O75037
Gene name |
KIF21B (KIAA0449) |
Protein name |
Kinesin-like protein KIF21B |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:23046 |
EC number |
|
Protein Class |
CHROMOSOME-ASSOCIATED KINESIN KIF4A-RELATED (PTHR47969) |

Descriptions
KIF21B, a microtubule(MT)-plus-end directed kinesin-4 motor protein, is mainly expressed in spleen, testes and central nervous tissues, particularly enriched in neurons and contains an N-terminal motor domain followed by several coiled coils and a C-terminal WD40 domain. Within neurons, KIF21B promotes intracellular transport through its N-terminal processive motor activity and influences MT dynamics through distinct MT binding domains. KIF21B positively regulates MTs dynamicity in dendrites by favoring MT growth and catastrophes and also acts as a MT pausing factor by accumulating at the MT-plus ends. These KIF21B functions can be modulated through an autoinhibitory interaction between the N-terminal motor domain and an internal regulatory coiled-coil region (rCC). Mutations within the coiled-coil region are associated with autoinhibitory release, which leads to failure of the fine-tuning of KIF21B activity, resulting in defects in proper neuronal migration and axonal growth.
Autoinhibitory domains (AIDs)
Target domain |
6-378 (Kinesin motor domain) |
Relief mechanism |
|
Assay |
Deletion assay, Mutagenesis experiment |
Accessory elements
No accessory elements
Autoinhibited structure

Activated structure

1 structures for O75037
Entry ID | Method | Resolution | Chain | Position | Source |
---|---|---|---|---|---|
AF-O75037-F1 | Predicted | AlphaFoldDB |
1294 variants for O75037
Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
---|---|---|---|---|---|
CA204299 rs750865418 RCV000190240 RCV001836749 |
742 | E>K | Long QT syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
rs796052152 RCV000190139 CA204080 |
1201 | R>W | Variant assessed as Somatic; MODERATE impact. Long QT syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
rs1029285127 CA35975356 |
2 | A>D | No |
ClinGen gnomAD |
|
CA1321776 rs750359794 |
3 | G>V | No |
ClinGen ExAC gnomAD |
|
CA344123735 rs1451627271 |
5 | G>E | No |
ClinGen TOPMed gnomAD |
|
CA35975353 rs996349208 |
6 | D>H | No |
ClinGen gnomAD |
|
rs1558035079 CA344123712 |
6 | D>V | No |
ClinGen Ensembl |
|
rs996349208 CA344123727 |
6 | D>Y | No |
ClinGen gnomAD |
|
rs1177171694 CA344123671 |
8 | C>S | No |
ClinGen TOPMed |
|
rs781118204 CA344123635 CA1321775 |
10 | K>N | No |
ClinGen ExAC gnomAD |
|
CA1321773 rs752880116 |
13 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344123586 rs1455388304 |
13 | V>I | No |
ClinGen gnomAD |
|
CA344123544 rs1485658917 |
14 | R>K | No |
ClinGen gnomAD |
|
CA344120886 rs1481800612 |
16 | R>Q | No |
ClinGen TOPMed |
|
rs147750916 CA35972478 |
19 | L>P | No |
ClinGen ESP |
|
rs1368561142 CA344120798 |
20 | S>L | No |
ClinGen gnomAD |
|
rs554431322 CA1321753 |
20 | S>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1172863230 CA344120700 |
23 | K>N | No |
ClinGen gnomAD |
|
rs923595555 CA35972472 |
25 | E>G | No |
ClinGen TOPMed |
|
CA344120655 rs1422263786 |
25 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA344120649 rs1422263786 |
25 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs754140661 CA1321752 |
26 | G>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 27 | C>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs766637667 CA1321751 |
28 | H>D | No |
ClinGen ExAC gnomAD |
|
rs200017982 CA1321750 |
29 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA344120554 rs1352288891 |
31 | T>P | No |
ClinGen gnomAD |
|
rs758985738 CA35972438 |
32 | S>F | No |
ClinGen TOPMed gnomAD |
|
rs1558025851 CA344120503 |
34 | T>I | No |
ClinGen Ensembl |
|
CA1321747 rs565712809 |
35 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1321748 rs565712809 |
35 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
TCGA novel | 36 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1320588 | 38 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1242227998 CA344120433 |
38 | P>T | No |
ClinGen gnomAD |
|
rs1293380136 CA344120331 |
44 | K>R | No |
ClinGen gnomAD |
|
rs762383604 CA1321744 |
47 | A>V | No |
ClinGen ExAC gnomAD |
|
rs1348581247 CA344120210 |
49 | T>I | No |
ClinGen gnomAD |
|
rs1348581247 CA344120207 |
49 | T>N | No |
ClinGen gnomAD |
|
rs764651949 CA35972420 |
51 | D>E | No |
ClinGen TOPMed gnomAD |
|
CA344120086 rs1165774872 |
55 | D>E | No |
ClinGen gnomAD |
|
rs376966681 CA344120092 |
55 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
CA1321740 rs376966681 |
55 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
CA344120040 rs1339896138 |
58 | T>S | No |
ClinGen TOPMed |
|
rs1362104291 CA344120036 |
59 | W>R | No |
ClinGen gnomAD |
|
COSM1127191 COSM4876650 |
62 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA1321738 rs746986910 |
63 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA35972400 rs912118630 |
64 | Y>* | No |
ClinGen TOPMed gnomAD |
|
rs755110188 CA1321736 |
66 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs374878271 CA1321735 |
68 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1321734 rs780281131 |
69 | S>R | No |
ClinGen ExAC gnomAD |
|
rs750591931 CA1321733 |
72 | I>M | No |
ClinGen ExAC gnomAD |
|
rs781638599 CA1321731 |
73 | E>K | No |
ClinGen ExAC gnomAD |
|
rs757523921 CA1321730 |
74 | G>A | No |
ClinGen ExAC gnomAD |
|
rs1239756217 CA344119856 |
75 | C>G | No |
ClinGen gnomAD |
|
CA35972369 rs375409133 |
76 | F>C | No |
ClinGen ESP TOPMed gnomAD |
|
rs371235927 CA1321728 |
77 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1321727 rs763437965 |
78 | G>V | No |
ClinGen ExAC gnomAD |
|
rs764621053 CA1321725 |
79 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 80 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1158062077 CA344119741 |
81 | A>G | No |
ClinGen gnomAD |
|
CA1321724 rs759281080 |
82 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
TCGA novel | 83 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 83 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1454078531 CA344119682 |
87 | G>R | No |
ClinGen gnomAD |
|
COSM6123694 COSM6123695 |
88 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1225831423 CA344119050 COSM902052 COSM4866431 |
89 | T>M | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
TCGA novel | 90 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 91 | A>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
CA1321694 rs747201044 COSM240404 |
92 | G>R | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs372348797 CA1321692 |
94 | T>S | No |
ClinGen ESP ExAC |
|
COSM3481382 COSM4904044 |
97 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs765944215 CA1321690 |
97 | M>V | No |
ClinGen ExAC gnomAD |
|
rs754527351 CA1321689 |
99 | T>A | No |
ClinGen ExAC gnomAD |
|
rs1175939787 CA344118762 |
99 | T>I | No |
ClinGen gnomAD |
|
TCGA novel | 100 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM1337763 COSM4784171 |
103 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs753342023 CA1321688 |
105 | T>A | No |
ClinGen ExAC gnomAD |
|
rs150551633 CA1321687 |
105 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs140589352 CA1321685 |
106 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1321683 rs761636522 |
107 | E>D | No |
ClinGen ExAC gnomAD |
|
CA35971942 rs890787236 |
109 | E>G | No |
ClinGen TOPMed |
|
COSM4026863 COSM4026864 |
109 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1485965385 CA344118321 |
113 | I>V | No |
ClinGen gnomAD |
|
CA1321682 rs369827699 |
114 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
CA1321681 rs369827699 |
114 | P>Q | No |
ClinGen ESP ExAC gnomAD |
|
CA344118267 rs1306746485 |
115 | R>K | No |
ClinGen gnomAD |
|
CA35971929 rs374795746 |
116 | A>T | No |
ClinGen ESP gnomAD |
|
rs922165535 CA35971923 |
118 | A>G | No |
ClinGen TOPMed |
|
rs770974908 COSM3803423 CA1321678 COSM209457 |
118 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine prostate breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs773381121 CA1321676 |
120 | L>F | No |
ClinGen ExAC gnomAD |
|
COSM902050 COSM4871096 |
120 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344118088 rs1172107154 |
122 | G>R | No |
ClinGen TOPMed |
|
rs1315405620 CA344118058 |
123 | G>D | No |
ClinGen gnomAD |
|
rs779319005 CA1321674 |
125 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321673 rs779319005 |
125 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344117998 rs749783399 |
126 | E>K | No |
ClinGen ExAC gnomAD |
|
rs749783399 CA1321671 |
126 | E>Q | No |
ClinGen ExAC gnomAD |
|
COSM3746718 CA1321670 rs745970550 |
127 | R>C | liver Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
CA1321669 rs142552201 |
127 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1321668 rs371216148 |
128 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs767222970 CA1321667 |
128 | K>R | No |
ClinGen ExAC gnomAD |
|
rs756959465 CA1321666 |
129 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321665 rs751378411 |
129 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
COSM6123697 COSM6123696 |
130 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs368134803 COSM1255821 CA1321663 |
130 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
CA1321664 rs763920274 |
130 | R>W | No |
ClinGen ExAC gnomAD |
|
CA1321662 rs141541631 |
131 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
CA344117833 rs1310662037 |
132 | Q>H | No |
ClinGen TOPMed |
|
CA1321661 rs142277557 |
132 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1017818410 CA35971819 |
134 | Q>K | No |
ClinGen Ensembl |
|
CA1321659 rs773434079 |
135 | G>D | No |
ClinGen ExAC gnomAD |
|
CA1321660 rs538789987 |
135 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs371110975 CA1321657 |
136 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1391879484 CA344117699 |
137 | A>V | No |
ClinGen gnomAD |
|
rs1461619167 CA344117690 |
138 | G>E | No |
ClinGen TOPMed gnomAD |
|
rs1324852358 CA344117691 |
138 | G>R | No |
ClinGen gnomAD |
|
CA1321656 rs774615602 |
140 | E>A | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 140 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA344117559 rs1558024896 |
141 | F>L | No |
ClinGen Ensembl |
|
rs372026817 CA1321655 |
144 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1321653 rs368704611 |
145 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA35971762 rs896277805 |
145 | A>V | No |
ClinGen gnomAD |
|
COSM3481381 COSM4893488 |
149 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA35969226 rs905642139 |
150 | L>P | No |
ClinGen TOPMed |
|
CA35969222 rs57838980 |
152 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs202167673 CA35969224 |
152 | N>S | No |
ClinGen Ensembl |
|
rs948674050 CA35969203 |
154 | E>D | No |
ClinGen Ensembl |
|
rs1299490919 CA344116110 |
154 | E>G | No |
ClinGen gnomAD |
|
TCGA novel | 156 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA344116030 rs1571956668 |
157 | D>A | No |
ClinGen Ensembl |
|
rs1370253259 CA344115956 |
160 | D>Y | No |
ClinGen TOPMed |
|
COSM902049 COSM4872636 |
161 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs780898657 COSM3728141 CA1321632 |
162 | T>N | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs1571956640 CA344115920 |
162 | T>P | No |
ClinGen Ensembl |
|
rs1174051997 CA344115881 |
163 | R>C | No |
ClinGen gnomAD |
|
CA1321631 rs574223570 |
163 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1174051997 COSM1500503 CA344115887 COSM6123699 COSM6123698 |
163 | R>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs746670892 CA1321630 |
164 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777415452 CA1321629 |
165 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777415452 CA344115828 |
165 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752543544 CA1321627 |
167 | T>I | No |
ClinGen ExAC gnomAD |
|
CA344115761 rs1571956574 |
167 | T>P | No |
ClinGen Ensembl |
|
CA1321626 rs778672911 |
168 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321625 rs754943866 |
168 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs754943866 CA344115732 |
168 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs753749629 CA1321624 |
170 | R>C | No |
ClinGen ExAC |
|
CA1321623 rs201113105 |
170 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs201113105 CA344115678 |
170 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA344115670 rs1282935526 |
171 | R>K | No |
ClinGen TOPMed gnomAD |
|
rs1212089147 CA344115660 |
172 | S>P | No |
ClinGen gnomAD |
|
CA35969105 rs868128266 |
178 | E>K | No |
ClinGen gnomAD |
|
rs751746820 CA1321621 |
179 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321619 rs763083427 |
179 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344115494 rs751746820 |
179 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776039428 CA344115458 |
180 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs776039428 CA1321618 |
180 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs139624974 CA1321617 |
181 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA344115386 rs1313449503 |
182 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs777236820 CA1321615 |
183 | G>D | No |
ClinGen ExAC gnomAD |
|
rs1462024814 CA344115260 |
186 | T>S | No |
ClinGen TOPMed |
|
CA344115246 rs1295545154 |
187 | T>I | No |
ClinGen TOPMed |
|
rs771821901 CA1321611 |
189 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771821901 CA344115223 |
189 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747765335 CA344115169 |
190 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321610 rs747765335 |
190 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs778836144 CA35969060 |
191 | S>C | No |
ClinGen TOPMed |
|
CA35969056 rs778836144 |
191 | S>F | No |
ClinGen TOPMed |
|
CA1321609 COSM4905610 COSM3481378 rs778724409 |
192 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
CA1321608 rs754732012 COSM4026860 COSM4026859 |
192 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
TCGA novel | 194 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1326854066 CA344115071 |
194 | I>M | No |
ClinGen Ensembl |
|
rs1426068839 CA344115019 |
195 | H>Q | No |
ClinGen gnomAD |
|
CA1321607 rs141640757 |
195 | H>Y | No |
ClinGen ESP ExAC |
|
rs987054249 CA35969035 |
196 | S>P | No |
ClinGen Ensembl |
|
CA344114954 rs954474230 |
198 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs1246329410 CA344114945 |
199 | E>K | No |
ClinGen TOPMed |
|
CA344114824 rs1480284054 |
200 | L>M | No |
ClinGen gnomAD |
|
TCGA novel | 201 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs747818334 CA344114720 |
203 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321592 rs747818334 |
203 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1467750198 CA344114667 |
205 | K>N | No |
ClinGen gnomAD |
|
rs375811791 CA35968912 |
206 | Q>* | No |
ClinGen ESP TOPMed |
|
CA344114650 rs1571956158 |
206 | Q>R | No |
ClinGen Ensembl |
|
CA1321590 rs768455687 |
208 | A>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 208 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA344114571 rs1260036392 |
210 | S>Y | No |
ClinGen gnomAD |
|
rs1378904806 CA344114554 COSM4781928 COSM3400186 |
211 | R>C | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs756118030 CA1321588 |
211 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321587 rs756118030 |
211 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344114506 rs1370448336 |
214 | A>D | No |
ClinGen gnomAD |
|
rs1438986304 CA344114509 |
214 | A>T | No |
ClinGen gnomAD |
|
TCGA novel | 215 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA1321586 rs745771628 |
217 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 217 | Q>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs777932365 CA1321585 |
219 | N>S | No |
ClinGen ExAC gnomAD |
|
CA1321583 rs147387128 |
220 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA344114249 rs1420827272 |
224 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA344114245 rs1382624794 |
224 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
COSM6123700 COSM6123701 |
224 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM4906208 COSM3481377 |
225 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA1321582 rs765495506 |
225 | S>P | No |
ClinGen ExAC gnomAD |
|
rs200374473 CA344114191 |
226 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM4026857 COSM4026858 rs1200416395 CA344114190 |
227 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
CA344114181 rs1444824304 |
227 | A>V | No |
ClinGen gnomAD |
|
rs1438761868 CA344114148 |
229 | F>S | No |
ClinGen Ensembl |
|
CA1321580 rs754294777 |
231 | I>V | No |
ClinGen ExAC gnomAD |
|
CA1321579 rs139587088 |
232 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs755531305 CA1321578 |
236 | M>R | No |
ClinGen ExAC gnomAD |
|
CA1321577 rs773539819 |
237 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321576 rs767082564 |
237 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344114014 COSM400944 rs767082564 |
237 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
rs773539819 CA344114027 |
237 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321575 rs761258584 |
239 | C>R | No |
ClinGen ExAC gnomAD |
|
rs201594775 CA1321573 |
240 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1317720189 CA344113913 |
241 | Q>R | No |
ClinGen gnomAD |
|
TCGA novel | 243 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA1321570 rs151270657 |
243 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA1321569 rs201624271 |
244 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1336478996 CA344113017 |
245 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA1321552 rs759901677 |
248 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1571955379 CA344112944 |
249 | V>G | No |
ClinGen Ensembl |
|
CA1321550 rs769636295 |
249 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1284855658 CA344112890 |
251 | G>E | No |
ClinGen TOPMed |
|
CA344112809 rs924771118 |
254 | D>A | No |
ClinGen gnomAD |
|
CA35968448 rs924771118 |
254 | D>G | No |
ClinGen gnomAD |
|
COSM3864069 COSM3864068 |
254 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs776472486 CA1321547 |
255 | G>S | No |
ClinGen ExAC gnomAD |
|
CA1321546 rs143968787 |
256 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
rs1199476738 CA344112679 |
257 | P>L | No |
ClinGen gnomAD |
|
rs746912144 CA1321545 |
257 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746912144 CA344112708 |
257 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs971598271 CA35968426 |
258 | P>A | No |
ClinGen gnomAD |
|
rs779179528 CA1321544 |
258 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs971598271 CA344112676 |
258 | P>T | No |
ClinGen gnomAD |
|
rs141814113 CA1321543 |
259 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM1473248 COSM4813857 |
259 | S>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344112625 rs1485307904 |
260 | S>G | No |
ClinGen TOPMed |
|
CA1321540 rs756349092 |
261 | E>D | No |
ClinGen ExAC gnomAD |
|
rs750824129 CA1321539 |
262 | Y>H | No |
ClinGen ExAC gnomAD |
|
rs1156271004 CA344112494 |
263 | E>A | No |
ClinGen gnomAD |
|
CA1321538 rs781508741 |
265 | L>F | No |
ClinGen ExAC gnomAD |
|
COSM4897412 COSM3481376 |
275 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM424990 COSM4813336 |
277 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344112076 rs1167009890 |
279 | R>Q | No |
ClinGen TOPMed |
|
COSM4026856 COSM1337762 |
279 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344112034 rs1163495836 |
282 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
COSM4399199 COSM4399198 |
282 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA1321533 rs752406293 |
287 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
rs530526185 CA1321532 |
288 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA35968395 rs916957778 |
288 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA344111851 rs766937251 |
289 | R>L | No |
ClinGen ExAC gnomAD |
|
CA1321531 rs766937251 |
289 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA344111853 rs1459259252 |
289 | R>W | No |
ClinGen gnomAD |
|
CA344111833 rs1571955102 |
290 | A>G | No |
ClinGen Ensembl |
|
COSM3481375 COSM4905756 |
295 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA1321528 rs760706406 |
295 | S>Y | No |
ClinGen ExAC |
|
CA1321527 rs761122837 |
298 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM4937018 COSM4937019 |
303 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 304 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1188810723 CA344111237 |
306 | V>M | No |
ClinGen gnomAD |
|
rs148716604 CA1321481 |
308 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA1321479 rs182269799 |
309 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
rs1183938960 CA344111166 |
309 | A>V | No |
ClinGen gnomAD |
|
CA344111160 rs1239527134 |
310 | L>S | No |
ClinGen gnomAD |
|
TCGA novel | 311 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA1321478 rs773498487 |
312 | D>N | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 313 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA1321477 rs368047749 |
314 | S>I | No |
ClinGen ESP ExAC gnomAD |
|
CA344110986 rs1314921136 |
317 | V>A | No |
ClinGen gnomAD |
|
rs148683091 CA1321475 |
320 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1333495477 CA344110888 |
321 | P>L | No |
ClinGen gnomAD |
|
CA344110855 rs1482276187 |
322 | Y>F | No |
ClinGen TOPMed |
|
CA344110818 rs1385194867 |
323 | R>K | No |
ClinGen gnomAD |
|
rs1182142756 CA344110672 |
327 | L>V | No |
ClinGen TOPMed |
|
CA35968024 rs866691072 |
329 | R>L | No |
ClinGen gnomAD |
|
CA344110599 rs866691072 |
329 | R>Q | No |
ClinGen gnomAD |
|
rs1044443554 CA35968031 |
329 | R>W | No |
ClinGen TOPMed |
|
CA1321473 rs748862435 |
330 | L>I | No |
ClinGen ExAC gnomAD |
|
rs948708465 CA35968015 |
332 | Q>* | No |
ClinGen TOPMed gnomAD |
|
rs948708465 CA344110529 |
332 | Q>K | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 334 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs778434242 COSM1290084 |
337 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
COSM5832456 rs778434242 COSM5832455 |
338 | N>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
COSM4867684 COSM902046 |
340 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM4891810 COSM3481374 rs1262345783 CA344110130 |
341 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
CA344110113 rs1217191306 |
342 | I>T | No |
ClinGen gnomAD |
|
CA344110044 rs528121290 |
344 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM902045 CA1321457 rs774564420 COSM4228990 |
345 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA344110013 rs1344563832 |
346 | C>R | No |
ClinGen gnomAD |
|
CA344109841 rs1338472230 |
351 | D>V | No |
ClinGen gnomAD |
|
COSM4874819 COSM902044 |
351 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344109830 rs1320150740 |
352 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
CA1321454 rs779737040 |
352 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344109545 rs1362848044 |
361 | L>F | No |
ClinGen gnomAD |
|
CA35967746 rs767565146 |
362 | K>R | No |
ClinGen Ensembl |
|
CA1321451 rs780840244 |
365 | N>S | No |
ClinGen ExAC gnomAD |
|
rs1402440194 CA344109391 |
366 | R>Q | No |
ClinGen gnomAD |
|
COSM4860574 COSM678219 rs1250955515 CA344109395 |
366 | R>W | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
CA344109371 rs1173856202 |
367 | A>D | No |
ClinGen gnomAD |
|
CA344109354 rs1476570625 |
368 | R>C | No |
ClinGen gnomAD |
|
rs756847786 CA1321450 |
368 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344109221 rs1160783075 |
372 | N>D | No |
ClinGen TOPMed |
|
COSM71340 | 373 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344109151 rs1194314570 |
374 | V>L | No |
ClinGen gnomAD |
|
CA344109147 rs1194314570 |
374 | V>M | No |
ClinGen gnomAD |
|
rs1571953395 CA344109051 |
377 | N>T | No |
ClinGen Ensembl |
|
CA1321448 rs777397981 |
378 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1186553752 CA344108933 |
380 | K>N | No |
ClinGen gnomAD |
|
CA344108911 rs1404410053 |
381 | T>I | No |
ClinGen TOPMed |
|
rs758378325 CA1321447 |
381 | T>P | No |
ClinGen ExAC gnomAD |
|
rs376452020 CA1321446 |
382 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs766476616 CA1321445 |
384 | Q>* | No |
ClinGen ExAC gnomAD |
|
CA1321443 rs750620669 |
384 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs756116786 CA1321444 |
384 | Q>R | No |
ClinGen ExAC gnomAD |
|
rs767835185 CA1321442 |
385 | I>M | No |
ClinGen ExAC gnomAD |
|
rs761934289 CA1321441 |
386 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM4873294 COSM902043 |
387 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1341401396 CA344108670 |
389 | R>Q | No |
ClinGen gnomAD |
|
CA1321440 rs774829992 |
389 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763589449 CA1321438 |
392 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321439 rs764507630 |
392 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1467167007 CA344108587 |
394 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs769442976 CA1321436 |
394 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344108536 rs1162544488 |
397 | M>V | No |
ClinGen gnomAD |
|
CA344108450 rs1473016933 |
399 | L>V | No |
ClinGen gnomAD |
|
CA344108409 rs1323330319 |
400 | M>I | No |
ClinGen TOPMed |
|
COSM4228987 COSM2211769 rs371524692 |
404 | A>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
rs1558019653 CA344108286 |
404 | A>T | No |
ClinGen Ensembl |
|
rs746619358 CA1321432 |
404 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs920356156 CA35966931 |
405 | G>D | No |
ClinGen TOPMed gnomAD |
|
CA1321395 rs765914389 |
407 | R>* | No |
ClinGen ExAC gnomAD |
|
CA1321394 rs373690387 |
407 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
rs772695028 CA1321393 |
411 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321391 rs142774440 |
412 | D>N | No |
ClinGen ESP ExAC TOPMed |
|
TCGA novel | 413 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA344106763 rs1339999376 |
414 | A>T | No |
ClinGen TOPMed |
|
CA1321389 rs768297694 |
416 | G>S | No |
ClinGen ExAC gnomAD |
|
CA344106652 rs1571951529 |
418 | S>N | No |
ClinGen Ensembl |
|
rs772692795 CA1321388 |
421 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA35966878 rs140412174 |
422 | R>* | No |
ClinGen ESP |
|
rs771634893 CA35966874 |
422 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771634893 CA1321387 |
422 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 423 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs747155865 CA1321385 |
426 | M>V | No |
ClinGen ExAC gnomAD |
|
CA1321383 rs758745163 |
428 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs563360685 CA344106283 |
429 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA344106172 rs1357614372 |
435 | R>Q | No |
ClinGen gnomAD |
|
CA1321380 rs755226578 |
435 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
CA1321378 rs199512300 |
437 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs937853917 CA35966834 |
437 | R>W | No |
ClinGen Ensembl |
|
rs1571951378 CA344106108 |
438 | V>G | No |
ClinGen Ensembl |
|
rs1241827924 CA344106132 |
438 | V>M | No |
ClinGen TOPMed |
|
rs1476058834 CA344106082 |
439 | K>T | No |
ClinGen TOPMed |
|
CA1321377 rs766852362 |
440 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1431469227 CA344106000 CA344106004 |
441 | M>I | No |
ClinGen gnomAD |
|
CA344105953 rs1192135354 |
442 | Q>L | No |
ClinGen gnomAD |
|
TCGA novel | 445 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA1321375 COSM1738494 rs200299912 |
445 | I>M | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
CA344105857 rs1170147175 |
445 | I>N | No |
ClinGen TOPMed |
|
rs1188630831 CA344105814 |
446 | D>G | No |
ClinGen gnomAD |
|
CA35966798 rs866076396 |
446 | D>N | No |
ClinGen TOPMed gnomAD |
|
CA1321373 rs761485852 |
449 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773928737 CA1321372 |
451 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773928737 CA344105601 |
451 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs953396132 COSM5004691 COSM5004692 CA35966783 |
451 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
CA1321371 rs369897745 |
452 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
TCGA novel | 454 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
CA1321370 rs149557382 |
454 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM3864067 COSM3864066 rs963601591 CA35966734 |
456 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
rs1378112265 CA344105518 |
456 | M>T | No |
ClinGen gnomAD |
|
CA1321368 rs769663553 |
456 | M>V | No |
ClinGen ExAC gnomAD |
|
CA1321366 rs773445211 |
457 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321367 rs773445211 |
457 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344105497 rs1408476064 |
458 | Q>E | No |
ClinGen gnomAD |
|
rs1264383785 CA344105493 |
458 | Q>R | No |
ClinGen TOPMed |
|
rs772235540 CA1321365 |
461 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA344105411 rs1326653726 |
464 | L>V | No |
ClinGen TOPMed |
|
CA344105385 rs1173110225 |
465 | A>D | No |
ClinGen gnomAD |
|
COSM6123703 COSM6123702 |
465 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1167145203 CA344105397 |
465 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA344105364 rs1284086179 |
467 | A>T | No |
ClinGen TOPMed |
|
rs756451256 CA1321361 |
468 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344104547 rs758012354 |
469 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321335 COSM4143151 rs758012354 COSM4143150 |
469 | D>Y | thyroid [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA1321334 rs372391603 |
471 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1304885231 CA344104489 |
473 | A>V | No |
ClinGen TOPMed |
|
rs765125044 CA1321333 |
474 | I>V | No |
ClinGen ExAC gnomAD |
|
rs778478640 CA1321332 |
476 | A>S | No |
ClinGen ExAC gnomAD |
|
rs778478640 CA35965579 |
476 | A>T | No |
ClinGen ExAC gnomAD |
|
CA1321331 rs776549894 |
476 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774342632 CA1321328 |
478 | I>S | No |
ClinGen ExAC gnomAD |
|
rs1282908635 CA344104448 |
478 | I>V | No |
ClinGen TOPMed |
|
CA1321327 rs768730594 |
479 | Q>R | No |
ClinGen ExAC |
|
CA1321326 rs763091394 |
480 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344104431 rs763091394 |
480 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs376885029 CA1321325 |
480 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1321323 rs781508849 |
483 | R>L | No |
ClinGen ExAC gnomAD |
|
rs781508849 CA1321322 |
483 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1333881054 CA344104355 |
484 | E>D | No |
ClinGen gnomAD |
|
COSM133989 | 486 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344104303 rs1196100059 |
488 | L>Q | No |
ClinGen gnomAD |
|
TCGA novel | 489 | R>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 489 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1177946556 CA344104089 |
494 | E>K | No |
ClinGen gnomAD |
|
CA35965313 rs145642006 |
497 | A>V | No |
ClinGen ESP TOPMed gnomAD |
|
COSM1285780 | 498 | M>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1175085100 CA344103938 |
499 | N>S | No |
ClinGen TOPMed |
|
CA344103929 COSM2211759 COSM4228976 rs1168380341 |
500 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
CA1321292 rs750173633 |
501 | S>A | No |
ClinGen ExAC gnomAD |
|
CA1321290 rs761625663 |
501 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321291 rs761625663 |
501 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs752827586 CA1321289 |
502 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321288 rs765256319 |
504 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344103822 rs1243878342 |
504 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA344103830 rs1243878342 |
504 | R>L | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 505 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1205610406 CA344103809 |
505 | S>N | No |
ClinGen gnomAD |
|
CA344103771 rs1558017022 |
508 | R>Q | No |
ClinGen Ensembl |
|
CA35965268 rs1053127686 |
508 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
CA35965267 rs764127649 |
510 | S>L | No |
ClinGen gnomAD |
|
CA1321285 rs766663215 |
511 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321284 rs761156956 |
512 | R>G | No |
ClinGen ExAC |
|
COSM3481368 COSM4891823 |
512 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344103627 CA35965262 rs906732901 |
513 | S>R | No |
ClinGen TOPMed gnomAD |
|
COSM3481367 COSM4905488 |
514 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344103616 rs1332518372 |
514 | P>S | No |
ClinGen Ensembl |
|
CA344103583 rs1338251233 |
516 | S>T | No |
ClinGen TOPMed gnomAD |
|
CA344103546 rs1443968197 |
517 | L>R | No |
ClinGen gnomAD |
|
COSM6060591 COSM6060592 |
517 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1558016958 COSM531893 COSM6060594 CA344103524 COSM6060593 |
519 | A>S | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic Ensembl NCI-TCGA |
CA1321283 rs773441238 |
520 | S>F | No |
ClinGen ExAC gnomAD |
|
CA1321281 rs748641857 |
521 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs772671705 CA1321282 |
521 | P>S | No |
ClinGen ExAC gnomAD |
|
COSM6123705 rs774020793 COSM1500506 CA1321280 COSM6123704 |
522 | A>T | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
COSM4813696 COSM424988 CA35965243 rs866365757 |
523 | A>T | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
CA1321277 rs779815267 |
523 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344103457 rs1380566315 |
524 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs903755696 CA35965236 |
524 | P>S | No |
ClinGen TOPMed |
|
rs1456511036 CA344103450 |
525 | A>T | No |
ClinGen gnomAD |
|
CA344103435 rs1245146287 |
525 | A>V | No |
ClinGen TOPMed |
|
rs1232308155 CA344103400 |
526 | F>C | No |
ClinGen gnomAD |
|
rs745715373 CA1321275 |
527 | G>E | No |
ClinGen ExAC gnomAD |
|
rs1440043506 CA344103397 CA344103395 |
527 | G>R | No |
ClinGen gnomAD |
|
TCGA novel | 528 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
CA1321274 rs780827690 |
528 | G>V | No |
ClinGen ExAC gnomAD |
|
rs757244028 CA1321273 |
529 | S>T | No |
ClinGen ExAC gnomAD |
|
CA344103342 rs1316737348 |
530 | P>H | No |
ClinGen gnomAD |
|
TCGA novel | 530 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA344103312 rs1237426941 |
531 | A>V | No |
ClinGen gnomAD |
|
rs1279620644 CA344103303 |
532 | S>N | No |
ClinGen TOPMed gnomAD |
|
rs1279620644 CA344103300 |
532 | S>T | No |
ClinGen TOPMed gnomAD |
|
CA344103285 rs1444354136 |
533 | S>C | No |
ClinGen gnomAD |
|
CA1321271 rs371947852 |
536 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1321272 rs371947852 |
536 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1425088757 CA344103210 |
537 | A>S | No |
ClinGen gnomAD |
|
CA344103194 rs1165706574 |
538 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA344103159 rs1571948119 |
540 | V>G | No |
ClinGen Ensembl |
|
CA1321266 rs760774571 |
542 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1471463401 CA344103139 |
542 | R>H | No |
ClinGen TOPMed gnomAD |
|
CA344103132 rs1471463401 |
542 | R>L | No |
ClinGen TOPMed gnomAD |
|
CA35965182 rs929639316 |
543 | R>S | No |
ClinGen TOPMed |
|
rs1245509885 CA344103126 |
543 | R>T | No |
ClinGen gnomAD |
|
CA344103046 rs1490617938 |
547 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
COSM4026855 COSM4026854 |
549 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA1321264 rs767724966 |
550 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321265 rs767724966 |
550 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767724966 CA344103008 |
550 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344103010 COSM1639676 rs1294401570 |
550 | R>W | stomach [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs1225001720 CA344102974 |
552 | K>N | No |
ClinGen TOPMed gnomAD |
|
rs975078674 CA35965167 |
554 | K>E | No |
ClinGen TOPMed |
|
rs1571947957 CA344102911 |
556 | V>G | No |
ClinGen Ensembl |
|
rs1284730184 CA344102926 |
556 | V>I | No |
ClinGen TOPMed |
|
CA344102879 rs1347239507 |
558 | Q>H | No |
ClinGen gnomAD |
|
COSM4026853 rs748876558 COSM4026852 CA1321259 |
559 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
CA1321260 rs762774383 |
559 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321258 COSM3481365 rs774832342 COSM4899390 |
560 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs1160049458 CA344102852 |
561 | K>R | No |
ClinGen gnomAD |
|
CA344102725 rs1226526071 |
562 | S>R | No |
ClinGen TOPMed gnomAD |
|
CA344102708 rs1198209870 |
563 | P>L | No |
ClinGen TOPMed |
|
CA1321237 rs760922988 |
564 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs776092158 CA1321236 |
565 | K>N | No |
ClinGen ExAC gnomAD |
|
CA344102668 rs1297441204 |
565 | K>R | No |
ClinGen gnomAD |
|
CA1321235 rs770560122 |
567 | A>V | No |
ClinGen ExAC gnomAD |
|
rs746870457 CA1321234 |
572 | A>E | No |
ClinGen ExAC gnomAD |
|
COSM1473247 COSM4813837 |
572 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344102470 rs746870457 |
572 | A>V | No |
ClinGen ExAC gnomAD |
|
RCV000522620 rs1553240713 |
573 | K>missing | No |
ClinVar dbSNP |
|
CA35964643 rs865942025 |
575 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
rs998012701 CA35964641 |
576 | Q>H | No |
ClinGen TOPMed gnomAD |
|
rs1255388970 CA344102302 |
578 | N>K | No |
ClinGen TOPMed |
|
CA35964621 rs773684942 |
579 | S>N | No |
ClinGen gnomAD |
|
rs1023850106 COSM902041 CA35964605 COSM4863321 |
580 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
CA35964601 rs553956181 |
582 | T>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA344102223 rs553956181 |
582 | T>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
CA344102143 rs1421729264 |
586 | E>K | No |
ClinGen TOPMed gnomAD |
|
CA344102140 rs1421729264 |
586 | E>Q | No |
ClinGen TOPMed gnomAD |
|
CA1321229 rs151003945 |
587 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs151003945 CA1321230 |
587 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1321226 rs757523345 |
589 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1336287498 CA344102076 |
589 | E>K | No |
ClinGen TOPMed |
|
CA344101928 rs1480060106 |
593 | E>K | No |
ClinGen gnomAD |
|
rs758635507 COSM4026848 COSM4026849 CA1321205 |
594 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
rs758635507 CA1321206 |
594 | R>G | No |
ClinGen ExAC gnomAD |
|
CA1321203 rs373134245 |
594 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1321204 COSM4877355 COSM4877354 rs373134245 |
594 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
CA344101886 rs755476544 |
595 | D>E | No |
ClinGen ExAC gnomAD |
|
rs753390486 CA1321201 |
596 | E>A | No |
ClinGen ExAC gnomAD |
|
COSM1255820 rs892966441 COSM4894611 CA35964200 |
596 | E>K | Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs892966441 CA35964202 |
596 | E>Q | No |
ClinGen TOPMed gnomAD |
|
rs1053323751 CA35964193 |
597 | S>G | No |
ClinGen TOPMed gnomAD |
|
rs574138491 CA1321200 |
599 | C>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs554311091 CA1321199 |
600 | E>G | No |
ClinGen 1000Genomes ExAC |
|
CA1321198 rs772782924 |
601 | E>G | No |
ClinGen ExAC |
|
CA1321197 rs767312769 |
602 | E>G | No |
ClinGen ExAC |
|
COSM4399001 COSM3481363 |
602 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM6123708 COSM6123709 |
603 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344101700 rs1222279062 |
603 | E>Q | No |
ClinGen gnomAD |
|
CA1321196 rs761570467 |
604 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774166442 COSM4026847 COSM4026846 CA1321195 |
605 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
CA1321194 rs147761216 |
605 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA344101632 rs771070541 |
606 | E>D | No |
ClinGen ExAC gnomAD |
|
CA1321192 rs200764096 |
606 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321193 rs200764096 |
606 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321190 rs747249886 |
607 | D>N | No |
ClinGen ExAC gnomAD |
|
CA1321189 rs778202622 |
607 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs868484306 COSM4531770 CA35964150 COSM3481362 |
608 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA |
rs779310643 CA1321186 |
612 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs779310643 CA1321187 |
612 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM902040 CA35964091 rs377169350 COSM4873165 |
616 | E>D | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic ClinGen cosmic curated Ensembl |
rs1474311296 CA344101378 |
618 | L>M | No |
ClinGen gnomAD |
|
CA344101362 rs1192827651 |
619 | V>A | No |
ClinGen gnomAD |
|
rs140372625 CA1321184 |
619 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs755560786 CA1321182 |
620 | D>G | No |
ClinGen ExAC gnomAD |
|
rs767140551 CA1321181 |
622 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767140551 CA1321180 |
622 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs761504727 CA1321179 |
624 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344101275 rs1558015501 |
624 | D>N | No |
ClinGen Ensembl |
|
rs1264325176 CA344101259 |
625 | P>A | No |
ClinGen gnomAD |
|
CA35964086 COSM3481361 rs866579901 COSM4904107 |
625 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA |
CA1321177 rs763912127 |
626 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA1321175 rs775513951 |
627 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM4893614 COSM3481360 |
627 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA35964051 rs185829318 |
628 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs747157519 CA1321173 |
629 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs747157519 CA344101169 |
629 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1359670989 CA344148861 |
631 | N>D | No |
ClinGen gnomAD |
|
CA35998341 rs1051364011 |
631 | N>S | No |
ClinGen gnomAD |
|
CA344148817 rs1168729002 |
632 | F>S | No |
ClinGen TOPMed gnomAD |
|
CA1321146 rs780574108 |
632 | F>V | No |
ClinGen ExAC gnomAD |
|
rs756736149 COSM4228955 CA1321145 COSM2211738 |
634 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
CA344148711 rs921471066 |
637 | A>S | No |
ClinGen TOPMed |
|
CA35998321 rs921471066 |
637 | A>T | No |
ClinGen TOPMed |
|
rs752592969 CA1321141 |
637 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
CA1321139 rs759573082 |
638 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344148645 rs1399036374 |
639 | L>V | No |
ClinGen gnomAD |
|
CA344148607 rs1159720557 |
640 | T>I | No |
ClinGen gnomAD |
|
rs767504399 CA1321137 |
640 | T>S | No |
ClinGen ExAC gnomAD |
|
CA1321136 rs762009457 |
641 | C>F | No |
ClinGen ExAC gnomAD |
|
CA344148597 rs1571944156 |
641 | C>R | No |
ClinGen Ensembl |
|
COSM3864064 COSM3864063 rs267598289 CA35998276 |
644 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
rs1191326083 CA344148468 |
645 | I>S | No |
ClinGen TOPMed |
|
COSM6123711 COSM6123710 |
649 | L>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344148265 rs1478514074 |
649 | L>V | No |
ClinGen gnomAD |
|
rs768598383 CA35998275 |
650 | I>F | No |
ClinGen Ensembl |
|
COSM3789317 COSM3789316 |
650 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM424987 COSM4812816 |
650 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs186282104 CA35998241 |
651 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs186282104 CA1321134 |
651 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
COSM3481358 COSM4891889 |
652 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs775864023 CA1321132 |
652 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA344148011 rs1248412746 |
656 | S>T | No |
ClinGen TOPMed gnomAD |
|
CA344147942 rs1321292382 |
657 | Q>H | No |
ClinGen gnomAD |
|
rs145622369 CA1321130 |
658 | R>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
CA35998236 rs971057642 |
658 | R>W | No |
ClinGen Ensembl |
|
rs1369385489 CA344147887 |
659 | R>L | No |
ClinGen gnomAD |
|
COSM382643 COSM4865506 rs780140610 CA35998227 |
659 | R>W | lung Variant assessed as Somatic; MODERATE impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs777255666 CA1321129 |
660 | L>V | No |
ClinGen ExAC gnomAD |
|
CA1321128 rs771341010 |
662 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1427696752 CA344147540 |
667 | Y>C | No |
ClinGen gnomAD |
|
rs1480971608 CA344147567 |
667 | Y>H | No |
ClinGen gnomAD |
|
CA35998207 rs991396176 |
668 | E>Q | No |
ClinGen Ensembl |
|
rs1184472653 CA344147460 |
669 | E>G | No |
ClinGen gnomAD |
|
rs754759688 CA1321122 |
673 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1295678 COSM4812031 |
675 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344147097 rs1210316283 |
679 | R>* | No |
ClinGen TOPMed |
|
CA1321120 rs766404118 |
679 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs878964458 CA35998163 |
680 | D>G | No |
ClinGen Ensembl |
|
CA35998159 rs1027526288 |
682 | Q>R | No |
ClinGen TOPMed |
|
CA344146984 rs755974731 |
684 | E>* | No |
ClinGen ExAC gnomAD |
|
CA344146969 rs1486812123 |
684 | E>A | No |
ClinGen TOPMed |
|
rs755974731 CA1321119 |
684 | E>Q | No |
ClinGen ExAC gnomAD |
|
CA1321118 rs751709530 |
685 | R>C | No |
ClinGen ExAC gnomAD |
|
CA1321117 COSM1337758 rs764120600 COSM4786043 |
685 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
CA344146917 rs1361491079 |
686 | D>N | No |
ClinGen TOPMed gnomAD |
|
rs1437383996 CA344146884 |
687 | R>S | No |
ClinGen gnomAD |
|
rs765434108 CA1321114 |
689 | L>Q | No |
ClinGen ExAC gnomAD |
|
COSM6123712 COSM6123713 |
695 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA1321078 rs757157117 |
695 | M>T | No |
ClinGen ExAC gnomAD |
|
CA1321079 rs200201631 |
695 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 702 | K>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
CA344145317 rs1413960102 |
704 | N>K | No |
ClinGen gnomAD |
|
CA344145294 rs1490112238 |
705 | K>N | No |
ClinGen gnomAD |
|
CA344145313 rs1571940583 |
705 | K>Q | No |
ClinGen Ensembl |
|
rs752825828 CA1321076 |
705 | K>R | No |
ClinGen ExAC gnomAD |
|
CA344145161 rs1319152353 |
708 | A>V | No |
ClinGen TOPMed |
|
rs778918438 CA1321075 |
709 | D>G | No |
ClinGen ExAC |
|
rs543715577 CA1321073 |
712 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
CA1321072 rs766776053 |
713 | R>K | No |
ClinGen ExAC gnomAD |
|
CA344144904 rs921788932 |
715 | R>G | No |
ClinGen TOPMed gnomAD |
|
CA1321071 rs529917183 |
715 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs921788932 CA35997024 |
715 | R>W | No |
ClinGen TOPMed gnomAD |
|
rs1345199231 CA344144698 |
719 | R>L | No |
ClinGen TOPMed gnomAD |
|
rs1345199231 CA344144700 |
719 | R>Q | No |
ClinGen TOPMed gnomAD |
|
COSM4865654 COSM902038 |
719 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 720 | D>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
COSM282235 rs541186299 CA35996979 |
726 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes NCI-TCGA gnomAD |
rs1457276556 CA344144390 |
728 | Q>* | No |
ClinGen gnomAD |
|
TCGA novel | 728 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1377982256 CA344144137 |
732 | A>D | No |
ClinGen gnomAD |
|
CA1321064 rs777561377 |
732 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777561377 CA1321063 |
732 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321060 rs770880854 |
733 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs780946794 CA1321061 |
733 | R>W | No |
ClinGen ExAC gnomAD |
|
rs1465364740 CA344144041 |
735 | L>P | No |
ClinGen gnomAD |
|
CA344143940 rs1240133411 |
739 | S>L | No |
ClinGen TOPMed gnomAD |
|
CA1321057 rs200885893 COSM1639675 |
740 | R>C | stomach [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA344143917 rs753937959 COSM1581109 |
740 | R>H | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA1321056 rs753937959 |
740 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321054 rs750865418 |
742 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
rs767943202 CA1321053 |
743 | R>K | No |
ClinGen ExAC gnomAD |
|
rs1294351881 CA344143839 |
743 | R>S | No |
ClinGen gnomAD |
|
rs754739842 CA35996950 |
744 | E>K | No |
ClinGen TOPMed |
|
CA344143724 rs1435209966 |
748 | L>Q | No |
ClinGen gnomAD |
|
rs1334687647 CA344143704 |
749 | Q>R | No |
ClinGen gnomAD |
|
rs762441448 CA1321052 |
751 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs752055582 CA1321051 |
753 | A>T | No |
ClinGen ExAC gnomAD |
|
CA35996927 rs911900092 |
756 | K>R | No |
ClinGen TOPMed gnomAD |
|
rs764649455 CA1321050 |
758 | A>T | No |
ClinGen ExAC gnomAD |
|
rs1251525474 CA344141638 |
760 | V>L | No |
ClinGen gnomAD |
|
COSM6123716 COSM6123717 |
766 | M>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA1321031 rs764551376 |
766 | M>T | No |
ClinGen ExAC gnomAD |
|
CA344141482 rs1343815266 |
766 | M>V | No |
ClinGen gnomAD |
|
COSM1581108 CA1321030 rs184368767 |
767 | R>C | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
COSM4874451 CA344141443 rs1356366486 COSM902037 |
767 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
CA344141402 rs1442559720 |
768 | E>V | No |
ClinGen TOPMed gnomAD |
|
CA1321029 rs752174472 |
772 | R>Q | No |
ClinGen ExAC gnomAD |
|
CA344141331 rs1439917989 |
772 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA1321027 rs150040803 |
773 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs564603169 CA1321028 |
773 | R>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA344141265 rs756418278 |
774 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs756418278 CA1321025 |
774 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs146403487 CA1321026 |
774 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1216482497 CA344141252 |
775 | L>V | No |
ClinGen gnomAD |
|
rs760527078 CA1321024 |
776 | V>E | No |
ClinGen ExAC gnomAD |
|
rs1571934234 CA344141202 |
777 | E>G | No |
ClinGen Ensembl |
|
rs1165457029 CA344141185 COSM369539 |
778 | T>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
CA1321023 rs773026448 |
779 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1411736888 CA344141097 |
781 | N>D | No |
ClinGen gnomAD |
|
rs959484745 CA35994190 |
781 | N>K | No |
ClinGen TOPMed gnomAD |
|
rs1266346444 CA344141048 |
782 | R>Q | No |
ClinGen TOPMed gnomAD |
|
rs771950376 CA1321022 |
782 | R>W | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 783 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
CA35994174 rs775462491 |
785 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775462491 CA1321020 |
785 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321019 rs138837432 |
785 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1288858664 CA344140844 |
788 | K>E | No |
ClinGen gnomAD |
|
CA344140749 rs1343341204 |
790 | E>G | No |
ClinGen gnomAD |
|
rs781628536 CA1321017 |
792 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1301601094 CA344140697 |
792 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs747380037 CA344140660 |
793 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1321015 rs747380037 |
793 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344140642 rs1388574815 |
795 | E>K | No |
ClinGen gnomAD |
|
COSM1337756 COSM4785905 |
795 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA1321000 rs759729192 |
797 | Q>H | No |
ClinGen ExAC gnomAD |
|
CA344140319 rs1182437794 |
797 | Q>R | No |
ClinGen TOPMed |
|
rs1248086878 CA344140283 |
799 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs776829182 CA1320999 |
799 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344140271 rs1459904151 |
800 | A>P | No |
ClinGen gnomAD |
|
rs1042677151 CA35993860 |
802 | E>* | No |
ClinGen TOPMed |
|
CA35993857 rs944245731 |
802 | E>V | No |
ClinGen TOPMed |
|
COSM4868066 COSM902036 |
804 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1210588721 CA344140163 |
804 | Q>R | No |
ClinGen gnomAD |
|
CA344140087 COSM4785696 COSM1337755 rs1364620614 |
806 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
CA1320995 rs541811989 |
806 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1320993 rs779467952 |
809 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1571933045 CA344139870 |
811 | V>G | No |
ClinGen Ensembl |
|
CA1320992 rs367929176 |
811 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs528414543 COSM531897 COSM6060595 COSM6060596 CA1320991 |
813 | R>K | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD |
CA1320990 rs779492718 |
816 | T>S | No |
ClinGen ExAC gnomAD |
|
CA344139636 rs1361252121 |
817 | Q>E | No |
ClinGen gnomAD |
|
COSM3481355 COSM4906138 |
818 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344139327 rs1558008810 |
819 | V>A | No |
ClinGen Ensembl |
|
rs758411092 CA1320964 |
819 | V>I | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 821 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 823 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA1320963 rs752619880 |
824 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1320962 COSM3481353 rs765068592 COSM4905880 |
824 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
CA344139010 rs1421643436 |
828 | P>T | No |
ClinGen TOPMed |
|
rs1477521082 CA344138948 |
829 | M>V | No |
ClinGen TOPMed |
|
CA1320961 rs760879983 |
831 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs561504096 CA1320960 |
832 | R>G | No |
ClinGen ExAC gnomAD |
|
rs368586806 CA1320958 |
832 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs561504096 CA344138803 |
832 | R>W | No |
ClinGen ExAC gnomAD |
|
rs866613972 CA35993571 |
835 | G>E | No |
ClinGen Ensembl |
|
CA1320954 rs776035656 |
836 | R>C | No |
ClinGen ExAC gnomAD |
|
CA1320952 COSM458319 rs141871941 |
836 | R>H | cervix [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
rs141871941 CA344138665 |
836 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1320953 rs141871941 |
836 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1320951 rs780518567 |
837 | A>T | No |
ClinGen ExAC gnomAD |
|
rs866186108 CA35993557 |
838 | G>E | No |
ClinGen Ensembl |
|
rs746591322 CA1320949 |
839 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344138583 rs1558008671 |
840 | K>R | No |
ClinGen Ensembl |
|
rs1489474129 CA344138573 |
841 | P>A | No |
ClinGen TOPMed gnomAD |
|
CA1320948 rs138915096 |
842 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA344138513 rs1558008653 |
843 | M>I | No |
ClinGen Ensembl |
|
rs141958232 CA1320947 |
843 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
COSM4925773 COSM4925774 |
845 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs752531935 CA1320945 |
850 | V>M | No |
ClinGen ExAC gnomAD |
|
CA1320944 rs149878626 |
851 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
CA1320942 rs750541983 |
853 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1388013409 CA344138224 |
854 | T>I | No |
ClinGen gnomAD |
|
rs1001416397 CA35993521 |
855 | T>A | No |
ClinGen TOPMed |
|
TCGA novel | 857 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 858 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA35993514 rs767458974 |
860 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1320940 rs762029270 |
862 | G>E | No |
ClinGen ExAC |
|
CA344138035 rs1319872125 |
863 | A>S | No |
ClinGen gnomAD |
|
rs142914751 CA1320939 |
864 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1320937 rs201161747 |
864 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA1320938 rs201161747 |
864 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1320936 rs775695479 |
865 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1479866453 CA344137989 |
866 | V>F | No |
ClinGen gnomAD |
|
CA1320933 rs776206215 |
870 | V>M | No |
ClinGen ExAC gnomAD |
|
CA1320931 rs540134751 |
871 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1465720206 CA344137871 |
871 | R>H | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 873 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs146392643 CA1320930 |
875 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
CA1320929 rs371230464 |
875 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs371230464 CA344137750 |
875 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
COSM3803417 COSM3803418 |
877 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA1320925 rs753653884 |
879 | H>R | No |
ClinGen ExAC gnomAD |
|
rs754976164 CA1320926 |
879 | H>Y | No |
ClinGen ExAC gnomAD |
|
rs528339942 CA35993361 |
880 | F>I | No |
ClinGen gnomAD |
|
CA1320924 rs200776260 |
881 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs1367298121 CA344137514 |
881 | L>S | No |
ClinGen gnomAD |
|
CA344137476 rs1395247207 |
883 | D>G | No |
ClinGen gnomAD |
|
COSM4897325 COSM3481351 |
885 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs757387167 CA1320923 |
886 | A>T | No |
ClinGen ExAC gnomAD |
|
rs201355461 CA1320922 |
886 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA1320920 rs763113039 |
887 | P>S | No |
ClinGen ExAC gnomAD |
|
CA344137311 rs1450100213 |
889 | V>A | No |
ClinGen gnomAD |
|
rs753135682 CA1320919 |
890 | N>S | No |
ClinGen ExAC gnomAD |
|
rs760098433 CA1320917 |
892 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1212624082 CA344137171 |
893 | R>C | No |
ClinGen gnomAD |
|
COSM902035 COSM4873798 CA1320915 rs771556735 |
893 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed |
rs771556735 CA344137136 |
893 | R>L | No |
ClinGen ExAC TOPMed |
|
CA1320914 COSM3481350 rs760298858 COSM4897441 |
896 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
COSM6060597 COSM6060598 |
896 | R>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA1320913 rs772829037 |
896 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344136131 rs1466376454 |
897 | K>N | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 897 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs950116813 CA35993127 |
901 | K>E | No |
ClinGen TOPMed |
|
TCGA novel | 902 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA1320896 rs767045421 |
904 | A>T | No |
ClinGen ExAC gnomAD |
|
CA1320895 rs572746581 |
905 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs370606334 CA1320894 |
905 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA344135785 rs1356391242 |
906 | Q>R | No |
ClinGen gnomAD |
|
CA1320893 rs377123925 |
911 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs761541411 CA1320892 |
911 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1167651753 CA344135547 |
912 | A>T | No |
ClinGen gnomAD |
|
rs1471855756 CA344135504 |
913 | R>K | No |
ClinGen gnomAD |
|
CA344135483 rs1411677647 |
914 | L>V | No |
ClinGen gnomAD |
|
COSM1728911 rs1182517364 CA344135368 |
916 | W>R | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA1320890 COSM678220 rs768350530 COSM4862080 |
921 | R>* | lung Variant assessed as Somatic; HIGH impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA1320889 rs373199147 |
921 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1320888 rs779775292 |
922 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1275046152 CA344134983 |
924 | I>T | No |
ClinGen TOPMed gnomAD |
|
CA344134967 rs1235478663 |
925 | D>H | No |
ClinGen TOPMed |
|
CA344134966 rs1235478663 |
925 | D>N | No |
ClinGen TOPMed |
|
CA1320886 rs141159592 |
927 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA344134795 rs1571930941 |
928 | M>L | No |
ClinGen Ensembl |
|
CA344134710 rs1225216899 |
931 | M>V | No |
ClinGen gnomAD |
|
rs1273238832 CA344134648 |
933 | I>T | No |
ClinGen gnomAD |
|
rs142794607 CA1320883 |
933 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1320882 rs373553632 |
935 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1411227503 CA344134473 |
938 | A>T | No |
ClinGen TOPMed |
|
CA344134455 rs1388419064 |
938 | A>V | No |
ClinGen gnomAD |
|
rs1160415808 CA344134396 |
940 | M>V | No |
ClinGen gnomAD |
|
rs1422639545 CA344134310 |
942 | R>Q | No |
ClinGen gnomAD |
|
rs754180658 COSM4948713 COSM1337754 CA1320879 |
942 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
rs1478102580 CA344134242 |
945 | K>E | No |
ClinGen gnomAD |
|
TCGA novel | 947 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1447281807 CA344133910 |
951 | F>I | No |
ClinGen gnomAD |
|
rs993415497 CA35992835 |
954 | Q>* | No |
ClinGen gnomAD |
|
CA344133789 rs1385837659 |
956 | A>V | No |
ClinGen TOPMed |
|
rs145500432 CA1320857 |
958 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA344133742 COSM337635 rs1296992330 |
958 | R>W | lung large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs1302664638 CA344133691 |
959 | R>S | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 959 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA1320856 rs763592461 |
961 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1320854 rs368046254 |
961 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
rs763592461 CA1320855 |
961 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1370626580 CA344133590 |
962 | E>D | No |
ClinGen gnomAD |
|
rs201937333 CA1320851 |
963 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1320852 rs764862669 COSM4026843 COSM4026842 |
963 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs770793249 CA1320849 |
965 | Q>E | No |
ClinGen ExAC gnomAD |
|
rs768726346 CA1320846 |
969 | P>L | No |
ClinGen ExAC gnomAD |
|
rs774303993 CA1320847 |
969 | P>S | No |
ClinGen ExAC gnomAD |
|
CA1320844 rs780491834 |
970 | E>K | No |
ClinGen ExAC gnomAD |
|
CA344133364 rs1206665889 |
971 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA35992749 rs867382583 |
972 | E>K | No |
ClinGen Ensembl |
|
CA1320842 rs746284805 |
984 | V>G | No |
ClinGen ExAC gnomAD |
|
rs1558007732 CA344132760 |
986 | A>E | No |
ClinGen Ensembl |
|
rs774113322 CA35992727 |
987 | A>G | No |
ClinGen Ensembl |
|
RCV000845074 rs1571930248 |
988 | N>missing | No |
ClinVar dbSNP |
|
CA1320840 rs757708029 |
989 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344132656 rs1357752151 |
989 | I>V | No |
ClinGen gnomAD |
|
CA35992713 rs921706449 |
991 | Y>S | No |
ClinGen TOPMed |
|
CA344132584 rs1408817244 |
993 | N>H | No |
ClinGen TOPMed gnomAD |
|
rs1558007686 CA344132578 |
993 | N>S | No |
ClinGen Ensembl |
|
rs370076018 CA344132558 |
994 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA35992710 rs973528778 |
995 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs757968603 CA1320837 |
996 | I>V | No |
ClinGen ExAC gnomAD |
|
rs375029523 CA1320836 |
997 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
CA344132406 rs1180339606 |
999 | C>W | No |
ClinGen gnomAD |
|
rs1385735832 CA344132269 |
1003 | I>V | No |
ClinGen Ensembl |
|
rs983020699 CA35992676 |
1004 | V>L | No |
ClinGen TOPMed gnomAD |
|
COSM209454 CA344132231 rs983020699 |
1004 | V>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
CA344132052 rs1487506175 |
1010 | K>R | No |
ClinGen gnomAD |
|
CA344131773 rs1290902105 |
1012 | E>D | No |
ClinGen TOPMed gnomAD |
|
CA1320801 rs778411234 |
1012 | E>K | No |
ClinGen ExAC gnomAD |
|
CA1320800 rs754544393 |
1014 | D>H | No |
ClinGen ExAC gnomAD |
|
CA344131691 rs1558007480 |
1016 | T>A | No |
ClinGen Ensembl |
|
COSM4863216 COSM678221 |
1017 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344131620 rs1416098796 |
1018 | T>K | No |
ClinGen TOPMed |
|
rs748747363 CA1320799 |
1019 | S>C | No |
ClinGen ExAC gnomAD |
|
rs755700539 CA1320797 |
1020 | V>M | No |
ClinGen ExAC gnomAD |
|
CA344131559 rs1193097230 |
1023 | S>G | No |
ClinGen gnomAD |
|
CA35992520 rs777644350 |
1031 | R>C | No |
ClinGen gnomAD |
|
COSM312340 rs767382537 CA1320795 |
1031 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
COSM6060599 COSM6060600 |
1031 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA1320792 rs764123257 |
1035 | D>E | No |
ClinGen ExAC gnomAD |
|
rs751602599 CA1320793 |
1035 | D>G | No |
ClinGen ExAC gnomAD |
|
rs759700369 CA1320791 |
1036 | N>D | No |
ClinGen ExAC |
|
CA344131102 rs1252298688 |
1037 | F>C | No |
ClinGen TOPMed |
|
TCGA novel | 1040 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
TCGA novel | 1041 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs766642944 CA1320789 |
1043 | D>E | No |
ClinGen ExAC gnomAD |
|
CA344130896 rs1341882397 |
1044 | K>R | No |
ClinGen TOPMed |
|
rs763331252 | 1045 | G>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
CA1320765 rs774676250 |
1045 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
rs1337593414 CA344130518 |
1047 | Q>* | No |
ClinGen gnomAD |
|
CA35991769 rs1043347356 |
1048 | V>M | No |
ClinGen TOPMed |
|
CA344130455 rs1440773202 |
1049 | A>T | No |
ClinGen gnomAD |
|
CA1320762 rs775071133 |
1053 | A>V | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1054 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA1320759 COSM4816305 rs781031353 COSM424984 |
1056 | R>Q | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs745376488 CA1320760 |
1056 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344130276 rs1467137241 |
1057 | L>M | No |
ClinGen TOPMed |
|
rs913689255 CA35991747 |
1060 | G>S | No |
ClinGen gnomAD |
|
CA344130218 rs1192977516 |
1061 | R>* | No |
ClinGen TOPMed gnomAD |
|
rs770684134 CA1320758 |
1061 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1320757 rs746818505 |
1062 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746818505 CA344130214 |
1062 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344130168 rs1298851998 |
1063 | R>S | No |
ClinGen TOPMed |
|
CA1320756 rs777667718 |
1065 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344130124 rs777667718 |
1065 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM424983 COSM4813654 |
1065 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA1320753 rs778899125 |
1067 | M>T | No |
ClinGen ExAC gnomAD |
|
rs752516012 CA1320754 |
1067 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1235525526 CA344130053 |
1069 | G>V | No |
ClinGen TOPMed |
|
rs1233599767 CA344130040 |
1070 | S>F | No |
ClinGen TOPMed gnomAD |
|
rs750475944 CA1320751 |
1071 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs750475944 CA344130038 |
1071 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1328439999 CA344129974 |
1073 | N>S | No |
ClinGen gnomAD |
|
CA1320748 rs751952433 |
1079 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1422573344 CA344129797 |
1079 | A>V | No |
ClinGen gnomAD |
|
rs1286188382 CA344129795 |
1080 | L>V | No |
ClinGen gnomAD |
|
rs764300358 CA1320747 |
1081 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs763531100 CA35991663 |
1081 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1320746 rs763531100 |
1081 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs770301614 CA1320744 |
1086 | A>V | No |
ClinGen ExAC gnomAD |
|
CA1320743 rs759165397 |
1087 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344129578 rs1571927710 |
1087 | H>P | No |
ClinGen Ensembl |
|
rs776231896 CA1320742 |
1087 | H>Q | No |
ClinGen ExAC gnomAD |
|
rs759165397 CA344129584 |
1087 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344129540 rs1278393159 |
1089 | E>K | No |
ClinGen gnomAD |
|
rs1306348134 CA344129472 |
1091 | Q>H | No |
ClinGen TOPMed gnomAD |
|
rs1213306130 CA344129469 |
1092 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA35991584 rs1006440488 |
1094 | I>M | No |
ClinGen Ensembl |
|
CA344129311 rs1439158523 |
1096 | N>D | No |
ClinGen TOPMed |
|
CA1320739 rs777721305 |
1097 | V>A | No |
ClinGen ExAC |
|
rs1293239166 CA344129138 |
1099 | Q>R | No |
ClinGen TOPMed |
|
CA344128113 rs1381530001 |
1101 | N>D | No |
ClinGen TOPMed |
|
CA1320711 CA344128042 rs200143132 |
1103 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA344128038 rs777904600 |
1104 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs777904600 CA1320709 |
1104 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs758596457 CA1320708 |
1104 | A>V | No |
ClinGen ExAC gnomAD |
|
rs994062130 CA35991379 |
1106 | T>K | No |
ClinGen Ensembl |
|
TCGA novel | 1107 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1207170531 CA344127952 |
1107 | D>Y | No |
ClinGen TOPMed |
|
CA344127825 rs1278958174 |
1111 | S>* | No |
ClinGen gnomAD |
|
COSM4869795 COSM902033 |
1113 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344127732 rs1207213444 |
1114 | S>P | No |
ClinGen gnomAD |
|
rs966273606 CA35991376 |
1115 | E>D | No |
ClinGen TOPMed gnomAD |
|
rs1441334053 CA344127668 |
1116 | G>D | No |
ClinGen TOPMed |
|
CA1320706 rs765567729 |
1117 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1366039030 CA344127622 |
1117 | S>I | No |
ClinGen TOPMed gnomAD |
|
CA344127653 rs765567729 |
1117 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344127381 rs1308558587 |
1118 | F>L | No |
ClinGen gnomAD |
|
rs1427316782 CA344127368 |
1119 | S>F | No |
ClinGen TOPMed |
|
rs748341444 CA1320689 |
1120 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs1231379900 CA344127360 |
1120 | Q>P | No |
ClinGen gnomAD |
|
rs778986480 CA1320688 |
1123 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs868404550 CA35991207 |
1124 | M>I | No |
ClinGen Ensembl |
|
CA1320686 rs754226401 |
1126 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1382480222 CA344127213 |
1126 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA1320687 rs754226401 |
1126 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
rs79014613 CA1320685 |
1127 | S>P | No |
ClinGen ExAC gnomAD |
|
rs200705792 CA1320684 |
1128 | T>P | No |
ClinGen ExAC gnomAD |
|
rs992008787 CA35991176 |
1132 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA344126981 rs1395080041 |
1135 | F>L | No |
ClinGen gnomAD |
|
rs1194793180 CA344126958 |
1136 | K>R | No |
ClinGen gnomAD |
|
rs1223363768 CA344126785 |
1137 | S>N | No |
ClinGen TOPMed |
|
rs1571924866 CA344126753 |
1139 | P>S | No |
ClinGen Ensembl |
|
rs1558005047 CA344126663 |
1145 | M>R | No |
ClinGen Ensembl |
|
CA344126633 rs1185314463 |
1148 | V>M | No |
ClinGen gnomAD |
|
COSM902032 COSM4873668 |
1149 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344126605 rs1571924801 |
1152 | C>G | No |
ClinGen Ensembl |
|
TCGA novel | 1154 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA344126594 rs1337381744 |
1154 | G>S | No |
ClinGen gnomAD |
|
rs1471048187 CA344126589 |
1154 | G>V | No |
ClinGen TOPMed |
|
COSM2211696 COSM4335025 |
1156 | P>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA1320664 rs781538004 |
1156 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1320663 rs781538004 |
1156 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344126570 rs1425192581 |
1158 | D>G | No |
ClinGen TOPMed |
|
COSM77965 rs1313587578 CA344126532 |
1161 | T>N | ovary [Cosmic] | No |
ClinGen cosmic curated gnomAD |
CA344126522 rs1368142854 |
1162 | K>R | No |
ClinGen TOPMed |
|
CA344126493 rs1408906090 |
1165 | T>A | No |
ClinGen TOPMed |
|
COSM1337749 COSM4782896 |
1169 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA1320659 COSM4764335 COSM4764336 rs762552831 |
1172 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs374324357 CA1320658 |
1174 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
rs867123470 CA35990285 |
1176 | E>K | No |
ClinGen Ensembl |
|
CA344126355 rs144609175 |
1177 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM138268 rs759234752 CA1320656 |
1178 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
rs566220899 CA1320655 |
1178 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
rs764977449 CA35990243 |
1179 | V>A | No |
ClinGen gnomAD |
|
CA1320654 rs770740316 |
1179 | V>M | No |
ClinGen ExAC gnomAD |
|
rs774526461 CA1320652 |
1183 | V>I | No |
ClinGen ExAC gnomAD |
|
CA1320653 rs774526461 |
1183 | V>L | No |
ClinGen ExAC gnomAD |
|
rs769034251 CA1320651 |
1184 | R>* | No |
ClinGen ExAC gnomAD |
|
rs371053876 CA1320650 |
1184 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
rs376964063 CA1320648 |
1189 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs746216671 CA344126176 |
1189 | R>P | No |
ClinGen ExAC gnomAD |
|
rs746216671 CA1320647 |
1189 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs376964063 CA1320649 COSM209453 COSM4782911 |
1189 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
rs757654586 CA1320645 |
1191 | R>G | No |
ClinGen ExAC gnomAD |
|
rs746551783 CA1320644 |
1192 | V>I | No |
ClinGen ExAC gnomAD |
|
CA1320643 COSM1212411 rs759136145 |
1193 | S>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA35990174 rs759136145 |
1193 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
rs983748414 CA35990158 COSM1743637 |
1194 | R>C | biliary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
rs375407145 CA1320640 |
1194 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1320638 COSM2211694 COSM4026841 rs201349051 |
1196 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA35990114 rs751938642 |
1199 | P>L | No |
ClinGen Ensembl |
|
CA1320636 rs766365113 |
1200 | T>I | No |
ClinGen ExAC gnomAD |
|
rs371066665 CA1320634 |
1201 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs371066665 CA1320633 |
1201 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs763115699 CA1320632 |
1202 | G>D | No |
ClinGen ExAC gnomAD |
|
CA344125992 rs1459053056 |
1203 | S>C | No |
ClinGen gnomAD |
|
TCGA novel | 1205 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
CA1320618 COSM3481346 rs756134028 COSM4891891 |
1210 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
rs750448381 CA344125666 |
1214 | T>A | No |
ClinGen ExAC gnomAD |
|
CA1320616 rs369653840 COSM1212413 |
1214 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
rs750448381 CA1320617 |
1214 | T>P | No |
ClinGen ExAC gnomAD |
|
CA1320614 rs775691918 |
1216 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1320611 rs777063474 |
1218 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1320612 rs777063474 |
1218 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1558004513 CA344125499 |
1221 | K>M | No |
ClinGen Ensembl |
|
CA1320610 rs375526424 |
1223 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1320608 rs773747249 |
1224 | D>N | No |
ClinGen ExAC gnomAD |
|
CA344125390 rs147866695 |
1225 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA344125386 rs747677870 |
1225 | R>P | No |
ClinGen ExAC gnomAD |
|
CA1320606 rs747677870 |
1225 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs778248419 CA1320605 |
1226 | G>R | No |
ClinGen ExAC gnomAD |
|
COSM4859164 COSM678222 |
1227 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1184563513 CA344125341 |
1229 | I>V | No |
ClinGen gnomAD |
|
COSM3789314 COSM3789315 CA344124746 rs1558003032 |
1233 | D>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
COSM1134797 | 1233 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM4895450 COSM4895451 |
1235 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs748830296 CA1320585 |
1235 | G>R | No |
ClinGen ExAC gnomAD |
|
CA1320584 rs779616811 |
1236 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
rs769551612 CA1320583 |
1237 | T>I | No |
ClinGen ExAC gnomAD |
|
rs973986051 CA35988898 |
1238 | P>L | No |
ClinGen TOPMed gnomAD |
|
CA1320582 rs745682971 |
1238 | P>T | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1241 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1292286726 CA344124581 |
1244 | T>I | No |
ClinGen gnomAD |
|
CA1320580 rs757271782 |
1245 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs781065888 CA1320581 |
1245 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM1320589 | 1246 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs751505502 CA1320579 |
1247 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
COSM4867613 rs777757543 CA1320578 COSM902030 |
1247 | R>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
CA344124554 rs777757543 |
1247 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1320577 rs755052725 |
1250 | R>C | No |
ClinGen ExAC gnomAD |
|
CA1320576 rs766609365 |
1250 | R>H | No |
ClinGen ExAC gnomAD |
|
CA1320575 rs766609365 |
1250 | R>L | No |
ClinGen ExAC gnomAD |
|
rs1264811878 CA344124493 |
1251 | N>H | No |
ClinGen TOPMed |
|
CA1320573 rs750792575 |
1251 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
TCGA novel | 1253 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1558002936 CA344124397 |
1254 | S>F | No |
ClinGen Ensembl |
|
CA1320571 rs762225525 |
1255 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200381288 CA35988886 |
1258 | S>G | No |
ClinGen TOPMed |
|
CA344124209 rs1175518505 |
1263 | G>E | No |
ClinGen gnomAD |
|
CA344124216 rs1174458087 |
1263 | G>R | No |
ClinGen TOPMed |
|
rs974494179 CA35988878 |
1264 | S>T | No |
ClinGen Ensembl |
|
CA1320569 rs144598197 |
1265 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs775094351 CA344124155 |
1266 | L>P | No |
ClinGen ExAC gnomAD |
|
CA1320567 rs775094351 |
1266 | L>Q | No |
ClinGen ExAC gnomAD |
|
CA1320566 rs368095400 |
1267 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA344124108 rs1300308340 |
1268 | K>R | No |
ClinGen TOPMed |
|
CA344123814 rs1330747785 |
1270 | D>E | No |
ClinGen TOPMed |
|
rs1353784897 CA344123765 |
1272 | S>G | No |
ClinGen gnomAD |
|
CA344123720 rs1231955110 |
1273 | D>N | No |
ClinGen gnomAD |
|
rs868017782 CA35987686 |
1275 | S>F | No |
ClinGen Ensembl |
|
rs1370112877 CA344123632 |
1276 | L>S | No |
ClinGen gnomAD |
|
rs1301750014 CA344123596 |
1277 | S>L | No |
ClinGen TOPMed gnomAD |
|
rs1282586376 CA344123569 |
1279 | V>F | No |
ClinGen TOPMed |
|
rs1571914879 CA344122733 |
1285 | S>A | No |
ClinGen Ensembl |
|
CA35983931 rs868507612 |
1285 | S>F | No |
ClinGen TOPMed |
|
CA35983936 rs868507612 |
1285 | S>Y | No |
ClinGen TOPMed |
|
rs756253893 CA1320535 |
1286 | P>L | No |
ClinGen ExAC gnomAD |
|
COSM4228897 COSM3481344 |
1286 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1185243158 CA344122619 |
1288 | G>A | No |
ClinGen TOPMed gnomAD |
|
rs544069907 CA1320533 |
1290 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs751902877 CA1320531 |
1291 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
rs200030709 CA344122549 |
1292 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs991066872 CA344122548 |
1292 | G>D | No |
ClinGen TOPMed |
|
rs200030709 CA35983918 |
1292 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs200030709 CA1320530 |
1292 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs991066872 CA35983913 |
1292 | G>V | No |
ClinGen TOPMed |
|
rs758674671 CA1320529 |
1294 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1218953359 CA344122513 |
1294 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs753318546 CA1320528 |
1295 | T>A | No |
ClinGen ExAC gnomAD |
|
CA1320527 rs765805058 |
1295 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344122359 rs1233363392 |
1300 | C>Y | No |
ClinGen gnomAD |
|
CA344122301 CA1320525 rs776232070 |
1303 | M>L | No |
ClinGen ExAC gnomAD |
|
CA344122300 rs776232070 |
1303 | M>V | No |
ClinGen ExAC gnomAD |
|
COSM5002229 CA1320523 rs760306875 COSM5002228 |
1305 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
CA1320521 rs145377208 |
1308 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs145377208 CA1320522 |
1308 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA344122097 rs1162315652 |
1311 | I>V | No |
ClinGen gnomAD |
|
rs1168092956 CA344122066 |
1312 | L>F | No |
ClinGen TOPMed |
|
COSM1320590 | 1316 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1368569214 CA344121952 |
1317 | T>I | No |
ClinGen TOPMed gnomAD |
|
CA344121926 rs1417252859 |
1318 | D>E | No |
ClinGen gnomAD |
|
rs541919266 CA35983842 |
1318 | D>H | No |
ClinGen 1000Genomes gnomAD |
|
rs541919266 CA344121936 |
1318 | D>N | No |
ClinGen 1000Genomes gnomAD |
|
CA1320518 rs768562446 |
1321 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1212027245 CA344121779 |
1322 | F>C | No |
ClinGen gnomAD |
|
rs781295347 CA1320515 |
1324 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs748553881 CA1320492 |
1328 | R>G | No |
ClinGen ExAC gnomAD |
|
rs762285465 CA1320491 |
1328 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs755554770 CA344121012 |
1331 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755554770 CA1320490 |
1331 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344121008 rs1247555499 |
1332 | M>L | No |
ClinGen gnomAD |
|
CA344120964 rs1170544715 |
1334 | N>K | No |
ClinGen TOPMed |
|
CA35982840 rs936708082 |
1336 | V>I | No |
ClinGen TOPMed |
|
rs148995617 CA1320488 |
1337 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1320489 rs148995617 |
1337 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1262593839 CA344120882 |
1339 | Q>R | No |
ClinGen gnomAD |
|
rs749879726 CA1320486 |
1341 | I>L | No |
ClinGen ExAC gnomAD |
|
CA344120832 rs761419541 |
1342 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1320484 COSM209451 rs761419541 |
1342 | A>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs751363063 CA1320483 |
1343 | A>T | No |
ClinGen ExAC gnomAD |
|
rs763821874 CA1320482 |
1345 | K>R | No |
ClinGen ExAC gnomAD |
|
COSM4897419 COSM3481341 |
1346 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344120748 rs1571912837 |
1347 | H>P | No |
ClinGen Ensembl |
|
rs74962326 CA1320481 |
1348 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1230284212 CA344120734 |
1348 | P>T | No |
ClinGen TOPMed |
|
COSM902029 COSM4875865 |
1355 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA1320478 rs760827160 |
1356 | Y>S | No |
ClinGen ExAC |
|
rs773124377 CA1320477 |
1357 | C>G | No |
ClinGen ExAC gnomAD |
|
CA1320476 rs772428493 |
1357 | C>S | No |
ClinGen ExAC gnomAD |
|
CA344120533 rs1557998794 |
1358 | S>T | No |
ClinGen Ensembl |
|
rs1414879600 CA344120496 |
1359 | H>Q | No |
ClinGen gnomAD |
|
CA1320475 rs748320919 |
1359 | H>R | No |
ClinGen ExAC gnomAD |
|
rs1050958860 CA35982780 |
1359 | H>Y | No |
ClinGen Ensembl |
|
rs150759147 CA1320474 |
1360 | S>L | No |
ClinGen ESP ExAC gnomAD |
|
COSM3481340 COSM4897243 |
1365 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1194551347 CA344120416 |
1366 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs1039174810 CA35982771 |
1367 | S>F | No |
ClinGen Ensembl |
|
CA344120404 rs1489310156 |
1367 | S>P | No |
ClinGen gnomAD |
|
CA1320471 rs780660329 |
1370 | Y>C | No |
ClinGen ExAC gnomAD |
|
CA1320470 rs756531232 |
1371 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1208140343 CA344120312 |
1372 | K>E | No |
ClinGen TOPMed |
|
rs745419043 CA1320469 |
1373 | V>M | No |
ClinGen ExAC gnomAD |
|
CA344120244 rs1448603030 |
1376 | I>V | No |
ClinGen TOPMed |
|
CA1320467 rs756919658 |
1377 | R>Q | No |
ClinGen ExAC gnomAD |
|
rs1217111451 CA344120229 |
1377 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
CA35982717 rs936730509 |
1380 | A>V | No |
ClinGen TOPMed gnomAD |
|
rs1376322516 CA344120130 |
1384 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
COSM4899319 rs148681629 CA1320465 COSM3481339 |
1384 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
TCGA novel | 1385 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs758234153 CA1320464 |
1386 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1320463 rs752381283 |
1387 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs764882363 CA1320445 |
1388 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
rs749063098 CA1320444 COSM4026838 COSM4026837 |
1389 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
CA344119402 rs1180832159 |
1390 | G>A | No |
ClinGen gnomAD |
|
CA35981117 rs866081298 |
1390 | G>S | No |
ClinGen Ensembl |
|
CA1320442 rs149261347 |
1393 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA344119236 rs1268549977 |
1395 | G>E | No |
ClinGen TOPMed gnomAD |
|
TCGA novel | 1400 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs762033039 CA35981111 |
1400 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs762033039 COSM902027 CA1320441 |
1400 | A>T | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
CA1320437 rs564491313 |
1404 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA1320436 rs770118841 |
1404 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344118915 rs1384804072 |
1407 | T>I | No |
ClinGen gnomAD |
|
CA344118854 rs1197387543 |
1409 | A>V | No |
ClinGen TOPMed gnomAD |
|
CA35981065 rs1041368136 |
1411 | G>S | No |
ClinGen TOPMed |
|
CA344118815 rs1293151975 |
1412 | E>K | No |
ClinGen gnomAD |
|
rs777168074 CA1320434 |
1413 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
rs771373697 CA1320433 |
1414 | Q>H | No |
ClinGen ExAC gnomAD |
|
rs746551404 CA1320432 |
1415 | I>L | No |
ClinGen ExAC gnomAD |
|
rs771767165 CA1320430 |
1419 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs747812926 CA1320429 |
1420 | L>V | No |
ClinGen ExAC gnomAD |
|
COSM678223 COSM4860076 |
1421 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344118466 rs1325857808 |
1421 | S>R | No |
ClinGen TOPMed |
|
COSM902026 rs1191391325 COSM4870803 CA344118426 |
1423 | S>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
rs753664651 CA1320426 |
1424 | G>A | No |
ClinGen ExAC gnomAD |
|
CA1320425 rs780164811 |
1427 | L>P | No |
ClinGen ExAC gnomAD |
|
CA1320423 rs375949029 |
1429 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1320421 rs763078617 |
1430 | A>D | No |
ClinGen ExAC gnomAD |
|
rs1442856195 CA344118276 |
1430 | A>T | No |
ClinGen TOPMed gnomAD |
|
CA1320420 rs752932959 |
1431 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA35980956 rs752932959 |
1431 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM678224 COSM4859730 |
1433 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
COSM678225 COSM4858961 |
1434 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA1320418 rs759837389 |
1435 | V>I | No |
ClinGen ExAC gnomAD |
|
rs1361814429 CA344118032 |
1436 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA1320417 COSM1733782 rs776939102 |
1436 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
COSM4925975 COSM4925974 |
1436 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs1361814429 CA344118036 |
1436 | R>S | No |
ClinGen gnomAD |
|
rs771428814 CA1320416 |
1440 | L>P | No |
ClinGen ExAC gnomAD |
|
CA344117806 rs1571909690 |
1442 | R>K | No |
ClinGen Ensembl |
|
CA344117590 rs1397752528 |
1444 | Q>H | No |
ClinGen gnomAD |
|
CA344117558 rs1169474713 |
1445 | P>L | No |
ClinGen gnomAD |
|
CA344117556 rs1236053103 |
1446 | V>I | No |
ClinGen TOPMed |
|
rs773631554 CA1320398 |
1447 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1320397 rs773631554 |
1447 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs773873351 CA1320394 |
1453 | I>V | No |
ClinGen ExAC gnomAD |
|
rs1571909149 CA344117327 |
1454 | G>A | No |
ClinGen Ensembl |
|
CA35980495 rs1009930903 |
1454 | G>S | No |
ClinGen TOPMed gnomAD |
|
rs1557996390 CA344117309 |
1455 | P>L | No |
ClinGen Ensembl |
|
rs748894977 CA1320392 |
1455 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs775270816 CA1320391 |
1456 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
rs371235023 CA1320390 |
1460 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs781009610 CA1320388 |
1462 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1314058805 CA344117117 |
1463 | Q>P | No |
ClinGen gnomAD |
|
rs748178950 CA1320386 |
1464 | T>A | No |
ClinGen ExAC gnomAD |
|
rs146916477 CA1320385 |
1464 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA1320383 rs754124617 |
1465 | A>V | No |
ClinGen ExAC gnomAD |
|
rs142799216 CA1320380 |
1471 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs142799216 CA1320379 |
1471 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs762317273 CA1320378 |
1472 | V>A | No |
ClinGen ExAC gnomAD |
|
rs1293823031 CA344116829 |
1474 | G>A | No |
ClinGen TOPMed |
|
rs1437697718 CA344116790 |
1476 | K>E | No |
ClinGen gnomAD |
|
CA344116805 rs1437697718 |
1476 | K>Q | No |
ClinGen gnomAD |
|
CA35980464 rs141421404 COSM109764 |
1478 | H>Q | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
rs773748276 CA1320377 |
1479 | Y>F | No |
ClinGen ExAC gnomAD |
|
rs1178947844 CA344116685 |
1479 | Y>H | No |
ClinGen gnomAD |
|
CA35980450 rs1049734021 |
1480 | V>G | No |
ClinGen Ensembl |
|
CA344116669 rs1208206673 |
1480 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
rs752179066 CA1320357 |
1482 | M>L | No |
ClinGen ExAC gnomAD |
|
rs1395543426 CA344116047 |
1483 | F>I | No |
ClinGen gnomAD |
|
CA1320356 rs149715193 |
1483 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1320354 rs146030020 |
1484 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs146030020 CA344116005 |
1484 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1176156309 CA344115974 |
1485 | L>V | No |
ClinGen gnomAD |
|
rs1557995324 CA344115924 |
1486 | G>V | No |
ClinGen Ensembl |
|
rs1477823118 CA344115918 COSM902024 |
1487 | E>K | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
CA1320352 rs139422310 |
1488 | C>G | No |
ClinGen ESP ExAC gnomAD |
|
CA1320351 rs776131067 |
1489 | V>A | No |
ClinGen ExAC gnomAD |
|
CA1320349 rs200890486 |
1490 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs141163764 CA1320347 |
1492 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1320345 rs143966011 |
1493 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
rs1557995254 CA344115801 |
1493 | I>V | No |
ClinGen Ensembl |
|
CA1320342 rs746160875 |
1494 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1571907320 CA344115747 |
1495 | P>A | No |
ClinGen Ensembl |
|
rs757683666 CA1320340 |
1497 | H>R | No |
ClinGen ExAC gnomAD |
|
CA1320341 rs781269346 |
1497 | H>Y | No |
ClinGen ExAC gnomAD |
|
CA344115681 rs1157596378 |
1498 | N>D | No |
ClinGen gnomAD |
|
CA35979607 rs751851213 |
1499 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1320338 rs778450016 |
1500 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
COSM161975 COSM4810040 |
1502 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 1503 | H>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1407167199 CA344115537 |
1504 | Y>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
rs144049379 CA1320333 |
1505 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
CA1320332 rs765924369 |
1508 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
rs61740481 CA35979548 |
1509 | C>Y | No |
ClinGen Ensembl |
|
rs772951580 CA1320330 |
1511 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
CA35979539 rs372866126 |
1513 | Q>P | No |
ClinGen Ensembl |
|
rs1462022672 CA344115321 |
1515 | D>N | No |
ClinGen gnomAD |
|
CA1320329 rs772002911 |
1516 | I>S | No |
ClinGen ExAC gnomAD |
|
rs769986420 CA344115155 |
1522 | R>* | No |
ClinGen ExAC gnomAD |
|
rs1258132353 CA344115127 COSM4391731 COSM397085 |
1522 | R>Q | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
CA1320325 rs745908641 |
1524 | N>D | No |
ClinGen ExAC gnomAD |
|
rs1283497407 CA344115068 |
1525 | G>V | No |
ClinGen gnomAD |
|
rs1487169305 CA344115021 |
1527 | K>R | No |
ClinGen gnomAD |
|
CA1320323 rs771014296 |
1528 | K>Q | No |
ClinGen ExAC gnomAD |
|
TCGA novel | 1529 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
rs1384759001 CA344114864 |
1530 | D>G | No |
ClinGen gnomAD |
|
CA35979519 rs897984816 |
1530 | D>N | No |
ClinGen TOPMed |
|
rs1328997473 CA344114804 |
1532 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
CA344114777 rs1220838226 |
1533 | Q>R | No |
ClinGen TOPMed |
|
rs1399760782 CA344114725 |
1534 | Q>H | No |
ClinGen gnomAD |
|
TCGA novel | 1535 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
CA35979146 rs893498810 |
1542 | N>S | No |
ClinGen TOPMed |
|
rs779375010 CA1320298 |
1543 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs755638591 CA1320297 COSM4026834 COSM4026833 |
1543 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
CA1320295 rs767128477 |
1544 | H>N | No |
ClinGen ExAC gnomAD |
|
CA344114303 rs1308815118 |
1546 | D>N | No |
ClinGen gnomAD |
|
rs150039989 CA344114208 |
1549 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs371234338 CA1320292 |
1550 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs924713622 COSM3481336 CA35979091 COSM4904080 |
1550 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed |
CA344114126 rs1571906045 |
1554 | I>L | No |
ClinGen Ensembl |
|
CA344114111 rs1405613213 |
1555 | P>A | No |
ClinGen gnomAD |
|
CA1320291 rs367842661 |
1555 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
rs374243060 CA1320287 |
1557 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1320288 rs374243060 |
1557 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
CA1320286 rs772370328 |
1557 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
rs774513349 CA1320284 |
1561 | L>F | No |
ClinGen ExAC gnomAD |
|
rs769220889 CA1320283 |
1561 | L>P | No |
ClinGen ExAC |
|
COSM1337746 COSM4786294 |
1563 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA1320279 rs745363004 |
1563 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
rs1261001548 CA344113942 |
1563 | A>V | No |
ClinGen gnomAD |
|
rs1215834067 CA344113914 |
1565 | R>C | No |
ClinGen TOPMed gnomAD |
|
rs757902142 CA35979017 |
1566 | A>T | No |
ClinGen TOPMed |
|
rs1252446264 CA344113880 |
1566 | A>V | No |
ClinGen TOPMed |
|
CA1320275 rs757273186 |
1567 | G>S | No |
ClinGen ExAC gnomAD |
|
CA10868625 rs1282875178 |
1569 | I>L | No |
ClinGen TOPMed gnomAD |
|
rs916406565 CA35978988 |
1570 | K>T | No |
ClinGen Ensembl |
|
CA1320273 rs758204948 |
1571 | V>A | No |
ClinGen ExAC gnomAD |
|
COSM4893624 COSM3481335 |
1572 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
TCGA novel | 1572 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
rs1486124253 CA344113745 |
1572 | W>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
rs752614135 CA1320272 |
1574 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
rs760858891 CA344113614 |
1575 | D>E | No |
ClinGen ExAC gnomAD |
|
rs1386241819 CA344113633 |
1575 | D>N | No |
ClinGen gnomAD |
|
TCGA novel | 1579 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
COSM902021 rs1176678168 CA344113502 COSM3864058 |
1581 | G>S | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
rs1448590601 CA344113438 |
1583 | I>V | No |
ClinGen gnomAD |
|
COSM1337745 COSM4784978 |
1585 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
CA344113345 rs1464303269 |
1586 | H>Y | No |
ClinGen TOPMed |
|
rs1263742406 CA344113308 |
1587 | D>E | No |
ClinGen gnomAD |
|
CA1320266 rs774619563 |
1587 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
rs1209517597 CA344113291 |
1588 | S>N | No |
ClinGen gnomAD |
|
rs1571905747 CA344113261 |
1589 | P>T | No |
ClinGen Ensembl |
|
CA916380277 rs1571905729 |
1589 | P>TF* | No |
ClinGen Ensembl |
|
rs1482786468 CA344113218 |
1591 | N>S | No |
ClinGen gnomAD |
|
rs962324507 CA35978950 |
1592 | A>S | No |
ClinGen gnomAD |
|
rs1325849166 CA344113184 |
1593 | I>T | No |
ClinGen gnomAD |
|
COSM4897217 COSM3481334 |
1593 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
rs770240852 CA1320262 |
1596 | N>S | No |
ClinGen ExAC gnomAD |
|
CA35978910 rs1015224828 |
1597 | A>D | No |
ClinGen TOPMed |
|
CA35978908 rs1015224828 |
1597 | A>V | No |
ClinGen TOPMed |
|
rs563987924 CA1320261 |
1598 | K>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA1320260 rs139376570 |
1599 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1320259 rs770410636 |
1600 | I>T | No |
ClinGen ExAC gnomAD |
|
rs1382524552 CA344113085 |
1601 | F>L | No |
ClinGen gnomAD |
|
rs1382330101 COSM5595868 COSM5595869 CA344112984 |
1604 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed |
CA344111965 rs1557993602 |
1606 | D>G | No |
ClinGen Ensembl |
|
rs763238254 CA1320244 |
1608 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
CA1320245 rs764362831 |
1608 | R>W | No |
ClinGen ExAC gnomAD |
|
rs561876803 CA1320243 |
1609 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs759983236 CA1320241 |
1610 | K>M | No |
ClinGen ExAC gnomAD |
|
rs770498620 CA1320239 |
1612 | W>C | No |
ClinGen ExAC gnomAD |
|
CA344111651 rs746518366 |
1614 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM4784566 COSM1285781 CA1320237 rs200570033 |
1615 | V>I | Variant assessed as Somatic; MODERATE impact. large_intestine autonomic_ganglia [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
CA1320235 rs201292196 |
1616 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA344111565 rs1398968198 |
1619 | T>A | No |
ClinGen TOPMed |
|
CA1320234 rs559417656 |
1620 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA35978388 rs559417656 |
1620 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
CA344111501 rs1345917478 |
1621 | C>W | No |
ClinGen TOPMed |
|
rs778803239 CA1320233 |
1624 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
CA1320232 rs754798616 |
1624 | R>H | No |
ClinGen ExAC gnomAD |
|
rs780134125 CA1320230 |
1625 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
CA344111447 rs780134125 |
1625 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
rs865830055 CA35978328 |
1625 | R>Q | No |
ClinGen TOPMed gnomAD |
|
CA35978318 rs765324456 |
1627 | L>P | No |
ClinGen Ensembl |
|
rs1239326742 CA344111399 |
1629 | I>M | No |
ClinGen gnomAD |
|
rs757337335 COSM6123724 COSM1212410 CA1320229 |
1632 | R>H | lung Variant assessed as Somatic; MODERATE impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
rs757337335 CA344111371 |
1632 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
COSM4696028 CA344111367 COSM4696029 rs1222919024 |
1633 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed |
CA344111355 rs1571904406 |
1634 | T>P | No |
ClinGen Ensembl |
|
rs1403795353 CA344111340 |
1635 | T>A | No |
ClinGen gnomAD |
|
rs1403795353 CA344111336 |
1635 | T>P | No |
ClinGen gnomAD |
No associated diseases with O75037
No regional properties for O75037
Type | Name | Position | InterPro Accession |
---|---|---|---|
No domain, repeats, and functional sites for O75037 |
Functions
Description | ||
---|---|---|
EC Number | ||
Subcellular Localization |
|
|
PANTHER Family | PTHR47969 | CHROMOSOME-ASSOCIATED KINESIN KIF4A-RELATED |
PANTHER Subfamily | PTHR47969:SF28 | KINESIN-LIKE PROTEIN KIF21B ISOFORM X1 |
PANTHER Protein Class |
cytoskeletal protein
microtubule binding motor protein microtubule or microtubule-binding cytoskeletal protein |
|
PANTHER Pathway Category | No pathway information available |
5 GO annotations of cellular component
Name | Definition |
---|---|
cytoplasmic vesicle | A vesicle found in the cytoplasm of a cell. |
dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
kinesin complex | Any complex that includes a dimer of molecules from the kinesin superfamily, a group of related proteins that contain an extended region of predicted alpha-helical coiled coil in the main chain that likely produces dimerization. The native complexes of several kinesin family members have also been shown to contain additional peptides, often designated light chains as all of the noncatalytic subunits that are currently known are smaller than the chain that contains the motor unit. Kinesin complexes generally possess a force-generating enzymatic activity, or motor, which converts the free energy of the gamma phosphate bond of ATP into mechanical work. |
microtubule | Any of the long, generally straight, hollow tubes of internal diameter 12-15 nm and external diameter 24 nm found in a wide variety of eukaryotic cells; each consists (usually) of 13 protofilaments of polymeric tubulin, staggered in such a manner that the tubulin monomers are arranged in a helical pattern on the microtubular surface, and with the alpha/beta axes of the tubulin subunits parallel to the long axis of the tubule; exist in equilibrium with pool of tubulin monomers and can be rapidly assembled or disassembled in response to physiological stimuli; concerned with force generation, e.g. in the spindle. |
4 GO annotations of molecular function
Name | Definition |
---|---|
ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
ATP hydrolysis activity | Catalysis of the reaction |
microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
microtubule motor activity | A motor activity that generates movement along a microtubule, driven by ATP hydrolysis. |
1 GO annotations of biological process
Name | Definition |
---|---|
microtubule-based movement | A microtubule-based process that results in the movement of organelles, other microtubules, or other cellular components. Examples include motor-driven movement along microtubules and movement driven by polymerization or depolymerization of microtubules. |
20 homologous proteins in AiPD
UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
---|---|---|---|---|
O95239 | KIF4A | Chromosome-associated kinesin KIF4A | Homo sapiens (Human) | SS |
Q2VIQ3 | KIF4B | Chromosome-associated kinesin KIF4B | Homo sapiens (Human) | SS |
P33176 | KIF5B | Kinesin-1 heavy chain | Homo sapiens (Human) | EV |
O60282 | KIF5C | Kinesin heavy chain isoform 5C | Homo sapiens (Human) | EV |
Q12840 | KIF5A | Kinesin heavy chain isoform 5A | Homo sapiens (Human) | EV |
Q2M1P5 | KIF7 | Kinesin-like protein KIF7 | Homo sapiens (Human) | EV |
Q86VH2 | KIF27 | Kinesin-like protein KIF27 | Homo sapiens (Human) | SS |
Q7Z4S6 | KIF21A | Kinesin-like protein KIF21A | Homo sapiens (Human) | EV |
Q9P2E2 | KIF17 | Kinesin-like protein KIF17 | Homo sapiens (Human) | EV |
O00139 | KIF2A | Kinesin-like protein KIF2A | Homo sapiens (Human) | PR |
Q9NQT8 | KIF13B | Kinesin-like protein KIF13B | Homo sapiens (Human) | EV |
Q9H1H9 | KIF13A | Kinesin-like protein KIF13A | Homo sapiens (Human) | SS |
O43896 | KIF1C | Kinesin-like protein KIF1C | Homo sapiens (Human) | SS |
Q7M6Z4 | Kif27 | Kinesin-like protein KIF27 | Mus musculus (Mouse) | SS |
B7ZNG0 | Kif7 | Kinesin-like protein KIF7 | Mus musculus (Mouse) | SS |
Q9QXL2 | Kif21a | Kinesin-like protein KIF21A | Mus musculus (Mouse) | EV SS |
Q9QXL1 | Kif21b | Kinesin-like protein KIF21B | Mus musculus (Mouse) | SS |
Q7M6Z5 | Kif27 | Kinesin-like protein KIF27 | Rattus norvegicus (Rat) | SS |
F1M5N7 | Kif21b | Kinesin-like protein KIF21B | Rattus norvegicus (Rat) | SS |
Q58G59 | kif7 | Kinesin-like protein kif7 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
10 | 20 | 30 | 40 | 50 | 60 |
MAGQGDCCVK | VAVRIRPQLS | KEKIEGCHIC | TSVTPGEPQV | LLGKDKAFTY | DFVFDLDTWQ |
70 | 80 | 90 | 100 | 110 | 120 |
EQIYSTCVSK | LIEGCFEGYN | ATVLAYGQTG | AGKTYTMGTG | FDMATSEEEQ | GIIPRAIAHL |
130 | 140 | 150 | 160 | 170 | 180 |
FGGIAERKRR | AQEQGVAGPE | FKVSAQFLEL | YNEEILDLFD | STRDPDTRHR | RSNIKIHEDA |
190 | 200 | 210 | 220 | 230 | 240 |
NGGIYTTGVT | SRLIHSQEEL | IQCLKQGALS | RTTASTQMNV | QSSRSHAIFT | IHLCQMRMCT |
250 | 260 | 270 | 280 | 290 | 300 |
QPDLVNEAVT | GLPDGTPPSS | EYETLTAKFH | FVDLAGSERL | KRTGATGERA | KEGISINCGL |
310 | 320 | 330 | 340 | 350 | 360 |
LALGNVISAL | GDQSKKVVHV | PYRDSKLTRL | LQDSLGGNSQ | TIMIACVSPS | DRDFMETLNT |
370 | 380 | 390 | 400 | 410 | 420 |
LKYANRARNI | KNKVVVNQDK | TSQQISALRA | EIARLQMELM | EYKAGKRVIG | EDGAEGYSDL |
430 | 440 | 450 | 460 | 470 | 480 |
FRENAMLQKE | NGALRLRVKA | MQEAIDAINN | RVTQLMSQEA | NLLLAKAGDG | NEAIGALIQN |
490 | 500 | 510 | 520 | 530 | 540 |
YIREIEELRT | KLLESEAMNE | SLRRSLSRAS | ARSPYSLGAS | PAAPAFGGSP | ASSMEDASEV |
550 | 560 | 570 | 580 | 590 | 600 |
IRRAKQDLER | LKKKEVRQRR | KSPEKEAFKK | RAKLQQENSE | ETDENEAEEE | EEERDESGCE |
610 | 620 | 630 | 640 | 650 | 660 |
EEEGREDEDE | DSGSEESLVD | SDSDPEEKEV | NFQADLADLT | CEIEIKQKLI | DELENSQRRL |
670 | 680 | 690 | 700 | 710 | 720 |
QTLKHQYEEK | LILLQNKIRD | TQLERDRVLQ | NLSTMECYTE | EKANKIKADY | EKRLREMNRD |
730 | 740 | 750 | 760 | 770 | 780 |
LQKLQAAQKE | HARLLKNQSR | YERELKKLQA | EVAEMKKAKV | ALMKQMREEQ | QRRRLVETKR |
790 | 800 | 810 | 820 | 830 | 840 |
NREIAQLKKE | QRRQEFQIRA | LESQKRQQEM | VLRRKTQEVS | ALRRLAKPMS | ERVAGRAGLK |
850 | 860 | 870 | 880 | 890 | 900 |
PPMLDSGAEV | SASTTSSEAE | SGARSVSSIV | RQWNRKINHF | LGDHPAPTVN | GTRPARKKFQ |
910 | 920 | 930 | 940 | 950 | 960 |
KKGASQSFSK | AARLKWQSLE | RRIIDIVMQR | MTIVNLEADM | ERLIKKREEL | FLLQEALRRK |
970 | 980 | 990 | 1000 | 1010 | 1020 |
RERLQAESPE | EEKGLQELAE | EIEVLAANID | YINDGITDCQ | ATIVQLEETK | EELDSTDTSV |
1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
VISSCSLAEA | RLLLDNFLKA | SIDKGLQVAQ | KEAQIRLLEG | RLRQTDMAGS | SQNHLLLDAL |
1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
REKAEAHPEL | QALIYNVQQE | NGYASTDEEI | SEFSEGSFSQ | SFTMKGSTSH | DDFKFKSEPK |
1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
LSAQMKAVSA | ECLGPPLDIS | TKNITKSLAS | LVEIKEDGVG | FSVRDPYYRD | RVSRTVSLPT |
1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
RGSTFPRQSR | ATETSPLTRR | KSYDRGQPIR | STDVGFTPPS | SPPTRPRNDR | NVFSRLTSNQ |
1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
SQGSALDKSD | DSDSSLSEVL | RGIISPVGGA | KGARTAPLQC | VSMAEGHTKP | ILCLDATDEL |
1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
LFTGSKDRSC | KMWNLVTGQE | IAALKGHPNN | VVSIKYCSHS | GLVFSVSTSY | IKVWDIRDSA |
1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
KCIRTLTSSG | QVISGDACAA | TSTRAITSAQ | GEHQINQIAL | SPSGTMLYAA | SGNAVRIWEL |
1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
SRFQPVGKLT | GHIGPVMCLT | VTQTASQHDL | VVTGSKDHYV | KMFELGECVT | GTIGPTHNFE |
1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
PPHYDGIECL | AIQGDILFSG | SRDNGIKKWD | LDQQELIQQI | PNAHKDWVCA | LAFIPGRPML |
1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
LSACRAGVIK | VWNVDNFTPI | GEIKGHDSPI | NAICTNAKHI | FTASSDCRVK | LWNYVPGLTP |
1630 | |||||
CLPRRVLAIK | GRATTLP |