Q9Y623
Gene name |
MYH4 |
Protein name |
Myosin-4 |
Names |
Myosin heavy chain 2b , MyHC-2b , Myosin heavy chain 4 , Myosin heavy chain IIb , MyHC-IIb , Myosin heavy chain, skeletal muscle, fetal |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:4622 |
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 Q9Y623
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-Q9Y623-F1 | Predicted | AlphaFoldDB |
2318 variants for Q9Y623
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
rs2072772718 | 2 | S>C | No | gnomAD | |
rs1359475796 | 3 | S>C | No | gnomAD | |
rs1359475796 | 3 | S>F | No | gnomAD | |
rs770428124 | 3 | S>T | No |
ExAC gnomAD |
|
rs377285217 | 4 | D>N | No |
ESP TOPMed gnomAD |
|
rs868721230 | 5 | S>F | No | Ensembl | |
rs1449931934 | 5 | S>P | No |
TOPMed gnomAD |
|
rs1449931934 | 5 | S>T | No |
TOPMed gnomAD |
|
rs868721230 | 5 | S>Y | No | Ensembl | |
rs777738860 | 6 | E>D | No |
ExAC TOPMed gnomAD |
|
rs2072772447 | 6 | E>K | No | gnomAD | |
rs1383307762 | 7 | M>T | No | gnomAD | |
TCGA novel | 10 | F>L | Variant assessed as Somatic; HIGH impact. Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1322027113 | 10 | F>S | No |
TOPMed gnomAD |
|
rs1044023429 | 11 | G>E | No | gnomAD | |
rs756042927 | 11 | G>R | No |
ExAC gnomAD |
|
rs1044023429 | 11 | G>V | No | gnomAD | |
rs747948486 | 12 | E>A | No |
ExAC TOPMed gnomAD |
|
rs375569040 | 12 | E>K | No |
ESP TOPMed gnomAD |
|
rs781080342 | 13 | A>P | No |
ExAC TOPMed gnomAD |
|
rs781080342 | 13 | A>S | No |
ExAC TOPMed gnomAD |
|
rs2072772137 | 14 | A>V | No | TOPMed | |
rs1163250734 | 15 | P>S | No | gnomAD | |
rs2072772074 | 16 | F>L | No | Ensembl | |
rs373223401 COSM3969804 |
18 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM5733320 rs751788154 |
18 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed |
rs914038789 | 20 | S>P | No | Ensembl | |
COSM3513796 | 21 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1243685279 | 21 | E>V | No | gnomAD | |
rs2072771752 | 22 | K>R | No | TOPMed | |
rs766388862 | 23 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs774558015 | 24 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs939415421 | 24 | R>L | No |
TOPMed gnomAD |
|
COSM1686246 rs939415421 |
24 | R>Q | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs765768632 | 25 | I>T | No |
ExAC TOPMed gnomAD |
|
rs750932512 | 25 | I>V | No |
ExAC gnomAD |
|
rs2072771484 | 26 | E>K | No | gnomAD | |
rs1290394447 | 27 | A>V | No | gnomAD | |
rs776992473 | 28 | Q>H | No |
ExAC gnomAD |
|
rs1453075499 | 29 | N>K | No | gnomAD | |
rs2072771296 | 30 | K>M | No | Ensembl | |
TCGA novel | 31 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1424713706 | 32 | F>S | No |
TOPMed gnomAD |
|
rs1228641448 | 32 | F>V | No | gnomAD | |
rs368975834 | 33 | D>E | No |
ESP ExAC gnomAD |
|
rs748830032 | 34 | A>D | No |
ExAC TOPMed gnomAD |
|
rs748830032 | 34 | A>G | No |
ExAC TOPMed gnomAD |
|
rs774033944 | 34 | A>S | No |
ExAC gnomAD |
|
rs748830032 | 34 | A>V | No |
ExAC TOPMed gnomAD |
|
COSM5009283 rs1367205728 |
35 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
rs1464040003 | 36 | T>I | No |
TOPMed gnomAD |
|
rs1276154155 | 40 | V>L | No | gnomAD | |
rs2072770854 | 41 | V>A | No | TOPMed | |
rs2072770884 | 41 | V>M | No | gnomAD | |
rs1302608656 | 43 | P>S | No | gnomAD | |
rs1302608656 | 43 | P>T | No | gnomAD | |
rs1228582323 | 45 | E>A | No | gnomAD | |
TCGA novel | 45 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072770723 | 46 | S>F | No | TOPMed | |
rs2142234575 | 47 | Y>F | No | Ensembl | |
rs781161200 | 48 | V>L | No |
ExAC gnomAD |
|
rs781161200 | 48 | V>M | No |
ExAC gnomAD |
|
rs2072770570 | 49 | K>Q | No | TOPMed | |
rs2072770543 | 50 | A>E | No | Ensembl | |
rs2142234547 | 51 | I>T | No | Ensembl | |
rs2072770517 | 51 | I>V | No | TOPMed | |
rs1438206654 | 52 | V>A | No | gnomAD | |
rs1474968893 | 52 | V>M | No | gnomAD | |
rs1490489730 | 53 | Q>H | No |
TOPMed gnomAD |
|
rs2072770373 | 53 | Q>K | No | TOPMed | |
rs754767744 | 53 | Q>L | No |
ExAC gnomAD |
|
rs952118058 | 56 | E>K | No | gnomAD | |
rs371573424 | 57 | G>A | No |
ESP ExAC TOPMed gnomAD |
|
rs371573424 | 57 | G>E | No |
ESP ExAC TOPMed gnomAD |
|
rs780288488 | 57 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs371573424 | 57 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
rs780288488 | 57 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1194805206 | 58 | G>E | No |
TOPMed gnomAD |
|
rs138503520 | 58 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
rs1482748292 | 59 | K>E | No |
TOPMed gnomAD |
|
TCGA novel | 59 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072769992 | 60 | V>M | No | TOPMed | |
rs1276681449 | 61 | T>A | No | gnomAD | |
rs760998879 | 61 | T>I | No |
ExAC TOPMed gnomAD |
|
rs1276681449 | 61 | T>S | No | gnomAD | |
rs148833814 COSM3988759 |
62 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
rs2072769804 | 62 | A>V | No | Ensembl | |
rs2072769736 | 64 | T>A | No | TOPMed | |
rs568753493 | 64 | T>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs762459588 | 65 | E>K | No |
ExAC TOPMed gnomAD |
|
rs762459588 | 65 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs997365388 | 67 | G>R | No |
TOPMed gnomAD |
|
rs200355989 | 68 | A>T | No | 1000Genomes | |
rs1863214670 COSM3722660 |
68 | A>V | upper_aerodigestive_tract [Cosmic] | No |
cosmic curated Ensembl |
COSM1493785 | 69 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1290019056 | 71 | T>N | No | TOPMed | |
rs2142234242 | 75 | D>E | No | Ensembl | |
rs1441290618 | 76 | Q>* | No |
TOPMed gnomAD |
|
rs1441290618 | 76 | Q>E | No |
TOPMed gnomAD |
|
rs1441290618 | 76 | Q>K | No |
TOPMed gnomAD |
|
rs778250029 | 76 | Q>R | No |
ExAC gnomAD |
|
rs564085770 | 78 | F>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2072767702 | 80 | M>I | No | TOPMed | |
rs200791457 | 80 | M>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs200791457 | 80 | M>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1404997745 | 81 | N>K | No | gnomAD | |
rs1020378970 | 82 | P>L | No | Ensembl | |
COSM417205 rs112133139 |
83 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs762701752 | 84 | K>R | No |
ExAC gnomAD |
|
rs749991966 | 85 | Y>* | No |
ExAC TOPMed gnomAD |
|
rs2142234198 | 85 | Y>F | No | Ensembl | |
rs1408136896 | 86 | D>E | No |
TOPMed gnomAD |
|
rs950287139 | 86 | D>N | No | TOPMed | |
rs1174174343 | 88 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
COSM276214 | 89 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1176095706 | 90 | D>N | No | gnomAD | |
rs1183764259 | 91 | M>I | No |
TOPMed gnomAD |
|
rs761372918 | 91 | M>T | No |
ExAC gnomAD |
|
rs374349346 | 91 | M>V | No |
ESP ExAC gnomAD |
|
TCGA novel | 92 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs776774026 | 93 | M>I | No |
ExAC gnomAD |
|
rs2072766979 | 93 | M>T | No | TOPMed | |
rs1462049379 | 93 | M>V | No | gnomAD | |
rs768700760 | 95 | T>I | No |
ExAC TOPMed gnomAD |
|
rs760469402 | 96 | H>N | No |
ExAC gnomAD |
|
rs1285526025 | 96 | H>Q | No |
TOPMed gnomAD |
|
rs370416064 | 97 | L>P | No |
ESP ExAC TOPMed gnomAD |
|
rs370416064 | 97 | L>R | No |
ESP ExAC TOPMed gnomAD |
|
rs1386357652 | 98 | H>Q | No |
TOPMed gnomAD |
|
rs1351526463 | 98 | H>R | No | gnomAD | |
rs771715484 | 99 | E>K | No |
ExAC TOPMed gnomAD |
|
rs746150609 | 100 | P>A | No |
ExAC TOPMed gnomAD |
|
rs746150609 | 100 | P>T | No |
ExAC TOPMed gnomAD |
|
rs779077824 | 101 | A>S | No |
ExAC TOPMed gnomAD |
|
rs779077824 | 101 | A>T | No |
ExAC TOPMed gnomAD |
|
rs2142234077 | 102 | V>M | No | Ensembl | |
rs771066883 | 103 | L>P | No |
ExAC gnomAD |
|
rs2072766436 | 104 | Y>C | No | TOPMed | |
COSM3513794 | 105 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs199862905 | 106 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
rs199862905 | 106 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
rs2072766268 | 107 | K>Q | No | Ensembl | |
rs2072766239 | 107 | K>R | No | TOPMed | |
TCGA novel | 107 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1398468711 | 108 | E>* | No | gnomAD | |
rs1366205253 | 108 | E>D | No |
TOPMed gnomAD |
|
rs1352844042 | 109 | R>C | No |
TOPMed gnomAD |
|
rs1352844042 | 109 | R>G | No |
TOPMed gnomAD |
|
rs777774759 | 109 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
COSM4937221 | 109 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1352844042 | 109 | R>S | No |
TOPMed gnomAD |
|
rs756653851 | 110 | Y>* | No |
ExAC TOPMed gnomAD |
|
rs201896271 | 111 | A>P | No |
ExAC TOPMed gnomAD |
|
rs201896271 | 111 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1180450293 | 113 | W>* | No | gnomAD | |
rs1243211402 | 114 | M>I | No | gnomAD | |
rs755271404 | 114 | M>L | No |
ExAC gnomAD |
|
rs1414737290 | 115 | I>M | No | gnomAD | |
rs750137859 COSM2925039 |
116 | Y>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
rs1403812184 | 119 | S>* | No |
TOPMed gnomAD |
|
rs1403812184 | 119 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
COSM3969803 | 121 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1299593820 | 122 | F>V | No | gnomAD | |
rs2072754520 | 123 | C>F | No | gnomAD | |
rs1597424984 | 125 | T>A | No | Ensembl | |
rs2072754424 | 125 | T>I | No | TOPMed | |
rs1597424984 | 125 | T>P | No | Ensembl | |
rs1258180782 | 126 | V>I | No | Ensembl | |
rs767344958 | 127 | N>K | No |
ExAC gnomAD |
|
rs1597424973 | 127 | N>T | No | Ensembl | |
rs1200712622 | 133 | P>A | No | gnomAD | |
rs774140805 COSM4704627 |
133 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs773280083 | 134 | V>A | No |
ExAC gnomAD |
|
rs773280083 | 134 | V>G | No |
ExAC gnomAD |
|
rs763188898 | 134 | V>L | No |
ExAC gnomAD |
|
rs769953750 COSM313030 |
135 | Y>* | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs748169031 | 136 | N>I | No |
ExAC gnomAD |
|
rs748169031 COSM1709851 |
136 | N>S | skin [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs777251315 | 138 | E>* | No |
ExAC TOPMed gnomAD |
|
rs150104856 | 138 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
rs777251315 | 138 | E>K | No |
ExAC TOPMed gnomAD |
|
rs1308487134 | 139 | V>A | No |
TOPMed gnomAD |
|
rs1308487134 | 139 | V>G | No |
TOPMed gnomAD |
|
rs199887563 | 139 | V>L | No |
1000Genomes ExAC gnomAD |
|
rs1597424921 | 140 | V>A | No | Ensembl | |
rs1597424921 | 140 | V>G | No | Ensembl | |
rs780596065 | 140 | V>L | No |
ExAC gnomAD |
|
TCGA novel | 141 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs758786222 | 141 | T>I | No |
ExAC gnomAD |
|
rs2072752963 | 142 | A>T | No | TOPMed | |
rs2072752890 | 143 | Y>C | No | Ensembl | |
COSM1324189 | 143 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs748989095 | 143 | Y>H | No |
ExAC gnomAD |
|
rs376085859 | 144 | R>* | No |
ESP ExAC TOPMed gnomAD |
|
COSM1162729 rs755708452 |
144 | R>Q | Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs2072752784 | 147 | K>M | No | TOPMed | |
rs1465968113 | 147 | K>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs752164393 | 148 | R>C | No |
ExAC TOPMed gnomAD |
|
rs1161345773 | 148 | R>H | No |
TOPMed gnomAD |
|
rs1161345773 | 148 | R>L | No |
TOPMed gnomAD |
|
rs2072752674 | 150 | E>K | No | Ensembl | |
rs878972380 | 151 | A>G | No | Ensembl | |
TCGA novel | 151 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1567707415 | 151 | A>T | No | gnomAD | |
rs1237827317 | 153 | P>L | No |
TOPMed gnomAD |
|
rs1033497456 | 153 | P>S | No |
TOPMed gnomAD |
|
TCGA novel | 154 | H>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs754941878 | 154 | H>R | No |
ExAC gnomAD |
|
rs2072752297 | 158 | I>F | No | TOPMed | |
rs1480269654 | 158 | I>T | No | TOPMed | |
rs373119093 | 160 | D>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1203008346 | 161 | N>S | No | gnomAD | |
rs2142232712 | 161 | N>Y | No | Ensembl | |
rs762701247 | 162 | A>P | No |
ExAC gnomAD |
|
rs2142232701 | 163 | Y>F | No | Ensembl | |
rs2072751927 | 163 | Y>H | No | TOPMed | |
TCGA novel rs200702064 |
165 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD NCI-TCGA |
rs142071952 | 166 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
rs1337781745 | 167 | L>P | No | gnomAD | |
rs201645314 | 170 | R>C | No |
TOPMed gnomAD |
|
rs765014025 | 170 | R>H | No |
ExAC TOPMed gnomAD |
|
rs765014025 | 170 | R>L | No |
ExAC TOPMed gnomAD |
|
rs765014025 | 170 | R>P | No |
ExAC TOPMed gnomAD |
|
rs201645314 | 170 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs754041471 | 172 | N>K | No |
ExAC TOPMed gnomAD |
|
rs1296381472 | 174 | S>T | No | gnomAD | |
rs764317713 | 175 | I>T | No |
ExAC gnomAD |
|
rs1426583260 | 175 | I>V | No | gnomAD | |
rs1162828183 | 176 | L>F | No | gnomAD | |
rs983643580 | 176 | L>S | No | gnomAD | |
rs760832668 | 177 | I>T | No |
ExAC TOPMed gnomAD |
|
rs563253512 | 178 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs2072741378 | 179 | G>E | No |
TOPMed gnomAD |
|
rs2072741327 | 180 | E>Q | No | Ensembl | |
rs2072741224 | 183 | A>T | No | Ensembl | |
rs267604707 | 184 | G>R | No | Ensembl | |
rs147601968 | 184 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1383486824 | 185 | K>N | No |
TOPMed gnomAD |
|
COSM4063834 | 185 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072740689 | 187 | V>A | No | TOPMed | |
rs1044500998 | 189 | T>K | No |
TOPMed gnomAD |
|
COSM5623151 rs1044500998 |
189 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs1397769225 | 190 | K>R | No | gnomAD | |
rs145268566 | 191 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs145268566 | 191 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs752920475 | 191 | R>H | No |
ExAC TOPMed gnomAD |
|
rs752920475 | 191 | R>P | No |
ExAC TOPMed gnomAD |
|
rs2072740331 | 193 | I>M | No | Ensembl | |
rs767752283 | 193 | I>T | No |
ExAC gnomAD |
|
COSM559473 | 195 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 196 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1951297314 | 196 | F>L | No | TOPMed | |
rs1170327514 | 197 | A>G | No | gnomAD | |
rs755051377 | 199 | I>T | No |
ExAC TOPMed gnomAD |
|
rs2072740147 COSM1324190 |
200 | A>S | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated TOPMed |
rs942242241 | 200 | A>V | No | gnomAD | |
rs2072740033 | 202 | T>I | No | Ensembl | |
TCGA novel | 202 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1405896872 | 202 | T>P | No | gnomAD | |
rs372084185 | 203 | G>R | No |
ESP TOPMed gnomAD |
|
rs773573474 | 206 | K>E | No |
ExAC TOPMed gnomAD |
|
rs773573474 | 206 | K>Q | No |
ExAC TOPMed gnomAD |
|
rs1278487851 | 206 | K>R | No | gnomAD | |
rs765548950 | 208 | E>D | No |
ExAC TOPMed gnomAD |
|
rs201161322 | 209 | E>D | No |
ExAC gnomAD |
|
COSM3889237 rs866666239 |
209 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs1310272773 | 210 | P>A | No |
TOPMed gnomAD |
|
rs1310272773 | 210 | P>S | No |
TOPMed gnomAD |
|
rs1310272773 | 210 | P>T | No |
TOPMed gnomAD |
|
rs1171340342 | 211 | A>S | No |
TOPMed gnomAD |
|
rs1171340342 | 211 | A>T | No |
TOPMed gnomAD |
|
rs181135245 | 211 | A>V | No |
1000Genomes ExAC gnomAD |
|
rs771523160 | 212 | S>P | No |
ExAC gnomAD |
|
rs574670297 | 213 | G>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs759043866 | 217 | G>A | No |
ExAC TOPMed gnomAD |
|
rs1360664518 | 217 | G>R | No | gnomAD | |
rs759043866 | 217 | G>V | No |
ExAC TOPMed gnomAD |
|
rs773942589 | 218 | T>I | No |
ExAC gnomAD |
|
rs2072727592 | 219 | L>F | No |
TOPMed gnomAD |
|
COSM4414440 | 220 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1424767307 | 221 | D>G | No | gnomAD | |
rs368055208 | 221 | D>N | No |
ESP ExAC gnomAD |
|
rs1424767307 | 221 | D>V | No | gnomAD | |
rs368055208 | 221 | D>Y | No |
ESP ExAC gnomAD |
|
rs1413524596 | 222 | Q>K | No |
TOPMed gnomAD |
|
rs769775406 | 224 | I>M | No |
ExAC TOPMed gnomAD |
|
rs548098000 | 227 | N>K | No |
1000Genomes ExAC gnomAD |
|
rs2142230552 | 227 | N>T | No | Ensembl | |
rs199624888 | 228 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes NCI-TCGA |
rs747163042 | 230 | L>P | No |
ExAC TOPMed gnomAD |
|
COSM3513792 | 231 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs549957926 | 232 | A>G | No |
1000Genomes gnomAD |
|
rs549957926 | 232 | A>V | No |
1000Genomes gnomAD |
|
rs780206832 | 233 | F>L | No |
ExAC TOPMed gnomAD |
|
rs374951585 | 234 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
rs374951585 | 234 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
rs374951585 | 234 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
rs1385707345 | 236 | A>D | No | TOPMed | |
rs1385707345 | 236 | A>G | No | TOPMed | |
rs193175434 | 237 | K>Q | No |
1000Genomes ExAC gnomAD |
|
rs1397605994 | 237 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs2072726676 | 239 | V>A | No | TOPMed | |
rs377612250 | 239 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1457087191 | 240 | R>K | No |
TOPMed gnomAD |
|
rs1457087191 | 240 | R>T | No |
TOPMed gnomAD |
|
rs764324804 | 241 | N>S | No |
ExAC TOPMed gnomAD |
|
rs2072726452 | 242 | D>E | No | Ensembl | |
rs1467462249 | 242 | D>G | No | gnomAD | |
COSM472274 rs1467462249 |
242 | D>V | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs759254368 | 243 | N>I | No |
ExAC gnomAD |
|
COSM4396101 | 244 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072726259 | 245 | S>P | No | TOPMed | |
rs1048241901 COSM227893 |
246 | R>C | NS [Cosmic] | No |
cosmic curated TOPMed gnomAD |
rs372114550 | 246 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
rs372114550 | 246 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs2072726016 | 247 | F>C | No | Ensembl | |
rs1567706576 | 247 | F>I | No | Ensembl | |
COSM4063832 | 249 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs761867410 | 249 | K>I | No |
ExAC gnomAD |
|
rs776412551 COSM381435 |
250 | F>L | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs912799280 | 250 | F>S | No |
TOPMed gnomAD |
|
rs2072723104 | 251 | I>T | No | TOPMed | |
rs2072723152 | 251 | I>V | No | Ensembl | |
rs2072723029 | 252 | R>K | No | Ensembl | |
COSM472273 | 252 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs763992009 | 254 | H>Q | No |
ExAC gnomAD |
|
rs760385220 | 255 | F>L | No |
ExAC gnomAD |
|
rs111672577 | 256 | G>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2072722790 | 257 | A>T | No | gnomAD | |
rs1197966840 | 258 | T>I | No | TOPMed | |
rs1440532830 | 259 | G>S | No |
TOPMed gnomAD |
|
TCGA novel | 260 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1379502502 | 261 | L>P | No |
TOPMed gnomAD |
|
TCGA novel | 262 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs141999522 | 262 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel rs1597423618 |
263 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs1597423618 | 263 | S>Y | No | TOPMed | |
rs1425270379 | 264 | A>E | No | gnomAD | |
rs1425270379 | 264 | A>V | No | gnomAD | |
rs774435576 | 265 | D>H | No |
ExAC gnomAD |
|
rs140079499 | 266 | I>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs140079499 | 266 | I>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1349768911 | 267 | E>K | No | gnomAD | |
rs1245564467 | 269 | Y>* | No |
TOPMed gnomAD |
|
COSM4063831 | 269 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1193782859 | 270 | L>P | No | gnomAD | |
rs752519288 | 272 | E>G | No |
ExAC TOPMed gnomAD |
|
rs1283448111 | 272 | E>K | No |
TOPMed gnomAD |
|
rs1283448111 | 272 | E>Q | No |
TOPMed gnomAD |
|
rs1254325812 | 273 | K>N | No |
TOPMed gnomAD |
|
rs143661638 | 274 | S>F | No |
1000Genomes ExAC gnomAD |
|
rs554671029 | 274 | S>T | No |
1000Genomes ExAC gnomAD |
|
rs143661638 | 274 | S>Y | No |
1000Genomes ExAC gnomAD |
|
COSM3818788 rs774524623 |
275 | R>* | Variant assessed as Somatic; HIGH impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 275 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs771062693 | 275 | R>Q | No |
ExAC TOPMed gnomAD |
|
COSM975269 | 279 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM975268 | 279 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1178468943 | 281 | K>T | No |
TOPMed gnomAD |
|
rs1400692065 | 283 | E>V | No | gnomAD | |
COSM5906576 | 284 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1296643224 | 286 | Y>C | No | gnomAD | |
rs1391235754 | 287 | H>N | No | gnomAD | |
rs748652309 | 288 | I>M | No |
ExAC TOPMed gnomAD |
|
COSM435995 | 288 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1255556125 | 288 | I>V | No |
TOPMed gnomAD |
|
rs2072720333 | 289 | F>C | No | Ensembl | |
rs781710090 | 289 | F>V | No |
ExAC TOPMed gnomAD |
|
rs745558442 | 290 | Y>* | No |
ExAC gnomAD |
|
rs769122192 | 290 | Y>H | No |
ExAC gnomAD |
|
COSM3513790 | 291 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM417206 | 291 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072720241 | 292 | I>T | No | Ensembl | |
TCGA novel | 292 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel rs2142229791 |
293 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
COSM3672348 | 294 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs762020284 | 295 | N>T | No |
TOPMed gnomAD |
|
rs146122939 | 296 | K>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1451792201 | 298 | P>L | No | gnomAD | |
rs1265540400 | 299 | E>Q | No |
TOPMed gnomAD |
|
rs2072720037 | 300 | L>R | No | Ensembl | |
rs753301063 | 301 | I>T | No |
ExAC TOPMed gnomAD |
|
rs1029456820 | 303 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
COSM705135 | 304 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs35512085 | 307 | T>P | No | Ensembl | |
rs1232357686 | 309 | N>T | No |
TOPMed gnomAD |
|
rs781091968 COSM3513788 |
310 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs200664872 | 310 | P>S | No | Ensembl | |
COSM472272 | 311 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs143001233 | 311 | Y>H | No |
ESP ExAC TOPMed gnomAD |
|
rs143001233 | 311 | Y>N | No |
ESP ExAC TOPMed gnomAD |
|
rs371118294 | 312 | D>V | No | ESP | |
rs764461718 COSM1520166 |
314 | A>T | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1377965478 | 315 | F>S | No | TOPMed | |
rs758574408 | 319 | G>R | No |
ExAC TOPMed gnomAD |
|
rs758574408 | 319 | G>W | No |
ExAC TOPMed gnomAD |
|
rs1303417762 | 320 | E>A | No | TOPMed | |
rs2142229559 | 322 | T>S | No | Ensembl | |
TCGA novel | 323 | V>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs138320557 | 323 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs199558949 | 324 | P>L | No | gnomAD | |
rs2072717687 | 325 | S>N | No | Ensembl | |
rs1439408309 | 326 | I>T | No | gnomAD | |
rs777336777 | 328 | D>A | No |
ExAC gnomAD |
|
TCGA novel | 329 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs567739039 | 329 | Q>E | No |
1000Genomes ExAC gnomAD |
|
rs1197417662 | 329 | Q>H | No | Ensembl | |
rs35984286 | 329 | Q>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs775748832 | 330 | E>K | No |
ExAC TOPMed gnomAD |
|
rs772459794 | 331 | E>* | No |
ExAC TOPMed gnomAD |
|
rs772459794 | 331 | E>K | No |
ExAC TOPMed gnomAD |
|
rs1310205885 | 331 | E>V | No | gnomAD | |
rs2072717386 | 333 | M>L | No | TOPMed | |
rs1054539402 | 334 | A>D | No |
TOPMed gnomAD |
|
rs1285940566 | 335 | T>K | No |
TOPMed gnomAD |
|
rs1370898440 | 335 | T>P | No | gnomAD | |
rs747754926 | 337 | S>T | No |
ExAC gnomAD |
|
rs776137813 | 338 | A>T | No |
ExAC gnomAD |
|
rs2072696547 | 339 | V>A | No | Ensembl | |
rs1478874873 | 340 | D>N | No | gnomAD | |
rs1333261499 | 341 | I>T | No |
TOPMed gnomAD |
|
rs1201078387 | 343 | G>V | No | TOPMed | |
rs2072696305 | 347 | D>Y | No | Ensembl | |
rs1048644412 | 348 | E>* | No | Ensembl | |
TCGA novel | 348 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3513785 | 348 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1485032147 | 349 | K>M | No |
TOPMed gnomAD |
|
rs200338533 | 349 | K>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 350 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs780039843 | 351 | A>D | No |
ExAC gnomAD |
|
rs866328008 | 351 | A>T | No | Ensembl | |
rs2072696048 | 352 | I>T | No | Ensembl | |
rs1271269356 | 353 | Y>H | No | gnomAD | |
rs2072695972 | 354 | K>T | No | Ensembl | |
rs1318061332 | 356 | T>A | No |
TOPMed gnomAD |
|
rs1318061332 | 356 | T>S | No |
TOPMed gnomAD |
|
rs1567705282 | 357 | G>E | No | Ensembl | |
rs185822918 | 359 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs754065011 | 360 | M>R | No |
ExAC TOPMed gnomAD |
|
rs754065011 | 360 | M>T | No |
ExAC TOPMed gnomAD |
|
rs1293698301 | 361 | H>P | No | gnomAD | |
rs1437639130 | 362 | Y>H | No |
TOPMed gnomAD |
|
rs756258523 COSM3513784 |
365 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD NCI-TCGA Cosmic |
rs2072695590 | 365 | M>T | No | Ensembl | |
rs1415400080 | 366 | K>N | No |
TOPMed gnomAD |
|
rs755765953 | 367 | F>L | No | Ensembl | |
rs2072695451 | 368 | K>Q | No | Ensembl | |
rs2072695368 | 370 | K>E | No | TOPMed | |
rs2072695331 | 372 | R>K | No |
TOPMed gnomAD |
|
TCGA novel | 372 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072695331 | 372 | R>T | No |
TOPMed gnomAD |
|
COSM3513782 | 373 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs148182083 | 373 | E>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs759890777 | 375 | Q>H | No |
ExAC TOPMed gnomAD |
|
rs1422253390 | 375 | Q>R | No |
TOPMed gnomAD |
|
rs1426751240 | 377 | E>V | No | gnomAD | |
rs111251433 | 378 | P>S | No | gnomAD | |
rs766676958 | 379 | D>E | No |
ExAC gnomAD |
|
rs751983408 | 379 | D>H | No |
ExAC TOPMed gnomAD |
|
COSM4855537 rs751983408 |
379 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC TOPMed gnomAD |
rs1250884006 | 380 | G>A | No | gnomAD | |
rs761499700 | 381 | T>M | No |
ExAC TOPMed gnomAD |
|
COSM975267 | 382 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs759569179 | 383 | V>A | No |
ExAC TOPMed gnomAD |
|
rs1312585645 COSM1609825 |
383 | V>I | liver [Cosmic] | No |
cosmic curated TOPMed gnomAD |
TCGA novel | 384 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1242771295 | 384 | A>T | No | gnomAD | |
rs2072687106 | 385 | D>A | No | Ensembl | |
rs143027827 | 386 | K>N | No |
ESP ExAC TOPMed gnomAD |
|
rs2072687019 | 388 | A>P | No | Ensembl | |
rs1280061096 | 392 | S>N | No |
TOPMed gnomAD |
|
rs1306996841 | 392 | S>R | No |
TOPMed gnomAD |
|
TCGA novel | 393 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs374282643 | 397 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
COSM5010122 | 398 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1313519797 | 398 | L>P | No |
TOPMed gnomAD |
|
rs1037249095 | 401 | S>C | No |
TOPMed gnomAD |
|
rs1037249095 | 401 | S>F | No |
TOPMed gnomAD |
|
rs2072686608 | 401 | S>P | No | TOPMed | |
COSM975266 | 401 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM975265 | 403 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072686484 | 404 | Y>C | No | Ensembl | |
COSM5851785 | 405 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM6080152 | 406 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs897886586 | 408 | K>N | No |
TOPMed gnomAD |
|
rs142060534 | 409 | V>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs142060534 | 409 | V>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2072686216 | 410 | G>D | No | gnomAD | |
COSM321867 rs371420534 |
410 | G>R | lung [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs371420534 | 410 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
COSM1709848 | 412 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs370061303 | 413 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
rs2072686185 | 413 | F>L | No | TOPMed | |
COSM180576 rs373683531 |
414 | V>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs373683531 | 414 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
rs111500941 | 415 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs767121220 | 417 | G>D | No |
ExAC gnomAD |
|
rs561574077 | 417 | G>S | No | 1000Genomes | |
COSM3513780 | 418 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs112872053 | 419 | T>S | No | Ensembl | |
rs2072685903 | 420 | V>M | No | gnomAD | |
rs1427954349 | 422 | Q>* | No | gnomAD | |
rs1233202115 | 424 | Y>* | No | gnomAD | |
TCGA novel rs2058893822 |
424 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs540099140 | 425 | N>I | No |
TOPMed gnomAD |
|
rs3744561 | 425 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs765935336 | 426 | A>T | No |
ExAC TOPMed gnomAD |
|
rs2072684430 | 426 | A>V | No | TOPMed | |
rs564783119 | 427 | V>M | No | 1000Genomes | |
rs1326081472 | 428 | G>D | No | gnomAD | |
rs1326081472 | 428 | G>V | No | gnomAD | |
rs2072684286 | 429 | A>S | No | TOPMed | |
rs2072684243 | 430 | L>Q | No | Ensembl | |
rs2072684136 | 431 | A>D | No | TOPMed | |
rs2072684040 | 432 | K>N | No | Ensembl | |
rs2072684086 | 432 | K>R | No | gnomAD | |
rs1388361513 | 433 | A>V | No | gnomAD | |
rs546488856 | 434 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM2925001 rs201920700 |
435 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC gnomAD NCI-TCGA Cosmic |
rs761502978 | 435 | Y>C | No | ExAC | |
rs765143035 | 435 | Y>H | No |
ExAC TOPMed gnomAD |
|
rs2142226175 | 436 | E>D | No | Ensembl | |
rs199943889 COSM3513779 |
436 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs775569708 | 438 | M>I | No |
ExAC gnomAD |
|
rs772119364 | 439 | F>L | No |
ExAC TOPMed gnomAD |
|
COSM4063829 | 440 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs542007728 | 441 | W>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs970629889 | 442 | M>I | No | gnomAD | |
rs1435344965 | 443 | V>A | No | gnomAD | |
rs1435344965 | 443 | V>G | No | gnomAD | |
rs771409272 | 445 | R>C | No |
ExAC TOPMed gnomAD |
|
rs771409272 | 445 | R>G | No |
ExAC TOPMed gnomAD |
|
rs749619476 | 445 | R>H | No |
ExAC TOPMed gnomAD |
|
rs771409272 | 445 | R>S | No |
ExAC TOPMed gnomAD |
|
rs2072683325 | 447 | N>D | No | TOPMed | |
rs778158885 | 448 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs754696431 | 449 | Q>K | No |
ExAC gnomAD |
|
rs1338813685 | 453 | K>E | No |
TOPMed gnomAD |
|
rs779747456 | 454 | Q>* | No |
ExAC TOPMed gnomAD |
|
rs779747456 | 454 | Q>K | No |
ExAC TOPMed gnomAD |
|
rs1597421949 | 455 | P>T | No | Ensembl | |
rs2072683034 | 456 | R>K | No | TOPMed | |
rs2072682986 | 457 | Q>R | No | Ensembl | |
COSM6145631 | 458 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072682891 | 459 | F>I | No | Ensembl | |
TCGA novel | 459 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1346665790 | 459 | F>S | No | gnomAD | |
TCGA novel | 460 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM75522 rs267604706 |
461 | G>R | ovary [Cosmic] | No |
cosmic curated gnomAD |
rs2072682669 | 461 | G>V | No | Ensembl | |
rs868373807 | 462 | V>I | No | Ensembl | |
rs139626801 | 464 | D>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs993252370 | 465 | I>V | No | gnomAD | |
rs199945629 | 466 | A>V | No |
TOPMed gnomAD |
|
rs1156743150 | 470 | I>N | No | TOPMed | |
TCGA novel | 473 | F>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
rs779387919 TCGA novel |
473 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
TOPMed gnomAD NCI-TCGA |
rs760459632 | 474 | N>T | No |
ExAC gnomAD |
|
rs1257148674 | 475 | S>I | No | gnomAD | |
rs1257148674 | 475 | S>N | No | gnomAD | |
TCGA novel | 476 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 477 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1208990625 | 477 | E>Q | No | gnomAD | |
rs2072676691 | 479 | L>Q | No | Ensembl | |
rs1284664592 | 480 | C>F | No |
TOPMed gnomAD |
|
TCGA novel | 481 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs939389767 | 481 | I>V | No |
TOPMed gnomAD |
|
rs1054623838 | 483 | F>C | No |
TOPMed gnomAD |
|
rs1348466283 COSM1380777 |
483 | F>I | large_intestine [Cosmic] | No |
cosmic curated gnomAD |
COSM75521 | 483 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072676392 | 484 | T>N | No | TOPMed | |
rs1421317078 | 484 | T>P | No | TOPMed | |
rs759763132 | 485 | N>S | No |
ExAC gnomAD |
|
rs759763132 | 485 | N>T | No |
ExAC gnomAD |
|
rs771016908 | 486 | E>K | No |
ExAC TOPMed gnomAD |
|
rs2142225369 | 487 | K>N | No | Ensembl | |
rs763406881 | 487 | K>Q | No |
ExAC TOPMed gnomAD |
|
rs1360713620 | 487 | K>R | No | gnomAD | |
rs904930005 | 488 | L>P | No |
TOPMed gnomAD |
|
rs2072676113 | 489 | Q>* | No |
TOPMed gnomAD |
|
COSM3795260 | 492 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM2924991 | 492 | F>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1395341095 COSM3513773 |
493 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
rs777072898 | 494 | H>R | No |
ExAC gnomAD |
|
rs972335164 | 496 | M>I | No | gnomAD | |
rs201075146 | 496 | M>L | No |
ESP ExAC TOPMed gnomAD |
|
rs1489404269 | 496 | M>T | No |
TOPMed gnomAD |
|
rs778336247 | 497 | F>Y | No |
ExAC gnomAD |
|
rs143641715 | 498 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 501 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1709847 | 502 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs752519020 | 504 | Y>* | No |
ExAC TOPMed gnomAD |
|
rs370952158 | 505 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
rs200100694 | 507 | E>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs766431705 | 508 | G>D | No |
ExAC gnomAD |
|
rs763072167 | 509 | I>V | No |
ExAC TOPMed gnomAD |
|
rs773365313 | 510 | E>* | No |
ExAC gnomAD |
|
rs773365313 | 510 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1178068419 | 511 | W>R | No | TOPMed | |
rs762372389 | 512 | E>A | No |
ExAC gnomAD |
|
rs765846094 | 512 | E>K | No |
ExAC gnomAD |
|
rs146102845 | 514 | I>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs769124122 | 516 | F>L | No |
ExAC TOPMed gnomAD |
|
COSM1290628 rs754358110 |
517 | G>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs754358110 | 517 | G>W | No |
ExAC TOPMed gnomAD |
|
rs558519475 | 518 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
rs2072674884 | 519 | D>G | No | TOPMed | |
rs1567704392 | 519 | D>H | No | Ensembl | |
COSM3513771 | 519 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1597421546 | 522 | A>S | No | TOPMed | |
rs770407305 | 523 | C>G | No |
ExAC TOPMed gnomAD |
|
rs770407305 | 523 | C>R | No |
ExAC TOPMed gnomAD |
|
rs374309931 COSM975261 |
525 | E>K | large_intestine endometrium [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs777223410 | 527 | I>V | No |
ExAC gnomAD |
|
rs756067819 | 528 | E>K | No |
ExAC TOPMed gnomAD |
|
COSM3889235 | 529 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM4063826 | 530 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072658004 | 530 | P>S | No | Ensembl | |
rs1346782012 | 531 | M>T | No |
TOPMed gnomAD |
|
rs2072657976 | 531 | M>V | No | gnomAD | |
rs35349985 | 534 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
COSM6080153 | 535 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs757408460 | 536 | I>V | No |
ExAC gnomAD |
|
rs2072657805 | 540 | E>G | No |
TOPMed gnomAD |
|
rs2072657835 | 540 | E>K | No | TOPMed | |
rs2072657835 | 540 | E>Q | No | TOPMed | |
rs753125868 | 541 | C>* | No |
ExAC gnomAD |
|
rs966147606 | 541 | C>F | No | TOPMed | |
rs549110332 | 541 | C>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs549110332 | 541 | C>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs966147606 | 541 | C>Y | No | TOPMed | |
rs2072657586 | 542 | M>I | No | Ensembl | |
rs767749646 | 542 | M>T | No |
ExAC TOPMed gnomAD |
|
rs2072657520 | 543 | F>L | No | gnomAD | |
rs772842261 | 544 | P>S | No |
ExAC TOPMed gnomAD |
|
rs1357441814 | 545 | K>R | No |
TOPMed gnomAD |
|
rs1357441814 | 545 | K>T | No |
TOPMed gnomAD |
|
COSM975260 | 548 | D>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs749617157 | 548 | D>E | No | TOPMed | |
rs1414374751 | 548 | D>G | No | gnomAD | |
rs761322240 | 549 | T>P | No |
ExAC gnomAD |
|
rs775934597 | 550 | S>F | No |
ExAC gnomAD |
|
TCGA novel | 551 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1031615827 | 553 | N>K | No | TOPMed | |
rs2072657167 | 554 | K>R | No |
TOPMed gnomAD |
|
TCGA novel | 555 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1456311398 | 557 | E>G | No |
TOPMed gnomAD |
|
rs2072657120 | 557 | E>Q | No | Ensembl | |
rs768673169 | 559 | H>R | No |
ExAC TOPMed gnomAD |
|
rs2072657047 | 559 | H>Y | No | TOPMed | |
COSM6145632 | 560 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1410903093 | 561 | G>E | No |
TOPMed gnomAD |
|
TCGA novel | 561 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM4404708 rs1165006026 |
563 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs1597420798 | 563 | S>P | No | Ensembl | |
rs2072656747 | 564 | N>S | No | Ensembl | |
rs376013289 | 565 | N>D | No |
ESP ExAC gnomAD |
|
rs1748360281 | 565 | N>K | No | Ensembl | |
rs746159729 | 566 | F>L | No |
ExAC TOPMed gnomAD |
|
rs1597420792 | 566 | F>S | No | Ensembl | |
rs2072656592 | 567 | Q>* | No | gnomAD | |
rs779265310 | 568 | K>E | No |
ExAC gnomAD |
|
rs1207276652 | 569 | P>A | No | gnomAD | |
COSM975259 | 569 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1486390936 | 570 | K>Q | No | gnomAD | |
rs541313954 | 572 | A>S | No |
1000Genomes ExAC gnomAD |
|
COSM1216220 rs541313954 |
572 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
rs1294006977 | 573 | K>N | No | gnomAD | |
rs964624974 | 574 | G>D | No |
TOPMed gnomAD |
|
rs1232704804 | 576 | P>A | No | gnomAD | |
rs753112873 | 577 | E>D | No |
ExAC gnomAD |
|
rs759876947 | 579 | H>Y | No |
ExAC TOPMed gnomAD |
|
rs1021403958 | 580 | F>L | No | Ensembl | |
rs764871122 | 580 | F>S | No |
ExAC TOPMed gnomAD |
|
rs764871122 | 580 | F>Y | No |
ExAC TOPMed gnomAD |
|
rs2072655959 | 581 | S>L | No |
TOPMed gnomAD |
|
rs763492896 | 583 | V>L | No |
ExAC TOPMed |
|
rs763492896 | 583 | V>M | No |
ExAC TOPMed |
|
rs1597420717 | 585 | Y>* | No | gnomAD | |
COSM705138 | 585 | Y>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs775290532 | 586 | A>D | No |
ExAC TOPMed gnomAD |
|
rs775290532 | 586 | A>V | No |
ExAC TOPMed gnomAD |
|
rs745672744 | 587 | G>S | No |
ExAC TOPMed gnomAD |
|
rs2072655441 | 589 | V>A | No | gnomAD | |
rs368576472 | 589 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
rs908775303 | 591 | Y>C | No |
TOPMed gnomAD |
|
rs756139177 | 593 | I>T | No |
ExAC gnomAD |
|
rs201166283 | 593 | I>V | No | 1000Genomes | |
rs1310258324 | 594 | A>G | No | TOPMed | |
VAR_030198 rs12949680 |
594 | A>T | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1310258324 | 594 | A>V | No | TOPMed | |
rs571679462 | 595 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs138979215 | 595 | G>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs571679462 | 595 | G>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs948272273 | 596 | W>S | No | Ensembl | |
rs1341691715 | 597 | L>P | No |
TOPMed gnomAD |
|
rs2072654851 | 598 | D>E | No | TOPMed | |
rs2072654817 | 599 | K>T | No | Ensembl | |
rs753402914 | 600 | N>H | No |
ExAC gnomAD |
|
TCGA novel | 600 | N>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1371659782 | 601 | K>M | No | gnomAD | |
TCGA novel | 601 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs763727367 | 602 | D>E | No |
ExAC TOPMed gnomAD |
|
rs1245778373 | 602 | D>H | No |
TOPMed gnomAD |
|
rs2072654637 | 602 | D>V | No | TOPMed | |
rs1459477575 | 603 | P>A | No |
TOPMed gnomAD |
|
rs757257105 | 603 | P>L | No |
TOPMed gnomAD |
|
rs1459477575 | 603 | P>S | No |
TOPMed gnomAD |
|
rs987528605 | 606 | E>D | No |
TOPMed gnomAD |
|
COSM4063825 | 608 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs147137444 | 609 | V>M | No |
ESP ExAC TOPMed gnomAD |
|
rs143452653 | 611 | L>R | No |
ESP ExAC gnomAD |
|
rs557704267 | 612 | Y>H | No |
ExAC TOPMed gnomAD |
|
rs1289237793 | 613 | Q>H | No | gnomAD | |
rs1031361716 | 613 | Q>R | No |
TOPMed gnomAD |
|
rs749587912 | 615 | S>T | No |
ExAC gnomAD |
|
COSM975258 | 615 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1858268064 | 616 | A>E | No | TOPMed | |
rs773288385 | 616 | A>S | No | ExAC | |
rs773288385 | 616 | A>T | No | ExAC | |
rs1272684999 | 617 | M>V | No | gnomAD | |
rs770000733 | 619 | T>A | No |
ExAC TOPMed gnomAD |
|
rs1348321846 | 619 | T>I | No | gnomAD | |
rs748181006 | 620 | L>P | No |
ExAC TOPMed gnomAD |
|
rs1438595900 | 621 | A>T | No | gnomAD | |
rs1337409345 | 622 | F>L | No | gnomAD | |
rs2072653692 | 622 | F>S | No | gnomAD | |
rs371513893 | 623 | L>I | No |
ESP TOPMed gnomAD |
|
rs1328982946 | 625 | S>P | No |
TOPMed gnomAD |
|
rs781207137 COSM335049 |
627 | A>E | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
TCGA novel | 627 | A>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1597420573 | 627 | A>S | No | Ensembl | |
rs1391212979 | 629 | T>I | No |
TOPMed gnomAD |
|
rs1393891064 | 631 | E>G | No | gnomAD | |
rs1393891064 | 631 | E>V | No | gnomAD | |
rs2072640725 | 633 | E>D | No | Ensembl | |
rs755495790 | 633 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs202100486 | 634 | G>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs772991962 | 636 | G>S | No |
ExAC TOPMed gnomAD |
|
rs1190094171 | 638 | K>T | No | gnomAD | |
rs769938719 | 640 | G>S | No |
ExAC gnomAD |
|
TCGA novel | 640 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072640475 | 641 | G>S | No |
TOPMed gnomAD |
|
rs201777804 | 642 | K>* | No |
ESP ExAC TOPMed gnomAD |
|
rs776742656 | 642 | K>R | No |
ExAC TOPMed gnomAD |
|
rs2072640400 | 643 | K>E | No | TOPMed | |
TCGA novel | 643 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1343851208 | 643 | K>R | No | TOPMed | |
rs768693131 | 644 | K>E | No |
ExAC gnomAD |
|
COSM705140 | 644 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel rs2072640252 |
645 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
COSM3513765 | 645 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072640252 | 645 | G>R | No | gnomAD | |
rs370411097 | 647 | S>C | No |
ESP ExAC TOPMed gnomAD |
|
rs370411097 | 647 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
rs772577784 | 648 | F>C | No |
ExAC gnomAD |
|
rs373133379 | 648 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 653 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1027055491 | 653 | A>V | No |
TOPMed gnomAD |
|
rs1282052879 | 656 | R>G | No | gnomAD | |
rs571468610 | 656 | R>S | No |
1000Genomes ExAC gnomAD |
|
rs779565504 COSM975257 |
657 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs2072633856 | 659 | L>F | No | Ensembl | |
rs200538149 | 662 | L>P | No |
TOPMed gnomAD |
|
rs2072633818 | 662 | L>V | No | gnomAD | |
rs1447424221 | 663 | M>V | No | gnomAD | |
rs2072633689 | 665 | N>S | No | TOPMed | |
TCGA novel | 665 | N>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs539862579 | 666 | L>* | No | 1000Genomes | |
rs569210501 COSM3513764 |
667 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1244500695 | 668 | S>G | No | gnomAD | |
rs2072633505 | 668 | S>N | No | Ensembl | |
rs753572719 | 669 | T>I | No |
ExAC TOPMed gnomAD |
|
rs753572719 | 669 | T>S | No |
ExAC TOPMed gnomAD |
|
rs1055443561 | 670 | H>R | No | TOPMed | |
rs2072633392 | 670 | H>Y | No | TOPMed | |
rs2072633332 | 671 | P>S | No | TOPMed | |
rs2072633332 | 671 | P>T | No | TOPMed | |
rs764308948 | 672 | H>D | No |
ExAC TOPMed gnomAD |
|
rs764308948 | 672 | H>N | No |
ExAC TOPMed gnomAD |
|
rs1228204503 | 672 | H>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs764308948 | 672 | H>Y | No |
ExAC TOPMed gnomAD |
|
rs760850020 | 673 | F>L | No |
ExAC gnomAD |
|
rs140213075 | 674 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
COSM283027 rs760025701 |
675 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs767615835 | 675 | R>W | No |
ExAC TOPMed gnomAD |
|
COSM1286430 | 676 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs774905501 | 676 | C>R | No |
ExAC gnomAD |
|
rs1331627977 | 678 | I>N | No | TOPMed | |
rs2072632948 | 679 | P>L | No | Ensembl | |
rs749671555 | 680 | N>S | No |
ExAC TOPMed gnomAD |
|
rs1427626557 | 681 | E>* | No | gnomAD | |
TCGA novel | 682 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1396639823 | 682 | T>P | No |
TOPMed gnomAD |
|
rs1173981598 | 684 | T>A | No | gnomAD | |
rs773671830 | 684 | T>I | No |
ExAC TOPMed gnomAD |
|
COSM3513763 | 685 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs775197647 | 686 | G>D | No |
ExAC TOPMed gnomAD |
|
rs1567702646 | 687 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
rs2072631633 | 687 | A>V | No | Ensembl | |
COSM4990925 | 688 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs903237139 | 688 | M>V | No |
TOPMed gnomAD |
|
TCGA novel | 689 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1257710906 | 689 | E>K | No | gnomAD | |
rs771566342 | 690 | H>L | No |
ExAC TOPMed gnomAD |
|
rs771566342 | 690 | H>R | No |
ExAC TOPMed gnomAD |
|
rs745388693 | 691 | E>K | No |
ExAC gnomAD |
|
rs2072631455 | 692 | L>F | No | Ensembl | |
rs2072631429 | 694 | L>R | No | Ensembl | |
COSM3513762 | 696 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1300723201 | 696 | Q>H | No |
TOPMed gnomAD |
|
rs1218536994 | 696 | Q>R | No | gnomAD | |
rs2072631286 | 698 | R>K | No | TOPMed | |
rs778250398 | 699 | C>G | No |
ExAC TOPMed gnomAD |
|
rs778250398 | 699 | C>S | No |
ExAC TOPMed gnomAD |
|
rs1597419718 | 699 | C>Y | No | Ensembl | |
rs2072631181 | 700 | N>D | No | Ensembl | |
rs148235877 | 700 | N>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs372354468 | 701 | G>D | No |
ESP ExAC TOPMed gnomAD |
|
rs143134132 COSM180574 |
701 | G>S | large_intestine [Cosmic] | No |
cosmic curated ESP TOPMed gnomAD |
rs372354468 | 701 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1228619815 | 702 | V>G | No | TOPMed | |
rs1399751348 | 703 | L>P | No | gnomAD | |
rs1399751348 | 703 | L>R | No | gnomAD | |
COSM975256 rs777588594 |
707 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs201207535 | 707 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs201207535 COSM3402584 |
707 | R>L | central_nervous_system [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs781477349 | 710 | R>G | No |
ExAC gnomAD |
|
rs1314778324 | 711 | K>R | No | TOPMed | |
rs1014306463 | 712 | G>A | No | Ensembl | |
rs2072630668 | 713 | F>V | No | Ensembl | |
TCGA novel | 715 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072630640 | 715 | S>R | No | Ensembl | |
rs755111846 | 715 | S>R | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 716 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs751681201 | 717 | I>N | No |
ExAC gnomAD |
|
rs763593260 COSM139049 |
718 | L>F | skin [Cosmic] | No |
cosmic curated ExAC TOPMed |
rs763593260 | 718 | L>V | No |
ExAC TOPMed |
|
rs149111262 | 719 | Y>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM975255 | 719 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs750960798 | 719 | Y>H | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 719 | Y>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs532823907 | 720 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 721 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1465750992 | 722 | F>Y | No | gnomAD | |
rs1267988018 | 723 | K>R | No |
TOPMed gnomAD |
|
rs1267988018 | 723 | K>T | No |
TOPMed gnomAD |
|
rs1206965809 | 724 | Q>* | No | gnomAD | |
rs1206965809 | 724 | Q>E | No | gnomAD | |
TCGA novel | 724 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs180690922 | 724 | Q>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs180690922 | 724 | Q>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs759064733 | 725 | R>K | No |
ExAC gnomAD |
|
rs2142220716 | 725 | R>S | No | Ensembl | |
rs373674292 | 726 | Y>* | No |
ESP ExAC TOPMed gnomAD |
|
rs934095950 | 726 | Y>H | No |
TOPMed gnomAD |
|
rs1404852471 | 727 | K>R | No | TOPMed | |
rs1455991486 | 728 | V>F | No | gnomAD | |
rs370294449 | 731 | A>E | No |
ESP ExAC TOPMed gnomAD |
|
COSM975254 rs370294449 |
731 | A>V | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 732 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs768330400 | 733 | A>D | No |
ExAC gnomAD |
|
rs768330400 | 733 | A>G | No |
ExAC gnomAD |
|
rs776529132 | 733 | A>P | No |
ExAC TOPMed gnomAD |
|
rs747312194 | 734 | I>N | No |
ExAC TOPMed gnomAD |
|
rs747312194 | 734 | I>T | No |
ExAC TOPMed gnomAD |
|
rs267604705 | 735 | P>L | No |
ExAC TOPMed gnomAD |
|
rs267604705 | 735 | P>R | No |
ExAC TOPMed gnomAD |
|
rs77530914 RCV000947768 |
735 | P>T | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2142220658 | 736 | E>Q | No | Ensembl | |
rs2072626126 | 737 | G>S | No |
TOPMed gnomAD |
|
rs1236140004 | 738 | Q>L | No | gnomAD | |
rs1345651258 | 740 | I>L | No | gnomAD | |
rs551102643 | 740 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs113676954 | 741 | D>G | No | Ensembl | |
TCGA novel | 741 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs372722710 | 743 | K>* | No |
ESP ExAC gnomAD |
|
rs756425015 | 745 | A>P | No |
ExAC TOPMed gnomAD |
|
rs2072625755 | 746 | S>Y | No | TOPMed | |
rs1214807791 | 747 | E>K | No | TOPMed | |
rs752989391 | 748 | K>R | No |
ExAC gnomAD |
|
rs766048414 | 749 | L>P | No |
ExAC gnomAD |
|
rs888337418 | 751 | G>E | No | Ensembl | |
rs888337418 | 751 | G>V | No | Ensembl | |
rs1025261990 | 752 | S>A | No |
TOPMed gnomAD |
|
TCGA novel | 752 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs772756428 | 753 | I>N | No |
ExAC TOPMed gnomAD |
|
rs772756428 | 753 | I>T | No |
ExAC TOPMed gnomAD |
|
rs533043596 | 753 | I>V | No |
1000Genomes ExAC gnomAD |
|
COSM3513760 | 754 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs764621209 | 756 | D>G | No |
ExAC gnomAD |
|
rs2142220568 | 757 | H>N | No | Ensembl | |
rs1161016006 | 757 | H>Q | No |
TOPMed gnomAD |
|
rs1472391532 | 758 | T>I | No |
TOPMed gnomAD |
|
rs1472391532 | 758 | T>N | No |
TOPMed gnomAD |
|
rs761874607 | 760 | Y>* | No |
ExAC TOPMed gnomAD |
|
rs1442781815 | 761 | K>E | No | gnomAD | |
rs1277876476 | 761 | K>I | No | gnomAD | |
rs2072625086 | 763 | G>C | No | TOPMed | |
rs2072625086 | 763 | G>S | No | TOPMed | |
rs1047340364 | 766 | K>E | No | Ensembl | |
TCGA novel | 767 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072623785 | 767 | V>I | No | TOPMed | |
COSM3988758 rs2072623753 |
768 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
TCGA novel | 768 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3513759 rs1368046636 |
771 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs2072623637 | 775 | G>E | No | TOPMed | |
COSM3513758 | 775 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs761241412 | 777 | L>P | No |
ExAC TOPMed gnomAD |
|
rs761241412 | 777 | L>R | No |
ExAC TOPMed gnomAD |
|
COSM3818787 | 777 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs776140827 COSM3889233 |
779 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs760640626 | 781 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs749993136 | 781 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs1158318566 | 784 | K>Q | No |
TOPMed gnomAD |
|
rs759906665 | 785 | L>P | No |
ExAC gnomAD |
|
rs774426815 | 786 | A>V | No |
ExAC gnomAD |
|
rs1597419338 | 787 | Q>E | No | Ensembl | |
rs1597419329 | 788 | L>I | No | Ensembl | |
rs113381811 | 788 | L>P | No | Ensembl | |
rs1248638836 | 789 | I>N | No | gnomAD | |
rs1248638836 | 789 | I>T | No | gnomAD | |
rs2072622980 | 790 | T>A | No | gnomAD | |
rs143572602 | 790 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM435993 rs143572602 |
790 | T>M | lung breast [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs143572602 | 790 | T>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs146550695 COSM1479213 |
791 | R>C | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM975253 rs144778193 |
791 | R>H | Variant assessed as Somatic; MODERATE impact. central_nervous_system endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs144778193 | 791 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs146550695 | 791 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
rs781602489 | 792 | T>A | No |
ExAC gnomAD |
|
rs751862667 | 793 | Q>K | No |
ExAC gnomAD |
|
rs2072622628 | 793 | Q>L | No | TOPMed | |
rs1291084222 | 795 | I>M | No |
TOPMed gnomAD |
|
rs778436363 | 795 | I>T | No |
ExAC TOPMed gnomAD |
|
rs1940346802 | 795 | I>V | No | gnomAD | |
rs373216084 | 796 | C>* | No |
ESP ExAC TOPMed gnomAD |
|
rs1384811893 | 796 | C>R | No |
TOPMed gnomAD |
|
rs1042397069 | 796 | C>Y | No |
TOPMed gnomAD |
|
rs1228338301 | 798 | G>R | No | gnomAD | |
rs1363588908 | 799 | F>L | No | gnomAD | |
rs760738426 | 801 | M>I | No | ExAC | |
rs763639457 | 801 | M>R | No |
ExAC gnomAD |
|
rs763639457 | 801 | M>T | No |
ExAC gnomAD |
|
COSM137090 rs752679264 |
802 | R>K | skin [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs1431439547 | 804 | E>D | No | gnomAD | |
rs767482558 | 804 | E>K | No |
ExAC gnomAD |
|
rs759421684 | 805 | F>L | No |
ExAC gnomAD |
|
rs1685072306 | 806 | R>T | No | TOPMed | |
TCGA novel | 807 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs774152329 | 807 | K>R | No |
ExAC gnomAD |
|
rs771077344 | 808 | M>I | No |
ExAC TOPMed gnomAD |
|
rs1396750055 | 809 | M>K | No | gnomAD | |
TCGA novel | 809 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1396750055 | 809 | M>T | No | gnomAD | |
rs1191333780 | 811 | R>T | No | gnomAD | |
rs915263067 COSM1722295 |
812 | R>K | NS [Cosmic] | No |
cosmic curated TOPMed gnomAD |
rs2072619910 | 813 | E>* | No | gnomAD | |
rs1597419158 COSM3421275 |
813 | E>D | large_intestine Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated Ensembl NCI-TCGA Cosmic |
rs1380445354 | 813 | E>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072619810 | 814 | S>P | No | TOPMed | |
rs2142219941 | 814 | S>Y | No | Ensembl | |
rs368973679 | 815 | I>N | No |
ESP ExAC gnomAD |
|
rs368973679 | 815 | I>S | No |
ESP ExAC gnomAD |
|
rs2072619782 | 815 | I>V | No | Ensembl | |
rs936387815 | 816 | F>Y | No | Ensembl | |
TCGA novel | 817 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs767570586 | 818 | I>L | No |
ExAC gnomAD |
|
rs767570586 | 818 | I>V | No |
ExAC gnomAD |
|
rs751355983 | 820 | Y>* | No |
ExAC TOPMed gnomAD |
|
rs1264338303 | 820 | Y>N | No |
TOPMed gnomAD |
|
rs112990048 | 821 | N>D | No | Ensembl | |
COSM398480 rs1211411768 |
821 | N>S | lung [Cosmic] | No |
cosmic curated gnomAD |
COSM4063823 | 821 | N>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1312084421 | 822 | I>N | No |
TOPMed gnomAD |
|
rs763148844 COSM78129 |
823 | R>C | ovary Variant assessed as Somatic; MODERATE impact. large_intestine skin [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
COSM1380775 rs557134943 |
823 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes NCI-TCGA TOPMed |
rs1461506994 | 824 | A>T | No | TOPMed | |
rs993892646 COSM1172378 |
824 | A>V | oesophagus [Cosmic] | No |
cosmic curated TOPMed |
rs761885990 | 825 | F>L | No |
ExAC TOPMed gnomAD |
|
rs1381047099 | 826 | M>T | No | gnomAD | |
rs1443313950 | 826 | M>V | No | TOPMed | |
COSM6080156 | 828 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs375508154 | 829 | K>R | No |
ESP ExAC TOPMed gnomAD |
|
rs1357287026 | 830 | H>Q | No |
TOPMed gnomAD |
|
rs2072618959 | 830 | H>R | No | Ensembl | |
rs2072618888 | 832 | P>T | No |
TOPMed gnomAD |
|
rs2072618837 COSM1709845 |
833 | W>* | skin Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA] | No |
cosmic curated Ensembl NCI-TCGA Cosmic |
TCGA novel | 833 | W>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3513755 rs1408526493 |
834 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs1166255126 | 834 | M>K | No |
TOPMed gnomAD |
|
rs1567701999 | 836 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
rs1597419102 | 837 | Y>C | No | TOPMed | |
rs1597419102 | 837 | Y>F | No | TOPMed | |
rs1470446860 | 837 | Y>N | No | TOPMed | |
rs374627618 | 839 | K>E | No |
ESP ExAC TOPMed gnomAD |
|
rs374627618 | 839 | K>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs2072618497 | 840 | I>N | No | gnomAD | |
COSM3513754 | 842 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072618429 | 842 | P>S | No | TOPMed | |
COSM705142 | 842 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs748953866 | 844 | L>P | No |
ExAC TOPMed gnomAD |
|
rs2072618228 | 845 | K>E | No | TOPMed | |
rs1597419073 | 849 | T>A | No | Ensembl | |
TCGA novel | 849 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1007187936 | 849 | T>R | No | TOPMed | |
rs1597419073 | 849 | T>S | No | Ensembl | |
rs535227810 | 850 | E>Q | No |
TOPMed gnomAD |
|
rs755764532 | 852 | E>K | No |
ExAC TOPMed gnomAD |
|
rs755764532 | 852 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs1329900263 | 853 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs747680205 | 854 | A>P | No |
ExAC gnomAD |
|
COSM3513751 | 854 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072617691 | 855 | N>H | No | Ensembl | |
COSM705143 | 855 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1226825046 | 856 | M>T | No |
TOPMed gnomAD |
|
rs780822852 | 857 | K>E | No |
ExAC TOPMed gnomAD |
|
rs780822852 | 857 | K>Q | No |
ExAC TOPMed gnomAD |
|
rs2072617537 | 857 | K>R | No | TOPMed | |
rs1395177031 | 858 | E>A | No |
TOPMed gnomAD |
|
rs1395177031 | 858 | E>G | No |
TOPMed gnomAD |
|
COSM1709844 rs1313161665 |
858 | E>K | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs751506876 | 859 | E>G | No |
ExAC gnomAD |
|
rs754908749 | 859 | E>K | No |
ExAC gnomAD |
|
rs1207278245 | 860 | F>L | No |
TOPMed gnomAD |
|
rs1262987467 | 860 | F>Y | No |
TOPMed gnomAD |
|
rs1435235029 | 861 | E>A | No | gnomAD | |
rs1446966521 | 861 | E>D | No | TOPMed | |
rs1435235029 | 861 | E>V | No | gnomAD | |
COSM1709843 rs766143426 |
863 | T>I | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 864 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072617182 | 864 | K>R | No |
TOPMed gnomAD |
|
COSM1709842 rs998056901 |
865 | E>K | skin [Cosmic] | No |
cosmic curated TOPMed gnomAD |
rs758223626 | 867 | L>P | No | ExAC | |
rs111451155 | 870 | T>A | No |
ExAC gnomAD |
|
rs1324983090 | 870 | T>K | No | gnomAD | |
rs111451155 | 870 | T>P | No |
ExAC gnomAD |
|
rs111451155 | 870 | T>S | No |
ExAC gnomAD |
|
rs1298272007 | 871 | E>K | No | gnomAD | |
rs371955336 | 872 | A>E | No |
ExAC TOPMed gnomAD |
|
rs1166003339 | 872 | A>S | No | gnomAD | |
rs1166003339 | 872 | A>T | No | gnomAD | |
COSM4063822 | 873 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1480877429 | 874 | R>K | No |
TOPMed gnomAD |
|
rs1191035618 | 875 | K>N | No | gnomAD | |
TCGA novel | 876 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs757251552 | 877 | L>P | No | Ensembl | |
rs776740713 | 877 | L>V | No |
ExAC gnomAD |
|
rs1366293575 | 878 | E>G | No | gnomAD | |
rs2142219593 | 880 | K>E | No | 1000Genomes | |
rs2072616463 | 881 | M>T | No | gnomAD | |
rs3744558 | 883 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
VAR_022110 rs3744558 |
883 | T>M | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs3744558 | 883 | T>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1474554962 | 885 | M>T | No | gnomAD | |
TCGA novel | 886 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3818786 | 887 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1371127550 | 887 | E>K | No | gnomAD | |
rs952771983 | 892 | Q>E | No | Ensembl | |
rs746252675 | 893 | L>P | No |
ExAC gnomAD |
|
rs1364288576 | 895 | V>L | No | gnomAD | |
TCGA novel | 897 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1387998336 | 897 | A>P | No |
TOPMed gnomAD |
|
rs1182721815 | 898 | E>* | No | gnomAD | |
COSM3513750 | 898 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1223013557 | 899 | A>E | No |
TOPMed gnomAD |
|
rs1482589006 | 900 | D>G | No | gnomAD | |
rs2072607326 | 901 | A>T | No | gnomAD | |
rs1283738337 | 901 | A>V | No | TOPMed | |
rs746559512 | 902 | L>F | No |
ExAC TOPMed gnomAD |
|
rs138202203 | 902 | L>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1254910592 | 906 | E>A | No | gnomAD | |
COSM2924946 rs966567437 |
906 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs779381442 | 907 | E>G | No |
ExAC gnomAD |
|
rs2072607089 | 908 | R>G | No | Ensembl | |
rs1352008261 | 909 | C>S | No | gnomAD | |
rs2072607015 | 910 | D>G | No | gnomAD | |
TCGA novel | 910 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1410869047 | 913 | I>M | No | gnomAD | |
rs772096174 | 917 | I>N | No |
ExAC gnomAD |
|
TCGA novel | 918 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1020750131 | 918 | Q>K | No | Ensembl | |
rs745775188 | 920 | E>K | No |
ExAC gnomAD |
|
COSM5686975 | 921 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1403447124 | 921 | A>T | No | gnomAD | |
rs778748600 | 921 | A>V | No |
ExAC gnomAD |
|
rs1414519553 | 922 | K>E | No | gnomAD | |
TCGA novel | 925 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs778063184 | 926 | V>G | No |
ExAC TOPMed gnomAD |
|
COSM75520 | 927 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 928 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM2924944 | 928 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072606442 | 929 | R>K | No | TOPMed | |
rs2072606413 | 929 | R>S | No | TOPMed | |
rs2072606371 | 930 | A>D | No | TOPMed | |
rs2072606371 | 930 | A>G | No | TOPMed | |
rs756253586 | 931 | E>K | No |
ExAC TOPMed gnomAD |
|
rs756253586 | 931 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs756659582 | 932 | D>E | No |
ExAC TOPMed gnomAD |
|
rs767459401 | 933 | E>D | No |
ExAC TOPMed gnomAD |
|
rs760184385 | 934 | E>A | No |
ExAC gnomAD |
|
rs752096405 | 934 | E>D | No |
ExAC TOPMed gnomAD |
|
COSM3513748 | 934 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072606218 | 934 | E>Q | No | gnomAD | |
rs1330564825 | 935 | E>G | No | gnomAD | |
TCGA novel | 936 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1731021 | 938 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1268421786 | 939 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs766932691 | 941 | T>I | No |
ExAC gnomAD |
|
TCGA novel | 942 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072605947 | 943 | K>E | No | TOPMed | |
rs2072605919 | 943 | K>T | No | Ensembl | |
rs1334050691 | 947 | L>P | No | gnomAD | |
rs1334050691 | 947 | L>Q | No | gnomAD | |
rs773406905 | 948 | E>K | No |
ExAC gnomAD |
|
rs775107620 | 949 | D>E | No |
ExAC gnomAD |
|
rs760223719 | 949 | D>N | No |
ExAC TOPMed gnomAD |
|
rs539644363 | 951 | C>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs771480181 | 951 | C>G | No |
ExAC TOPMed gnomAD |
|
rs539644363 | 951 | C>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs771480181 | 951 | C>S | No |
ExAC TOPMed gnomAD |
|
rs539644363 | 951 | C>Y | No |
1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 953 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1472999023 | 954 | L>R | No | gnomAD | |
rs2072605394 | 955 | K>E | No | Ensembl | |
rs1331059063 | 955 | K>R | No | TOPMed | |
rs777387347 | 957 | D>N | No |
ExAC gnomAD |
|
rs1355361899 | 958 | I>M | No | TOPMed | |
rs201589622 | 958 | I>T | No |
1000Genomes ExAC gnomAD |
|
rs752855160 | 959 | D>N | No |
ExAC TOPMed gnomAD |
|
rs1033741063 | 960 | D>V | No |
TOPMed gnomAD |
|
rs2072604991 | 961 | L>F | No | TOPMed | |
rs1230427429 | 962 | E>Q | No | gnomAD | |
COSM4849424 rs751620819 |
963 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs144118927 | 963 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
COSM6145634 | 964 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1462271152 | 966 | A>T | No |
TOPMed gnomAD |
|
rs535532484 | 968 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs374316163 | 968 | V>I | No |
ESP TOPMed gnomAD |
|
rs374316163 | 968 | V>L | No |
ESP TOPMed gnomAD |
|
rs750848299 | 969 | E>K | No |
ExAC TOPMed gnomAD |
|
rs765488560 | 971 | E>D | No |
ExAC TOPMed gnomAD |
|
rs1037104837 | 971 | E>G | No | Ensembl | |
rs1436893624 | 972 | K>N | No |
TOPMed gnomAD |
|
rs2072604053 | 973 | H>L | No |
TOPMed gnomAD |
|
rs145607822 | 973 | H>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1050159971 | 974 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1050159971 | 974 | A>G | No |
TOPMed gnomAD |
|
rs1389773372 | 974 | A>T | No | gnomAD | |
rs942173104 | 975 | T>I | No |
TOPMed gnomAD |
|
rs942173104 | 975 | T>K | No |
TOPMed gnomAD |
|
rs2072603626 | 976 | E>A | No | Ensembl | |
rs925231591 | 976 | E>D | No |
TOPMed gnomAD |
|
rs1420458817 | 976 | E>Q | No |
TOPMed gnomAD |
|
rs759053415 | 978 | K>N | No |
ExAC TOPMed gnomAD |
|
COSM1722294 | 979 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs143118103 | 979 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1128831 | 980 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1276030439 | 980 | K>R | No | gnomAD | |
rs1204464516 | 981 | N>T | No | gnomAD | |
COSM4704623 | 981 | N>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs763002531 | 983 | T>A | No |
ExAC gnomAD |
|
rs2072599288 | 984 | E>* | No | Ensembl | |
rs769703443 | 985 | E>D | No |
ExAC TOPMed gnomAD |
|
rs747924988 | 986 | M>K | No |
ExAC TOPMed gnomAD |
|
rs747924988 | 986 | M>T | No |
ExAC TOPMed gnomAD |
|
rs2072599136 | 987 | A>T | No | Ensembl | |
rs2072599090 | 988 | G>R | No |
TOPMed gnomAD |
|
rs2072599090 | 988 | G>S | No |
TOPMed gnomAD |
|
rs1488920472 | 988 | G>V | No | TOPMed | |
rs769048292 | 990 | D>E | No |
ExAC gnomAD |
|
rs868809937 | 990 | D>N | No | Ensembl | |
COSM4901030 rs866670641 |
991 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
rs866670641 | 991 | E>Q | No | TOPMed | |
rs2072598761 | 993 | I>N | No | Ensembl | |
TCGA novel | 993 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072598697 | 994 | A>T | No | Ensembl | |
rs1297356182 | 994 | A>V | No | gnomAD | |
rs1044059039 | 997 | T>N | No | gnomAD | |
rs747202653 | 998 | K>R | No |
ExAC TOPMed gnomAD |
|
rs1468834018 COSM3513745 |
999 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs1426812861 | 1000 | K>R | No |
TOPMed gnomAD |
|
COSM1216222 rs1426812861 |
1000 | K>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs1472684397 | 1001 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
TCGA novel rs138556802 |
1001 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC TOPMed gnomAD NCI-TCGA |
rs2072598297 | 1001 | K>R | No | TOPMed | |
rs745904959 | 1002 | A>S | No |
ExAC TOPMed gnomAD |
|
COSM4913321 | 1003 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1479951004 | 1003 | L>P | No | gnomAD | |
rs757745172 | 1005 | E>G | No | ExAC | |
rs1322886330 | 1006 | A>G | No | gnomAD | |
rs754180639 | 1006 | A>T | No |
ExAC gnomAD |
|
rs1322886330 | 1006 | A>V | No | gnomAD | |
COSM559485 rs1261283879 COSM6080157 |
1007 | H>Q | Variant assessed as Somatic; MODERATE impact. lung [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
rs1230496999 | 1010 | T>I | No | gnomAD | |
rs1330015447 | 1013 | D>E | No | gnomAD | |
rs1306043000 | 1015 | Q>* | No |
TOPMed gnomAD |
|
rs1306043000 | 1015 | Q>K | No |
TOPMed gnomAD |
|
rs575434453 | 1016 | M>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs545765854 | 1016 | M>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM705146 rs545765854 |
1016 | M>T | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
COSM705145 rs558061741 |
1016 | M>V | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes NCI-TCGA TOPMed |
COSM705147 | 1017 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1403299537 | 1018 | E>V | No |
TOPMed gnomAD |
|
rs1362801931 | 1019 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs765954445 | 1019 | D>N | No |
ExAC gnomAD |
|
TCGA novel | 1019 | D>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1398216591 | 1023 | T>N | No |
TOPMed gnomAD |
|
TCGA novel | 1024 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs150138598 | 1024 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
rs762371662 | 1025 | T>S | No |
ExAC gnomAD |
|
rs2072597295 | 1025 | T>S | No | TOPMed | |
COSM1324192 | 1026 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs200252070 | 1027 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs140849469 | 1031 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
rs761786649 | 1032 | E>* | No |
ExAC TOPMed gnomAD |
|
COSM3513743 | 1032 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs761786649 | 1032 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs1461227619 | 1033 | Q>* | No | gnomAD | |
rs1461227619 | 1033 | Q>E | No | gnomAD | |
rs1461227619 | 1033 | Q>K | No | gnomAD | |
rs2072597127 | 1035 | V>A | No |
TOPMed gnomAD |
|
rs769042073 | 1036 | D>N | No |
ExAC TOPMed gnomAD |
|
rs2072596959 | 1037 | D>A | No | gnomAD | |
rs761037249 | 1037 | D>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2072596959 | 1037 | D>G | No | gnomAD | |
rs143090408 COSM106397 |
1037 | D>N | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs775374932 | 1038 | L>P | No |
ExAC TOPMed gnomAD |
|
rs772212101 | 1040 | G>R | No |
ExAC gnomAD |
|
rs2142217503 | 1041 | S>* | No | Ensembl | |
rs769658262 COSM975251 |
1046 | K>N | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
rs2072594075 | 1046 | K>R | No | Ensembl | |
TCGA novel | 1047 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs759769347 | 1048 | L>F | No |
ExAC TOPMed gnomAD |
|
rs759769347 | 1048 | L>V | No |
ExAC TOPMed gnomAD |
|
rs2142217469 | 1049 | C>R | No | Ensembl | |
rs2072593880 | 1050 | M>I | No | TOPMed | |
rs2072593941 | 1050 | M>L | No | Ensembl | |
rs1383760740 | 1050 | M>T | No |
TOPMed gnomAD |
|
rs2072593941 | 1050 | M>V | No | Ensembl | |
COSM3513742 rs2072593848 |
1051 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
rs1372611792 | 1054 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1245500167 | 1055 | A>T | No | gnomAD | |
rs774340611 | 1056 | K>R | No |
ExAC gnomAD |
|
rs774340611 | 1056 | K>T | No |
ExAC gnomAD |
|
rs939198910 | 1058 | K>I | No | Ensembl | |
COSM3889230 | 1061 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs770240841 | 1062 | D>E | No | ExAC | |
rs1276748776 | 1062 | D>G | No | gnomAD | |
COSM4396688 rs1489784574 |
1062 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs1338591164 | 1064 | K>I | No | gnomAD | |
rs1196341378 | 1064 | K>Q | No |
TOPMed gnomAD |
|
rs1338591164 | 1064 | K>T | No | gnomAD | |
rs2072593328 | 1065 | L>S | No |
TOPMed gnomAD |
|
COSM975250 | 1066 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1712032679 | 1066 | A>V | No | Ensembl | |
COSM1380770 | 1068 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072593263 | 1068 | E>K | No | gnomAD | |
rs1279121035 | 1069 | S>C | No |
TOPMed gnomAD |
|
rs2072593169 | 1071 | M>L | No | Ensembl | |
COSM3513741 | 1072 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs998121646 | 1073 | T>I | No |
TOPMed gnomAD |
|
COSM3513740 | 1074 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs201422966 | 1076 | D>N | No |
1000Genomes ExAC gnomAD |
|
rs200557847 | 1077 | K>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs945111451 | 1079 | Q>* | No | TOPMed | |
rs2142217303 | 1081 | N>D | No | Ensembl | |
rs1344045362 | 1081 | N>K | No | gnomAD | |
rs368049108 | 1082 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs756795625 | 1083 | K>R | No |
ExAC gnomAD |
|
rs1467646592 | 1084 | L>H | No | gnomAD | |
rs1166288683 | 1084 | L>I | No | gnomAD | |
rs1056421424 | 1087 | K>N | No | Ensembl | |
TCGA novel rs1362038893 |
1088 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1189558483 | 1088 | E>G | No | gnomAD | |
rs1362038893 | 1088 | E>Q | No |
TOPMed gnomAD |
|
rs747269815 | 1091 | M>I | No |
ExAC gnomAD |
|
rs778641189 COSM1520173 |
1092 | S>R | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs1020473523 | 1093 | N>Y | No | TOPMed | |
rs1284517084 | 1095 | Q>* | No | gnomAD | |
TCGA novel | 1096 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1206134518 | 1098 | I>V | No | gnomAD | |
rs1597417804 | 1099 | E>D | No | Ensembl | |
rs1350384582 | 1099 | E>K | No | gnomAD | |
rs1278100620 | 1100 | D>N | No | gnomAD | |
rs1248808697 | 1102 | Q>* | No |
TOPMed gnomAD |
|
rs1384106240 | 1103 | A>P | No | gnomAD | |
rs1314527430 | 1104 | L>F | No | gnomAD | |
rs368552432 | 1105 | A>T | No | Ensembl | |
COSM3513738 | 1105 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1003442237 | 1106 | I>K | No | Ensembl | |
VAR_030199 rs917361 |
1106 | I>M | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1221894964 | 1107 | Q>* | No | gnomAD | |
rs1319201819 | 1108 | L>P | No | gnomAD | |
rs1567700885 | 1109 | Q>* | No | Ensembl | |
rs1400287821 | 1109 | Q>P | No |
TOPMed gnomAD |
|
rs1400287821 | 1109 | Q>R | No |
TOPMed gnomAD |
|
rs757192625 | 1110 | K>T | No |
ExAC TOPMed gnomAD |
|
rs752663517 | 1111 | K>T | No |
ExAC gnomAD |
|
rs144235311 | 1112 | I>S | No |
ESP ExAC TOPMed gnomAD |
|
rs1384522709 | 1112 | I>V | No |
TOPMed gnomAD |
|
COSM2924920 | 1114 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM5385645 | 1114 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1450761370 | 1116 | Q>* | No | gnomAD | |
rs2072587319 | 1116 | Q>H | No | TOPMed | |
rs1242391563 | 1116 | Q>R | No | gnomAD | |
rs16943441 VAR_030200 |
1117 | A>D | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs16943441 | 1117 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs560659055 | 1118 | R>C | No |
ExAC TOPMed gnomAD |
|
COSM1380769 rs1248088400 |
1118 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs373776544 | 1119 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
COSM4394151 | 1120 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072586283 | 1120 | E>Q | No | TOPMed | |
rs751412957 COSM705149 |
1121 | E>* | lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs779803978 | 1121 | E>A | No |
ExAC gnomAD |
|
rs2072585929 | 1123 | E>G | No | TOPMed | |
rs765376875 | 1123 | E>Q | No |
ExAC gnomAD |
|
rs753811729 | 1124 | E>K | No |
ExAC TOPMed gnomAD |
|
rs1444870860 | 1124 | E>V | No | gnomAD | |
rs764691231 | 1125 | E>G | No |
ExAC TOPMed gnomAD |
|
COSM4403552 rs200153692 |
1125 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs758103116 | 1126 | I>V | No | Ensembl | |
COSM3513737 rs574656865 |
1127 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs574656865 | 1127 | E>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs775970722 | 1128 | A>T | No |
ExAC TOPMed gnomAD |
|
rs772548795 | 1130 | R>G | No |
ExAC TOPMed gnomAD |
|
rs1169215994 | 1130 | R>Q | No | gnomAD | |
rs772548795 | 1130 | R>W | No |
ExAC TOPMed gnomAD |
|
rs371105683 | 1132 | S>C | No | gnomAD | |
TCGA novel | 1132 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072585397 | 1132 | S>P | No |
TOPMed gnomAD |
|
rs762757884 | 1133 | R>G | No |
ExAC TOPMed gnomAD |
|
rs987033458 | 1133 | R>P | No |
TOPMed gnomAD |
|
rs987033458 | 1133 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs762757884 | 1133 | R>W | No |
ExAC TOPMed gnomAD |
|
rs2072585148 | 1134 | A>T | No | Ensembl | |
rs1429029465 | 1134 | A>V | No | gnomAD | |
rs1477644683 | 1135 | K>E | No |
TOPMed gnomAD |
|
COSM4063820 | 1136 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 1137 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs772999096 | 1139 | Q>* | No |
ExAC gnomAD |
|
rs769526708 COSM435992 |
1140 | R>C | Variant assessed as Somatic; MODERATE impact. central_nervous_system breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs769526708 | 1140 | R>G | No |
ExAC TOPMed gnomAD |
|
rs149818821 | 1140 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs149818821 | 1140 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs769526708 | 1140 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1199351424 | 1141 | S>C | No |
TOPMed gnomAD |
|
rs1639998235 | 1142 | D>G | No | TOPMed | |
COSM472270 | 1144 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3969802 rs534689609 |
1145 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs975567940 | 1145 | R>W | No |
TOPMed gnomAD |
|
COSM4901511 | 1146 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs183425834 | 1148 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs758195184 | 1149 | E>D | No |
ExAC TOPMed gnomAD |
|
rs750161709 | 1150 | I>M | No |
ExAC TOPMed gnomAD |
|
rs1439867855 | 1150 | I>S | No |
TOPMed gnomAD |
|
rs1439867855 | 1150 | I>T | No |
TOPMed gnomAD |
|
rs2072584409 | 1151 | S>R | No | TOPMed | |
rs757380376 | 1153 | R>S | No |
ExAC TOPMed gnomAD |
|
rs1403428792 | 1155 | E>K | No | gnomAD | |
rs1403428792 | 1155 | E>Q | No | gnomAD | |
rs753989447 | 1156 | E>A | No |
ExAC TOPMed gnomAD |
|
rs966318616 | 1158 | G>D | No |
TOPMed gnomAD |
|
rs764056557 COSM4063819 |
1158 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs1218852797 | 1159 | G>R | No | Ensembl | |
rs761299869 | 1161 | T>I | No |
ExAC TOPMed gnomAD |
|
rs761299869 | 1161 | T>S | No |
ExAC TOPMed gnomAD |
|
rs1177159333 | 1163 | A>D | No | gnomAD | |
rs200035231 | 1164 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1034993032 | 1164 | Q>R | No |
TOPMed gnomAD |
|
rs760004906 | 1165 | I>T | No |
ExAC TOPMed gnomAD |
|
rs1204321579 | 1166 | E>G | No | gnomAD | |
rs774820495 | 1167 | M>T | No |
ExAC TOPMed gnomAD |
|
rs765024883 | 1168 | N>S | No |
ExAC gnomAD |
|
rs139851738 | 1169 | K>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2142216443 | 1169 | K>Q | No | Ensembl | |
rs147723359 COSM302706 |
1171 | R>Q | central_nervous_system [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
rs768048365 | 1171 | R>W | No |
ExAC TOPMed gnomAD |
|
rs781008972 | 1172 | E>K | No | TOPMed | |
rs775420610 | 1173 | A>S | No |
ExAC gnomAD |
|
rs775420610 | 1173 | A>T | No |
ExAC gnomAD |
|
rs1315208782 | 1174 | E>K | No |
TOPMed gnomAD |
|
rs2072583349 | 1175 | F>C | No |
TOPMed gnomAD |
|
rs745693762 | 1176 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs778646470 | 1178 | M>I | No |
ExAC TOPMed gnomAD |
|
rs1271994413 | 1178 | M>T | No | Ensembl | |
rs757546892 | 1179 | R>C | No |
ExAC TOPMed |
|
rs752287908 | 1179 | R>H | No |
ExAC TOPMed gnomAD |
|
rs752287908 | 1179 | R>L | No |
ExAC TOPMed gnomAD |
|
rs752287908 | 1179 | R>P | No |
ExAC TOPMed gnomAD |
|
rs757546892 | 1179 | R>S | No |
ExAC TOPMed |
|
rs1294871572 | 1180 | R>K | No |
TOPMed gnomAD |
|
rs2072582838 | 1180 | R>S | No | TOPMed | |
rs777973144 | 1181 | D>N | No |
ExAC gnomAD |
|
rs1346193897 | 1182 | L>M | No | gnomAD | |
rs2072582695 | 1182 | L>P | No | gnomAD | |
COSM3889229 rs756149036 |
1183 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs949287079 | 1184 | E>D | No | TOPMed | |
COSM3513734 | 1184 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs768173930 | 1185 | S>A | No |
ExAC gnomAD |
|
rs755514203 | 1185 | S>F | No |
ExAC gnomAD |
|
rs1597417477 | 1186 | T>P | No | Ensembl | |
rs1188534711 | 1187 | L>R | No |
TOPMed gnomAD |
|
rs2072582149 | 1189 | H>Y | No | Ensembl | |
COSM4063818 rs766733986 |
1190 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs202092228 | 1192 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1292373709 | 1192 | T>P | No | gnomAD | |
rs1382441686 | 1193 | A>E | No | gnomAD | |
rs1297047217 | 1193 | A>S | No | gnomAD | |
rs1382441686 | 1193 | A>V | No | gnomAD | |
rs1237006529 | 1196 | L>F | No |
TOPMed gnomAD |
|
rs770623983 | 1197 | R>L | No |
ExAC TOPMed gnomAD |
|
rs770623983 | 1197 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs745781422 | 1197 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs61745308 | 1198 | K>Q | No |
ExAC TOPMed gnomAD |
|
rs1368058892 | 1199 | K>Q | No | gnomAD | |
rs909052554 | 1199 | K>R | No |
TOPMed gnomAD |
|
TCGA novel | 1200 | H>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1366797907 | 1200 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1424537580 | 1200 | H>Y | No | gnomAD | |
rs199911085 | 1201 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs199911085 | 1201 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs369346437 | 1202 | D>G | No |
ESP ExAC gnomAD |
|
rs2072580402 | 1205 | A>S | No | TOPMed | |
rs755604337 | 1207 | L>F | No |
ExAC gnomAD |
|
rs755604337 | 1207 | L>V | No |
ExAC gnomAD |
|
rs11651295 | 1209 | E>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
VAR_030201 rs11651295 |
1209 | E>K | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs11651295 | 1209 | E>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs376404318 | 1211 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
rs758703337 | 1211 | I>V | No |
ExAC gnomAD |
|
rs141172847 | 1212 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1567700549 | 1212 | D>N | No | Ensembl | |
rs141172847 | 1212 | D>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1306629267 | 1213 | S>C | No |
TOPMed gnomAD |
|
rs1306629267 | 1213 | S>G | No |
TOPMed gnomAD |
|
rs1292967796 | 1213 | S>N | No |
TOPMed gnomAD |
|
rs766999823 | 1216 | R>L | No |
ExAC gnomAD |
|
rs766999823 | 1216 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs202186253 | 1216 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1597417323 | 1217 | V>G | No | Ensembl | |
rs549913706 | 1219 | Q>* | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs774158720 | 1219 | Q>H | No |
ExAC TOPMed gnomAD |
|
rs549913706 | 1219 | Q>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs989068270 | 1220 | K>N | No |
TOPMed gnomAD |
|
rs770839097 | 1220 | K>R | No |
ExAC TOPMed gnomAD |
|
rs770839097 | 1220 | K>T | No |
ExAC TOPMed gnomAD |
|
rs1429742769 | 1221 | L>Q | No | gnomAD | |
rs374726225 | 1221 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
rs1258473540 | 1222 | E>Q | No | gnomAD | |
COSM1709840 | 1224 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072578995 | 1225 | K>M | No |
TOPMed gnomAD |
|
COSM975248 | 1225 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs752710387 | 1226 | S>G | No | Ensembl | |
rs148634488 | 1226 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs200647917 | 1227 | E>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs781491412 | 1227 | E>G | No |
ExAC gnomAD |
|
rs748369865 | 1227 | E>K | No |
ExAC gnomAD |
|
rs747029146 | 1228 | L>P | No |
ExAC TOPMed gnomAD |
|
rs2142216094 | 1230 | M>I | No | Ensembl | |
rs1023584107 | 1230 | M>V | No | Ensembl | |
rs2072578577 | 1232 | I>T | No | Ensembl | |
rs2142216082 | 1233 | N>D | No | Ensembl | |
rs899022774 | 1233 | N>K | No | Ensembl | |
rs1284391165 | 1233 | N>S | No | gnomAD | |
rs750793248 | 1234 | D>N | No |
ExAC TOPMed gnomAD |
|
rs750793248 | 1234 | D>Y | No |
ExAC TOPMed gnomAD |
|
rs779314674 | 1235 | L>V | No |
ExAC TOPMed gnomAD |
|
rs867472356 | 1237 | S>N | No | Ensembl | |
rs774640951 | 1239 | M>T | No | Ensembl | |
rs1392432865 | 1239 | M>V | No |
TOPMed gnomAD |
|
rs752341161 | 1240 | E>G | No |
ExAC gnomAD |
|
rs755820171 | 1240 | E>K | No |
ExAC TOPMed gnomAD |
|
rs1407096530 | 1241 | T>A | No |
TOPMed gnomAD |
|
rs1407096530 | 1241 | T>P | No |
TOPMed gnomAD |
|
rs759057518 | 1242 | V>A | No |
ExAC TOPMed gnomAD |
|
rs759057518 | 1242 | V>D | No |
ExAC TOPMed gnomAD |
|
rs759057518 | 1242 | V>G | No |
ExAC TOPMed gnomAD |
|
COSM435991 | 1245 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs751028346 COSM559488 COSM6080158 |
1246 | K>N | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated ExAC gnomAD NCI-TCGA Cosmic |
rs750381660 | 1247 | A>T | No |
ExAC gnomAD |
|
rs1228470987 | 1248 | N>T | No |
TOPMed gnomAD |
|
rs1040440089 | 1252 | M>K | No |
TOPMed gnomAD |
|
rs1040440089 | 1252 | M>T | No |
TOPMed gnomAD |
|
rs149490425 | 1254 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs200121484 COSM180572 |
1254 | R>H | large_intestine [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
COSM353935 rs540884659 |
1255 | T>S | lung [Cosmic] | No |
cosmic curated 1000Genomes ExAC gnomAD |
rs1353705470 COSM313028 |
1256 | L>V | lung [Cosmic] | No |
cosmic curated gnomAD |
rs760928970 | 1257 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs772186066 | 1259 | Q>P | No |
ExAC TOPMed gnomAD |
|
rs772186066 | 1259 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs745867889 | 1260 | L>H | No |
ExAC gnomAD |
|
rs2072572155 | 1261 | S>N | No | Ensembl | |
RCV000952758 rs34610503 |
1261 | S>R | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
TCGA novel | 1262 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1263 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs771377301 | 1264 | K>I | No |
ExAC gnomAD |
|
rs1567700217 | 1265 | T>A | No | Ensembl | |
rs2072571871 | 1266 | K>E | No |
TOPMed gnomAD |
|
COSM5724260 rs865831195 |
1267 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs2072571717 | 1268 | E>G | No |
TOPMed gnomAD |
|
rs373384334 | 1269 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
rs1481121509 | 1270 | Q>E | No |
TOPMed gnomAD |
|
rs189738574 | 1272 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs189738574 | 1272 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs757941172 | 1272 | R>H | No |
ExAC TOPMed gnomAD |
|
rs757941172 | 1272 | R>P | No |
ExAC TOPMed gnomAD |
|
rs749854300 | 1274 | I>V | No |
ExAC gnomAD |
|
rs765298731 | 1276 | E>D | No |
ExAC gnomAD |
|
rs1261429388 | 1277 | L>* | No | gnomAD | |
rs1225371790 | 1277 | L>F | No |
TOPMed gnomAD |
|
rs1488156536 | 1277 | L>M | No |
TOPMed gnomAD |
|
rs145453135 | 1278 | S>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1289317800 | 1279 | A>T | No | gnomAD | |
rs753734218 | 1279 | A>V | No |
ExAC gnomAD |
|
rs2072571049 | 1280 | Q>H | No | Ensembl | |
rs141846097 | 1282 | A>G | No |
ESP ExAC TOPMed gnomAD |
|
rs1341777727 | 1282 | A>P | No | gnomAD | |
rs1341777727 | 1282 | A>S | No | gnomAD | |
rs141846097 | 1282 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
rs117895047 | 1283 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs117895047 | 1283 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs138779851 | 1283 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
rs138779851 | 1283 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs117895047 | 1283 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1304664348 COSM5810200 |
1285 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs2142215289 | 1285 | H>Y | No | Ensembl | |
rs995951685 | 1286 | T>K | No |
TOPMed gnomAD |
|
rs995951685 | 1286 | T>R | No |
TOPMed gnomAD |
|
COSM3513733 | 1287 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs991841702 | 1288 | S>T | No |
TOPMed gnomAD |
|
rs762957514 | 1289 | G>A | No |
ExAC gnomAD |
|
rs762957514 | 1289 | G>D | No |
ExAC gnomAD |
|
rs372406999 | 1289 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
COSM6145636 | 1290 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs773726393 | 1290 | E>V | No |
ExAC gnomAD |
|
rs150398276 | 1291 | F>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs763090716 COSM5487311 |
1293 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs565082643 | 1293 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs1335186818 | 1294 | Q>H | No |
TOPMed gnomAD |
|
TCGA novel | 1295 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072565561 | 1296 | D>G | No | TOPMed | |
rs1161450776 | 1296 | D>N | No | gnomAD | |
COSM4903103 rs267604704 |
1297 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs2072565470 | 1298 | K>E | No | TOPMed | |
rs140459675 | 1298 | K>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM3818785 | 1299 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM342219 | 1299 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs745501003 | 1300 | A>P | No |
ExAC gnomAD |
|
rs745501003 | 1300 | A>S | No |
ExAC gnomAD |
|
rs1311415448 | 1300 | A>V | No |
TOPMed gnomAD |
|
rs942096262 | 1301 | M>T | No | Ensembl | |
rs778631580 | 1301 | M>V | No |
ExAC gnomAD |
|
rs2072565250 | 1302 | V>F | No | Ensembl | |
COSM4942569 | 1303 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3513731 | 1304 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs748749720 | 1304 | Q>H | No |
ExAC gnomAD |
|
rs1459075599 | 1305 | L>Q | No | Ensembl | |
rs1013149936 | 1306 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs151253822 COSM180571 |
1307 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs531306170 | 1307 | R>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2072564876 | 1308 | G>V | No | Ensembl | |
rs1597416627 | 1310 | Q>* | No | Ensembl | |
rs1597416627 | 1310 | Q>E | No | Ensembl | |
RCV000898031 rs143271333 |
1311 | A>T | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs940157631 | 1312 | F>L | No | Ensembl | |
COSM705150 | 1315 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1358953939 | 1315 | Q>L | No | gnomAD | |
rs780825257 | 1316 | I>F | No |
ExAC TOPMed gnomAD |
|
rs368290635 | 1316 | I>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs780825257 | 1316 | I>V | No |
ExAC TOPMed gnomAD |
|
rs2072564569 | 1317 | E>Q | No | Ensembl | |
COSM4546216 | 1318 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1178151179 | 1319 | L>F | No |
TOPMed gnomAD |
|
rs751786895 | 1319 | L>S | No |
ExAC gnomAD |
|
rs2072564484 | 1321 | R>K | No | TOPMed | |
TCGA novel | 1321 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1437882723 | 1321 | R>S | No |
TOPMed gnomAD |
|
rs375726698 | 1323 | L>P | No |
ESP TOPMed |
|
COSM3513730 | 1324 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs763046982 | 1325 | E>D | No |
ExAC gnomAD |
|
rs766533991 | 1325 | E>G | No |
ExAC gnomAD |
|
rs1200956007 | 1325 | E>Q | No |
TOPMed gnomAD |
|
rs765813801 | 1326 | E>G | No |
ExAC gnomAD |
|
rs750462554 | 1326 | E>K | No |
ExAC TOPMed gnomAD |
|
rs2072564153 | 1327 | T>A | No | Ensembl | |
rs2072564153 | 1327 | T>S | No | Ensembl | |
rs371220617 | 1327 | T>S | No |
ESP ExAC TOPMed gnomAD |
|
rs1317485552 | 1328 | K>R | No |
TOPMed gnomAD |
|
rs1317485552 | 1328 | K>T | No |
TOPMed gnomAD |
|
rs1373040808 | 1329 | A>P | No |
TOPMed gnomAD |
|
TCGA novel | 1329 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1319595841 | 1330 | K>E | No | gnomAD | |
rs1319595841 | 1330 | K>Q | No | gnomAD | |
rs2072562482 | 1330 | K>R | No | Ensembl | |
rs2072562448 | 1331 | S>G | No | gnomAD | |
rs1243341718 | 1332 | T>N | No | gnomAD | |
rs1597416484 | 1332 | T>P | No | Ensembl | |
TCGA novel | 1334 | A>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1031936031 | 1334 | A>T | No |
TOPMed gnomAD |
|
rs914390355 | 1334 | A>V | No | Ensembl | |
rs2072562253 | 1335 | H>Y | No | TOPMed | |
rs989911814 | 1336 | A>D | No | gnomAD | |
rs989911814 | 1336 | A>V | No | gnomAD | |
rs2072562146 | 1339 | S>P | No | Ensembl | |
rs765219970 | 1341 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs757847488 | 1341 | R>H | No |
ExAC TOPMed gnomAD |
|
rs757847488 | 1341 | R>P | No |
ExAC TOPMed gnomAD |
|
rs754303548 | 1342 | H>Q | No |
ExAC TOPMed gnomAD |
|
rs1367994113 | 1342 | H>R | No |
TOPMed gnomAD |
|
TCGA novel | 1342 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072561943 | 1343 | D>N | No | Ensembl | |
rs1567699833 | 1346 | L>P | No | Ensembl | |
rs532853249 | 1348 | R>G | No |
ExAC TOPMed gnomAD |
|
rs142444048 | 1348 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
COSM357845 rs532853249 |
1348 | R>W | lung large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs1280505347 | 1351 | Y>H | No |
TOPMed gnomAD |
|
TCGA novel | 1352 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs766165386 | 1352 | E>G | No |
ExAC gnomAD |
|
rs2072561571 | 1353 | E>K | No | TOPMed | |
TCGA novel | 1354 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs199637077 | 1354 | E>K | No | TOPMed | |
rs199637077 | 1354 | E>Q | No | TOPMed | |
rs2072561402 | 1355 | Q>R | No | Ensembl | |
TCGA novel rs1208775437 |
1357 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs1208775437 | 1357 | A>G | No |
TOPMed gnomAD |
|
rs1264912977 | 1357 | A>T | No |
TOPMed gnomAD |
|
rs1208775437 | 1357 | A>V | No |
TOPMed gnomAD |
|
rs200793281 | 1358 | K>E | No |
1000Genomes ExAC gnomAD |
|
rs1013367290 | 1359 | A>T | No | Ensembl | |
rs1187512563 | 1359 | A>V | No |
TOPMed gnomAD |
|
rs981144873 | 1360 | E>K | No | Ensembl | |
rs776459596 | 1361 | L>R | No |
ExAC gnomAD |
|
rs1278037654 | 1362 | Q>R | No |
TOPMed gnomAD |
|
rs201813015 | 1363 | R>K | No |
1000Genomes ExAC gnomAD |
|
rs1360551263 | 1364 | G>A | No |
TOPMed gnomAD |
|
rs1360551263 | 1364 | G>E | No |
TOPMed gnomAD |
|
COSM3513729 | 1364 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1360551263 | 1364 | G>V | No |
TOPMed gnomAD |
|
COSM3795259 | 1366 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs971078039 | 1367 | K>R | No |
TOPMed gnomAD |
|
rs971078039 | 1367 | K>T | No |
TOPMed gnomAD |
|
rs2072560851 | 1369 | N>D | No |
TOPMed gnomAD |
|
rs746847930 | 1369 | N>K | No |
ExAC gnomAD |
|
rs1175598762 | 1369 | N>S | No |
TOPMed gnomAD |
|
rs1388672752 | 1370 | S>I | No | gnomAD | |
rs1388672752 | 1370 | S>N | No | gnomAD | |
rs758679319 | 1371 | E>D | No |
ExAC TOPMed gnomAD |
|
rs779803688 | 1371 | E>G | No |
ExAC TOPMed gnomAD |
|
rs2072560664 | 1373 | A>T | No | Ensembl | |
TCGA novel | 1374 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs746074079 | 1374 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs779123712 | 1375 | W>* | No |
ExAC gnomAD |
|
rs34987433 | 1377 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs34987433 | 1377 | T>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs145607023 | 1378 | K>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs375911403 | 1379 | Y>* | No |
ESP ExAC TOPMed gnomAD |
|
rs759797559 | 1379 | Y>D | No |
ExAC TOPMed gnomAD |
|
rs759797559 | 1379 | Y>H | No |
ExAC TOPMed gnomAD |
|
rs2072560320 | 1380 | E>D | No | TOPMed | |
rs199837494 COSM1709839 |
1380 | E>K | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
rs930410014 | 1381 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
COSM3513728 | 1382 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1256887047 | 1383 | A>S | No |
TOPMed gnomAD |
|
rs1256887047 COSM975246 |
1383 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs2072560154 | 1384 | I>T | No | Ensembl | |
rs1047799275 | 1385 | Q>R | No | Ensembl | |
rs201301118 COSM975245 |
1386 | R>C | endometrium [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs201301118 | 1386 | R>G | No |
ExAC TOPMed gnomAD |
|
COSM294591 rs768630081 |
1386 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs1485101717 | 1387 | T>A | No |
TOPMed gnomAD |
|
TCGA novel | 1388 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs775332751 COSM357970 |
1389 | E>D | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs1427822102 | 1389 | E>K | No | gnomAD | |
rs2072559892 | 1390 | L>P | No | TOPMed | |
COSM223852 rs771857725 |
1391 | E>K | skin [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs1254209731 | 1392 | E>K | No |
TOPMed gnomAD |
|
rs745617121 | 1393 | A>S | No |
ExAC gnomAD |
|
rs745617121 | 1393 | A>T | No |
ExAC gnomAD |
|
rs1259528530 | 1394 | K>R | No | gnomAD | |
rs749508489 | 1395 | K>N | No |
ExAC TOPMed gnomAD |
|
rs370459149 | 1397 | L>P | No |
ESP ExAC TOPMed gnomAD |
|
rs370459149 | 1397 | L>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs781773161 | 1398 | A>D | No |
ExAC TOPMed gnomAD |
|
rs781773161 | 1398 | A>G | No |
ExAC TOPMed gnomAD |
|
rs781773161 | 1398 | A>V | No |
ExAC TOPMed gnomAD |
|
rs147966650 | 1399 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs373105410 | 1400 | R>C | No |
ESP ExAC TOPMed gnomAD |
|
rs369407729 | 1400 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs2142212669 | 1401 | L>P | No | Ensembl | |
rs756927703 | 1402 | Q>* | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1402 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs763676829 | 1403 | D>N | No |
ExAC TOPMed gnomAD |
|
rs1597415704 | 1404 | A>S | No | Ensembl | |
COSM4940908 | 1405 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1242826345 | 1405 | E>V | No | gnomAD | |
TCGA novel | 1406 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072544287 | 1406 | E>K | No |
TOPMed gnomAD |
|
rs760199749 | 1407 | H>Y | No |
ExAC gnomAD |
|
rs2072544205 | 1409 | E>A | No | Ensembl | |
rs747413354 | 1409 | E>K | No |
ExAC TOPMed gnomAD |
|
rs747413354 | 1409 | E>Q | No |
ExAC TOPMed gnomAD |
|
rs1399390545 | 1410 | A>G | No |
TOPMed gnomAD |
|
rs778274146 | 1411 | V>A | No | Ensembl | |
rs2072544114 | 1412 | N>S | No | TOPMed | |
rs2072544085 | 1414 | K>N | No | TOPMed | |
COSM6080160 | 1415 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs201934117 | 1415 | C>Y | No |
1000Genomes ExAC gnomAD |
|
rs566584449 | 1416 | A>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 1417 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1161129176 | 1419 | E>A | No | gnomAD | |
rs1040645933 | 1420 | K>N | No | Ensembl | |
rs773594087 | 1421 | T>I | No |
ExAC TOPMed gnomAD |
|
rs773594087 | 1421 | T>R | No |
ExAC TOPMed gnomAD |
|
rs1249930810 | 1423 | Q>H | No | TOPMed | |
rs2072543681 | 1424 | R>K | No | TOPMed | |
COSM2924891 | 1428 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1194831647 | 1431 | D>G | No | gnomAD | |
rs551169093 COSM975242 |
1432 | L>F | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA |
rs1188213463 | 1433 | M>I | No | TOPMed | |
rs776833623 | 1433 | M>K | No |
ExAC gnomAD |
|
rs748282037 | 1433 | M>V | No |
ExAC TOPMed gnomAD |
|
rs547505768 | 1434 | I>M | No |
ExAC gnomAD |
|
rs1224358883 | 1434 | I>N | No | gnomAD | |
rs2072543351 | 1435 | D>N | No | Ensembl | |
rs747548431 | 1436 | V>M | No |
ExAC gnomAD |
|
rs370141150 COSM3402583 |
1438 | R>* | Variant assessed as Somatic; HIGH impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs139449510 | 1438 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs139449510 | 1438 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs1376948671 | 1440 | N>I | No | TOPMed | |
TCGA novel | 1440 | N>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1217753960 | 1442 | A>V | No |
TOPMed gnomAD |
|
rs1276570228 | 1443 | C>* | No | gnomAD | |
TCGA novel | 1443 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs777434182 | 1443 | C>S | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1443 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs199631660 | 1444 | I>T | No |
1000Genomes ExAC gnomAD |
|
rs752253380 | 1445 | A>G | No |
ExAC TOPMed gnomAD |
|
rs2072542879 | 1445 | A>S | No | Ensembl | |
rs766168759 | 1447 | D>G | No |
ExAC TOPMed gnomAD |
|
COSM225378 rs751516938 |
1447 | D>N | NS skin haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs150514431 | 1448 | K>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs2142212491 | 1451 | R>G | No | Ensembl | |
rs1301432607 | 1451 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
COSM3513726 | 1451 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs773113530 | 1453 | F>C | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1454 | D>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs986257571 | 1454 | D>E | No | gnomAD | |
rs1567699132 | 1454 | D>V | No | TOPMed | |
rs765120617 | 1457 | L>P | No |
ExAC TOPMed gnomAD |
|
rs2072541184 | 1458 | A>E | No | Ensembl | |
rs1353801620 | 1459 | E>K | No | gnomAD | |
TCGA novel | 1460 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1380768 | 1461 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs776926558 | 1462 | Q>* | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1463 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072540960 | 1463 | K>T | No | TOPMed | |
rs540842824 | 1464 | Y>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs540842824 | 1464 | Y>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2072540930 | 1464 | Y>H | No |
TOPMed gnomAD |
|
rs540842824 | 1464 | Y>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs758608739 | 1468 | Q>E | No |
ExAC gnomAD |
|
rs758608739 | 1468 | Q>K | No |
ExAC gnomAD |
|
COSM341080 | 1470 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1358897928 | 1471 | L>F | No | gnomAD | |
rs1358897928 COSM975241 |
1471 | L>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs1567699067 | 1471 | L>P | No | Ensembl | |
rs1567699060 | 1472 | E>G | No | Ensembl | |
rs772615336 | 1472 | E>Q | No |
ExAC gnomAD |
|
rs774759925 | 1473 | A>D | No |
ExAC TOPMed gnomAD |
|
rs774759925 | 1473 | A>G | No |
ExAC TOPMed gnomAD |
|
rs760022350 | 1473 | A>T | No |
ExAC TOPMed gnomAD |
|
rs1417628767 | 1474 | S>F | No | gnomAD | |
rs796162284 | 1475 | Q>* | No | Ensembl | |
rs112589958 | 1475 | Q>R | No |
ExAC TOPMed gnomAD |
|
rs780917874 | 1477 | E>K | No |
ExAC TOPMed gnomAD |
|
rs768165008 | 1478 | S>* | No |
ExAC TOPMed gnomAD |
|
rs768165008 | 1478 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs1452946539 | 1478 | S>T | No | gnomAD | |
rs768165008 | 1478 | S>W | No |
ExAC TOPMed gnomAD |
|
COSM435990 rs61745309 |
1479 | R>C | breast [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs1488567340 COSM705155 |
1479 | R>H | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs1488567340 | 1479 | R>L | No |
TOPMed gnomAD |
|
rs750395177 | 1482 | S>T | No |
ExAC TOPMed gnomAD |
|
rs2072539919 | 1483 | T>I | No | Ensembl | |
rs1323192898 | 1486 | F>L | No |
TOPMed gnomAD |
|
rs1313015704 | 1487 | K>Q | No | gnomAD | |
rs2072539685 | 1488 | V>A | No | gnomAD | |
rs778940260 | 1488 | V>L | No |
ExAC TOPMed gnomAD |
|
rs778940260 | 1488 | V>M | No |
ExAC TOPMed gnomAD |
|
rs1034005401 | 1489 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs757143133 | 1491 | A>T | No |
ExAC gnomAD |
|
rs1361730347 | 1491 | A>V | No | gnomAD | |
rs753534048 | 1492 | Y>* | No |
ExAC TOPMed gnomAD |
|
COSM975238 rs2072539557 |
1492 | Y>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
TCGA novel | 1492 | Y>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs764414171 | 1493 | E>D | No |
ExAC TOPMed gnomAD |
|
rs1451700052 COSM1709838 |
1493 | E>K | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
COSM6145637 | 1494 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM1709837 | 1495 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1025373253 | 1495 | S>T | No | Ensembl | |
rs760782897 | 1495 | S>Y | No |
ExAC gnomAD |
|
TCGA novel | 1496 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1002727252 | 1496 | L>V | No |
TOPMed gnomAD |
|
rs767580229 | 1497 | D>H | No |
ExAC gnomAD |
|
TCGA novel | 1497 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM417207 | 1498 | H>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM3513724 | 1498 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs375265324 | 1499 | L>P | No |
ESP ExAC TOPMed gnomAD |
|
rs375265324 | 1499 | L>R | No |
ESP ExAC TOPMed gnomAD |
|
rs2072539024 | 1502 | L>V | No | TOPMed | |
rs1323112846 | 1503 | K>Q | No |
TOPMed gnomAD |
|
rs1025892606 | 1504 | R>* | No |
TOPMed gnomAD |
|
rs372199278 | 1504 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
TCGA novel | 1510 | Q>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1563420 rs545963911 |
1511 | Q>* | Variant assessed as Somatic; HIGH impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel rs773693536 |
1511 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD NCI-TCGA |
rs370507324 | 1514 | S>C | No |
ESP TOPMed gnomAD |
|
COSM3818784 | 1515 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1382070950 | 1517 | T>A | No | Ensembl | |
rs146240035 | 1517 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs146240035 | 1517 | T>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM975237 | 1518 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs539159122 | 1518 | E>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
COSM5706287 | 1519 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072537393 | 1519 | Q>R | No | gnomAD | |
rs568889684 | 1520 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 1521 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1447709059 | 1522 | E>A | No | gnomAD | |
rs550607214 | 1522 | E>K | No |
1000Genomes ExAC gnomAD |
|
rs550607214 | 1522 | E>Q | No |
1000Genomes ExAC gnomAD |
|
rs773974223 | 1523 | G>A | No |
ExAC TOPMed gnomAD |
|
rs866181641 | 1524 | G>R | No | gnomAD | |
rs528863275 | 1525 | K>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2072537095 | 1526 | H>N | No | TOPMed | |
rs181765764 | 1527 | I>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs777699912 | 1527 | I>N | No |
ExAC gnomAD |
|
rs1178876806 | 1528 | H>R | No |
TOPMed gnomAD |
|
rs747887981 | 1528 | H>Y | No |
ExAC gnomAD |
|
rs141781553 | 1529 | E>* | No |
ESP ExAC TOPMed gnomAD |
|
rs138746427 | 1529 | E>V | No |
ESP ExAC TOPMed gnomAD |
|
rs2072536849 | 1530 | L>P | No | TOPMed | |
rs1484553229 | 1532 | K>T | No | gnomAD | |
rs1257120101 | 1533 | V>I | No |
TOPMed gnomAD |
|
TCGA novel rs766443281 |
1534 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC TOPMed gnomAD NCI-TCGA |
rs750911851 | 1537 | L>F | No |
ExAC TOPMed gnomAD |
|
rs1376435933 | 1537 | L>P | No |
TOPMed gnomAD |
|
rs1376435933 | 1537 | L>R | No |
TOPMed gnomAD |
|
rs868682593 | 1538 | D>N | No | gnomAD | |
rs200269775 | 1539 | H>R | No |
ExAC TOPMed gnomAD |
|
COSM3513723 | 1539 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM975236 | 1541 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1302227741 | 1542 | S>N | No |
TOPMed gnomAD |
|
rs1041841623 | 1543 | E>K | No | Ensembl | |
rs762118343 | 1544 | L>P | No |
ExAC TOPMed gnomAD |
|
rs762118343 | 1544 | L>Q | No |
ExAC TOPMed gnomAD |
|
rs762118343 | 1544 | L>R | No |
ExAC TOPMed gnomAD |
|
rs777107832 | 1545 | Q>P | No |
ExAC TOPMed gnomAD |
|
rs777107832 | 1545 | Q>R | No |
ExAC TOPMed gnomAD |
|
COSM230330 | 1547 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs767325292 | 1547 | S>Y | No |
ExAC gnomAD |
|
rs143170467 | 1549 | E>A | No |
ESP ExAC TOPMed gnomAD |
|
rs759247513 | 1549 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1257219835 | 1550 | E>D | No | gnomAD | |
rs770347916 | 1550 | E>G | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1551 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1385857981 | 1553 | A>E | No |
TOPMed gnomAD |
|
rs1416166399 | 1553 | A>P | No | gnomAD | |
COSM6145638 | 1553 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM472269 | 1553 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM705156 | 1554 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1474536733 | 1554 | S>T | No | gnomAD | |
rs2072531903 | 1555 | L>I | No | Ensembl | |
rs1194972803 | 1555 | L>P | No |
TOPMed gnomAD |
|
COSM2924879 rs1366396326 |
1558 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs149540598 | 1559 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
rs772745498 | 1560 | G>V | No |
ExAC gnomAD |
|
rs371801767 | 1563 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
COSM106436 rs149046569 |
1564 | R>C | skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs149046569 | 1564 | R>G | No |
ExAC TOPMed gnomAD |
|
rs141756717 | 1564 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs1481701221 | 1565 | I>T | No | Ensembl | |
rs2072531566 | 1566 | Q>K | No | TOPMed | |
rs768453596 | 1567 | L>F | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1568 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1178887633 | 1569 | L>P | No | gnomAD | |
rs746762062 | 1570 | N>K | No |
ExAC gnomAD |
|
rs1567698717 COSM3513722 |
1571 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs946233828 | 1572 | V>A | No | Ensembl | |
COSM705157 rs1324183321 |
1572 | V>M | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs780174410 | 1573 | K>I | No |
ExAC gnomAD |
|
COSM705158 | 1574 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1405664053 | 1574 | S>P | No |
TOPMed gnomAD |
|
rs1405664053 | 1574 | S>T | No |
TOPMed gnomAD |
|
rs917355687 | 1575 | E>D | No | Ensembl | |
rs2072531266 | 1575 | E>Q | No |
TOPMed gnomAD |
|
rs1567698704 | 1576 | I>L | No | Ensembl | |
rs138681227 | 1576 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
rs2072531132 | 1577 | D>N | No |
TOPMed gnomAD |
|
rs779034071 | 1578 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
rs761755212 | 1578 | R>L | No |
ExAC TOPMed gnomAD |
|
rs761755212 | 1578 | R>Q | No |
ExAC TOPMed gnomAD |
|
rs937364411 | 1580 | I>N | No | Ensembl | |
rs754397897 | 1581 | A>P | No |
ExAC TOPMed gnomAD |
|
rs1006761259 | 1582 | E>Q | No |
TOPMed gnomAD |
|
rs778362098 | 1584 | D>H | No |
ExAC gnomAD |
|
COSM1709835 rs778362098 |
1584 | D>N | skin [Cosmic] | No |
cosmic curated ExAC gnomAD |
rs756569287 | 1584 | D>V | No |
ExAC gnomAD |
|
rs1452455173 | 1585 | E>Q | No | gnomAD | |
rs2072530735 | 1587 | L>H | No | Ensembl | |
rs1212012833 | 1588 | D>H | No |
TOPMed gnomAD |
|
COSM4902933 rs1212012833 |
1588 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs2142211307 | 1589 | Q>H | No | Ensembl | |
rs774280659 | 1590 | L>P | No |
TOPMed gnomAD |
|
rs774280659 | 1590 | L>Q | No |
TOPMed gnomAD |
|
rs762642591 | 1591 | K>* | No |
ExAC gnomAD |
|
rs138113590 | 1591 | K>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs764733480 | 1592 | R>G | No |
ExAC gnomAD |
|
rs372593376 | 1592 | R>K | No |
ESP ExAC TOPMed gnomAD |
|
rs372593376 | 1592 | R>T | No |
ESP ExAC TOPMed gnomAD |
|
rs2072530402 | 1593 | N>D | No | TOPMed | |
rs2072530369 | 1593 | N>S | No | TOPMed | |
rs1348789739 | 1594 | H>N | No | TOPMed | |
rs1567698645 | 1597 | V>A | No | Ensembl | |
TCGA novel | 1598 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1600 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs768085255 | 1601 | M>I | No |
TOPMed gnomAD |
|
rs1309445141 | 1601 | M>L | No |
TOPMed gnomAD |
|
rs1402928736 | 1601 | M>T | No | gnomAD | |
rs1597415003 | 1602 | Q>L | No | Ensembl | |
rs146965064 RCV000962469 |
1603 | S>N | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM6145639 | 1605 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1349105101 | 1605 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs1230527532 | 1606 | D>G | No | TOPMed | |
rs1286934788 | 1606 | D>N | No |
TOPMed gnomAD |
|
rs1286934788 | 1606 | D>Y | No |
TOPMed gnomAD |
|
rs772244506 | 1608 | E>D | No |
ExAC TOPMed gnomAD |
|
COSM6080162 | 1608 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072529900 | 1610 | R>G | No | Ensembl | |
rs2142211176 | 1611 | S>R | No | Ensembl | |
rs1394484060 | 1614 | D>E | No |
TOPMed gnomAD |
|
rs1321177621 | 1614 | D>Y | No | TOPMed | |
COSM4924385 | 1616 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
RCV000122551 rs386352334 CA232313 |
1617 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
COSM3513720 | 1617 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1011155618 | 1617 | R>S | No | TOPMed | |
rs778931304 | 1618 | I>T | No |
ExAC gnomAD |
|
rs2072529629 | 1619 | K>N | No | Ensembl | |
rs2072529580 | 1620 | K>E | No | TOPMed | |
rs749331128 | 1620 | K>N | No |
ExAC TOPMed gnomAD |
|
rs2072529458 | 1621 | K>E | No | TOPMed | |
rs1276990712 | 1622 | M>T | No |
TOPMed gnomAD |
|
COSM3513717 rs778455809 |
1624 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs2072529311 TCGA novel |
1624 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
rs201475437 | 1625 | D>G | No | 1000Genomes | |
COSM3513716 | 1626 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072529200 | 1626 | L>R | No | TOPMed | |
COSM3513715 | 1627 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2142211118 | 1630 | E>G | No | Ensembl | |
COSM3889227 | 1630 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs965232190 | 1631 | I>V | No |
TOPMed gnomAD |
|
rs1280681037 | 1632 | Q>* | No | gnomAD | |
rs1249534277 | 1632 | Q>H | No |
TOPMed gnomAD |
|
rs868761997 COSM2924871 |
1636 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs2072528948 | 1636 | A>T | No | gnomAD | |
rs868761997 | 1636 | A>V | No | gnomAD | |
rs2072528864 | 1637 | N>K | No | TOPMed | |
rs756656952 COSM240788 |
1638 | R>C | prostate [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs781618312 | 1638 | R>H | No |
ExAC gnomAD |
|
rs781618312 | 1638 | R>L | No |
ExAC gnomAD |
|
rs560552769 | 1640 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs200529120 | 1641 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
rs750103802 | 1641 | A>V | No |
ExAC gnomAD |
|
rs1441956524 | 1642 | E>K | No |
TOPMed gnomAD |
|
rs557672306 | 1643 | A>T | No |
1000Genomes ExAC |
|
rs753318940 | 1643 | A>V | No |
ExAC TOPMed gnomAD |
|
rs1370734356 | 1646 | N>H | No | Ensembl | |
rs764071086 | 1646 | N>K | No |
ExAC TOPMed gnomAD |
|
rs2072528425 | 1647 | L>F | No | Ensembl | |
rs928153238 | 1649 | N>H | No |
TOPMed gnomAD |
|
rs376588342 | 1652 | G>E | No |
ESP ExAC TOPMed gnomAD |
|
rs2072528353 | 1652 | G>R | No | Ensembl | |
rs767346356 | 1654 | L>P | No |
ExAC TOPMed gnomAD |
|
rs759191247 | 1655 | K>Q | No |
ExAC TOPMed gnomAD |
|
rs774256554 | 1658 | Q>* | No |
ExAC TOPMed gnomAD |
|
rs774256554 | 1658 | Q>E | No |
ExAC TOPMed gnomAD |
|
rs112636796 | 1658 | Q>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2072521717 | 1661 | L>F | No | Ensembl | |
rs769933232 | 1662 | D>H | No |
ExAC gnomAD |
|
COSM3969801 | 1662 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 1664 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs147084538 | 1664 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM3402582 | 1665 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072521554 | 1665 | I>T | No | TOPMed | |
TCGA novel | 1666 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs966386646 | 1667 | G>D | No | TOPMed | |
COSM40353 | 1669 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1383457454 | 1670 | D>E | No |
TOPMed gnomAD |
|
TCGA novel | 1670 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072521406 | 1671 | L>P | No | Ensembl | |
rs1460737267 | 1672 | K>R | No |
TOPMed gnomAD |
|
rs1460737267 | 1672 | K>T | No |
TOPMed gnomAD |
|
COSM975234 | 1676 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs114833795 | 1676 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2072521151 | 1677 | M>I | No | Ensembl | |
rs1260484119 | 1677 | M>V | No | gnomAD | |
rs748940973 | 1678 | V>F | No |
ExAC gnomAD |
|
rs575635168 | 1679 | E>D | No |
TOPMed gnomAD |
|
rs149007526 COSM1128832 |
1680 | R>C | Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs781229189 COSM3969800 |
1680 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs781229189 | 1680 | R>L | No |
ExAC TOPMed gnomAD |
|
rs781229189 | 1680 | R>P | No |
ExAC TOPMed gnomAD |
|
rs897995070 | 1681 | R>G | No |
TOPMed gnomAD |
|
rs754849219 | 1681 | R>K | No | ExAC | |
rs1036347756 | 1682 | A>G | No |
TOPMed gnomAD |
|
rs1212862819 | 1684 | L>R | No | gnomAD | |
rs1295025549 | 1684 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
rs202056932 | 1685 | M>L | No |
ExAC TOPMed gnomAD |
|
rs1440387416 | 1685 | M>T | No | gnomAD | |
rs1392085836 | 1686 | Q>* | No | gnomAD | |
rs1392085836 | 1686 | Q>E | No | gnomAD | |
rs762780447 | 1687 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs2072520491 | 1688 | E>K | No | Ensembl | |
rs372233194 | 1689 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
rs2072520456 | 1689 | V>I | No |
TOPMed gnomAD |
|
rs2072520393 | 1692 | L>F | No | Ensembl | |
rs1307309485 | 1693 | R>K | No |
TOPMed gnomAD |
|
rs1372416677 | 1694 | A>T | No |
TOPMed gnomAD |
|
rs1451067234 | 1695 | S>F | No | gnomAD | |
rs2072520211 | 1696 | L>M | No | Ensembl | |
COSM975233 | 1696 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs151306433 | 1698 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
rs367611380 | 1698 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs151306433 | 1698 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
rs2072520031 | 1699 | T>S | No | gnomAD | |
rs2072520007 | 1701 | R>K | No | TOPMed | |
TCGA novel | 1702 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2142210136 | 1702 | G>S | No | Ensembl | |
rs1197917173 | 1704 | K>E | No | gnomAD | |
rs2072519884 | 1704 | K>N | No | gnomAD | |
rs1481277277 | 1705 | M>K | No | gnomAD | |
rs769268117 | 1706 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
rs1251252157 | 1706 | A>T | No | gnomAD | |
rs2072519745 COSM75519 |
1708 | Q>E | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated TOPMed gnomAD |
rs2072519717 | 1709 | E>Q | No | TOPMed | |
rs2072519670 | 1710 | L>F | No | Ensembl | |
rs2072519643 | 1711 | L>P | No | TOPMed | |
rs1314048277 | 1712 | D>N | No | gnomAD | |
rs761168807 | 1713 | A>G | No |
ExAC gnomAD |
|
COSM1470909 | 1713 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs761168807 | 1713 | A>V | No |
ExAC gnomAD |
|
rs2072519471 | 1714 | S>N | No | TOPMed | |
rs775912976 | 1714 | S>R | No |
ExAC gnomAD |
|
COSM1709833 | 1715 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1203572825 | 1715 | E>V | No |
TOPMed gnomAD |
|
COSM4968466 rs201824445 |
1716 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs201824445 | 1716 | R>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs746179757 | 1716 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed |
rs2072519236 | 1717 | V>G | No | TOPMed | |
rs2072519285 | 1717 | V>M | No | gnomAD | |
rs777509802 | 1718 | Q>* | No |
ExAC gnomAD |
|
rs2072519138 | 1719 | L>F | No | TOPMed | |
rs769299218 | 1719 | L>P | No | ExAC | |
rs535532477 | 1720 | L>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2072519030 | 1721 | H>D | No | Ensembl | |
rs1037000677 | 1722 | T>I | No |
TOPMed gnomAD |
|
rs1037000677 | 1722 | T>S | No |
TOPMed gnomAD |
|
rs2072518883 | 1723 | Q>R | No | gnomAD | |
rs1014671185 | 1724 | N>D | No |
TOPMed gnomAD |
|
rs1014671185 | 1724 | N>H | No |
TOPMed gnomAD |
|
rs768304822 | 1725 | T>I | No |
ExAC gnomAD |
|
rs746477254 | 1726 | S>C | No |
ExAC gnomAD |
|
rs1258845149 | 1726 | S>N | No | gnomAD | |
TCGA novel | 1727 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs780182993 | 1729 | N>S | No |
ExAC gnomAD |
|
TCGA novel | 1733 | K>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072499634 | 1733 | K>T | No | TOPMed | |
COSM2924865 | 1739 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1350185520 | 1739 | S>P | No |
TOPMed gnomAD |
|
rs1350185520 | 1739 | S>T | No |
TOPMed gnomAD |
|
rs758388587 | 1741 | I>V | No |
ExAC gnomAD |
|
COSM3513712 | 1742 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1234887649 | 1743 | G>R | No |
TOPMed gnomAD |
|
COSM1709832 | 1745 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs745717870 | 1745 | M>V | No |
ExAC TOPMed gnomAD |
|
rs1292600831 | 1746 | E>Q | No | gnomAD | |
rs2072499433 | 1747 | D>G | No | Ensembl | |
rs778571195 | 1747 | D>N | No |
ExAC TOPMed gnomAD |
|
rs2072499401 | 1748 | I>V | No | gnomAD | |
rs144889690 | 1749 | V>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs144889690 | 1749 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs144889690 | 1749 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM705160 rs2072499253 |
1750 | Q>H | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
rs1222602512 | 1751 | E>G | No | gnomAD | |
COSM3889226 | 1751 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs764324287 | 1752 | A>D | No |
ExAC TOPMed gnomAD |
|
rs764324287 | 1752 | A>V | No |
ExAC TOPMed gnomAD |
|
rs554011504 | 1753 | R>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs187295127 COSM1216224 |
1753 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs187295127 | 1753 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1493786 | 1756 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs2072499024 | 1756 | E>V | No | TOPMed | |
rs879153244 | 1757 | E>D | No | TOPMed | |
COSM975232 rs1418977431 |
1759 | A>G | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
COSM3513711 | 1760 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM975231 | 1760 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs760021950 | 1764 | T>I | No |
ExAC TOPMed gnomAD |
|
rs960560117 | 1767 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
rs1422252304 | 1767 | A>V | No | gnomAD | |
rs866491133 | 1768 | M>I | No | Ensembl | |
rs756303222 | 1768 | M>R | No |
ExAC TOPMed gnomAD |
|
rs756303222 | 1768 | M>T | No |
ExAC TOPMed gnomAD |
|
rs2072497711 | 1768 | M>V | No | Ensembl | |
rs752831590 | 1769 | M>R | No |
ExAC gnomAD |
|
rs752831590 | 1769 | M>T | No |
ExAC gnomAD |
|
rs2072497573 | 1770 | A>T | No | Ensembl | |
rs1278247190 | 1772 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
rs1195789404 | 1773 | L>P | No | gnomAD | |
rs767578206 | 1774 | K>Q | No |
ExAC TOPMed gnomAD |
|
rs752019463 | 1777 | Q>E | No |
ExAC TOPMed gnomAD |
|
rs752019463 | 1777 | Q>K | No |
ExAC TOPMed gnomAD |
|
rs766870001 | 1778 | D>N | No |
ExAC gnomAD |
|
rs1015196587 | 1779 | T>S | No | TOPMed | |
TCGA novel | 1780 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs763267052 | 1781 | A>S | No |
ExAC TOPMed gnomAD |
|
rs763267052 COSM283026 |
1781 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs2072497108 | 1781 | A>V | No | TOPMed | |
rs2072497080 COSM705162 |
1782 | H>Y | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
rs146221622 | 1785 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
rs146221622 | 1785 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
rs1234619394 | 1785 | R>W | No |
TOPMed gnomAD |
|
rs375718466 | 1786 | M>T | No |
ESP TOPMed gnomAD |
|
rs1597413472 | 1789 | N>D | No | Ensembl | |
rs760403113 | 1790 | M>K | No |
ExAC gnomAD |
|
rs760403113 | 1790 | M>T | No |
ExAC gnomAD |
|
rs1444167278 | 1790 | M>V | No |
TOPMed gnomAD |
|
rs775219097 | 1791 | E>Q | No |
ExAC gnomAD |
|
rs2072496515 | 1794 | V>E | No | TOPMed | |
rs759041439 | 1794 | V>M | No |
ExAC TOPMed gnomAD |
|
rs2072496431 | 1795 | K>N | No | gnomAD | |
rs75173310 | 1795 | K>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs75173310 RCV000898761 |
1795 | K>T | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1454917061 | 1796 | D>N | No | gnomAD | |
TCGA novel | 1796 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1394719435 | 1797 | L>M | No |
TOPMed gnomAD |
|
rs1191914036 | 1797 | L>R | No | gnomAD | |
rs1394719435 | 1797 | L>V | No |
TOPMed gnomAD |
|
rs749083591 | 1799 | L>F | No |
ExAC TOPMed gnomAD |
|
rs770067160 COSM2924858 |
1800 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs139900511 COSM975229 |
1800 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs2277649 | 1802 | D>A | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
VAR_030202 rs2277649 RCV001608700 |
1802 | D>G | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1646702673 | 1802 | D>H | No | TOPMed | |
rs2277649 | 1802 | D>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs751627870 | 1803 | E>G | No |
ExAC TOPMed gnomAD |
|
rs1346442868 COSM349271 |
1803 | E>K | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
rs2072495780 | 1804 | A>T | No | Ensembl | |
rs780476111 | 1804 | A>V | No |
ExAC TOPMed gnomAD |
|
rs2072495693 | 1805 | E>A | No | TOPMed | |
COSM3513709 | 1805 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1280476018 | 1806 | Q>K | No | gnomAD | |
rs200732393 | 1808 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs200732393 | 1808 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1480463853 | 1809 | L>M | No | gnomAD | |
rs762214845 | 1809 | L>P | No |
ExAC TOPMed gnomAD |
|
rs2072495292 | 1810 | K>E | No | TOPMed | |
rs1463556470 | 1811 | G>S | No |
TOPMed gnomAD |
|
COSM3513708 | 1816 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs759003357 | 1817 | Q>* | No |
ExAC gnomAD |
|
rs773887491 | 1821 | A>T | No |
ExAC gnomAD |
|
rs370263974 | 1822 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
rs773065772 | 1822 | R>S | No |
ExAC gnomAD |
|
rs1567697453 | 1822 | R>T | No | Ensembl | |
rs1187753773 | 1823 | V>A | No | gnomAD | |
rs762312209 | 1824 | R>* | No |
ExAC TOPMed gnomAD |
|
rs2072493404 | 1824 | R>K | No | TOPMed | |
rs1309927142 | 1825 | E>Q | No |
TOPMed gnomAD |
|
TCGA novel | 1827 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs773154000 | 1827 | E>K | No |
ExAC gnomAD |
|
rs773154000 | 1827 | E>Q | No |
ExAC gnomAD |
|
rs2072493250 | 1829 | E>K | No |
TOPMed gnomAD |
|
rs1178036460 | 1830 | V>M | No |
TOPMed gnomAD |
|
rs267604703 | 1831 | E>K | No | Ensembl | |
rs1372203128 | 1832 | S>G | No |
TOPMed gnomAD |
|
rs1306670937 | 1832 | S>T | No |
TOPMed gnomAD |
|
rs761645152 | 1833 | E>K | No |
ExAC TOPMed gnomAD |
|
rs1597413301 | 1834 | Q>E | No | Ensembl | |
COSM6080164 | 1834 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1234484676 | 1836 | H>L | No | gnomAD | |
rs1234484676 | 1836 | H>R | No | gnomAD | |
rs776399558 | 1837 | N>S | No |
ExAC gnomAD |
|
rs1310742022 | 1838 | V>A | No | gnomAD | |
rs1216414670 | 1839 | E>K | No | gnomAD | |
rs1401496099 | 1842 | K>E | No |
TOPMed gnomAD |
|
rs893951001 | 1843 | G>D | No | Ensembl | |
COSM3513706 | 1843 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs61521510 | 1845 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs185824725 | 1845 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
rs935396215 | 1846 | K>Q | No | Ensembl | |
rs1360954782 | 1847 | H>R | No |
TOPMed gnomAD |
|
TCGA novel rs1319386839 |
1848 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
TOPMed gnomAD NCI-TCGA |
COSM4398799 | 1848 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1567697370 | 1848 | E>Q | No | gnomAD | |
rs2072492458 | 1849 | R>K | No | TOPMed | |
TCGA novel | 1850 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs2072492422 | 1850 | R>T | No |
TOPMed gnomAD |
|
rs2072492360 | 1851 | V>A | No | TOPMed | |
rs2072492390 | 1851 | V>L | No | Ensembl | |
rs2072492328 | 1852 | K>Q | No | gnomAD | |
rs2072492303 | 1852 | K>T | No | TOPMed | |
TCGA novel | 1853 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3513705 | 1853 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs772220551 | 1854 | L>P | No |
ExAC gnomAD |
|
rs2072492154 | 1856 | Y>* | No | Ensembl | |
rs1340510443 | 1857 | Q>* | No |
TOPMed gnomAD |
|
rs1340510443 | 1857 | Q>E | No |
TOPMed gnomAD |
|
rs973277465 | 1859 | E>K | No | Ensembl | |
rs760340692 | 1859 | E>V | No |
ExAC gnomAD |
|
rs1299839445 | 1860 | E>* | No | gnomAD | |
rs775815764 | 1860 | E>D | No |
ExAC gnomAD |
|
rs1173535774 | 1861 | D>N | No | TOPMed | |
rs34260986 VAR_056175 COSM269664 |
1862 | R>C | large_intestine [Cosmic] | No |
cosmic curated UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
rs538270849 | 1862 | R>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs538270849 | 1862 | R>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs34260986 | 1862 | R>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs2072490809 | 1865 | I>V | No |
TOPMed gnomAD |
|
COSM139048 rs567649730 |
1866 | L>F | lung skin [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
rs1398730327 | 1867 | R>K | No |
TOPMed gnomAD |
|
rs1192544779 | 1869 | Q>* | No | gnomAD | |
rs778082635 | 1869 | Q>H | No |
ExAC TOPMed gnomAD |
|
rs1265643979 | 1870 | D>E | No | gnomAD | |
TCGA novel | 1871 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1283369286 | 1872 | V>L | No |
TOPMed gnomAD |
|
rs1283369286 | 1872 | V>M | No |
TOPMed gnomAD |
|
rs138375236 | 1873 | D>G | No | ESP | |
rs1481226600 | 1874 | K>E | No | gnomAD | |
rs2072490410 | 1875 | L>S | No | Ensembl | |
rs752626141 | 1876 | Q>* | No |
ExAC TOPMed gnomAD |
|
TCGA novel | 1876 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1350064593 | 1877 | T>A | No | gnomAD | |
rs779806757 | 1877 | T>I | No |
ExAC TOPMed gnomAD |
|
rs1597413139 | 1878 | K>E | No | Ensembl | |
rs1567697238 | 1881 | A>D | No | Ensembl | |
rs1233781652 | 1881 | A>T | No |
TOPMed gnomAD |
|
rs2072490106 | 1882 | Y>H | No | gnomAD | |
rs2072490074 | 1882 | Y>S | No |
TOPMed gnomAD |
|
rs1391963523 | 1883 | K>E | No | gnomAD | |
rs2142207033 | 1883 | K>R | No | Ensembl | |
rs750003926 | 1884 | R>G | No |
ExAC gnomAD |
|
rs764733561 | 1885 | Q>* | No |
ExAC gnomAD |
|
rs2072489956 | 1888 | E>K | No |
TOPMed gnomAD |
|
rs147055554 | 1889 | A>V | No |
ESP TOPMed gnomAD |
|
COSM6145640 | 1890 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs770169869 | 1890 | E>K | No |
ExAC gnomAD |
|
rs878940178 | 1891 | E>* | No | Ensembl | |
rs748603493 | 1893 | S>T | No |
ExAC TOPMed gnomAD |
|
rs2072479448 | 1893 | S>Y | No |
TOPMed gnomAD |
|
rs781406872 | 1894 | N>D | No |
ExAC gnomAD |
|
rs1026248729 | 1894 | N>I | No |
TOPMed gnomAD |
|
rs563076885 | 1894 | N>K | No |
1000Genomes ExAC gnomAD |
|
rs1026248729 | 1894 | N>S | No |
TOPMed gnomAD |
|
rs1303482689 | 1895 | V>A | No |
TOPMed gnomAD |
|
rs199767036 | 1896 | N>K | No | Ensembl | |
COSM705163 | 1896 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 1897 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs997400770 | 1898 | A>D | No | TOPMed | |
rs997400770 | 1898 | A>G | No | TOPMed | |
rs745534450 | 1898 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
COSM71743 rs1476455445 |
1899 | K>N | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated TOPMed gnomAD NCI-TCGA Cosmic NCI-TCGA |
rs141666536 | 1901 | R>C | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM180568 rs201770076 |
1901 | R>H | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
rs201770076 | 1901 | R>L | No |
ExAC TOPMed gnomAD |
|
rs201770076 | 1901 | R>P | No |
ExAC TOPMed gnomAD |
|
rs2142205834 | 1903 | L>I | No | Ensembl | |
COSM398725 | 1903 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs777818940 | 1904 | Q>* | No |
ExAC TOPMed gnomAD |
|
rs2072478820 | 1904 | Q>H | No | TOPMed | |
rs777818940 | 1904 | Q>K | No |
ExAC TOPMed gnomAD |
|
rs866353566 | 1906 | E>G | No | Ensembl | |
rs138871618 | 1906 | E>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1054593429 | 1908 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
TCGA novel | 1908 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM3513704 | 1909 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs540648325 | 1910 | A>T | No |
1000Genomes gnomAD |
|
rs3744554 | 1911 | K>* | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs3744554 VAR_024542 |
1911 | K>E | No |
UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2142205789 | 1911 | K>N | No | Ensembl | |
rs3744554 | 1911 | K>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs151125083 | 1913 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
rs141091743 | 1913 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
rs773152715 | 1915 | D>E | No |
ExAC gnomAD |
|
rs745984767 | 1916 | I>M | No |
ExAC TOPMed gnomAD |
|
rs2072478244 | 1916 | I>V | No | Ensembl | |
rs200121757 | 1919 | S>Y | No |
TOPMed gnomAD |
|
rs371108016 | 1921 | V>F | No |
ESP TOPMed gnomAD |
|
rs371108016 | 1921 | V>I | No |
ESP TOPMed gnomAD |
|
rs371108016 | 1921 | V>L | No |
ESP TOPMed gnomAD |
|
rs1471868347 | 1922 | N>K | No |
TOPMed gnomAD |
|
rs762232645 | 1922 | N>S | No |
ExAC gnomAD |
|
rs778567529 | 1923 | K>N | No | Ensembl | |
rs777066228 | 1924 | L>M | No |
ExAC TOPMed gnomAD |
|
rs2072477784 | 1925 | R>G | No | TOPMed | |
rs1449053355 | 1925 | R>K | No | gnomAD | |
rs1246034268 | 1926 | V>A | No | gnomAD | |
COSM3513703 rs778580924 |
1929 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA |
rs538556644 | 1929 | R>W | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2072477486 | 1930 | E>* | No | Ensembl | |
rs200789249 | 1934 | K>E | No | 1000Genomes | |
COSM4063813 | 1934 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs535914239 | 1935 | V>A | No |
ExAC TOPMed gnomAD |
|
rs535914239 | 1935 | V>D | No |
ExAC TOPMed gnomAD |
|
rs748883182 | 1935 | V>I | No |
ExAC TOPMed gnomAD |
|
rs748883182 | 1935 | V>L | No |
ExAC TOPMed gnomAD |
|
rs781224206 | 1936 | I>K | No |
ExAC TOPMed gnomAD |
|
rs571163808 | 1936 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
rs2072477141 | 1937 | S>N | No | Ensembl | |
rs1421864584 | 1939 | E>D | No | gnomAD | |
rs1223634911 | 1940 | E>Q | No |
TOPMed gnomAD |
No associated diseases with Q9Y623
6 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
muscle myosin complex | A filament of myosin found in a muscle cell of any type. |
myofibril | The contractile element of skeletal and cardiac muscle; a long, highly organized bundle of actin, myosin, and other proteins that contracts by a sliding filament mechanism. |
myosin filament | A supramolecular fiber containing myosin heavy chains, plus associated light chains and other proteins, in which the myosin heavy chains are arranged into a filament. |
myosin II complex | A myosin complex containing two class II myosin heavy chains, two myosin essential light chains and two myosin regulatory light chains. Also known as classical myosin or conventional myosin, the myosin II class includes the major muscle myosin of vertebrate and invertebrate muscle, and is characterized by alpha-helical coiled coil tails that self assemble to form a variety of filament structures. |
sarcomere | The repeating unit of a myofibril in a muscle cell, composed of an array of overlapping thick and thin filaments between two adjacent Z discs. |
6 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. |
ATP hydrolysis activity | Catalysis of the reaction |
calmodulin binding | Binding to calmodulin, a calcium-binding protein with many roles, both in the calcium-bound and calcium-free states. |
double-stranded RNA binding | Binding to double-stranded RNA. |
microfilament motor activity | A motor activity that generates movement along a microfilament, driven by ATP hydrolysis. |
4 GO annotations of biological process
Name | Definition |
---|---|
actin filament-based movement | Movement of organelles or other particles along actin filaments, or sliding of actin filaments past each other, mediated by motor proteins. |
ATP metabolic process | The chemical reactions and pathways involving ATP, adenosine triphosphate, a universally important coenzyme and enzyme regulator. |
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. |
muscle filament sliding | The sliding of actin thin filaments and myosin thick filaments past each other in muscle contraction. This involves a process of interaction of myosin located on a thick filament with actin located on a thin filament. During this process ATP is split and forces are generated. |
46 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
Q9BE40 | MYH1 | Myosin-1 | Bos taurus (Bovine) | SS |
Q9BE41 | MYH2 | Myosin-2 | Bos taurus (Bovine) | SS |
Q27991 | MYH10 | Myosin-10 | Bos taurus (Bovine) | SS |
Q9BE39 | MYH7 | Myosin-7 | Bos taurus (Bovine) | SS |
P10587 | MYH11 | Myosin-11 | Gallus gallus (Chicken) | SS |
P14105 | MYH9 | Myosin-9 | Gallus gallus (Chicken) | SS |
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 |
P12882 | MYH1 | Myosin-1 | Homo sapiens (Human) | SS |
P12883 | MYH7 | Myosin-7 | Homo sapiens (Human) | EV |
P13533 | MYH6 | Myosin-6 | Homo sapiens (Human) | SS |
P13535 | MYH8 | Myosin-8 | Homo sapiens (Human) | SS |
Q9UKX3 | MYH13 | Myosin-13 | Homo sapiens (Human) | SS |
Q9Y2K3 | MYH15 | Myosin-15 | 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 |
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 |
Q5SX39 | Myh4 | Myosin-4 | 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 |
Q9JLT0 | Myh10 | Myosin-10 | Rattus norvegicus (Rat) | SS |
Q29RW1 | Myh4 | Myosin-4 | 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 | EKERIEAQNK | PFDAKTSVFV | VDPKESYVKA | IVQSREGGKV |
70 | 80 | 90 | 100 | 110 | 120 |
TAKTEAGATV | TVKEDQVFSM | NPPKYDKIED | MAMMTHLHEP | AVLYNLKERY | AAWMIYTYSG |
130 | 140 | 150 | 160 | 170 | 180 |
LFCVTVNPYK | WLPVYNPEVV | TAYRGKKRQE | APPHIFSISD | NAYQFMLTDR | ENQSILITGE |
190 | 200 | 210 | 220 | 230 | 240 |
SGAGKTVNTK | RVIQYFATIA | VTGEKKKEEP | ASGKMQGTLE | DQIISANPLL | EAFGNAKTVR |
250 | 260 | 270 | 280 | 290 | 300 |
NDNSSRFGKF | IRIHFGATGK | LASADIETYL | LEKSRVTFQL | KAERSYHIFY | QILSNKKPEL |
310 | 320 | 330 | 340 | 350 | 360 |
IEMLLITTNP | YDFAFVSQGE | ITVPSIDDQE | ELMATDSAVD | ILGFTADEKV | AIYKLTGAVM |
370 | 380 | 390 | 400 | 410 | 420 |
HYGNMKFKQK | QREEQAEPDG | TEVADKAAYL | TSLNSADLLK | SLCYPRVKVG | NEFVTKGQTV |
430 | 440 | 450 | 460 | 470 | 480 |
QQVYNAVGAL | AKAIYEKMFL | WMVTRINQQL | DTKQPRQYFI | GVLDIAGFEI | FDFNSLEQLC |
490 | 500 | 510 | 520 | 530 | 540 |
INFTNEKLQQ | FFNHHMFVLE | QEEYKKEGIE | WEFIDFGMDL | AACIELIEKP | MGIFSILEEE |
550 | 560 | 570 | 580 | 590 | 600 |
CMFPKATDTS | FKNKLYEQHL | GKSNNFQKPK | PAKGKPEAHF | SLVHYAGTVD | YNIAGWLDKN |
610 | 620 | 630 | 640 | 650 | 660 |
KDPLNETVVG | LYQKSAMKTL | AFLFSGAQTA | EAEGGGGKKG | GKKKGSSFQT | VSALFRENLN |
670 | 680 | 690 | 700 | 710 | 720 |
KLMTNLRSTH | PHFVRCIIPN | ETKTPGAMEH | ELVLHQLRCN | GVLEGIRICR | KGFPSRILYA |
730 | 740 | 750 | 760 | 770 | 780 |
DFKQRYKVLN | ASAIPEGQFI | DSKKASEKLL | GSIEIDHTQY | KFGHTKVFFK | AGLLGTLEEM |
790 | 800 | 810 | 820 | 830 | 840 |
RDEKLAQLIT | RTQAICRGFL | MRVEFRKMME | RRESIFCIQY | NIRAFMNVKH | WPWMKLYFKI |
850 | 860 | 870 | 880 | 890 | 900 |
KPLLKSAETE | KEMANMKEEF | EKTKEELAKT | EAKRKELEEK | MVTLMQEKND | LQLQVQAEAD |
910 | 920 | 930 | 940 | 950 | 960 |
ALADAEERCD | QLIKTKIQLE | AKIKEVTERA | EDEEEINAEL | TAKKRKLEDE | CSELKKDIDD |
970 | 980 | 990 | 1000 | 1010 | 1020 |
LELTLAKVEK | EKHATENKVK | NLTEEMAGLD | ETIAKLTKEK | KALQEAHQQT | LDDLQMEEDK |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
VNTLTKAKTK | LEQQVDDLEG | SLEQEKKLCM | DLERAKRKLE | GDLKLAQEST | MDTENDKQQL |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
NEKLKKKEFE | MSNLQGKIED | EQALAIQLQK | KIKELQARIE | ELEEEIEAER | ASRAKAEKQR |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
SDLSRELEEI | SERLEEAGGA | TSAQIEMNKK | REAEFQKMRR | DLEESTLQHE | ATAAALRKKH |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
ADSVAELGEQ | IDSLQRVKQK | LEKEKSELKM | EINDLASNME | TVSKAKANFE | KMCRTLEDQL |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
SEIKTKEEEQ | QRLINELSAQ | KARLHTESGE | FSRQLDEKDA | MVSQLSRGKQ | AFTQQIEELK |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
RQLEEETKAK | STLAHALQSA | RHDCDLLREQ | YEEEQEAKAE | LQRGMSKANS | EVAQWRTKYE |
1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
TDAIQRTEEL | EEAKKKLAQR | LQDAEEHVEA | VNSKCASLEK | TKQRLQNEVE | DLMIDVERSN |
1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
AACIALDKKQ | RNFDKVLAEW | KQKYEETQAE | LEASQKESRS | LSTELFKVKN | AYEESLDHLE |
1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
TLKRENKNLQ | QEISDLTEQI | AEGGKHIHEL | EKVKKQLDHE | KSELQTSLEE | AEASLEHEEG |
1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
KILRIQLELN | QVKSEIDRKI | AEKDEELDQL | KRNHLRVVES | MQSTLDAEIR | SRNDALRIKK |
1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
KMEGDLNEME | IQLNHANRQA | AEALRNLRNT | QGILKDTQLH | LDDAIRGQDD | LKEQLAMVER |
1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
RANLMQAEVE | ELRASLERTE | RGRKMAEQEL | LDASERVQLL | HTQNTSLINT | KKKLETDISQ |
1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
IQGEMEDIVQ | EARNAEEKAK | KAITDAAMMA | EELKKEQDTS | AHLERMKKNM | EQTVKDLQLR |
1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
LDEAEQLALK | GGKKQIQKLE | ARVRELESEV | ESEQKHNVEA | VKGLRKHERR | VKELTYQTEE |
1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
DRKNILRLQD | LVDKLQTKVK | AYKRQAEEAE | EQSNVNLAKF | RKLQHELEEA | KERADIAESQ |
1930 | |||||
VNKLRVKSRE | VHTKVISEE |