P12882
Gene name |
MYH1 |
Protein name |
Myosin-1 |
Names |
Myosin heavy chain 1 , Myosin heavy chain 2x , MyHC-2x , Myosin heavy chain IIx/d , MyHC-IIx/d , Myosin heavy chain, skeletal muscle, adult 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4619 |
EC number |
|
Protein Class |
|

Descriptions
Autoinhibitory domains (AIDs)
Target domain |
80-783 (Myosin head, motor domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

1 structures for P12882
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-P12882-F1 | Predicted | AlphaFoldDB |
2321 variants for P12882
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs760814306 RCV002555966 RCV001093237 |
55 | R>G | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
rs369367267 | 4 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
COSM3513898 | 6 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs769435909 | 7 | M>L | No |
ExAC TOPMed gnomAD |
|
rs146363375 | 7 | M>T | No |
ESP ExAC gnomAD |
|
rs953538402 | 8 | A>T | No | TOPMed | |
rs1315177607 | 8 | A>V | No |
TOPMed gnomAD |
|
rs1378179323 | 10 | F>I | No | gnomAD | |
rs1567724048 | 10 | F>S | No | Ensembl | |
rs1282155033 | 11 | G>R | No |
TOPMed gnomAD |
|
rs2073232228 | 12 | E>K | No | Ensembl | |
rs754932067 | 13 | A>P | No |
ExAC TOPMed gnomAD |
|
rs754932067 | 13 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1361044268 COSM1135870 |
13 | A>V | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs2073232056 | 14 | A>S | No | Ensembl | |
rs2073232025 | 14 | A>V | No |
TOPMed gnomAD |
|
rs751498075 | 15 | P>S | No |
ExAC TOPMed gnomAD |
|
rs2073231961 | 17 | L>P | No | Ensembl | |
COSM3771261 rs149414197 |
18 | R>* | pancreas [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs138934137 | 18 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs2073231768 | 20 | S>P | No | Ensembl | |
rs781018519 | 22 | R>K | No |
ExAC gnomAD |
|
rs762025820 | 22 | R>S | No |
ExAC TOPMed gnomAD |
|
rs753873395 | 23 | E>* | No |
ExAC gnomAD |
|
COSM6080125 | 23 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs201854401 COSM162710 |
24 | R>* | breast [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs61730792 | 24 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
rs61730792 COSM225380 |
24 | R>Q | NS [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs772613952 | 25 | I>M | No |
ExAC TOPMed gnomAD |
|
rs142020114 | 25 | I>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs760000514 COSM975328 |
26 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs1438821864 | 27 | A>T | No | TOPMed | |
rs1271071582 | 27 | A>V | No | gnomAD | |
rs774735806 | 28 | Q>H | No |
ExAC TOPMed gnomAD |
|
rs2073231380 | 30 | K>T | No | TOPMed | |
rs548462024 | 31 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs373514983 | 32 | F>S | No |
ESP ExAC TOPMed gnomAD |
|
rs780635089 | 36 | T>I | No |
ExAC TOPMed gnomAD |
|
COSM3889252 | 37 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073231096 | 38 | V>A | No | TOPMed | |
rs2073231096 | 38 | V>D | No | TOPMed | |
rs1172349606 | 38 | V>L | No | gnomAD | |
rs1345474273 | 42 | D>N | No |
TOPMed gnomAD |
|
rs747001035 | 42 | D>V | No |
ExAC TOPMed gnomAD |
|
rs1452866858 | 43 | P>A | No | TOPMed | |
TCGA novel | 43 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs779992111 | 45 | E>K | No |
ExAC gnomAD |
|
rs758295319 | 46 | S>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs758295319 | 46 | S>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs146933070 COSM3728177 |
47 | F>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs146933070 | 47 | F>Y | No |
ESP ExAC TOPMed gnomAD |
|
rs1174712504 | 48 | V>E | No |
TOPMed gnomAD |
|
rs2073230749 | 49 | K>R | No | TOPMed | |
rs1200743630 | 50 | A>T | No | gnomAD | |
rs2073230674 | 50 | A>V | No | Ensembl | |
rs764120209 | 51 | T>R | No |
ExAC gnomAD |
|
rs765214833 | 52 | V>L | No | gnomAD | |
rs1414711341 | 53 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs1382816426 | 56 | E>K | No |
TOPMed gnomAD |
|
rs200550531 | 57 | G>A | No |
ExAC TOPMed gnomAD |
|
rs200550531 | 57 | G>E | No |
ExAC TOPMed gnomAD |
|
rs1023875526 | 57 | G>R | No | gnomAD | |
rs200550531 | 57 | G>V | No |
ExAC TOPMed gnomAD |
|
rs1023875526 | 57 | G>W | No | gnomAD | |
rs760064167 | 58 | G>R | No | ExAC | |
COSM5639311 rs1177807589 |
59 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
rs771323354 | 60 | V>L | No |
ExAC gnomAD |
|
rs761412998 | 61 | T>I | No |
ExAC gnomAD |
|
rs776328776 | 62 | A>T | No |
ExAC TOPMed |
|
rs768253125 | 63 | K>E | No |
ExAC TOPMed |
|
rs1438973586 | 63 | K>R | No | Ensembl | |
rs777670733 | 65 | E>A | No |
ExAC TOPMed gnomAD |
|
COSM173999 rs544824288 |
65 | E>K | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
TCGA novel | 68 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs190884510 | 68 | A>T | No |
1000Genomes TOPMed |
|
rs2073228920 | 69 | T>A | No | TOPMed | |
rs1422942762 | 69 | T>I | No |
TOPMed gnomAD |
|
rs143844924 | 70 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs760265363 | 76 | Q>H | No |
ExAC TOPMed gnomAD |
|
COSM417200 | 76 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1051892254 | 77 | V>G | No | Ensembl | |
rs534756197 | 79 | P>A | No |
1000Genomes TOPMed gnomAD |
|
rs771563484 | 79 | P>H | No |
ExAC gnomAD |
|
rs534756197 | 79 | P>S | No |
1000Genomes TOPMed gnomAD |
|
rs770723956 | 80 | M>K | No |
ExAC gnomAD |
|
rs745829180 | 80 | M>L | No |
ExAC gnomAD |
|
rs770723956 | 80 | M>T | No |
ExAC gnomAD |
|
rs745829180 | 80 | M>V | No |
ExAC gnomAD |
|
rs2073228537 | 81 | N>K | No | gnomAD | |
rs1342180696 | 82 | P>A | No |
TOPMed gnomAD |
|
rs749137848 | 82 | P>R | No |
ExAC gnomAD |
|
rs1277469486 | 83 | P>S | No | gnomAD | |
rs756464905 | 84 | K>R | No |
ExAC gnomAD |
|
rs748378011 | 85 | Y>C | No |
ExAC gnomAD |
|
COSM283011 rs2073228244 |
87 | K>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs1300548626 | 88 | I>S | No | gnomAD | |
rs755063823 | 89 | E>K | No |
ExAC TOPMed gnomAD |
|
rs1157054699 | 90 | D>Y | No |
TOPMed gnomAD |
|
rs947251793 | 91 | M>V | No |
TOPMed gnomAD |
|
rs2073228018 | 92 | A>S | No | TOPMed | |
TCGA novel | 92 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM401678 rs751548269 |
93 | M>I | Variant assessed as Somatic; MODERATE impact. lung breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC gnomAD |
rs941478033 | 94 | M>T | No |
TOPMed gnomAD |
|
rs766943774 | 95 | T>S | No |
ExAC TOPMed gnomAD |
|
rs2073227777 | 97 | L>V | No | Ensembl | |
rs61739660 | 98 | H>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM6145605 | 99 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2142282260 | 99 | E>G | No | Ensembl | |
COSM3969805 rs988594695 |
99 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs201260086 | 100 | P>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs201260086 COSM1520139 |
100 | P>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs201260086 | 100 | P>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs760383904 | 101 | A>P | No |
ExAC TOPMed gnomAD |
|
rs760383904 | 101 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1356545876 | 102 | V>M | No | gnomAD | |
rs187270597 | 103 | L>P | No |
1000Genomes ExAC gnomAD |
|
rs2073227278 | 104 | Y>* | No | gnomAD | |
rs1280726981 | 104 | Y>H | No | gnomAD | |
rs759108818 | 105 | N>I | No |
ExAC TOPMed gnomAD |
|
rs759108818 | 105 | N>S | No |
ExAC TOPMed gnomAD |
|
rs1316255699 | 106 | L>F | No |
TOPMed gnomAD |
|
rs1848014597 | 106 | L>P | No | Ensembl | |
COSM705105 rs969846141 |
107 | K>R | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs773693120 | 108 | E>G | No |
ExAC gnomAD |
|
COSM975325 rs374097415 |
109 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs762739182 | 109 | R>H | No |
ExAC TOPMed gnomAD |
|
rs762739182 | 109 | R>L | No |
ExAC TOPMed gnomAD |
|
rs769682510 | 111 | A>T | No |
ExAC TOPMed gnomAD |
|
RCV001093236 rs759178467 |
112 | A>D | No |
ClinVar TOPMed dbSNP gnomAD |
|
rs759178467 | 112 | A>V | No |
TOPMed gnomAD |
|
rs2073226482 | 113 | W>* | No | Ensembl | |
rs372428243 | 113 | W>C | No |
ESP ExAC TOPMed gnomAD |
|
COSM293962 rs768724975 |
116 | Y>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
rs2142282139 | 116 | Y>C | No | Ensembl | |
rs765274101 | 117 | T>S | No |
ExAC TOPMed gnomAD |
|
rs2073224171 | 119 | S>L | No | TOPMed | |
rs2073224201 | 119 | S>P | No | Ensembl | |
rs1046271569 | 120 | G>A | No |
TOPMed gnomAD |
|
rs1046271569 | 120 | G>V | No |
TOPMed gnomAD |
|
rs2142281913 | 121 | L>F | No | Ensembl | |
TCGA novel | 122 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1231467730 | 122 | F>Y | No | gnomAD | |
rs1486257262 | 123 | C>S | No |
TOPMed gnomAD |
|
rs1486257262 | 123 | C>Y | No |
TOPMed gnomAD |
|
rs576935532 | 124 | V>A | No |
ExAC TOPMed gnomAD |
|
rs576935532 | 124 | V>D | No |
ExAC TOPMed gnomAD |
|
COSM975324 | 126 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3402592 | 127 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs772228098 | 127 | N>K | No |
ExAC gnomAD |
|
rs775550371 | 127 | N>S | No |
ExAC TOPMed gnomAD |
|
rs775550371 | 127 | N>T | No |
ExAC TOPMed gnomAD |
|
rs1224516046 | 128 | P>L | No |
TOPMed gnomAD |
|
rs745974757 | 128 | P>S | No |
ExAC gnomAD |
|
rs749781453 | 131 | W>* | No |
ExAC TOPMed gnomAD |
|
rs1448714410 | 131 | W>* | No | gnomAD | |
rs749781453 | 131 | W>L | No |
ExAC TOPMed gnomAD |
|
rs2073223743 | 131 | W>R | No |
TOPMed gnomAD |
|
rs575549959 | 132 | L>F | No |
1000Genomes ExAC gnomAD |
|
rs758060974 | 134 | V>A | No |
ExAC gnomAD |
|
rs758060974 | 134 | V>E | No |
ExAC gnomAD |
|
rs748496920 | 134 | V>L | No |
ExAC TOPMed gnomAD |
|
rs764830363 | 136 | N>K | No |
ExAC TOPMed gnomAD |
|
rs938504818 | 136 | N>Y | No | TOPMed | |
rs1269740449 | 139 | V>L | No | TOPMed | |
rs1269740449 | 139 | V>M | No | TOPMed | |
TCGA novel | 141 | T>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1220782392 | 142 | A>D | No |
TOPMed gnomAD |
|
rs1220782392 | 142 | A>G | No |
TOPMed gnomAD |
|
COSM3513893 | 142 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2142281803 | 143 | Y>H | No | Ensembl | |
rs757334606 | 144 | R>* | No |
ExAC TOPMed gnomAD |
|
rs753684645 | 144 | R>L | No |
ExAC TOPMed gnomAD |
|
COSM3513892 rs753684645 |
144 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs2073222857 | 146 | K>* | No | Ensembl | |
rs2073222820 | 147 | K>N | No | TOPMed | |
COSM975323 | 147 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1737800 rs201587697 |
148 | R>C | central_nervous_system [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs542085416 COSM975322 |
148 | R>H | endometrium [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs542085416 | 148 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1159789095 | 149 | Q>R | No | TOPMed | |
rs1489348825 | 150 | E>K | No | gnomAD | |
rs767731312 | 151 | A>D | No |
ExAC TOPMed gnomAD |
|
rs767731312 | 151 | A>G | No |
ExAC TOPMed gnomAD |
|
rs2073222698 | 151 | A>S | No | TOPMed | |
rs767731312 COSM975321 |
151 | A>V | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs774469687 | 153 | P>S | No |
ExAC TOPMed gnomAD |
|
rs774469687 | 153 | P>T | No |
ExAC TOPMed gnomAD |
|
rs770993051 | 154 | H>R | No |
ExAC TOPMed gnomAD |
|
rs1354569192 | 155 | I>F | No |
TOPMed gnomAD |
|
rs1291436390 | 155 | I>N | No | gnomAD | |
rs1354569192 | 155 | I>V | No |
TOPMed gnomAD |
|
rs1345748585 | 157 | S>T | No | TOPMed | |
rs1340609973 | 157 | S>Y | No | gnomAD | |
rs2073222277 | 158 | I>T | No | gnomAD | |
rs2073222312 | 158 | I>V | No | gnomAD | |
COSM1380801 | 159 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM6080128 | 160 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1404002552 | 163 | Y>C | No |
TOPMed gnomAD |
|
rs2073222186 | 164 | Q>* | No | Ensembl | |
rs1283004277 | 164 | Q>H | No | TOPMed | |
COSM975320 | 165 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs144235267 | 165 | F>Y | No |
ESP ExAC TOPMed gnomAD |
|
rs748467306 | 166 | M>K | No | ExAC | |
rs1165006953 | 167 | L>P | No | gnomAD | |
COSM3889251 | 168 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1597444369 | 168 | T>N | No | Ensembl | |
rs2073210069 | 169 | D>E | No | Ensembl | |
rs547827371 | 169 | D>G | No |
1000Genomes ExAC gnomAD |
|
COSM6145607 | 169 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs769113864 | 170 | R>G | No |
ExAC TOPMed gnomAD |
|
rs745562169 | 170 | R>L | No |
ExAC TOPMed gnomAD |
|
rs745562169 | 170 | R>Q | No |
ExAC TOPMed gnomAD |
|
COSM4497934 rs769113864 |
170 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs2073209930 | 171 | E>* | No | TOPMed | |
rs778727805 | 171 | E>A | No |
ExAC TOPMed gnomAD |
|
COSM3513888 | 173 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs907225050 | 173 | Q>K | No |
TOPMed gnomAD |
|
COSM6145608 | 174 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs756063118 | 175 | I>L | No |
ExAC TOPMed gnomAD |
|
rs573461176 | 175 | I>T | No | Ensembl | |
rs2073209627 | 176 | L>F | No | TOPMed | |
rs1233154268 COSM5937732 |
177 | I>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
rs112621883 | 178 | T>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
rs139608801 | 178 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
rs779814264 | 179 | G>* | No |
ExAC TOPMed gnomAD |
|
rs998434018 | 179 | G>E | No | Ensembl | |
COSM4063854 rs779814264 |
179 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
COSM975319 | 180 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1567723111 | 180 | E>G | No | Ensembl | |
rs2073201891 | 181 | S>C | No | gnomAD | |
rs758617436 | 181 | S>T | No |
ExAC TOPMed gnomAD |
|
COSM3691326 | 181 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 182 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs374196346 | 183 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
rs374196346 COSM385431 |
183 | A>T | lung [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs1425314653 | 184 | G>A | No | gnomAD | |
COSM705106 | 184 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1221578380 | 184 | G>R | No | gnomAD | |
rs2073201545 | 186 | T>I | No | Ensembl | |
rs1484407559 | 188 | N>S | No | gnomAD | |
rs753924973 | 189 | T>I | No |
ExAC gnomAD |
|
rs144345763 | 191 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs144345763 | 191 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1349456975 | 191 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1349456975 | 191 | R>P | No |
TOPMed gnomAD |
|
rs1231030850 | 193 | I>F | No | TOPMed | |
rs1350794728 | 193 | I>M | No | TOPMed | |
rs761203055 | 194 | Q>* | No |
ExAC TOPMed gnomAD |
|
rs776053827 | 194 | Q>H | No |
ExAC TOPMed gnomAD |
|
rs761203055 | 194 | Q>K | No |
ExAC TOPMed gnomAD |
|
rs767917291 | 195 | Y>* | No |
ExAC gnomAD |
|
rs1052063759 | 196 | F>V | No |
TOPMed gnomAD |
|
rs895590730 | 199 | I>T | No |
TOPMed gnomAD |
|
rs772898629 | 199 | I>V | No |
ExAC TOPMed gnomAD |
|
rs1320310404 | 200 | A>G | No |
TOPMed gnomAD |
|
rs2073200727 | 202 | T>A | No | Ensembl | |
rs2073200700 | 202 | T>I | No | TOPMed | |
TCGA novel | 202 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1462883648 | 203 | G>E | No | gnomAD | |
rs769291293 | 203 | G>R | No |
ExAC gnomAD |
|
COSM705107 | 203 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs776064241 | 204 | E>D | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 206 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1474157885 | 206 | K>N | No |
TOPMed gnomAD |
|
rs1243379674 | 207 | K>E | No | gnomAD | |
rs1193327868 | 207 | K>R | No | gnomAD | |
rs2073200158 | 210 | V>A | No | Ensembl | |
rs924871375 | 210 | V>I | No | gnomAD | |
rs745604359 | 215 | M>K | No |
ExAC TOPMed gnomAD |
|
rs745604359 | 215 | M>R | No |
ExAC TOPMed gnomAD |
|
rs1356055028 | 217 | G>E | No | gnomAD | |
rs1438513665 | 217 | G>R | No | gnomAD | |
COSM1380800 | 218 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073198304 | 218 | T>P | No | Ensembl | |
rs1393718226 | 219 | L>V | No | gnomAD | |
TCGA novel | 220 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs543036753 | 221 | D>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1763291384 | 225 | S>G | No | TOPMed | |
TCGA novel | 226 | A>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1246294000 | 227 | N>K | No | TOPMed | |
rs1191357079 | 227 | N>S | No | gnomAD | |
rs2073197932 | 228 | P>L | No | TOPMed | |
rs2073197932 | 228 | P>R | No | TOPMed | |
rs1266350646 | 228 | P>S | No | TOPMed | |
COSM1380799 | 229 | L>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 231 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 231 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs778512147 | 232 | A>D | No |
ExAC TOPMed gnomAD |
|
COSM3421278 rs1234901085 |
232 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs778512147 | 232 | A>V | No |
ExAC TOPMed gnomAD |
|
rs1273073230 | 233 | F>C | No |
TOPMed gnomAD |
|
rs1273073230 | 233 | F>S | No |
TOPMed gnomAD |
|
rs572348018 | 235 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs778037134 | 236 | A>T | No |
ExAC TOPMed gnomAD |
|
rs2073197437 | 236 | A>V | No | TOPMed | |
rs2142279383 | 238 | T>P | No | Ensembl | |
rs962798304 | 239 | V>L | No |
TOPMed gnomAD |
|
rs962798304 | 239 | V>M | No |
TOPMed gnomAD |
|
rs1314619986 | 242 | D>G | No |
TOPMed gnomAD |
|
rs755383568 | 242 | D>N | No |
ExAC gnomAD |
|
rs1465088250 | 243 | N>S | No | TOPMed | |
TCGA novel | 243 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs374202732 COSM3513887 |
246 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs761496068 | 246 | R>H | No |
ExAC TOPMed gnomAD |
|
rs184529840 | 247 | F>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs750749644 | 249 | K>R | No |
ExAC TOPMed gnomAD |
|
rs188028622 | 250 | F>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs752307837 | 251 | I>V | No |
ExAC TOPMed gnomAD |
|
rs759557062 | 252 | R>S | No |
ExAC gnomAD |
|
rs146930442 | 253 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
rs565550881 | 255 | F>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs773084761 COSM3513886 |
256 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs1055984175 | 258 | T>A | No | Ensembl | |
rs2073194674 | 259 | G>V | No | gnomAD | |
rs2073194607 | 261 | L>V | No | TOPMed | |
rs909974770 | 262 | A>S | No |
TOPMed gnomAD |
|
rs1362031882 | 262 | A>V | No | gnomAD | |
rs1428140484 | 265 | D>H | No | gnomAD | |
rs776813582 | 266 | I>V | No |
ExAC gnomAD |
|
rs2073194374 | 267 | E>K | No | Ensembl | |
rs2142279000 | 269 | Y>H | No | Ensembl | |
rs762147671 | 271 | L>P | No |
ExAC gnomAD |
|
rs1056705175 | 272 | E>G | No |
TOPMed gnomAD |
|
rs1567722583 | 274 | S>C | No | Ensembl | |
rs1377152746 | 275 | R>K | No | Ensembl | |
rs2073187914 | 276 | V>I | No | TOPMed | |
rs1285703178 | 278 | F>C | No |
TOPMed gnomAD |
|
rs1285703178 | 278 | F>S | No |
TOPMed gnomAD |
|
rs758144869 | 279 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs768887733 | 279 | Q>H | No |
ExAC gnomAD |
|
rs2073187721 | 281 | K>N | No | TOPMed | |
rs1348984943 | 282 | A>V | No | TOPMed | |
TCGA novel | 284 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1330909814 | 285 | S>G | No | gnomAD | |
rs775486152 | 286 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs772621478 | 287 | H>Y | No |
ExAC gnomAD |
|
COSM975318 | 289 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs202232974 | 289 | F>V | No | Ensembl | |
rs1597443087 | 290 | Y>* | No | Ensembl | |
rs765390695 | 290 | Y>* | No |
ExAC gnomAD |
|
rs779286992 | 290 | Y>S | No | ExAC | |
rs1291217580 | 291 | Q>K | No | TOPMed | |
TCGA novel | 293 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2142278047 | 293 | M>K | No | Ensembl | |
rs757538092 | 293 | M>L | No |
ExAC gnomAD |
|
rs2073187274 | 294 | S>T | No | Ensembl | |
rs749614923 | 295 | N>K | No |
ExAC gnomAD |
|
rs1567722526 COSM3691359 |
298 | P>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
rs2142278024 | 299 | D>E | No | Ensembl | |
COSM1324183 | 299 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 303 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2142277940 | 303 | M>R | No | Ensembl | |
rs977895803 | 306 | I>F | No |
TOPMed gnomAD |
|
rs977895803 | 306 | I>L | No |
TOPMed gnomAD |
|
rs760868551 | 306 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
COSM1380797 | 308 | T>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1395491995 | 309 | N>T | No | gnomAD | |
rs866021004 | 310 | P>L | No |
TOPMed gnomAD |
|
rs866021004 | 310 | P>R | No |
TOPMed gnomAD |
|
rs1400394328 | 310 | P>T | No | gnomAD | |
rs571999841 | 311 | Y>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1454179138 | 311 | Y>H | No | gnomAD | |
COSM180595 rs760083213 |
312 | D>N | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs760083213 | 312 | D>Y | No |
ExAC TOPMed gnomAD |
|
rs771427623 | 313 | Y>* | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 313 | Y>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs749617793 | 314 | A>D | No |
ExAC TOPMed |
|
rs1186665786 | 314 | A>T | No |
TOPMed gnomAD |
|
rs749617793 | 314 | A>V | No |
ExAC TOPMed |
|
rs201099132 | 316 | V>F | No |
ExAC TOPMed gnomAD |
|
rs201099132 | 316 | V>I | No |
ExAC TOPMed gnomAD |
|
rs1486407118 | 317 | S>G | No | gnomAD | |
rs200210988 | 317 | S>R | No |
1000Genomes gnomAD |
|
rs142720137 | 318 | Q>* | No |
ESP ExAC TOPMed gnomAD |
|
rs142720137 | 318 | Q>K | No |
ESP ExAC TOPMed gnomAD |
|
rs758007589 | 319 | G>R | No |
ExAC TOPMed gnomAD |
|
rs749915275 | 321 | I>F | No |
ExAC TOPMed gnomAD |
|
rs749915275 | 321 | I>L | No |
ExAC TOPMed gnomAD |
|
rs202093997 | 321 | I>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs202093997 | 321 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2073184913 | 322 | T>A | No | TOPMed | |
rs2073184813 | 323 | V>G | No | gnomAD | |
rs2073184688 | 324 | P>H | No | TOPMed | |
rs2073184730 | 324 | P>T | No | TOPMed | |
rs763941186 | 325 | S>G | No |
ExAC TOPMed gnomAD |
|
rs2073184610 | 325 | S>R | No | TOPMed | |
rs752891317 | 326 | I>T | No |
ExAC TOPMed gnomAD |
|
rs760923712 | 326 | I>V | No |
ExAC gnomAD |
|
rs199905182 | 327 | D>N | No |
ExAC TOPMed gnomAD |
|
rs138473189 | 329 | Q>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs138473189 | 329 | Q>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs774421583 | 330 | E>Q | No | ExAC | |
COSM3513884 | 331 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 333 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2073184157 | 333 | M>T | No | TOPMed | |
rs1162587703 | 334 | A>V | No | gnomAD | |
TCGA novel | 338 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs777081411 | 339 | I>S | No |
ExAC gnomAD |
|
rs1329437266 | 339 | I>V | No | gnomAD | |
COSM3421277 | 340 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3513883 | 340 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 342 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2142277506 | 342 | L>Q | No | Ensembl | |
rs1368087359 | 343 | G>S | No |
TOPMed gnomAD |
|
rs2073181699 | 344 | F>C | No | TOPMed | |
rs150122346 | 344 | F>I | No |
1000Genomes ESP TOPMed gnomAD |
|
rs2007027 | 344 | F>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs150975395 | 345 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 346 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3889249 rs1477238452 |
348 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs143556595 | 349 | R>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2073181334 | 350 | V>G | No | Ensembl | |
rs777717443 COSM3513882 |
351 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs755977936 | 352 | I>N | No |
ExAC TOPMed gnomAD |
|
rs755977936 | 352 | I>T | No |
ExAC TOPMed gnomAD |
|
rs146767990 | 354 | K>* | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 354 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs755233937 | 356 | T>K | No |
ExAC gnomAD |
|
COSM6145610 | 357 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs796552940 | 357 | G>E | No |
TOPMed gnomAD |
|
rs374967860 | 357 | G>R | No |
ESP ExAC gnomAD |
|
rs796552940 | 357 | G>V | No |
TOPMed gnomAD |
|
TCGA novel | 358 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs533132026 | 359 | V>A | No |
1000Genomes ExAC gnomAD |
|
rs533132026 | 359 | V>E | No |
1000Genomes ExAC gnomAD |
|
rs1194370102 | 359 | V>M | No | gnomAD | |
rs147072526 | 360 | M>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2073180905 | 360 | M>L | No |
TOPMed gnomAD |
|
rs2073180879 | 360 | M>T | No | Ensembl | |
rs765856174 | 361 | H>R | No | ExAC | |
rs1288436285 | 361 | H>Y | No |
TOPMed gnomAD |
|
rs2073180729 | 362 | Y>C | No | gnomAD | |
COSM3513881 | 365 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2142277356 | 365 | M>L | No | Ensembl | |
rs1184714978 | 366 | K>E | No |
TOPMed gnomAD |
|
rs1038100147 | 368 | K>* | No | TOPMed | |
TCGA novel | 368 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2073180535 | 368 | K>R | No | Ensembl | |
rs1348110877 | 369 | Q>* | No |
TOPMed gnomAD |
|
rs1433252712 | 371 | Q>* | No |
TOPMed gnomAD |
|
rs762400651 | 372 | R>C | No |
ExAC TOPMed gnomAD |
|
rs762400651 | 372 | R>G | No |
ExAC TOPMed gnomAD |
|
rs190851894 | 372 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 372 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs764518013 | 375 | Q>* | No | ExAC | |
rs952907088 | 377 | E>K | No | Ensembl | |
COSM4063852 | 378 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs770448071 | 379 | D>A | No |
ExAC TOPMed gnomAD |
|
rs770448071 | 379 | D>G | No |
ExAC TOPMed gnomAD |
|
rs774072533 | 379 | D>N | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 380 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1567722071 | 385 | D>E | No | Ensembl | |
COSM75509 | 386 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1222144547 | 387 | A>T | No | gnomAD | |
rs536197822 | 388 | A>T | No | Ensembl | |
rs1320620513 | 388 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
COSM3795262 rs752939333 |
390 | L>V | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs1406576674 | 391 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1365542369 | 391 | Q>L | No | gnomAD | |
rs2073176169 | 394 | N>S | No |
TOPMed gnomAD |
|
TCGA novel | 395 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2073176120 | 395 | S>F | No | gnomAD | |
rs766070255 | 397 | D>Y | No |
ExAC gnomAD |
|
rs765608278 | 399 | L>F | No | gnomAD | |
COSM4063851 | 400 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3513878 | 401 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 401 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs776579249 | 402 | L>F | No |
ExAC gnomAD |
|
rs140537021 | 402 | L>P | No |
ESP TOPMed gnomAD |
|
rs1416455931 | 403 | C>S | No |
TOPMed gnomAD |
|
rs2073175457 | 406 | R>T | No |
TOPMed gnomAD |
|
rs1254597602 | 407 | V>F | No | gnomAD | |
rs1254597602 | 407 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs2073175402 | 408 | K>Q | No | gnomAD | |
rs1567722024 | 409 | V>F | No | Ensembl | |
rs779697252 | 409 | V>G | No |
ExAC gnomAD |
|
rs746052766 | 410 | G>C | No |
ExAC TOPMed gnomAD |
|
rs746052766 | 410 | G>S | No |
ExAC TOPMed gnomAD |
|
rs779187565 | 412 | E>A | No |
ExAC gnomAD |
|
rs2142276849 | 412 | E>K | No | Ensembl | |
rs1273469457 | 413 | Y>C | No |
TOPMed gnomAD |
|
rs2073175152 | 414 | V>I | No | Ensembl | |
rs1340506905 | 416 | K>I | No | gnomAD | |
COSM3402591 | 417 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 418 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 420 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2142276807 | 420 | V>M | No | Ensembl | |
rs2142276702 | 423 | V>G | No | 1000Genomes | |
rs771746008 | 423 | V>L | No |
ExAC TOPMed gnomAD |
|
rs771746008 | 423 | V>M | No |
ExAC TOPMed gnomAD |
|
rs779312351 | 425 | N>H | No |
ExAC gnomAD |
|
rs1418933344 | 426 | A>E | No |
TOPMed gnomAD |
|
rs1567721951 | 427 | V>E | No | Ensembl | |
rs1567721951 | 427 | V>G | No | Ensembl | |
rs2073174183 | 427 | V>L | No | gnomAD | |
rs1299839118 | 428 | G>A | No |
TOPMed gnomAD |
|
rs201546675 | 428 | G>S | No | 1000Genomes | |
rs1272968601 | 432 | K>T | No | gnomAD | |
rs2073173874 | 433 | A>D | No | TOPMed | |
rs1178520223 | 433 | A>T | No | TOPMed | |
rs753113092 | 434 | V>I | No |
ExAC TOPMed gnomAD |
|
rs2073173729 | 435 | Y>C | No | TOPMed | |
rs117790102 | 435 | Y>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1269015927 | 436 | D>G | No |
TOPMed gnomAD |
|
rs200860839 | 436 | D>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs200860839 | 436 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1161226266 | 438 | M>I | No | gnomAD | |
rs1472853657 | 439 | F>L | No | gnomAD | |
TCGA novel rs2073173480 |
441 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
rs2073173406 | 442 | M>I | No | TOPMed | |
rs1220513343 | 442 | M>K | No | TOPMed | |
rs1336901771 | 442 | M>V | No | TOPMed | |
rs1597442379 | 443 | V>G | No | Ensembl | |
rs1411103529 | 444 | T>A | No | gnomAD | |
rs2073173323 | 444 | T>I | No | gnomAD | |
rs533193095 | 445 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM2925189 rs756887132 |
445 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
COSM975316 | 445 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs753450887 | 446 | I>F | No |
ExAC gnomAD |
|
rs1210591554 | 446 | I>T | No | Ensembl | |
rs1199471150 | 448 | Q>* | No | gnomAD | |
rs1489533536 | 449 | Q>H | No |
TOPMed gnomAD |
|
rs199687917 | 449 | Q>L | No |
ExAC gnomAD |
|
rs867780296 | 451 | D>N | No | gnomAD | |
rs775317133 | 452 | T>I | No |
ExAC gnomAD |
|
rs1194522202 | 452 | T>S | No |
TOPMed gnomAD |
|
COSM705108 | 453 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1479216 | 454 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073172956 | 455 | P>L | No |
TOPMed gnomAD |
|
rs771338447 | 457 | Q>* | No |
ExAC gnomAD |
|
rs771338447 | 457 | Q>K | No |
ExAC gnomAD |
|
rs773382684 | 458 | Y>H | No |
ExAC TOPMed gnomAD |
|
rs2073172801 | 459 | F>L | No | Ensembl | |
rs201061123 | 460 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
rs748218946 | 462 | V>A | No |
ExAC TOPMed gnomAD |
|
rs755206230 | 463 | L>V | No |
ExAC gnomAD |
|
COSM6145612 | 464 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1434386124 | 465 | I>F | No | TOPMed | |
rs2073172597 | 469 | E>Q | No | Ensembl | |
rs1156778148 | 472 | D>E | No | gnomAD | |
rs995033304 | 473 | F>Y | No | TOPMed | |
rs2073152802 | 474 | N>D | No | Ensembl | |
COSM3513877 | 475 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073152745 | 475 | S>T | No | Ensembl | |
rs748189214 | 476 | L>P | No |
ExAC gnomAD |
|
rs1425718790 | 477 | E>A | No |
TOPMed gnomAD |
|
rs373671972 | 477 | E>K | No |
ESP ExAC gnomAD |
|
rs377503297 | 478 | Q>H | No |
ESP ExAC TOPMed gnomAD |
|
rs1331550281 | 480 | C>Y | No |
TOPMed gnomAD |
|
rs2073152507 | 482 | N>Y | No | Ensembl | |
rs202061954 | 484 | T>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs139784755 | 485 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 486 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2073152393 | 486 | E>K | No | TOPMed | |
rs1229351905 | 487 | K>E | No | gnomAD | |
COSM6080131 | 490 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM6080132 | 490 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1005284317 | 494 | H>D | No | gnomAD | |
rs777299446 | 495 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
COSM1290629 rs746953606 |
496 | M>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated Ensembl |
rs752209461 | 497 | F>L | No |
ExAC gnomAD |
|
rs1322810334 | 497 | F>S | No | gnomAD | |
rs1825286196 | 497 | F>V | No | gnomAD | |
rs534998190 | 498 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM3513876 | 500 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073151869 | 501 | Q>E | No | Ensembl | |
rs1597441413 | 502 | E>D | No | TOPMed | |
COSM3513875 | 502 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073151792 | 503 | E>* | No | TOPMed | |
rs751520223 | 503 | E>V | No |
ExAC TOPMed gnomAD |
|
rs766370836 | 504 | Y>* | No |
ExAC gnomAD |
|
rs2073151681 | 504 | Y>N | No | Ensembl | |
rs1166569541 | 505 | K>N | No | gnomAD | |
rs900438166 | 505 | K>Q | No | Ensembl | |
rs762659426 | 506 | K>E | No | ExAC | |
rs1042855595 | 507 | E>K | No | Ensembl | |
rs372408756 | 508 | G>D | No |
ESP ExAC TOPMed gnomAD |
|
rs1346250357 | 509 | I>F | No | TOPMed | |
rs372925604 | 509 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
rs2073151200 | 511 | W>* | No | gnomAD | |
COSM705111 | 511 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs776728359 | 511 | W>G | No |
ExAC TOPMed gnomAD |
|
COSM705109 rs2073151226 |
511 | W>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
rs776728359 | 511 | W>R | No |
ExAC TOPMed gnomAD |
|
rs565383342 | 512 | T>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs776005002 | 514 | I>T | No |
ExAC gnomAD |
|
rs867415657 | 514 | I>V | No | Ensembl | |
rs866196539 | 515 | D>N | No | Ensembl | |
rs1345367913 | 516 | F>C | No | gnomAD | |
rs1220800552 | 516 | F>V | No | gnomAD | |
rs2073150947 | 518 | M>I | No | TOPMed | |
rs1597441375 | 519 | D>G | No | Ensembl | |
rs2073150919 | 519 | D>H | No | Ensembl | |
COSM5851791 | 519 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM975313 | 522 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs746235150 | 523 | C>F | No |
ExAC gnomAD |
|
rs779325362 | 524 | I>F | No |
ExAC TOPMed gnomAD |
|
rs747807644 | 524 | I>M | No |
ExAC TOPMed gnomAD |
|
rs988546710 | 524 | I>N | No | TOPMed | |
rs988546710 | 524 | I>T | No | TOPMed | |
rs150654605 COSM4704491 |
525 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1416523252 | 526 | L>F | No | gnomAD | |
rs1403284365 | 526 | L>P | No | gnomAD | |
rs1479765201 | 527 | I>T | No | gnomAD | |
rs754559329 | 527 | I>V | No |
ExAC TOPMed gnomAD |
|
rs147337790 | 528 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM3402590 rs369732205 |
529 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
rs369732205 | 529 | K>N | No |
ESP ExAC |
|
rs1457291189 | 529 | K>R | No | TOPMed | |
rs923451996 | 531 | M>I | No |
TOPMed gnomAD |
|
rs758306609 | 531 | M>L | No |
ExAC gnomAD |
|
rs758306609 | 531 | M>V | No |
ExAC gnomAD |
|
rs140181645 | 532 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1021554310 | 533 | I>L | No | Ensembl | |
COSM3513873 | 535 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs367773958 | 536 | I>N | No |
ESP ExAC |
|
rs367773958 | 536 | I>T | No |
ESP ExAC |
|
rs2073141353 | 536 | I>V | No | gnomAD | |
rs375188892 | 537 | L>V | No |
ESP gnomAD |
|
rs1379354500 | 540 | E>A | No |
TOPMed gnomAD |
|
rs147545214 | 540 | E>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs752844108 | 542 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1321828347 | 542 | M>L | No | gnomAD | |
rs2073141030 | 543 | F>* | No | Ensembl | |
rs2073140911 | 544 | P>H | No | Ensembl | |
rs955965546 | 544 | P>S | No |
TOPMed gnomAD |
|
rs955965546 | 544 | P>T | No |
TOPMed gnomAD |
|
rs2073140696 | 545 | K>N | No | Ensembl | |
rs2073140656 | 546 | A>P | No | Ensembl | |
rs772912091 | 546 | A>V | No |
ExAC TOPMed gnomAD |
|
rs2073140474 | 547 | T>P | No | TOPMed | |
COSM98092 rs2142272503 |
549 | T>I | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated Ensembl |
rs142687435 | 550 | S>F | No |
ESP ExAC gnomAD |
|
rs768487061 | 552 | K>M | No |
ExAC TOPMed gnomAD |
|
COSM975311 | 552 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs768487061 | 552 | K>R | No |
ExAC TOPMed gnomAD |
|
rs746628096 | 553 | N>D | No |
ExAC TOPMed gnomAD |
|
rs1289154019 | 555 | L>P | No | gnomAD | |
rs1212744110 | 556 | Y>F | No |
TOPMed gnomAD |
|
COSM975310 | 557 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs774908221 | 558 | Q>* | No | ExAC | |
rs1485907130 | 558 | Q>H | No | gnomAD | |
rs774908221 | 558 | Q>K | No | ExAC | |
rs771631959 | 559 | H>L | No |
ExAC TOPMed gnomAD |
|
rs771631959 | 559 | H>R | No |
ExAC TOPMed gnomAD |
|
rs2142272451 | 559 | H>Y | No | Ensembl | |
COSM975309 | 560 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1169015833 | 561 | G>E | No |
TOPMed gnomAD |
|
rs778911069 | 562 | K>N | No |
ExAC TOPMed gnomAD |
|
rs1295800853 | 564 | N>S | No | gnomAD | |
rs777543540 | 565 | N>D | No |
ExAC gnomAD |
|
rs2142272410 | 565 | N>K | No | Ensembl | |
rs1597440984 | 565 | N>T | No | Ensembl | |
rs1597440980 | 566 | F>S | No | Ensembl | |
rs138632167 | 567 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
rs199899730 | 569 | P>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs199899730 | 569 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs755117063 | 570 | K>N | No |
ExAC TOPMed gnomAD |
|
rs2073139573 | 570 | K>R | No |
TOPMed gnomAD |
|
rs2073139501 | 571 | P>L | No | TOPMed | |
rs2073139501 | 571 | P>R | No | TOPMed | |
rs1426510996 | 572 | A>S | No | gnomAD | |
rs935796944 | 572 | A>V | No | TOPMed | |
COSM3513871 | 574 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073139380 | 575 | K>R | No | TOPMed | |
rs751527881 | 576 | P>S | No |
ExAC TOPMed gnomAD |
|
rs1446734945 | 577 | E>A | No |
TOPMed gnomAD |
|
rs2073139212 | 577 | E>D | No | Ensembl | |
rs766967916 | 577 | E>K | No |
ExAC TOPMed gnomAD |
|
rs766967916 | 577 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs2073139187 | 578 | A>T | No | TOPMed | |
rs368074798 | 579 | H>P | No |
ESP ExAC TOPMed gnomAD |
|
rs1206647156 | 579 | H>Q | No |
TOPMed gnomAD |
|
rs1038025039 | 580 | F>L | No | Ensembl | |
rs773749815 | 583 | I>V | No |
ExAC TOPMed gnomAD |
|
rs2073138814 | 584 | H>D | No | Ensembl | |
rs1227247563 COSM1380795 |
584 | H>R | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
rs762216903 | 586 | A>V | No |
ExAC gnomAD |
|
rs775236846 | 588 | T>I | No |
ExAC TOPMed gnomAD |
|
rs769065198 | 589 | V>L | No |
ExAC TOPMed gnomAD |
|
rs769065198 COSM5637069 |
589 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs2073138540 | 590 | D>N | No | gnomAD | |
rs867265572 | 591 | Y>* | No | Ensembl | |
rs773725350 | 593 | I>T | No |
ExAC gnomAD |
|
COSM975307 | 594 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 595 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs777594879 | 595 | G>S | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 596 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1176738984 | 596 | W>C | No | gnomAD | |
rs1432559597 | 597 | L>P | No | gnomAD | |
rs769601629 | 598 | D>E | No |
ExAC gnomAD |
|
rs2073138183 | 599 | K>E | No | TOPMed | |
rs2073138157 | 601 | K>* | No | gnomAD | |
rs371230914 | 601 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
rs1296768683 | 602 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs781481622 | 603 | P>R | No |
ExAC gnomAD |
|
rs751728021 | 605 | N>H | No |
ExAC gnomAD |
|
rs201537308 | 607 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs551729377 | 608 | V>A | No | 1000Genomes | |
rs759021922 | 609 | V>M | No |
ExAC TOPMed gnomAD |
|
rs750986931 | 610 | G>V | No |
ExAC TOPMed gnomAD |
|
rs1351115974 | 613 | Q>* | No | gnomAD | |
rs2073137651 | 614 | K>R | No | TOPMed | |
rs933592567 | 615 | S>A | No | TOPMed | |
COSM1736589 | 615 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs933592567 | 615 | S>P | No | TOPMed | |
rs1306585371 | 616 | A>S | No | gnomAD | |
rs1306585371 | 616 | A>T | No | gnomAD | |
TCGA novel | 616 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs762268159 | 617 | M>K | No |
ExAC TOPMed gnomAD |
|
rs762268159 | 617 | M>T | No |
ExAC TOPMed gnomAD |
|
rs143881545 | 617 | M>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs749595904 | 618 | K>* | No | Ensembl | |
rs1346318399 | 620 | L>P | No | gnomAD | |
rs538946965 | 621 | A>G | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 622 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1403907727 | 622 | L>V | No | gnomAD | |
COSM3513870 | 623 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1179262883 | 624 | F>L | No | gnomAD | |
rs1319543285 | 624 | F>S | No | TOPMed | |
rs1256405555 | 625 | V>A | No |
TOPMed gnomAD |
|
rs914683930 | 625 | V>I | No | Ensembl | |
rs770408863 | 627 | A>P | No |
ExAC gnomAD |
|
rs770408863 | 627 | A>S | No |
ExAC gnomAD |
|
rs2073136909 | 627 | A>V | No |
TOPMed gnomAD |
|
rs756564704 | 628 | T>A | No | Ensembl | |
rs200312088 | 628 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
rs200312088 | 628 | T>R | No |
ESP ExAC TOPMed gnomAD |
|
rs1188976058 | 630 | A>S | No |
TOPMed gnomAD |
|
rs1188976058 | 630 | A>T | No |
TOPMed gnomAD |
|
rs372571825 | 630 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1281465772 COSM975305 |
633 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs1308112523 | 634 | A>P | No | TOPMed | |
rs1422403636 | 635 | G>V | No | gnomAD | |
rs2073129984 | 636 | G>D | No | Ensembl | |
rs112395269 | 636 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs745999842 | 637 | G>E | No |
ExAC TOPMed gnomAD |
|
rs757824918 | 639 | K>I | No | ExAC | |
rs150346984 VAR_054159 |
640 | G>S | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2073129727 | 641 | G>S | No | Ensembl | |
rs1291632630 | 642 | K>E | No | TOPMed | |
rs1207304026 | 642 | K>N | No | TOPMed | |
rs1357972986 | 642 | K>R | No | TOPMed | |
rs2073129522 | 643 | K>* | No | Ensembl | |
COSM4827002 COSM705114 rs1233541338 |
643 | K>N | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs2073129410 | 645 | G>C | No | gnomAD | |
rs375730580 | 645 | G>D | No |
ESP ExAC TOPMed gnomAD |
|
rs2073129410 | 645 | G>R | No | gnomAD | |
COSM705115 | 646 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1268365207 | 649 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs756466287 | 650 | T>A | No |
ExAC TOPMed gnomAD |
|
rs756466287 | 650 | T>S | No |
ExAC TOPMed gnomAD |
|
rs1383230275 | 651 | V>L | No | Ensembl | |
rs140357724 | 653 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
rs140357724 | 653 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs2073128957 | 654 | L>V | No | TOPMed | |
rs1326483360 | 658 | N>S | No |
TOPMed gnomAD |
|
rs760654103 | 660 | N>K | No |
ExAC gnomAD |
|
rs1398868794 | 661 | K>* | No | TOPMed | |
rs1348174597 | 663 | M>L | No | gnomAD | |
rs1285591560 | 664 | T>A | No | gnomAD | |
rs200937599 | 664 | T>I | No |
ExAC TOPMed gnomAD |
|
rs200937599 | 664 | T>N | No |
ExAC TOPMed gnomAD |
|
rs774749073 | 665 | N>K | No |
ExAC TOPMed gnomAD |
|
rs2073109682 | 665 | N>S | No | TOPMed | |
rs1230047948 | 666 | L>S | No |
TOPMed gnomAD |
|
rs1225671412 | 671 | P>A | No |
TOPMed gnomAD |
|
rs1225671412 | 671 | P>T | No |
TOPMed gnomAD |
|
RCV001311867 rs371872450 |
672 | H>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
rs1199218668 | 672 | H>P | No | TOPMed | |
rs1199218668 | 672 | H>R | No | TOPMed | |
rs371872450 | 672 | H>Y | No |
ESP ExAC TOPMed gnomAD |
|
rs2142268843 | 673 | F>L | No | Ensembl | |
rs773331408 | 674 | V>M | No |
ExAC gnomAD |
|
rs748630503 | 675 | R>L | No |
ExAC gnomAD |
|
rs748630503 | 675 | R>Q | No |
ExAC gnomAD |
|
rs138745330 | 675 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2073109042 | 676 | C>S | No |
TOPMed gnomAD |
|
rs2073109003 | 676 | C>Y | No | Ensembl | |
rs2073108954 | 677 | I>T | No | Ensembl | |
rs2073108916 | 679 | P>T | No | gnomAD | |
rs144853441 | 680 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM4404053 | 681 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs747307206 | 682 | T>I | No |
ExAC gnomAD |
|
rs1261225360 | 684 | T>A | No | Ensembl | |
COSM1135869 rs756916468 |
685 | P>A | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs2073108605 | 685 | P>L | No | gnomAD | |
rs756916468 | 685 | P>S | No |
ExAC gnomAD |
|
rs2073107223 | 686 | G>D | No | gnomAD | |
rs2073108571 | 686 | G>S | No | TOPMed | |
rs142560385 | 687 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1193707520 | 688 | M>R | No |
TOPMed gnomAD |
|
rs1193707520 | 688 | M>T | No |
TOPMed gnomAD |
|
rs73974725 | 688 | M>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs752192495 | 689 | E>* | No |
ExAC TOPMed gnomAD |
|
rs781292832 | 689 | E>G | No |
ExAC gnomAD |
|
COSM3818796 | 689 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs754953188 | 690 | H>P | No |
ExAC gnomAD |
|
rs751378637 | 691 | E>K | No |
ExAC TOPMed gnomAD |
|
rs766168023 | 692 | L>P | No |
ExAC TOPMed gnomAD |
|
rs758077813 | 693 | V>A | No |
ExAC TOPMed gnomAD |
|
rs1431415427 | 695 | H>Q | No | gnomAD | |
COSM3818795 | 696 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073106564 | 696 | Q>H | No | Ensembl | |
rs1597439612 | 697 | L>V | No | Ensembl | |
COSM6080135 COSM559877 rs1456972136 |
698 | R>M | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs1354857760 | 699 | C>* | No | gnomAD | |
rs1266969246 | 699 | C>Y | No | TOPMed | |
COSM975304 | 701 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs979734675 | 701 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
TCGA novel | 701 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs761894427 | 702 | V>A | No |
ExAC TOPMed gnomAD |
|
rs761894427 | 702 | V>G | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 703 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs149164396 | 704 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1020787646 | 705 | G>C | No |
TOPMed gnomAD |
|
rs1020787646 | 705 | G>S | No |
TOPMed gnomAD |
|
rs1183830377 | 707 | R>C | No |
TOPMed gnomAD |
|
rs374217459 COSM1380794 |
707 | R>H | large_intestine [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs374217459 | 707 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs1240012622 | 709 | C>F | No |
TOPMed gnomAD |
|
rs2073106002 | 709 | C>G | No |
TOPMed gnomAD |
|
rs2073105893 | 715 | S>G | No | TOPMed | |
rs1306328517 | 715 | S>N | No | gnomAD | |
rs746180898 | 717 | I>N | No |
ExAC gnomAD |
|
rs769516692 COSM975303 |
718 | L>F | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs747719067 | 719 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs1361617008 COSM359061 |
720 | A>S | lung [Cosmic] | No |
cosmic curated TOPMed |
rs1393397619 | 720 | A>V | No | gnomAD | |
rs1265013833 | 722 | F>V | No |
TOPMed gnomAD |
|
rs755008115 | 723 | K>E | No |
ExAC TOPMed gnomAD |
|
rs755008115 | 723 | K>Q | No |
ExAC TOPMed gnomAD |
|
rs1033462460 | 724 | Q>* | No | TOPMed | |
COSM6145613 | 724 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073102575 | 726 | Y>* | No | gnomAD | |
rs2142268038 | 726 | Y>C | No | Ensembl | |
rs2073102599 | 726 | Y>H | No | TOPMed | |
rs2073102453 | 727 | K>E | No | Ensembl | |
rs746435775 | 727 | K>R | No |
ExAC gnomAD |
|
rs780052499 | 728 | V>M | No |
ExAC gnomAD |
|
rs1567719298 | 729 | L>S | No | Ensembl | |
rs1415451981 | 730 | N>H | No | TOPMed | |
COSM705116 | 731 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1175917365 | 732 | S>G | No | TOPMed | |
rs1301973657 | 732 | S>N | No | gnomAD | |
rs745737768 | 733 | A>V | No |
ExAC gnomAD |
|
rs1244962696 | 734 | I>S | No | gnomAD | |
rs757516272 | 735 | P>L | No |
ExAC TOPMed gnomAD |
|
COSM436002 | 736 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM232833 | 737 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1046390026 | 737 | G>R | No |
TOPMed gnomAD |
|
rs367944634 | 738 | Q>K | No |
ESP ExAC TOPMed gnomAD |
|
rs919495648 | 740 | I>F | No |
TOPMed gnomAD |
|
rs919495648 | 740 | I>V | No |
TOPMed gnomAD |
|
rs1365795333 | 741 | D>G | No | gnomAD | |
rs756226304 | 741 | D>H | No |
ExAC TOPMed gnomAD |
|
COSM975302 rs756226304 |
741 | D>N | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1217321021 | 742 | S>G | No | Ensembl | |
rs1164688059 | 743 | K>T | No |
TOPMed gnomAD |
|
rs183833836 | 744 | K>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1361512941 | 745 | A>T | No |
TOPMed gnomAD |
|
rs141034409 | 753 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
COSM75508 | 754 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1380792 rs1429228181 |
754 | D>Y | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
rs752011839 | 755 | I>N | No |
ExAC gnomAD |
|
rs377402025 | 756 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
rs766830465 | 756 | D>H | No |
ExAC TOPMed gnomAD |
|
rs1417960436 | 757 | H>Q | No | TOPMed | |
rs768134420 | 757 | H>Y | No |
ExAC TOPMed |
|
rs2073101400 | 758 | T>I | No | Ensembl | |
COSM705117 | 758 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1292781510 | 759 | Q>* | No | gnomAD | |
rs1292781510 | 759 | Q>E | No | gnomAD | |
rs2073101321 | 760 | Y>H | No | Ensembl | |
rs1221471058 | 761 | K>E | No | gnomAD | |
COSM975301 | 761 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1029861603 | 764 | H>D | No | TOPMed | |
rs2073101196 | 766 | K>R | No | gnomAD | |
rs1274907486 | 767 | V>A | No | gnomAD | |
rs752137123 | 767 | V>F | No |
ExAC TOPMed gnomAD |
|
rs752137123 | 767 | V>I | No |
ExAC TOPMed gnomAD |
|
rs752137123 | 767 | V>L | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 768 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs766924649 | 768 | F>S | No |
ExAC gnomAD |
|
rs2142267646 | 769 | F>L | No | Ensembl | |
rs763422352 | 769 | F>S | No |
ExAC TOPMed gnomAD |
|
COSM6080137 | 771 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1323558715 | 771 | A>V | No | gnomAD | |
rs2073099354 | 773 | L>F | No | TOPMed | |
rs1321872869 | 773 | L>P | No | TOPMed | |
rs763873515 | 774 | L>Q | No |
ExAC gnomAD |
|
rs2073099223 | 775 | G>R | No | gnomAD | |
rs756126283 | 775 | G>V | No |
ExAC TOPMed gnomAD |
|
COSM3513863 | 776 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM705119 rs929288456 |
777 | L>P | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs929288456 | 777 | L>Q | No |
TOPMed gnomAD |
|
rs929288456 | 777 | L>R | No |
TOPMed gnomAD |
|
rs2073098910 | 779 | E>D | No | TOPMed | |
rs1471012349 | 779 | E>K | No | gnomAD | |
COSM4918364 | 780 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs750331285 | 781 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
COSM3513862 rs202103660 |
781 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
COSM3513861 rs267604714 |
782 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP NCI-TCGA TOPMed |
rs1597439226 | 782 | D>V | No | Ensembl | |
rs544727463 | 783 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1274700626 | 783 | E>K | No |
TOPMed gnomAD |
|
rs748297615 | 784 | K>N | No |
ExAC TOPMed gnomAD |
|
rs1320396894 | 784 | K>T | No |
TOPMed gnomAD |
|
rs960631123 | 785 | L>M | No | TOPMed | |
rs781428390 | 786 | A>G | No |
ExAC gnomAD |
|
COSM3513859 | 787 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073098504 | 787 | Q>K | No | TOPMed | |
COSM347877 rs141650085 |
788 | L>M | lung [Cosmic] | No |
cosmic curated ESP TOPMed |
rs2073098448 | 790 | T>A | No | TOPMed | |
rs1205439874 | 790 | T>N | No | gnomAD | |
rs148002944 | 791 | R>* | No |
ESP ExAC TOPMed gnomAD |
|
COSM3402589 rs780763560 |
791 | R>Q | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1567719046 | 793 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
COSM272979 rs1240226033 |
794 | A>D | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs1240226033 | 794 | A>G | No | gnomAD | |
rs750853325 COSM124588 |
794 | A>T | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
COSM975298 | 794 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2142267480 | 795 | M>I | No | Ensembl | |
rs2073098122 | 795 | M>L | No | TOPMed | |
rs1335499154 | 795 | M>R | No |
TOPMed gnomAD |
|
rs1335499154 | 795 | M>T | No |
TOPMed gnomAD |
|
rs2073098059 | 796 | C>R | No | TOPMed | |
rs1329951474 | 797 | R>K | No | gnomAD | |
rs1426087895 | 798 | G>R | No | TOPMed | |
rs1407451831 COSM975297 |
799 | F>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
rs2142267455 | 803 | V>A | No | 1000Genomes | |
rs2073097827 | 805 | Y>H | No | TOPMed | |
rs752321678 | 806 | Q>H | No |
ExAC TOPMed gnomAD |
|
rs2073097705 | 806 | Q>K | No | Ensembl | |
rs1469465697 | 806 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1397921490 | 807 | K>Q | No |
TOPMed gnomAD |
|
rs767133592 | 808 | M>K | No |
ExAC TOPMed gnomAD |
|
rs767133592 | 808 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
COSM975296 rs1687055161 |
809 | V>M | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
rs759061526 | 810 | E>* | No |
ExAC TOPMed gnomAD |
|
rs2073097379 | 810 | E>A | No |
TOPMed gnomAD |
|
TCGA novel | 811 | R>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3889245 | 811 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1339318881 | 812 | R>I | No |
TOPMed gnomAD |
|
rs1339318881 | 812 | R>K | No |
TOPMed gnomAD |
|
rs191339081 | 813 | E>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs191339081 | 813 | E>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs200251900 | 813 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs200251900 | 813 | E>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs191339081 | 813 | E>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM6145614 | 814 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1227146869 | 816 | F>I | No |
TOPMed gnomAD |
|
rs1227146869 | 816 | F>V | No |
TOPMed gnomAD |
|
rs765157307 | 817 | C>F | No |
ExAC gnomAD |
|
rs1338721240 | 821 | N>D | No |
TOPMed gnomAD |
|
rs775806131 | 822 | V>A | No |
ExAC gnomAD |
|
rs747212620 | 822 | V>I | No |
ExAC TOPMed gnomAD |
|
rs772308871 COSM472280 |
823 | R>C | kidney [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
COSM1135868 rs745892725 |
823 | R>H | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs906380475 | 824 | A>T | No | Ensembl | |
rs2073095635 | 824 | A>V | No | Ensembl | |
COSM4537889 | 826 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs913880034 | 826 | M>V | No |
TOPMed gnomAD |
|
rs2073095542 | 827 | N>T | No | TOPMed | |
rs534110923 | 832 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs534110923 | 832 | P>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1216140800 | 834 | M>I | No |
TOPMed gnomAD |
|
rs1199637751 | 834 | M>T | No | gnomAD | |
rs576225320 | 835 | K>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs576225320 | 835 | K>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs751228411 | 836 | L>V | No |
TOPMed gnomAD |
|
rs779644886 | 837 | Y>* | No |
ExAC TOPMed gnomAD |
|
rs150821492 | 837 | Y>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs754679000 | 837 | Y>C | No |
ExAC gnomAD |
|
TCGA novel | 837 | Y>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs866841838 | 838 | F>L | No | Ensembl | |
rs2142267050 | 839 | K>E | No | Ensembl | |
rs1309851277 | 841 | K>N | No |
TOPMed gnomAD |
|
rs757853121 | 842 | P>R | No |
ExAC gnomAD |
|
COSM3513855 rs1567718869 |
842 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs557826774 | 843 | L>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1285464599 | 845 | K>N | No | gnomAD | |
rs368592662 | 845 | K>T | No | ESP | |
rs2073094674 | 846 | S>G | No | TOPMed | |
COSM3513854 | 846 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073094640 | 847 | A>S | No | Ensembl | |
rs765152355 | 848 | E>* | No |
ExAC gnomAD |
|
rs2073094541 | 849 | T>R | No | TOPMed | |
TCGA novel | 850 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM4836026 | 850 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073094513 | 851 | K>E | No | TOPMed | |
rs761774573 | 854 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs34561163 | 855 | N>H | No | Ensembl | |
rs764002814 | 856 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1567718839 | 856 | M>T | No | Ensembl | |
COSM340458 rs1392435608 |
856 | M>V | lung [Cosmic] | No |
cosmic curated TOPMed |
rs2073094105 | 857 | K>N | No | TOPMed | |
rs112853460 | 858 | E>* | No | gnomAD | |
rs112853460 COSM1709867 |
858 | E>K | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs775857717 | 859 | E>* | No |
ExAC gnomAD |
|
rs2073093906 | 860 | F>C | No | TOPMed | |
rs2073093939 | 860 | F>L | No | TOPMed | |
rs1232705158 | 861 | E>K | No | Ensembl | |
rs1430838166 | 862 | K>E | No | gnomAD | |
rs772360342 | 862 | K>T | No |
ExAC gnomAD |
|
rs759853754 | 863 | T>S | No | Ensembl | |
TCGA novel | 865 | E>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs759594439 | 865 | E>K | No |
ExAC gnomAD |
|
rs759594439 | 865 | E>Q | No |
ExAC gnomAD |
|
rs1312165523 | 866 | E>V | No | TOPMed | |
TCGA novel | 867 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1239518689 | 867 | L>P | No | gnomAD | |
rs774486430 | 869 | K>R | No |
ExAC TOPMed gnomAD |
|
COSM5851789 | 870 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1233991273 | 870 | T>S | No | gnomAD | |
COSM3513853 rs771382343 |
871 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs2073093364 | 873 | K>N | No |
TOPMed gnomAD |
|
rs2073093333 | 875 | K>R | No | Ensembl | |
rs2073093299 | 876 | E>D | No | TOPMed | |
COSM3513851 | 878 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1311902430 | 879 | E>V | No | gnomAD | |
rs1299388159 | 880 | K>E | No |
TOPMed gnomAD |
|
rs2073093154 | 880 | K>N | No | gnomAD | |
rs2073093177 | 880 | K>T | No | TOPMed | |
rs145689977 | 881 | M>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
TCGA novel | 881 | M>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs770179644 | 881 | M>T | No |
ExAC gnomAD |
|
TCGA novel | 881 | M>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs779697574 | 882 | V>A | No |
ExAC TOPMed gnomAD |
|
rs879216140 | 882 | V>F | No | gnomAD | |
rs1451564926 | 883 | T>I | No |
TOPMed gnomAD |
|
rs1451564926 | 883 | T>S | No |
TOPMed gnomAD |
|
rs1336892541 | 884 | L>P | No | gnomAD | |
rs1468770024 | 885 | M>K | No | gnomAD | |
rs550672109 | 886 | Q>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2073092762 | 887 | E>* | No |
TOPMed gnomAD |
|
rs778459618 | 887 | E>G | No |
ExAC TOPMed gnomAD |
|
rs756672201 | 888 | K>E | No |
ExAC TOPMed gnomAD |
|
COSM2925144 rs776259351 |
889 | N>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
rs1409226689 | 889 | N>S | No | gnomAD | |
rs531649678 | 892 | Q>* | No |
1000Genomes ExAC gnomAD |
|
rs2073092522 | 892 | Q>H | No | TOPMed | |
rs764055730 | 892 | Q>P | No |
ExAC gnomAD |
|
rs567553961 | 893 | L>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1254514196 | 897 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1254514196 | 897 | A>S | No |
TOPMed gnomAD |
|
rs796646379 | 901 | S>N | No |
TOPMed gnomAD |
|
rs777913323 | 901 | S>R | No |
ExAC TOPMed gnomAD |
|
rs756117755 | 902 | L>M | No |
ExAC gnomAD |
|
rs1297175840 | 904 | D>N | No |
TOPMed gnomAD |
|
rs1382298533 | 904 | D>V | No |
TOPMed gnomAD |
|
rs1339454021 | 905 | A>E | No | gnomAD | |
rs1461968586 | 905 | A>P | No |
TOPMed gnomAD |
|
rs2073076430 | 907 | E>K | No | gnomAD | |
TCGA novel | 908 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs931734439 | 910 | D>G | No | Ensembl | |
rs370123454 | 911 | Q>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1312512718 | 911 | Q>H | No |
TOPMed gnomAD |
|
TCGA novel | 911 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1367891471 | 912 | L>I | No | gnomAD | |
TCGA novel | 912 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1353257321 | 915 | T>A | No | TOPMed | |
rs754681460 | 915 | T>I | No |
ExAC gnomAD |
|
rs535145335 | 916 | K>E | No | TOPMed | |
rs2073076150 | 917 | I>F | No | gnomAD | |
rs1457891606 | 917 | I>T | No | gnomAD | |
rs1220270808 | 918 | Q>E | No | TOPMed | |
TCGA novel | 920 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2073076069 | 920 | E>G | No | TOPMed | |
rs921701135 | 921 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs921701135 | 921 | A>T | No |
TOPMed gnomAD |
|
rs751842685 | 923 | I>V | No |
ExAC gnomAD |
|
TCGA novel | 924 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM398040 | 925 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1478155006 | 925 | E>K | No | gnomAD | |
rs763037112 | 926 | V>L | No |
ExAC TOPMed gnomAD |
|
rs763037112 | 926 | V>M | No |
ExAC TOPMed gnomAD |
|
rs1269396681 | 927 | T>A | No | gnomAD | |
rs1330318042 | 927 | T>I | No | gnomAD | |
rs762283216 | 929 | R>G | No |
ExAC TOPMed gnomAD |
|
rs2073075551 | 930 | A>D | No | TOPMed | |
rs1252938241 | 930 | A>P | No | gnomAD | |
rs1316698013 | 931 | E>K | No | gnomAD | |
rs1597438357 | 932 | D>V | No | Ensembl | |
rs1255003746 | 933 | E>Q | No |
TOPMed gnomAD |
|
TCGA novel | 935 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs138643505 | 935 | E>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs144786039 TCGA novel |
935 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ESP ExAC TOPMed gnomAD |
rs2073075243 | 937 | N>D | No | TOPMed | |
rs747269553 | 937 | N>K | No |
ExAC gnomAD |
|
rs1428439015 | 937 | N>S | No | TOPMed | |
rs1386497640 | 940 | L>V | No | gnomAD | |
rs141065290 | 942 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 944 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs748876443 | 945 | R>T | No |
ExAC gnomAD |
|
rs1423060191 | 946 | K>E | No | gnomAD | |
rs2073074925 | 947 | L>R | No | TOPMed | |
rs2073074906 | 948 | E>K | No | TOPMed | |
rs1173205677 | 949 | D>N | No | TOPMed | |
rs756170551 | 950 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs748120241 | 951 | C>R | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 953 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1252607522 | 954 | L>R | No | gnomAD | |
COSM262196 | 955 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs751257892 | 957 | D>G | No |
ExAC TOPMed gnomAD |
|
rs754811330 | 957 | D>H | No |
ExAC TOPMed gnomAD |
|
rs1224810274 | 959 | D>E | No |
TOPMed gnomAD |
|
rs766684228 | 961 | L>F | No |
ExAC TOPMed gnomAD |
|
rs766684228 | 961 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs758585107 | 962 | E>Q | No |
ExAC gnomAD |
|
rs2073074338 | 963 | L>R | No | Ensembl | |
rs750549444 | 963 | L>V | No |
ExAC TOPMed gnomAD |
|
rs201366901 | 964 | T>I | No | 1000Genomes | |
rs1448230822 | 965 | L>M | No | gnomAD | |
rs765319561 | 966 | A>P | No |
ExAC gnomAD |
|
rs1329471166 | 968 | V>A | No |
TOPMed gnomAD |
|
rs199528686 | 968 | V>I | No | Ensembl | |
rs931861936 | 969 | E>K | No | TOPMed | |
rs1470960697 | 970 | K>E | No | gnomAD | |
COSM5938397 | 971 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs761837288 | 973 | H>R | No |
ExAC gnomAD |
|
rs1403199725 | 973 | H>Y | No |
TOPMed gnomAD |
|
TCGA novel | 974 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs956956281 | 974 | A>V | No | TOPMed | |
rs777198468 | 975 | T>A | No |
ExAC TOPMed gnomAD |
|
rs1274787748 | 978 | K>N | No |
TOPMed gnomAD |
|
rs963310758 | 979 | V>M | No | Ensembl | |
rs199775273 | 983 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs758137986 | 984 | E>G | No |
ExAC TOPMed gnomAD |
|
rs1473066924 | 985 | E>G | No | gnomAD | |
rs1473066924 | 985 | E>V | No | gnomAD | |
rs1236438696 | 986 | M>T | No | gnomAD | |
rs2073073021 | 987 | A>T | No | Ensembl | |
rs1184763135 | 987 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
COSM341081 | 988 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs779036939 | 988 | G>D | No | ExAC | |
rs1286207500 | 988 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs757342464 | 989 | L>R | No | ExAC | |
COSM6145615 | 990 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2142264746 | 990 | D>Y | No | Ensembl | |
COSM5722556 | 991 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs563867561 | 992 | T>I | No |
1000Genomes ExAC gnomAD |
|
rs563867561 | 992 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
rs996451682 | 993 | I>T | No | Ensembl | |
rs150191104 | 993 | I>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs867000141 | 998 | K>E | No | Ensembl | |
rs2073072597 | 998 | K>R | No | TOPMed | |
TCGA novel | 999 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 999 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1380508250 | 999 | E>Q | No | gnomAD | |
rs1374156374 | 1000 | K>R | No |
TOPMed gnomAD |
|
COSM1324185 | 1001 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1176123258 | 1002 | A>T | No | gnomAD | |
rs1328439228 | 1003 | L>F | No | gnomAD | |
rs1298975035 | 1004 | Q>* | No | gnomAD | |
rs1399199975 | 1004 | Q>R | No | gnomAD | |
COSM2925131 | 1005 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1455109130 | 1006 | A>P | No |
TOPMed gnomAD |
|
rs773007159 | 1006 | A>V | No |
ExAC gnomAD |
|
rs1166791650 | 1007 | H>Q | No |
1000Genomes TOPMed gnomAD |
|
rs761447230 | 1007 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1412973961 | 1008 | Q>E | No | gnomAD | |
COSM262195 | 1009 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1175572226 | 1010 | T>I | No | gnomAD | |
rs1175572226 | 1010 | T>N | No | gnomAD | |
rs746940411 | 1012 | D>N | No |
ExAC TOPMed gnomAD |
|
rs746940411 | 1012 | D>Y | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1013 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1261550377 | 1013 | D>V | No |
TOPMed gnomAD |
|
rs1322853824 | 1015 | Q>K | No | gnomAD | |
rs2142264588 | 1016 | A>S | No | Ensembl | |
rs553417822 | 1016 | A>V | No |
1000Genomes ExAC gnomAD |
|
rs745603827 | 1017 | E>A | No |
ExAC TOPMed gnomAD |
|
rs2073071504 | 1018 | E>K | No | TOPMed | |
TCGA novel | 1020 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1758255658 | 1021 | V>I | No | Ensembl | |
rs1597438130 | 1023 | T>N | No | Ensembl | |
TCGA novel | 1023 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1295495076 | 1024 | L>V | No | TOPMed | |
rs370896262 | 1025 | T>N | No |
ESP ExAC TOPMed gnomAD |
|
rs1436852727 | 1026 | K>Q | No |
TOPMed gnomAD |
|
rs768175190 | 1026 | K>T | No | Ensembl | |
rs2142264524 | 1031 | L>P | No | Ensembl | |
rs1213548552 | 1032 | E>Q | No | Ensembl | |
rs1349240600 | 1033 | Q>H | No |
TOPMed gnomAD |
|
rs2142264508 | 1035 | V>A | No | Ensembl | |
rs1411187766 | 1036 | D>N | No | gnomAD | |
rs1169320612 | 1037 | D>N | No | gnomAD | |
rs765051549 | 1038 | L>F | No |
ExAC TOPMed gnomAD |
|
rs1407869818 | 1039 | E>D | No | gnomAD | |
COSM3742076 rs2073062126 |
1040 | G>R | liver [Cosmic] | No |
cosmic curated TOPMed |
rs373478505 | 1041 | S>T | No |
ESP TOPMed |
|
COSM5956731 | 1041 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073062064 | 1042 | L>S | No | Ensembl | |
rs964983369 COSM1709864 |
1043 | E>K | skin [Cosmic] | No |
cosmic curated TOPMed |
rs964983369 | 1043 | E>Q | No | TOPMed | |
rs914529134 | 1044 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
COSM705121 | 1044 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 1045 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1597437724 | 1046 | K>N | No | Ensembl | |
rs776295792 | 1049 | R>L | No |
ExAC TOPMed gnomAD |
|
rs776295792 | 1049 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs1424967316 COSM705122 |
1049 | R>W | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs1190788105 | 1052 | L>I | No |
TOPMed gnomAD |
|
rs2073061728 | 1053 | E>Q | No | TOPMed | |
rs2073061604 | 1057 | R>G | No | TOPMed | |
rs763541728 | 1058 | K>R | No |
ExAC gnomAD |
|
rs1456464102 | 1059 | L>R | No | gnomAD | |
rs2073061491 | 1060 | E>D | No | Ensembl | |
rs2073061521 | 1060 | E>G | No | TOPMed | |
rs1211138881 | 1061 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs760161453 | 1061 | G>R | No |
ExAC gnomAD |
|
rs1276320644 | 1063 | L>I | No |
TOPMed gnomAD |
|
rs1241959216 | 1066 | A>V | No | gnomAD | |
rs1394527074 | 1067 | Q>R | No |
TOPMed gnomAD |
|
COSM975294 | 1068 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs775416426 | 1068 | E>D | No |
ExAC TOPMed gnomAD |
|
COSM227621 | 1069 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073061180 | 1071 | M>R | No | Ensembl | |
TCGA novel | 1071 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs771982771 COSM283010 |
1071 | M>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1224060220 | 1072 | D>H | No |
TOPMed gnomAD |
|
COSM436000 | 1072 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1224060220 | 1072 | D>Y | No |
TOPMed gnomAD |
|
COSM4063850 | 1074 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1443971953 | 1074 | E>D | No | gnomAD | |
rs1597437677 | 1074 | E>G | No | Ensembl | |
rs2073061113 | 1074 | E>K | No | TOPMed | |
rs2073061001 | 1077 | K>E | No | gnomAD | |
rs745728200 | 1079 | Q>* | No |
ExAC gnomAD |
|
COSM1128829 | 1079 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs774100076 | 1080 | L>F | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1080 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs774100076 | 1080 | L>V | No |
ExAC TOPMed gnomAD |
|
rs749496478 | 1081 | D>E | No |
ExAC gnomAD |
|
rs771235380 | 1081 | D>H | No |
ExAC TOPMed gnomAD |
|
rs1275632278 | 1082 | E>K | No | TOPMed | |
rs1421846869 | 1083 | K>M | No |
TOPMed gnomAD |
|
rs370765676 | 1084 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
rs1178526885 | 1085 | K>Q | No |
TOPMed gnomAD |
|
COSM3513846 | 1086 | K>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1262277285 | 1086 | K>N | No | gnomAD | |
rs756153366 | 1086 | K>R | No |
ExAC gnomAD |
|
rs866572427 | 1087 | K>E | No |
TOPMed gnomAD |
|
rs1255074677 | 1087 | K>I | No |
TOPMed gnomAD |
|
rs866572427 | 1087 | K>Q | No |
TOPMed gnomAD |
|
COSM283009 | 1088 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs749046590 | 1088 | E>K | No |
ExAC gnomAD |
|
TCGA novel | 1089 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1089 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2073059261 | 1091 | M>I | No | gnomAD | |
rs371969999 | 1092 | S>R | No |
ESP TOPMed gnomAD |
|
rs773320878 | 1093 | G>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2142263256 | 1093 | G>D | No | Ensembl | |
rs773320878 | 1093 | G>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs770046917 | 1095 | Q>K | No |
ExAC gnomAD |
|
COSM75507 | 1096 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073059117 | 1096 | S>R | No | Ensembl | |
rs748308691 | 1096 | S>T | No |
ExAC gnomAD |
|
rs781393011 | 1097 | K>N | No |
ExAC TOPMed gnomAD |
|
rs151057376 | 1098 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
rs987175366 COSM3513844 |
1099 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
rs2073058957 | 1100 | D>E | No |
TOPMed gnomAD |
|
rs200277513 | 1101 | E>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM3513843 | 1101 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs780638882 | 1102 | Q>P | No |
ExAC TOPMed gnomAD |
|
rs2073058845 | 1103 | A>G | No | Ensembl | |
rs758699196 | 1103 | A>T | No |
ExAC gnomAD |
|
rs1393538691 | 1104 | L>V | No | gnomAD | |
rs750782921 | 1105 | G>S | No |
ExAC TOPMed gnomAD |
|
rs1415831453 | 1106 | M>T | No |
TOPMed gnomAD |
|
rs763718834 | 1106 | M>V | No |
ExAC gnomAD |
|
rs755759148 | 1108 | L>M | No |
ExAC TOPMed gnomAD |
|
rs755759148 | 1108 | L>V | No |
ExAC TOPMed gnomAD |
|
COSM3957990 | 1109 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1478309572 | 1109 | Q>P | No |
TOPMed gnomAD |
|
rs2073058587 | 1110 | K>R | No | Ensembl | |
rs2073058564 | 1111 | K>* | No |
TOPMed gnomAD |
|
rs752253269 | 1111 | K>I | No |
ExAC TOPMed gnomAD |
|
COSM975292 | 1111 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073058434 | 1114 | E>D | No | Ensembl | |
rs2073058345 | 1115 | L>S | No | Ensembl | |
rs1420946432 | 1116 | Q>K | No |
TOPMed gnomAD |
|
rs1197892344 | 1117 | A>D | No |
TOPMed gnomAD |
|
rs1197892344 | 1117 | A>V | No |
TOPMed gnomAD |
|
rs762918988 COSM4704484 |
1118 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
COSM4141975 rs377745179 |
1118 | R>H | ovary [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs377745179 | 1118 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs147055712 | 1119 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1178772466 | 1119 | I>V | No |
TOPMed gnomAD |
|
rs777001761 | 1120 | E>G | No |
ExAC TOPMed gnomAD |
|
rs1187348100 | 1120 | E>K | No |
TOPMed gnomAD |
|
rs981295548 | 1121 | E>G | No |
TOPMed gnomAD |
|
rs2073056928 | 1121 | E>K | No | Ensembl | |
rs200140162 | 1122 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
rs921401620 | 1124 | E>G | No |
TOPMed gnomAD |
|
rs267604712 | 1124 | E>K | No |
TOPMed gnomAD |
|
rs267604712 | 1124 | E>Q | No |
TOPMed gnomAD |
|
COSM3513841 | 1125 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2142262985 | 1127 | E>G | No | 1000Genomes | |
COSM3513840 rs775607124 |
1127 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs1184670282 | 1130 | R>G | No | gnomAD | |
COSM705123 | 1130 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM6054689 rs199524427 |
1130 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1184670282 COSM975291 |
1130 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
rs2073056504 | 1131 | A>S | No | Ensembl | |
COSM705124 | 1132 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM4449817 | 1133 | R>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs779248683 | 1133 | R>G | No |
ExAC TOPMed gnomAD |
|
rs749599520 | 1133 | R>L | No |
ExAC TOPMed gnomAD |
|
rs749599520 | 1133 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs779248683 | 1133 | R>W | No |
ExAC TOPMed gnomAD |
|
rs751073866 | 1134 | A>D | No |
ExAC gnomAD |
|
rs751073866 | 1134 | A>V | No |
ExAC gnomAD |
|
COSM3513839 | 1135 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1403094121 | 1136 | A>G | No | gnomAD | |
rs1171850317 | 1139 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1171850317 | 1139 | Q>K | No |
TOPMed gnomAD |
|
rs1432611647 COSM1216115 |
1140 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs779598062 COSM245850 |
1140 | R>H | Variant assessed as Somatic; MODERATE impact. prostate haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1432611647 | 1140 | R>S | No |
TOPMed gnomAD |
|
rs962365778 | 1141 | S>F | No | Ensembl | |
rs765204648 COSM472279 |
1144 | S>F | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs147919797 | 1145 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs1193826405 | 1145 | R>W | No |
TOPMed gnomAD |
|
rs1597437400 | 1146 | E>D | No | Ensembl | |
rs530313478 | 1148 | E>K | No |
1000Genomes ExAC gnomAD |
|
rs1346129098 | 1150 | I>T | No | gnomAD | |
rs1006399057 | 1150 | I>V | No |
TOPMed gnomAD |
|
rs767665290 | 1151 | S>R | No |
ExAC gnomAD |
|
rs886716864 | 1151 | S>R | No |
TOPMed gnomAD |
|
rs1234257010 COSM262194 |
1152 | E>D | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
COSM4063847 rs759467878 |
1152 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs968671611 | 1153 | R>G | No |
TOPMed gnomAD |
|
rs1333724705 | 1154 | L>P | No | gnomAD | |
rs1597437352 COSM3749390 |
1155 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
rs1413124043 | 1155 | E>K | No | gnomAD | |
rs1597437352 | 1155 | E>V | No | TOPMed | |
COSM6145617 | 1156 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1307324331 | 1157 | A>T | No |
TOPMed gnomAD |
|
rs182308618 | 1158 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs773538453 | 1160 | A>D | No |
ExAC TOPMed gnomAD |
|
rs2073054921 | 1160 | A>T | No | Ensembl | |
rs773538453 | 1160 | A>V | No |
ExAC TOPMed gnomAD |
|
rs2073054803 | 1161 | T>A | No | TOPMed | |
COSM3513837 | 1161 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073054681 | 1163 | A>D | No | gnomAD | |
rs1367573210 | 1163 | A>P | No |
TOPMed gnomAD |
|
rs541063624 | 1164 | Q>* | No |
TOPMed gnomAD |
|
rs541063624 | 1164 | Q>E | No |
TOPMed gnomAD |
|
rs779537092 | 1164 | Q>H | No |
ExAC gnomAD |
|
TCGA novel | 1164 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs745353203 | 1165 | I>N | No |
ExAC TOPMed gnomAD |
|
rs745353203 | 1165 | I>T | No |
ExAC TOPMed gnomAD |
|
rs1567717407 | 1167 | M>K | No | Ensembl | |
rs1217717081 | 1168 | N>S | No |
TOPMed gnomAD |
|
COSM71739 rs2073054516 |
1169 | K>T | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs1446996988 | 1170 | K>R | No |
TOPMed gnomAD |
|
rs144827751 | 1171 | R>P | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs144827751 | 1171 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs192282019 COSM1609829 |
1171 | R>W | liver central_nervous_system [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs764000949 | 1172 | E>A | No |
ExAC TOPMed gnomAD |
|
COSM4544179 rs753734214 |
1172 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs2142262708 | 1173 | A>V | No | Ensembl | |
rs1231704667 | 1174 | E>D | No | gnomAD | |
rs1342538829 | 1176 | Q>H | No | gnomAD | |
COSM6145619 | 1176 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1298654536 | 1177 | K>E | No | gnomAD | |
rs1048400406 | 1177 | K>N | No | TOPMed | |
rs2073054197 | 1178 | M>T | No | Ensembl | |
rs755825265 | 1179 | R>C | No |
ExAC TOPMed gnomAD |
|
rs543784627 | 1179 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs543784627 | 1179 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 1179 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1597437264 | 1181 | D>A | No | Ensembl | |
rs759721896 | 1181 | D>E | No |
ExAC gnomAD |
|
COSM3513836 | 1181 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1234896673 | 1182 | L>P | No | TOPMed | |
rs934545239 | 1183 | E>K | No | gnomAD | |
rs1405840466 | 1183 | E>V | No | gnomAD | |
rs1410365781 | 1185 | A>S | No | Ensembl | |
rs762459943 | 1187 | L>R | No | Ensembl | |
rs774291783 | 1188 | Q>H | No |
ExAC TOPMed gnomAD |
|
COSM1286412 | 1188 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs766914111 | 1189 | H>Q | No |
ExAC gnomAD |
|
rs1597437235 COSM359060 |
1191 | A>S | lung [Cosmic] | No |
cosmic curated Ensembl |
rs763430162 | 1192 | T>K | No |
ExAC gnomAD |
|
TCGA novel rs763430162 |
1192 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA ExAC gnomAD |
rs563239651 | 1193 | A>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs563239651 | 1193 | A>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM5048802 rs563239651 |
1193 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1350837995 | 1195 | T>A | No | TOPMed | |
rs1452635535 | 1196 | L>R | No | gnomAD | |
rs779808443 | 1196 | L>V | No |
TOPMed gnomAD |
|
rs868157819 | 1197 | R>S | No | TOPMed | |
rs748399899 | 1197 | R>W | No |
ExAC TOPMed gnomAD |
|
rs775267559 | 1198 | K>N | No |
ExAC TOPMed gnomAD |
|
rs2073052674 | 1199 | K>E | No | Ensembl | |
TCGA novel | 1199 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs962789365 | 1199 | K>R | No | Ensembl | |
rs962789365 | 1199 | K>T | No | Ensembl | |
rs745421129 | 1200 | H>Q | No |
ExAC TOPMed gnomAD |
|
rs369355806 | 1200 | H>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs944217697 | 1202 | D>E | No | TOPMed | |
rs1213816254 | 1203 | S>N | No |
TOPMed gnomAD |
|
rs778542003 | 1203 | S>R | No |
ExAC TOPMed gnomAD |
|
rs756775939 | 1204 | V>A | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1204 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2073052296 | 1205 | A>S | No | Ensembl | |
rs375020058 | 1206 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs752421930 | 1207 | L>P | No |
ExAC gnomAD |
|
rs1367898107 | 1210 | Q>* | No |
TOPMed gnomAD |
|
rs2142262537 | 1211 | I>L | No | Ensembl | |
TCGA novel | 1212 | D>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1407813350 | 1213 | N>K | No | gnomAD | |
rs1417835465 | 1214 | L>P | No | gnomAD | |
rs149871803 | 1215 | Q>* | No |
ESP ExAC TOPMed gnomAD |
|
rs139004016 | 1215 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
rs751690695 | 1216 | R>* | No |
ExAC gnomAD |
|
rs751690695 | 1216 | R>G | No |
ExAC gnomAD |
|
rs371858208 | 1216 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs371858208 | 1216 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs1459123184 | 1217 | V>L | No |
TOPMed gnomAD |
|
rs1459123184 | 1217 | V>M | No |
TOPMed gnomAD |
|
rs138742085 | 1223 | K>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs765644845 | 1224 | E>G | No | ExAC | |
rs534444601 | 1224 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs776826894 | 1225 | K>* | No |
ExAC gnomAD |
|
rs182004113 | 1225 | K>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs759131743 | 1226 | S>G | No |
ExAC gnomAD |
|
rs2073050976 | 1227 | E>A | No | Ensembl | |
TCGA novel | 1227 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs774715939 | 1228 | M>K | No | TOPMed | |
rs915862238 | 1228 | M>L | No | TOPMed | |
TCGA novel | 1229 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2073050888 | 1229 | K>T | No | gnomAD | |
rs375389529 | 1230 | M>R | No |
ESP ExAC TOPMed gnomAD |
|
rs2073050800 | 1231 | E>A | No | TOPMed | |
rs748749758 | 1232 | I>T | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1232 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs200741359 | 1233 | D>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs200741359 | 1233 | D>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2073050609 | 1234 | D>E | No | Ensembl | |
rs372634360 | 1235 | L>F | No |
ESP TOPMed gnomAD |
|
rs188804570 | 1235 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
rs188804570 | 1235 | L>R | No |
1000Genomes ExAC gnomAD |
|
rs1007631423 | 1237 | S>G | No | Ensembl | |
rs1484445072 | 1237 | S>I | No |
TOPMed gnomAD |
|
rs1415383229 | 1238 | N>K | No | gnomAD | |
rs1395053680 | 1239 | M>R | No | gnomAD | |
rs1395053680 | 1239 | M>T | No | gnomAD | |
rs765389418 | 1239 | M>V | No | TOPMed | |
rs1567717219 | 1240 | E>Q | No | Ensembl | |
COSM3513833 | 1241 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1172351973 | 1241 | T>S | No | gnomAD | |
rs2073050255 | 1242 | V>I | No | gnomAD | |
rs754756462 COSM1732762 |
1246 | K>N | pancreas [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs995556157 | 1246 | K>Q | No |
TOPMed gnomAD |
|
rs2073045554 | 1247 | G>R | No |
TOPMed gnomAD |
|
COSM975290 | 1248 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs200591032 | 1248 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes NCI-TCGA |
rs372955878 | 1251 | K>N | No |
ESP TOPMed gnomAD |
|
rs1310717645 | 1252 | M>I | No |
TOPMed gnomAD |
|
rs61730794 | 1253 | C>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM3402587 rs1291893077 |
1254 | R>C | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs764602423 COSM2925114 |
1254 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
COSM177586 rs142605633 |
1255 | A>T | large_intestine [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
COSM435998 | 1256 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs766176370 | 1257 | E>K | No |
ExAC gnomAD |
|
rs1179299493 | 1258 | D>* | No | gnomAD | |
rs181103457 | 1259 | Q>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM4063846 rs1179607562 |
1260 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
rs1475044013 | 1260 | L>V | No | gnomAD | |
rs1555566427 | 1261 | S>G | No | gnomAD | |
rs1415941889 | 1261 | S>T | No | gnomAD | |
COSM3513832 | 1262 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs772874315 | 1263 | I>N | No |
ExAC gnomAD |
|
rs1209300458 | 1264 | K>R | No |
TOPMed gnomAD |
|
rs1209300458 | 1264 | K>T | No |
TOPMed gnomAD |
|
rs1260730446 | 1270 | Q>E | No | gnomAD | |
rs1203341157 | 1271 | Q>* | No | gnomAD | |
rs776451170 | 1271 | Q>L | No |
ExAC TOPMed gnomAD |
|
rs776451170 | 1271 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs554558885 | 1272 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs117616137 | 1272 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs775240181 | 1274 | I>M | No |
ExAC gnomAD |
|
rs1332297204 | 1274 | I>V | No | gnomAD | |
rs1857365016 | 1276 | D>Y | No | Ensembl | |
rs1046776641 | 1277 | L>F | No | gnomAD | |
TCGA novel | 1278 | T>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1327416626 | 1280 | Q>R | No | gnomAD | |
rs2073043794 | 1281 | R>G | No | Ensembl | |
rs746118240 | 1282 | A>E | No |
ExAC TOPMed gnomAD |
|
rs2073043745 | 1282 | A>P | No | TOPMed | |
rs746118240 COSM5525271 |
1282 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs149329893 | 1283 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM240781 rs749373460 |
1283 | R>H | Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs749373460 | 1283 | R>L | No |
ExAC TOPMed gnomAD |
|
rs756659080 | 1285 | Q>L | No |
ExAC TOPMed gnomAD |
|
rs756659080 | 1285 | Q>P | No |
ExAC TOPMed gnomAD |
|
rs2073043318 | 1286 | T>A | No | Ensembl | |
rs1173135767 | 1286 | T>R | No | gnomAD | |
rs1249269755 | 1287 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
COSM4605248 | 1287 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073043188 | 1288 | S>L | No | Ensembl | |
rs2073043227 | 1288 | S>T | No | TOPMed | |
rs777978679 | 1289 | G>D | No |
ExAC gnomAD |
|
rs1462644557 | 1289 | G>R | No |
TOPMed gnomAD |
|
TCGA novel | 1289 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1239478400 | 1291 | Y>C | No | gnomAD | |
rs769947244 | 1292 | S>A | No |
ExAC TOPMed gnomAD |
|
rs781738527 COSM3387703 |
1293 | R>C | pancreas [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs781738527 | 1293 | R>G | No |
ExAC TOPMed gnomAD |
|
rs751944483 | 1293 | R>H | No |
ExAC TOPMed gnomAD |
|
rs751944483 | 1293 | R>L | No |
ExAC TOPMed gnomAD |
|
rs2073027072 | 1294 | Q>* | No |
TOPMed gnomAD |
|
rs778465333 | 1295 | L>R | No |
ExAC gnomAD |
|
rs370430052 | 1296 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
rs370430052 | 1296 | D>Y | No |
ESP ExAC TOPMed gnomAD |
|
rs1326203182 | 1297 | E>A | No |
TOPMed gnomAD |
|
rs1326203182 | 1297 | E>G | No |
TOPMed gnomAD |
|
rs753380480 | 1298 | K>N | No |
ExAC TOPMed gnomAD |
|
rs1452847373 | 1300 | T>A | No |
TOPMed gnomAD |
|
rs1567716423 | 1301 | L>I | No | Ensembl | |
rs1311641189 | 1301 | L>P | No | gnomAD | |
rs1239841707 | 1302 | V>L | No | gnomAD | |
rs1335448454 | 1304 | Q>* | No | gnomAD | |
rs2073026386 | 1305 | L>P | No | Ensembl | |
rs752643679 VAR_036003 COSM32777 |
1306 | S>L | large_intestine breast a breast cancer sample; somatic mutation [Cosmic, UniProt] | No |
cosmic curated UniProt ExAC TOPMed dbSNP gnomAD |
rs1311980679 | 1308 | G>V | No |
TOPMed gnomAD |
|
rs1432787830 | 1309 | K>N | No |
TOPMed gnomAD |
|
rs759316268 | 1310 | Q>K | No |
ExAC TOPMed gnomAD |
|
rs1158696276 | 1310 | Q>R | No | gnomAD | |
rs774164664 | 1311 | A>S | No |
ExAC TOPMed gnomAD |
|
rs774164664 | 1311 | A>T | No |
ExAC TOPMed gnomAD |
|
rs75973950 | 1312 | F>L | No |
1000Genomes ExAC gnomAD |
|
rs1189218325 | 1313 | T>I | No |
TOPMed gnomAD |
|
rs763260257 | 1315 | Q>* | No |
ExAC TOPMed gnomAD |
|
COSM1380786 | 1315 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073025670 | 1315 | Q>R | No | Ensembl | |
rs919385796 | 1316 | I>M | No |
TOPMed gnomAD |
|
rs773530680 | 1316 | I>T | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1318 | E>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2073025473 | 1318 | E>V | No | TOPMed | |
rs182799256 | 1319 | L>M | No |
1000Genomes ExAC gnomAD |
|
rs182799256 | 1319 | L>V | No |
1000Genomes ExAC gnomAD |
|
rs2073025367 | 1320 | K>R | No | Ensembl | |
rs147039410 | 1321 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
rs747378017 | 1322 | Q>* | No |
ExAC gnomAD |
|
rs1277798093 | 1323 | L>F | No | gnomAD | |
rs780484505 | 1323 | L>P | No |
ExAC gnomAD |
|
rs780484505 | 1323 | L>R | No |
ExAC gnomAD |
|
rs371854508 | 1325 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
rs758627359 | 1325 | E>K | No |
ExAC gnomAD |
|
rs2073024861 | 1326 | E>D | No | Ensembl | |
rs777358157 | 1327 | I>T | No |
ExAC gnomAD |
|
rs985788759 | 1328 | K>N | No |
TOPMed gnomAD |
|
rs1033746781 | 1331 | S>N | No |
TOPMed gnomAD |
|
rs1033746781 | 1331 | S>T | No |
TOPMed gnomAD |
|
rs533987659 | 1334 | A>E | No |
1000Genomes ExAC gnomAD |
|
rs1422107639 | 1335 | H>L | No | gnomAD | |
rs1383856336 | 1336 | A>G | No |
TOPMed gnomAD |
|
TCGA novel | 1336 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1383856336 | 1336 | A>V | No |
TOPMed gnomAD |
|
rs1752525614 | 1338 | Q>K | No | TOPMed | |
rs754378877 | 1339 | S>F | No | ExAC | |
rs1597435937 | 1340 | S>F | No | Ensembl | |
rs751545493 | 1340 | S>P | No |
ExAC gnomAD |
|
VAR_030193 COSM361171 rs3744564 |
1341 | R>C | lung large_intestine [Cosmic] | No |
cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
COSM4063845 rs758259998 |
1341 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs918710103 | 1342 | H>Y | No | TOPMed | |
TCGA novel rs1321536766 |
1343 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs750209143 | 1344 | C>Y | No |
ExAC gnomAD |
|
rs765617199 | 1345 | D>G | No |
ExAC gnomAD |
|
COSM3513831 | 1345 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 1347 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3513830 rs146728905 |
1348 | R>Q | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
COSM145656 rs201222002 |
1348 | R>W | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs1337422951 | 1349 | E>K | No | gnomAD | |
rs1203144062 | 1350 | Q>H | No | TOPMed | |
rs779794149 | 1350 | Q>L | No |
TOPMed gnomAD |
|
rs779794149 | 1350 | Q>R | No |
TOPMed gnomAD |
|
rs764268905 | 1351 | Y>C | No |
ExAC TOPMed gnomAD |
|
rs1369639717 | 1352 | E>K | No |
1000Genomes TOPMed gnomAD |
|
rs1369639717 | 1352 | E>Q | No |
1000Genomes TOPMed gnomAD |
|
COSM6145620 | 1353 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs776115973 | 1354 | E>K | No |
ExAC TOPMed gnomAD |
|
rs746298426 | 1355 | Q>H | No |
ExAC gnomAD |
|
rs1597435891 | 1355 | Q>K | No | Ensembl | |
rs867278498 COSM3513829 |
1356 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs1171626771 | 1357 | A>D | No | gnomAD | |
rs774684415 | 1358 | K>M | No |
ExAC TOPMed gnomAD |
|
rs774684415 | 1358 | K>R | No |
ExAC TOPMed gnomAD |
|
rs774684415 | 1358 | K>T | No |
ExAC TOPMed gnomAD |
|
rs1597435887 | 1359 | A>G | No | Ensembl | |
rs2073021723 | 1359 | A>P | No | gnomAD | |
COSM6037935 | 1359 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2086171093 | 1360 | E>A | No |
TOPMed gnomAD |
|
rs747802188 | 1360 | E>K | No |
ExAC TOPMed gnomAD |
|
rs1038263832 | 1362 | Q>* | No | TOPMed | |
rs1567716195 | 1362 | Q>H | No | Ensembl | |
rs1597435866 | 1363 | R>S | No | Ensembl | |
rs754537415 COSM4063843 |
1364 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs151094940 | 1365 | M>I | No |
ESP ExAC TOPMed gnomAD |
|
rs1597435856 | 1365 | M>L | No | Ensembl | |
rs780076435 | 1366 | S>A | No |
ExAC gnomAD |
|
COSM3957989 | 1366 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs757644677 | 1369 | N>I | No |
ExAC gnomAD |
|
rs2073021134 | 1370 | S>T | No | Ensembl | |
rs1203608310 | 1371 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1567716170 | 1372 | V>A | No | Ensembl | |
rs1406036179 | 1372 | V>I | No | TOPMed | |
rs1303052267 | 1373 | A>V | No |
TOPMed gnomAD |
|
rs765132904 | 1374 | Q>* | No |
ExAC gnomAD |
|
rs2073020704 | 1374 | Q>H | No | Ensembl | |
rs1344212562 | 1376 | R>K | No |
TOPMed gnomAD |
|
rs2073020624 | 1377 | T>I | No | TOPMed | |
TCGA novel | 1377 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1563419 | 1378 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1216114 rs757081665 |
1380 | E>D | large_intestine Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated ExAC gnomAD NCI-TCGA Cosmic |
rs2073020546 | 1381 | T>I | No |
TOPMed gnomAD |
|
rs571435872 | 1382 | D>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2073020455 | 1384 | I>L | No | Ensembl | |
rs764202104 | 1384 | I>T | No |
ExAC TOPMed gnomAD |
|
rs760849655 | 1385 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs142884848 COSM1749853 |
1386 | R>C | urinary_tract [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs142884848 | 1386 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs778363485 | 1386 | R>H | No |
ExAC TOPMed gnomAD |
|
rs142884848 | 1386 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs199993595 | 1387 | T>P | No |
1000Genomes ExAC gnomAD |
|
rs111407089 | 1388 | E>G | No | Ensembl | |
rs771314271 | 1388 | E>K | No |
ExAC gnomAD |
|
COSM3889244 rs1435961876 |
1389 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs776391656 | 1391 | E>K | No |
ExAC TOPMed gnomAD |
|
rs776391656 | 1391 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs779036217 | 1396 | K>N | No |
ExAC TOPMed gnomAD |
|
rs2073013629 | 1396 | K>Q | No | Ensembl | |
rs1440961452 | 1396 | K>R | No | TOPMed | |
rs1336630101 | 1398 | A>P | No |
TOPMed gnomAD |
|
rs770988771 | 1399 | Q>* | No |
ExAC TOPMed gnomAD |
|
rs770988771 | 1399 | Q>E | No |
ExAC TOPMed gnomAD |
|
rs367994781 | 1400 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
rs148588034 RCV001093235 |
1400 | R>H | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs148588034 | 1400 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2073013194 | 1402 | Q>* | No |
TOPMed gnomAD |
|
COSM3513828 | 1406 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1324626895 | 1406 | E>Q | No |
TOPMed gnomAD |
|
COSM1520156 COSM6145622 rs752892297 |
1409 | E>* | lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs752892297 | 1409 | E>Q | No |
ExAC gnomAD |
|
rs1363259529 | 1411 | V>L | No |
TOPMed gnomAD |
|
COSM705125 | 1412 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1446737089 | 1412 | N>K | No |
1000Genomes TOPMed gnomAD |
|
rs755097174 | 1412 | N>S | No |
ExAC gnomAD |
|
rs766934626 | 1413 | A>G | No |
ExAC gnomAD |
|
rs751604967 | 1413 | A>T | No |
ExAC gnomAD |
|
rs750880701 | 1414 | K>R | No |
ExAC TOPMed gnomAD |
|
rs765556012 | 1415 | C>R | No |
ExAC gnomAD |
|
rs762192889 | 1416 | A>S | No |
ExAC gnomAD |
|
rs2142257819 | 1416 | A>V | No | Ensembl | |
COSM3889243 | 1417 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1435262667 | 1418 | L>I | No | gnomAD | |
rs1184301499 | 1418 | L>P | No | gnomAD | |
COSM6080140 | 1419 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs375444175 | 1419 | E>D | No |
ESP TOPMed gnomAD |
|
rs1397188343 | 1420 | K>R | No | TOPMed | |
rs143212686 COSM3378068 |
1421 | T>M | pancreas [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs143212686 | 1421 | T>R | No |
ESP ExAC TOPMed gnomAD |
|
COSM705126 | 1423 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1212695110 | 1424 | R>S | No | gnomAD | |
rs1328756071 | 1424 | R>W | No |
TOPMed gnomAD |
|
COSM5385650 | 1428 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3889242 | 1432 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs527412902 | 1433 | M>I | No |
1000Genomes ExAC gnomAD |
|
rs2073012123 | 1433 | M>K | No |
TOPMed gnomAD |
|
TCGA novel | 1433 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2073012146 | 1433 | M>V | No | Ensembl | |
rs773159635 | 1434 | I>T | No |
ExAC TOPMed gnomAD |
|
rs2073011981 | 1435 | D>E | No | Ensembl | |
rs867955270 COSM230332 |
1435 | D>N | NS Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
rs1340267248 | 1436 | V>A | No |
TOPMed gnomAD |
|
rs1340267248 | 1436 | V>D | No |
TOPMed gnomAD |
|
rs372720413 | 1436 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
rs1474672169 | 1437 | E>D | No |
TOPMed gnomAD |
|
rs1028373874 | 1437 | E>Q | No | Ensembl | |
rs376800819 | 1440 | N>K | No |
ESP TOPMed gnomAD |
|
rs781431071 | 1441 | A>S | No |
ExAC TOPMed gnomAD |
|
rs781431071 | 1441 | A>T | No |
ExAC TOPMed gnomAD |
|
rs755185147 | 1441 | A>V | No |
ExAC gnomAD |
|
rs2073011720 | 1442 | A>D | No | Ensembl | |
rs1462774514 | 1443 | C>F | No |
TOPMed gnomAD |
|
rs2073011652 | 1444 | A>G | No |
TOPMed gnomAD |
|
RCV001093234 rs139860229 VAR_036004 COSM32710 |
1445 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine breast a breast cancer sample; somatic mutation [NCI-TCGA, Cosmic, UniProt] | No |
NCI-TCGA Cosmic cosmic curated ClinVar UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
rs758468961 | 1447 | D>N | No |
ExAC gnomAD |
|
rs1009466486 | 1447 | D>V | No | Ensembl | |
rs2073011485 | 1449 | K>N | No | TOPMed | |
TCGA novel | 1450 | Q>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs145980080 | 1452 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
rs1462277540 | 1452 | N>Y | No | gnomAD | |
TCGA novel | 1453 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs765754672 | 1454 | D>E | No |
ExAC TOPMed gnomAD |
|
rs1166663666 | 1454 | D>G | No | gnomAD | |
rs2073011318 | 1455 | K>* | No | TOPMed | |
COSM5901993 | 1456 | I>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs747233627 | 1456 | I>M | No |
ExAC TOPMed gnomAD |
|
rs2142257293 | 1457 | L>P | No | Ensembl | |
rs758460560 | 1458 | A>P | No | ExAC | |
COSM1709860 rs1567715629 |
1460 | W>* | skin [Cosmic] | No |
cosmic curated Ensembl |
rs1203438599 COSM1709860 |
1460 | W>* | Variant assessed as Somatic; HIGH impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
COSM975288 | 1460 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1486971426 | 1461 | K>* | No | gnomAD | |
rs1281635587 | 1462 | Q>E | No | gnomAD | |
rs142538104 | 1463 | K>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1342993786 | 1467 | T>I | No |
TOPMed gnomAD |
|
rs375586690 | 1468 | H>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs1369558627 | 1468 | H>R | No | gnomAD | |
rs754340824 | 1469 | A>G | No |
ExAC TOPMed gnomAD |
|
rs1292972737 | 1469 | A>T | No |
TOPMed gnomAD |
|
COSM975287 | 1469 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1416369023 | 1470 | E>G | No | gnomAD | |
rs756507941 | 1470 | E>K | No |
ExAC TOPMed gnomAD |
|
COSM417202 | 1470 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073008146 | 1471 | L>F | No | gnomAD | |
COSM4990930 | 1471 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs751278810 | 1472 | E>A | No |
ExAC TOPMed gnomAD |
|
rs2073008042 | 1473 | A>D | No | TOPMed | |
rs139132394 | 1475 | Q>* | No |
ESP ExAC TOPMed gnomAD |
|
COSM4826721 | 1475 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1386502889 | 1476 | K>N | No | gnomAD | |
rs1158637321 | 1477 | E>D | No | gnomAD | |
rs1567715596 COSM1709859 |
1477 | E>K | skin [Cosmic] | No |
cosmic curated Ensembl |
rs1293687580 | 1478 | S>C | No | TOPMed | |
rs150776466 | 1479 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
rs376070618 | 1479 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM1630050 rs376070618 |
1479 | R>L | liver [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs2073007648 | 1480 | S>P | No | TOPMed | |
rs185795474 | 1481 | L>F | No |
1000Genomes ExAC gnomAD |
|
rs1476411220 | 1482 | S>R | No |
TOPMed gnomAD |
|
rs768467825 | 1483 | T>K | No |
ExAC gnomAD |
|
rs768467825 | 1483 | T>R | No |
ExAC gnomAD |
|
COSM283008 | 1484 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3513824 | 1484 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1441120854 | 1486 | F>L | No |
TOPMed gnomAD |
|
rs760445157 | 1488 | I>V | No |
ExAC gnomAD |
|
rs892475843 | 1489 | K>Q | No |
TOPMed gnomAD |
|
rs1205773092 | 1490 | N>H | No | gnomAD | |
rs892249854 | 1490 | N>I | No |
TOPMed gnomAD |
|
rs1567715561 | 1490 | N>K | No | Ensembl | |
rs373084196 | 1491 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs141308810 | 1491 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1328597592 | 1492 | Y>C | No | gnomAD | |
COSM417203 | 1493 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073006940 | 1494 | E>D | No | Ensembl | |
rs865843673 COSM3513822 |
1494 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
TCGA novel | 1495 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2073006911 | 1496 | L>S | No | TOPMed | |
COSM705127 | 1497 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1445820256 | 1497 | D>N | No | gnomAD | |
rs1328115885 | 1498 | Q>R | No | gnomAD | |
rs745994219 | 1499 | L>F | No |
ExAC TOPMed gnomAD |
|
rs779064724 | 1499 | L>P | No |
ExAC TOPMed gnomAD |
|
COSM107119 rs139013228 |
1500 | E>K | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs148274267 | 1501 | T>N | No |
ESP ExAC TOPMed gnomAD |
|
rs1419034833 | 1502 | L>F | No | gnomAD | |
rs756595738 | 1503 | K>Q | No |
ExAC TOPMed gnomAD |
|
rs1399756795 | 1503 | K>R | No |
TOPMed gnomAD |
|
COSM705128 | 1504 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3717163 rs779637570 |
1504 | R>Q | liver [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs753077778 | 1504 | R>W | No |
ExAC TOPMed gnomAD |
|
rs1194043224 | 1506 | N>D | No | gnomAD | |
rs758051881 | 1511 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs758051881 COSM3387702 |
1511 | Q>K | pancreas [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs866021469 | 1512 | E>K | No | Ensembl | |
rs2073005208 | 1513 | I>F | No | Ensembl | |
rs2073005175 | 1515 | D>V | No | TOPMed | |
rs1469114204 | 1516 | L>P | No | gnomAD | |
rs987428245 | 1516 | L>V | No |
TOPMed gnomAD |
|
rs1597435074 | 1519 | Q>H | No | Ensembl | |
rs745561875 | 1520 | I>T | No |
ExAC TOPMed gnomAD |
|
rs756803560 | 1521 | A>E | No |
ExAC TOPMed gnomAD |
|
rs2073004970 | 1521 | A>S | No |
TOPMed gnomAD |
|
rs756803560 | 1521 | A>V | No |
ExAC TOPMed gnomAD |
|
rs1439369531 | 1522 | E>D | No | gnomAD | |
rs753345119 | 1524 | G>* | No |
ExAC gnomAD |
|
COSM1709857 | 1524 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3513819 rs753345119 |
1524 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC gnomAD |
rs141906658 | 1526 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM3421276 rs567549660 |
1526 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
rs141906658 | 1526 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs549223976 | 1527 | I>M | No |
1000Genomes ExAC gnomAD |
|
COSM705130 | 1528 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs143034615 | 1529 | E>A | No |
ESP ExAC TOPMed gnomAD |
|
COSM3889239 | 1529 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073004470 | 1531 | E>G | No | TOPMed | |
rs763189527 | 1531 | E>Q | No |
ExAC gnomAD |
|
rs1447014813 | 1532 | K>I | No |
TOPMed gnomAD |
|
rs1356653143 | 1532 | K>N | No | gnomAD | |
rs773410516 | 1533 | I>K | No |
ExAC TOPMed gnomAD |
|
rs1220515537 | 1533 | I>L | No | gnomAD | |
rs773410516 | 1533 | I>T | No |
ExAC TOPMed gnomAD |
|
COSM975285 | 1534 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073004235 | 1534 | K>R | No | Ensembl | |
rs748691127 | 1536 | Q>H | No |
ExAC gnomAD |
|
rs2073004180 | 1536 | Q>K | No | Ensembl | |
rs2073004115 | 1537 | V>I | No | TOPMed | |
rs776962006 | 1538 | E>G | No |
ExAC gnomAD |
|
rs1363921871 | 1538 | E>K | No | TOPMed | |
rs1363921871 | 1538 | E>Q | No | TOPMed | |
rs776962006 | 1538 | E>V | No |
ExAC gnomAD |
|
rs3764850 VAR_030194 |
1539 | Q>H | No |
UniProt ExAC TOPMed dbSNP gnomAD |
|
rs2073004007 COSM3957987 |
1539 | Q>K | lung [Cosmic] | No |
cosmic curated TOPMed |
rs2073003971 | 1539 | Q>R | No | TOPMed | |
rs1189712500 COSM975284 |
1540 | E>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
COSM975283 | 1540 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2073003884 | 1540 | E>G | No | Ensembl | |
rs867803552 | 1541 | K>N | No | Ensembl | |
rs953333658 | 1541 | K>T | No |
TOPMed gnomAD |
|
rs921940295 | 1546 | A>G | No |
TOPMed gnomAD |
|
rs376217197 | 1549 | E>D | No |
ESP ExAC gnomAD |
|
rs139117615 | 1549 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs2073003632 | 1550 | E>K | No |
TOPMed gnomAD |
|
rs758782200 | 1551 | A>S | No |
ExAC TOPMed gnomAD |
|
rs758782200 | 1551 | A>T | No |
ExAC TOPMed gnomAD |
|
rs748716200 | 1552 | E>K | No |
ExAC TOPMed gnomAD |
|
rs1301215969 | 1553 | A>E | No | gnomAD | |
rs1013700871 | 1553 | A>P | No |
TOPMed gnomAD |
|
rs1013700871 | 1553 | A>S | No |
TOPMed gnomAD |
|
rs574028621 | 1554 | S>F | No |
1000Genomes ExAC gnomAD |
|
rs1432935734 | 1554 | S>T | No |
TOPMed gnomAD |
|
rs1158730641 | 1556 | E>G | No | gnomAD | |
rs1195789833 | 1556 | E>K | No | TOPMed | |
rs781255683 | 1557 | H>R | No |
ExAC gnomAD |
|
rs2072996608 | 1559 | E>G | No | Ensembl | |
COSM705131 | 1560 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs866511654 | 1560 | G>E | No | Ensembl | |
TCGA novel | 1561 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072996414 | 1563 | L>P | No | gnomAD | |
rs555367957 COSM435997 |
1564 | R>C | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
COSM975282 rs750693945 |
1564 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1430894595 | 1565 | I>S | No | TOPMed | |
rs2072996283 | 1566 | Q>H | No | gnomAD | |
VAR_064735 | 1566 | Q>K | found in a renal cell carcinoma sample; somatic mutation [UniProt] | No | UniProt |
rs765532005 | 1567 | L>F | No |
ExAC gnomAD |
|
TCGA novel | 1568 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1206449099 | 1568 | E>D | No | gnomAD | |
rs1466232010 | 1569 | L>M | No | TOPMed | |
COSM4063841 | 1569 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1597434709 | 1570 | N>K | No | TOPMed | |
rs762023477 | 1570 | N>S | No |
ExAC gnomAD |
|
rs149168401 | 1571 | Q>E | No |
ESP ExAC TOPMed gnomAD |
|
rs2072996066 | 1571 | Q>R | No | Ensembl | |
rs764181020 | 1574 | S>A | No |
ExAC gnomAD |
|
rs1311243126 | 1575 | E>K | No | gnomAD | |
rs2072995935 | 1578 | R>G | No | TOPMed | |
rs1004813701 | 1578 | R>K | No | Ensembl | |
rs2072995862 | 1578 | R>S | No | TOPMed | |
rs2072995831 | 1579 | K>R | No | Ensembl | |
rs1394703232 | 1582 | E>* | No | TOPMed | |
rs2072995759 | 1582 | E>D | No | TOPMed | |
COSM3513817 | 1582 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1394703232 | 1582 | E>Q | No | TOPMed | |
rs1567715167 | 1584 | D>G | No | Ensembl | |
rs2072995690 | 1584 | D>N | No | TOPMed | |
rs761094305 | 1585 | E>G | No |
ExAC gnomAD |
|
COSM1709856 | 1586 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1182630992 | 1588 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1366037138 | 1588 | D>H | No | gnomAD | |
TCGA novel | 1588 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1319893254 | 1589 | Q>R | No | gnomAD | |
TCGA novel | 1590 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs369414239 | 1590 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 1590 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072995458 | 1591 | K>Q | No | Ensembl | |
rs1293937617 | 1592 | R>* | No | gnomAD | |
COSM180587 rs1457247111 |
1592 | R>K | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs774434295 | 1592 | R>S | No | gnomAD | |
rs375353833 | 1594 | H>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2072995276 | 1594 | H>R | No | Ensembl | |
rs2072995246 | 1595 | I>V | No | gnomAD | |
rs1211590351 | 1596 | R>G | No | gnomAD | |
rs138249334 | 1597 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
VAR_036005 COSM33235 rs150456818 |
1598 | V>M | breast a breast cancer sample; somatic mutation [Cosmic, UniProt] | No |
cosmic curated UniProt ESP ExAC TOPMed dbSNP gnomAD |
COSM4902572 | 1599 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM6080142 | 1599 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1186111577 | 1601 | M>T | No | gnomAD | |
rs1314100189 | 1601 | M>V | No |
TOPMed gnomAD |
|
rs1040384969 | 1603 | S>N | No | TOPMed | |
COSM6080143 | 1603 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs768144139 | 1604 | T>S | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1605 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1330779806 | 1606 | D>A | No | gnomAD | |
rs1488369580 | 1606 | D>E | No |
TOPMed gnomAD |
|
rs780086960 | 1606 | D>H | No |
ExAC gnomAD |
|
rs1263984378 | 1608 | E>K | No | gnomAD | |
rs371915730 | 1609 | I>N | No |
ESP ExAC gnomAD |
|
COSM3513814 | 1610 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072994597 | 1614 | D>H | No | gnomAD | |
rs2072994597 | 1614 | D>Y | No | gnomAD | |
rs1487927355 | 1615 | A>P | No | TOPMed | |
rs764112528 | 1615 | A>V | No |
ExAC gnomAD |
|
rs2072994478 | 1616 | I>T | No | TOPMed | |
rs2072994390 | 1617 | R>K | No | gnomAD | |
rs1299668733 | 1617 | R>W | No | gnomAD | |
rs201498285 | 1618 | L>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1354093914 COSM4063840 |
1618 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs2072994231 | 1621 | K>M | No |
TOPMed gnomAD |
|
rs146890530 | 1621 | K>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2072994054 COSM226334 |
1622 | M>I | NS [Cosmic] | No |
cosmic curated TOPMed |
rs767981676 | 1622 | M>L | No |
ExAC TOPMed gnomAD |
|
rs1197693577 | 1622 | M>T | No | Ensembl | |
rs2142255723 | 1624 | G>E | No | Ensembl | |
rs2142255727 | 1624 | G>R | No | Ensembl | |
rs1377644734 | 1625 | D>E | No | gnomAD | |
rs1160887737 | 1625 | D>N | No |
TOPMed gnomAD |
|
rs759958840 | 1627 | N>D | No |
ExAC TOPMed gnomAD |
|
rs201388550 | 1627 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
COSM3513813 | 1628 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2142255693 | 1629 | M>I | No | Ensembl | |
rs140831508 | 1629 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
COSM3513812 | 1630 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs770768193 | 1631 | I>F | No | Ensembl | |
rs1369853869 | 1631 | I>T | No | TOPMed | |
rs1387477594 | 1632 | Q>R | No |
TOPMed gnomAD |
|
rs1483695571 | 1634 | N>H | No | gnomAD | |
rs776303869 | 1634 | N>K | No |
ExAC TOPMed gnomAD |
|
rs1329623062 | 1636 | A>T | No | Ensembl | |
rs969335655 | 1637 | N>K | No | Ensembl | |
rs1597434569 | 1637 | N>T | No | Ensembl | |
rs201002878 COSM75506 |
1638 | R>C | ovary large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs201002878 | 1638 | R>G | No |
ExAC TOPMed gnomAD |
|
rs146429782 | 1638 | R>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM365699 rs146429782 |
1638 | R>L | lung [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs201002878 | 1638 | R>S | No |
ExAC TOPMed gnomAD |
|
COSM6080144 | 1639 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs749263409 | 1639 | M>L | No |
ExAC TOPMed gnomAD |
|
rs2072993209 | 1639 | M>T | No | Ensembl | |
rs749263409 | 1639 | M>V | No |
ExAC TOPMed gnomAD |
|
rs778581504 | 1640 | A>V | No |
ExAC gnomAD |
|
rs2072993136 | 1641 | A>T | No | Ensembl | |
rs1410178294 | 1642 | E>D | No |
TOPMed gnomAD |
|
rs756229241 | 1643 | A>D | No |
ExAC TOPMed gnomAD |
|
rs756229241 | 1643 | A>G | No |
ExAC TOPMed gnomAD |
|
rs757040802 | 1643 | A>S | No |
ExAC gnomAD |
|
rs757040802 | 1643 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs756229241 | 1643 | A>V | No |
ExAC TOPMed gnomAD |
|
rs2142255578 | 1645 | R>K | No | Ensembl | |
rs752770681 | 1646 | N>I | No |
ExAC gnomAD |
|
rs2072992881 | 1647 | Y>C | No | TOPMed | |
rs2072992809 | 1648 | R>K | No | TOPMed | |
rs2072992778 | 1648 | R>S | No | Ensembl | |
TCGA novel | 1648 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1649 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1171478960 | 1649 | N>K | No | gnomAD | |
rs1015171831 | 1650 | T>I | No | Ensembl | |
rs1597434544 | 1650 | T>P | No | Ensembl | |
rs752038031 | 1651 | Q>* | No |
ExAC TOPMed gnomAD |
|
rs766685286 | 1652 | A>G | No |
ExAC TOPMed gnomAD |
|
rs763324729 | 1655 | K>R | No |
ExAC TOPMed gnomAD |
|
rs2072991303 | 1657 | T>A | No | Ensembl | |
rs758727515 | 1657 | T>I | No |
ExAC TOPMed gnomAD |
|
rs758727515 | 1657 | T>N | No |
ExAC TOPMed gnomAD |
|
rs199719596 | 1658 | Q>* | No | gnomAD | |
rs199719596 | 1658 | Q>E | No | gnomAD | |
rs142545737 | 1659 | L>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2072991080 | 1660 | H>Q | No | TOPMed | |
rs775247676 | 1662 | D>N | No |
ExAC gnomAD |
|
rs1322318142 | 1664 | A>D | No | TOPMed | |
rs759064140 | 1664 | A>T | No |
ExAC TOPMed gnomAD |
|
rs373012770 | 1665 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
rs373012770 | 1665 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
rs773071362 | 1666 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM975281 | 1666 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs769510752 | 1666 | R>P | No |
ExAC TOPMed gnomAD |
|
rs769510752 COSM975280 |
1666 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
COSM472278 rs773071362 |
1666 | R>W | kidney Variant assessed as Somatic; MODERATE impact. pancreas [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs894091647 | 1667 | S>N | No | Ensembl | |
COSM368637 | 1668 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072990540 | 1668 | Q>R | No | TOPMed | |
COSM3513810 | 1669 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs781342950 | 1669 | E>K | No |
ExAC TOPMed gnomAD |
|
rs768768822 | 1670 | D>E | No |
ExAC TOPMed gnomAD |
|
rs1244643978 | 1672 | K>R | No | Ensembl | |
rs747076910 | 1673 | E>K | No |
ExAC gnomAD |
|
rs747076910 | 1673 | E>Q | No |
ExAC gnomAD |
|
COSM6080145 | 1676 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs531052694 | 1676 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs369136549 | 1677 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1597434407 | 1678 | V>G | No | Ensembl | |
rs148432308 | 1679 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
rs1392171754 | 1679 | E>Q | No | gnomAD | |
rs757650153 | 1680 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs757650153 | 1680 | R>G | No |
ExAC TOPMed gnomAD |
|
COSM435996 rs201766006 |
1680 | R>H | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1223998404 | 1681 | R>S | No | gnomAD | |
rs767247683 | 1682 | A>D | No |
ExAC TOPMed gnomAD |
|
rs1208063187 | 1683 | N>K | No |
TOPMed gnomAD |
|
rs759036108 | 1683 | N>S | No |
ExAC gnomAD |
|
rs2072989754 | 1685 | L>V | No | gnomAD | |
rs907753151 | 1686 | Q>* | No |
TOPMed gnomAD |
|
rs907753151 | 1686 | Q>K | No |
TOPMed gnomAD |
|
rs2142255234 | 1687 | A>D | No | Ensembl | |
TCGA novel | 1688 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs769599599 COSM4550674 |
1690 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs769599599 | 1690 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs983778319 | 1691 | E>* | No | TOPMed | |
rs983778319 | 1691 | E>K | No | TOPMed | |
rs954547781 | 1691 | E>V | No | Ensembl | |
rs980224192 COSM1380783 |
1693 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs150177053 | 1693 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1404154009 | 1694 | A>D | No |
TOPMed gnomAD |
|
rs2072989340 | 1694 | A>T | No | TOPMed | |
rs776875695 | 1695 | T>P | No |
ExAC TOPMed gnomAD |
|
COSM3818793 | 1696 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM6145623 | 1697 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 1698 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2142255173 | 1698 | Q>R | No | Ensembl | |
rs1169348766 | 1699 | T>A | No | gnomAD | |
rs574898089 | 1699 | T>I | No |
1000Genomes ExAC gnomAD |
|
rs189070988 | 1700 | E>D | No |
1000Genomes ESP TOPMed gnomAD |
|
COSM3513809 | 1700 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1193144705 | 1701 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs747114191 | 1701 | R>K | No |
ExAC gnomAD |
|
rs2142255130 | 1702 | S>R | No | Ensembl | |
rs779544532 COSM3402586 |
1706 | A>T | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1280039787 | 1706 | A>V | No |
TOPMed gnomAD |
|
rs2072988681 | 1708 | Q>* | No | TOPMed | |
rs1219510364 TCGA novel |
1708 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
gnomAD NCI-TCGA |
rs267604709 | 1709 | E>K | No | gnomAD | |
rs267604709 | 1709 | E>Q | No | gnomAD | |
TCGA novel | 1711 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2142255078 | 1711 | L>P | No | Ensembl | |
rs754251100 | 1712 | D>G | No |
ExAC TOPMed gnomAD |
|
COSM333572 | 1712 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1478841276 | 1713 | A>G | No | TOPMed | |
rs375102610 | 1713 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1423112722 | 1714 | S>N | No | TOPMed | |
rs140602452 | 1715 | E>Q | No |
ESP TOPMed |
|
rs1077841 VAR_030195 |
1716 | R>C | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs192471819 | 1716 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1178311471 | 1717 | V>I | No | gnomAD | |
rs907527733 | 1718 | Q>H | No | TOPMed | |
rs1310963657 | 1719 | L>F | No | Ensembl | |
rs2072987987 | 1720 | L>P | No | TOPMed | |
rs750409153 | 1722 | T>P | No |
ExAC gnomAD |
|
COSM3957985 rs2142254985 |
1723 | Q>* | lung [Cosmic] | No |
cosmic curated Ensembl |
TCGA novel | 1724 | N>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
rs138994893 | 1726 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
rs1235182316 | 1727 | L>P | No |
TOPMed gnomAD |
|
rs2072977935 | 1727 | L>V | No | Ensembl | |
rs371788103 | 1728 | I>N | No |
ESP ExAC TOPMed gnomAD |
|
rs371788103 | 1728 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
rs551559969 | 1729 | N>D | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1729 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs765213511 | 1731 | K>Q | No |
ExAC gnomAD |
|
rs1012337672 | 1734 | L>P | No | Ensembl | |
rs868547373 | 1735 | E>* | No | gnomAD | |
COSM1324187 | 1735 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs868547373 | 1735 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs541402684 | 1736 | T>K | No |
1000Genomes ExAC gnomAD |
|
rs541402684 | 1736 | T>R | No |
1000Genomes ExAC gnomAD |
|
rs763975466 | 1736 | T>S | No |
ExAC TOPMed gnomAD |
|
rs1313001390 | 1738 | I>F | No | gnomAD | |
rs2072977157 | 1738 | I>S | No | TOPMed | |
rs1597433898 | 1739 | S>A | No | Ensembl | |
COSM1709854 rs1597433895 |
1739 | S>F | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs1232221992 | 1740 | Q>L | No |
TOPMed gnomAD |
|
rs759747876 | 1741 | I>M | No |
ExAC gnomAD |
|
rs2072976951 | 1742 | Q>* | No | Ensembl | |
rs771070275 | 1742 | Q>H | No |
ExAC TOPMed gnomAD |
|
rs1319686709 | 1743 | G>* | No | gnomAD | |
rs1451396390 COSM705134 |
1743 | G>E | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs1319686709 | 1743 | G>R | No | gnomAD | |
rs749841668 | 1744 | E>D | No |
ExAC TOPMed gnomAD |
|
rs940225995 | 1745 | M>T | No |
TOPMed gnomAD |
|
rs770242183 | 1747 | D>V | No |
ExAC TOPMed gnomAD |
|
rs1431578495 | 1748 | I>N | No | gnomAD | |
rs1431578495 | 1748 | I>T | No | gnomAD | |
rs748430464 | 1748 | I>V | No |
ExAC TOPMed |
|
rs758029655 | 1749 | I>L | No |
ExAC gnomAD |
|
rs758029655 | 1749 | I>V | No |
ExAC gnomAD |
|
rs1390197403 | 1751 | E>G | No | gnomAD | |
TCGA novel | 1752 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM975278 rs745461898 |
1753 | R>C | endometrium [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs778397124 | 1753 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs778397124 | 1753 | R>L | No |
ExAC TOPMed gnomAD |
|
rs2072976307 | 1754 | N>D | No | Ensembl | |
rs756709927 | 1754 | N>S | No |
ExAC TOPMed gnomAD |
|
rs2142253871 | 1757 | E>K | No | Ensembl | |
COSM3402585 | 1757 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM975277 | 1760 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1467402715 | 1761 | K>R | No | Ensembl | |
rs753825237 | 1764 | T>I | No |
ExAC TOPMed gnomAD |
|
rs1192114177 | 1765 | D>E | No |
TOPMed gnomAD |
|
COSM6145625 | 1765 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs141867810 | 1766 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs148125991 | 1766 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM3513805 | 1768 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM180586 rs1411514954 |
1768 | M>T | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
rs1273924819 | 1768 | M>V | No |
TOPMed gnomAD |
|
rs143757824 | 1769 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
rs780882788 | 1769 | M>V | No |
ExAC gnomAD |
|
rs751875888 | 1770 | A>V | No |
ExAC gnomAD |
|
rs2072974497 | 1772 | E>* | No |
TOPMed gnomAD |
|
rs763187441 | 1772 | E>A | No |
ExAC TOPMed gnomAD |
|
rs2072974497 | 1772 | E>K | No |
TOPMed gnomAD |
|
rs763187441 | 1772 | E>V | No |
ExAC TOPMed gnomAD |
|
COSM1324188 | 1776 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs141339850 COSM109277 |
1776 | E>K | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
rs956005247 | 1777 | Q>E | No | TOPMed | |
rs375606470 | 1778 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
COSM3513804 rs369514452 |
1778 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs369514452 | 1778 | D>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1269228506 | 1779 | T>N | No |
TOPMed gnomAD |
|
rs770557823 | 1781 | A>S | No |
ExAC TOPMed gnomAD |
|
COSM975276 rs770557823 |
1781 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs748917868 | 1782 | H>D | No |
ExAC TOPMed gnomAD |
|
rs777156430 | 1782 | H>L | No |
ExAC gnomAD |
|
rs748917868 | 1782 | H>N | No |
ExAC TOPMed gnomAD |
|
rs748060601 | 1784 | E>* | No |
ExAC gnomAD |
|
rs754857698 | 1784 | E>D | No |
ExAC TOPMed gnomAD |
|
rs2072973882 | 1784 | E>G | No |
TOPMed gnomAD |
|
rs748060601 | 1784 | E>Q | No |
ExAC gnomAD |
|
rs139004562 | 1785 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
rs370889656 | 1785 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
rs370889656 COSM3513803 |
1785 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs139004562 COSM5055207 |
1785 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1597433708 | 1789 | N>T | No | Ensembl | |
rs750590975 | 1790 | L>P | No |
ExAC TOPMed gnomAD |
|
COSM4394124 | 1791 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2142253575 | 1791 | E>Q | No | Ensembl | |
TCGA novel rs2072973523 |
1792 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs202246274 COSM1380782 |
1793 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1567714341 | 1794 | V>A | No | Ensembl | |
rs2142253558 | 1794 | V>M | No | Ensembl | |
rs754344353 | 1795 | K>N | No |
ExAC gnomAD |
|
rs2072973344 | 1795 | K>R | No |
TOPMed gnomAD |
|
rs930372626 | 1796 | D>A | No |
TOPMed gnomAD |
|
rs930372626 | 1796 | D>G | No |
TOPMed gnomAD |
|
rs761086840 | 1797 | L>P | No |
ExAC gnomAD |
|
rs761086840 | 1797 | L>R | No |
ExAC gnomAD |
|
rs1397303939 | 1798 | Q>H | No | gnomAD | |
rs376360977 | 1799 | H>L | No | Ensembl | |
rs376360977 | 1799 | H>R | No | Ensembl | |
COSM4898655 rs377494042 |
1800 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA gnomAD |
rs377494042 | 1800 | R>G | No |
ESP ExAC gnomAD |
|
COSM116783 rs145148453 |
1800 | R>H | ovary [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs750670553 | 1802 | D>G | No |
ExAC TOPMed gnomAD |
|
rs750670553 | 1802 | D>V | No |
ExAC TOPMed gnomAD |
|
COSM4853211 | 1803 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1161808958 | 1805 | E>K | No | gnomAD | |
rs140873918 | 1806 | Q>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1363758787 | 1807 | L>R | No |
TOPMed gnomAD |
|
rs747660770 | 1808 | A>G | No |
ExAC TOPMed gnomAD |
|
COSM5972035 | 1808 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs747660770 | 1808 | A>V | No |
ExAC TOPMed gnomAD |
|
rs776772381 | 1809 | L>P | No |
ExAC gnomAD |
|
COSM1479214 | 1809 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1597433636 | 1810 | K>E | No | Ensembl | |
rs746885742 | 1811 | G>A | No |
ExAC gnomAD |
|
rs2072972319 | 1812 | G>R | No | TOPMed | |
rs779998753 | 1813 | K>E | No |
ExAC TOPMed gnomAD |
|
rs1209093092 | 1816 | I>T | No | gnomAD | |
rs1372154444 | 1817 | Q>H | No |
TOPMed gnomAD |
|
rs146410774 | 1821 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1234094684 | 1821 | A>S | No | TOPMed | |
rs1246831492 | 1822 | R>S | No |
TOPMed gnomAD |
|
rs1169475148 | 1823 | V>A | No | gnomAD | |
rs1392042407 | 1823 | V>F | No |
TOPMed gnomAD |
|
rs1392042407 | 1823 | V>I | No |
TOPMed gnomAD |
|
rs376061795 COSM975275 |
1824 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP NCI-TCGA TOPMed gnomAD |
rs373056400 | 1824 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
rs201535361 | 1825 | E>* | No | Ensembl | |
rs1210917470 | 1827 | E>K | No | TOPMed | |
rs2142252990 | 1828 | G>A | No | Ensembl | |
rs267604708 | 1830 | V>A | No | TOPMed | |
rs776155566 | 1830 | V>F | No |
ExAC TOPMed gnomAD |
|
rs776155566 | 1830 | V>L | No |
ExAC TOPMed gnomAD |
|
rs369738946 | 1831 | E>A | No |
ESP ExAC TOPMed gnomAD |
|
rs1373349352 | 1832 | S>R | No | TOPMed | |
rs2072968540 | 1834 | Q>L | No | TOPMed | |
rs751936469 COSM4983437 |
1836 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs751936469 | 1836 | R>G | No |
ExAC TOPMed gnomAD |
|
rs376702386 | 1836 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs901830753 | 1838 | V>A | No |
TOPMed gnomAD |
|
rs901830753 | 1838 | V>G | No |
TOPMed gnomAD |
|
COSM4397773 | 1839 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2142252941 | 1840 | A>T | No | Ensembl | |
rs1597433456 | 1843 | G>D | No | Ensembl | |
rs1039075314 COSM1582330 |
1845 | R>C | Variant assessed as Somatic; MODERATE impact. stomach [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs1039075314 | 1845 | R>G | No |
TOPMed gnomAD |
|
rs763718197 COSM5009284 |
1845 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs1039075314 | 1845 | R>S | No |
TOPMed gnomAD |
|
rs199988970 | 1846 | K>E | No | 1000Genomes | |
rs775638553 | 1847 | H>L | No |
ExAC gnomAD |
|
rs775638553 | 1847 | H>P | No |
ExAC gnomAD |
|
rs775638553 | 1847 | H>R | No |
ExAC gnomAD |
|
rs772034673 | 1848 | E>K | No |
ExAC gnomAD |
|
rs1597433438 | 1850 | K>R | No | Ensembl | |
rs201016485 | 1851 | V>M | No | 1000Genomes | |
rs575159783 | 1853 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM3513799 | 1853 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1403570416 | 1854 | L>H | No | gnomAD | |
rs1403570416 | 1854 | L>P | No | gnomAD | |
rs774201277 | 1855 | T>I | No |
ExAC TOPMed gnomAD |
|
COSM1520160 COSM6145626 rs774201277 |
1855 | T>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs760321585 | 1858 | T>A | No |
ExAC TOPMed gnomAD |
|
rs1256875594 | 1859 | E>K | No |
TOPMed gnomAD |
|
rs1567714039 | 1860 | E>D | No | gnomAD | |
rs752265147 | 1860 | E>K | No |
ExAC gnomAD |
|
rs151180649 | 1861 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs201454258 | 1862 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs770764395 COSM1630049 |
1862 | R>H | liver [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs770764395 | 1862 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs201454258 | 1862 | R>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs762709228 | 1863 | K>R | No |
ExAC TOPMed gnomAD |
|
rs1238637176 | 1864 | N>S | No | gnomAD | |
rs959607445 | 1865 | I>M | No | gnomAD | |
rs769987342 | 1866 | L>F | No |
ExAC TOPMed gnomAD |
|
rs2142252721 | 1867 | R>S | No | 1000Genomes | |
COSM6080147 | 1867 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs200755710 | 1868 | L>H | No |
1000Genomes TOPMed gnomAD |
|
rs200755710 | 1868 | L>P | No |
1000Genomes TOPMed gnomAD |
|
rs200755710 | 1868 | L>R | No |
1000Genomes TOPMed gnomAD |
|
rs1262966974 | 1870 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs2072965787 | 1872 | V>A | No | Ensembl | |
rs1308355071 | 1872 | V>M | No |
TOPMed gnomAD |
|
rs768577746 | 1873 | D>E | No |
ExAC TOPMed gnomAD |
|
rs370097795 | 1875 | L>P | No | ESP | |
rs370097795 | 1875 | L>Q | No | ESP | |
rs113094707 | 1876 | Q>* | No | Ensembl | |
rs747573196 | 1877 | A>T | No |
ExAC gnomAD |
|
rs534377341 | 1878 | K>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2072965480 | 1879 | V>G | No |
TOPMed gnomAD |
|
rs1405580405 | 1879 | V>L | No | gnomAD | |
rs1405580405 | 1879 | V>M | No | gnomAD | |
rs758872080 | 1880 | K>Q | No |
ExAC gnomAD |
|
COSM1709853 | 1881 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs746223405 | 1882 | Y>C | No |
ExAC gnomAD |
|
rs985077861 | 1882 | Y>H | No | Ensembl | |
rs2072965329 | 1883 | K>R | No |
TOPMed gnomAD |
|
rs142153967 | 1884 | R>K | No |
ESP ExAC TOPMed gnomAD |
|
rs142153967 | 1884 | R>T | No |
ESP ExAC TOPMed gnomAD |
|
rs140473978 | 1885 | Q>* | No |
ESP TOPMed gnomAD |
|
rs2072965156 | 1886 | A>T | No |
TOPMed gnomAD |
|
COSM6145627 | 1888 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1398879315 | 1888 | E>Q | No |
TOPMed gnomAD |
|
rs147195989 | 1889 | A>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs147195989 | 1889 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs776950904 | 1891 | E>D | No |
ExAC TOPMed gnomAD |
|
COSM5718440 | 1891 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs761490755 | 1891 | E>V | No |
ExAC TOPMed gnomAD |
|
rs1294635751 | 1892 | Q>* | No | gnomAD | |
rs1294635751 | 1892 | Q>K | No | gnomAD | |
rs937317101 | 1892 | Q>R | No | Ensembl | |
rs746337549 | 1893 | S>F | No |
ExAC gnomAD |
|
rs764216553 | 1893 | S>P | No |
ExAC TOPMed gnomAD |
|
rs746337549 | 1893 | S>Y | No |
ExAC gnomAD |
|
rs760143687 | 1895 | V>I | No |
ExAC TOPMed gnomAD |
|
rs1309290286 | 1896 | N>S | No |
TOPMed gnomAD |
|
rs868459535 COSM975274 |
1897 | L>F | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
rs1462211812 | 1897 | L>P | No | gnomAD | |
rs1468215277 | 1899 | K>R | No | gnomAD | |
rs556246573 COSM5933612 |
1901 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
COSM975273 rs749613856 |
1901 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1597432519 | 1902 | R>K | No | TOPMed | |
rs149572767 | 1903 | I>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1567713452 | 1904 | Q>* | No | Ensembl | |
rs1200867009 | 1904 | Q>P | No | gnomAD | |
rs2072945341 | 1905 | H>N | No | Ensembl | |
rs368680249 COSM3513797 |
1906 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs757851801 | 1908 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs778789491 | 1909 | E>G | No |
ExAC gnomAD |
|
rs370223448 | 1909 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs199500054 | 1910 | A>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs199500054 | 1910 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs199500054 | 1910 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs771127734 | 1910 | A>V | No |
TOPMed gnomAD |
|
rs375954606 | 1911 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1912 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM2925048 | 1912 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs150858988 | 1913 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
rs200090517 | 1913 | R>P | No |
ExAC TOPMed gnomAD |
|
rs200090517 | 1913 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs150858988 | 1913 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
rs759661049 | 1914 | A>T | No |
ExAC gnomAD |
|
rs775067867 | 1916 | I>N | No |
ExAC TOPMed gnomAD |
|
rs775067867 | 1916 | I>T | No |
ExAC TOPMed gnomAD |
|
rs867789092 | 1916 | I>V | No | Ensembl | |
rs370774399 | 1917 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
rs370774399 | 1917 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
COSM4941170 | 1917 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072944403 | 1918 | E>A | No | TOPMed | |
rs2072944356 | 1918 | E>D | No | Ensembl | |
rs536586200 | 1919 | S>C | No |
1000Genomes ExAC gnomAD |
|
rs536586200 | 1919 | S>F | No |
1000Genomes ExAC gnomAD |
|
rs949786606 | 1919 | S>P | No |
TOPMed gnomAD |
|
rs949786606 | 1919 | S>T | No |
TOPMed gnomAD |
|
rs536586200 | 1919 | S>Y | No |
1000Genomes ExAC gnomAD |
|
rs1408839092 | 1922 | N>K | No | gnomAD | |
COSM1302401 | 1923 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1177577426 | 1924 | L>R | No | gnomAD | |
rs918254716 | 1924 | L>V | No |
TOPMed gnomAD |
|
rs1480421636 | 1925 | R>K | No | gnomAD | |
rs2072943826 | 1926 | V>E | No | Ensembl | |
rs1430421511 | 1928 | S>N | No |
TOPMed gnomAD |
|
rs1597432439 | 1931 | V>I | No | Ensembl | |
rs2072943623 | 1932 | H>R | No | Ensembl | |
rs2072943486 | 1933 | T>A | No | TOPMed | |
rs1249824117 | 1933 | T>I | No | gnomAD | |
rs1249824117 | 1933 | T>K | No | gnomAD | |
rs1567713390 | 1934 | K>E | No | TOPMed | |
rs770151980 | 1935 | I>V | No |
ExAC gnomAD |
|
rs1597432418 | 1936 | I>R | No | Ensembl | |
rs2142249922 | 1936 | I>V | No | Ensembl | |
TCGA novel | 1937 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs771610502 | 1937 | S>N | No |
ExAC TOPMed gnomAD |
|
rs745375501 | 1937 | S>R | No |
ExAC TOPMed gnomAD |
|
rs771610502 | 1937 | S>T | No |
ExAC TOPMed gnomAD |
|
COSM4553133 | 1938 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs985793688 | 1939 | E>G | No | TOPMed | |
rs778877740 | 1939 | E>K | No |
ExAC TOPMed gnomAD |
|
rs757148135 | 1940 | E>E | No |
ExAC gnomAD |
No associated diseases with P12882
7 regional properties for P12882
Type | Name | Position | InterPro Accession |
---|---|---|---|
domain | Protein kinase domain | 34 - 299 | IPR000719 |
domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 111 - 124 | IPR001245-1 |
domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 151 - 169 | IPR001245-2 |
domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 217 - 239 | IPR001245-3 |
domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 263 - 285 | IPR001245-4 |
active_site | Serine/threonine-protein kinase, active site | 157 - 169 | IPR008271 |
binding_site | Protein kinase, ATP binding site | 40 - 63 | IPR017441 |
7 GO annotations of cellular component
Name | Definition |
---|---|
A band | The dark-staining region of a sarcomere, in which myosin thick filaments are present; the center is traversed by the paler H zone, which in turn contains the M line. |
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
cytoplasmic ribonucleoprotein granule | A ribonucleoprotein granule located in the cytoplasm. |
intercalated disc | A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells. |
muscle myosin complex | A filament of myosin found in a muscle cell of any type. |
myosin filament | A supramolecular fiber containing myosin heavy chains, plus associated light chains and other proteins, in which the myosin heavy chains are arranged into a filament. |
myosin II complex | A myosin complex containing two class II myosin heavy chains, two myosin essential light chains and two myosin regulatory light chains. Also known as classical myosin or conventional myosin, the myosin II class includes the major muscle myosin of vertebrate and invertebrate muscle, and is characterized by alpha-helical coiled coil tails that self assemble to form a variety of filament structures. |
4 GO annotations of molecular function
Name | Definition |
---|---|
actin filament binding | Binding to an actin filament, also known as F-actin, a helical filamentous polymer of globular G-actin subunits. |
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
microfilament motor activity | A motor activity that generates movement along a microfilament, driven by ATP hydrolysis. |
1 GO annotations of biological process
Name | Definition |
---|---|
muscle contraction | A process in which force is generated within muscle tissue, resulting in a change in muscle geometry. Force generation involves a chemo-mechanical energy conversion step that is carried out by the actin/myosin complex activity, which generates force through ATP hydrolysis. |
46 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q9BE41 | MYH2 | Myosin-2 | Bos taurus (Bovine) | SS |
Q27991 | MYH10 | Myosin-10 | Bos taurus (Bovine) | SS |
Q9BE39 | MYH7 | Myosin-7 | Bos taurus (Bovine) | SS |
Q9BE40 | MYH1 | Myosin-1 | Bos taurus (Bovine) | SS |
P10587 | MYH11 | Myosin-11 | Gallus gallus (Chicken) | SS |
P14105 | MYH9 | Myosin-9 | Gallus gallus (Chicken) | SS |
P13538 | Myosin heavy chain, skeletal muscle, adult | Gallus gallus (Chicken) | SS | |
P02565 | MYH1B | Myosin-1B | Gallus gallus (Chicken) | SS |
Q99323 | zip | Myosin heavy chain, non-muscle | Drosophila melanogaster (Fruit fly) | SS |
P05661 | Mhc | Myosin heavy chain, muscle | Drosophila melanogaster (Fruit fly) | SS |
A7E2Y1 | MYH7B | Myosin-7B | Homo sapiens (Human) | SS |
P11055 | MYH3 | Myosin-3 | Homo sapiens (Human) | SS |
P12883 | MYH7 | Myosin-7 | Homo sapiens (Human) | EV |
P13533 | MYH6 | Myosin-6 | Homo sapiens (Human) | SS |
P13535 | MYH8 | Myosin-8 | Homo sapiens (Human) | SS |
Q9UKX3 | MYH13 | Myosin-13 | Homo sapiens (Human) | SS |
Q9Y2K3 | MYH15 | Myosin-15 | Homo sapiens (Human) | SS |
Q9Y623 | MYH4 | Myosin-4 | Homo sapiens (Human) | SS |
Q9UKX2 | MYH2 | Myosin-2 | Homo sapiens (Human) | SS |
P35580 | MYH10 | Myosin-10 | Homo sapiens (Human) | SS |
P35749 | MYH11 | Myosin-11 | Homo sapiens (Human) | SS |
P35579 | MYH9 | Myosin-9 | Homo sapiens (Human) | SS |
Q7Z406 | MYH14 | Myosin-14 | Homo sapiens (Human) | SS |
Q8VDD5 | Myh9 | Myosin-9 | Mus musculus (Mouse) | SS |
Q5SX39 | Myh4 | Myosin-4 | Mus musculus (Mouse) | SS |
P13542 | Myh8 | Myosin-8 | Mus musculus (Mouse) | SS |
Q02566 | Myh6 | Myosin-6 | Mus musculus (Mouse) | SS |
O08638 | Myh11 | Myosin-11 | Mus musculus (Mouse) | SS |
A2AQP0 | Myh7b | Myosin-7B | Mus musculus (Mouse) | SS |
Q61879 | Myh10 | Myosin-10 | Mus musculus (Mouse) | SS |
Q91Z83 | Myh7 | Myosin-7 | Mus musculus (Mouse) | SS |
Q6URW6 | Myh14 | Myosin-14 | Mus musculus (Mouse) | SS |
P13541 | Myh3 | Myosin-3 | Mus musculus (Mouse) | SS |
Q5SX40 | Myh1 | Myosin-1 | Mus musculus (Mouse) | SS |
P79293 | MYH7 | Myosin-7 | Sus scrofa (Pig) | SS |
Q9TV63 | MYH2 | Myosin-2 | Sus scrofa (Pig) | SS |
P12847 | Myh3 | Myosin-3 | Rattus norvegicus (Rat) | SS |
P02563 | Myh6 | Myosin-6 | Rattus norvegicus (Rat) | SS |
P02564 | Myh7 | Myosin-7 | Rattus norvegicus (Rat) | SS |
Q62812 | Myh9 | Myosin-9 | Rattus norvegicus (Rat) | SS |
Q29RW1 | Myh4 | Myosin-4 | Rattus norvegicus (Rat) | SS |
Q9JLT0 | Myh10 | Myosin-10 | Rattus norvegicus (Rat) | SS |
P02566 | unc-54 | Myosin-4 | Caenorhabditis elegans | SS |
P02567 | myo-1 | Myosin-1 | Caenorhabditis elegans | SS |
P12844 | myo-3 | Myosin-3 | Caenorhabditis elegans | SS |
P12845 | myo-2 | Myosin-2 | Caenorhabditis elegans | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MSSDSEMAIF | GEAAPFLRKS | ERERIEAQNK | PFDAKTSVFV | VDPKESFVKA | TVQSREGGKV |
70 | 80 | 90 | 100 | 110 | 120 |
TAKTEAGATV | TVKDDQVFPM | NPPKYDKIED | MAMMTHLHEP | AVLYNLKERY | AAWMIYTYSG |
130 | 140 | 150 | 160 | 170 | 180 |
LFCVTVNPYK | WLPVYNAEVV | TAYRGKKRQE | APPHIFSISD | NAYQFMLTDR | ENQSILITGE |
190 | 200 | 210 | 220 | 230 | 240 |
SGAGKTVNTK | RVIQYFATIA | VTGEKKKEEV | TSGKMQGTLE | DQIISANPLL | EAFGNAKTVR |
250 | 260 | 270 | 280 | 290 | 300 |
NDNSSRFGKF | IRIHFGTTGK | LASADIETYL | LEKSRVTFQL | KAERSYHIFY | QIMSNKKPDL |
310 | 320 | 330 | 340 | 350 | 360 |
IEMLLITTNP | YDYAFVSQGE | ITVPSIDDQE | ELMATDSAIE | ILGFTSDERV | SIYKLTGAVM |
370 | 380 | 390 | 400 | 410 | 420 |
HYGNMKFKQK | QREEQAEPDG | TEVADKAAYL | QNLNSADLLK | ALCYPRVKVG | NEYVTKGQTV |
430 | 440 | 450 | 460 | 470 | 480 |
QQVYNAVGAL | AKAVYDKMFL | WMVTRINQQL | DTKQPRQYFI | GVLDIAGFEI | FDFNSLEQLC |
490 | 500 | 510 | 520 | 530 | 540 |
INFTNEKLQQ | FFNHHMFVLE | QEEYKKEGIE | WTFIDFGMDL | AACIELIEKP | MGIFSILEEE |
550 | 560 | 570 | 580 | 590 | 600 |
CMFPKATDTS | FKNKLYEQHL | GKSNNFQKPK | PAKGKPEAHF | SLIHYAGTVD | YNIAGWLDKN |
610 | 620 | 630 | 640 | 650 | 660 |
KDPLNETVVG | LYQKSAMKTL | ALLFVGATGA | EAEAGGGKKG | GKKKGSSFQT | VSALFRENLN |
670 | 680 | 690 | 700 | 710 | 720 |
KLMTNLRSTH | PHFVRCIIPN | ETKTPGAMEH | ELVLHQLRCN | GVLEGIRICR | KGFPSRILYA |
730 | 740 | 750 | 760 | 770 | 780 |
DFKQRYKVLN | ASAIPEGQFI | DSKKASEKLL | GSIDIDHTQY | KFGHTKVFFK | AGLLGLLEEM |
790 | 800 | 810 | 820 | 830 | 840 |
RDEKLAQLIT | RTQAMCRGFL | ARVEYQKMVE | RRESIFCIQY | NVRAFMNVKH | WPWMKLYFKI |
850 | 860 | 870 | 880 | 890 | 900 |
KPLLKSAETE | KEMANMKEEF | EKTKEELAKT | EAKRKELEEK | MVTLMQEKND | LQLQVQAEAD |
910 | 920 | 930 | 940 | 950 | 960 |
SLADAEERCD | QLIKTKIQLE | AKIKEVTERA | EDEEEINAEL | TAKKRKLEDE | CSELKKDIDD |
970 | 980 | 990 | 1000 | 1010 | 1020 |
LELTLAKVEK | EKHATENKVK | NLTEEMAGLD | ETIAKLTKEK | KALQEAHQQT | LDDLQAEEDK |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
VNTLTKAKIK | LEQQVDDLEG | SLEQEKKIRM | DLERAKRKLE | GDLKLAQEST | MDIENDKQQL |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
DEKLKKKEFE | MSGLQSKIED | EQALGMQLQK | KIKELQARIE | ELEEEIEAER | ASRAKAEKQR |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
SDLSRELEEI | SERLEEAGGA | TSAQIEMNKK | REAEFQKMRR | DLEEATLQHE | ATAATLRKKH |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
ADSVAELGEQ | IDNLQRVKQK | LEKEKSEMKM | EIDDLASNME | TVSKAKGNLE | KMCRALEDQL |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
SEIKTKEEEQ | QRLINDLTAQ | RARLQTESGE | YSRQLDEKDT | LVSQLSRGKQ | AFTQQIEELK |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
RQLEEEIKAK | SALAHALQSS | RHDCDLLREQ | YEEEQEAKAE | LQRAMSKANS | EVAQWRTKYE |
1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
TDAIQRTEEL | EEAKKKLAQR | LQDAEEHVEA | VNAKCASLEK | TKQRLQNEVE | DLMIDVERTN |
1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
AACAALDKKQ | RNFDKILAEW | KQKCEETHAE | LEASQKESRS | LSTELFKIKN | AYEESLDQLE |
1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
TLKRENKNLQ | QEISDLTEQI | AEGGKRIHEL | EKIKKQVEQE | KSELQAALEE | AEASLEHEEG |
1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
KILRIQLELN | QVKSEVDRKI | AEKDEEIDQM | KRNHIRIVES | MQSTLDAEIR | SRNDAIRLKK |
1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
KMEGDLNEME | IQLNHANRMA | AEALRNYRNT | QAILKDTQLH | LDDALRSQED | LKEQLAMVER |
1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
RANLLQAEIE | ELRATLEQTE | RSRKIAEQEL | LDASERVQLL | HTQNTSLINT | KKKLETDISQ |
1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
IQGEMEDIIQ | EARNAEEKAK | KAITDAAMMA | EELKKEQDTS | AHLERMKKNL | EQTVKDLQHR |
1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
LDEAEQLALK | GGKKQIQKLE | ARVRELEGEV | ESEQKRNVEA | VKGLRKHERK | VKELTYQTEE |
1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
DRKNILRLQD | LVDKLQAKVK | SYKRQAEEAE | EQSNVNLSKF | RRIQHELEEA | EERADIAESQ |
1930 | |||||
VNKLRVKSRE | VHTKIISEE |