Q32MK0
SS
Gene name |
MYLK3 (MLCK) |
Protein name |
Myosin light chain kinase 3 |
Names |
EC 2.7.11.18 , Cardiac-MyBP-C-associated Ca/CaM kinase , Cardiac-MLCK |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:91807 |
EC number |
2.7.11.18: Protein-serine/threonine kinases |
Protein Class |
|
Descriptions
Myosin light chain kinases (MLCK) are members of the family of Ca2+-calmodulin-dependent protein kinases. This enzyme contains an autoinhibitory pseudosubstrate sequence that blocks the substrate-binding site of the kinase. The autoinhibitory sequence makes an extensive network of contacts on the surface of the larger C-domain of the catalytic core extending towards the catalytic cleft with the CaM-binding sequence to block the regulatory light chain of sarcomeric myosin, but not ATP binding in the catalytic core N-domain.
Autoinhibitory domains (AIDs)
Target domain |
515-770 (Protein kinase domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
655-677 (Activation loop from InterPro)
Target domain |
515-770 (Protein kinase domain) |
Relief mechanism |
|
Assay |
|
Autoinhibited structure
Activated structure
1 structures for Q32MK0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q32MK0-F1 | Predicted | AlphaFoldDB |
989 variants for Q32MK0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002130181 RCV003053435 rs561120067 |
55 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001930518 rs200653944 RCV003264256 COSM240798 |
62 | R>W | prostate Inborn genetic diseases [Cosmic, ClinVar] | Yes |
cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001981821 rs946842525 RCV002560722 |
112 | E>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs770673174 RCV001878414 RCV003346721 |
190 | E>D | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002140464 RCV003081022 rs558671219 |
339 | I>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs1212134576 RCV002592657 RCV001988953 |
384 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
RCV002555363 RCV001901674 rs761650400 |
402 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs371075122 RCV002557883 RCV001943712 |
464 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001900254 RCV002551681 rs140600416 |
485 | V>M | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs750123468 RCV002557608 RCV001918416 |
491 | P>T | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs541334771 RCV003289398 RCV002027497 |
514 | E>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001966371 RCV002571210 rs752995937 |
560 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs770495897 RCV002556337 RCV001943282 |
622 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002550492 rs200515683 RCV002031825 |
724 | I>T | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs758782017 RCV003289282 RCV001941453 |
726 | N>H | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs755058936 RCV003355758 RCV002022828 |
729 | W>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs201767714 RCV001979032 RCV003170055 |
735 | T>I | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs780099005 RCV003269117 RCV002038996 |
783 | R>H | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001912462 rs1967064640 |
1 | M>K | No |
ClinVar dbSNP |
|
|
rs2143017267 RCV001936594 |
1 | M>V | No |
ClinVar dbSNP |
|
| TCGA novel | 2 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001884181 rs2143017264 |
2 | S>L | No |
ClinVar Ensembl dbSNP |
|
| rs750343120 | 4 | T>I | No |
ExAC gnomAD |
|
| rs2143017263 | 6 | K>E | No | Ensembl | |
| rs1446182464 | 8 | S>G | No | gnomAD | |
| rs1377897920 | 8 | S>T | No | gnomAD | |
| rs1007600013 | 9 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1029130878 | 10 | G>W | No | Ensembl | |
| rs1967064148 | 11 | H>Y | No | TOPMed | |
| rs200577835 | 12 | G>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs767442167 | 12 | G>R | No |
ExAC gnomAD |
|
| rs1596774702 | 13 | G>R | No | Ensembl | |
| rs1967063866 | 13 | G>V | No | Ensembl | |
| rs757984889 | 18 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
COSM970787 COSM970788 |
19 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1967063437 | 19 | K>Q | No | TOPMed | |
| rs2143017249 | 20 | T>A | No | Ensembl | |
| TCGA novel | 20 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1157499343 | 22 | L>S | No | gnomAD | |
| rs759025389 | 25 | M>I | No |
ExAC gnomAD |
|
| rs769194956 | 25 | M>R | No |
ExAC TOPMed gnomAD |
|
| rs769194956 | 25 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs754220621 | 25 | M>V | No | gnomAD | |
| rs773611079 | 27 | T>I | No |
ExAC gnomAD |
|
| rs773611079 | 27 | T>K | No |
ExAC gnomAD |
|
| rs144608975 | 28 | K>* | No |
ESP TOPMed gnomAD |
|
|
RCV002003766 rs144608975 |
28 | K>Q | No |
ClinVar ESP TOPMed dbSNP gnomAD |
|
| rs1178414787 | 29 | L>P | No | TOPMed | |
| rs1212098957 | 29 | L>V | No | gnomAD | |
| rs1352971248 | 31 | M>L | No | Ensembl | |
| rs1461721522 | 32 | L>R | No | TOPMed | |
|
rs116998681 COSM3509716 COSM3509717 |
33 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC TOPMed gnomAD NCI-TCGA Cosmic |
| rs1285280741 | 33 | N>T | No | gnomAD | |
|
COSM3509714 RCV001961562 rs779225675 COSM3509715 |
34 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs779225675 | 34 | E>Q | No |
ExAC TOPMed gnomAD |
|
|
rs201903569 RCV001946337 |
35 | K>E | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs749505754 | 36 | V>M | No |
ExAC gnomAD |
|
| rs1283228129 | 37 | D>E | No |
TOPMed gnomAD |
|
| rs1596774588 | 38 | Q>K | No | Ensembl | |
| rs750476708 | 41 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs757200895 | 43 | Q>P | No |
ExAC TOPMed |
|
| rs1967061397 | 45 | D>E | No | gnomAD | |
| rs1967061457 | 45 | D>V | No | TOPMed | |
| rs751462600 | 45 | D>Y | No |
ExAC gnomAD |
|
| rs1161226880 | 51 | Q>H | No | gnomAD | |
|
TCGA novel rs1967061247 |
52 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1183737871 | 54 | C>* | No | gnomAD | |
|
RCV002045103 rs763980129 COSM379098 |
55 | R>* | lung [Cosmic] | No |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001973511 rs561120067 |
55 | R>P | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1967060986 | 56 | D>H | No | TOPMed | |
| TCGA novel | 56 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1967060823 | 57 | M>T | No | gnomAD | |
| rs1183355869 | 57 | M>V | No | gnomAD | |
|
RCV001942570 rs764891090 |
58 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1275051526 RCV001879297 |
59 | H>Q | No |
ClinVar TOPMed dbSNP |
|
| rs758996855 | 60 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
|
RCV002010427 rs1049338903 |
61 | E>* | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs762293646 | 62 | R>P | No |
ExAC TOPMed gnomAD |
|
|
rs762293646 RCV001904056 |
62 | R>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1967060259 | 63 | G>S | No | Ensembl | |
| rs1313770426 | 64 | L>P | No | gnomAD | |
| rs1967060125 | 65 | H>Q | No | gnomAD | |
| rs1230378296 | 66 | R>S | No |
TOPMed gnomAD |
|
| rs1360314349 | 68 | E>A | No | gnomAD | |
|
rs990007731 RCV002000366 |
69 | A>D | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs990007731 | 69 | A>G | No |
TOPMed gnomAD |
|
|
rs376169087 RCV002017808 |
69 | A>T | No |
ClinVar ESP TOPMed dbSNP gnomAD |
|
| rs916614885 | 70 | S>C | No |
TOPMed gnomAD |
|
| rs916614885 | 70 | S>F | No |
TOPMed gnomAD |
|
|
rs9923813 VAR_058335 |
70 | S>T | No |
UniProt dbSNP gnomAD |
|
| rs916614885 | 70 | S>Y | No |
TOPMed gnomAD |
|
| rs749607925 | 71 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs780172365 | 71 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs780172365 | 71 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
rs749607925 RCV001944843 |
71 | R>W | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV002018139 rs762204483 |
73 | P>missing | No |
ClinVar dbSNP |
|
|
rs570403495 RCV002219788 |
73 | P>L | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1596774447 | 74 | G>V | No | Ensembl | |
|
rs151009173 RCV001936353 |
75 | P>L | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM471737 COSM471738 rs143624767 RCV001934799 |
77 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar 1000Genomes ESP NCI-TCGA TOPMed dbSNP gnomAD |
| rs143624767 | 77 | G>W | No |
1000Genomes ESP TOPMed gnomAD |
|
| rs1194236895 | 78 | A>T | No | gnomAD | |
| rs758287896 | 79 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs2143017212 | 80 | G>E | No | Ensembl | |
| rs2143017213 | 80 | G>R | No | Ensembl | |
| rs1051486593 | 81 | V>G | No | Ensembl | |
|
rs2143017211 RCV002045824 |
81 | V>I | No |
ClinVar Ensembl dbSNP |
|
|
COSM3509706 COSM3509707 |
82 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1567292113 | 83 | H>R | No | Ensembl | |
| rs898051564 | 84 | I>T | No |
TOPMed gnomAD |
|
|
RCV002026202 rs2143017208 |
87 | Q>P | No |
ClinVar Ensembl dbSNP |
|
| rs1316393679 | 88 | A>D | No |
TOPMed gnomAD |
|
| rs1316393679 | 88 | A>V | No |
TOPMed gnomAD |
|
| rs764833252 | 89 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs753345905 | 91 | P>A | No |
ExAC gnomAD |
|
| rs760109799 | 92 | E>K | No |
ExAC gnomAD |
|
| rs1596774356 | 93 | V>F | No | Ensembl | |
| rs774862265 | 94 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs1294864043 | 95 | E>K | No |
TOPMed gnomAD |
|
| rs1475138061 | 96 | L>Q | No |
TOPMed gnomAD |
|
| rs764546022 | 97 | V>G | No |
ExAC gnomAD |
|
| rs1460174494 | 97 | V>L | No | gnomAD | |
| rs1460174494 | 97 | V>M | No | gnomAD | |
| rs1967057515 | 98 | R>K | No | TOPMed | |
| rs763348735 | 98 | R>S | No |
ExAC gnomAD |
|
| rs1596774315 | 99 | A>D | No | Ensembl | |
| rs1189389701 | 99 | A>S | No | TOPMed | |
| rs1189389701 | 99 | A>T | No | TOPMed | |
| rs1392261037 | 100 | M>T | No | TOPMed | |
| rs1467037214 | 101 | Q>* | No | gnomAD | |
|
rs1467037214 RCV001899535 |
101 | Q>K | No |
ClinVar dbSNP gnomAD |
|
|
COSM1324436 COSM1324437 |
101 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1427102755 | 101 | Q>R | No | gnomAD | |
|
rs775901507 RCV001947970 |
102 | Q>P | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1432604033 | 103 | D>Y | No | gnomAD | |
| rs148872608 | 104 | A>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs148872608 | 104 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001917565 rs148872608 |
104 | A>V | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1456584642 | 105 | A>T | No | gnomAD | |
|
RCV002148656 rs544503447 |
105 | A>V | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1407548687 | 107 | H>L | No | Ensembl | |
| rs1567292068 | 107 | H>Y | No | Ensembl | |
| rs1433738159 | 108 | G>D | No |
TOPMed gnomAD |
|
| rs747034841 | 108 | G>R | No |
ExAC TOPMed gnomAD |
|
|
RCV002030007 rs747034841 |
108 | G>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1433738159 | 108 | G>V | No |
TOPMed gnomAD |
|
|
RCV001912335 rs2143017188 |
110 | R>S | No |
ClinVar Ensembl dbSNP |
|
| rs758375897 | 113 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs758375897 | 113 | A>G | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 113 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1283347771 | 115 | F>V | No |
TOPMed gnomAD |
|
| rs778755858 | 116 | R>K | No |
ExAC TOPMed gnomAD |
|
| rs754652992 | 116 | R>S | No |
ExAC gnomAD |
|
| rs778755858 | 116 | R>T | No |
ExAC TOPMed gnomAD |
|
|
rs2143017185 RCV001905245 |
117 | M>missing | No |
ClinVar dbSNP |
|
|
COSM2920912 COSM2920913 |
117 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs753532294 | 120 | A>T | No |
ExAC gnomAD |
|
| rs765956381 | 120 | A>V | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 121 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1596774212 | 121 | V>G | No | Ensembl | |
| rs1967055624 | 122 | D>H | No | TOPMed | |
|
RCV001993533 rs965818049 |
123 | R>G | No |
ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 123 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1967055456 | 124 | A>D | No |
TOPMed gnomAD |
|
|
COSM970786 RCV002043045 rs147831842 COSM970785 |
124 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar ESP NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002001200 rs548322095 |
126 | A>T | No |
ClinVar TOPMed dbSNP |
|
| rs1967055272 | 126 | A>V | No | TOPMed | |
| rs1261033861 | 130 | A>S | No | gnomAD | |
| rs1261033861 | 130 | A>T | No | gnomAD | |
| rs1967055171 | 131 | T>A | No |
TOPMed gnomAD |
|
|
rs565297078 RCV002026358 |
131 | T>K | No |
ClinVar 1000Genomes dbSNP gnomAD |
|
|
rs565297078 RCV001965127 |
131 | T>M | No |
ClinVar 1000Genomes dbSNP gnomAD |
|
| rs565297078 | 131 | T>R | No |
1000Genomes gnomAD |
|
| rs1596774191 | 132 | F>V | No | Ensembl | |
| rs1437966818 | 133 | Q>* | No | gnomAD | |
| rs1183266743 | 134 | K>I | No | TOPMed | |
| rs775787717 | 136 | K>N | No |
ExAC gnomAD |
|
| rs1967054677 | 137 | V>G | No | TOPMed | |
| rs200646785 | 137 | V>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs200646785 | 137 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs956723382 | 138 | A>E | No |
TOPMed gnomAD |
|
|
rs956723382 RCV001937043 |
138 | A>V | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1049767193 | 139 | D>G | No | Ensembl | |
| rs1200348016 | 139 | D>Y | No | gnomAD | |
| rs1369361207 | 141 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs747122939 | 142 | M>I | No |
ExAC gnomAD |
|
| rs776936870 | 142 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs1473994766 | 142 | M>T | No | TOPMed | |
| rs776936870 | 142 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs139998755 | 143 | Q>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs748112632 | 144 | G>A | No |
ExAC gnomAD |
|
|
COSM557953 COSM557952 |
144 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001956653 rs778647098 COSM1377952 COSM1377953 |
145 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs748998633 | 145 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs748998633 | 145 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs778647098 | 145 | R>S | No |
ExAC TOPMed gnomAD |
|
|
RCV001889804 rs1333222341 |
146 | V>L | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1333222341 | 146 | V>M | No |
TOPMed gnomAD |
|
|
RCV002027142 rs2143017165 |
148 | W>C | No |
ClinVar Ensembl dbSNP |
|
| rs1159225947 | 149 | R>G | No |
TOPMed gnomAD |
|
| rs779724170 | 151 | G>S | No |
ExAC gnomAD |
|
| rs1967053658 | 152 | S>G | No | gnomAD | |
| rs755742409 | 152 | S>I | No |
ExAC TOPMed gnomAD |
|
|
rs755742409 RCV002016436 |
152 | S>N | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2143017160 | 153 | P>S | No | Ensembl | |
| rs1417866471 | 154 | G>C | No |
TOPMed gnomAD |
|
| rs147866459 | 154 | G>D | No | ESP | |
| rs1417866471 | 154 | G>R | No |
TOPMed gnomAD |
|
| rs1967053275 | 156 | S>G | No | Ensembl | |
| rs780679445 | 156 | S>R | No |
ExAC TOPMed gnomAD |
|
|
RCV002027498 rs2143017152 |
157 | P>A | No |
ClinVar Ensembl dbSNP |
|
| rs756659689 | 157 | P>H | No |
ExAC TOPMed gnomAD |
|
|
rs756659689 RCV002005770 |
157 | P>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV002026097 rs2143017152 |
157 | P>S | No |
ClinVar Ensembl dbSNP |
|
| rs753264453 | 158 | E>K | No | ExAC | |
| rs765616042 | 159 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1366983073 | 159 | E>G | No | gnomAD | |
| rs1441811049 | 159 | E>Q | No | gnomAD | |
| rs1217828937 | 160 | N>D | No | gnomAD | |
| rs551968898 | 161 | K>E | No |
1000Genomes ExAC gnomAD |
|
| rs1966905583 | 161 | K>N | No | Ensembl | |
| rs1966905630 | 161 | K>R | No | TOPMed | |
|
RCV001889202 rs1280084762 |
163 | R>* | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
rs1432975061 RCV001898843 |
163 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| rs1027878526 | 164 | V>L | No |
TOPMed gnomAD |
|
| rs1027878526 | 164 | V>M | No |
TOPMed gnomAD |
|
| rs1329426118 | 165 | E>G | No | gnomAD | |
| rs1966905188 | 167 | E>D | No | gnomAD | |
|
rs149773572 RCV001882914 |
167 | E>K | No |
ClinVar ESP TOPMed dbSNP gnomAD |
|
| rs1223180621 | 168 | G>E | No | Ensembl | |
|
RCV001931954 rs989672091 |
169 | G>E | No |
ClinVar dbSNP gnomAD |
|
| rs766842779 | 169 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs2143016148 | 170 | K>* | No | Ensembl | |
|
COSM3509702 COSM3509703 |
171 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750685624 | 172 | K>E | No |
ExAC gnomAD |
|
| rs1245646992 | 172 | K>M | No | gnomAD | |
| rs767585675 | 173 | H>D | No |
ExAC TOPMed gnomAD |
|
| rs767585675 | 173 | H>N | No |
ExAC TOPMed gnomAD |
|
| rs761994995 | 173 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs774275312 | 174 | V>G | No |
ExAC TOPMed gnomAD |
|
| rs771275894 | 174 | V>L | No | Ensembl | |
| rs1303988558 | 176 | S>G | No | TOPMed | |
| TCGA novel | 176 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1567289763 | 177 | T>A | No | Ensembl | |
|
rs1031103603 RCV002001347 |
178 | S>G | No |
ClinVar Ensembl dbSNP |
|
| rs775342997 | 178 | S>N | No |
ExAC gnomAD |
|
| rs1596768284 | 179 | G>E | No | Ensembl | |
|
RCV001963776 rs2143016144 |
180 | V>missing | No |
ClinVar dbSNP |
|
|
VAR_058336 rs28407821 RCV002124915 |
180 | V>L | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs28407821 | 180 | V>M | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1966904003 | 181 | Q>* | No | Ensembl | |
| TCGA novel | 182 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1206851201 | 183 | D>G | No |
TOPMed gnomAD |
|
| rs1206851201 | 183 | D>V | No |
TOPMed gnomAD |
|
|
rs55813660 RCV002013028 |
186 | E>Q | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 187 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV002049509 rs142022190 |
187 | P>T | No |
ClinVar ESP TOPMed dbSNP |
|
|
COSM3509701 COSM3509700 |
189 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1197313060 | 189 | E>V | No |
TOPMed gnomAD |
|
| rs867036347 | 190 | E>* | No | gnomAD | |
|
rs867036347 COSM1301981 |
190 | E>K | urinary_tract [Cosmic] | No |
cosmic curated gnomAD |
| rs2143015887 | 191 | S>N | No | Ensembl | |
| rs746633783 | 191 | S>R | No |
ExAC gnomAD |
|
| rs2143015882 | 193 | K>N | No | Ensembl | |
|
rs772851638 RCV001880542 |
194 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs375234190 | 195 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs780736850 | 196 | V>L | No |
ExAC TOPMed gnomAD |
|
|
RCV002013071 rs780736850 |
196 | V>M | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs774809223 | 198 | E>Q | No | Ensembl | |
|
rs1271461148 COSM3888540 COSM3888539 |
199 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1216035390 | 199 | G>R | No | gnomAD | |
| rs1216035390 | 199 | G>W | No | gnomAD | |
| rs1966881271 | 200 | T>I | No | TOPMed | |
| rs1309497759 | 201 | A>T | No | gnomAD | |
|
rs376487384 RCV002044562 |
201 | A>V | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM1301979 COSM1301980 |
202 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1285244487 | 203 | R>S | No | gnomAD | |
| rs757575516 | 205 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs751747008 | 205 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs757575516 | 205 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs757575516 | 205 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs1268114133 | 206 | P>A | No | TOPMed | |
| rs1419836086 | 206 | P>H | No |
TOPMed gnomAD |
|
| rs1419836086 | 206 | P>R | No |
TOPMed gnomAD |
|
|
rs775401309 RCV001955507 |
207 | I>missing | No |
ClinVar dbSNP |
|
| rs1966880755 | 208 | R>G | No | gnomAD | |
| rs752745921 | 209 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs1422965899 | 209 | A>T | No | gnomAD | |
| rs752745921 | 209 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1257964422 | 211 | G>E | No |
TOPMed gnomAD |
|
| rs1192968354 | 213 | G>R | No | gnomAD | |
| rs1179857565 | 215 | D>E | No |
TOPMed gnomAD |
|
| rs2143015866 | 216 | P>A | No | Ensembl | |
| rs1486237273 | 216 | P>L | No |
TOPMed gnomAD |
|
| rs1414093128 | 217 | A>D | No |
TOPMed gnomAD |
|
| rs575256657 | 217 | A>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM376648 rs575256657 |
217 | A>S | lung [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs575256657 RCV001907748 |
217 | A>T | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs771808362 | 218 | Q>L | No |
ExAC gnomAD |
|
| rs1274237540 | 219 | A>P | No | gnomAD | |
| rs1274237540 | 219 | A>S | No | gnomAD | |
| rs747699059 | 220 | V>L | No |
ExAC gnomAD |
|
| rs773986726 | 221 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs773986726 | 221 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs746382800 | 222 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs1596766735 | 222 | S>P | No | Ensembl | |
|
RCV002020901 rs375694298 |
223 | P>L | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs375694298 | 223 | P>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1166766264 | 224 | G>V | No | gnomAD | |
| rs1966880143 | 225 | Q>* | No | TOPMed | |
| rs752827965 | 225 | Q>H | No |
ExAC gnomAD |
|
| rs1429183311 | 226 | G>E | No |
TOPMed gnomAD |
|
| rs778955220 | 226 | G>R | No |
ExAC gnomAD |
|
| rs1596766681 | 227 | D>H | No | Ensembl | |
| rs754980825 | 229 | V>A | No |
ExAC gnomAD |
|
| rs754980825 | 229 | V>D | No |
ExAC gnomAD |
|
|
COSM5535055 COSM5535056 |
230 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs753729564 | 232 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1025157257 | 232 | P>S | No |
TOPMed gnomAD |
|
| rs760416174 | 233 | A>V | No |
ExAC gnomAD |
|
| rs1257966650 | 234 | Q>* | No |
TOPMed gnomAD |
|
|
rs750201520 RCV002216481 |
234 | Q>R | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1308718094 | 235 | A>E | No | gnomAD | |
| rs1308718094 | 235 | A>G | No | gnomAD | |
|
rs1966879793 RCV002029218 |
235 | A>T | No |
ClinVar TOPMed dbSNP |
|
| rs1308718094 | 235 | A>V | No | gnomAD | |
| rs1385755662 | 236 | F>L | No | gnomAD | |
| rs892660533 | 236 | F>V | No | TOPMed | |
| rs761554353 | 237 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs774082347 | 237 | P>R | No |
ExAC gnomAD |
|
| rs1232683707 | 238 | G>S | No | gnomAD | |
| rs1596766606 | 239 | H>P | No | Ensembl | |
| TCGA novel | 239 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1567289079 | 240 | L>P | No | Ensembl | |
| rs762479124 | 241 | P>A | No |
ExAC gnomAD |
|
| TCGA novel | 241 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762479124 | 241 | P>S | No |
ExAC gnomAD |
|
| rs146368832 | 244 | T>A | No |
ESP TOPMed gnomAD |
|
| rs771442072 | 248 | A>D | No |
ExAC gnomAD |
|
| rs747386009 | 249 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs138592429 | 250 | A>D | No |
ESP TOPMed gnomAD |
|
| rs867683217 | 250 | A>T | No | Ensembl | |
| rs1375995995 | 251 | P>A | No |
TOPMed gnomAD |
|
| rs1375995995 | 251 | P>S | No |
TOPMed gnomAD |
|
| rs57344348 | 252 | E>D | No | Ensembl | |
| rs571248682 | 252 | E>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs867569891 | 253 | T>I | No | Ensembl | |
| rs867569891 | 253 | T>K | No | Ensembl | |
| rs1966878732 | 254 | P>A | No | gnomAD | |
| rs373194962 | 255 | S>N | No |
ESP ExAC gnomAD |
|
| rs779047022 | 255 | S>R | No |
ExAC TOPMed gnomAD |
|
|
RCV002025317 rs748243987 |
256 | E>K | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1596766536 | 257 | N>T | No | Ensembl | |
| rs1254779675 | 259 | R>G | No | gnomAD | |
| rs1174433944 | 261 | G>A | No |
TOPMed gnomAD |
|
| rs1231803167 | 262 | L>V | No |
TOPMed gnomAD |
|
|
rs779895628 RCV001875489 |
264 | L>F | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1237569452 | 265 | A>T | No | gnomAD | |
| rs1329249080 | 266 | P>L | No | gnomAD | |
| rs369427292 | 266 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
|
rs144720678 RCV002133898 |
269 | G>S | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs768899772 | 270 | R>S | No | gnomAD | |
| rs942717439 | 271 | V>A | No |
TOPMed gnomAD |
|
|
rs942717439 RCV002044804 |
271 | V>D | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs867680881 | 271 | V>F | No | TOPMed | |
| rs942717439 | 271 | V>G | No |
TOPMed gnomAD |
|
| rs867680881 | 271 | V>L | No | TOPMed | |
| rs1966878121 | 272 | N>H | No | TOPMed | |
| rs1567289016 | 272 | N>I | No | Ensembl | |
| rs761644584 | 273 | V>M | No |
ExAC gnomAD |
|
| rs763802175 | 275 | S>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs763802175 | 275 | S>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs762412588 RCV001931187 |
276 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1966877821 | 277 | S>R | No | gnomAD | |
| rs1966877796 | 278 | L>M | No | Ensembl | |
| rs962901918 | 278 | L>Q | No | Ensembl | |
|
rs771402706 RCV002042100 |
279 | E>D | No |
ClinVar ExAC dbSNP gnomAD |
|
|
COSM108496 rs145715350 |
279 | E>K | skin [Cosmic] | No |
cosmic curated Ensembl |
| rs1485699387 | 280 | V>A | No | gnomAD | |
| rs1225788263 | 280 | V>I | No |
TOPMed gnomAD |
|
| TCGA novel | 281 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1966877592 | 282 | P>A | No | Ensembl | |
| rs1250521128 | 282 | P>L | No |
TOPMed gnomAD |
|
| rs761236662 | 283 | G>D | No |
ExAC gnomAD |
|
|
RCV001907667 rs1966877546 |
283 | G>R | No |
ClinVar TOPMed dbSNP |
|
| rs1017485933 | 284 | A>S | No | gnomAD | |
| rs1017485933 | 284 | A>T | No | gnomAD | |
| rs933137647 | 285 | G>E | No | TOPMed | |
| rs1567288982 | 286 | Q>K | No | Ensembl | |
| rs1352459868 | 286 | Q>L | No |
TOPMed gnomAD |
|
|
COSM3420997 COSM3420996 |
287 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs868387190 | 287 | G>E | No |
TOPMed gnomAD |
|
| rs773638541 | 287 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1966877276 | 288 | A>G | No | Ensembl | |
| rs150370594 | 288 | A>T | No |
ESP ExAC |
|
|
rs374905189 RCV001980351 |
289 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs374905189 | 289 | S>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs887167515 | 290 | S>F | No | Ensembl | |
| rs774586080 | 292 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1278775467 | 292 | R>S | No | gnomAD | |
|
COSM970783 COSM970784 |
293 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs941919480 | 295 | P>A | No |
TOPMed gnomAD |
|
| rs941919480 | 295 | P>S | No |
TOPMed gnomAD |
|
| rs941919480 | 295 | P>T | No |
TOPMed gnomAD |
|
| rs1966877059 | 296 | E>G | No | Ensembl | |
|
RCV001974265 rs768889997 |
297 | P>A | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs779945781 | 297 | P>L | No | Ensembl | |
| TCGA novel | 297 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM258662 COSM258663 |
298 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780178203 | 300 | E>K | No |
ExAC gnomAD |
|
| rs1443122899 | 301 | G>D | No | gnomAD | |
| rs1455658869 | 301 | G>S | No | gnomAD | |
|
COSM99087 rs745833581 RCV002013773 |
302 | T>M | stomach [Cosmic] | No |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
| rs745833581 | 302 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1966876777 | 303 | R>M | No | gnomAD | |
| rs267604551 | 306 | P>L | No |
ExAC gnomAD |
|
| rs1190799016 | 307 | G>E | No | gnomAD | |
| rs763892427 | 307 | G>R | No |
ExAC gnomAD |
|
| rs868851274 | 309 | G>D | No | Ensembl | |
| rs758059819 | 309 | G>S | No |
ExAC TOPMed gnomAD |
|
|
COSM3509694 COSM3509695 |
310 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3509693 COSM3509692 |
311 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1161909680 | 311 | Q>K | No | Ensembl | |
| rs1966876412 | 311 | Q>P | No | Ensembl | |
| rs1264599225 | 312 | C>* | No | gnomAD | |
| rs1966876383 | 312 | C>F | No | TOPMed | |
| rs764803236 | 313 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1390687797 | 313 | P>S | No |
TOPMed gnomAD |
|
|
rs1276234134 RCV001884079 |
314 | G>E | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1966876296 | 314 | G>R | No |
TOPMed gnomAD |
|
|
RCV001878624 rs1276234134 |
314 | G>V | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1325989776 | 315 | P>A | No |
TOPMed gnomAD |
|
|
COSM3888538 COSM3888537 |
315 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1325989776 | 315 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1432443084 | 317 | G>E | No | TOPMed | |
| rs1372590569 | 317 | G>R | No |
TOPMed gnomAD |
|
| rs1319201975 | 319 | P>S | No |
TOPMed gnomAD |
|
| rs1319201975 | 319 | P>T | No |
TOPMed gnomAD |
|
| rs773726861 | 320 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs1388881621 | 321 | Q>P | No | gnomAD | |
|
rs2143015787 RCV001970754 |
322 | A>T | No |
ClinVar Ensembl dbSNP |
|
| rs1966876119 | 322 | A>V | No | TOPMed | |
| rs758112525 | 324 | A>E | No |
TOPMed gnomAD |
|
| rs2143015786 | 325 | T>A | No | Ensembl | |
| rs762203509 | 325 | T>I | No |
ExAC gnomAD |
|
| rs762203509 | 325 | T>N | No |
ExAC gnomAD |
|
| rs774675930 | 326 | H>D | No |
ExAC gnomAD |
|
| rs1449469155 | 327 | S>C | No | gnomAD | |
| rs768817099 | 327 | S>N | No |
ExAC TOPMed gnomAD |
|
|
RCV001883976 rs1336760816 |
328 | G>D | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1214018032 | 328 | G>S | No | gnomAD | |
| rs570086701 | 329 | G>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2143015784 | 331 | T>I | No | Ensembl | |
| rs1338790516 | 332 | P>S | No | gnomAD | |
| rs1407629131 | 335 | I>N | No | gnomAD | |
| rs774763827 | 335 | I>V | No |
ExAC gnomAD |
|
|
COSM6144568 COSM6144569 |
336 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1455273213 | 337 | I>S | No |
TOPMed gnomAD |
|
| rs1178151882 | 337 | I>V | No | gnomAD | |
| rs1471393334 | 338 | H>D | No |
TOPMed gnomAD |
|
| rs1471393334 | 338 | H>N | No |
TOPMed gnomAD |
|
| rs764532743 | 338 | H>R | No |
ExAC gnomAD |
|
| rs534005345 | 339 | I>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs759741431 | 339 | I>M | No |
ExAC TOPMed gnomAD |
|
|
rs534005345 RCV001909789 |
339 | I>T | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs558671219 | 339 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1208003274 | 340 | Q>* | No |
TOPMed gnomAD |
|
|
RCV001911652 rs771062238 |
342 | M>I | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1241053473 | 342 | M>L | No |
TOPMed gnomAD |
|
|
rs2143015144 RCV002038947 |
342 | M>T | No |
ClinVar Ensembl dbSNP |
|
|
RCV001880447 rs761719450 |
343 | D>G | No |
ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 343 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761719450 | 343 | D>V | No |
TOPMed gnomAD |
|
|
COSM3969567 COSM3969566 |
346 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1451694315 | 347 | E>V | No |
TOPMed gnomAD |
|
|
rs140405555 RCV001979965 |
348 | M>L | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1307355631 | 348 | M>T | No |
TOPMed gnomAD |
|
| rs771920372 | 350 | M>I | No |
ExAC gnomAD |
|
| rs907665128 | 350 | M>V | No | TOPMed | |
| rs1013606482 | 352 | G>A | No |
TOPMed gnomAD |
|
| rs1013606482 | 352 | G>D | No |
TOPMed gnomAD |
|
| rs1013606482 | 352 | G>V | No |
TOPMed gnomAD |
|
|
RCV001940883 rs1446512973 |
353 | R>G | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs536547926 | 354 | G>D | No |
ExAC gnomAD |
|
| rs1436053423 | 355 | S>N | No |
TOPMed gnomAD |
|
| rs1436053423 | 355 | S>T | No |
TOPMed gnomAD |
|
| rs1409946734 | 358 | P>L | No | gnomAD | |
|
rs753404471 RCV001980768 |
358 | P>T | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs1474813309 | 359 | T>A | No | gnomAD | |
| rs1474813309 | 359 | T>P | No | gnomAD | |
| rs1258157232 | 359 | T>S | No | gnomAD | |
|
rs779533825 RCV002003443 |
360 | L>F | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs755564596 | 361 | T>I | No |
ExAC gnomAD |
|
| rs1596762427 | 361 | T>P | No | Ensembl | |
| rs1236218372 | 363 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1280449127 | 363 | E>Q | No |
TOPMed gnomAD |
|
| rs1215397927 | 364 | A>P | No |
TOPMed gnomAD |
|
| rs1215397927 | 364 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs752130176 | 364 | A>V | No |
ExAC gnomAD |
|
| rs1212890266 | 365 | P>A | No |
TOPMed gnomAD |
|
| rs1212890266 | 365 | P>S | No |
TOPMed gnomAD |
|
| rs752984191 | 366 | A>E | No |
ExAC gnomAD |
|
| rs763416838 | 366 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs1260974787 | 367 | A>V | No |
TOPMed gnomAD |
|
|
RCV001963440 rs1032591620 |
368 | A>D | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2143015130 | 368 | A>S | No | Ensembl | |
| rs1287898704 | 369 | Q>H | No |
TOPMed gnomAD |
|
| rs759837142 | 369 | Q>P | No |
ExAC gnomAD |
|
| rs1966854828 | 370 | P>R | No | TOPMed | |
| rs1430964433 | 370 | P>S | No | gnomAD | |
| TCGA novel | 371 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM970781 COSM970782 rs1460736357 |
374 | G>D | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs776930306 | 374 | G>S | No |
ExAC gnomAD |
|
| rs1417315580 | 376 | P>L | No |
TOPMed gnomAD |
|
| rs1966854780 | 376 | P>S | No | TOPMed | |
| rs1966854745 | 379 | G>E | No | TOPMed | |
|
rs760783642 RCV001946028 |
379 | G>R | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001989907 rs771870674 |
380 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs771870674 | 380 | R>G | No |
ExAC TOPMed gnomAD |
|
|
rs145982918 RCV002050207 |
380 | R>H | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1486288890 | 381 | C>F | No |
TOPMed gnomAD |
|
| rs1212134576 | 384 | A>D | No | gnomAD | |
| rs1274337561 | 385 | P>A | No | gnomAD | |
| rs1235725661 | 385 | P>L | No | gnomAD | |
| rs1966854675 | 386 | G>V | No | TOPMed | |
| rs541083262 | 388 | E>A | No | Ensembl | |
| rs779633696 | 389 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs748943202 | 389 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs748943202 | 389 | P>T | No |
ExAC TOPMed gnomAD |
|
|
VAR_035630 RCV002119557 rs141602742 |
390 | G>R | a colorectal cancer sample; somatic mutation [UniProt] | No |
ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001912085 rs2143015116 |
390 | G>V | No |
ClinVar Ensembl dbSNP |
|
|
COSM262231 COSM262232 |
391 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1439875827 | 393 | T>N | No | gnomAD | |
| rs1596762292 | 393 | T>P | No | Ensembl | |
| rs1463963501 | 394 | P>L | No | gnomAD | |
|
rs1327805643 RCV002029045 |
394 | P>T | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1350601241 | 395 | E>G | No |
TOPMed gnomAD |
|
| rs753176672 | 395 | E>K | No |
ExAC gnomAD |
|
| rs1421906225 | 397 | A>V | No | gnomAD | |
| TCGA novel | 399 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765705140 | 399 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs759918771 | 400 | L>F | No |
ExAC gnomAD |
|
| rs754132163 | 400 | L>R | No |
ExAC gnomAD |
|
|
rs766666069 RCV001948974 |
401 | S>F | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001973816 rs766666069 |
401 | S>Y | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs773142348 | 402 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs761650400 | 402 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001961623 rs773142348 |
402 | P>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1966854503 | 403 | L>Q | No | gnomAD | |
|
RCV001990457 rs749043337 |
404 | Q>* | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs1305294708 | 406 | S>N | No | gnomAD | |
| rs1389474705 | 406 | S>R | No |
TOPMed gnomAD |
|
| rs199554820 | 409 | P>T | No | Ensembl | |
|
RCV002020231 rs569088780 |
410 | G>R | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 411 | G>E | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780565861 | 411 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1453956057 | 412 | V>A | No |
TOPMed gnomAD |
|
| rs1412142399 | 413 | K>N | No | gnomAD | |
| rs1395938846 | 414 | A>E | No |
TOPMed gnomAD |
|
| rs748620625 | 415 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs779509518 | 417 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs779509518 | 417 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs754220429 | 418 | Q>E | No |
ExAC gnomAD |
|
| rs1257530646 | 418 | Q>H | No | gnomAD | |
|
RCV002008948 rs1353123562 |
420 | A>S | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
COSM3361769 COSM3361768 |
421 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1966854316 | 422 | A>D | No | TOPMed | |
| rs1209556503 | 422 | A>T | No | gnomAD | |
|
RCV001988655 rs2143015087 |
423 | E>missing | No |
ClinVar dbSNP |
|
| rs1236605949 | 423 | E>A | No | gnomAD | |
| rs750581071 | 423 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs1335005518 | 425 | G>S | No | gnomAD | |
| rs767498123 | 426 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs774304386 | 427 | R>G | No |
ExAC gnomAD |
|
| rs1966854251 | 428 | P>R | No | Ensembl | |
| rs1311084294 | 428 | P>S | No | gnomAD | |
| rs763989358 | 429 | S>G | No |
ExAC gnomAD |
|
|
rs1966854242 TCGA novel |
429 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs775254563 | 431 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs775254563 | 431 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs1452052096 | 432 | R>K | No | gnomAD | |
| rs769506600 | 432 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs571434659 | 433 | S>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs571434659 | 433 | S>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs202183804 | 434 | D>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM99085 rs144566580 RCV002218189 |
435 | D>H | stomach [Cosmic] | No |
cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| rs144566580 | 435 | D>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs561332041 RCV001931059 |
436 | N>S | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs543160519 | 437 | D>E | No |
1000Genomes ExAC |
|
| rs1268347478 | 437 | D>G | No |
TOPMed gnomAD |
|
|
rs200074276 COSM4901193 COSM4901194 |
439 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD |
| rs376752336 | 440 | V>A | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 440 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs376752336 | 440 | V>G | No |
ExAC TOPMed gnomAD |
|
|
COSM1301975 COSM1301976 |
441 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768408009 | 442 | A>S | No |
TOPMed gnomAD |
|
|
RCV001985762 rs768408009 |
442 | A>T | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs750622978 | 444 | G>C | No |
ExAC gnomAD |
|
| rs750622978 | 444 | G>S | No |
ExAC gnomAD |
|
| rs1025252879 | 445 | L>M | No |
TOPMed gnomAD |
|
| rs1966854118 | 445 | L>P | No | TOPMed | |
| rs967337379 | 446 | Q>H | No |
TOPMed gnomAD |
|
| rs767738829 | 447 | Q>K | No |
ExAC gnomAD |
|
| rs757321126 | 447 | Q>L | No |
ExAC gnomAD |
|
| rs757321126 | 447 | Q>P | No |
ExAC gnomAD |
|
| rs757321126 | 447 | Q>R | No |
ExAC gnomAD |
|
| rs867774916 | 448 | G>D | No | gnomAD | |
|
rs149131914 RCV001986524 |
450 | S>I | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2143015082 | 451 | P>L | No | Ensembl | |
|
rs764079283 RCV001967500 |
452 | G>E | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs764079283 | 452 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs375127046 | 453 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs2143015081 RCV002003025 |
453 | A>T | No |
ClinVar Ensembl dbSNP |
|
|
RCV002032324 rs375127046 |
453 | A>V | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM4060813 COSM4060814 |
454 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs576887058 | 456 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
|
COSM703743 COSM703742 |
459 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1966854015 | 459 | E>G | No |
TOPMed gnomAD |
|
| rs1446013874 | 460 | Q>H | No |
TOPMed gnomAD |
|
| rs776175670 | 460 | Q>K | No |
ExAC gnomAD |
|
| rs1966854000 | 460 | Q>P | No | TOPMed | |
| rs772832912 | 461 | D>E | No | ExAC | |
| rs375700169 | 461 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs375700169 | 461 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs375700169 | 461 | D>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs903955717 | 462 | C>G | No |
TOPMed gnomAD |
|
| rs903955717 | 462 | C>R | No |
TOPMed gnomAD |
|
| rs903955717 | 462 | C>S | No |
TOPMed gnomAD |
|
| TCGA novel | 463 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1966853971 | 464 | A>V | No | Ensembl | |
| rs749816781 | 465 | R>T | No |
ExAC gnomAD |
|
| rs780649173 | 466 | A>T | No |
ExAC gnomAD |
|
| rs770077820 | 467 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs770077820 | 467 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs1336899668 | 467 | P>S | No | gnomAD | |
| rs1326006130 | 470 | A>V | No |
TOPMed gnomAD |
|
| rs746531286 | 472 | A>E | No | Ensembl | |
| rs781319168 | 472 | A>T | No |
ExAC gnomAD |
|
| rs757489246 | 473 | V>I | No |
ExAC gnomAD |
|
| rs757489246 | 473 | V>L | No |
ExAC gnomAD |
|
| rs1462387236 | 474 | R>G | No | gnomAD | |
|
rs1416614901 RCV002047637 |
474 | R>K | No |
ClinVar dbSNP gnomAD |
|
| rs1416614901 | 474 | R>M | No | gnomAD | |
| rs1966853874 | 475 | R>K | No | gnomAD | |
|
rs2143015065 RCV001965134 |
477 | P>L | No |
ClinVar Ensembl dbSNP |
|
| rs564847306 | 477 | P>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1373280769 | 478 | P>S | No |
TOPMed gnomAD |
|
|
COSM3509684 COSM3509685 |
479 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs540347465 | 480 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001962191 rs145205288 |
481 | E>K | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1270802404 | 482 | A>T | No | gnomAD | |
| rs1338887311 | 483 | G>D | No | gnomAD | |
| rs1047663302 | 483 | G>R | No | Ensembl | |
| rs1966853799 | 484 | S>N | No |
TOPMed gnomAD |
|
| rs1369086450 | 486 | V>A | No | gnomAD | |
| rs1369086450 | 486 | V>G | No | gnomAD | |
| rs761358259 | 487 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs1165889514 | 490 | S>G | No |
TOPMed gnomAD |
|
| rs1420361475 | 490 | S>I | No | TOPMed | |
|
rs767239263 RCV001877675 |
491 | P>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2143014869 | 492 | A>T | No | Ensembl | |
|
RCV001942369 rs2143014868 |
493 | P>S | No |
ClinVar Ensembl dbSNP |
|
| rs533690935 | 494 | P>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 495 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1338223406 COSM1709113 RCV001903986 |
496 | P>L | skin [Cosmic] | No |
cosmic curated ClinVar Ensembl dbSNP |
| rs765730236 | 496 | P>S | No |
ExAC TOPMed gnomAD |
|
|
RCV002026169 rs765730236 |
496 | P>T | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001988791 rs2143014862 |
497 | F>missing | No |
ClinVar dbSNP |
|
|
COSM3794861 COSM3794860 |
498 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM6079238 COSM6079239 |
500 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs200767810 | 500 | R>L | No |
TOPMed gnomAD |
|
| rs200767810 | 500 | R>Q | No |
TOPMed gnomAD |
|
| rs776941985 | 500 | R>W | No |
ExAC TOPMed gnomAD |
|
|
rs374009844 RCV002026274 |
501 | V>I | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs374009844 | 501 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
|
rs528981118 RCV002004586 |
504 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs528981118 | 504 | V>L | No |
ExAC TOPMed gnomAD |
|
|
RCV001978769 rs1043201067 |
505 | K>N | No |
ClinVar TOPMed dbSNP |
|
| rs927901619 | 506 | E>* | No | TOPMed | |
| rs779048286 | 507 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs779048286 | 507 | T>N | No |
ExAC gnomAD |
|
| rs1449715209 | 508 | S>T | No |
TOPMed gnomAD |
|
| rs1442099326 | 508 | S>Y | No | gnomAD | |
|
COSM1301974 COSM1301973 |
510 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs779807650 | 511 | A>E | No |
ExAC TOPMed gnomAD |
|
|
COSM252634 rs779807650 RCV001927304 COSM252633 |
511 | A>V | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1455768841 | 512 | G>A | No | TOPMed | |
| rs1966850741 | 512 | G>S | No | TOPMed | |
|
rs2143014857 RCV001875399 |
513 | Y>D | No |
ClinVar Ensembl dbSNP |
|
|
RCV002029369 rs767335669 |
514 | E>K | No |
ClinVar ExAC dbSNP gnomAD |
|
|
COSM6144570 rs1402178534 COSM1519172 COSM6144571 |
515 | V>M | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs763671984 | 518 | H>Y | No |
ExAC TOPMed gnomAD |
|
|
COSM137645 rs146348278 RCV002011229 |
519 | E>K | skin [Cosmic] | No |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| rs1966850680 | 520 | V>A | No | Ensembl | |
|
RCV001894354 rs1407622969 |
521 | L>W | No |
ClinVar TOPMed dbSNP |
|
| rs1215518372 | 522 | G>V | No | gnomAD | |
| rs1317263845 | 523 | G>R | No | TOPMed | |
| rs774666158 | 524 | G>S | No |
ExAC gnomAD |
|
| rs143794902 | 525 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
|
rs775706296 RCV002031616 |
525 | R>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs775706296 | 525 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs775706296 | 525 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
RCV001866991 rs143794902 |
525 | R>W | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1966848636 | 527 | G>D | No | TOPMed | |
|
rs781224041 RCV001920222 |
528 | Q>H | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1567285899 | 529 | V>A | No | Ensembl | |
| rs1966848620 | 529 | V>I | No | TOPMed | |
| rs1966848583 | 532 | C>F | No | TOPMed | |
| rs375577871 | 532 | C>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs777526469 | 533 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs1193468533 | 534 | E>Q | No | gnomAD | |
| rs1966848553 | 535 | K>E | No | Ensembl | |
| rs752274045 | 535 | K>R | No |
ExAC gnomAD |
|
| rs9923813 | 536 | S>T | No | gnomAD | |
| rs754429348 | 537 | T>A | No |
ExAC gnomAD |
|
|
rs374127974 RCV001982042 |
537 | T>I | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2143014710 | 538 | G>C | No | Ensembl | |
| rs140150530 | 540 | P>S | No |
ESP ExAC gnomAD |
|
| TCGA novel | 544 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs185999875 | 545 | I>V | No |
1000Genomes ExAC gnomAD |
|
|
COSM1749606 rs764444623 |
546 | I>M | urinary_tract [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1966848494 | 546 | I>V | No |
TOPMed gnomAD |
|
| rs1966848482 | 547 | K>R | No |
TOPMed gnomAD |
|
| rs1966848476 | 548 | V>G | No | Ensembl | |
| rs1372638869 | 551 | A>T | No |
TOPMed gnomAD |
|
| rs1966848453 | 553 | D>H | No | TOPMed | |
| rs1378535505 | 554 | R>P | No |
TOPMed gnomAD |
|
| rs1378535505 | 554 | R>Q | No |
TOPMed gnomAD |
|
|
RCV001987919 rs775796132 |
554 | R>W | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs995394139 | 555 | E>G | No | Ensembl | |
|
COSM1679060 COSM1679059 |
555 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001964583 rs369679573 |
557 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1418347564 RCV001880855 |
558 | K>N | No |
ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 559 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1966847626 | 559 | N>S | No | TOPMed | |
| rs1332616741 | 561 | I>V | No | gnomAD | |
|
RCV001999296 rs1966847597 |
562 | N>K | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1291454243 | 562 | N>S | No | gnomAD | |
| rs1244164543 | 563 | I>L | No |
TOPMed gnomAD |
|
| rs1244164543 | 563 | I>V | No |
TOPMed gnomAD |
|
| rs765522176 | 564 | M>V | No |
ExAC gnomAD |
|
| rs1966847576 | 565 | N>S | No | Ensembl | |
| rs1388421441 | 566 | Q>* | No | gnomAD | |
| rs759735281 | 566 | Q>H | No |
ExAC gnomAD |
|
| TCGA novel | 566 | Q>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760538629 | 570 | V>A | No |
ExAC gnomAD |
|
|
RCV001945207 rs766410100 |
570 | V>M | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1427668468 | 576 | Y>C | No |
TOPMed gnomAD |
|
| rs1427668468 | 576 | Y>F | No |
TOPMed gnomAD |
|
| rs774034698 | 578 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs147974021 | 579 | F>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs779433094 | 580 | E>D | No | ExAC | |
|
RCV001995221 rs748855280 |
580 | E>K | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs748855280 | 580 | E>Q | No |
ExAC TOPMed gnomAD |
|
|
rs764920366 COSM364396 |
583 | H>Q | lung [Cosmic] | No |
cosmic curated TOPMed gnomAD |
|
RCV001984071 rs755591880 |
584 | S>N | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs931060319 | 585 | C>R | No | TOPMed | |
|
RCV002007966 rs1596759035 |
586 | T>P | No |
ClinVar Ensembl dbSNP |
|
| rs369236002 | 589 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
|
rs948459212 RCV002012328 |
590 | E>Q | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
COSM970779 COSM970780 |
591 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV002046743 rs753087592 |
591 | Y>H | No |
ClinVar ExAC dbSNP gnomAD |
|
|
COSM1216291 RCV001939739 COSM1216292 rs1207608535 |
592 | V>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM970777 COSM970778 |
593 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1220182961 | 594 | G>E | No |
TOPMed gnomAD |
|
|
RCV002043918 rs1465298646 |
594 | G>R | No |
ClinVar TOPMed dbSNP |
|
|
RCV002048258 rs757982087 |
595 | G>missing | No |
ClinVar dbSNP |
|
|
RCV001976504 rs1009906918 |
595 | G>A | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
COSM3509677 COSM3509676 |
595 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1009906918 | 595 | G>V | No |
TOPMed gnomAD |
|
|
COSM970775 rs780286175 COSM970776 RCV001894208 |
599 | D>N | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
| rs759822773 | 600 | R>Q | No |
TOPMed gnomAD |
|
|
RCV001957671 rs202097167 |
600 | R>W | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs201988589 | 601 | I>F | No |
ExAC TOPMed gnomAD |
|
| rs201988589 | 601 | I>L | No |
ExAC TOPMed gnomAD |
|
|
rs767500788 RCV001948427 |
602 | T>I | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 603 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs142296656 | 604 | E>G | No |
1000Genomes ExAC gnomAD |
|
| rs1966844616 | 606 | Y>H | No | Ensembl | |
|
RCV002012956 rs775044781 |
607 | H>N | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1412745879 | 607 | H>Q | No |
TOPMed gnomAD |
|
| rs769462385 | 608 | L>P | No |
ExAC gnomAD |
|
|
rs1211248421 RCV001898463 |
609 | T>A | No |
ClinVar dbSNP gnomAD |
|
| TCGA novel | 609 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1364023638 | 609 | T>S | No | Ensembl | |
| rs1966844574 | 612 | D>G | No | Ensembl | |
|
RCV001883909 rs370527121 |
613 | V>G | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1229781596 | 617 | T>A | No |
TOPMed gnomAD |
|
| rs1229781596 | 617 | T>P | No |
TOPMed gnomAD |
|
| rs1966844539 | 618 | R>G | No | gnomAD | |
|
rs1012451421 RCV001887624 |
622 | E>D | No |
ClinVar dbSNP gnomAD |
|
| rs1966844533 | 622 | E>G | No | Ensembl | |
| rs959705712 | 624 | V>G | No | Ensembl | |
| rs1966844518 | 627 | L>V | No | Ensembl | |
| rs1208612242 | 628 | H>Y | No |
TOPMed gnomAD |
|
| rs1457816277 | 629 | Q>E | No | TOPMed | |
| rs1330455203 | 630 | H>P | No | gnomAD | |
| rs748682506 | 630 | H>Q | No |
ExAC gnomAD |
|
| rs2143014444 | 631 | Y>* | No | Ensembl | |
|
RCV001945053 rs2143014443 |
632 | I>V | No |
ClinVar Ensembl dbSNP |
|
|
RCV001890056 rs2143014442 |
634 | H>Q | No |
ClinVar Ensembl dbSNP |
|
| rs1292359679 | 635 | L>V | No |
TOPMed gnomAD |
|
| rs1432256739 | 637 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1432256739 | 637 | L>V | No | TOPMed | |
| rs1284480446 | 638 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs749635337 | 638 | K>R | No |
ExAC gnomAD |
|
| rs754683857 | 639 | P>A | No |
ExAC TOPMed gnomAD |
|
|
RCV001866451 rs192689311 |
639 | P>L | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs754683857 | 639 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs200273365 | 640 | E>* | No | 1000Genomes | |
| TCGA novel | 640 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368567521 RCV001970455 |
642 | I>M | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1966795703 | 644 | C>F | No | TOPMed | |
| rs763522795 | 645 | V>F | No |
ExAC TOPMed gnomAD |
|
|
COSM258893 COSM258892 rs763522795 |
645 | V>I | Variant assessed as Somatic; MODERATE impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1298968052 | 646 | N>S | No |
TOPMed gnomAD |
|
| TCGA novel | 647 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775810134 | 647 | Q>L | No |
ExAC TOPMed gnomAD |
|
| rs775810134 | 647 | Q>R | No |
ExAC TOPMed gnomAD |
|
| rs770223756 | 648 | T>R | No |
ExAC gnomAD |
|
|
rs1250228134 RCV001964879 |
648 | T>S | No |
ClinVar dbSNP gnomAD |
|
| rs746200101 | 649 | G>R | No |
ExAC gnomAD |
|
| rs975297553 | 649 | G>V | No |
TOPMed gnomAD |
|
|
RCV001965880 rs747154291 |
650 | H>R | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs375330082 | 650 | H>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs145986736 | 654 | I>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs145986736 RCV002191569 |
654 | I>V | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs778677889 | 655 | I>F | No |
ExAC TOPMed gnomAD |
|
|
rs754846249 RCV001893471 |
655 | I>T | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs778677889 RCV001978163 |
655 | I>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs753666933 | 656 | D>E | No |
ExAC gnomAD |
|
|
COSM1563110 COSM1563111 |
656 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1966794958 | 660 | A>V | No | Ensembl | |
| rs1966794921 | 661 | R>K | No | Ensembl | |
|
COSM3888535 COSM3888536 |
662 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM6144573 COSM6144572 |
662 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001990518 rs750129834 |
663 | Y>C | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs780676112 | 666 | R>* | No |
ExAC TOPMed gnomAD |
|
| rs780676112 | 666 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1310908971 | 666 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs1395776753 | 667 | E>G | No | gnomAD | |
| rs751020091 | 668 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1966696971 | 669 | L>V | No | gnomAD | |
|
COSM4060811 COSM4060812 |
671 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1966696880 | 674 | G>S | No | TOPMed | |
| rs760036544 | 675 | T>I | No |
ExAC gnomAD |
|
|
COSM4826277 COSM4826276 |
676 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1966696759 | 678 | F>L | No |
TOPMed gnomAD |
|
| rs2143012735 | 679 | L>M | No | Ensembl | |
| rs1966696710 | 679 | L>P | No | TOPMed | |
| rs1966696710 | 679 | L>Q | No | TOPMed | |
|
rs1405829284 RCV002011741 |
680 | A>T | No |
ClinVar TOPMed dbSNP |
|
| rs2143012733 | 680 | A>V | No | Ensembl | |
| TCGA novel | 683 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1458414519 | 684 | V>A | No | gnomAD | |
| rs766750211 | 684 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1366325326 | 685 | N>S | No | gnomAD | |
| rs760990957 | 688 | F>L | No |
ExAC gnomAD |
|
| rs1424060095 | 690 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| TCGA novel | 692 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs745405303 | 695 | M>I | No |
TOPMed gnomAD |
|
| rs762013654 | 695 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs200085274 | 695 | M>V | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 699 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774291746 RCV001902441 |
699 | G>E | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV002043398 rs1263790395 |
699 | G>R | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs774291746 | 699 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs1341314005 | 700 | V>I | No |
TOPMed gnomAD |
|
| rs917437243 | 702 | T>I | No | Ensembl | |
| rs768790625 | 702 | T>S | No |
ExAC gnomAD |
|
|
RCV001919957 rs2143012724 |
704 | M>K | No |
ClinVar Ensembl dbSNP |
|
| rs778457659 | 704 | M>L | No |
TOPMed gnomAD |
|
| rs778457659 | 704 | M>V | No |
TOPMed gnomAD |
|
| rs570731318 | 705 | L>P | No |
1000Genomes ExAC gnomAD |
|
| rs763181218 | 706 | L>V | No |
ExAC gnomAD |
|
|
COSM3509674 rs1471946055 COSM3509675 |
708 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs77620762 | 709 | L>F | No |
ExAC gnomAD |
|
| rs770660592 | 709 | L>V | No |
ExAC gnomAD |
|
| rs200890698 | 710 | S>C | No |
ExAC gnomAD |
|
| rs200890698 | 710 | S>F | No |
ExAC gnomAD |
|
|
rs754454223 RCV001877204 |
711 | P>A | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs754454223 | 711 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs781696775 | 713 | L>I | No |
ExAC gnomAD |
|
| rs757609714 | 713 | L>P | No | ExAC | |
|
COSM3509672 COSM3509673 |
714 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs752905853 | 714 | G>R | No |
ExAC gnomAD |
|
| rs765250768 | 714 | G>V | No | ExAC | |
| rs752905853 | 714 | G>W | No |
ExAC gnomAD |
|
|
rs766320293 RCV001915377 |
715 | E>G | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs1355220180 | 715 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs772990424 | 716 | T>I | No |
ExAC gnomAD |
|
| rs772990424 | 716 | T>K | No |
ExAC gnomAD |
|
| rs1319862937 | 717 | D>A | No | gnomAD | |
| rs773945196 | 717 | D>E | No |
ExAC gnomAD |
|
| rs761468758 | 717 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs761468758 | 717 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs970711409 | 718 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| TCGA novel | 719 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3888533 COSM3888534 |
721 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs375224034 RCV001997476 |
721 | M>R | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs375224034 | 721 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1256999916 | 721 | M>V | No | TOPMed | |
| rs1596745079 | 723 | F>C | No | Ensembl | |
| rs747453317 | 724 | I>F | No |
ExAC gnomAD |
|
|
rs752995801 RCV001936018 |
727 | C>Y | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs779161657 | 728 | S>G | No |
ExAC gnomAD |
|
| rs1410574900 | 728 | S>R | No |
TOPMed gnomAD |
|
|
COSM970773 COSM970774 |
729 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1966674002 | 730 | D>E | No | TOPMed | |
| rs1229632186 | 730 | D>G | No | Ensembl | |
|
COSM5850931 COSM5850932 |
730 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs753941961 | 734 | D>E | No |
ExAC TOPMed gnomAD |
|
|
rs201767714 RCV001961942 |
735 | T>S | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs750306971 | 736 | F>L | No |
ExAC gnomAD |
|
| rs1218744680 | 738 | G>R | No |
TOPMed gnomAD |
|
| rs1387779351 | 739 | L>F | No |
TOPMed gnomAD |
|
|
rs375441580 RCV001955700 COSM1719588 |
740 | S>L | NS [Cosmic] | No |
cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| rs1966673657 | 740 | S>P | No | TOPMed | |
| rs1399952863 | 741 | E>Q | No |
TOPMed gnomAD |
|
|
RCV001971092 rs2143012504 |
742 | E>A | No |
ClinVar Ensembl dbSNP |
|
| rs774034722 | 744 | K>E | No | ExAC | |
| TCGA novel | 744 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001973638 rs768340016 |
744 | K>R | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
COSM3509669 COSM3509668 |
745 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1228977908 | 746 | F>L | No | gnomAD | |
| rs762435247 | 747 | V>L | No |
ExAC TOPMed gnomAD |
|
|
rs1966673256 RCV001957035 |
748 | S>C | No |
ClinVar TOPMed dbSNP |
|
| rs938575393 | 748 | S>P | No | TOPMed | |
| rs769127734 | 749 | R>Q | No |
ExAC TOPMed gnomAD |
|
|
RCV001863376 rs372617133 |
749 | R>W | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs747537621 | 751 | L>P | No |
ExAC gnomAD |
|
| rs1426820317 | 752 | V>A | No | gnomAD | |
| rs1388652902 | 754 | E>K | No |
TOPMed gnomAD |
|
| rs1388652902 | 754 | E>Q | No |
TOPMed gnomAD |
|
|
COSM3794856 COSM3794857 |
756 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1174625881 | 757 | C>F | No | gnomAD | |
| rs931615702 | 757 | C>G | No | TOPMed | |
|
TCGA novel rs756620434 |
759 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs774957016 | 761 | A>T | No |
ExAC gnomAD |
|
| rs1429320327 | 762 | T>I | No | gnomAD | |
| rs1966662619 | 764 | C>R | No | gnomAD | |
|
rs113145242 RCV002142909 |
768 | E>A | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1471402713 | 768 | E>K | No | gnomAD | |
| rs867007127 | 770 | L>P | No | Ensembl | |
| rs1481514758 | 771 | N>D | No | gnomAD | |
|
COSM471735 COSM471736 |
771 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs371796025 | 773 | L>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs1324199354 | 777 | A>S | No |
TOPMed gnomAD |
|
|
RCV001964165 rs1324199354 |
777 | A>T | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1966662132 | 778 | S>* | No | Ensembl | |
| rs375113235 | 778 | S>* | No |
ESP ExAC TOPMed gnomAD |
|
| rs1966662162 | 778 | S>A | No | TOPMed | |
| rs1596744316 | 779 | R>K | No | TOPMed | |
| rs368163588 | 780 | S>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs768849408 | 781 | K>E | No |
ExAC gnomAD |
|
| rs1375932389 | 782 | T>I | No | gnomAD | |
|
COSM970772 rs374756967 COSM970771 RCV002034050 |
783 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1596744287 | 785 | K>T | No | Ensembl | |
| rs1407557754 | 786 | S>Y | No |
TOPMed gnomAD |
|
|
rs2143012377 RCV002047302 |
787 | Q>* | No |
ClinVar Ensembl dbSNP |
|
|
rs2143012377 RCV001956832 |
787 | Q>E | No |
ClinVar Ensembl dbSNP |
|
| rs1966661493 | 792 | K>I | No | gnomAD | |
| rs774352112 | 793 | Y>H | No |
TOPMed gnomAD |
|
| rs1311152807 | 794 | I>M | No |
TOPMed gnomAD |
|
| rs745928501 | 794 | I>V | No |
ExAC gnomAD |
|
| rs781170518 | 796 | Q>E | No |
ExAC gnomAD |
|
| rs781170518 | 796 | Q>K | No |
ExAC gnomAD |
|
| TCGA novel | 797 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 798 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM276220 COSM276219 |
799 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1966661142 | 800 | K>M | No | Ensembl | |
| rs1464405842 | 802 | H>Y | No | gnomAD | |
| rs769096410 | 803 | F>Y | No |
ExAC gnomAD |
|
| rs749586260 | 804 | Y>H | No |
ExAC TOPMed gnomAD |
|
|
RCV001918676 rs775831910 |
805 | V>M | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV001960840 rs769993017 COSM970770 COSM970769 |
809 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| TCGA novel | 810 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1966640654 | 810 | N>S | No |
TOPMed gnomAD |
|
| rs1360565762 | 811 | R>W | No |
TOPMed gnomAD |
|
|
rs762775841 RCV002034191 |
812 | L>S | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
rs2143012168 RCV001891917 |
814 | K>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 816 | P>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs866523815 | 816 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1326359679 | 817 | T>A | No |
TOPMed gnomAD |
|
|
RCV002191402 rs147929012 |
817 | T>N | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1326359679 | 817 | T>P | No |
TOPMed gnomAD |
|
| rs1966640114 | 818 | S>A | No | TOPMed | |
|
RCV001952502 rs151025183 |
818 | S>F | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs746997455 | 819 | P>L | No |
ExAC TOPMed gnomAD |
No associated diseases with Q32MK0
Functions
| Description | ||
|---|---|---|
| EC Number | 2.7.11.18 | Protein-serine/threonine kinases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| actin cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of actin and associated proteins. Includes actin cytoskeleton-associated complexes. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| calmodulin-dependent protein kinase activity | Calmodulin-dependent catalysis of the reactions |
| myosin light chain kinase activity | Catalysis of the reaction |
9 GO annotations of biological process
| Name | Definition |
|---|---|
| cardiac myofibril assembly | The process whose specific outcome is the progression of the cardiac myofibril over time, from its formation to the mature structure. A cardiac myofibril is a myofibril specific to cardiac muscle cells. |
| cellular response to interleukin-1 | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an interleukin-1 stimulus. |
| intracellular signal transduction | The process in which a signal is passed on to downstream components within the cell, which become activated themselves to further propagate the signal and finally trigger a change in the function or state of the cell. |
| positive regulation of apoptotic process | Any process that activates or increases the frequency, rate or extent of cell death by apoptotic process. |
| positive regulation of sarcomere organization | Any process that increases the rate, frequency or extent of myofibril assembly by organization of muscle actomyosin into sarcomeres. The sarcomere is 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. |
| protein phosphorylation | The process of introducing a phosphate group on to a protein. |
| regulation of vascular permeability involved in acute inflammatory response | Any process that modulates the extent to which blood vessels can be pervaded by fluid contributing to an acute inflammatory response. |
| sarcomere organization | The myofibril assembly process that results in the organization of muscle actomyosin into sarcomeres. The sarcomere is 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. |
| sarcomerogenesis | The process in which sarcomeres are added in series within a fiber. |
105 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A4IFM7 | MYLK2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Bos taurus (Bovine) | SS |
| Q0V7M1 | PSKH1 | Serine/threonine-protein kinase H1 | Bos taurus (Bovine) | SS |
| Q0VD22 | STK33 | Serine/threonine-protein kinase 33 | Bos taurus (Bovine) | PR |
| O15075 | DCLK1 | Serine/threonine-protein kinase DCLK1 | Homo sapiens (Human) | EV |
| Q9UIK4 | DAPK2 | Death-associated protein kinase 2 | Homo sapiens (Human) | EV |
| O94768 | STK17B | Serine/threonine-protein kinase 17B | Homo sapiens (Human) | PR |
| Q16566 | CAMK4 | Calcium/calmodulin-dependent protein kinase type IV | Homo sapiens (Human) | SS |
| Q8N568 | DCLK2 | Serine/threonine-protein kinase DCLK2 | Homo sapiens (Human) | PR |
| Q9UEE5 | STK17A | Serine/threonine-protein kinase 17A | Homo sapiens (Human) | SS |
| O75962 | TRIO | Triple functional domain protein | Homo sapiens (Human) | EV |
| Q8WWF8 | CAPSL | Calcyphosin-like protein | Homo sapiens (Human) | PR |
| P53355 | DAPK1 | Death-associated protein kinase 1 | Homo sapiens (Human) | EV |
| Q9BYT3 | STK33 | Serine/threonine-protein kinase 33 | Homo sapiens (Human) | PR |
| O43293 | DAPK3 | Death-associated protein kinase 3 | Homo sapiens (Human) | PR |
| Q16816 | PHKG1 | Phosphorylase b kinase gamma catalytic chain, skeletal muscle/heart isoform | Homo sapiens (Human) | PR |
| P15735 | PHKG2 | Phosphorylase b kinase gamma catalytic chain, liver/testis isoform | Homo sapiens (Human) | PR |
| Q13554 | CAMK2B | Calcium/calmodulin-dependent protein kinase type II subunit beta | Homo sapiens (Human) | EV |
| Q9UQM7 | CAMK2A | Calcium/calmodulin-dependent protein kinase type II subunit alpha | Homo sapiens (Human) | EV |
| Q13555 | CAMK2G | Calcium/calmodulin-dependent protein kinase type II subunit gamma | Homo sapiens (Human) | EV |
| Q13557 | CAMK2D | Calcium/calmodulin-dependent protein kinase type II subunit delta | Homo sapiens (Human) | EV |
| Q9H1R3 | MYLK2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Homo sapiens (Human) | EV |
| Q86YV6 | MYLK4 | Myosin light chain kinase family member 4 | Homo sapiens (Human) | SS |
| P11801 | PSKH1 | Serine/threonine-protein kinase H1 | Homo sapiens (Human) | SS |
| Q6P2M8 | PNCK | Calcium/calmodulin-dependent protein kinase type 1B | Homo sapiens (Human) | SS |
| Q96NX5 | CAMK1G | Calcium/calmodulin-dependent protein kinase type 1G | Homo sapiens (Human) | SS |
| Q8IU85 | CAMK1D | Calcium/calmodulin-dependent protein kinase type 1D | Homo sapiens (Human) | SS |
| Q8NCB2 | CAMKV | CaM kinase-like vesicle-associated protein | Homo sapiens (Human) | SS |
| Q14012 | CAMK1 | Calcium/calmodulin-dependent protein kinase type 1 | Homo sapiens (Human) | EV |
| Q9QYK9 | Pnck | Calcium/calmodulin-dependent protein kinase type 1B | Mus musculus (Mouse) | PR |
| Q91VB2 | Camk1g | Calcium/calmodulin-dependent protein kinase type 1G | Mus musculus (Mouse) | SS |
| Q8BG48 | Stk17b | Serine/threonine-protein kinase 17B | Mus musculus (Mouse) | PR |
| Q8VCR8 | Mylk2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Mus musculus (Mouse) | SS |
| Q6PGN3 | Dclk2 | Serine/threonine-protein kinase DCLK2 | Mus musculus (Mouse) | PR |
| Q91YS8 | Camk1 | Calcium/calmodulin-dependent protein kinase type 1 | Mus musculus (Mouse) | SS |
| Q8VDF3 | Dapk2 | Death-associated protein kinase 2 | Mus musculus (Mouse) | EV |
| Q6P8Y1 | Capsl | Calcyphosin-like protein | Mus musculus (Mouse) | PR |
| Q8BW96 | Camk1d | Calcium/calmodulin-dependent protein kinase type 1D | Mus musculus (Mouse) | SS |
| Q3UHL1 | Camkv | CaM kinase-like vesicle-associated protein | Mus musculus (Mouse) | SS |
| P08414 | Camk4 | Calcium/calmodulin-dependent protein kinase type IV | Mus musculus (Mouse) | SS |
| Q9JLM8 | Dclk1 | Serine/threonine-protein kinase DCLK1 | Mus musculus (Mouse) | SS |
| Q91YA2 | Pskh1 | Serine/threonine-protein kinase H1 | Mus musculus (Mouse) | SS |
| Q80YE7 | Dapk1 | Death-associated protein kinase 1 | Mus musculus (Mouse) | SS |
| Q62407 | Speg | Striated muscle-specific serine/threonine-protein kinase | Mus musculus (Mouse) | SS |
| Q0KL02 | Trio | Triple functional domain protein | Mus musculus (Mouse) | SS |
| Q924X7 | Stk33 | Serine/threonine-protein kinase 33 | Mus musculus (Mouse) | PR |
| O54784 | Dapk3 | Death-associated protein kinase 3 | Mus musculus (Mouse) | PR |
| Q3UIZ8 | Mylk3 | Myosin light chain kinase 3 | Mus musculus (Mouse) | SS |
| Q7TNJ7 | Camk1g | Calcium/calmodulin-dependent protein kinase type 1G | Rattus norvegicus (Rat) | SS |
| P20689 | Mylk2 | Myosin light chain kinase 2, skeletal/cardiac muscle | Rattus norvegicus (Rat) | SS |
| F1M0Z1 | Trio | Triple functional domain protein | Rattus norvegicus (Rat) | SS |
| Q91XS8 | Stk17b | Serine/threonine-protein kinase 17B | Rattus norvegicus (Rat) | PR |
| O08875 | Dclk1 | Serine/threonine-protein kinase DCLK1 | Rattus norvegicus (Rat) | PR |
| O70150 | Pnck | Calcium/calmodulin-dependent protein kinase type 1B | Rattus norvegicus (Rat) | PR |
| Q63092 | Camkv | CaM kinase-like vesicle-associated protein | Rattus norvegicus (Rat) | SS |
| Q63638 | Speg | Striated muscle-specific serine/threonine-protein kinase | Rattus norvegicus (Rat) | SS |
| O88764 | Dapk3 | Death-associated protein kinase 3 | Rattus norvegicus (Rat) | PR |
| P13234 | Camk4 | Calcium/calmodulin-dependent protein kinase type IV | Rattus norvegicus (Rat) | SS |
| Q63450 | Camk1 | Calcium/calmodulin-dependent protein kinase type 1 | Rattus norvegicus (Rat) | EV |
| P97924 | Kalrn | Kalirin | Rattus norvegicus (Rat) | SS |
| Q5MPA9 | Dclk2 | Serine/threonine-protein kinase DCLK2 | Rattus norvegicus (Rat) | PR |
| E9PT87 | Mylk3 | Myosin light chain kinase 3 | Rattus norvegicus (Rat) | SS |
| Q5VQQ5 | CPK2 | Calcium-dependent protein kinase 2 | Oryza sativa subsp. japonica (Rice) | SS |
| Q8LPZ7 | CPK3 | Calcium-dependent protein kinase 3 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6K968 | CPK6 | Calcium-dependent protein kinase 6 | Oryza sativa subsp. japonica (Rice) | SS |
| P53684 | CPK7 | Calcium-dependent protein kinase 7 | Oryza sativa subsp japonica (Rice) | PR |
| Q75GE8 | CPK8 | Calcium-dependent protein kinase 8 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6I5I8 | CPK16 | Calcium-dependent protein kinase 16 | Oryza sativa subsp. japonica (Rice) | SS |
| Q6AVM3 | CCAMK | Calcium and calcium/calmodulin-dependent serine/threonine-protein kinase | Oryza sativa subsp japonica (Rice) | PR |
| Q84SL0 | CPK20 | Calcium-dependent protein kinase 20 | Oryza sativa subsp. japonica (Rice) | SS |
| P53682 | CPK23 | Calcium-dependent protein kinase 23 | Oryza sativa subsp japonica (Rice) | PR |
| Q9TXJ0 | cmk-1 | Calcium/calmodulin-dependent protein kinase type 1 | Caenorhabditis elegans | PR |
| O44997 | dapk-1 | Death-associated protein kinase dapk-1 | Caenorhabditis elegans | SS |
| Q95QC4 | zyg-8 | Serine/threonine-protein kinase zyg-8 | Caenorhabditis elegans | PR |
| P28583 | Calcium-dependent protein kinase SK5 | Glycine max (Soybean) (Glycine hispida) | PR | |
| Q9M9V8 | CPK10 | Calcium-dependent protein kinase 10 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q39016 | CPK11 | Calcium-dependent protein kinase 11 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FX86 | CRK8 | CDPK-related kinase 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SSF8 | CPK30 | Calcium-dependent protein kinase 30 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38872 | CPK6 | Calcium-dependent protein kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q7XJR9 | CPK16 | Calcium-dependent protein kinase 16 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SIQ7 | CPK24 | Calcium-dependent protein kinase 24 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SJ61 | CPK25 | Calcium-dependent protein kinase 25 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZV15 | CPK20 | Calcium-dependent protein kinase 20 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| P93759 | GK-1 | Calcium-dependent protein kinase 14 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8S8S2 | LPEAT2 | Lysophospholipid acyltransferase LPEAT2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38870 | CPK2 | Calcium-dependent protein kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9LJL9 | CRK2 | CDPK-related kinase 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SG12 | CRK6 | CDPK-related kinase 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SCS2 | CRK5 | CDPK-related kinase 5 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8W4I7 | CPK13 | Calcium-dependent protein kinase 13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q6NLQ6 | CPK32 | Calcium-dependent protein kinase 32 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9ZSA4 | CPK27 | Calcium-dependent protein kinase 27 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38869 | CPK4 | Calcium-dependent protein kinase 4 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q42479 | CPK3 | Calcium-dependent protein kinase 3 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q1PE17 | CPK18 | Calcium-dependent protein kinase 18 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q06850 | CPK1 | Calcium-dependent protein kinase 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FMP5 | CPK17 | Calcium-dependent protein kinase 17 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q38873 | CPK7 | Calcium-dependent protein kinase 7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q3E9C0 | CPK34 | Calcium-dependent protein kinase 34 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q42438 | CPK8 | Calcium-dependent protein kinase 8 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q42396 | CPK12 | Calcium-dependent protein kinase 12 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q9FKW4 | CPK28 | Calcium-dependent protein kinase 28 | Arabidopsis thaliana (Mouse-ear cress) | SS |
| Q1LUA6 | trio | Triple functional domain protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| Q7SY49 | camkv | CaM kinase-like vesicle-associated protein | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| A8C984 | mylk3 | Myosin light chain kinase 3 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSGTSKESLG | HGGLPGLGKT | CLTTMDTKLN | MLNEKVDQLL | HFQEDVTEKL | QSMCRDMGHL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| ERGLHRLEAS | RAPGPGGADG | VPHIDTQAGW | PEVLELVRAM | QQDAAQHGAR | LEALFRMVAA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VDRAIALVGA | TFQKSKVADF | LMQGRVPWRR | GSPGDSPEEN | KERVEEEGGK | PKHVLSTSGV |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QSDAREPGEE | SQKADVLEGT | AERLPPIRAS | GLGADPAQAV | VSPGQGDGVP | GPAQAFPGHL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PLPTKVEAKA | PETPSENLRT | GLELAPAPGR | VNVVSPSLEV | APGAGQGASS | SRPDPEPLEE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GTRLTPGPGP | QCPGPPGLPA | QARATHSGGE | TPPRISIHIQ | EMDTPGEMLM | TGRGSLGPTL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TTEAPAAAQP | GKQGPPGTGR | CLQAPGTEPG | EQTPEGAREL | SPLQESSSPG | GVKAEEEQRA |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GAEPGTRPSL | ARSDDNDHEV | GALGLQQGKS | PGAGNPEPEQ | DCAARAPVRA | EAVRRMPPGA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EAGSVVLDDS | PAPPAPFEHR | VVSVKETSIS | AGYEVCQHEV | LGGGRFGQVH | RCTEKSTGLP |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LAAKIIKVKS | AKDREDVKNE | INIMNQLSHV | NLIQLYDAFE | SKHSCTLVME | YVDGGELFDR |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ITDEKYHLTE | LDVVLFTRQI | CEGVHYLHQH | YILHLDLKPE | NILCVNQTGH | QIKIIDFGLA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| RRYKPREKLK | VNFGTPEFLA | PEVVNYEFVS | FPTDMWSVGV | ITYMLLSGLS | PFLGETDAET |
| 730 | 740 | 750 | 760 | 770 | 780 |
| MNFIVNCSWD | FDADTFEGLS | EEAKDFVSRL | LVKEKSCRMS | ATQCLKHEWL | NNLPAKASRS |
| 790 | 800 | 810 | |||
| KTRLKSQLLL | QKYIAQRKWK | KHFYVVTAAN | RLRKFPTSP |