P>L No ExAC
gnomAD
rs761029946 972 P>R No ExAC
gnomAD
rs1369931780 972 P>S No gnomAD
rs1369931780 972 P>T No gnomAD
rs2128660579 973 P>A No Ensembl
rs917101052 973 P>L No TOPMed
gnomAD
rs917101052 973 P>R No TOPMed
gnomAD
rs2128660579 973 P>S No Ensembl
rs2128660579 973 P>T No Ensembl
rs759586931 974 A>G No ExAC
TOPMed
gnomAD
rs376831258 974 A>P No ExAC
TOPMed
gnomAD
rs376831258 974 A>S No ExAC
TOPMed
gnomAD
rs376831258 974 A>T No ExAC
TOPMed
gnomAD
rs759586931 974 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2128660533 975 V>E No Ensembl
rs2128660545 975 V>I No Ensembl
rs2128660545 975 V>L No Ensembl
rs749533554 976 D>A No ExAC
TOPMed
gnomAD
rs2128660497 976 D>E No Ensembl
rs749533554 976 D>G No ExAC
TOPMed
gnomAD
rs771176235 976 D>H No ExAC
TOPMed
gnomAD
rs771176235 976 D>N No ExAC
TOPMed
gnomAD
rs749533554 976 D>V No ExAC
TOPMed
gnomAD
rs771176235 976 D>Y No ExAC
TOPMed
gnomAD
rs2128660476 977 W>* No Ensembl
TCGA novel
rs2128660472
977 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2128660472 977 W>C No Ensembl
rs2128660488 977 W>G No Ensembl
rs2128660476 977 W>L No Ensembl
rs2128660488 977 W>R No Ensembl
rs370129182 978 G>A No ESP
ExAC
gnomAD
rs978782444 978 G>C No TOPMed
gnomAD
rs370129182 978 G>D No ESP
ExAC
gnomAD
rs978782444 978 G>R No TOPMed
gnomAD
rs978782444 978 G>S No TOPMed
gnomAD
rs370129182 978 G>V No ESP
ExAC
gnomAD
rs139467403 979 V>A No ESP
ExAC
TOPMed
gnomAD
rs139467403 979 V>E No ESP
ExAC
TOPMed
gnomAD
rs1780150593 979 V>I No Ensembl
rs1780150593 979 V>L No Ensembl
rs2128660414 980 V>I No Ensembl
rs2128660414 980 V>L No Ensembl
rs746834710 981 F>L No ExAC
gnomAD
rs2128660373 982 Y>* No Ensembl
rs1255828711 982 Y>* No gnomAD
COSM6104786
COSM594205
COSM594206
rs2128660381
COSM1650494
COSM6104787
982 Y>F lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
Ensembl
rs2128660391 982 Y>N No Ensembl
rs2128660381 982 Y>S No Ensembl
rs2128660359 983 S>N No Ensembl
rs374498314 983 S>R No ESP
ExAC
gnomAD
rs2128660359 983 S>T No Ensembl
rs2128660340 984 V>E No Ensembl
rs1780149722 985 E>K No Ensembl
rs1780149722 985 E>Q No Ensembl
rs2128660312 986 F>Y No Ensembl
rs2128660277 987 S>N No Ensembl
rs2128660277 987 S>T No Ensembl
rs147350512 988 A>G No ESP
ExAC
TOPMed
gnomAD
rs1562320184 988 A>P No Ensembl
rs147350512 988 A>V No ESP
ExAC
TOPMed
gnomAD
rs747041649 989 H>R No TOPMed
gnomAD
COSM3920642
COSM3920643
989 H>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs756804061 990 S>C No ExAC
gnomAD
rs756804061 990 S>Y No ExAC
gnomAD
rs1780147707 991 K>E No Ensembl
rs753364114 991 K>N No ExAC
gnomAD
COSM1329343
rs1287346255
COSM1329344
992 F>L ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
gnomAD
NCI-TCGA Cosmic
rs1456965447 994 A>G No gnomAD
rs1456965447
COSM387705
COSM387706
994 A>V lung [Cosmic] No cosmic curated
gnomAD
rs1780117442 995 S>R No Ensembl
COSM1722623
COSM1722622
996 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1444061608 997 Q>* No TOPMed
gnomAD
rs1444061608 997 Q>E No TOPMed
gnomAD
rs772131519 997 Q>R No ExAC
gnomAD
rs943452007 998 H>R No Ensembl
rs2128659447 998 H>Y No Ensembl
rs1780115455 999 S>C No Ensembl
rs778913413 999 S>P No ExAC
TOPMed
gnomAD
rs778913413 999 S>T No ExAC
TOPMed
gnomAD
rs1368425429 1000 L>F No TOPMed
gnomAD
rs2128659369 1001 P>L No Ensembl
rs1028345885 1001 P>T No TOPMed
rs770304963 1002 V>A No ExAC
TOPMed
gnomAD
rs2128659365 1002 V>I No Ensembl
rs1257766314 1004 T>I No TOPMed
gnomAD
rs2128659352 1006 E>* No Ensembl
rs748850729 1007 G>E No ExAC
TOPMed
rs141385549 1007 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
NCI-TCGA
TOPMed
gnomAD
rs748850729 1007 G>V No ExAC
TOPMed
rs777378778 1009 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs755801647 1009 E>V No ExAC
gnomAD
rs200278757 1010 P>A No ESP
ExAC
TOPMed
gnomAD
rs200278757 1010 P>S No ESP
ExAC
TOPMed
gnomAD
rs200278757 1010 P>T No ESP
ExAC
TOPMed
gnomAD
rs1302519741 1011 Y>* No TOPMed
gnomAD
rs141171688 1011 Y>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141171688 1011 Y>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs781590553 1011 Y>H No ExAC
gnomAD
rs1780111403 1012 A>T No TOPMed
rs751947980 1012 A>V No ExAC
TOPMed
gnomAD
rs766943523 1013 L>F No ExAC
gnomAD
rs1323268309 1014 F>L No gnomAD
rs2128659258 1015 N>I No Ensembl
rs1295211193 1016 L>F No TOPMed
gnomAD
rs2128659235 1017 S>F No Ensembl
rs1434611083 1017 S>P No TOPMed
gnomAD
TCGA novel 1018 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1366263868 1019 T>I No gnomAD
COSM3374025
COSM3374024
1020 P>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs762895148 1021 Y>C No ExAC
TOPMed
gnomAD
rs1285354534 1022 T>I No TOPMed
rs1285354534 1022 T>S No TOPMed
rs1385190956 1023 Y>* No gnomAD
rs2128659151 1024 W>C No Ensembl
rs1780108004 1024 W>G No TOPMed
rs1780108004 1024 W>R No TOPMed
rs750566587
COSM3619865
COSM3619864
1025 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs2128659143 1025 G>V No Ensembl
rs765527922 1026 K>* No ExAC
gnomAD
rs765527922 1026 K>E No ExAC
gnomAD
RCV000912447
rs143148482
1026 K>M No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
RCV000897322
rs149513638
1027 G>D No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1381266956 1029 K>E No gnomAD
RCV000736227
rs770947269
1030 T>A No ClinVar
ExAC
dbSNP
TCGA novel 1031 S>I Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs748712887 1032 L>P No ExAC
gnomAD
COSM229019
rs772772410
COSM229020
COSM3928055
1035 R>* Variant assessed as Somatic; HIGH impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
rs769418999 1035 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs2128659032 1036 A>T No Ensembl
rs1780103139 1036 A>V No Ensembl
rs2128659009 1037 P>H No Ensembl
rs747744775 1037 P>S No ExAC
gnomAD
rs1489445418 1038 E>A No gnomAD
TCGA novel 1038 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128658993 1038 E>Q No Ensembl
rs755260953 1040 V>F No ExAC
TOPMed
gnomAD
rs755260953 1040 V>I No ExAC
TOPMed
gnomAD
rs1185167609 1041 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1185167609 1041 P>T No gnomAD
rs747095069 1043 A>P No ExAC
TOPMed
gnomAD
rs747095069
COSM314880
COSM314879
1043 A>S lung [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs747095069 1043 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs756422681 1047 P>T No ExAC
gnomAD
rs1779917967 1048 R>S No Ensembl
rs1327147007 1049 I>M No gnomAD
rs751294687 1051 I>T No ExAC
gnomAD
rs1779917011
COSM3777050
COSM3777051
1051 I>V Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
TOPMed
rs2128655485 1052 L>* No Ensembl
rs766135828 1052 L>F No ExAC
TOPMed
gnomAD
rs534570805 1053 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1282740458 1054 S>G No gnomAD
rs1327113707 1055 G>A No TOPMed
gnomAD
rs2128655436 1057 C>F No Ensembl
rs200648331 1057 C>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs1210694550 1058 C>Y No Ensembl
rs1339445079 1059 N>K No TOPMed
gnomAD
rs765184541 1060 K>E No ExAC
TOPMed
gnomAD
rs746698627 1061 N>D No gnomAD
rs1582741918 1061 N>S No Ensembl
rs761293495 1062 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs2128655385 1063 V>D No Ensembl
rs1779913382 1064 V>A No gnomAD
rs2128655379 1064 V>L No Ensembl
rs776246659 1065 V>A No ExAC
TOPMed
gnomAD
rs776246659 1065 V>E No ExAC
TOPMed
gnomAD
rs1779912617 1066 E>* No gnomAD
rs1779912617 1066 E>Q No gnomAD
TCGA novel 1067 F>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1779912143 1068 R>T No TOPMed
rs1779911466 1069 W>* No Ensembl
rs1779911032 1070 N>K No Ensembl
rs2128655309 1071 K>E No Ensembl
rs1258683387 1071 K>N No TOPMed
gnomAD
rs1475745760 1073 K>M No TOPMed
rs1159595080 1074 H>P No TOPMed
TCGA novel 1076 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs61729673 1077 G>A No ESP
ExAC
gnomAD
rs61729673 1077 G>E No ESP
ExAC
gnomAD
rs902648185 1077 G>R No TOPMed
rs61729673 1077 G>V No ESP
ExAC
gnomAD
rs1463744260 1078 V>E No gnomAD
rs1458536244 1078 V>L No TOPMed
gnomAD
rs1458536244 1078 V>M No TOPMed
gnomAD
COSM277098 1081 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1779906931 1081 K>R No Ensembl
COSM3619860
COSM3619861
1083 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs771605740 1084 I>T No ExAC
gnomAD
rs193271148 1084 I>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1041559440 1085 F>L No Ensembl
rs777710055 1086 Y>C No TOPMed
gnomAD
rs1357481298 1087 N>S No gnomAD
rs1779904625 1088 I>L No TOPMed
rs777962826 1088 I>M No ExAC
gnomAD
rs145056487 1088 I>T No ESP
ExAC
TOPMed
gnomAD
rs1779904625 1088 I>V No TOPMed
COSM1647873
COSM739489
COSM739488
rs1319247583
1089 S>C lung [Cosmic] No cosmic curated
gnomAD
rs1319247583 1089 S>F No gnomAD
rs772396536 1090 N>D No ExAC
TOPMed
gnomAD
rs1582741417 1090 N>S No TOPMed
rs781304519 1091 Q>E No ExAC
TOPMed
gnomAD
rs781304519 1091 Q>K No ExAC
TOPMed
gnomAD
rs1404760277 1091 Q>L No TOPMed
gnomAD
rs1404760277 1091 Q>P No TOPMed
gnomAD
rs1404760277
COSM1180436
COSM1180437
1091 Q>R prostate [Cosmic] No cosmic curated
TOPMed
gnomAD
COSM3619858
COSM3619859
rs2128655040
1092 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2128655030 1093 I>T No Ensembl
rs758142339 1093 I>V No ExAC
gnomAD
rs765131630 1095 N>D No ExAC
TOPMed
gnomAD
RCV000959656
rs115286894
1095 N>I No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs765131630 1095 N>Y No ExAC
TOPMed
gnomAD
rs2128654983 1099 E>Q No Ensembl
COSM1440078
COSM4784548
1100 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1486897923 1100 D>N No gnomAD
rs1779900810 1100 D>V No Ensembl
COSM1720295
COSM1720294
rs200145587
1101 W>* NS [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs200145587 1101 W>C No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1409023701 1101 W>R No TOPMed
gnomAD
rs867263615 1102 I>S No gnomAD
rs867263615 1102 I>T No gnomAD
rs760109353 1103 A>G No ExAC
gnomAD
rs2128654942 1103 A>T No Ensembl
rs760109353 1103 A>V No ExAC
gnomAD
rs2128654932 1104 V>F No Ensembl
rs1452738796 1105 N>H No TOPMed
gnomAD
rs775158731 1105 N>S No ExAC
TOPMed
gnomAD
rs759947584 1106 V>A No ExAC
TOPMed
gnomAD
rs1779899006 1106 V>I No gnomAD
rs774918950 1107 T>P No ExAC
gnomAD
rs992780681 1107 T>S No gnomAD
rs2128654871 1108 P>* No Ensembl
rs754292558
COSM1697831
COSM1697832
1108 P>L skin [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
COSM1720293
COSM1720292
1108 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128654853 1108 P>T No Ensembl
VAR_030650
rs2229079
1109 S>L No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1191924885 1110 V>L No TOPMed
gnomAD
rs1191924885 1110 V>M No TOPMed
gnomAD
rs1779896417 1111 M>T No Ensembl
rs1477759913 1111 M>V No gnomAD
rs375027302 1113 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2128654771 1114 Q>* No Ensembl
rs1304686859 1115 L>V No gnomAD
rs2128654750 1118 M>K No Ensembl
rs1427586364 1118 M>L No gnomAD
TCGA novel 1118 M>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1427586364 1118 M>V No gnomAD
rs2128654739 1119 S>I No Ensembl
rs2128654739 1119 S>N No Ensembl
TCGA novel 1120 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs748201668 1121 R>G No ExAC
COSM1072587
COSM4872449
1121 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128654717 1121 R>S No Ensembl
rs150397191 1121 R>T No ESP
ExAC
TOPMed
gnomAD
COSM5813293
COSM5813292
1122 C>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs755237907 1122 C>W No ExAC
gnomAD
rs1562316462 1123 F>I No TOPMed
rs1779894539 1123 F>S No Ensembl
rs750215153 1126 F>S No ExAC
TOPMed
gnomAD
rs2128654674 1127 Q>R No Ensembl
COSM739491
COSM1647874
1129 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs757007708 1130 A>S No ExAC
gnomAD
TCGA novel 1132 T>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs767073922 1133 S>C No ExAC
TOPMed
gnomAD
rs767073922 1133 S>F No ExAC
TOPMed
gnomAD
rs1779703269 1134 K>E No Ensembl
rs142442666 1135 G>A No ESP
ExAC
TOPMed
gnomAD
rs142442666 1135 G>E No ESP
ExAC
TOPMed
gnomAD
rs151330473 1135 G>R No ESP
ExAC
TOPMed
gnomAD
rs1779701479 1136 P>L No Ensembl
rs1312405953 1136 P>S No Ensembl
rs2128650395 1137 G>A No Ensembl
rs2128650409 1137 G>R No Ensembl
rs2128650367 1139 Y>F No Ensembl
rs140926672 1141 D>E No 1000Genomes
ESP
ExAC
gnomAD
rs752818337 1141 D>N No Ensembl
rs777135627 1142 V>F No ExAC
TOPMed
gnomAD
rs777135627 1142 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
COSM4949238
COSM1440076
1143 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1179127158 1143 V>G No TOPMed
gnomAD
rs768658324 1143 V>I No ExAC
gnomAD
rs1452552506 1144 K>R No TOPMed
gnomAD
rs1007387781 1145 S>T No TOPMed
rs2128650279 1146 T>A No Ensembl
rs2128650269 1146 T>K No Ensembl
rs375496236 1147 T>I No ESP
ExAC
TOPMed
gnomAD
rs1429075405 1148 S>P No TOPMed
gnomAD
rs775665843 1149 E>* No ExAC
gnomAD
COSM594208
COSM594207
COSM1650495
rs775665843
1149 E>K lung [Cosmic] No cosmic curated
ExAC
gnomAD
rs779824765 1150 I>V No ExAC
gnomAD
COSM3857805
COSM3857806
1152 P>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1311786162 1154 P>L No gnomAD
COSM3619855
COSM3619854
1154 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs762243820 1155 H>Y No ExAC
TOPMed
gnomAD
rs1439883984 1157 I>M No TOPMed
rs2128649134 1158 T>I No Ensembl
rs1434469853 1159 L>F No gnomAD
rs2128649092 1161 G>C No Ensembl
rs2128649084 1161 G>V No Ensembl
rs1779652984 1162 N>S No TOPMed
gnomAD
rs775612586 1163 K>M No ExAC
TOPMed
gnomAD
TCGA novel 1163 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs760713115 1163 K>Q No ExAC
TOPMed
gnomAD
rs775612586 1163 K>R No ExAC
TOPMed
gnomAD
rs772324949 1164 I>K No 1000Genomes
ExAC
gnomAD
rs772324949 1164 I>T No 1000Genomes
ExAC
gnomAD
rs1444817510 1164 I>V No gnomAD
rs759618879 1165 V>A No ExAC
TOPMed
gnomAD
COSM1440074
COSM3157786
rs748436511
1167 L>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
COSM1440072
COSM5143985
rs748436511
1167 L>F Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
rs1278003360 1167 L>S No TOPMed
rs1779650281 1168 D>E No TOPMed
rs2128648997 1168 D>H No Ensembl
rs2128648997 1168 D>Y No Ensembl
rs769432383 1169 M>T No ExAC
TOPMed
gnomAD
rs1779650070 1169 M>V No Ensembl
rs2128648967 1173 Q>E No Ensembl
rs2128648957 1173 Q>L No Ensembl
rs747975385 1174 V>I No ExAC
gnomAD
rs1779649150 1175 V>L No gnomAD
rs1779649150 1175 V>M No gnomAD
COSM1440070
rs370524859
COSM1440069
COSM4782966
1177 T>M Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2128648907 1178 F>S No Ensembl
rs2128648907 1178 F>Y No Ensembl
rs2128648897 1179 S>L No Ensembl
rs2128648869 1180 A>G No Ensembl
rs887790221 1180 A>P No TOPMed
gnomAD
rs887790221
COSM1072581
COSM3920641
COSM1072579
1180 A>T Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs2128648869 1180 A>V No Ensembl
rs1038505092 1181 E>G No Ensembl
rs1440893130 1181 E>K No Ensembl
TCGA novel 1181 E>V Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1228020371 1182 R>S No gnomAD
rs2128648828 1183 V>I No Ensembl
rs1390676503 1185 S>G No TOPMed
gnomAD
rs1304093001 1185 S>N No TOPMed
gnomAD
rs1390676503 1185 S>R No TOPMed
gnomAD
rs377528980 1186 A>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1366995131 1186 A>V No gnomAD
rs749977900 1187 V>F No ExAC
TOPMed
gnomAD
rs749977900 1187 V>I No ExAC
TOPMed
gnomAD
rs1779644374 1189 Y>C No TOPMed
rs778659970 1189 Y>N No ExAC
gnomAD
rs986632095 1190 T>I No Ensembl
rs1395082157 1190 T>P No TOPMed
gnomAD
rs754239222 1191 A>P No ExAC
TOPMed
gnomAD
rs754239222 1191 A>T No ExAC
TOPMed
gnomAD
rs1440151759 1192 D>G No TOPMed
rs2128648711 1192 D>N No Ensembl
COSM3857804
COSM3857803
1192 D>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128648711 1192 D>Y No Ensembl
rs764578818 1193 N>D No ExAC
TOPMed
gnomAD
rs2128648676 1193 N>I No Ensembl
rs144455439 1193 N>K No ESP
ExAC
TOPMed
gnomAD
rs764578818 1193 N>Y No ExAC
TOPMed
gnomAD
rs753216129 1194 E>K No ExAC
gnomAD
rs767426303 1195 M>I No ExAC
gnomAD
rs567175783 1195 M>T No gnomAD
rs142826369 1196 G>* No ExAC
TOPMed
gnomAD
TCGA novel
rs1779640971
1196 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
COSM109716
rs142826369
1196 G>R skin [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs2128648616 1199 A>V No Ensembl
rs1213277193 1201 G>R No TOPMed
gnomAD
rs2128648592 1201 G>V No Ensembl
rs1213277193 1201 G>W No TOPMed
gnomAD
rs774383914 1202 D>G No ExAC
gnomAD
rs1231203749 1202 D>Y No TOPMed
gnomAD
rs1054726851 1203 S>L No TOPMed
gnomAD
rs1779639321 1203 S>T No Ensembl
rs1407363767 1204 L>F No gnomAD
rs761671299 1206 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1779637694 1206 L>P No TOPMed
rs2128648484 1208 H>L No Ensembl
rs35302901 1209 L>* No ESP
ExAC
TOPMed
gnomAD
rs201618389 1210 H>P No 1000Genomes
ExAC
gnomAD
rs2128648459 1210 H>Y No Ensembl
rs746889818 1211 N>S No ExAC
COSM284675 1211 N>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs780046038 1212 R>C No ExAC
TOPMed
gnomAD
COSM1072578
rs771443531
COSM4874720
COSM1072576
1212 R>H Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771443531 1212 R>P No ExAC
TOPMed
gnomAD
rs780046038 1212 R>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1249324272 1213 S>C No TOPMed
gnomAD
rs1779634540 1214 S>C No TOPMed
rs1181216517 1214 S>N No gnomAD
rs1181216517 1214 S>T No gnomAD
rs1779634100 1215 S>T No TOPMed
gnomAD
rs2128648369 1216 E>K No Ensembl
TCGA novel 1218 F>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs907999496 1219 Q>R No Ensembl
rs1779474622 1220 D>V No gnomAD
TCGA novel 1221 S>H Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs777430404 1221 S>L No ExAC
gnomAD
rs1282834794 1221 S>T No gnomAD
rs781517393 1223 V>D No ExAC
gnomAD
rs748591196 1223 V>F No ExAC
TOPMed
gnomAD
rs1459800881 1225 D>N No gnomAD
rs755577962 1229 I>T No ExAC
TOPMed
gnomAD
rs2128645864 1230 T>I No Ensembl
rs766512849 1231 I>S No ExAC
TOPMed
gnomAD
rs766512849 1231 I>T No ExAC
TOPMed
gnomAD
rs1779470889 1231 I>V No TOPMed
rs1161261865 1232 D>G No TOPMed
gnomAD
rs550870633 1232 D>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs550870633 1232 D>Y No 1000Genomes
ExAC
TOPMed
gnomAD
rs1239630506 1233 W>* No gnomAD
rs1779468824 1233 W>C No TOPMed
rs1444191883 1234 I>T No gnomAD
rs1488238763 1234 I>V No TOPMed
gnomAD
rs558769547 1236 R>M No Ensembl
rs376300326 1238 L>I No ESP
TOPMed
gnomAD
rs765579396 1238 L>P No ExAC
TOPMed
gnomAD
rs765579396 1238 L>R No ExAC
TOPMed
gnomAD
rs56192249 1239 Y>C No 1000Genomes
ExAC
TOPMed
gnomAD
VAR_041451
rs56192249
1239 Y>F No UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs1027270934 1241 A>E No TOPMed
gnomAD
rs1027270934 1241 A>V No TOPMed
gnomAD
rs767342486 1243 K>R No ExAC
gnomAD
COSM4866627
COSM1072575
1244 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1779465754 1244 E>K No TOPMed
rs994551577 1245 S>L No TOPMed
rs905591135 1246 Q>H No TOPMed
gnomAD
TCGA novel 1247 N>M Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1456027028 1248 G>R No TOPMed
gnomAD
rs770388201 1249 M>I No ExAC
TOPMed
gnomAD
rs774159081 1249 M>K No ExAC
TOPMed
gnomAD
rs774159081 1249 M>T No ExAC
TOPMed
gnomAD
rs2128645742 1251 V>I No Ensembl
TCGA novel 1252 F>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs772825686 1252 F>I No ExAC
gnomAD
rs772825686 1252 F>V No ExAC
gnomAD
rs1779461956 1253 D>G No TOPMed
rs923546663 1254 V>A No TOPMed
gnomAD
rs373788450 1257 E>Q No ESP
TOPMed
rs769474033 1258 H>L No ExAC
gnomAD
rs1215089429 1260 V>M No TOPMed
gnomAD
rs976398256 1261 K>R No Ensembl
rs2128645685
COSM2153171
COSM2153170
1263 P>H Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
COSM5960067
COSM5960066
1264 R>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs866824848 1265 E>D No TOPMed
rs1779459474 1265 E>K No TOPMed
gnomAD
rs1779459474 1265 E>Q No TOPMed
gnomAD
rs1223560262 1266 V>M No TOPMed
gnomAD
rs1562310695 1267 K>N No Ensembl
rs1779457836 1268 I>F No Ensembl
rs369902845 1268 I>N No ESP
gnomAD
rs369902845 1268 I>S No ESP
gnomAD
COSM3619853
COSM3619852
1268 I>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs781664984 1272 N>S No ExAC
gnomAD
COSM3619851
COSM3619850
1273 S>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1490594972 1274 T>A No TOPMed
gnomAD
rs895672289 1274 T>R No TOPMed
rs768919164 1275 I>V No ExAC
TOPMed
gnomAD
rs1418866423 1276 I>F No gnomAD
rs1324096328 1276 I>T No TOPMed
gnomAD
rs1779454795 1277 S>C No Ensembl
COSM225584
rs1779454795
COSM225583
1277 S>F NS [Cosmic] No cosmic curated
Ensembl
rs751309238 1278 F>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs780738813 1281 Y>* No ExAC
TOPMed
gnomAD
rs747487272 1281 Y>D No ExAC
gnomAD
rs138034064 1282 P>H No ESP
ExAC
TOPMed
gnomAD
rs138034064 1282 P>L No ESP
ExAC
TOPMed
gnomAD
COSM3619848
COSM3619849
rs1052987141
1282 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs750581358 1283 L>F No ExAC
TOPMed
gnomAD
rs750581358 1283 L>I No ExAC
TOPMed
gnomAD
rs779247154 1284 L>S No ExAC
gnomAD
rs199725375 1286 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs373090808
COSM3157781
COSM3157780
1286 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373090808 1286 R>L No ESP
ExAC
TOPMed
gnomAD
rs373090808 1286 R>P No ESP
ExAC
TOPMed
gnomAD
rs199725375 1286 R>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs2128644490 1287 L>M No Ensembl
rs2128644490 1287 L>V No Ensembl
rs1481438598 1288 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs369009006 1289 W>* No ESP
TOPMed
gnomAD
rs754776601 1291 E>D No ExAC
gnomAD
rs777881304 1291 E>G No ExAC
gnomAD
rs754051395 1291 E>K No ExAC
TOPMed
gnomAD
rs754051395 1291 E>Q No ExAC
TOPMed
gnomAD
COSM3619847
COSM3619846
1293 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1221206742 1294 N>D No Ensembl
COSM1072570
COSM1072572
rs1779361336
COSM4864649
1294 N>S Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
gnomAD
rs918200907 1295 F>I No TOPMed
gnomAD
rs563695654 1295 F>L No 1000Genomes
ExAC
gnomAD
rs575502427 1295 F>Y No 1000Genomes
ExAC
gnomAD
rs1562309446 1296 G>C No Ensembl
rs762938706 1296 G>D No ExAC
TOPMed
gnomAD
rs762938706 1296 G>V No ExAC
TOPMed
gnomAD
rs1779359915 1297 Y>C No TOPMed
rs764738348 1299 M>I No ExAC
TOPMed
gnomAD
rs750376505 1299 M>R No ExAC
TOPMed
gnomAD
rs750376505 1299 M>T No ExAC
TOPMed
gnomAD
rs1453485026 1301 Y>C No gnomAD
rs1408460393 1302 Y>C No gnomAD
rs1346133891 1305 I>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1346133891 1305 I>T No TOPMed
gnomAD
rs2128644314 1306 S>N No Ensembl
rs1779357345 1307 H>R No Ensembl
rs768246519 1309 L>V No ExAC
gnomAD
rs772575534 1310 H>L No ExAC
gnomAD
rs772575534 1310 H>R No ExAC
gnomAD
rs761092788 1310 H>Y No ExAC
gnomAD
rs1008170196 1311 R>* No TOPMed
gnomAD
rs62430836 1311 R>L No ExAC
TOPMed
gnomAD
rs62430836 1311 R>P No ExAC
TOPMed
gnomAD
rs62430836
COSM1072567
COSM1072569
1311 R>Q Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2128644235 1314 Q>* No Ensembl
rs2128644230 1314 Q>L No Ensembl
rs2128644222 1315 P>S No Ensembl
rs1779355056 1316 T>A No Ensembl
rs2128644195 1317 A>S No Ensembl
rs2128644192 1317 A>V No Ensembl
rs1779354843 1318 T>I No gnomAD
rs2128644175 1319 N>K No Ensembl
rs2128644168 1320 Q>* No Ensembl
rs1779354403 1320 Q>R No TOPMed
gnomAD
rs1203284336 1321 Q>* No TOPMed
gnomAD
rs1203284336 1321 Q>E No TOPMed
gnomAD
rs968500864 1321 Q>R No TOPMed
gnomAD
rs1779353314 1322 N>K No Ensembl
rs1779353119 1323 K>I No Ensembl
rs1779352896 1324 R>G No TOPMed
COSM1072566
COSM4868613
1324 R>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1779352678
COSM1072563
COSM4874673
COSM1072561
1324 R>S Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No cosmic curated
TOPMed
NCI-TCGA Cosmic
rs770990202 1326 Q>* No ExAC
gnomAD
rs749376024 1326 Q>R No ExAC
gnomAD
rs2128644098 1327 C>F No Ensembl
rs756357483 1327 C>R No ExAC
TOPMed
gnomAD
rs2128644098 1327 C>Y No Ensembl
rs2128644095 1328 S>F No Ensembl
rs1385042218 1329 C>F No gnomAD
rs2128644078 1330 N>K No Ensembl
rs2128644075 1332 T>S No Ensembl
COSM3619845
COSM3619844
1333 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1438970357 1334 F>I No Ensembl
rs2128644057 1335 E>* No Ensembl
rs779769013 1335 E>D No ExAC
gnomAD
rs1779350765 1335 E>G No TOPMed
rs145742603 1336 L>I No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1192485576 1337 S>R No TOPMed
gnomAD
rs1402555599 1340 M>I No TOPMed
gnomAD
rs553278368 1340 M>K No 1000Genomes
ExAC
TOPMed
gnomAD
rs553278368 1340 M>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1456727448 1341 A>D No gnomAD
rs765109582 1341 A>T No ExAC
gnomAD
rs1456727448 1341 A>V No gnomAD
rs1365408486 1343 D>G No gnomAD
rs2128643992 1343 D>H No Ensembl
rs2128643992
COSM4900320
COSM4900319
1343 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1779346071 1344 T>A No Ensembl
rs368099011 1344 T>N No TOPMed
gnomAD
rs2128643959 1347 L>I No Ensembl
rs1162533892 1347 L>R No gnomAD
COSM1440067
COSM1440068
rs1779344251
1348 E>D large_intestine [Cosmic] No cosmic curated
TOPMed
COSM483327
COSM483328
COSM1645902
rs2128643931
1350 P>Q kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs2128643936 1350 P>S No Ensembl
rs2128643908 1351 L>F No Ensembl
rs934940589 1351 L>V No gnomAD
rs923571332 1352 I>V No Ensembl
rs35269727
VAR_041452
1353 Y>S No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 1354 F>L Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2128643880 1355 A>D No Ensembl
rs2128643880 1355 A>V No Ensembl
rs1779340755 1357 A>P No TOPMed
rs1779340755 1357 A>T No TOPMed
rs1188265810 1358 Q>L No TOPMed
gnomAD
rs1188265810 1358 Q>R No TOPMed
gnomAD
rs760464623 1359 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1779339431 1359 E>G No TOPMed
rs775283285 1360 I>F No ExAC
gnomAD
rs2128643816 1360 I>M No Ensembl
rs2128643800 1361 W>L No Ensembl
rs1361880790 1361 W>R No TOPMed
gnomAD
rs2128643795 1362 A>G No Ensembl
rs1226824505 1363 M>I No TOPMed
gnomAD
rs1249622633 1363 M>V No TOPMed
gnomAD
rs2128643786 1364 D>N No Ensembl
rs372697979 1365 L>V No ESP
TOPMed
gnomAD
COSM1731133
rs759998400
COSM1731132
1366 E>* liver [Cosmic] No cosmic curated
ExAC
gnomAD
rs1562308913 1366 E>G No Ensembl
rs759998400 1366 E>Q No ExAC
gnomAD
rs1304190335 1367 G>D No TOPMed
gnomAD
rs1304190335 1367 G>V No TOPMed
gnomAD
rs949132311 1368 C>S No TOPMed
gnomAD
rs774895292 1368 C>S No ExAC
gnomAD
rs949132311 1368 C>Y No TOPMed
gnomAD
rs2128643708 1369 Q>E No Ensembl
rs771382014 1369 Q>H No ExAC
gnomAD
rs1373192508 1370 C>F No gnomAD
rs36106063
VAR_041453
1370 C>R No UniProt
Ensembl
dbSNP
rs1373192508 1370 C>S No gnomAD
rs1373192508 1370 C>Y No gnomAD
rs2128643672 1371 W>L No Ensembl
rs200679820 1372 R>* No 1000Genomes
ExAC
TOPMed
gnomAD
rs200679820 1372 R>G No 1000Genomes
ExAC
TOPMed
gnomAD
COSM1544589
COSM1663954
1374 I>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs773222044 1375 T>I No ExAC
gnomAD
rs773222044 1375 T>R No ExAC
gnomAD
rs769929206 1376 V>A No ExAC
TOPMed
gnomAD
rs2128643651 1376 V>I No Ensembl
rs368568897 1377 P>A No ESP
ExAC
TOPMed
gnomAD
rs781424868 1377 P>L No ExAC
TOPMed
gnomAD
rs781424868 1377 P>R No ExAC
TOPMed
gnomAD
rs368568897 1377 P>S No ESP
ExAC
TOPMed
gnomAD
rs2128643619 1378 A>T No Ensembl
rs758140275 1379 M>I No ExAC
TOPMed
gnomAD
rs1248711517 1379 M>V No gnomAD
rs745716185 1380 L>= Variant assessed as Somatic; LOW impact. [NCI-TCGA] No NCI-TCGA
rs2128643606 1380 L>V No Ensembl
rs779854799 1381 A>P No ExAC
gnomAD
rs779854799 1381 A>T No ExAC
gnomAD
rs746109140 1383 K>E No Ensembl
rs754735161 1383 K>I No ExAC
gnomAD
rs183156700 1384 T>P No 1000Genomes
ExAC
gnomAD
COSM3619843
COSM3619842
1384 T>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs766583476 1385 L>I No ExAC
gnomAD
rs763408577 1386 V>I No ExAC
gnomAD
rs1396897004 1387 S>N No TOPMed
gnomAD
rs1396897004 1387 S>T No TOPMed
gnomAD
rs2128638276 1389 T>I No Ensembl
rs1444059505 1389 T>P No gnomAD
rs1243900066 1390 V>M No gnomAD
rs750846787 1391 D>V No ExAC
TOPMed
gnomAD
rs1206111595 1391 D>Y No gnomAD
rs2128638237 1392 G>E No Ensembl
rs891479903 1392 G>R No Ensembl
rs765782172 1393 D>E No ExAC
TOPMed
gnomAD
TCGA novel
rs1779016748
1393 D>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1405707094 1393 D>V No TOPMed
gnomAD
rs1206124997 1394 L>F No TOPMed
gnomAD
rs1206124997 1394 L>I No TOPMed
gnomAD
rs1052769795 1394 L>P No TOPMed
gnomAD
rs1206124997 1394 L>V No TOPMed
gnomAD
rs1779015011 1395 I>M No TOPMed
gnomAD
rs1779014775 1396 Y>H No Ensembl
rs1287692177 1397 W>* No gnomAD
rs761853713 1397 W>R No ExAC
gnomAD
rs1381396919 1400 T>R No gnomAD
rs2128638141 1401 A>T No Ensembl
rs138678303 1402 K>E No ESP
ExAC
gnomAD
rs1779012704 1403 D>G No TOPMed
rs2128638128 1403 D>H No Ensembl
rs1779012416 1404 S>I No TOPMed
rs1779012416 1404 S>N No TOPMed
rs150274045 1405 T>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs770579061 1405 T>I No ExAC
gnomAD
rs770579061 1405 T>R No ExAC
gnomAD
rs1469221153 1406 Q>H No TOPMed
gnomAD
rs1779011487 1406 Q>R No TOPMed
gnomAD
rs1207686047 1408 Y>N No TOPMed
gnomAD
rs2128638072 1409 Q>* No Ensembl
rs2128638057 1409 Q>H No Ensembl
rs2128638066 1409 Q>R No Ensembl
rs1582710410 1410 A>E No Ensembl
rs2128638048 1410 A>T No Ensembl
rs1217876302 1412 K>Q No gnomAD
rs2128637999 1413 G>A No Ensembl
COSM1697829
rs2128637999
COSM1697830
1413 G>E Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs928456849 1413 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
TCGA novel 1415 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128637993 1415 G>W No Ensembl
rs2128637968 1416 A>G No Ensembl
TCGA novel 1416 A>P Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2128637975 1416 A>S No Ensembl
rs2128637975 1416 A>T No Ensembl
rs2128637968 1416 A>V No Ensembl
TCGA novel 1418 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs777817381 1418 V>I No ExAC
TOPMed
gnomAD
rs1385882714 1419 S>C No gnomAD
rs1385882714 1419 S>F No gnomAD
rs1183678053 1420 Q>H No gnomAD
rs1779007923 1421 V>A No TOPMed
rs2128637922 1421 V>M No Ensembl
rs2128637905 1422 K>M No Ensembl
COSM3857801
COSM3857802
1422 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1418282255 1423 A>G No TOPMed
gnomAD
rs374701749 1423 A>T No ESP
ExAC
TOPMed
gnomAD
rs1418282255 1423 A>V No TOPMed
gnomAD
rs2128637865 1425 R>T No Ensembl
rs1779006730 1425 R>W No Ensembl
rs1779006296 1426 S>N No Ensembl
rs1779006110 1426 S>R No TOPMed
rs2128637833 1428 H>Q No Ensembl
rs1779005905 1429 I>V No TOPMed
rs1358301021 1431 A>G No TOPMed
gnomAD
rs1312975656 1431 A>P No gnomAD
rs1312975656 1431 A>T No gnomAD
rs1358301021 1431 A>V No TOPMed
gnomAD
rs1779004353 1432 Y>C No gnomAD
rs867268246 1432 Y>H No Ensembl
rs751133474 1433 S>G No ExAC
TOPMed
gnomAD
rs2128637776 1433 S>N No Ensembl
rs2128637774 1434 S>* No Ensembl
rs2128637767 1435 V>I No Ensembl
rs779780358 1436 M>I No ExAC
TOPMed
gnomAD
rs1229565223 1436 M>T No gnomAD
rs2128637733 1437 Q>* No Ensembl
rs1779003031 1437 Q>R No Ensembl
rs758668577 1438 P>A No ExAC
gnomAD
rs948632310 1438 P>R No TOPMed
gnomAD
VAR_030651
rs17079086
1439 F>S No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs765733079
COSM1697828
COSM1697827
1440 P>L skin [Cosmic] No cosmic curated
ExAC
gnomAD
COSM1072557
rs867084033
COSM3157753
COSM1072555
1440 P>S Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs147732228 1441 D>G No ESP
ExAC
TOPMed
gnomAD
rs2128637679 1441 D>N No Ensembl
rs2128637679 1441 D>Y No Ensembl
rs2128626380 1442 K>N No Ensembl
rs376021394 1443 A>E No ExAC
TOPMed
gnomAD
rs376021394 1443 A>G No ExAC
TOPMed
gnomAD
rs1452299600 1443 A>T No TOPMed
rs376021394 1443 A>V No ExAC
TOPMed
gnomAD
rs2128626356 1444 F>C No Ensembl
COSM1645904
COSM483324
1445 L>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1480952819 1446 S>F No gnomAD
rs2128626335 1447 L>P No Ensembl
TCGA novel 1447 L>Q Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs756112469 1447 L>V No ExAC
rs1435575705 1448 A>V No TOPMed
rs752884684 1450 D>G No ExAC
TOPMed
gnomAD
rs752884684 1450 D>V No ExAC
TOPMed
gnomAD
COSM3429912
COSM3429911
1450 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1192560596 1451 T>A No TOPMed
gnomAD
rs1192560596 1451 T>S No TOPMed
gnomAD
rs1778188118 1452 V>M No TOPMed
rs2128626289 1453 E>G No Ensembl
rs2128626295 1453 E>Q No Ensembl
rs2128626281 1454 P>A No Ensembl
rs2128626275 1454 P>L No Ensembl
rs2128626281 1454 P>S No Ensembl
rs767620506 1455 T>A No ExAC
gnomAD
rs2128626262 1455 T>I No Ensembl
rs1231753858 1456 I>T No TOPMed
gnomAD
rs759746491 1457 L>V No ExAC
gnomAD
rs2128626226 1459 A>P No Ensembl
rs2128626226 1459 A>S No Ensembl
COSM739499
COSM1647876
1459 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs765083865 1459 A>V No ExAC
TOPMed
gnomAD
rs761724280 1462 T>A No ExAC
TOPMed
gnomAD
rs1312553343 1463 S>N No TOPMed
gnomAD
rs1778183426 1464 L>I No TOPMed
rs1303212090 1465 T>A No gnomAD
TCGA novel 1466 I>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs551574654 1467 R>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs2128626167 1468 L>F No Ensembl
rs533175529 1469 P>L No 1000Genomes
TOPMed
gnomAD
rs533175529 1469 P>R No 1000Genomes
TOPMed
gnomAD
rs746497124 1470 L>R No ExAC
gnomAD
rs1404057865 1471 A>T No TOPMed
gnomAD
rs1778181537 1473 T>P No TOPMed
rs1308794945 1474 N>D No TOPMed
gnomAD
rs963068602 1475 L>I No TOPMed
gnomAD
rs1046794283 1477 W>* No TOPMed
gnomAD
rs929759630 1477 W>* No Ensembl
rs929759630 1477 W>C No Ensembl
rs1046794283 1477 W>L No TOPMed
gnomAD
rs1046794283 1477 W>S No TOPMed
gnomAD
TCGA novel 1478 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs745459533 1479 G>D No ExAC
TOPMed
gnomAD
rs745459533 1479 G>V No ExAC
TOPMed
gnomAD
rs1240801198 1480 I>M No TOPMed
gnomAD
rs1182896315 1481 T>N No gnomAD
rs757592384 1482 S>G No ExAC
gnomAD
rs1257469550 1482 S>N No gnomAD
rs749689925 1483 P>R No ExAC
gnomAD
rs922427037 1484 T>I No Ensembl
rs2128626024 1485 P>A No Ensembl
rs2128626020 1485 P>Q No Ensembl
rs2128626024 1485 P>T No Ensembl
rs1040880336 1487 Y>C No TOPMed
gnomAD
rs1286980491 1487 Y>H No gnomAD
COSM1544591
rs1562294207
COSM6172038
COSM1544590
COSM6172037
1489 V>F lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
gnomAD
rs1562294207 1489 V>I No gnomAD
rs753157680 1490 Y>H No ExAC
TOPMed
gnomAD
rs373575161 1491 Y>C No ESP
ExAC
TOPMed
gnomAD
rs2128625969 1492 A>E No Ensembl
rs2128625978 1492 A>T No Ensembl
TCGA novel 1493 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs151172982 1493 E>G No ESP
ExAC
gnomAD
rs142098208 1494 V>A No ESP
ExAC
TOPMed
gnomAD
rs142098208 1494 V>G No ESP
ExAC
TOPMed
gnomAD
rs766758100
COSM72473
1495 N>D ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM1440060
COSM1440061
rs1778174340
1495 N>S large_intestine [Cosmic] No cosmic curated
TOPMed
rs1778173843 1496 D>E No gnomAD
rs1158871186 1496 D>Y No gnomAD
rs1778173601 1497 R>G No TOPMed
rs1278804712 1498 K>* No gnomAD
TCGA novel 1499 N>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1778172885 1500 S>G No gnomAD
rs148612298 1501 S>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1226545186 1502 D>E No gnomAD
rs1421203380 1502 D>G No TOPMed
gnomAD
rs958026755 1505 Y>C No TOPMed
gnomAD
rs143849918 1505 Y>H No ESP
TOPMed
gnomAD
RCV000956407
VAR_041454
rs35841892
1506 R>G No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs1258207555 1506 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1258207555 1506 R>K No gnomAD
rs1258207555 1506 R>T No gnomAD
rs1489503636
COSM4548633
COSM4548632
1509 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs1489503636 1509 E>Q No TOPMed
gnomAD
rs1371845070 1511 Q>R No TOPMed
gnomAD
rs1778029096 1512 D>E No gnomAD
rs1778029433 1512 D>G No gnomAD
rs1778029784 1512 D>N No Ensembl
rs1227267213 1513 S>N No TOPMed
gnomAD
COSM483321
COSM483322
COSM1645905
rs1778028516
1514 I>M kidney [Cosmic] No cosmic curated
gnomAD
rs1778028168 1515 A>P No 1000Genomes
rs1778028168 1515 A>S No 1000Genomes
rs2128624110 1515 A>V No Ensembl
rs770437430 1517 I>T No ExAC
rs866401304 1518 E>* No Ensembl
rs866401304 1518 E>K No Ensembl
rs762524687 1519 D>N No ExAC
gnomAD
TCGA novel 1519 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs139406677 1520 L>F No ESP
TOPMed
gnomAD
rs910993051 1520 L>S No TOPMed
gnomAD
rs2128624067 1521 Q>* No Ensembl
rs112739824 1522 P>L No ESP
ExAC
TOPMed
gnomAD
rs112739824 1522 P>Q No ESP
ExAC
TOPMed
gnomAD
rs772770962 1522 P>T No ExAC
rs1778024048 1523 F>KK* No Ensembl
rs986408985 1524 S>L No TOPMed
gnomAD
rs1345318306 1525 T>A No TOPMed
rs141763354 1525 T>R No ESP
ExAC
TOPMed
gnomAD
rs925004365 1526 Y>C No gnomAD
rs138573193 1526 Y>D No ESP
ExAC
TOPMed
gnomAD
rs138573193 1526 Y>H No ESP
ExAC
TOPMed
gnomAD
rs138573193 1526 Y>N No ESP
ExAC
TOPMed
gnomAD
rs1778022335 1527 M>I No TOPMed
gnomAD
rs369511700 1527 M>L No ESP
ExAC
TOPMed
gnomAD
rs369511700 1527 M>V No ESP
ExAC
TOPMed
gnomAD
TCGA novel 1528 I>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs780225613 1528 I>V No ExAC
gnomAD
rs758560276 1529 Q>* No ExAC
TOPMed
gnomAD
rs2128623984 1529 Q>H No Ensembl
rs750621559 1529 Q>R No ExAC
TOPMed
gnomAD
rs374813403 1530 I>M No ESP
TOPMed
gnomAD
rs1778021494 1530 I>T No gnomAD
rs1017338335 1531 A>G No TOPMed
rs531086338 1531 A>T No 1000Genomes
ExAC
gnomAD
rs1017338335 1531 A>V No TOPMed
rs2128623953 1532 V>I No Ensembl
rs2128623953 1532 V>L No Ensembl
rs755903627 1533 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs776274768
RCV000736226
1534 N>missing No ClinVar
dbSNP
rs776274768 1534 N>I Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs776274768 1534 N>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs979161310 1534 N>S No Ensembl
TCGA novel 1535 Y>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1199837770 1536 Y>F No gnomAD
rs752499456 1537 S>L No ExAC
gnomAD
rs754848627 1538 D>E No ExAC
TOPMed
gnomAD
rs2128623886 1538 D>H No Ensembl
rs373022618 1538 D>V No ESP
ExAC
TOPMed
gnomAD
rs1185119698 1539 P>H No TOPMed
COSM3619839
rs751502071
COSM3619838
1539 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs762390077 1541 E>D No ExAC
gnomAD
rs202169003 1541 E>K No 1000Genomes
ExAC
gnomAD
rs1459609360 1542 H>Y No TOPMed
rs1778015572 1544 P>T No TOPMed
rs772896918 1545 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
COSM4549053
COSM1072550
1546 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128623830 1546 G>V No Ensembl
rs1033731821 1547 K>E No TOPMed
gnomAD
rs542373889 1548 E>Q No 1000Genomes
ExAC
rs776919099 1549 I>T No ExAC
gnomAD
rs150147295 1549 I>V No 1000Genomes
ExAC
gnomAD
rs561775569 1550 W>* No 1000Genomes
ExAC
gnomAD
rs2128623789 1550 W>C No Ensembl
rs561775569 1550 W>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
NCI-TCGA
gnomAD
COSM739500
COSM739501
rs1417876029
COSM1647877
1551 G>E lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs776176321 1551 G>R No ExAC
gnomAD
rs772231643 1552 K>N No ExAC
gnomAD
TCGA novel 1552 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs745987821 1554 K>E No ExAC
gnomAD
rs779188243 1555 N>S No ExAC
TOPMed
gnomAD
rs779188243 1555 N>T No ExAC
TOPMed
gnomAD
rs1362301601 1556 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
COSM1645906
rs150852319
COSM1137420
COSM1137419
1557 V>I kidney [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs2128622807 1559 E>V No Ensembl
rs2128622798 1562 Q>* No Ensembl
rs779963365 1563 L>P No ExAC
TOPMed
gnomAD
rs1562291174 1567 T>I No Ensembl
rs2128622769 1568 V>M No Ensembl
rs141448347 1569 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs141448347
COSM3857799
COSM3857800
1569 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
COSM3920639
COSM3920640
rs199762082
1569 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1284677397 1570 S>L No gnomAD
rs192730088 1570 S>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs192730088 1570 S>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1582673789 1571 D>A No Ensembl
rs1582673754 1572 T>P No Ensembl
rs1562291079
COSM1440058
COSM4786714
COSM1440059
1573 S>N Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs1324451226 1573 S>R No TOPMed
gnomAD
rs761092844 1575 I>T No ExAC
gnomAD
rs763892419 1575 I>V No ExAC
gnomAD
rs767933411 1576 I>T No ExAC
gnomAD
rs200762545 1576 I>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs1404812280 1577 S>C No gnomAD
rs1278454013 1577 S>P No TOPMed
gnomAD
rs770865174 1578 W>* No ExAC
TOPMed
gnomAD
rs759890825 1578 W>* No ExAC
rs770865174 1578 W>C No ExAC
TOPMed
gnomAD
rs1165438791 1578 W>R No TOPMed
gnomAD
rs2128622663 1579 R>* No Ensembl
rs1777928810
COSM3619837
COSM3619836
1579 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs763067644 1580 E>G No ExAC
rs1165495915 1580 E>K No gnomAD
rs763067644 1580 E>V No ExAC
COSM1311504
COSM4811450
1581 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1474721113 1581 S>F No gnomAD
rs1423277535 1582 H>Y No TOPMed
gnomAD
rs773391483 1583 K>N No ExAC
gnomAD
rs2128622627 1584 P>S No Ensembl
rs531832845 1586 G>E No TOPMed
rs2128622622 1586 G>R No Ensembl
rs2128622599 1587 P>A No Ensembl
rs1264849617 1587 P>L No TOPMed
gnomAD
rs2128622599 1587 P>S No Ensembl
COSM1440057
COSM4948447
1589 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1777925811 1591 V>F No Ensembl
rs1777925811 1591 V>I No Ensembl
rs368206665 1592 R>C No ExAC
gnomAD
rs148310006 1592 R>H No ESP
ExAC
gnomAD
rs148310006 1592 R>P No ESP
ExAC
gnomAD
rs368206665 1592 R>S No ExAC
gnomAD
rs1337370599 1593 Y>F No TOPMed
gnomAD
COSM5869181
COSM5869182
rs2128622556
1594 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1018937624 1594 Q>H No Ensembl
rs1777923516 1595 L>* No Ensembl
rs3752564 1595 L>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128622524 1596 A>S No Ensembl
rs2128622524 1596 A>T No Ensembl
rs2128622520 1596 A>V No Ensembl
rs1342190901 1597 I>* No gnomAD
rs1281612889 1597 I>V No TOPMed
gnomAD
rs1436107648 1600 L>P No gnomAD
rs45439298 1601 A>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs1777922068 1601 A>P No TOPMed
rs1777922068 1601 A>T No TOPMed
TCGA novel 1601 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs1408672277 1604 P>S No TOPMed
gnomAD
rs547983474 1605 E>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs1172074849 1606 T>A No gnomAD
TCGA novel
rs2128622474
1606 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
COSM3619834
COSM3619835
1607 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs753442951 1607 P>S No ExAC
gnomAD
rs143210953 1608 L>V No ExAC
gnomAD
rs1291943165 1609 R>* No TOPMed
gnomAD
rs1477497007 1609 R>K No gnomAD
rs1777918988 1611 S>N No Ensembl
TCGA novel 1612 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1777918629 1612 E>K No TOPMed
rs755766404 1614 P>L No ExAC
TOPMed
gnomAD
COSM3619832
COSM3619833
1614 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1456345928 1615 N>D No gnomAD
rs1777916721 1615 N>S No Ensembl
rs751986538 1617 R>S No ExAC
TOPMed
gnomAD
rs1319726072 1618 L>H No gnomAD
rs1319726072 1618 L>P No gnomAD
rs2128622392 1619 T>I No Ensembl
rs146668165 1620 L>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1777913566 1620 L>H No TOPMed
rs1777913249 1621 L>V No Ensembl
rs1777912886 1622 V>I No Ensembl
rs773338439 1623 T>N No ExAC
gnomAD
rs769875440 1625 L>V No ExAC
TOPMed
gnomAD
COSM323108
COSM323109
rs142109327
1626 S>C lung [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs142109327 1626 S>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1010526451 1626 S>P No Ensembl
rs2128622328 1627 G>C No Ensembl
COSM3619831
COSM3619830
1627 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128622328 1627 G>S No Ensembl
rs2128622317 1627 G>V No Ensembl
rs2128622310 1628 G>V No Ensembl
rs1264334742 1631 Y>C No TOPMed
gnomAD
rs776944811 1631 Y>H No ExAC
TOPMed
gnomAD
rs1777908292 1632 V>A No gnomAD
rs1777908539 1632 V>M No Ensembl
rs2128622134 1635 V>D No Ensembl
rs765279582 1635 V>F No TOPMed
gnomAD
rs765279582 1635 V>I No TOPMed
gnomAD
rs370393953 1636 L>F No ESP
ExAC
TOPMed
gnomAD
rs370393953 1636 L>I No ESP
ExAC
TOPMed
gnomAD
rs367999236 1637 A>D No TOPMed
gnomAD
rs367999236 1637 A>G No TOPMed
gnomAD
rs1361333016 1637 A>P No gnomAD
rs367999236 1637 A>V No TOPMed
gnomAD
rs1417503410 1638 C>* No gnomAD
rs147104879 1638 C>F No ESP
ExAC
TOPMed
gnomAD
rs147104879 1638 C>S No ESP
ExAC
TOPMed
gnomAD
rs2128622111 1638 C>S No Ensembl
rs147104879 1638 C>Y No ESP
ExAC
TOPMed
gnomAD
rs1379084378 1639 H>L No gnomAD
rs768081803 1639 H>Q No TOPMed
gnomAD
rs1379084378 1639 H>R No gnomAD
COSM1316562
COSM1316561
rs2128622094
1639 H>Y haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
Ensembl
rs937896470 1640 S>A No TOPMed
rs1441413725 1640 S>C No TOPMed
gnomAD
rs1441413725 1640 S>F No TOPMed
gnomAD
rs2128622058 1641 E>D No Ensembl
rs2128622064 1641 E>K No Ensembl
rs2128622064 1641 E>Q No Ensembl
rs2128622046 1642 E>* No Ensembl
rs758846560 1642 E>D No ExAC
TOPMed
gnomAD
COSM1697823
COSM1697824
rs2128622046
1642 E>K NS Variant assessed as Somatic; MODERATE impact. skin [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs2128622046 1642 E>Q No Ensembl
rs1260462127 1643 M>I No TOPMed
rs1181248171 1643 M>V No TOPMed
gnomAD
rs750934790 1644 W>C No ExAC
TOPMed
gnomAD
TCGA novel
rs1777893903
1644 W>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs2128622023 1644 W>L No Ensembl
rs1777893903 1644 W>R No TOPMed
gnomAD
rs2128621999 1645 C>* No Ensembl
rs765262539 1645 C>F No ExAC
gnomAD
rs1777893244 1645 C>R No TOPMed
gnomAD
rs2128621999 1645 C>W No Ensembl
rs765262539 1645 C>Y No ExAC
gnomAD
rs761904834 1646 T>A No ExAC
TOPMed
gnomAD
rs1046359018 1646 T>I No TOPMed
gnomAD
rs761904834 1646 T>S No ExAC
TOPMed
gnomAD
rs2128621977 1647 E>D No Ensembl
rs2128621986 1647 E>Q No Ensembl
rs2128621983 1647 E>V No Ensembl
rs764420063 1648 S>C No ExAC
TOPMed
gnomAD
rs764420063 1648 S>G No ExAC
TOPMed
gnomAD
rs1421889146 1648 S>N No TOPMed
gnomAD
rs2128621959 1648 S>R No Ensembl
rs1242429496 1649 H>N No gnomAD
rs2128621953 1649 H>R No Ensembl
rs1242429496 1649 H>Y No gnomAD
rs1320046867 1650 P>A No TOPMed
gnomAD
rs201532881 1650 P>L No 1000Genomes
TOPMed
gnomAD
rs201532881 1650 P>R No 1000Genomes
TOPMed
gnomAD
rs1320046867 1650 P>S No TOPMed
gnomAD
rs1320046867 1650 P>T No TOPMed
gnomAD
rs2128621922 1651 V>D No Ensembl
rs1777890523 1651 V>F No TOPMed
rs1777890523 1651 V>I No TOPMed
rs1777890523 1651 V>L No TOPMed
TCGA novel 1652 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128621899 1652 T>I No Ensembl
rs1562290184 1652 T>P No Ensembl
rs1562290184 1652 T>S No Ensembl
rs2128621899 1652 T>S No Ensembl
rs1472359289 1653 V>A No TOPMed
gnomAD
rs1472359289 1653 V>E No TOPMed
gnomAD
rs1472359289 1653 V>G No TOPMed
gnomAD
rs2128621887 1653 V>L No Ensembl
rs2128621887 1653 V>M No Ensembl
rs2128621858 1654 E>* No Ensembl
rs2128621858 1654 E>K No Ensembl
rs2128621858 1654 E>Q No Ensembl
rs2128621849 1655 M>I No Ensembl
rs2128621853 1655 M>K No Ensembl
rs2128621856 1655 M>V No Ensembl
rs2128621843 1656 F>I No Ensembl
rs2128621831 1656 F>L No Ensembl
rs2128621836 1656 F>S No Ensembl
rs2128621836 1656 F>Y No Ensembl
rs2128621825 1657 N>I No Ensembl
rs2128621815 1657 N>K No Ensembl
rs2128621799 1658 T>I No Ensembl
rs2128621799 1658 T>R No Ensembl
rs2128621808 1658 T>S No Ensembl
rs184429367 1659 P>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs1359523756 1659 P>L No gnomAD
rs1359523756 1659 P>R No gnomAD
rs184429367 1659 P>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs184429367
RCV000963035
1659 P>T No ClinVar
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs2128621770 1660 E>* No Ensembl
rs2128621755 1660 E>D No Ensembl
rs2128621765 1660 E>G No Ensembl
rs2128621770 1660 E>K No Ensembl
rs2128621770 1660 E>Q No Ensembl
rs1468695285 1661 K>N No gnomAD
COSM3828891
COSM3828892
1661 K>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1777888433 1661 K>R No TOPMed
rs1777888433 1661 K>T No TOPMed
rs141772440 1662 P>A No ESP
ExAC
gnomAD
rs769404232 1662 P>H No ExAC
gnomAD
rs769404232 1662 P>L No ExAC
gnomAD
rs769404232 1662 P>R No ExAC
gnomAD
rs141772440 1662 P>S No ESP
ExAC
gnomAD
rs754717204 1663 Y>* No ExAC
gnomAD
rs2128621714 1663 Y>N No Ensembl
rs1777886627 1664 S>C No TOPMed
rs1777886627 1664 S>F No TOPMed
rs1777886627 1664 S>Y No TOPMed
rs2128621682 1665 L>* No Ensembl
rs780398903 1665 L>F No ExAC
TOPMed
gnomAD
rs2128621686 1665 L>M No Ensembl
rs2128621661 1666 V>D No Ensembl
rs758795675 1666 V>F No ExAC
gnomAD
COSM35766
rs758795675
COSM1559726
1666 V>I central_nervous_system [Cosmic] No cosmic curated
ExAC
gnomAD
rs758795675 1666 V>L No ExAC
gnomAD
rs1777885821 1667 P>A No Ensembl
rs866472077
COSM3857795
COSM3857796
1667 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs866472077 1667 P>R No Ensembl
rs1777885821 1667 P>T No Ensembl
rs2128621626 1668 E>* No Ensembl
rs145788522 1668 E>D No ESP
ExAC
TOPMed
gnomAD
rs2128621626 1668 E>K No Ensembl
rs2128621626 1668 E>Q No Ensembl
rs2128621616 1669 N>D No Ensembl
rs2128621612 1669 N>I No Ensembl
rs2128621616 1669 N>Y No Ensembl
rs1360437041 1670 T>A No TOPMed
rs1360437041 1670 T>S No TOPMed
rs2128621604 1670 T>S No Ensembl
rs1191272034 1671 S>C No gnomAD
rs149694844 1671 S>N No ESP
rs2128621584 1671 S>R No Ensembl
rs149694844 1671 S>T No ESP
rs1280459437 1672 L>F No TOPMed
gnomAD
rs2128621570 1673 Q>* No Ensembl
rs2128621570 1673 Q>E No Ensembl
rs2128621557 1673 Q>H No Ensembl
rs2128621565 1673 Q>R No Ensembl
rs2128621552 1674 F>I No Ensembl
rs1264140574 1674 F>L No gnomAD
rs2128621547 1674 F>Y No Ensembl
rs2128621528 1675 N>I No Ensembl
rs757298192 1675 N>K No ExAC
rs2128621528 1675 N>S No Ensembl
rs1777883679 1675 N>Y No TOPMed
rs2128621515 1676 W>* No Ensembl
rs1777883048 1676 W>* No Ensembl
rs2128621515 1676 W>C No Ensembl
rs1777883048 1676 W>L No Ensembl
rs754020828 1676 W>R No ExAC
gnomAD
rs2128621507 1677 K>M No Ensembl
rs2128621502 1677 K>N No Ensembl
rs2128621507 1677 K>R No Ensembl
rs1283157285 1678 A>D No gnomAD
rs1283157285 1678 A>G No gnomAD
rs2128621492 1678 A>P No Ensembl
rs2128621492 1678 A>S No Ensembl
rs2128621492 1678 A>T No Ensembl
rs1283157285 1678 A>V No gnomAD
rs764212412 1679 P>A No ExAC
TOPMed
gnomAD
rs764212412 1679 P>S No ExAC
TOPMed
gnomAD
rs764212412 1679 P>T No ExAC
TOPMed
gnomAD
rs2128621454 1680 L>* No Ensembl
rs2128621447 1680 L>F No Ensembl
rs1725767255 1680 L>M No gnomAD
rs2128621454 1680 L>S No Ensembl
rs2128621442 1681 N>D No Ensembl
rs760880286 1681 N>I No ExAC
gnomAD
rs762297422 1681 N>K No Ensembl
rs2128621428 1682 V>D No Ensembl
COSM739502
COSM1647878
rs2128621434
COSM739503
1682 V>F lung [Cosmic] No cosmic curated
Ensembl
rs2128621434 1682 V>I No Ensembl
rs2128621434 1682 V>L No Ensembl
rs1777881454 1683 N>D No TOPMed
rs1281997419 1683 N>I No TOPMed
gnomAD
rs2128621415 1683 N>K No Ensembl
rs1281997419 1683 N>S No TOPMed
gnomAD
rs2128621411 1684 L>F No Ensembl
rs2128621402 1684 L>H No Ensembl
rs2128621411 1684 L>I No Ensembl
rs2128621402 1684 L>P No Ensembl
rs775601610 1685 I>L No ExAC
TOPMed
gnomAD
rs2128621382 1685 I>M No Ensembl
rs575473741 1685 I>N No Ensembl
rs575473741 1685 I>T No Ensembl
rs2128621374 1686 R>K No Ensembl
rs2128621374 1686 R>T No Ensembl
rs2128621362 1687 F>L No Ensembl
rs2128621366 1687 F>Y No Ensembl
TCGA novel 1688 W>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs2128621358 1688 W>G No Ensembl
rs766225570 1689 V>A No ExAC
TOPMed
gnomAD
rs766225570 1689 V>D No ExAC
TOPMed
gnomAD
rs2128621355 1689 V>I No Ensembl
rs1278432974 1690 E>K No TOPMed
gnomAD
rs1278432974 1690 E>Q No TOPMed
gnomAD
rs2128621342 1690 E>V No Ensembl
rs1777879636 1691 L>I No Ensembl
rs2128621331 1691 L>Q No Ensembl
rs1777879636 1691 L>V No Ensembl
rs2128621325 1692 Q>* No Ensembl
rs2128621325 1692 Q>E No Ensembl
TCGA novel
rs2128621318
1692 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs140772370 1692 Q>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140772370 1692 Q>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128621311 1693 K>E No Ensembl
rs2128621305 1693 K>N No Ensembl
rs2128621309 1693 K>R No Ensembl
rs2128617409
COSM1487171
COSM1487172
1694 W>* breast [Cosmic] No cosmic curated
Ensembl
rs2128617400
COSM4813176
COSM1487172
COSM4813177
COSM1487171
1694 W>* Variant assessed as Somatic; HIGH impact. breast [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
Ensembl
rs2128617400 1694 W>C No Ensembl
rs112475836 1694 W>R No Ensembl
rs2128617409 1694 W>S No Ensembl
rs2128617393 1695 K>N No Ensembl
rs762836563 1696 Y>* No ExAC
gnomAD
rs1777560244 1696 Y>D No TOPMed
gnomAD
rs2128617385 1696 Y>F No Ensembl
rs1777560244 1696 Y>N No TOPMed
gnomAD
rs750301229 1697 N>D No ExAC
gnomAD
rs2128617372 1697 N>I No Ensembl
rs765137339 1697 N>K No ExAC
TOPMed
gnomAD
rs750301229 1697 N>Y No ExAC
gnomAD
rs2128617359 1698 E>* No Ensembl
rs2128617359 1698 E>K No Ensembl
rs2128617359 1698 E>Q No Ensembl
rs2128617355 1698 E>V No Ensembl
rs2128617346 1699 F>I No Ensembl
rs2128617346 1699 F>V No Ensembl
rs2128617339 1699 F>Y No Ensembl
rs2128617330 1700 Y>* No Ensembl
rs1400675993 1701 H>D No TOPMed
gnomAD
rs1400675993 1701 H>N No TOPMed
gnomAD
rs2128617320 1701 H>Q No Ensembl
rs1172596225 1701 H>R No gnomAD
rs1400675993 1701 H>Y No TOPMed
gnomAD
rs776465526 1702 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs776465526 1702 V>D No ExAC
TOPMed
gnomAD
rs776465526 1702 V>G No ExAC
TOPMed
gnomAD
rs2128617316 1702 V>I No Ensembl
rs2128617316 1702 V>L No Ensembl
rs1777556873 1703 K>E No gnomAD
rs2128617301 1703 K>I No Ensembl
rs2128617294 1703 K>N No Ensembl
rs2128617291 1704 T>S No Ensembl
rs2128617279 1705 S>* No Ensembl
COSM4852720
COSM1720290
rs2128617279
COSM1720291
1705 S>L NS Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs771782242 1706 C>* No ExAC
gnomAD
TCGA novel 1706 C>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs143981354 1706 C>R No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143981354 1706 C>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128617264 1706 C>S No Ensembl
rs771782242 1706 C>W No ExAC
gnomAD
rs2128617264 1706 C>Y No Ensembl
rs1777555169 1707 S>C No TOPMed
rs2128617250 1707 S>I No Ensembl
COSM3157723
COSM3157724
rs2128617250
COSM3619829
1707 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1777554857 1707 S>R No gnomAD
rs2128617250 1707 S>T No Ensembl
rs546018658 1708 Q>* No 1000Genomes
ExAC
gnomAD
rs546018658 1708 Q>E No 1000Genomes
ExAC
gnomAD
rs2128617236 1708 Q>H No Ensembl
rs577629463 1708 Q>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs1240366975 1709 G>C No TOPMed
gnomAD
rs1777553859 1709 G>V No TOPMed
rs771226930 1710 P>A No ExAC
TOPMed
gnomAD
rs2128617202 1710 P>L No Ensembl
rs2128617202 1710 P>R No Ensembl
rs771226930 1710 P>S No ExAC
TOPMed
gnomAD
rs2128617178 1711 A>G No Ensembl
rs1344810205 1711 A>P No TOPMed
gnomAD
rs1344810205 1711 A>S No TOPMed
gnomAD
rs2128617178 1711 A>V No Ensembl
rs2128617161 1712 Y>* No Ensembl
rs2128617166 1712 Y>N No Ensembl
rs2128617154 1713 V>D No Ensembl
rs1233603510 1713 V>F No gnomAD
rs1233603510 1713 V>I No gnomAD
rs1233603510 1713 V>L No gnomAD
rs2128617136 1714 C>* No Ensembl
rs1330583699 1714 C>F No TOPMed
gnomAD
rs2128617146 1714 C>R No Ensembl
rs2128617146 1714 C>S No Ensembl
rs1330583699 1714 C>S No TOPMed
gnomAD
rs1330583699 1714 C>Y No TOPMed
gnomAD
rs2128617130 1715 N>D No Ensembl
rs2128617124 1715 N>I No Ensembl
rs2128617130 1715 N>Y No Ensembl
rs2128617110 1716 I>M No Ensembl
rs778189228 1716 I>N No ExAC
TOPMed
gnomAD
rs778189228 1716 I>T No ExAC
TOPMed
gnomAD
rs749750510 1716 I>V No ExAC
gnomAD
TCGA novel
rs2128617105
1717 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs756185420 1717 T>I No ExAC
TOPMed
gnomAD
rs756185420 1717 T>K No ExAC
TOPMed
gnomAD
rs756185420 1717 T>R No ExAC
TOPMed
gnomAD
rs2128617105 1717 T>S No Ensembl
rs1777551250 1718 N>D No TOPMed
rs1777551079 1718 N>I No Ensembl
rs2128617078 1718 N>K No Ensembl
rs1777551079 1718 N>S No Ensembl
rs1777551079 1718 N>T No Ensembl
rs1777551250 1718 N>Y No TOPMed
rs369993254 1719 L>I No ESP
ExAC
TOPMed
gnomAD
rs2128617071 1719 L>Q No Ensembl
rs369993254 1719 L>V No ESP
ExAC
TOPMed
gnomAD
rs2128617062 1720 Q>E No Ensembl
rs2128617050 1720 Q>H No Ensembl
rs1562285267 1720 Q>L No Ensembl
rs1777550222 1721 P>A No TOPMed
rs2128617045 1721 P>L No Ensembl
rs2128617045 1721 P>R No Ensembl
rs1777550222 1721 P>S No TOPMed
rs1777550222 1721 P>T No TOPMed
rs2128617030 1722 Y>* No Ensembl
rs2128617035 1722 Y>H No Ensembl
rs1394041847 1723 T>A No gnomAD
rs1777549804 1723 T>I No TOPMed
rs1777549804 1723 T>N No TOPMed
rs1394041847 1723 T>P No gnomAD
rs1777549804
COSM1739241
COSM1739240
1723 T>S haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
TOPMed
COSM1739241
rs1394041847
COSM1739240
1723 T>S haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
gnomAD
rs2128616998 1724 S>* No Ensembl
rs888269782 1724 S>A No TOPMed
gnomAD
rs2128616998 1724 S>L No Ensembl
rs888269782 1724 S>P No TOPMed
gnomAD
rs888269782 1724 S>T No TOPMed
gnomAD
rs2128616983 1725 Y>* No Ensembl
rs1777548452 1725 Y>C No TOPMed
rs1777548452 1725 Y>F No TOPMed
rs2128616989 1725 Y>N No Ensembl
rs2128616978 1726 N>D No Ensembl
rs2128616973 1726 N>I No Ensembl
rs2128616952 1727 V>A No Ensembl
rs2128616952 1727 V>D No Ensembl
rs2128616960 1727 V>F No Ensembl
rs2128616960 1727 V>L No Ensembl
rs2128616938 1728 R>* No Ensembl
rs2128616938 1728 R>G No Ensembl
rs1436828538 1728 R>K No gnomAD
rs2128616927 1728 R>S No Ensembl
rs1436828538 1728 R>T No gnomAD
rs2128616919 1729 V>I No Ensembl
COSM172878
TCGA novel
rs2128616919
COSM172879
1729 V>L Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA
Ensembl
rs2128616909 1730 V>E No Ensembl
rs1777547550 1730 V>L No TOPMed
rs1777547550 1730 V>M No TOPMed
rs2128616898 1731 V>L No Ensembl
rs2128616898 1731 V>M No Ensembl
rs1777546932 1732 V>F No Ensembl
rs1777546932 1732 V>I No Ensembl
rs1777546932 1732 V>L No Ensembl
rs2128616873 1733 Y>* No Ensembl
rs765042516 1733 Y>C No ExAC
TOPMed
gnomAD
rs761535895 1734 K>* No ExAC
gnomAD
rs2128616861 1734 K>M No Ensembl
rs2128616857 1734 K>N No Ensembl
rs2128616861 1734 K>R No Ensembl
rs375957426 1735 T>K No ESP
ExAC
TOPMed
gnomAD
rs375957426 1735 T>M No ESP
ExAC
TOPMed
gnomAD
rs2128616850 1735 T>P No Ensembl
rs375957426 1735 T>R No ESP
ExAC
TOPMed
gnomAD
rs2128616850 1735 T>S No Ensembl
rs2128616835 1736 G>* No Ensembl
rs2128616826 1736 G>A No Ensembl
rs2128616826 1736 G>E No Ensembl
rs2128616835 1736 G>R No Ensembl
rs2128616826 1736 G>V No Ensembl
COSM1440054
COSM3157719
COSM1440055
COSM3857794
rs372371100
1737 E>* Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
ESP
ExAC
TOPMed
gnomAD
rs372371100 1737 E>K No ESP
ExAC
TOPMed
gnomAD
rs372371100 1737 E>Q No ESP
ExAC
TOPMed
gnomAD
rs1777544837 1738 N>K No TOPMed
gnomAD
rs2128616817 1738 N>Y No Ensembl
rs143435239 1739 S>G No ESP
ExAC
TOPMed
gnomAD
rs1200612813 1739 S>I No TOPMed
gnomAD
rs1200612813 1739 S>N No TOPMed
gnomAD
rs143435239 1739 S>R No ESP
ExAC
TOPMed
gnomAD
rs2128616790 1739 S>R No Ensembl
rs1200612813 1739 S>T No TOPMed
gnomAD
TCGA novel 1740 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128616776 1740 T>I No Ensembl
rs2128616776 1740 T>N No Ensembl
rs2128616783 1740 T>P No Ensembl
rs2128616783 1740 T>S No Ensembl
rs2128616776 1740 T>S No Ensembl
rs1238762897 1741 S>* No gnomAD
rs1238762897 1741 S>L No gnomAD
rs774010287 1741 S>T No ExAC
gnomAD
rs1353853010 1742 L>F No gnomAD
rs1353853010 1742 L>V No gnomAD
rs771301135 1743 P>A No ExAC
TOPMed
gnomAD
rs1242593536 1743 P>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
COSM387704
COSM387703
rs771301135
1743 P>S lung [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs771301135 1743 P>T No ExAC
TOPMed
gnomAD
rs2128616724 1744 E>* No Ensembl
TCGA novel
rs2128616713
1744 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2128616719 1744 E>G No Ensembl
rs2128616724 1744 E>K No Ensembl
rs2128616724 1744 E>Q No Ensembl
rs2128616719 1744 E>V No Ensembl
rs749651979 1745 S>R No ExAC
gnomAD
rs773762930 1746 F>I No ExAC
gnomAD
rs2128616688 1746 F>L No Ensembl
rs2128616694 1746 F>S No Ensembl
rs773762930 1746 F>V No ExAC
gnomAD
rs2128616694 1746 F>Y No Ensembl
rs2128616683 1747 K>M No Ensembl
rs2128616675 1748 T>A No Ensembl
rs1213350416 1748 T>I No TOPMed
gnomAD
rs1213350416 1748 T>K No TOPMed
gnomAD
rs1213350416 1748 T>R No TOPMed
gnomAD
rs2128616675 1748 T>S No Ensembl
rs537810933 1749 K>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs2128616653 1749 K>Q No Ensembl
rs537810933 1749 K>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs537810933 1749 K>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs768835741 1750 A>D No ExAC
TOPMed
gnomAD
rs768835741 1750 A>G No ExAC
TOPMed
gnomAD
rs1035565334 1750 A>P No TOPMed
gnomAD
rs1035565334 1750 A>S No TOPMed
gnomAD
rs1035565334 1750 A>T No TOPMed
gnomAD
rs768835741 1750 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2128593641 1751 G>* No Ensembl
rs2128593633 1751 G>A No Ensembl
rs2128593633 1751 G>E No Ensembl
rs2128593641 1751 G>R No Ensembl
rs2128593633 1751 G>V No Ensembl
rs2128593626 1752 V>F No Ensembl
rs762214304 1752 V>G No ExAC
TOPMed
gnomAD
rs2128593626 1752 V>I No Ensembl
rs2128593626 1752 V>L No Ensembl
rs2128593609 1753 P>A No Ensembl
rs575187153 1753 P>L No 1000Genomes
ExAC
gnomAD
rs575187153 1753 P>Q No 1000Genomes
ExAC
gnomAD
rs575187153 1753 P>R No 1000Genomes
ExAC
gnomAD
rs2128593609 1753 P>S No Ensembl
rs2128593609 1753 P>T No Ensembl
rs376099341 1754 N>K No ESP
ExAC
TOPMed
gnomAD
rs2128593598 1754 N>S No Ensembl
rs1015244536 1754 N>Y No Ensembl
rs971150436 1755 K>* No TOPMed
rs971150436 1755 K>E No TOPMed
rs2128593587 1755 K>N No Ensembl
rs1270018924 1756 P>L No gnomAD
rs1270018924 1756 P>Q No gnomAD
rs1270018924 1756 P>R No gnomAD
rs2128593582 1756 P>T No Ensembl
rs2128593566 1757 G>A No Ensembl
rs1007896648 1757 G>C No TOPMed
gnomAD
rs2128593566 1757 G>D No Ensembl
rs1007896648 1757 G>R No TOPMed
gnomAD
rs1007896648 1757 G>S No TOPMed
gnomAD
rs2128593566 1757 G>V No Ensembl
rs1254307589 1758 I>F No Ensembl
rs1254307589 1758 I>L No Ensembl
rs2128593553 1758 I>N No Ensembl
rs2128593553 1758 I>T No Ensembl
rs1254307589 1758 I>V No Ensembl
rs2128593537 1759 P>A No Ensembl
rs2128593532 1759 P>H No Ensembl
rs2128593532 1759 P>L No Ensembl
rs2128593532 1759 P>R No Ensembl
rs2128593537 1759 P>S No Ensembl
rs2128593537 1759 P>T No Ensembl
rs2128593518 1760 K>N No Ensembl
rs2128593523 1760 K>R No Ensembl
rs777368850 1761 L>* No ExAC
gnomAD
rs777368850 1761 L>S No ExAC
gnomAD
rs1776891255 1761 L>V No Ensembl
rs2128593503 1762 L>Q No Ensembl
rs2128593506 1762 L>V No Ensembl
rs755939085 1763 E>A No ExAC
rs2128593484 1763 E>D No Ensembl
rs755939085 1763 E>V No ExAC
rs1776890399 1764 G>A No gnomAD
rs1776890399 1764 G>E No gnomAD
rs2128593479 1764 G>R No Ensembl
rs1776890399 1764 G>V No gnomAD
rs767479948 1765 S>C No ExAC
TOPMed
gnomAD
rs2128593457 1765 S>I No Ensembl
rs2128593457 1765 S>N No Ensembl
rs1268010906 1765 S>R No TOPMed
gnomAD
rs2128593457 1765 S>T No Ensembl
rs1776888919 1766 K>E No Ensembl
rs2128593446 1766 K>I No Ensembl
rs2128593444 1766 K>N No Ensembl
rs2128593440 1767 N>D No Ensembl
TCGA novel 1767 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128593429 1767 N>I No Ensembl
rs1776888739 1767 N>K No Ensembl
rs2128593429 1767 N>S No Ensembl
rs2128593407 1768 S>* No Ensembl
rs2128593413 1768 S>A No Ensembl
COSM3619828
COSM229018
COSM3619827
COSM229017
rs2128593407
1768 S>L Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs2128593413 1768 S>T No Ensembl
rs1049529195 1769 I>K No Ensembl
rs2128593384 1769 I>M No Ensembl
rs1049529195 1769 I>R No Ensembl
rs1049529195 1769 I>T No Ensembl
rs1776888367 1769 I>V No Ensembl
rs2128593376 1770 Q>* No Ensembl
rs2128593376 1770 Q>E No Ensembl
rs2128593370 1770 Q>H No Ensembl
COSM228085
COSM228086
rs199563442
1771 W>* skin [Cosmic] No cosmic curated
gnomAD
COSM228085
COSM228086
rs1776887767
1771 W>* skin [Cosmic] No cosmic curated
TOPMed
gnomAD
rs1776887767 1771 W>C No TOPMed
gnomAD
rs2128593363 1771 W>G No Ensembl
rs199563442 1771 W>L No gnomAD
rs2128593363 1771 W>R No Ensembl
rs199563442 1771 W>S No gnomAD
rs1192695384 1772 E>* No TOPMed
gnomAD
TCGA novel
rs2128593329
1772 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1192695384 1772 E>K No TOPMed
gnomAD
rs1192695384 1772 E>Q No TOPMed
gnomAD
rs2128593324 1773 K>* No Ensembl
rs2128593320 1773 K>I No Ensembl
rs2128593317 1773 K>N No Ensembl
rs2128593302 1774 A>D No Ensembl
rs2128593302 1774 A>G No Ensembl
rs1776887404 1774 A>P No Ensembl
rs1776887404 1774 A>S No Ensembl
rs1776887404 1774 A>T No Ensembl
rs2128593302 1774 A>V No Ensembl
rs2128593292 1775 E>* No Ensembl
rs1435810299 1775 E>D No TOPMed
gnomAD
rs2128593286 1775 E>G No Ensembl
rs2128593292 1775 E>K No Ensembl
rs2128593292 1775 E>Q No Ensembl
rs2128593286 1775 E>V No Ensembl
rs1776886464 1776 D>E No TOPMed
rs2128593269 1776 D>G No Ensembl
rs12664076
COSM150171
VAR_030652
RCV000953544
COSM150172
1776 D>H stomach [Cosmic] No cosmic curated
ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs12664076 1776 D>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128593269 1776 D>V No Ensembl
rs1776886282 1777 N>D No TOPMed
rs891668128 1777 N>I No TOPMed
gnomAD
rs891668128 1777 N>S No TOPMed
gnomAD
rs1776886282 1777 N>Y No TOPMed
COSM3857793
COSM3857791
rs2128593243
COSM3857792
1778 G>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2128593238 1778 G>A No Ensembl
rs2128593238 1778 G>E No Ensembl
rs2128593243 1778 G>R No Ensembl
rs2128593238 1778 G>V No Ensembl
rs2128593207 1779 C>* No Ensembl
rs1171864743 1779 C>F No TOPMed
gnomAD
rs762445305 1779 C>G No ExAC
TOPMed
gnomAD
rs762445305 1779 C>R No ExAC
TOPMed
gnomAD
rs762445305 1779 C>S No ExAC
TOPMed
gnomAD
rs1171864743 1779 C>S No TOPMed
gnomAD
rs2128593207 1779 C>W No Ensembl
rs1171864743 1779 C>Y No TOPMed
gnomAD
rs2128593202 1780 R>* No Ensembl
rs2128593202 1780 R>G No Ensembl
rs1410132066 1780 R>I No gnomAD
rs1410132066 1780 R>K No gnomAD
rs2128593190 1780 R>S No Ensembl
rs1410132066 1780 R>T No gnomAD
rs2128593181 1781 I>N No Ensembl
rs2128593181 1781 I>S No Ensembl
rs2128593185 1781 I>V No Ensembl
rs149390376 1782 T>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128593168 1782 T>I No Ensembl
rs149390376 1782 T>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128593168 1782 T>R No Ensembl
rs1295617724 1783 Y>* No TOPMed
rs1253149587 1783 Y>C No TOPMed
gnomAD
rs762317256 1783 Y>D No ExAC
TOPMed
gnomAD
rs1253149587 1783 Y>F No TOPMed
gnomAD
rs762317256 1783 Y>H No ExAC
TOPMed
gnomAD
rs762317256 1783 Y>N No ExAC
TOPMed
gnomAD
rs1195358594 1784 Y>* No TOPMed
gnomAD
rs2128593134 1784 Y>F No Ensembl
rs2128593139 1784 Y>H No Ensembl
rs2128593139 1784 Y>N No Ensembl
rs2128593127 1785 I>F No Ensembl
rs2128593115 1785 I>M No Ensembl
rs2128593122 1785 I>N No Ensembl
rs2128593127 1785 I>V No Ensembl
rs2128593107 1786 L>F No Ensembl
rs2128593101 1786 L>H No Ensembl
rs2128593107 1786 L>I No Ensembl
rs2128593101 1786 L>P No Ensembl
rs2128593107 1786 L>V No Ensembl
rs945272881 1787 E>* No Ensembl
rs777247123 1787 E>D No ExAC
gnomAD
rs2128593070 1787 E>G No Ensembl
rs945272881 1787 E>K No Ensembl
rs945272881 1787 E>Q No Ensembl
rs2128593070 1787 E>V No Ensembl
rs769355146 1788 I>L No ExAC
TOPMed
gnomAD
rs760826500 1788 I>T No ExAC
gnomAD
rs769355146 1788 I>V No ExAC
TOPMed
gnomAD
rs2128593045 1789 R>* No Ensembl
rs2128593036 1789 R>I No Ensembl
rs2128593036 1789 R>K No Ensembl
rs2128582393 1789 R>S No Ensembl
rs2128593036 1789 R>T No Ensembl
rs768131640 1790 K>* No ExAC
gnomAD
rs2128582378 1790 K>M No Ensembl
rs2128582375 1790 K>N No Ensembl
rs768131640 1790 K>Q No ExAC
gnomAD
rs2128582371 1791 S>C No Ensembl
rs759533205 1791 S>I No ExAC
gnomAD
rs759533205 1791 S>N No ExAC
gnomAD
rs2128582360 1791 S>R No Ensembl
rs759533205 1791 S>T No ExAC
gnomAD
rs2128582354 1792 T>A No Ensembl
rs2128582354 1792 T>S No Ensembl
rs2128582340 1793 S>* No Ensembl
rs2128582340 1793 S>L No Ensembl
rs2128582348 1793 S>T No Ensembl
rs1461762268 1794 N>D No TOPMed
gnomAD
rs2128582324 1794 N>K No Ensembl
rs774351357 1794 N>T No ExAC
gnomAD
rs1461762268 1794 N>Y No TOPMed
gnomAD
rs1191704312 1795 N>H No gnomAD
rs2128582311 1795 N>K No Ensembl
rs1191704312 1795 N>Y No gnomAD
rs2128582300 1796 L>* No Ensembl
rs766461873 1796 L>I No ExAC
TOPMed
gnomAD
rs766461873 1796 L>V No ExAC
TOPMed
gnomAD
COSM1663951
COSM1663953
rs2128582297
COSM1663952
1797 Q>* kidney [Cosmic] No cosmic curated
Ensembl
rs2128582297 1797 Q>E No Ensembl
COSM4869092
COSM1072539
COSM1072541
rs2128582294
1797 Q>H endometrium Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
Ensembl
NCI-TCGA Cosmic
rs2128582285 1798 N>I No Ensembl
rs2128582283 1798 N>K No Ensembl
rs2128582285 1798 N>S No Ensembl
rs2128582291 1798 N>Y No Ensembl
rs2128582278 1799 Q>* No Ensembl
rs2128582278 1799 Q>E No Ensembl
rs2128582274 1799 Q>H No Ensembl
rs2128582278 1799 Q>K No Ensembl
rs763113386 1800 N>D No ExAC
gnomAD
rs2128582267 1800 N>I No Ensembl
COSM3857790
COSM3857789
1800 N>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128582255 1801 L>* No Ensembl
rs2128582260 1801 L>I No Ensembl
rs2128582249 1802 R>G No Ensembl
rs2128582242 1802 R>S No Ensembl
rs1385575949 1802 R>T No TOPMed
gnomAD
rs2128582249 1802 R>W No Ensembl
rs2128582229 1803 W>* No Ensembl
rs2128582219 1803 W>* No Ensembl
rs2128582219 1803 W>C No Ensembl
rs2128582229 1803 W>L No Ensembl
rs2128582238 1803 W>R No Ensembl
rs2128582229 1803 W>S No Ensembl
rs2128582212 1804 K>M No Ensembl
COSM4863626
COSM1072538
rs2128582209
COSM1072536
1804 K>N Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No cosmic curated
Ensembl
NCI-TCGA Cosmic
rs2128582192 1805 M>I No Ensembl
rs2128582200 1805 M>K No Ensembl
rs2128582208 1805 M>L No Ensembl
rs2128582200 1805 M>T No Ensembl
rs538540508 1806 T>A No 1000Genomes
ExAC
TOPMed
gnomAD
rs768305668 1806 T>I No ExAC
gnomAD
rs768305668 1806 T>R No ExAC
gnomAD
rs538540508 1806 T>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs376765085 1807 F>I No ESP
ExAC
gnomAD
rs376765085 1807 F>L No ESP
ExAC
gnomAD
rs2128582171 1807 F>L No Ensembl
rs2128582176 1807 F>Y No Ensembl
rs2128582169 1808 N>I No Ensembl
rs1337334412 1808 N>K No gnomAD
rs2128582169 1808 N>S No Ensembl
rs2128582160 1809 G>* No Ensembl
rs1776645074 1809 G>A No TOPMed
rs1776645074 1809 G>E No TOPMed
rs2128582160 1809 G>R No Ensembl
rs1776645074 1809 G>V No TOPMed
rs1256569613 1810 S>C No TOPMed
gnomAD
COSM139667
COSM3619826
rs1256569613
1810 S>F Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
gnomAD
rs1776644896 1810 S>P No TOPMed
rs1776644896 1810 S>T No TOPMed
rs1256569613 1810 S>Y No TOPMed
gnomAD
rs775276256 1811 C>* No ExAC
gnomAD
rs1776644440 1811 C>F No TOPMed
rs1776644609 1811 C>R No gnomAD
rs1776644440 1811 C>S No TOPMed
rs1776644609 1811 C>S No gnomAD
rs775276256 1811 C>W No ExAC
gnomAD
rs981579627 1812 S>C No TOPMed
gnomAD
rs981579627 1812 S>G No TOPMed
gnomAD
rs2128582105 1812 S>N No Ensembl
rs1776643916 1812 S>R No Ensembl
rs981579627 1812 S>R No TOPMed
gnomAD
rs2128582105 1812 S>T No Ensembl
rs2128582097 1813 S>C No Ensembl
rs2128582097 1813 S>G No Ensembl
rs1562274440 1813 S>R No Ensembl
rs2128582094 1813 S>T No Ensembl
rs2128582077 1814 V>A No Ensembl
rs2128582077 1814 V>D No Ensembl
rs2128582080 1814 V>F No Ensembl
rs2128582080 1814 V>I No Ensembl
rs2128582080 1814 V>L No Ensembl
rs2128582056 1815 C>* No Ensembl
rs2128582066 1815 C>R No Ensembl
rs374557840 1815 C>S No ESP
ExAC
TOPMed
gnomAD
rs2128582066 1815 C>S No Ensembl
rs2128582056 1815 C>W No Ensembl
rs139756894 1816 T>I No ESP
ExAC
TOPMed
rs139756894 1816 T>K No ESP
ExAC
TOPMed
rs745796221 1816 T>P No ExAC
TOPMed
gnomAD
rs139756894 1816 T>R No ESP
ExAC
TOPMed
rs745796221 1816 T>S No ExAC
TOPMed
gnomAD
COSM4875583
COSM1697822
COSM1697821
COSM1072533
rs1441561770
COSM1072535
1817 W>* Variant assessed as Somatic; HIGH impact. skin endometrium [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
NCI-TCGA
gnomAD
COSM1697822
rs1325118655
COSM1697821
COSM1072533
COSM1072535
1817 W>* Variant assessed as Somatic; HIGH impact. endometrium skin [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1441561770 1817 W>C No gnomAD
rs1364957975 1817 W>R No gnomAD
rs1325118655 1817 W>S No gnomAD
rs2128582022 1818 K>M No Ensembl
rs2128582020 1818 K>N No Ensembl
rs1444793816 1819 S>C No TOPMed
gnomAD
rs1444793816 1819 S>F No TOPMed
gnomAD
rs2128582013 1819 S>P No Ensembl
rs2128582013 1819 S>T No Ensembl
rs1444793816 1819 S>Y No TOPMed
gnomAD
rs2128581993 1820 K>I No Ensembl
rs2128581993 1820 K>R No Ensembl
rs571578275 1821 N>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
NCI-TCGA
gnomAD
rs916060109 1821 N>I No Ensembl
rs916060109 1821 N>S No Ensembl
rs916060109 1821 N>T No Ensembl
COSM1440053
COSM5140753
1821 N>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
TCGA novel
rs2128581956
1822 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2128581950 1822 L>P No Ensembl
rs2128581950 1822 L>Q No Ensembl
rs2128581956 1822 L>V No Ensembl
rs2128581938 1823 K>* No Ensembl
rs756847163 1823 K>N No ExAC
gnomAD
rs1776641070 1824 G>A No Ensembl
rs1776641070 1824 G>E No Ensembl
rs2128581929 1824 G>R No Ensembl
rs1776641070 1824 G>V No Ensembl
rs2128581903 1825 I>K No Ensembl
rs199815114 1825 I>M No 1000Genomes
ExAC
TOPMed
gnomAD
rs991660668 1825 I>V No TOPMed
gnomAD
COSM272180
rs2128581888
COSM272179
1826 F>L large_intestine Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
Ensembl
NCI-TCGA Cosmic
rs1172893180 1826 F>S No gnomAD
rs1172893180 1826 F>Y No gnomAD
rs867760368 1827 Q>* No Ensembl
rs867760368 1827 Q>E No Ensembl
rs1562274313 1827 Q>H No Ensembl
rs867760368 1827 Q>K No Ensembl
rs1202977274 1827 Q>L No gnomAD
rs1202977274 1827 Q>R No gnomAD
rs2128581860 1828 F>I No Ensembl
rs2128581848 1828 F>L No Ensembl
rs2128581860 1828 F>L No Ensembl
rs2128581860 1828 F>V No Ensembl
rs2128581856 1828 F>Y No Ensembl
rs2128581842 1829 R>* No Ensembl
rs2128581842 1829 R>G No Ensembl
rs2128581835 1829 R>I No Ensembl
TCGA novel 1829 R>missing Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128581835 1829 R>K No Ensembl
TCGA novel
rs2128581835
1829 R>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2128581817 1830 V>E No Ensembl
rs2128581817 1830 V>G No Ensembl
rs1263855825 1830 V>I No TOPMed
rs1263855825 1830 V>L No TOPMed
rs1266780413 1831 V>A No gnomAD
rs1266780413 1831 V>E No gnomAD
rs777604573 1831 V>I No ExAC
TOPMed
gnomAD
rs777604573 1831 V>L No ExAC
TOPMed
gnomAD
rs2128581783 1832 A>D No Ensembl
rs2128581783 1832 A>G No Ensembl
rs2128581791 1832 A>P No Ensembl
rs2128581791 1832 A>S No Ensembl
rs2128581791 1832 A>T No Ensembl
rs2128581783 1832 A>V No Ensembl
rs1017229529 1833 A>E No gnomAD
rs1017229529 1833 A>G No gnomAD
rs2128581772 1833 A>P No Ensembl
rs2128581772 1833 A>T No Ensembl
rs1017229529 1833 A>V No gnomAD
rs2128581765 1834 N>K No Ensembl
rs1562274270 1834 N>S No Ensembl
rs2128581759 1835 N>I No Ensembl
rs2128581758 1835 N>K No Ensembl
rs2128581751 1836 L>Q No Ensembl
rs2128581755 1836 L>V No Ensembl
rs2128581733 1837 G>A No Ensembl
rs2128581733 1837 G>E No Ensembl
rs2128581744 1837 G>R No Ensembl
rs2128581733 1837 G>V No Ensembl
TCGA novel
rs2128581744
1837 G>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2128581719 1838 F>I No Ensembl
rs2128581719 1838 F>L No Ensembl
rs753176603 1838 F>L No ExAC
gnomAD
rs2128581719 1838 F>V No Ensembl
rs2128581713 1838 F>Y No Ensembl
rs2128581702 1839 G>A No Ensembl
rs147253951 1839 G>C No ESP
ExAC
gnomAD
rs2128581702 1839 G>D No Ensembl
rs2128581702 1839 G>V No Ensembl
COSM1072530
rs2128581694
COSM1072532
COSM4865525
1840 E>* Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
Ensembl
rs2128581694 1840 E>K No Ensembl
rs377348361 1841 Y>* No ESP
ExAC
TOPMed
gnomAD
rs755458230 1841 Y>C No ExAC
gnomAD
rs2128581691 1841 Y>D No Ensembl
rs755458230 1841 Y>F No ExAC
gnomAD
rs2128581691 1841 Y>N No Ensembl
rs1776638145 1842 S>C No TOPMed
rs1776638145 1842 S>G No TOPMed
rs1229224998 1842 S>N No gnomAD
rs766406712 1842 S>R No ExAC
gnomAD
rs1229224998 1842 S>T No gnomAD
rs2128581669 1843 G>* No Ensembl
rs2128581663 1843 G>A No Ensembl
COSM4394786
COSM4394787
rs2128581669
1843 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2128581660 1844 I>L No Ensembl
rs2128581647 1844 I>M No Ensembl
rs2128581654 1844 I>N No Ensembl
rs2128581654 1844 I>S No Ensembl
rs2128581660 1844 I>V No Ensembl
rs1163897006 1845 S>C No TOPMed
gnomAD
rs1163897006 1845 S>G No TOPMed
gnomAD
rs2128581636 1845 S>I No Ensembl
rs2128581636 1845 S>N No Ensembl
rs2128581633 1845 S>R No Ensembl
rs1163897006 1845 S>R No TOPMed
gnomAD
rs2128581636 1845 S>T No Ensembl
rs763061412 1846 E>G No ExAC
gnomAD
rs2128581629 1846 E>K No Ensembl
rs2128581629 1846 E>Q No Ensembl
rs2128581615 1847 N>K No Ensembl
rs2128581623 1847 N>Y No Ensembl
rs765553432 1848 I>F No ExAC
gnomAD
rs765553432 1848 I>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs2128581605 1848 I>N No Ensembl
rs2128581605 1848 I>T No Ensembl
rs765553432 1848 I>V No ExAC
gnomAD
rs2128581593 1849 I>K No Ensembl
rs1329285758 1849 I>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs143846827 1849 I>V No ESP
ExAC
TOPMed
gnomAD
rs1399029201 1850 L>* No TOPMed
gnomAD
rs1390601271 1850 L>F No gnomAD
rs2128581574 1851 V>D No Ensembl
rs2128581577 1851 V>F No Ensembl
rs2128581577 1851 V>I No Ensembl
rs2128581577 1851 V>L No Ensembl
rs1776636276 1852 G>* No Ensembl
rs2128581568 1852 G>A No Ensembl
rs2128581568 1852 G>E No Ensembl
rs1776636276 1852 G>R No Ensembl
rs2128581568 1852 G>V No Ensembl
rs138265888 1853 D>A No ESP
ExAC
TOPMed
gnomAD
rs1776495123 1853 D>E No Ensembl
rs138265888 1853 D>G No ESP
ExAC
TOPMed
gnomAD
rs1776636107 1853 D>H No Ensembl
rs1776636107 1853 D>N No Ensembl
rs1776636107 1853 D>Y No Ensembl
TCGA novel
rs192321490
1854 D>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No 1000Genomes
ExAC
TOPMed
gnomAD
NCI-TCGA
rs1158436866 1854 D>G No gnomAD
rs1776494978 1854 D>H No TOPMed
gnomAD
rs1776494978 1854 D>N No TOPMed
gnomAD
rs1158436866 1854 D>V No gnomAD
rs1776494978 1854 D>Y No TOPMed
gnomAD
TCGA novel
rs2128575146
1855 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2128575152 1855 F>S No Ensembl
rs1776494361 1855 F>V No gnomAD
rs2128575133 1856 W>* No Ensembl
rs2128575133 1856 W>C No Ensembl
rs2128575139 1856 W>G No Ensembl
rs2128575139 1856 W>R No Ensembl
rs1776493978 1857 I>K No TOPMed
rs2128575129 1857 I>M No Ensembl
rs1776493791 1858 P>A No Ensembl
rs1185894476 1858 P>L No gnomAD
rs1185894476 1858 P>R No gnomAD
rs1776493791 1858 P>S No Ensembl
COSM4946245
COSM1568110
COSM1568111
rs1776493791
1858 P>T Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
Ensembl
rs2128575102 1859 E>D No Ensembl
rs1366078744 1859 E>G No gnomAD
rs2128575114 1859 E>K No Ensembl
rs2128575114 1859 E>Q No Ensembl
rs1366078744 1859 E>V No gnomAD
rs1256328685 1860 T>I No gnomAD
rs1423646118 1860 T>P No gnomAD
rs1256328685 1860 T>R No gnomAD
rs1423646118 1860 T>S No gnomAD
rs774405508 1861 S>C No ExAC
gnomAD
rs774405508 1861 S>G No ExAC
gnomAD
rs2128575084 1861 S>I No Ensembl
rs2128575084 1861 S>N No Ensembl
rs2128575078 1861 S>R No Ensembl
rs2128575084 1861 S>T No Ensembl
rs2128575076 1862 F>I No Ensembl
rs1299626570 1862 F>L No TOPMed
rs2128575067 1862 F>S No Ensembl
rs2128575067 1862 F>Y No Ensembl
rs2128575049 1863 I>K No Ensembl
rs771062502 1863 I>L No ExAC
TOPMed
gnomAD
rs2128575045 1863 I>M No Ensembl
rs2128575049 1863 I>T No Ensembl
rs771062502 1863 I>V No ExAC
TOPMed
gnomAD
rs762992946 1864 L>F No ExAC
gnomAD
rs2128575030 1864 L>H No 1000Genomes
rs762992946 1864 L>I No ExAC
gnomAD
TCGA novel
rs2128575030
1864 L>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
1000Genomes
rs762992946 1864 L>V No ExAC
gnomAD
rs772723253 1865 T>A No ExAC
gnomAD
rs373534757
COSM1568113
COSM4946293
COSM1568112
1865 T>I Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
ESP
ExAC
TOPMed
gnomAD
rs373534757 1865 T>S No ESP
ExAC
TOPMed
gnomAD
rs2128575006 1866 I>F No Ensembl
rs1281863309 1867 I>T No TOPMed
gnomAD
rs1357854573 1868 V>A No TOPMed
rs1357854573 1868 V>D No TOPMed
rs2128574993 1868 V>F No Ensembl
rs2128574993 1868 V>I No Ensembl
rs2128574993 1868 V>L No Ensembl
rs747799388 1869 G>A No ExAC
gnomAD
rs747799388 1869 G>E No ExAC
gnomAD
rs1246573918 1869 G>R No TOPMed
rs747799388 1869 G>V No ExAC
gnomAD
rs2128574958 1870 I>K No Ensembl
rs2128574965 1870 I>L No Ensembl
rs2128574953 1870 I>M No Ensembl
rs2128574958 1870 I>R No Ensembl
rs2128574958 1870 I>T No Ensembl
rs2128574947 1871 F>L No Ensembl
rs1354660665 1871 F>L No gnomAD
rs1354660665 1871 F>V No gnomAD
rs2128574936 1872 L>P No Ensembl
rs2128574936 1872 L>Q No Ensembl
rs2128574941 1872 L>V No Ensembl
rs1416865807 1873 V>F No gnomAD
rs1416865807 1873 V>I No gnomAD
rs1416865807 1873 V>L No gnomAD
rs2128574910 1874 V>A No Ensembl
rs2128574910 1874 V>D No Ensembl
rs2128574910 1874 V>G No Ensembl
rs2128574918 1874 V>I No Ensembl
rs2128574918 1874 V>L No Ensembl
rs1338433823 1875 T>I No gnomAD
rs1338433823 1875 T>R No gnomAD
rs1317756919 1876 I>F No gnomAD
rs1317756919 1876 I>L No gnomAD
rs768985780 1876 I>M No ExAC
gnomAD
rs2128574885 1876 I>N No Ensembl
rs1317756919 1876 I>V No gnomAD
rs147114498 1877 P>A No ESP
TOPMed
gnomAD
rs2128574874 1877 P>L No Ensembl
rs2128574874 1877 P>Q No Ensembl
rs2128574874 1877 P>R No Ensembl
rs147114498 1877 P>S No ESP
TOPMed
gnomAD
rs147114498 1877 P>T No ESP
TOPMed
gnomAD
rs2128574861 1878 L>P No Ensembl
rs2128574861 1878 L>Q No Ensembl
rs2128574864 1878 L>V No Ensembl
rs1365189835 1879 T>I No gnomAD
rs1365189835 1879 T>N No gnomAD
rs1365189835 1879 T>S No gnomAD
rs2128574852 1879 T>S No Ensembl
rs2128574837 1880 F>I No Ensembl
rs2128574837 1880 F>L No Ensembl
rs2128574830 1880 F>L No Ensembl
rs2128574836 1880 F>S No Ensembl
rs2128574836 1880 F>Y No Ensembl
rs2128563736 1881 V>D No Ensembl
rs2128574826 1881 V>F No Ensembl
rs2128574826 1881 V>I No Ensembl
rs2128574826 1881 V>L No Ensembl
rs2128563722 1882 W>* No Ensembl
rs779681565 1882 W>* No Ensembl
rs779681565 1882 W>C No Ensembl
rs2128563722 1882 W>L No Ensembl
rs2128563728 1882 W>R No Ensembl
rs2128563722 1882 W>S No Ensembl
TCGA novel 1883 H>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs368278112 1883 H>Q No ESP
ExAC
gnomAD
rs768363603 1883 H>R No ExAC
TOPMed
gnomAD
rs867259158 1884 R>* No Ensembl
rs867259158 1884 R>G No Ensembl
rs2128563706
COSM360222
COSM360221
1884 R>I lung [Cosmic] No cosmic curated
Ensembl
rs2128563706
COSM1697819
COSM1697820
1884 R>K skin [Cosmic] No cosmic curated
Ensembl
rs1776281708 1884 R>S No gnomAD
rs2128563706 1884 R>T No Ensembl
rs2128563694 1885 R>* No Ensembl
rs2128563691 1885 R>I No Ensembl
rs2128563691 1885 R>K No Ensembl
rs2128563691 1885 R>T No Ensembl
rs2128563680 1886 L>* No Ensembl
rs531342025 1886 L>F No Ensembl
rs2128563685 1886 L>I No Ensembl
rs2128563669 1887 K>M No Ensembl
rs2128563666 1887 K>N No Ensembl
COSM1072527
COSM4870129
rs1243356301
COSM1072529
1887 K>Q Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs2128563660 1888 N>D No Ensembl
rs2128563655 1888 N>K No Ensembl
rs932526376 1888 N>S No Ensembl
rs2128563660 1888 N>Y No Ensembl
rs1191591961 1889 Q>* No gnomAD
rs1191591961 1889 Q>E No gnomAD
rs2128563638 1889 Q>H No Ensembl
rs1191591961 1889 Q>K No gnomAD
rs1015032434 1889 Q>L No Ensembl
COSM1072524
rs1015032434
COSM1072526
COSM4876074
1889 Q>P Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
Ensembl
rs1015032434 1889 Q>R No Ensembl
rs144529412 1890 K>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000905994
rs144529412
1890 K>E No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs772446253 1890 K>I No ExAC
gnomAD
rs2128563625 1890 K>N No Ensembl
COSM1720289
rs772446253
COSM1720288
1890 K>R NS [Cosmic] No cosmic curated
ExAC
gnomAD
rs1484121618 1891 S>C No TOPMed
gnomAD
rs1484121618 1891 S>G No TOPMed
gnomAD
rs1776279723 1891 S>N No Ensembl
rs1215308837 1891 S>R No TOPMed
gnomAD
rs2128563611 1892 A>D No Ensembl
rs2128563611 1892 A>G No Ensembl
rs2128563619 1892 A>P No Ensembl
rs2128563619 1892 A>S No Ensembl
rs2128563619 1892 A>T No Ensembl
rs2128563611 1892 A>V No Ensembl
rs1776279132 1893 K>M No TOPMed
rs1776278991 1893 K>N No gnomAD
rs1776279132 1893 K>R No TOPMed
rs2128563596 1894 E>* No Ensembl
rs1562269193
COSM3857786
COSM3857785
1894 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA Cosmic
rs2128563596
TCGA novel
1894 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2128563596 1894 E>Q No Ensembl
rs2128563579 1895 G>A No Ensembl
rs2128563579 1895 G>E No Ensembl
rs1582613950 1895 G>R No TOPMed
rs1582613950 1895 G>W No TOPMed
rs1215395631 1896 V>A No gnomAD
rs2128563569 1896 V>M No Ensembl
rs2128563554 1897 T>I No Ensembl
rs2128563554 1897 T>R No Ensembl
rs1273188915 1898 V>E No gnomAD
rs2128563543
TCGA novel
1898 V>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs2128563543 1898 V>M No Ensembl
rs2128563534 1899 L>F No Ensembl
rs2128563529 1899 L>H No Ensembl
rs2128563529 1899 L>P No Ensembl
rs2128563534 1899 L>V No Ensembl
rs2128563523 1900 I>K No Ensembl
rs757333668 1900 I>M No ExAC
gnomAD
rs2128563523 1900 I>R No Ensembl
rs2128563518 1901 N>I No Ensembl
rs9489124 1902 E>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1354382723 1902 E>D No gnomAD
RCV000949726
VAR_030653
rs9489124
1902 E>K No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs9489124 1902 E>Q No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128563505 1902 E>V No Ensembl
rs2128563494 1903 D>A No Ensembl
rs2128563490 1903 D>E No Ensembl
rs2128563494 1903 D>G No Ensembl
rs2128563501 1903 D>H No Ensembl
rs2128563501 1903 D>N No Ensembl
rs2128563494 1903 D>V No Ensembl
TCGA novel 1903 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs752993568 1904 K>* No ExAC
gnomAD
rs752993568 1904 K>E No ExAC
gnomAD
rs2128563483 1904 K>I No Ensembl
rs2128563480 1904 K>N No Ensembl
rs2128563483 1904 K>R No Ensembl
rs1776276302 1905 E>D No Ensembl
rs1776276465 1905 E>K No Ensembl
COSM4849994
rs1776276465
COSM4849995
1905 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2128563471 1905 E>V No Ensembl
rs2128563462 1906 L>* No Ensembl
rs2128563456 1906 L>F No Ensembl
rs2128563466 1906 L>M No Ensembl
rs2128563462 1906 L>S No Ensembl
rs2128563466 1906 L>V No Ensembl
rs2128563462 1906 L>W No Ensembl
rs2128563445 1907 A>D No Ensembl
rs2128563445 1907 A>G No Ensembl
rs1193401267 1907 A>P No TOPMed
gnomAD
TCGA novel
rs1193401267
1907 A>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs1193401267 1907 A>T No TOPMed
gnomAD
rs2128563445 1907 A>V No Ensembl
rs900769132 1908 E>* No Ensembl
rs1171222730 1908 E>D No TOPMed
gnomAD
rs1420974283 1908 E>G No gnomAD
rs900769132 1908 E>K No Ensembl
rs900769132 1908 E>Q No Ensembl
rs1420974283 1908 E>V No gnomAD
rs2128563414 1909 L>P No Ensembl
rs2128563414 1909 L>Q No Ensembl
rs2128563417 1909 L>V No Ensembl
COSM1487168
rs750354810
COSM1487167
COSM4815175
1910 R>* Variant assessed as Somatic; HIGH impact. breast [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs750354810 1910 R>G No ExAC
TOPMed
gnomAD
rs765146445 1910 R>P No ExAC
gnomAD
rs765146445 1910 R>Q No ExAC
gnomAD
rs1195494731 1911 G>A No gnomAD
rs2128563388 1911 G>C No Ensembl
rs1195494731 1911 G>D No gnomAD
rs2128563388 1911 G>R No Ensembl
rs2128563388 1911 G>S No Ensembl
rs1195494731 1911 G>V No gnomAD
rs761381751 1912 L>P No ExAC
TOPMed
gnomAD
rs761381751 1912 L>Q No ExAC
TOPMed
gnomAD
rs2128563376 1912 L>V No Ensembl
rs1232097218 1913 A>G No gnomAD
rs1225424758 1913 A>P No TOPMed
gnomAD
rs1225424758 1913 A>S No TOPMed
gnomAD
rs1225424758 1913 A>T No TOPMed
gnomAD
rs1206955918 1914 A>D No Ensembl
rs1206955918 1914 A>G No Ensembl
rs2128563348 1914 A>P No Ensembl
rs2128563348 1914 A>T No Ensembl
rs1206955918 1914 A>V No Ensembl
rs759091073 1915 G>* No ExAC
TOPMed
gnomAD
rs759091073 1915 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs1776272603 1915 G>V No TOPMed
rs1582613564 1916 V>A No Ensembl
rs1582613564 1916 V>E No Ensembl
rs1582613564 1916 V>G No Ensembl
rs201309045 1916 V>I No 1000Genomes
rs201309045 1916 V>L No 1000Genomes
rs775152205 1917 G>A No ExAC
gnomAD
rs2128563292 1917 G>C No Ensembl
rs775152205 1917 G>D No ExAC
gnomAD
rs2128563292 1917 G>R No Ensembl
rs2128563292 1917 G>S No Ensembl
rs775152205 1917 G>V No ExAC
gnomAD
rs1438069741 1918 L>P No TOPMed
gnomAD
rs1438069741 1918 L>Q No TOPMed
gnomAD
rs201816432 1918 L>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs2128563262 1919 A>P No Ensembl
rs2128563262 1919 A>S No Ensembl
rs2128563262 1919 A>T No Ensembl
rs1348779301 1919 A>V No TOPMed
gnomAD
rs2128563248 1920 N>H No Ensembl
rs2128563241 1920 N>I No Ensembl
rs2128563241 1920 N>S No Ensembl
rs2128563248 1920 N>Y No Ensembl
rs2128563225 1921 A>G No Ensembl
rs2128563230 1921 A>P No Ensembl
rs2128563230 1921 A>S No Ensembl
rs2128563230 1921 A>T No Ensembl
rs2128563225 1921 A>V No Ensembl
rs2128563211 1922 C>F No Ensembl
rs2128563211 1922 C>S No Ensembl
rs2128563217 1922 C>S No Ensembl
rs1361114278 1922 C>W No TOPMed
rs2128563211 1922 C>Y No Ensembl
rs2128563199 1923 Y>* No Ensembl
rs149066655 1923 Y>C No ESP
TOPMed
gnomAD
rs149066655 1923 Y>F No ESP
TOPMed
gnomAD
rs2128563206 1923 Y>H No Ensembl
rs2128563206 1923 Y>N No Ensembl
rs2128563192 1924 A>G No Ensembl
rs952758019 1924 A>S No TOPMed
gnomAD
TCGA novel
rs2128563192
1924 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2128563185 1925 I>K No Ensembl
rs2128563180 1925 I>M No Ensembl
rs2128563185 1925 I>R No Ensembl
rs144955662 1926 H>D No ESP
ExAC
TOPMed
gnomAD
rs771279875 1926 H>L No ExAC
TOPMed
gnomAD
rs144955662 1926 H>N No ESP
ExAC
TOPMed
gnomAD
rs2128559202 1926 H>Q No Ensembl
rs771279875 1926 H>R No ExAC
TOPMed
gnomAD
rs144955662 1926 H>Y No ESP
ExAC
TOPMed
gnomAD
rs1776181305 1927 T>I No TOPMed
gnomAD
rs2128559200 1927 T>P No Ensembl
rs1776181305 1927 T>S No TOPMed
gnomAD
rs2128559200 1927 T>S No Ensembl
COSM202090
COSM202089
rs2128559187
1928 L>F large_intestine [Cosmic] No cosmic curated
Ensembl
rs2128559182 1928 L>H No Ensembl
rs2128559187 1928 L>I No Ensembl
rs2128559187 1928 L>V No Ensembl
rs1420331738 1929 P>A No gnomAD
rs2128559170
TCGA novel
1929 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2128559170 1929 P>Q No Ensembl
rs2128559170 1929 P>R No Ensembl
rs1420331738 1929 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
gnomAD
rs1420331738 1929 P>T No gnomAD
COSM4454781
COSM4454782
rs1467543506
1930 T>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
gnomAD
rs763424996 1930 T>I No ExAC
gnomAD
rs763424996 1930 T>N No ExAC
gnomAD
rs1467543506 1930 T>P No TOPMed
gnomAD
rs763424996 1930 T>S No ExAC
gnomAD
rs1467543506 1930 T>S No TOPMed
gnomAD
rs2128559146 1931 Q>* No Ensembl
rs1776180125 1931 Q>H No Ensembl
rs762415150 1932 E>D No ExAC
gnomAD
rs773843792 1932 E>K No ExAC
gnomAD
rs773843792 1932 E>Q No ExAC
gnomAD
rs776794430 1933 E>D No ExAC
gnomAD
rs2128559131 1933 E>G No Ensembl
COSM3157686
COSM3157687
1933 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128559131 1933 E>V No Ensembl
rs2128559120 1934 I>F No Ensembl
rs145318764 1934 I>M No ESP
TOPMed
gnomAD
rs1562267809 1934 I>N No Ensembl
rs1562267809 1934 I>S No Ensembl
rs1562267809 1934 I>T No Ensembl
rs2128559111 1935 E>D No Ensembl
rs1266834243 1936 N>I No TOPMed
gnomAD
rs1266834243 1936 N>S No TOPMed
gnomAD
rs1266834243 1936 N>T No TOPMed
gnomAD
rs2128559108 1936 N>Y No Ensembl
rs2128559097 1937 L>F No Ensembl
rs2128559091 1937 L>H No Ensembl
rs2128559091 1937 L>P No Ensembl
rs2128559097 1937 L>V No Ensembl
rs2128559085 1938 P>A No Ensembl
rs2128559082 1938 P>H No Ensembl
rs2128559082 1938 P>L No Ensembl
rs2128559082 1938 P>R No Ensembl
rs2128559085 1938 P>S No Ensembl
rs747157273 1939 A>D No ExAC
TOPMed
gnomAD
rs747157273 1939 A>G No ExAC
TOPMed
gnomAD
rs2128559075 1939 A>P No Ensembl
rs2128559075 1939 A>S No Ensembl
rs2128559075 1939 A>T No Ensembl
rs747157273 1939 A>V No ExAC
TOPMed
gnomAD
rs2128559064 1940 F>I No Ensembl
rs2128559064 1940 F>L No Ensembl
rs2128559060 1941 P>A No Ensembl
rs1306349293 1941 P>L No gnomAD
rs2128559060 1941 P>S No Ensembl
rs2128559060 1941 P>T No Ensembl
rs370269692 1942 R>G No ESP
ExAC
TOPMed
gnomAD
COSM739505
COSM739504
COSM1647879
rs1562267726
1942 R>L lung [Cosmic] No cosmic curated
Ensembl
rs1562267726 1942 R>P No Ensembl
rs1562267726 1942 R>Q No Ensembl
rs370269692 1942 R>W No ESP
ExAC
TOPMed
gnomAD
rs2128559025 1943 E>D No Ensembl
COSM3619825
rs866970127
COSM3619824
1943 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
NCI-TCGA
rs376207197 1944 K>E No ESP
ExAC
gnomAD
rs2128559020 1944 K>I No Ensembl
rs2128559016 1944 K>N No Ensembl
COSM1440049
COSM4783524
COSM1440048
rs2128559013
1945 L>P Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
Ensembl
rs2128559013 1945 L>Q No Ensembl
rs2128559008 1946 T>A No Ensembl
rs2128559008 1946 T>P No Ensembl
rs2128559008 1946 T>S No Ensembl
rs2128559002 1946 T>S No Ensembl
rs2128558996 1947 L>V No Ensembl
rs777678761 1948 R>C No ExAC
TOPMed
gnomAD
rs777678761 1948 R>G No ExAC
TOPMed
gnomAD
rs140237260 1948 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs140237260 1948 R>L No ESP
ExAC
TOPMed
gnomAD
rs777678761 1948 R>S No ExAC
TOPMed
gnomAD
rs2128558980
COSM5922541
COSM5922542
1949 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2128558972 1949 L>H No Ensembl
rs2128558980 1949 L>V No Ensembl
rs1776175234 1950 L>F No Ensembl
rs1776175430 1950 L>M No Ensembl
rs2128558962 1950 L>S No Ensembl
COSM1072521
COSM1072523
rs2128558952
1951 L>M endometrium [Cosmic] No cosmic curated
Ensembl
rs1776175069 1951 L>P No TOPMed
rs1776175069 1951 L>Q No TOPMed
rs1776175069 1951 L>R No TOPMed
rs2128558952 1951 L>V No Ensembl
rs2128558939 1952 G>E No Ensembl
rs2128558941 1952 G>R No Ensembl
rs1776174545 1953 S>C No Ensembl
rs1776174545 1953 S>G No Ensembl
rs2128558929 1953 S>I No Ensembl
rs2128558929 1953 S>N No Ensembl
rs2128558923 1953 S>R No Ensembl
rs2128558929 1953 S>T No Ensembl
rs752657920 1954 G>E No ExAC
gnomAD
rs1776174228 1955 A>D No TOPMed
rs1776174228 1955 A>G No TOPMed
rs780532965 1955 A>P No ExAC
gnomAD
rs780532965 1955 A>S No ExAC
gnomAD
rs780532965 1955 A>T No ExAC
gnomAD
rs1776174228 1955 A>V No TOPMed
rs2128558883 1956 F>I No Ensembl
rs1207412705 1956 F>L No TOPMed
gnomAD
rs2128558878 1956 F>Y No Ensembl
rs2128558870 1957 G>* No Ensembl
rs2128558863 1957 G>A No Ensembl
rs2128558863 1957 G>E No Ensembl
rs2128558870 1957 G>R No Ensembl
rs2128558863 1957 G>V No Ensembl
rs986549979 1958 E>* No TOPMed
rs2128558846 1958 E>D No Ensembl
rs1776173488 1958 E>G No Ensembl
rs986549979 1958 E>K No TOPMed
rs986549979 1958 E>Q No TOPMed
rs1776173488 1958 E>V No Ensembl
rs2128558837 1959 V>A No Ensembl
rs2128558837 1959 V>E No Ensembl
rs2128558837 1959 V>G No Ensembl
rs2128558841 1959 V>L No Ensembl
rs2128558841 1959 V>M No Ensembl
rs2128558828 1960 Y>* No Ensembl
rs138420858 1960 Y>C No 1000Genomes
ExAC
gnomAD
rs2128558832 1960 Y>D No Ensembl
rs138420858 1960 Y>F No 1000Genomes
ExAC
gnomAD
COSM4868810
COSM1072520
1960 Y>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128558832 1960 Y>N No Ensembl
rs2128558824 1961 E>* No Ensembl
rs2128558817 1961 E>A No Ensembl
rs2128558810 1961 E>D No Ensembl
rs2128558817 1961 E>G No Ensembl
rs2128558824 1961 E>K No Ensembl
rs2128558824 1961 E>Q No Ensembl
rs2128558817 1961 E>V No Ensembl
rs751153523 1962 G>A No ExAC
TOPMed
gnomAD
rs751153523 1962 G>E No ExAC
TOPMed
gnomAD
rs2128558804 1962 G>R No Ensembl
rs751153523 1962 G>V No ExAC
TOPMed
gnomAD
rs1455810428 1963 T>I No TOPMed
gnomAD
rs1455810428 1963 T>K No TOPMed
gnomAD
rs1455810428 1963 T>R No TOPMed
gnomAD
rs2128558791 1963 T>S No Ensembl
rs2128558772 1964 A>E No Ensembl
rs2128558772 1964 A>G No Ensembl
rs766115237 1964 A>P No ExAC
TOPMed
gnomAD
COSM284673
COSM284674
rs766115237
1964 A>T Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2128558772 1964 A>V No Ensembl
rs2128558758 1965 V>A No Ensembl
rs2128558758 1965 V>E No Ensembl
rs2128558764 1965 V>L No Ensembl
rs2128558764 1965 V>M No Ensembl
rs2128558739 1966 D>E No Ensembl
rs2128558746 1966 D>H No Ensembl
rs2128558746 1966 D>N No Ensembl
rs2128558746 1966 D>Y No Ensembl
rs765711132 1967 I>F No ExAC
gnomAD
rs2128558728 1967 I>M No Ensembl
rs1486456431 1967 I>N No TOPMed
rs765711132 1967 I>V No ExAC
gnomAD
rs2128558718 1968 L>* No Ensembl
rs2128558727 1968 L>I No Ensembl
rs1776170037 1969 G>R No TOPMed
rs2128558707 1969 G>V No Ensembl
rs371159504 1970 V>A No ESP
ExAC
TOPMed
gnomAD
rs371159504 1970 V>D No ESP
ExAC
TOPMed
gnomAD
rs371159504 1970 V>G No ESP
ExAC
TOPMed
gnomAD
rs2128558700 1970 V>I No Ensembl
rs2128558700 1970 V>L No Ensembl
rs2128558680 1971 G>A No Ensembl
rs2128558680 1971 G>E No Ensembl
rs760855335 1971 G>R No ExAC
TOPMed
gnomAD
rs2128558680 1971 G>V No Ensembl
rs2128558671 1972 S>C No Ensembl
rs2128558671 1972 S>G No Ensembl
rs1332539257 1972 S>I No gnomAD
rs1332539257 1972 S>N No gnomAD
rs2128558658 1972 S>R No Ensembl
rs1332539257 1972 S>T No gnomAD
rs1216964547 1973 G>* No Ensembl
rs2128558644 1973 G>A No Ensembl
rs2128558644 1973 G>E No Ensembl
rs1216964547 1973 G>R No Ensembl
rs2128558644 1973 G>V No Ensembl
rs2128558637 1974 E>G No Ensembl
COSM3857782
COSM3857781
1974 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs146653150 1975 I>M No ESP
ExAC
TOPMed
gnomAD
rs1776167165 1975 I>V No Ensembl
rs2128558615 1976 K>E No Ensembl
rs2128558612 1976 K>I No Ensembl
rs2128558612 1976 K>T No Ensembl
rs145889490 1977 V>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs145889490 1977 V>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128558588 1978 A>E No Ensembl
rs2128558588 1978 A>G No Ensembl
rs1373810021 1978 A>P No TOPMed
rs1373810021 1978 A>T No TOPMed
rs2128558588 1978 A>V No Ensembl
rs2128558575 1979 V>E No Ensembl
rs2128558575 1979 V>G No Ensembl
rs2128558582 1979 V>L No Ensembl
rs2128558582 1979 V>M No Ensembl
rs377281534 1980 K>E No ESP
ExAC
TOPMed
gnomAD
rs1432927530 1980 K>M No gnomAD
rs2128558551 1980 K>N No Ensembl
rs377281534 1980 K>Q No ESP
ExAC
TOPMed
gnomAD
rs1432927530 1980 K>R No gnomAD
rs994343717 1981 T>I No Ensembl
rs768571352 1981 T>P No ExAC
gnomAD
COSM1440046
rs768571352
COSM1440047
1981 T>S large_intestine [Cosmic] No cosmic curated
ExAC
gnomAD
rs994343717
COSM1440046
COSM1440047
1981 T>S large_intestine [Cosmic] No cosmic curated
Ensembl
rs2128556977 1982 L>F No Ensembl
rs2128556974 1983 K>N No Ensembl
rs2128556970 1984 K>M No Ensembl
rs2128556967 1984 K>N No Ensembl
rs2128556970 1984 K>R No Ensembl
rs2128556963 1985 G>C No Ensembl
rs2128556963 1985 G>S No Ensembl
rs2128556954 1986 S>C No Ensembl
rs2128556954 1986 S>F No Ensembl
rs1776055528 1986 S>T No TOPMed
rs2128556954 1986 S>Y No Ensembl
rs746934594 1987 T>A No ExAC
TOPMed
gnomAD
rs758011864 1987 T>I No ExAC
TOPMed
gnomAD
rs758011864 1987 T>K No ExAC
TOPMed
gnomAD
rs1776054678 1988 D>E No TOPMed
rs745485549 1988 D>G No ExAC
gnomAD
rs2128556943 1988 D>H No Ensembl
rs2128556943 1988 D>N No Ensembl
rs745485549 1988 D>V No ExAC
gnomAD
rs2128556943 1988 D>Y No Ensembl
rs1351039722 1989 Q>* No gnomAD
rs1351039722 1989 Q>E No gnomAD
rs139620900 1989 Q>H No ESP
ExAC
TOPMed
gnomAD
rs1351039722 1989 Q>K No gnomAD
rs1776053836 1990 E>* No Ensembl
rs2128556917 1990 E>D No Ensembl
rs1776053836 1990 E>K No Ensembl
rs1776053836 1990 E>Q No Ensembl
rs2128556907 1991 K>N No Ensembl
rs2128556915 1991 K>Q No Ensembl
rs2128556912 1991 K>R No Ensembl
rs150992008 1992 I>N No ESP
ExAC
TOPMed
gnomAD
rs150992008 1992 I>S No ESP
ExAC
TOPMed
gnomAD
rs150992008 1992 I>T No ESP
ExAC
TOPMed
gnomAD
rs906320421 1992 I>V No TOPMed
rs2128556891 1993 E>* No Ensembl
rs1040011127 1993 E>A No TOPMed
rs1040011127 1993 E>G No TOPMed
rs2128556891 1993 E>K No Ensembl
rs2128556891 1993 E>Q No Ensembl
rs2128556885 1994 F>I No Ensembl
rs375091643 1994 F>L No ESP
ExAC
TOPMed
gnomAD
rs2128556882 1994 F>Y No Ensembl
rs2128556875 1995 L>P No Ensembl
rs2128556875 1995 L>Q No Ensembl
rs2128556867 1996 K>* No Ensembl
rs2128556862 1996 K>N No Ensembl
rs1318185001 1996 K>R No TOPMed
gnomAD
rs2128556847 1998 A>G No Ensembl
rs1383276210 1998 A>P No TOPMed
gnomAD
rs1383276210 1998 A>S No TOPMed
gnomAD
rs1383276210 1998 A>T No TOPMed
gnomAD
rs2128556847 1998 A>V No Ensembl
rs756583901 1999 H>L No ExAC
gnomAD
VAR_041455
rs45569132
1999 H>N No UniProt
ExAC
TOPMed
dbSNP
gnomAD
rs2128556831 1999 H>Q No Ensembl
rs756583901 1999 H>R No ExAC
gnomAD
rs2128556827 2000 L>P No Ensembl
rs2128556827 2000 L>Q No Ensembl
rs1461295528 2000 L>V No gnomAD
rs2128556809 2001 M>I No Ensembl
rs2128556814 2001 M>K No Ensembl
rs753178466 2002 S>C No ExAC
gnomAD
rs753178466 2002 S>G No ExAC
gnomAD
rs1776051397 2002 S>N No TOPMed
rs1775985958 2002 S>R No TOPMed
gnomAD
rs1272626011 2003 K>E No gnomAD
VAR_041456 2003 K>R a colorectal adenocarcinoma sample; somatic mutation [UniProt] No UniProt
rs2128555814 2004 F>I No Ensembl
rs2128555812 2004 F>L No Ensembl
rs897773765 2005 N>I No TOPMed
gnomAD
rs897773765 2005 N>S No TOPMed
gnomAD
rs2128555808 2005 N>Y No Ensembl
rs2128555800 2006 H>D No Ensembl
rs2128555797 2006 H>L No Ensembl
rs763916632 2006 H>Q No ExAC
TOPMed
gnomAD
rs2128555800 2006 H>Y No Ensembl
rs760434481 2007 P>A No ExAC
gnomAD
rs2128555792 2007 P>H No Ensembl
rs760434481 2007 P>S No ExAC
gnomAD
rs760434481 2007 P>T No ExAC
gnomAD
rs376237932 2008 N>I No ESP
TOPMed
gnomAD
rs2128555775 2008 N>K No Ensembl
rs376237932 2008 N>S No ESP
TOPMed
gnomAD
rs376237932 2008 N>T No ESP
TOPMed
gnomAD
rs2128555770 2009 I>F No Ensembl
rs2128555768 2009 I>N No Ensembl
rs2128555768 2009 I>S No Ensembl
rs1278741519 2010 L>M No gnomAD
rs1278741519 2010 L>V No gnomAD
rs1401547479 2011 K>* No TOPMed
rs2128555751 2011 K>M No Ensembl
rs2128555747 2011 K>N No Ensembl
rs1401547479 2011 K>Q No TOPMed
rs2128555745 2012 Q>* No Ensembl
rs2128555745 2012 Q>E No Ensembl
rs1234205299 2012 Q>H No gnomAD
rs2128555740 2012 Q>L No Ensembl
rs942065555 2013 L>F No TOPMed
rs2128555727 2013 L>H No Ensembl
rs942065555 2013 L>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs2128555727 2013 L>P No Ensembl
COSM1287693
COSM1287694
rs942065555
2013 L>V Variant assessed as Somatic; MODERATE impact. autonomic_ganglia [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
TOPMed
rs2128555716 2014 G>* No Ensembl
rs2128555713 2014 G>A No Ensembl
rs2128555713 2014 G>E No Ensembl
rs2128555716 2014 G>R No Ensembl
rs2128555713 2014 G>V No Ensembl
rs2128555706 2015 V>A No Ensembl
rs2128555706 2015 V>D No Ensembl
rs2128555708 2015 V>I No Ensembl
rs2128555708 2015 V>L No Ensembl
rs2128555692 2016 C>* No Ensembl
rs2128555695 2016 C>S No Ensembl
rs1775983462 2016 C>S No TOPMed
rs2128555692 2016 C>W No Ensembl
rs2128555695 2016 C>Y No Ensembl
rs1332464408 2017 L>V No TOPMed
gnomAD
rs2128555679 2018 L>Q No Ensembl
rs2128555681 2018 L>V No Ensembl
rs2128555669 2019 N>I No Ensembl
rs775554788 2019 N>K No ExAC
gnomAD
rs2128555670 2019 N>Y No Ensembl
rs2128555663 2020 E>* No Ensembl
rs1440520941 2020 E>D No TOPMed
gnomAD
rs2128555663 2020 E>K No Ensembl
rs2128555663 2020 E>Q No Ensembl
rs2128555661 2020 E>V No Ensembl
rs762511151 2021 P>A No TOPMed
gnomAD
rs2128555654 2021 P>H No Ensembl
rs2128555654 2021 P>L No Ensembl
rs2128555654 2021 P>R No Ensembl
rs762511151 2021 P>S No TOPMed
gnomAD
rs762511151 2021 P>T No TOPMed
gnomAD
rs2128555647 2022 Q>* No Ensembl
rs2128555647 2022 Q>E No Ensembl
rs372757261 2022 Q>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128555647 2022 Q>K No Ensembl
rs2128555631 2023 Y>* No Ensembl
rs2128555635 2023 Y>C No Ensembl
rs2128555635 2023 Y>F No Ensembl
rs2128555641 2023 Y>N No Ensembl
rs2128555626 2024 I>N No Ensembl
rs2128555626 2024 I>T No Ensembl
rs1582600835 2024 I>V No Ensembl
rs2128555619 2025 I>F No Ensembl
rs2128555613 2025 I>M No Ensembl
rs2128555615 2025 I>N No Ensembl
rs2128555610 2026 L>M No Ensembl
rs2128555608 2026 L>P No Ensembl
rs2128555608 2026 L>Q No Ensembl
rs2128555610 2026 L>V No Ensembl
rs1775981779 2027 E>* No Ensembl
rs773937780 2027 E>D No ExAC
gnomAD
rs1775981779 2027 E>K No Ensembl
rs1775981779 2027 E>Q No Ensembl
rs1434062038 2028 L>V No TOPMed
gnomAD
rs2128555578 2029 M>I No Ensembl
rs1337321469 2029 M>K No TOPMed
rs199682124 2029 M>L No ExAC
TOPMed
gnomAD
rs1337321469 2029 M>T No TOPMed
TCGA novel
rs2128555574
2030 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs575209344 2030 E>D No 1000Genomes
ExAC
TOPMed
gnomAD
rs2128555574 2030 E>K No Ensembl
rs2128555574 2030 E>Q No Ensembl
rs2128555565 2031 G>* No Ensembl
rs1468447100 2031 G>A No TOPMed
gnomAD
rs1468447100 2031 G>E No TOPMed
gnomAD
rs2128555565 2031 G>R No Ensembl
rs1468447100 2031 G>V No TOPMed
gnomAD
rs1057519788 2032 G>* No Ensembl
rs777342450 2032 G>A No ExAC
gnomAD
rs777342450 2032 G>E No ExAC
gnomAD
rs777342450 2032 G>V No ExAC
gnomAD
rs557108710 2033 D>E No 1000Genomes
ExAC
TOPMed
gnomAD
rs748581568 2033 D>G No ExAC
TOPMed
gnomAD
rs1484038087 2033 D>H No gnomAD
rs1484038087 2033 D>N No gnomAD
rs748581568 2033 D>V No ExAC
TOPMed
gnomAD
rs2128555531 2034 L>F No Ensembl
rs2128555530 2034 L>H No Ensembl
rs2128555530 2034 L>P No Ensembl
rs2128555531 2034 L>V No Ensembl
rs755420040 2035 L>F No ExAC
TOPMed
gnomAD
rs2128555524 2035 L>H No Ensembl
rs755420040 2035 L>V No ExAC
TOPMed
gnomAD
rs1775978954 2036 T>A No TOPMed
rs2128555510 2036 T>I No Ensembl
rs2128555510 2036 T>S No Ensembl
rs2128555501 2037 Y>H No Ensembl
rs1281394663 2038 L>F No TOPMed
gnomAD
rs2128555497 2038 L>M No Ensembl
rs752085591 2039 R>C No ExAC
TOPMed
gnomAD
rs752085591 2039 R>G No ExAC
TOPMed
gnomAD
VAR_030654
rs3752566
2039 R>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No UniProt
1000Genomes
ESP
ExAC
NCI-TCGA
TOPMed
dbSNP
gnomAD
rs3752566 2039 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs3752566 2039 R>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs752085591 2039 R>S No ExAC
TOPMed
gnomAD
rs2128555469 2040 K>I No Ensembl
rs2128555462 2040 K>N No Ensembl
rs2128555469 2040 K>R No Ensembl
rs1775978230 2041 A>D No TOPMed
rs1775978230 2041 A>G No TOPMed
rs1775978230 2041 A>V No TOPMed
rs758446263 2042 R>G No ExAC
TOPMed
gnomAD
rs369340872 2042 R>L No ESP
ExAC
TOPMed
gnomAD
rs369340872 2042 R>Q No ESP
ExAC
TOPMed
gnomAD
rs758446263 2042 R>W No ExAC
TOPMed
gnomAD
rs2128555441 2043 M>I No Ensembl
rs2128555445 2043 M>K No Ensembl
rs2128555449 2043 M>L No Ensembl
rs2128555445 2043 M>R No Ensembl
rs2128555449 2043 M>V No Ensembl
rs147277840 2044 A>P No ESP
ExAC
gnomAD
rs147277840 2044 A>S No ESP
ExAC
gnomAD
rs147277840 2044 A>T No ESP
ExAC
gnomAD
rs2128555435 2045 T>A No Ensembl
rs957947676 2045 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs957947676 2045 T>R No TOPMed
gnomAD
rs2128555435 2045 T>S No Ensembl
rs2128550100 2046 F>I No Ensembl
COSM1647881
COSM739508
rs2128550096
COSM739509
2046 F>Y lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs2128550090 2047 Y>* No Ensembl
rs2128550086 2047 Y>F No Ensembl
rs1321755162 2047 Y>H No gnomAD
rs1321755162 2047 Y>N No gnomAD
rs2128550068 2048 G>A No Ensembl
rs2128550081 2048 G>C No Ensembl
rs2128550068 2048 G>D No Ensembl
rs2128550081 2048 G>R No Ensembl
rs2128550068 2048 G>V No Ensembl
rs2128550067 2049 P>A No Ensembl
rs1775511666
COSM3619820
COSM3619821
2049 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2128550067 2049 P>S No Ensembl
rs1775511388 2050 L>F No Ensembl
rs2128550051 2051 L>H No Ensembl
rs2128550053 2051 L>V No Ensembl
rs529164211 2052 T>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs529164211 2052 T>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs1562259733 2052 T>P No Ensembl
rs529164211 2052 T>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs1562259733 2052 T>S No Ensembl
rs766298478 2053 L>F No ExAC
gnomAD
rs201894511 2054 V>F No ESP
ExAC
TOPMed
gnomAD
rs201894511 2054 V>I No ESP
ExAC
TOPMed
gnomAD
rs201894511 2054 V>L No ESP
ExAC
TOPMed
gnomAD
rs1775509983 2055 D>E No TOPMed
gnomAD
rs1775510174 2055 D>H No gnomAD
rs1775510174 2055 D>N No gnomAD
rs2128550014 2055 D>V No Ensembl
rs1775510174 2055 D>Y No gnomAD
rs1775509786 2056 L>F No gnomAD
rs2128549994 2056 L>H No Ensembl
rs1775509786 2056 L>I No gnomAD
rs2128549994 2056 L>P No Ensembl
rs1034471676 2057 V>A No TOPMed
rs1436986770 2057 V>I No gnomAD
rs1436986770 2057 V>L No gnomAD
rs2128549948 2058 D>E No Ensembl
rs764825728 2058 D>G No ExAC
gnomAD
rs772539932 2058 D>H No ExAC
gnomAD
rs772539932 2058 D>N No ExAC
gnomAD
rs764825728 2058 D>V No ExAC
gnomAD
rs772539932 2058 D>Y No ExAC
gnomAD
TCGA novel 2059 L>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs761415842 2059 L>P No ExAC
gnomAD
rs761415842 2059 L>Q No ExAC
gnomAD
rs2128549941 2059 L>V No Ensembl
rs368003464 2060 C>* No ESP
ExAC
gnomAD
rs2128549911 2060 C>F No Ensembl
rs1393239973 2060 C>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
gnomAD
rs2128549911 2060 C>S No Ensembl
rs1393239973 2060 C>S No TOPMed
gnomAD
TCGA novel 2061 V>A Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs2128549892 2061 V>E No Ensembl
rs2128549900 2061 V>I No Ensembl
rs2128549900 2061 V>L No Ensembl
rs1775507652 2062 D>E No Ensembl
rs2128549875 2062 D>H No Ensembl
rs2128549875 2062 D>N No Ensembl
rs2128549872 2062 D>V No Ensembl
rs2128549875 2062 D>Y No Ensembl
rs2128549864 2063 I>F No Ensembl
rs193121244 2063 I>N No 1000Genomes
ExAC
gnomAD
rs2128549848 2064 S>* No Ensembl
rs2128549848 2064 S>L No Ensembl
rs2128549852 2064 S>T No Ensembl
rs776060632 2065 K>* No ExAC
gnomAD
rs776060632 2065 K>E No ExAC
gnomAD
rs1775506664 2066 G>A No Ensembl
COSM6172043
COSM6172042
2066 G>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1775506664 2066 G>D No Ensembl
rs1775506664 2066 G>V No Ensembl
rs2128549811 2067 C>* No Ensembl
COSM3857777
COSM3857778
2067 C>G Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs772393224 2067 C>R No ExAC
gnomAD
rs772393224 2067 C>S No ExAC
gnomAD
rs1775506273 2067 C>Y No TOPMed
rs2128549806 2068 V>I No Ensembl
rs2128549806 2068 V>L No Ensembl
rs1775505857 2069 Y>* No TOPMed
rs1190220728 2069 Y>C No gnomAD
rs1190220728 2069 Y>F No gnomAD
rs2128549802 2069 Y>N No Ensembl
rs1190220728 2069 Y>S No gnomAD
rs1488589803 2070 L>* No gnomAD
rs1488589803 2070 L>S No gnomAD
rs2128549787 2071 E>A No Ensembl
rs2128549782 2071 E>D No Ensembl
rs139881304 2072 R>G No 1000Genomes
ESP
ExAC
gnomAD
rs779401784 2072 R>L No ExAC
TOPMed
gnomAD
rs779401784 2072 R>P No ExAC
TOPMed
gnomAD
rs779401784 2072 R>Q No ExAC
TOPMed
gnomAD
rs139881304 2072 R>W No 1000Genomes
ESP
ExAC
gnomAD
rs2128549760 2073 M>I No Ensembl
rs1775505126 2073 M>K No Ensembl
rs2128549766 2073 M>L No Ensembl
rs1775505126 2073 M>R No Ensembl
rs2128549756 2074 H>D No Ensembl
rs1001750135 2074 H>L No Ensembl
rs1001750135 2074 H>P No Ensembl
rs1001750135 2074 H>R No Ensembl
rs2128549756 2074 H>Y No Ensembl
rs868183177 2075 F>L No Ensembl
rs1340913308 2077 H>L No gnomAD
rs2128549737 2077 H>Q No Ensembl
rs1340913308 2077 H>R No gnomAD
rs2128549735 2078 R>G No Ensembl
rs528528184 2078 R>K No 1000Genomes
rs528528184 2078 R>M No 1000Genomes
rs147454452 2078 R>S No ESP
ExAC
TOPMed
gnomAD
rs528528184 2078 R>T No 1000Genomes
COSM6172044
COSM6172045
2078 R>W Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128548761 2079 D>E No Ensembl
rs774960557 2079 D>G No ExAC
TOPMed
gnomAD
rs1416655668 2079 D>H No Ensembl
COSM1697815
rs1416655668
COSM1697816
2079 D>N skin [Cosmic] No cosmic curated
Ensembl
rs774960557 2079 D>V No ExAC
TOPMed
gnomAD
rs1416655668 2079 D>Y No Ensembl
rs2128548756 2080 L>P No Ensembl
rs2128548756 2080 L>Q No Ensembl
rs1166389096 2081 A>P No TOPMed
gnomAD
rs1166389096 2081 A>S No TOPMed
gnomAD
COSM1072514
COSM1072512
COSM4867723
rs1166389096
2081 A>T Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs2128548732 2082 A>D No Ensembl
rs2128548732 2082 A>G No Ensembl
rs2128548737 2082 A>P No Ensembl
rs2128548737 2082 A>T No Ensembl
TCGA novel
rs2128548732
2082 A>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs552183 2083 R>G No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs749448229 2083 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs1775438250 2084 N>D No Ensembl
rs2128548710 2084 N>I No Ensembl
rs2128548703 2084 N>K No Ensembl
rs1775438250 2084 N>Y No Ensembl
rs1775437483 2085 C>F No Ensembl
rs770087460 2085 C>G No ExAC
gnomAD
rs770087460 2085 C>R No ExAC
gnomAD
rs770087460 2085 C>S No ExAC
gnomAD
rs1775437483 2085 C>S No Ensembl
rs1775437272 2085 C>W No TOPMed
rs1775437483 2085 C>Y No Ensembl
rs1775437042 2086 L>F No TOPMed
rs2128548686 2086 L>H No Ensembl
rs1775437042 2086 L>I No TOPMed
rs1775437042 2086 L>V No TOPMed
rs779674711 2087 V>A No ExAC
gnomAD
rs779674711 2087 V>D No ExAC
gnomAD
rs748425390 2087 V>F No ExAC
TOPMed
gnomAD
rs779674711 2087 V>G No ExAC
gnomAD
rs748425390 2087 V>I No ExAC
TOPMed
gnomAD
rs748425390 2087 V>L No ExAC
TOPMed
gnomAD
rs2128548665
COSM3619819
COSM3619818
2088 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2128548667 2088 S>P No Ensembl
rs2128548652 2089 V>E No Ensembl
rs2128548652 2089 V>G No Ensembl
rs750308356 2089 V>L No ExAC
TOPMed
gnomAD
COSM4722425
COSM4722426
rs750308356
2089 V>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2128548644 2090 K>* No Ensembl
rs2128548638 2090 K>I No Ensembl
rs2128548626 2091 D>E No Ensembl
rs778877637 2091 D>G No ExAC
TOPMed
gnomAD
rs1775435625 2091 D>H No gnomAD
rs1775435625 2091 D>N No gnomAD
rs778877637 2091 D>V No ExAC
TOPMed
gnomAD
rs1775435625 2091 D>Y No gnomAD
rs2128548617 2092 Y>* No Ensembl
COSM1647883
COSM739515
2092 Y>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128548620 2092 Y>F No Ensembl
rs2128548622 2092 Y>N No Ensembl
rs2128548610 2093 T>A No Ensembl
rs1775435080 2093 T>I No TOPMed
gnomAD
rs1775435080 2093 T>N No TOPMed
gnomAD
rs1775435080 2093 T>S No TOPMed
gnomAD
rs2128548610 2093 T>S No Ensembl
rs1225166807 2094 S>G No gnomAD
rs2128548594 2094 S>I No Ensembl
rs2128548594 2094 S>N No Ensembl
rs2128548589 2094 S>R No Ensembl
rs2128548594 2094 S>T No Ensembl
rs2128548582 2095 P>L No Ensembl
rs2128548582 2095 P>R No Ensembl
rs1775434448 2095 P>S No TOPMed
rs371087942 2096 R>G No ESP
ExAC
TOPMed
gnomAD
rs1022614558 2096 R>L No TOPMed
gnomAD
rs1022614558 2096 R>P No TOPMed
gnomAD
COSM3857775
COSM3857776
rs1022614558
2096 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
TOPMed
gnomAD
rs371087942
COSM4871660
COSM1072511
COSM1072509
2096 R>W Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs753277535 2097 I>K No ExAC
gnomAD
rs2128548563 2097 I>L No Ensembl
rs2128548550 2097 I>M No Ensembl
rs753277535 2097 I>R No ExAC
gnomAD
rs753277535 2097 I>T No ExAC
gnomAD
rs2128548563 2097 I>V No Ensembl
rs2128548536 2098 V>A No Ensembl
rs2128548536 2098 V>E No Ensembl
rs2128548536 2098 V>G No Ensembl
rs2128548542 2098 V>L No Ensembl
rs2128548542 2098 V>M No Ensembl
rs1231534643 2099 K>N No TOPMed
gnomAD
rs1775433158 2100 I>F No Ensembl
rs763607384 2100 I>M No ExAC
gnomAD
rs1775432981 2100 I>N No Ensembl
rs1775432981 2100 I>S No Ensembl
rs1775432981 2100 I>T No Ensembl
rs2128548505 2101 G>* No Ensembl
rs2128548497 2101 G>A No Ensembl
rs2128548497 2101 G>E No Ensembl
rs2128548505 2101 G>R No Ensembl
rs2128548497 2101 G>V No Ensembl
rs760267537 2102 D>E No ExAC
TOPMed
gnomAD
rs2128548484 2102 D>G No Ensembl
rs2128548486 2102 D>H No Ensembl
rs2128548486 2102 D>N No Ensembl
rs2128548484 2102 D>V No Ensembl
rs2128548471 2103 F>I No Ensembl
rs2128548467 2103 F>S No Ensembl
rs1775432135 2104 G>* No gnomAD
rs1681569421 2104 G>A No gnomAD
rs1681569421 2104 G>E No gnomAD
rs1775432135 2104 G>R No gnomAD
rs1681569421 2104 G>V No gnomAD
rs1322389853 2105 L>F No Ensembl
rs1012650170 2105 L>H No Ensembl
rs1012650170 2105 L>P No Ensembl
rs1322389853 2105 L>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA
rs2128548421 2106 A>D No Ensembl
rs2128548421 2106 A>G No Ensembl
rs150262256 2106 A>P No ESP
ExAC
TOPMed
gnomAD
rs150262256 2106 A>S No ESP
ExAC
TOPMed
gnomAD
rs150262256
COSM76280
COSM4947626
2106 A>T ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2128548421 2106 A>V No Ensembl
rs1775430553 2107 R>G No TOPMed
rs2128548398 2107 R>K No Ensembl
rs2128548393 2107 R>S No Ensembl
rs2128548398 2107 R>T No Ensembl
rs2128548373 2108 D>E No Ensembl
rs563507203 2108 D>G No 1000Genomes
ExAC
TOPMed
gnomAD
rs2128548388 2108 D>H No Ensembl
rs2128548388 2108 D>N No Ensembl
rs563507203 2108 D>V No 1000Genomes
ExAC
TOPMed
gnomAD
rs2128548388 2108 D>Y No Ensembl
rs2128548358 2109 I>M No Ensembl
rs2128548363 2109 I>N No Ensembl
rs1582578695 2109 I>V No Ensembl
rs2128548346 2110 Y>* No Ensembl
rs763571645 2110 Y>C No ExAC
TOPMed
gnomAD
rs2128548355
TCGA novel
2110 Y>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs763571645 2110 Y>S No ExAC
TOPMed
gnomAD
rs2128548344 2111 K>* No Ensembl
rs2128548340 2111 K>I No Ensembl
rs773381586 2111 K>N No ExAC
gnomAD
rs770025086 2112 N>D No ExAC
TOPMed
gnomAD
rs2128548323 2112 N>I No Ensembl
rs770025086 2112 N>Y No ExAC
TOPMed
gnomAD
rs2128548313 2113 D>E No Ensembl
rs2128548316 2113 D>H No Ensembl
rs2128548316 2113 D>N No Ensembl
rs748287694 2113 D>V No ExAC
gnomAD
rs2128548309 2114 Y>* No Ensembl
rs201206180 2114 Y>C No 1000Genomes
ExAC
gnomAD
rs745741484 2115 Y>* No ExAC
gnomAD
rs150994413 2115 Y>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs150994413 2115 Y>F No 1000Genomes
ExAC
TOPMed
gnomAD
rs2128548300 2115 Y>H No Ensembl
rs2128548300 2115 Y>N No Ensembl
rs2128548291 2116 R>* No Ensembl
rs2128548287 2116 R>I No Ensembl
rs2128548283 2116 R>S No Ensembl
rs2128548287 2116 R>T No Ensembl
rs1484526625 2117 K>Q No TOPMed
rs778683218 2118 R>S No ExAC
gnomAD
rs757128233 2119 G>E No ExAC
gnomAD
rs2128548262 2119 G>R No Ensembl
rs2128548262 2119 G>W No Ensembl
rs2128548241 2120 E>D No Ensembl
rs2128548245 2120 E>G No Ensembl
rs2128548249 2120 E>K No Ensembl
rs2128548249 2120 E>Q No Ensembl
rs2128548245 2120 E>V No Ensembl
rs749246490 2121 G>A No ExAC
gnomAD
rs1305422933 2121 G>C No gnomAD
rs749246490 2121 G>D No ExAC
gnomAD
rs1305422933 2121 G>S No gnomAD
rs749246490 2121 G>V No ExAC
gnomAD
rs2128548215 2122 L>Q No Ensembl
rs2128548220 2122 L>V No Ensembl
rs886941681 2123 L>F No Ensembl
rs2128548191 2123 L>H No Ensembl
rs2128548191 2123 L>P No Ensembl
rs886941681 2123 L>V No Ensembl
rs2128548183 2124 P>A No Ensembl
rs752266755 2124 P>L No ExAC
gnomAD
rs2128548183 2124 P>S No Ensembl
rs2128548183 2124 P>T No Ensembl
rs2128548165 2125 V>A No Ensembl
rs2128548165 2125 V>D No Ensembl
rs1355678032 2125 V>F No TOPMed
gnomAD
rs2128548165 2125 V>G No Ensembl
COSM139666
rs1355678032
2125 V>I skin [Cosmic] No cosmic curated
TOPMed
gnomAD
rs1355678032 2125 V>L No TOPMed
gnomAD
rs138376257
COSM1559724
COSM1559725
2126 R>G central_nervous_system [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199882276 2126 R>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs199882276 2126 R>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
RCV000880789
rs199882276
2126 R>Q No ClinVar
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs138376257
COSM227019
COSM227020
2126 R>W skin [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128548137
COSM1697814
COSM1697813
2127 W>* skin [Cosmic] No cosmic curated
Ensembl
COSM1697814
rs2128548131
COSM1697813
2127 W>* skin [Cosmic] No cosmic curated
Ensembl
rs2128548131 2127 W>C No Ensembl
rs1321959715 2127 W>G No gnomAD
rs1321959715 2127 W>R No gnomAD
rs1775424027 2128 M>I No Ensembl
rs1775424227 2128 M>K No TOPMed
rs1775424227 2128 M>R No TOPMed
rs1402698762 2128 M>V No TOPMed
gnomAD
rs1775423828 2129 A>P No TOPMed
rs1775423828 2129 A>S No TOPMed
rs1775423828 2129 A>T No TOPMed
rs1297604319 2129 A>V No TOPMed
gnomAD
rs2128548104 2130 P>A No Ensembl
rs2128548088 2130 P>L No Ensembl
rs2128548088 2130 P>Q No Ensembl
rs2128548088 2130 P>R No Ensembl
rs2128548104 2130 P>S No Ensembl
rs2128548104 2130 P>T No Ensembl
COSM4893814
COSM4893815
2131 E>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128548084 2131 E>K No Ensembl
rs2128548084 2131 E>Q No Ensembl
rs2128548075 2132 S>C No Ensembl
rs2128548075 2132 S>G No Ensembl
rs773896715 2132 S>I No 1000Genomes
ExAC
TOPMed
gnomAD
COSM3619816
COSM3619817
rs773896715
2132 S>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
TOPMed
gnomAD
rs2128548061 2132 S>R No Ensembl
rs773896715 2132 S>T No 1000Genomes
ExAC
TOPMed
gnomAD
rs1582578243 2133 L>* No gnomAD
rs2128548046 2133 L>F No Ensembl
rs765386753 2133 L>M No ExAC
gnomAD
rs1582578243 2133 L>W No gnomAD
rs2128548033 2134 M>I No Ensembl
rs762013317 2134 M>K No ExAC
TOPMed
gnomAD
rs1775422675 2134 M>L No Ensembl
rs762013317 2134 M>T No ExAC
TOPMed
gnomAD
rs1775422675 2134 M>V No Ensembl
rs1163300111 2135 D>E No gnomAD
rs376507701 2135 D>G No ESP
ExAC
TOPMed
gnomAD
rs2128548027 2135 D>H No Ensembl
rs2128548027 2135 D>N No Ensembl
rs376507701 2135 D>V No ESP
ExAC
TOPMed
gnomAD
rs2128548027 2135 D>Y No Ensembl
COSM5902807
COSM5902806
rs1459053852
2136 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No gnomAD
NCI-TCGA Cosmic
NCI-TCGA
rs1158125322 2137 I>L No gnomAD
rs1305518433 2137 I>M No TOPMed
gnomAD
rs2128548007 2137 I>N No Ensembl
rs747208320 2138 F>I No ExAC
gnomAD
rs2128547984
COSM1440040
COSM1440041
2138 F>L large_intestine [Cosmic] No cosmic curated
Ensembl
COSM1440040
COSM1440041
rs747208320
2138 F>L large_intestine [Cosmic] No cosmic curated
ExAC
gnomAD
VAR_041457 2138 F>S a gastric adenocarcinoma sample; somatic mutation [UniProt] No UniProt
COSM1440043
COSM1440042
rs747208320
2138 F>V large_intestine [Cosmic] No cosmic curated
ExAC
gnomAD
rs2128547988 2138 F>Y No Ensembl
rs774083623 2140 T>A No ExAC
gnomAD
rs2128547966 2140 T>I No Ensembl
rs774083623 2140 T>P No ExAC
gnomAD
rs2128547966 2140 T>S No Ensembl
rs774083623 2140 T>S No ExAC
gnomAD
rs770739791 2141 Q>* No ExAC
gnomAD
COSM3857774
COSM3857773
2141 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128547957 2141 Q>L No Ensembl
rs2128547943 2142 S>C No Ensembl
rs2128547943 2142 S>F No Ensembl
rs2128547943 2142 S>Y No Ensembl
rs2128547925 2143 D>E No Ensembl
rs2128547932 2143 D>H No Ensembl
rs2128547932 2143 D>N No Ensembl
rs2128547927 2143 D>V No Ensembl
rs2128547932 2143 D>Y No Ensembl
rs2128547914 2144 V>A No Ensembl
rs2128547914 2144 V>E No Ensembl
rs749189360
COSM739516
COSM1647884
COSM739517
2144 V>I lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs749189360 2144 V>L No ExAC
gnomAD
rs2128546443 2145 W>* No Ensembl
rs755564042 2145 W>* No ExAC
TOPMed
gnomAD
rs2128546443 2145 W>C No Ensembl
rs2128547905 2145 W>R No Ensembl
rs2128546433 2146 S>C No Ensembl
rs2128546433 2146 S>F No Ensembl
rs760847633 2146 S>P No ExAC
gnomAD
rs760847633 2146 S>T No ExAC
gnomAD
rs2128546433 2146 S>Y No Ensembl
rs2128546427 2147 F>L No Ensembl
rs2128546417 2148 G>A No Ensembl
COSM5910528
COSM5910529
rs2128546417
2148 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2128546417 2148 G>V No Ensembl
rs2128546408 2149 I>F No Ensembl
rs1285782510 2149 I>N No gnomAD
rs1285782510 2149 I>S No gnomAD
rs1285782510 2149 I>T No gnomAD
rs2128546395 2150 L>Q No Ensembl
rs2128546382
COSM95206
2151 I>F lung [Cosmic] No cosmic curated
Ensembl
rs2128546380 2151 I>N No Ensembl
rs2128546382 2151 I>V No Ensembl
rs2128546357 2152 W>* No Ensembl
rs2128546364 2152 W>* No Ensembl
rs2128546357 2152 W>C No Ensembl
rs2128546364 2152 W>L No Ensembl
rs1310146010 2152 W>R No TOPMed
rs2128546364 2152 W>S No Ensembl
rs1775321457 2153 E>* No TOPMed
gnomAD
rs1775321187 2153 E>D No TOPMed
gnomAD
rs1775321457 2153 E>K No TOPMed
gnomAD
rs2128546344 2154 I>F No Ensembl
rs1278895252 2154 I>N No gnomAD
rs1278895252 2154 I>T No gnomAD
rs1346166157 2155 L>* No gnomAD
COSM3619814
COSM3619815
2155 L>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs775729194 2155 L>I No ExAC
gnomAD
rs1346166157 2155 L>S No gnomAD
rs2128546313 2156 T>I No Ensembl
rs2128546319 2156 T>S No Ensembl
rs2128546313 2156 T>S No Ensembl
rs2128546308 2157 L>F No Ensembl
rs1775320283 2157 L>H No TOPMed
rs1775320283 2157 L>P No TOPMed
rs1775320283 2157 L>R No TOPMed
rs2128546308 2157 L>V No Ensembl
rs2128546279 2158 G>A No Ensembl
rs2128546285 2158 G>C No Ensembl
rs2128546279 2158 G>D No Ensembl
rs2128546285 2158 G>R No Ensembl
rs2128546285
COSM3783928
COSM3783927
2158 G>S Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs2128546279 2158 G>V No Ensembl
rs770688968 2159 H>D No ExAC
TOPMed
gnomAD
rs749138188 2159 H>L No ExAC
gnomAD
rs770688968 2159 H>N No ExAC
TOPMed
gnomAD
rs1775319690 2159 H>Q No Ensembl
rs749138188 2159 H>R No ExAC
gnomAD
rs770688968 2159 H>Y No ExAC
TOPMed
gnomAD
rs2128546253 2160 Q>* No Ensembl
rs2128546253 2160 Q>E No Ensembl
rs2128546244 2160 Q>H No Ensembl
rs2128546250 2160 Q>L No Ensembl
rs2128546240 2161 P>A No Ensembl
rs772998388 2161 P>H No ExAC
gnomAD
rs772998388 2161 P>L No ExAC
gnomAD
rs772998388 2161 P>R No ExAC
gnomAD
rs2128546240 2161 P>S No Ensembl
rs748058744 2162 Y>D No ExAC
gnomAD
rs748058744 2162 Y>H No ExAC
gnomAD
rs748058744 2162 Y>N No ExAC
gnomAD
rs2128546205 2163 P>A No Ensembl
TCGA novel
rs2128546196
2163 P>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2128546196 2163 P>Q No Ensembl
rs2128546196 2163 P>R No Ensembl
rs2128546205 2163 P>S No Ensembl
rs2128546205 2163 P>T No Ensembl
rs2128546187 2164 A>D No Ensembl
rs2128546187 2164 A>G No Ensembl
rs1740235982 2164 A>P No TOPMed
gnomAD
rs1740235982 2164 A>S No TOPMed
gnomAD
rs1740235982 2164 A>T No TOPMed
gnomAD
rs2128546187 2164 A>V No Ensembl
rs780713592 2165 H>D No ExAC
gnomAD
rs2128546174 2165 H>L No Ensembl
rs780713592 2165 H>N No ExAC
gnomAD
rs2128546168 2165 H>Q No Ensembl
rs780713592 2165 H>Y No ExAC
gnomAD
rs2128546164 2166 S>A No Ensembl
rs976517290 2166 S>C No Ensembl
rs976517290 2166 S>F No Ensembl
rs976517290 2166 S>Y No Ensembl
rs2128546150 2167 N>I No Ensembl
rs374358403 2167 N>K No ESP
ExAC
TOPMed
gnomAD
rs2128546150 2167 N>T No Ensembl
rs746642345 2168 L>F No ExAC
gnomAD
rs1775317741 2168 L>H No gnomAD
rs746642345 2168 L>I No ExAC
gnomAD
rs1775317741 2168 L>P No gnomAD
rs746642345 2168 L>V No ExAC
gnomAD
rs2128546102 2169 D>G No Ensembl
rs2128546111 2169 D>H No Ensembl
rs2128546111 2169 D>N No Ensembl
rs2128546102 2169 D>V No Ensembl
rs2128546111 2169 D>Y No Ensembl
rs2128546081 2170 V>E No Ensembl
rs2128546089 2170 V>L No Ensembl
rs2128546089 2170 V>M No Ensembl
rs2128546062 2171 L>* No Ensembl
rs2128546059 2171 L>F No Ensembl
rs2128546070 2171 L>I No Ensembl
rs2128546062 2171 L>S No Ensembl
rs758832763 2172 N>H No ExAC
gnomAD
rs750748780 2172 N>I No ExAC
gnomAD
rs2128546047 2172 N>K No Ensembl
rs750748780 2172 N>S No ExAC
gnomAD
rs758832763 2172 N>Y No ExAC
gnomAD
rs2128546031 2173 Y>* No Ensembl
rs377356164 2173 Y>C No ESP
ExAC
TOPMed
gnomAD
rs377356164 2173 Y>F No ESP
ExAC
TOPMed
gnomAD
rs182529844 2173 Y>N No 1000Genomes
ExAC
TOPMed
gnomAD
rs377356164 2173 Y>S No ESP
ExAC
TOPMed
gnomAD
rs754329824 2174 V>E No ExAC
gnomAD
rs2128546022 2174 V>L No Ensembl
rs2128546022 2174 V>M No Ensembl
rs764203432 2175 Q>* No ExAC
gnomAD
rs764203432 2175 Q>E No ExAC
gnomAD
rs764203432 2175 Q>K No ExAC
gnomAD
rs1440090931 2176 T>I No TOPMed
rs2128546012 2176 T>P No Ensembl
rs1440090931 2176 T>R No TOPMed
rs1775315228 2177 G>A No Ensembl
rs1775315228 2177 G>E No Ensembl
rs2128546003 2177 G>R No Ensembl
rs1775315228 2177 G>V No Ensembl
rs2128545990 2178 G>A No Ensembl
rs2128545990 2178 G>E No Ensembl
rs2128545994 2178 G>R No Ensembl
rs2128545990 2178 G>V No Ensembl
rs1775315045 2179 R>I No TOPMed
rs1775315045 2179 R>K No TOPMed
rs2128545976 2179 R>S No Ensembl
rs1775315045 2179 R>T No TOPMed
rs2128545972 2180 L>M No Ensembl
rs2128545969 2180 L>Q No Ensembl
rs2128545969 2180 L>R No Ensembl
rs2128545972 2180 L>V No Ensembl
rs1281192538 2181 E>D No gnomAD
COSM3619812
COSM3619813
rs2128545962
2181 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2128545962 2181 E>Q No Ensembl
rs760792633 2182 P>A No ExAC
gnomAD
COSM4992398
rs760792633
COSM4992399
2182 P>S Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
gnomAD
rs760792633 2182 P>T No ExAC
gnomAD
rs767792683 2183 P>A No ExAC
gnomAD
rs2128545939 2183 P>L No Ensembl
rs2128545939 2183 P>Q No Ensembl
rs2128545939 2183 P>R No Ensembl
rs767792683 2183 P>S No ExAC
gnomAD
rs767792683 2183 P>T No ExAC
gnomAD
rs1224719700 2184 R>* No TOPMed
gnomAD
COSM169762
rs2128545926
COSM169763
COSM1672706
2184 R>I Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
COSM3429909
COSM3429910
rs2128545926
2184 R>K Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
Ensembl
rs2128545926 2184 R>T No Ensembl
rs2128545921 2185 N>D No Ensembl
rs2128545918 2185 N>I No Ensembl
rs1018137213 2185 N>K No TOPMed
gnomAD
rs2128545904 2186 C>* No Ensembl
rs759768879 2186 C>F No ExAC
gnomAD
rs1775313296 2186 C>S No TOPMed
gnomAD
rs1775312906 2187 P>A No gnomAD
rs1775312906 2187 P>S No gnomAD
COSM314883
COSM314884
rs1775312906
2187 P>T lung [Cosmic] No cosmic curated
gnomAD
COSM1650497
COSM6104793
COSM594218
rs2128545883
COSM6104792
COSM594217
2188 D>G lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
Ensembl
COSM351311
COSM351312
rs1367476083
2188 D>H lung [Cosmic] No cosmic curated
gnomAD
rs1367476083 2188 D>N No gnomAD
rs2128545883 2188 D>V No Ensembl
rs2128545874 2189 D>G No Ensembl
rs2128545878 2189 D>H No Ensembl
rs2128545878
COSM1697812
COSM1697811
2189 D>N skin [Cosmic] No cosmic curated
Ensembl
rs2128545874 2189 D>V No Ensembl
rs2128545865 2190 L>Q No Ensembl
rs2128545870 2190 L>V No Ensembl
rs2128537293 2191 W>* No Ensembl
rs776629258 2191 W>* No ExAC
TOPMed
gnomAD
rs2128537293 2191 W>C No Ensembl
rs776629258 2191 W>L No ExAC
TOPMed
gnomAD
rs776629258 2191 W>S No ExAC
TOPMed
gnomAD
rs2128537291 2192 N>I No Ensembl
rs2128537287 2192 N>K No Ensembl
rs2128537281 2193 L>F No Ensembl
rs1213243422 2194 M>I No TOPMed
gnomAD
rs2128537271 2194 M>K No Ensembl
rs2128537271 2194 M>T No Ensembl
rs2128537276 2194 M>V No Ensembl
rs768649987 2195 T>A No ExAC
TOPMed
gnomAD
rs140284927 2195 T>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs140284927 2195 T>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs768649987 2195 T>S No ExAC
TOPMed
gnomAD
rs2128537231 2196 Q>* No Ensembl
rs2128537231 2196 Q>E No Ensembl
rs2128537223 2196 Q>H No Ensembl
rs2128537217 2197 C>G No Ensembl
rs2128537217 2197 C>S No Ensembl
rs2128537211 2197 C>S No Ensembl
rs1459039958 2197 C>W No gnomAD
rs2128537211 2197 C>Y No Ensembl
rs775088466 2198 W>* No ExAC
gnomAD
rs2128537189 2198 W>* No Ensembl
rs2128537189 2198 W>C No Ensembl
rs2128537205 2198 W>G No Ensembl
rs2128537205 2198 W>R No Ensembl
rs775088466 2198 W>S No ExAC
gnomAD
rs1164131685 2200 Q>* No TOPMed
gnomAD
rs1164131685 2200 Q>E No TOPMed
gnomAD
rs146680210 2200 Q>L No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146680210 2200 Q>P No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs146680210
COSM1319161
COSM1319162
2200 Q>R haematopoietic_and_lymphoid_tissue [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
COSM4785391
COSM1440038
2201 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128537151 2201 E>D No Ensembl
rs2128537161 2201 E>K No Ensembl
rs2128537161 2201 E>Q No Ensembl
rs2128537158 2201 E>V No Ensembl
rs745498493 2202 P>A No ExAC
TOPMed
gnomAD
rs1774688129 2202 P>H No Ensembl
rs1774688129 2202 P>L No Ensembl
rs1774688129 2202 P>R No Ensembl
rs745498493 2202 P>S No ExAC
TOPMed
gnomAD
rs745498493 2202 P>T No ExAC
TOPMed
gnomAD
rs1774687631 2203 D>E No TOPMed
rs556427413 2203 D>H No 1000Genomes
ExAC
TOPMed
gnomAD
VAR_041458
rs556427413
2203 D>N No UniProt
1000Genomes
ExAC
TOPMed
dbSNP
gnomAD
rs2128537110 2203 D>V No Ensembl
rs771313001 2204 Q>* No ExAC
TOPMed
gnomAD
rs771313001 2204 Q>E No ExAC
TOPMed
gnomAD
rs771313001 2204 Q>K No ExAC
TOPMed
gnomAD
rs144594219 2204 Q>L No ESP
ExAC
TOPMed
gnomAD
rs144594219 2204 Q>R No ESP
ExAC
TOPMed
gnomAD
rs2128537083 2205 R>* No Ensembl
rs145104466 2205 R>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs145104466 2205 R>K No ESP
ExAC
TOPMed
gnomAD
rs2128537068 2205 R>S No Ensembl
rs145104466 2205 R>T No ESP
ExAC
TOPMed
gnomAD
rs2128537063 2206 P>A No Ensembl
rs2128537056 2206 P>L No Ensembl
rs2128537056 2206 P>R No Ensembl
rs2128537063 2206 P>S No Ensembl
rs2128537063 2206 P>T No Ensembl
rs149949391 2207 T>A No ESP
ExAC
TOPMed
gnomAD
TCGA novel
rs2128537038
2207 T>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
COSM4160146
rs2128537038
COSM4160147
2207 T>S thyroid [Cosmic] No cosmic curated
Ensembl
COSM4160146
rs149949391
COSM4160147
2207 T>S thyroid [Cosmic] No cosmic curated
ESP
ExAC
TOPMed
gnomAD
rs1051601581 2208 F>C No TOPMed
gnomAD
rs2128537028 2208 F>L No Ensembl
rs2128537019 2209 H>D No Ensembl
rs748687432 2209 H>L No ExAC
TOPMed
gnomAD
rs2128537019
COSM4006105
COSM4006106
2209 H>N urinary_tract [Cosmic] No cosmic curated
Ensembl
rs748687432 2209 H>P No ExAC
TOPMed
gnomAD
rs538165958 2209 H>Q No 1000Genomes
ExAC
TOPMed
gnomAD
rs748687432 2209 H>R No ExAC
TOPMed
gnomAD
rs2128537019 2209 H>Y No Ensembl
COSM739519
COSM1647885
COSM739518
rs1278629013
2210 R>* lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
TOPMed
rs1278629013 2210 R>G No TOPMed
COSM1440036
COSM1440035
rs148104006
2210 R>I large_intestine [Cosmic] No cosmic curated
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148104006 2210 R>K No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs148104006 2210 R>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128536986 2211 I>N No Ensembl
rs2128536993 2211 I>V No Ensembl
rs866580908 2212 Q>* No TOPMed
gnomAD
rs866580908 2212 Q>E No TOPMed
gnomAD
rs1774684203 2212 Q>H No Ensembl
rs2128536970 2212 Q>L No Ensembl
rs2128536970 2212 Q>R No Ensembl
VAR_041459
rs75510639
2213 D>E No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs529038 2213 D>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
VAR_030655
rs529038
2213 D>N No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs2128536949 2213 D>V No Ensembl
rs529038 2213 D>Y No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128536938 2214 Q>* No Ensembl
rs2128536934 2214 Q>H No Ensembl
rs2128536938 2214 Q>K No Ensembl
rs1358712826 2215 L>F No gnomAD
rs1383744493 2215 L>H No TOPMed
gnomAD
rs1383744493 2215 L>P No TOPMed
gnomAD
rs1358712826 2215 L>V No gnomAD
COSM4504401
rs2128536920
COSM4504402
2216 Q>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2128536920 2216 Q>E No Ensembl
rs373160577 2216 Q>H No ESP
ExAC
TOPMed
gnomAD
rs2128536912 2216 Q>L No Ensembl
rs2128536912 2216 Q>R No Ensembl
rs1293220338 2217 L>* No gnomAD
rs2128536893 2217 L>F No Ensembl
rs993857429 2217 L>I No Ensembl
rs1293220338 2217 L>S No gnomAD
rs376903822 2218 F>L No ESP
TOPMed
gnomAD
rs2128536887 2218 F>Y No Ensembl
rs1351695625 2219 R>K No gnomAD
rs1351695625 2219 R>T No gnomAD
rs760646608 2220 N>I No ExAC
TOPMed
gnomAD
rs775605839 2220 N>K No ExAC
gnomAD
rs760646608 2220 N>S No ExAC
TOPMed
gnomAD
rs2128536858 2221 F>I No Ensembl
COSM6172046
COSM6172047
2222 F>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs759025806 2222 F>S No ExAC
TOPMed
gnomAD
rs767110496 2222 F>V No ExAC
gnomAD
rs759025806 2222 F>Y No ExAC
TOPMed
gnomAD
rs2128536843 2223 L>* No Ensembl
rs2128536837 2223 L>F No Ensembl
rs1475122880 2224 N>H No TOPMed
gnomAD
rs777946284 2224 N>I No Ensembl
TCGA novel 2224 N>K Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs777946284 2224 N>T No Ensembl
rs2128536824 2225 S>C No Ensembl
rs774048022 2225 S>I No ExAC
TOPMed
gnomAD
rs774048022 2225 S>N No ExAC
TOPMed
gnomAD
rs2128536813 2225 S>R No Ensembl
rs774048022 2225 S>T No ExAC
TOPMed
gnomAD
rs2128536799 2227 Y>* No Ensembl
rs565633598 2227 Y>C No 1000Genomes
ExAC
TOPMed
gnomAD
rs2128536805 2227 Y>N No Ensembl
rs529156 2228 K>* No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs529156 2228 K>E No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs529156
VAR_041460
2228 K>Q No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
TCGA novel 2228 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs619203
VAR_030656
2229 S>C No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs619203 2229 S>F No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128536782 2229 S>T No Ensembl
rs619203 2229 S>Y No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128536751 2230 R>I No Ensembl
COSM3619811
COSM3619810
rs2128536751
2230 R>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
COSM4844841
rs2128536751
COSM4844840
2230 R>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs1341332039 2231 D>E No TOPMed
gnomAD
rs2128536742 2231 D>H No Ensembl
rs2128536742 2231 D>N No Ensembl
rs2128536742 2231 D>Y No Ensembl
rs1275344272
COSM4844545
COSM4844544
2232 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs2128536717 2232 E>D No Ensembl
COSM1440033
COSM4783153
COSM1440034
rs1774677457
2232 E>G Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
TOPMed
gnomAD
rs1275344272
RCV001728069
2232 E>K No ClinVar
dbSNP
gnomAD
rs1275344272 2232 E>Q No gnomAD
rs1774677457 2232 E>V No TOPMed
gnomAD
rs748632361 2233 A>E No ExAC
gnomAD
rs748632361 2233 A>G No ExAC
gnomAD
rs1385257970 2233 A>P No TOPMed
gnomAD
rs1385257970 2233 A>S No TOPMed
gnomAD
rs1385257970 2233 A>T No TOPMed
gnomAD
rs748632361 2233 A>V No ExAC
gnomAD
rs1053611030 2234 N>D No TOPMed
gnomAD
COSM450397
COSM1224150
COSM1224151
rs2128536688
COSM450396
COSM4814528
2234 N>K Variant assessed as Somatic; MODERATE impact. large_intestine breast [NCI-TCGA, Cosmic] No cosmic curated
Ensembl
NCI-TCGA Cosmic
rs2128536699 2234 N>T No Ensembl
rs1053611030 2234 N>Y No TOPMed
gnomAD
rs781709699 2235 N>I No ExAC
TOPMed
gnomAD
rs2128536673 2235 N>K No Ensembl
rs781709699 2235 N>S No ExAC
TOPMed
gnomAD
rs781709699 2235 N>T No ExAC
TOPMed
gnomAD
rs2128536684 2235 N>Y No Ensembl
rs2128536671 2236 S>C No Ensembl
rs368902897 2236 S>N No ESP
ExAC
TOPMed
gnomAD
rs746997621 2236 S>R No ExAC
TOPMed
gnomAD
rs368902897 2236 S>T No ESP
ExAC
TOPMed
gnomAD
rs2128536656 2237 G>* No Ensembl
rs564889461 2237 G>A No 1000Genomes
ExAC
gnomAD
rs564889461
COSM3619809
COSM3619808
2237 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs2128536656 2237 G>R No Ensembl
rs2128536646 2238 V>A No Ensembl
rs2128536646 2238 V>D No Ensembl
rs2128536651 2238 V>L No Ensembl
rs2128536632 2239 I>K No Ensembl
rs2128536636 2239 I>L No Ensembl
rs2128536623 2239 I>M No Ensembl
rs2128536636 2239 I>V No Ensembl
VAR_030657
rs210968
2240 N>K No UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
COSM3619807
rs2128536614
COSM3619806
2241 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2128536614 2241 E>Q No Ensembl
rs1774675235
COSM3619805
COSM3619804
2242 S>C Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
TOPMed
rs1774675235 2242 S>G No TOPMed
rs1310399838 2242 S>R No gnomAD
rs750686582 2242 S>T No ExAC
TOPMed
gnomAD
rs2128536594 2243 F>L No Ensembl
rs2128536601 2243 F>Y No Ensembl
rs1466970576 2244 E>D No Ensembl
rs1774674564 2244 E>Q No TOPMed
gnomAD
rs148710046 2245 G>A No ESP
ExAC
gnomAD
rs148710046 2245 G>D No ESP
ExAC
gnomAD
rs142264513 2245 G>S No 1000Genomes
ESP
TOPMed
gnomAD
TCGA novel
rs148710046
2245 G>V Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
ESP
ExAC
gnomAD
rs1582513438 2246 E>D No Ensembl
rs1412107750 2246 E>K No TOPMed
gnomAD
rs1412107750 2246 E>Q No TOPMed
gnomAD
rs2128521408 2247 D>E No Ensembl
rs2128521409 2247 D>G No Ensembl
rs2128521409 2247 D>V No Ensembl
COSM1072505
COSM4866554
2247 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128521397 2248 G>A No Ensembl
rs2128521397 2248 G>D No Ensembl
rs2128521404 2248 G>R No Ensembl
rs2128521404 2248 G>S No Ensembl
rs2128521397 2248 G>V No Ensembl
rs2128521382 2249 D>E No Ensembl
rs369184938 2249 D>H No ESP
ExAC
TOPMed
gnomAD
COSM1072502
rs369184938
COSM1072500
COSM4868878
2249 D>N Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] No cosmic curated
NCI-TCGA Cosmic
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2128521387 2249 D>V No Ensembl
rs369184938 2249 D>Y No ESP
ExAC
TOPMed
gnomAD
rs1304088293 2250 V>A No TOPMed
gnomAD
rs1304088293 2250 V>E No TOPMed
gnomAD
rs1304088293 2250 V>G No TOPMed
gnomAD
rs2128521376 2250 V>L No Ensembl
rs2128521376 2250 V>M No Ensembl
rs2128521367 2251 I>F No Ensembl
rs2128521367 2251 I>V No Ensembl
rs1200820127 2252 C>* No gnomAD
rs779954823 2252 C>F No ExAC
TOPMed
gnomAD
rs779954823 2252 C>S No ExAC
TOPMed
gnomAD
rs2128521361 2252 C>S No Ensembl
rs1200820127 2252 C>W No gnomAD
rs779954823 2252 C>Y No ExAC
TOPMed
gnomAD
rs2128521346 2253 L>* No Ensembl
rs2128521342 2254 N>D No Ensembl
rs772230848 2254 N>I No ExAC
gnomAD
rs2128521336 2254 N>K No Ensembl
rs772230848 2254 N>S No ExAC
gnomAD
rs2128521342 2254 N>Y No Ensembl
rs538891848 2255 S>* No 1000Genomes
ExAC
TOPMed
gnomAD
rs538891848 2255 S>L No 1000Genomes
ExAC
TOPMed
gnomAD
rs547573917 2255 S>P No 1000Genomes
ExAC
TOPMed
gnomAD
rs2128521319 2256 D>E No Ensembl
rs2128521324 2256 D>H No Ensembl
rs2128521324 2256 D>N No Ensembl
rs755967485 2256 D>V No ExAC
gnomAD
rs2128521324 2256 D>Y No Ensembl
rs754820794 2257 D>E No ExAC
TOPMed
gnomAD
rs375010729 2257 D>G No ESP
ExAC
TOPMed
gnomAD
rs144393305 2257 D>H No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs144393305 2257 D>N No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs375010729 2257 D>V No ESP
ExAC
TOPMed
gnomAD
rs144393305 2257 D>Y No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs954647191 2258 I>L No TOPMed
gnomAD
rs751557733 2258 I>T No ExAC
TOPMed
gnomAD
rs954647191 2258 I>V No TOPMed
gnomAD
rs2128521294 2259 M>I No Ensembl
rs2128521297 2259 M>K No Ensembl
rs1195270053 2260 P>A No Ensembl
rs2128521281 2260 P>L No Ensembl
rs2128521281 2260 P>Q No Ensembl
rs2128521281 2260 P>R No Ensembl
rs1195270053
COSM1072499
COSM1072497
COSM4139066
2260 P>S ovary Variant assessed as Somatic; MODERATE impact. endometrium [Cosmic, NCI-TCGA] No cosmic curated
NCI-TCGA Cosmic
Ensembl
rs1195270053 2260 P>T No Ensembl
rs552282840 2261 V>D No 1000Genomes
rs371313465 2261 V>F No ESP
ExAC
TOPMed
gnomAD
rs371313465 2261 V>I No ESP
ExAC
TOPMed
gnomAD
rs371313465 2261 V>L No ESP
ExAC
TOPMed
gnomAD
rs2128521265 2262 A>G No Ensembl
rs2128521268 2262 A>P No Ensembl
rs2128521268 2262 A>S No Ensembl
rs2128521265 2262 A>V No Ensembl
rs2128521250 2263 L>* No Ensembl
rs2128521253 2263 L>I No Ensembl
COSM3619802
COSM3619803
rs761470868
2264 M>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
gnomAD
NCI-TCGA Cosmic
NCI-TCGA
rs764807682 2264 M>K No ExAC
TOPMed
rs750075965 2264 M>L No ExAC
gnomAD
rs764807682 2264 M>T No ExAC
TOPMed
rs201673653 2265 E>* No ExAC
TOPMed
gnomAD
rs149630222 2265 E>D No ESP
ExAC
TOPMed
gnomAD
rs201673653 2265 E>K No ExAC
TOPMed
gnomAD
rs201673653 2265 E>Q No ExAC
TOPMed
gnomAD
rs781588795 2266 T>M Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
rs2128521226 2266 T>S No Ensembl
rs2128521216 2267 K>M No Ensembl
rs138446817 2267 K>N No ESP
ExAC
TOPMed
gnomAD
rs2128521216 2267 K>R No Ensembl
rs1187748126 2268 N>I No gnomAD
rs746010215 2268 N>K No ExAC
gnomAD
rs1187748126
COSM3619800
COSM3619801
2268 N>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs2128521214 2268 N>Y No Ensembl
rs202153378
COSM4166710
COSM4166711
2269 R>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
ExAC
NCI-TCGA
TOPMed
gnomAD
rs202153378 2269 R>G No ExAC
TOPMed
gnomAD
rs771217753 2269 R>L No ExAC
TOPMed
gnomAD
rs771217753 2269 R>P No ExAC
TOPMed
gnomAD
rs771217753 2269 R>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
TOPMed
gnomAD
COSM371982 2270 E>* Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1355743227 2270 E>D No gnomAD
rs2128521196 2270 E>G No Ensembl
COSM249317
COSM249318
rs1302341778
2270 E>K kidney [Cosmic] No cosmic curated
TOPMed
rs1302341778 2270 E>Q No TOPMed
rs2128521196 2270 E>V No Ensembl
rs749542060 2271 G>A No ExAC
TOPMed
gnomAD
COSM229499
rs749542060
COSM229500
2271 G>E skin [Cosmic] No cosmic curated
ExAC
TOPMed
gnomAD
rs1773608412
COSM3920635
COSM3920636
2271 G>R Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No TOPMed
NCI-TCGA Cosmic
rs749542060 2271 G>V No ExAC
TOPMed
gnomAD
rs1773608412 2271 G>W No TOPMed
rs2128521170 2272 L>* No Ensembl
rs2128521168 2272 L>F No Ensembl
rs1747701150 2272 L>I No TOPMed
rs2128521170 2272 L>S No Ensembl
rs1747701150 2272 L>V No TOPMed
rs2128521166 2273 N>D No Ensembl
rs1773607883 2273 N>I No Ensembl
rs1773607883 2273 N>S No Ensembl
rs754854156 2274 Y>* No ExAC
gnomAD
rs780819532 2274 Y>C No ExAC
gnomAD
rs1773607698 2274 Y>H No TOPMed
rs1773607698 2274 Y>N No TOPMed
rs2128521155 2275 M>I No Ensembl
rs751439620 2275 M>K No ExAC
gnomAD
TCGA novel 2275 M>L Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
rs751439620 2275 M>T No ExAC
gnomAD
TCGA novel
rs1773606797
2276 V>I Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
TOPMed
rs1773606797 2276 V>L No TOPMed
rs1406518415 2277 L>F No TOPMed
gnomAD
rs2128521144 2277 L>H No Ensembl
rs1406518415 2277 L>I No TOPMed
gnomAD
rs1406518415 2277 L>V No TOPMed
gnomAD
rs958426252 2278 A>D No Ensembl
rs1297293945 2278 A>P No gnomAD
rs1297293945 2278 A>S No gnomAD
rs1297293945 2278 A>T No gnomAD
rs374450773 2279 T>A No ESP
TOPMed
gnomAD
rs183984056 2279 T>I No 1000Genomes
ExAC
TOPMed
gnomAD
rs374450773 2279 T>P No ESP
TOPMed
gnomAD
rs183984056 2279 T>R No 1000Genomes
ExAC
TOPMed
gnomAD
rs374450773 2279 T>S No ESP
TOPMed
gnomAD
rs1319948197 2280 E>* No gnomAD
rs2128521103 2280 E>D No Ensembl
rs1319948197 2280 E>K No gnomAD
rs1319948197 2280 E>Q No gnomAD
rs2128521104 2280 E>V No Ensembl
rs2128521092 2281 C>* No Ensembl
rs758340327 2281 C>S No ExAC
gnomAD
rs2128521092 2281 C>W No Ensembl
rs758340327 2281 C>Y No ExAC
gnomAD
rs41291918 2282 G>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128521091 2282 G>C No Ensembl
rs41291918 2282 G>D No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128521091 2282 G>R No Ensembl
rs2128521091 2282 G>S No Ensembl
rs41291918 2282 G>V No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128521082 2283 Q>* No Ensembl
rs2128521082 2283 Q>E No Ensembl
rs1299949449 2283 Q>H No gnomAD
rs2128521082 2283 Q>K No Ensembl
rs1164075306 2283 Q>R No gnomAD
rs764751833 2284 G>A No ExAC
TOPMed
gnomAD
rs2128521066 2284 G>C No Ensembl
COSM284671
COSM5438007
rs764751833
COSM284672
2284 G>D Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
TOPMed
gnomAD
rs2128521066 2284 G>R No Ensembl
rs2128521066 2284 G>S No Ensembl
rs764751833 2284 G>V No ExAC
TOPMed
gnomAD
rs1442895655 2285 E>* No gnomAD
rs2128521050 2285 E>D No Ensembl
rs1442895655 2285 E>K No gnomAD
rs1442895655 2285 E>Q No gnomAD
rs2128521046 2286 E>K No Ensembl
rs2128521046 2286 E>Q No Ensembl
rs2128521038 2286 E>V No Ensembl
rs2128521036 2287 K>R No Ensembl
COSM1264502 2287 K>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs1306014510 2288 S>C No TOPMed
gnomAD
rs1306014510 2288 S>F No TOPMed
gnomAD
rs1167721609 2288 S>P No gnomAD
rs1167721609 2288 S>T No gnomAD
rs1306014510 2288 S>Y No TOPMed
gnomAD
rs2128521026 2289 E>* No Ensembl
rs2128521014 2289 E>D No Ensembl
rs2128521022 2289 E>G No Ensembl
rs2128521026 2289 E>K No Ensembl
rs2128521026 2289 E>Q No Ensembl
rs2128521022 2289 E>V No Ensembl
rs200558565 2290 G>A No TOPMed
gnomAD
rs200558565 2290 G>D No TOPMed
gnomAD
rs200558565 2290 G>V No TOPMed
gnomAD
rs2128521000 2291 P>L No Ensembl
rs2128521000 2291 P>R No Ensembl
rs1291536074 2292 L>I No TOPMed
gnomAD
rs1291536074 2292 L>V No TOPMed
gnomAD
rs2128520982 2293 G>A No Ensembl
rs1664453826 2293 G>C No Ensembl
rs2128520982 2293 G>D No Ensembl
rs1664453826 2293 G>R No Ensembl
rs1664453826 2293 G>S No Ensembl
rs2128520982 2293 G>V No Ensembl
rs2128520969 2294 S>C No Ensembl
COSM4401922
COSM4401923
rs2128520969
2294 S>F Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
rs2128520974 2294 S>T No Ensembl
rs1773601729 2295 Q>* No TOPMed
rs1773601729 2295 Q>E No TOPMed
COSM3619796
COSM3619797
rs2128520960
2295 Q>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No Ensembl
NCI-TCGA Cosmic
rs2128520949 2296 E>D No Ensembl
rs2128520951 2296 E>G No Ensembl
rs761155034
COSM739520
COSM739521
COSM1647886
2296 E>K lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] No NCI-TCGA Cosmic
cosmic curated
ExAC
NCI-TCGA
gnomAD
rs761155034 2296 E>Q No ExAC
gnomAD
rs2128520951 2296 E>V No Ensembl
rs2128520942 2297 S>C No Ensembl
rs2128520942 2297 S>F No Ensembl
rs2128520946 2297 S>T No Ensembl
rs2128520942 2297 S>Y No Ensembl
rs543882573 2298 E>D No ExAC
TOPMed
gnomAD
COSM3619795
COSM3619794
rs1451070985
2298 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
NCI-TCGA
gnomAD
rs1451070985 2298 E>Q No gnomAD
rs1268176818 2298 E>V No gnomAD
rs952691474 2299 S>A No Ensembl
rs2128520924 2299 S>C No Ensembl
rs2128520924 2299 S>F No Ensembl
rs952691474 2299 S>P No Ensembl
rs952691474 2299 S>T No Ensembl
rs1773599439 2300 C>* No Ensembl
rs1162487585 2300 C>F No gnomAD
rs1267697295 2300 C>R No Ensembl
rs1162487585 2300 C>S No gnomAD
rs1773599439 2300 C>W No Ensembl
rs1162487585 2300 C>Y No gnomAD
rs2128520903 2301 G>A No Ensembl
rs2128520903
TCGA novel
2301 G>D Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2128520903 2301 G>V No Ensembl
rs1773599085 2302 L>M No Ensembl
rs2128520896 2302 L>P No Ensembl
rs1773599085 2302 L>V No Ensembl
rs2128520887 2303 R>K No Ensembl
rs2128520887 2303 R>M No Ensembl
rs2128520887 2303 R>T No Ensembl
rs2128520883 2304 K>* No Ensembl
rs2128520883 2304 K>E No Ensembl
rs2128520877 2304 K>N No Ensembl
rs141670885 2305 E>* No ESP
ExAC
TOPMed
gnomAD
rs2128520866 2305 E>D No Ensembl
rs1773598163 2305 E>G No TOPMed
rs141670885 2305 E>K No ESP
ExAC
TOPMed
gnomAD
rs141670885 2305 E>Q No ESP
ExAC
TOPMed
gnomAD
rs1773597884 2306 E>* No TOPMed
rs2128520853 2306 E>D No Ensembl
rs760133473 2306 E>G No ExAC
gnomAD
rs1773597884 2306 E>K No TOPMed
rs1773597884 2306 E>Q No TOPMed
rs2128520849 2307 K>* No Ensembl
rs2128520844 2307 K>M No Ensembl
TCGA novel
rs2128520836
2307 K>N Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs2128520844 2307 K>R No Ensembl
rs2128520828 2308 E>D No Ensembl
COSM3920634
rs2128520834
COSM3920633
2308 E>K Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl
COSM483316
COSM1645908
2308 E>Q Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128520831 2308 E>V No Ensembl
rs1271530026 2309 P>A No gnomAD
rs199825447 2309 P>L No Ensembl
rs199825447 2309 P>R No Ensembl
rs1271530026 2309 P>S No gnomAD
rs1271530026 2309 P>T No gnomAD
rs2128520819 2310 H>D No Ensembl
rs1409586765 2310 H>L No gnomAD
rs1409586765
COSM4930667
COSM4930666
2310 H>P Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
gnomAD
rs2128520811 2310 H>Q No Ensembl
rs1409586765 2310 H>R No gnomAD
rs1773596227 2311 A>G No Ensembl
rs1773596532 2311 A>P No Ensembl
rs1773596532 2311 A>S No Ensembl
rs1773596532 2311 A>T No Ensembl
rs1773596227 2311 A>V No Ensembl
rs2128520788 2312 D>E No Ensembl
rs774522126 2312 D>G No ExAC
gnomAD
rs2128520793 2312 D>H No Ensembl
rs2128520793 2312 D>N No Ensembl
rs774522126 2312 D>V No ExAC
gnomAD
rs2128520793 2312 D>Y No Ensembl
rs2128520775 2314 D>E No Ensembl
rs771164515 2314 D>H No ExAC
gnomAD
rs771164515 2314 D>N No ExAC
gnomAD
rs2128520776 2314 D>V No Ensembl
rs771164515 2314 D>Y Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No ExAC
NCI-TCGA
gnomAD
rs2128520772 2315 F>I No Ensembl
rs2128520772 2315 F>L No Ensembl
rs1773595131 2315 F>L No TOPMed
gnomAD
rs199971914 2315 F>S No 1000Genomes
ExAC
TOPMed
gnomAD
rs199971914 2315 F>Y No 1000Genomes
ExAC
TOPMed
gnomAD
rs2128520750 2316 C>* No Ensembl
rs773542381 2316 C>F No ExAC
gnomAD
rs773542381 2316 C>S No ExAC
gnomAD
rs2128520762 2316 C>S No Ensembl
rs2128520750 2316 C>W No Ensembl
rs773542381 2316 C>Y No ExAC
gnomAD
rs2128520741 2317 Q>* No Ensembl
rs2128520741 2317 Q>E No Ensembl
rs2128520740 2317 Q>H No Ensembl
rs2128520741 2317 Q>K No Ensembl
rs768332561 2318 E>* No ExAC
TOPMed
gnomAD
rs1307353332 2318 E>G No gnomAD
rs768332561 2318 E>K No ExAC
TOPMed
gnomAD
rs768332561 2318 E>Q No ExAC
TOPMed
gnomAD
rs2128520731 2319 K>E No Ensembl
rs1430357922 2319 K>N No Ensembl
rs746755507 2320 Q>* No ExAC
TOPMed
rs779731708 2320 Q>H No ExAC
TOPMed
gnomAD
rs1773593720 2320 Q>R No TOPMed
rs756068637 2320 Q>T Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA
rs1773593324 2321 V>A No gnomAD
rs1773593324 2321 V>E No gnomAD
rs1773593324 2321 V>G No gnomAD
rs2128520707 2321 V>L No Ensembl
rs2128520707 2321 V>M No Ensembl
rs559726522 2322 A>P No 1000Genomes
ExAC
gnomAD
rs559726522 2322 A>S No 1000Genomes
ExAC
gnomAD
COSM4403686
COSM4403687
rs559726522
2322 A>T Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs2128520680 2323 Y>* No Ensembl
rs2128520687 2323 Y>D No Ensembl
rs1477810013 2323 Y>F No gnomAD
rs1773592818 2324 C>F No Ensembl
rs2128520676 2324 C>S No Ensembl
rs1773592818 2324 C>S No Ensembl
rs1459307793 2324 C>W No TOPMed
rs1773592818 2324 C>Y No Ensembl
rs2128520668 2325 P>A No Ensembl
rs2128520664 2325 P>L No Ensembl
rs2128520664 2325 P>R No Ensembl
rs2128520668 2325 P>S No Ensembl
rs1430294646 2326 S>C No gnomAD
COSM3828887
rs1430294646
COSM3828888
2326 S>F Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] No NCI-TCGA Cosmic
cosmic curated
NCI-TCGA
gnomAD
rs2128520660 2326 S>T No Ensembl
rs1430294646 2326 S>Y No gnomAD
rs1039978685 2327 G>A No TOPMed
gnomAD
rs372807954 2327 G>C No ESP
ExAC
TOPMed
gnomAD
rs1039978685 2327 G>D No TOPMed
gnomAD
rs372807954 2327 G>R No ESP
ExAC
TOPMed
gnomAD
rs372807954 2327 G>S No ESP
ExAC
TOPMed
gnomAD
rs1039978685 2327 G>V No TOPMed
gnomAD
rs35932630 2328 K>M No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1439867576 2328 K>N No TOPMed
gnomAD
VAR_049713
rs35932630
RCV000963870
2328 K>R No ClinVar
UniProt
1000Genomes
ESP
ExAC
TOPMed
dbSNP
gnomAD
rs143434059 2329 P>A No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1773591322 2329 P>H No TOPMed
rs1773591322 2329 P>L No TOPMed
rs1773591322 2329 P>R No TOPMed
rs143434059 2329 P>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs143434059 2329 P>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs2128520612 2330 E>D No Ensembl
rs2128520617 2330 E>G No Ensembl
rs2128520620 2330 E>K No Ensembl
rs2128520620 2330 E>Q No Ensembl
rs2128520617 2330 E>V No Ensembl
rs2128520603 2331 G>A No Ensembl
rs2128520609 2331 G>C No Ensembl
rs2128520603 2331 G>D No Ensembl
rs2128520609 2331 G>R No Ensembl
rs2128520603 2331 G>V No Ensembl
rs2128520598 2332 L>M No Ensembl
rs2128520596 2332 L>P No Ensembl
rs2128520596 2332 L>Q No Ensembl
rs2128520598 2332 L>V No Ensembl
rs2128520584 2333 N>K No Ensembl
rs2128520591 2333 N>S No Ensembl
rs2128520580 2334 Y>* No Ensembl
rs755725202 2334 Y>C No ExAC
gnomAD
rs755725202 2334 Y>F No ExAC
gnomAD
rs2128520582 2334 Y>H No Ensembl
rs2128520582 2334 Y>N No Ensembl
rs2128520571 2335 A>D No Ensembl
rs2128520571 2335 A>G No Ensembl
rs2128520576 2335 A>P No Ensembl
rs2128520576 2335 A>T No Ensembl
rs2128520571 2335 A>V No Ensembl
rs565221390 2336 C>* No 1000Genomes
ExAC
TOPMed
gnomAD
rs2128520562 2336 C>F No Ensembl
rs2128520566 2336 C>R No Ensembl
rs2128520562 2336 C>S No Ensembl
rs565221390 2336 C>W No 1000Genomes
ExAC
TOPMed
gnomAD
rs2128520552 2337 L>F No Ensembl
rs2128520547 2337 L>H No Ensembl
rs2128520547 2337 L>P No Ensembl
rs2128520552 2337 L>V No Ensembl
rs1773589751 2338 T>A No Ensembl
rs1773589751 2338 T>S No Ensembl
rs2128520531 2338 T>S No Ensembl
rs2128520524 2339 H>D No Ensembl
rs200900115 2339 H>L No ExAC
gnomAD
rs2128520524 2339 H>N No Ensembl
rs200900115 2339 H>P No ExAC
gnomAD
rs2128520512 2339 H>Q No Ensembl
rs2128520524 2339 H>Y No Ensembl
rs2128520502 2340 S>N No Ensembl
rs760078455 2340 S>R No ExAC
gnomAD
rs2128520502 2340 S>T No Ensembl
rs2128520493
TCGA novel
2341 G>E Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA
Ensembl
rs1442866318 2341 G>R No TOPMed
gnomAD
rs2128520482 2342 Y>* No Ensembl
COSM267349 2342 Y>H Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] No NCI-TCGA Cosmic
rs2128520487 2342 Y>N No Ensembl
rs2128520474 2343 G>A No Ensembl
rs2128520474 2343 G>E No Ensembl
rs2128520478 2343 G>R No Ensembl
rs2128520474 2343 G>V No Ensembl
rs1266344795 2344 D>E No TOPMed
rs766555708 2344 D>H No ExAC
TOPMed
gnomAD
rs766555708 2344 D>N No ExAC
TOPMed
gnomAD
rs766555708 2344 D>Y No ExAC
TOPMed
gnomAD
rs371063080 2345 G>A No ESP
ExAC
TOPMed
gnomAD
rs371063080 2345 G>E No ESP
ExAC
TOPMed
gnomAD
rs2128520466 2345 G>R No Ensembl
rs371063080 2345 G>V No ESP
ExAC
TOPMed
gnomAD
rs2128520458 2346 S>A No Ensembl
rs1178874356 2346 S>C No TOPMed
gnomAD
rs2128520458 2346 S>P No Ensembl
rs2128520458 2346 S>T No Ensembl
rs2128520441 2347 D>E No Ensembl
rs2128520449 2347 D>H No Ensembl
rs2128520449 2347 D>N No Ensembl
rs2128520445 2347 D>V No Ensembl
rs2128520438 2348 D>K No Ensembl
rs2128520435
COSM291293
2348 D>Y Variant assessed as Somatic; HIGH impact. [NCI-TCGA] No NCI-TCGA Cosmic
Ensembl

1 associated diseases with P08922

Without disease ID

19 regional properties for P08922

Type Name Position InterPro Accession
repeat LDLR class B repeat 359 - 399 IPR000033-1
repeat LDLR class B repeat 697 - 736 IPR000033-2
repeat LDLR class B repeat 738 - 780 IPR000033-3
repeat LDLR class B repeat 781 - 819 IPR000033-4
domain Protein kinase domain 1945 - 2222 IPR000719
domain Serine-threonine/tyrosine-protein kinase, catalytic domain 1948 - 2215 IPR001245
conserved_site Tyrosine-protein kinase, receptor class II, conserved site 2108 - 2116 IPR002011
domain Fibronectin type III 99 - 196 IPR003961-1
domain Fibronectin type III 195 - 285 IPR003961-2
domain Fibronectin type III 557 - 671 IPR003961-3
domain Fibronectin type III 948 - 1028 IPR003961-4
domain Fibronectin type III 1041 - 1150 IPR003961-5
domain Fibronectin type III 1469 - 1539 IPR003961-6
domain Fibronectin type III 1557 - 1656 IPR003961-7
domain Fibronectin type III 1658 - 1751 IPR003961-8
domain Fibronectin type III 1753 - 1842 IPR003961-9
active_site Tyrosine-protein kinase, active site 2075 - 2087 IPR008266
binding_site Protein kinase, ATP binding site 1951 - 1980 IPR017441
domain Tyrosine-protein kinase, catalytic domain 1945 - 2215 IPR020635

Functions

Description
EC Number 2.7.10.1 Protein-tyrosine kinases
Subcellular Localization
  • Cell membrane ; Single-pass type I membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

3 GO annotations of cellular component

Name Definition
membrane A lipid bilayer along with all the proteins and protein complexes embedded in it and attached to it.
plasma membrane The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins.
receptor complex Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function.

4 GO annotations of molecular function

Name Definition
ATP binding Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
protein phosphatase binding Binding to a protein phosphatase.
protein tyrosine kinase activity Catalysis of the reaction
transmembrane receptor protein tyrosine kinase activity Combining with a signal and transmitting the signal from one side of the membrane to the other to initiate a change in cell activity by catalysis of the reaction

8 GO annotations of biological process

Name Definition
cell differentiation The cellular developmental process in which a relatively unspecialized cell, e.g. embryonic or regenerative cell, acquires specialized structural and/or functional features that characterize a specific cell. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state.
columnar/cuboidal epithelial cell development The process whose specific outcome is the progression of a columnar/cuboidal epithelial cell over time, from its formation to the mature structure. A columnar/cuboidal epithelial cell is a cell usually found in a two dimensional sheet with a free surface. Columnar/cuboidal epithelial cells take on the shape of a column or cube.
protein phosphorylation The process of introducing a phosphate group on to a protein.
regulation of cell growth Any process that modulates the frequency, rate, extent or direction of cell growth.
regulation of ERK1 and ERK2 cascade Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade.
regulation of TOR signaling Any process that modulates the frequency, rate or extent of TOR signaling.
spermatogenesis The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa.
transmembrane receptor protein tyrosine kinase signaling pathway The series of molecular signals initiated by an extracellular ligand binding to a receptor on the surface of the target cell where the receptor possesses tyrosine kinase activity, and ending with the regulation of a downstream cellular process, e.g. transcription.

53 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q769I5 MET Hepatocyte growth factor receptor Bos taurus (Bovine) PR
A0M8S8 MET Hepatocyte growth factor receptor Felis catus (Cat) (Felis silvestris catus) PR
P14616 INSRR Insulin receptor-related protein Homo sapiens (Human) SS
Q9UM73 ALK ALK tyrosine kinase receptor Homo sapiens (Human) EV
Q06418 TYRO3 Tyrosine-protein kinase receptor TYRO3 Homo sapiens (Human) SS
P08069 IGF1R Insulin-like growth factor 1 receptor Homo sapiens (Human) EV
Q12866 MERTK Tyrosine-protein kinase Mer Homo sapiens (Human) EV
Q01974 ROR2 Tyrosine-protein kinase transmembrane receptor ROR2 Homo sapiens (Human) EV
P07949 RET Proto-oncogene tyrosine-protein kinase receptor Ret Homo sapiens (Human) EV
O15146 MUSK Muscle, skeletal receptor tyrosine-protein kinase Homo sapiens (Human) EV
Q01973 ROR1 Inactive tyrosine-protein kinase transmembrane receptor ROR1 Homo sapiens (Human) PR
Q16832 DDR2 Discoidin domain-containing receptor 2 Homo sapiens (Human) SS
Q08345 DDR1 Epithelial discoidin domain-containing receptor 1 Homo sapiens (Human) EV
Q16620 NTRK2 BDNF/NT-3 growth factors receptor Homo sapiens (Human) EV
P04629 NTRK1 High affinity nerve growth factor receptor Homo sapiens (Human) EV
Q16288 NTRK3 NT-3 growth factor receptor Homo sapiens (Human) SS
P35916 FLT4 Vascular endothelial growth factor receptor 3 Homo sapiens (Human) SS
P17948 FLT1 Vascular endothelial growth factor receptor 1 Homo sapiens (Human) SS
P35968 KDR Vascular endothelial growth factor receptor 2 Homo sapiens (Human) EV
P29317 EPHA2 Ephrin type-A receptor 2 Homo sapiens (Human) SS
P21709 EPHA1 Ephrin type-A receptor 1 Homo sapiens (Human) SS
P54760 EPHB4 Ephrin type-B receptor 4 Homo sapiens (Human) SS
P29376 LTK Leukocyte tyrosine kinase receptor Homo sapiens (Human) SS
P06213 INSR Insulin receptor Homo sapiens (Human) EV
P11362 FGFR1 Fibroblast growth factor receptor 1 Homo sapiens (Human) EV
P21802 FGFR2 Fibroblast growth factor receptor 2 Homo sapiens (Human) EV
P22455 FGFR4 Fibroblast growth factor receptor 4 Homo sapiens (Human) SS
P22607 FGFR3 Fibroblast growth factor receptor 3 Homo sapiens (Human) EV
Q04912 MST1R Macrophage-stimulating protein receptor Homo sapiens (Human) EV
P30530 AXL Tyrosine-protein kinase receptor UFO Homo sapiens (Human) PR
P08581 MET Hepatocyte growth factor receptor Homo sapiens (Human) EV
P04626 ERBB2 Receptor tyrosine-protein kinase erbB-2 Homo sapiens (Human) SS
Q15303 ERBB4 Receptor tyrosine-protein kinase erbB-4 Homo sapiens (Human) SS
P21860 ERBB3 Receptor tyrosine-protein kinase erbB-3 Homo sapiens (Human) SS
P00533 EGFR Epidermal growth factor receptor Homo sapiens (Human) EV
P34925 RYK Tyrosine-protein kinase RYK Homo sapiens (Human) PR
Q02763 TEK Angiopoietin-1 receptor Homo sapiens (Human) SS
P35590 TIE1 Tyrosine-protein kinase receptor Tie-1 Homo sapiens (Human) PR
P10721 KIT Mast/stem cell growth factor receptor Kit Homo sapiens (Human) EV
P09619 PDGFRB Platelet-derived growth factor receptor beta Homo sapiens (Human) EV
P07333 CSF1R Macrophage colony-stimulating factor 1 receptor Homo sapiens (Human) SS
P16234 PDGFRA Platelet-derived growth factor receptor alpha Homo sapiens (Human) EV
P36888 FLT3 Receptor-type tyrosine-protein kinase FLT3 Homo sapiens (Human) EV
Q9WTL4 Insrr Insulin receptor-related protein Mus musculus (Mouse) SS
Q62190 Mst1r Macrophage-stimulating protein receptor Mus musculus (Mouse) SS
P97793 Alk ALK tyrosine kinase receptor Mus musculus (Mouse) SS
P16056 Met Hepatocyte growth factor receptor Mus musculus (Mouse) PR
P97523 Met Hepatocyte growth factor receptor Rattus norvegicus (Rat) PR
Q64716 Insrr Insulin receptor-related protein Rattus norvegicus (Rat) SS
H2KZU7 svh-2 Tyrosine-protein kinase receptor svh-2 Caenorhabditis elegans SS
Q8I7I5 rol-3 Protein roller-3 Caenorhabditis elegans PR
F1QVU0 ltk Tyrosine-protein kinase receptor Danio rerio (Zebrafish) (Brachydanio rerio) SS
F8W3R9 alk ALK tyrosine kinase receptor Danio rerio (Zebrafish) (Brachydanio rerio) SS
10 20 30 40 50 60
MKNIYCLIPK LVNFATLGCL WISVVQCTVL NSCLKSCVTN LGQQLDLGTP HNLSEPCIQG
70 80 90 100 110 120
CHFWNSVDQK NCALKCRESC EVGCSSAEGA YEEEVLENAD LPTAPFASSI GSHNMTLRWK
130 140 150 160 170 180
SANFSGVKYI IQWKYAQLLG SWTYTKTVSR PSYVVKPLHP FTEYIFRVVW IFTAQLQLYS
190 200 210 220 230 240
PPSPSYRTHP HGVPETAPLI RNIESSSPDT VEVSWDPPQF PGGPILGYNL RLISKNQKLD
250 260 270 280 290 300
AGTQRTSFQF YSTLPNTIYR FSIAAVNEVG EGPEAESSIT TSSSAVQQEE QWLFLSRKTS
310 320 330 340 350 360
LRKRSLKHLV DEAHCLRLDA IYHNITGISV DVHQQIVYFS EGTLIWAKKA ANMSDVSDLR
370 380 390 400 410 420
IFYRGSGLIS SISIDWLYQR MYFIMDELVC VCDLENCSNI EEITPPSISA PQKIVADSYN
430 440 450 460 470 480
GYVFYLLRDG IYRADLPVPS GRCAEAVRIV ESCTLKDFAI KPQAKRIIYF NDTAQVFMST
490 500 510 520 530 540
FLDGSASHLI LPRIPFADVK SFACENNDFL VTDGKVIFQQ DALSFNEFIV GCDLSHIEEF
550 560 570 580 590 600
GFGNLVIFGS SSQLHPLPGR PQELSVLFGS HQALVQWKPP ALAIGANVIL ISDIIELFEL
610 620 630 640 650 660
GPSAWQNWTY EVKVSTQDPP EVTHIFLNIS GTMLNVPELQ SAMKYKVSVR ASSPKRPGPW
670 680 690 700 710 720
SEPSVGTTLV PASEPPFIMA VKEDGLWSKP LNSFGPGEFL SSDIGNVSDM DWYNNSLYYS
730 740 750 760 770 780
DTKGDVFVWL LNGTDISENY HLPSIAGAGA LAFEWLGHFL YWAGKTYVIQ RQSVLTGHTD
790 800 810 820 830 840
IVTHVKLLVN DMVVDSVGGY LYWTTLYSVE STRLNGESSL VLQTQPWFSG KKVIALTLDL
850 860 870 880 890 900
SDGLLYWLVQ DSQCIHLYTA VLRGQSTGDT TITEFAAWST SEISQNALMY YSGRLFWING
910 920 930 940 950 960
FRIITTQEIG QKTSVSVLEP ARFNQFTIIQ TSLKPLPGNF SFTPKVIPDS VQESSFRIEG
970 980 990 1000 1010 1020
NASSFQILWN GPPAVDWGVV FYSVEFSAHS KFLASEQHSL PVFTVEGLEP YALFNLSVTP
1030 1040 1050 1060 1070 1080
YTYWGKGPKT SLSLRAPETV PSAPENPRIF ILPSGKCCNK NEVVVEFRWN KPKHENGVLT
1090 1100 1110 1120 1130 1140
KFEIFYNISN QSITNKTCED WIAVNVTPSV MSFQLEGMSP RCFIAFQVRA FTSKGPGPYA
1150 1160 1170 1180 1190 1200
DVVKSTTSEI NPFPHLITLL GNKIVFLDMD QNQVVWTFSA ERVISAVCYT ADNEMGYYAE
1210 1220 1230 1240 1250 1260
GDSLFLLHLH NRSSSELFQD SLVFDITVIT IDWISRHLYF ALKESQNGMQ VFDVDLEHKV
1270 1280 1290 1300 1310 1320
KYPREVKIHN RNSTIISFSV YPLLSRLYWT EVSNFGYQMF YYSIISHTLH RILQPTATNQ
1330 1340 1350 1360 1370 1380
QNKRNQCSCN VTEFELSGAM AIDTSNLEKP LIYFAKAQEI WAMDLEGCQC WRVITVPAML
1390 1400 1410 1420 1430 1440
AGKTLVSLTV DGDLIYWIIT AKDSTQIYQA KKGNGAIVSQ VKALRSRHIL AYSSVMQPFP
1450 1460 1470 1480 1490 1500
DKAFLSLASD TVEPTILNAT NTSLTIRLPL AKTNLTWYGI TSPTPTYLVY YAEVNDRKNS
1510 1520 1530 1540 1550 1560
SDLKYRILEF QDSIALIEDL QPFSTYMIQI AVKNYYSDPL EHLPPGKEIW GKTKNGVPEA
1570 1580 1590 1600 1610 1620
VQLINTTVRS DTSLIISWRE SHKPNGPKES VRYQLAISHL ALIPETPLRQ SEFPNGRLTL
1630 1640 1650 1660 1670 1680
LVTRLSGGNI YVLKVLACHS EEMWCTESHP VTVEMFNTPE KPYSLVPENT SLQFNWKAPL
1690 1700 1710 1720 1730 1740
NVNLIRFWVE LQKWKYNEFY HVKTSCSQGP AYVCNITNLQ PYTSYNVRVV VVYKTGENST
1750 1760 1770 1780 1790 1800
SLPESFKTKA GVPNKPGIPK LLEGSKNSIQ WEKAEDNGCR ITYYILEIRK STSNNLQNQN
1810 1820 1830 1840 1850 1860
LRWKMTFNGS CSSVCTWKSK NLKGIFQFRV VAANNLGFGE YSGISENIIL VGDDFWIPET
1870 1880 1890 1900 1910 1920
SFILTIIVGI FLVVTIPLTF VWHRRLKNQK SAKEGVTVLI NEDKELAELR GLAAGVGLAN
1930 1940 1950 1960 1970 1980
ACYAIHTLPT QEEIENLPAF PREKLTLRLL LGSGAFGEVY EGTAVDILGV GSGEIKVAVK
1990 2000 2010 2020 2030 2040
TLKKGSTDQE KIEFLKEAHL MSKFNHPNIL KQLGVCLLNE PQYIILELME GGDLLTYLRK
2050 2060 2070 2080 2090 2100
ARMATFYGPL LTLVDLVDLC VDISKGCVYL ERMHFIHRDL AARNCLVSVK DYTSPRIVKI
2110 2120 2130 2140 2150 2160
GDFGLARDIY KNDYYRKRGE GLLPVRWMAP ESLMDGIFTT QSDVWSFGIL IWEILTLGHQ
2170 2180 2190 2200 2210 2220
PYPAHSNLDV LNYVQTGGRL EPPRNCPDDL WNLMTQCWAQ EPDQRPTFHR IQDQLQLFRN
2230 2240 2250 2260 2270 2280
FFLNSIYKSR DEANNSGVIN ESFEGEDGDV ICLNSDDIMP VALMETKNRE GLNYMVLATE
2290 2300 2310 2320 2330 2340
CGQGEEKSEG PLGSQESESC GLRKEEKEPH ADKDFCQEKQ VAYCPSGKPE GLNYACLTHS
GYGDGSD