Q9Y5H7
PR
Gene name |
PCDHA5 (CNRS6) |
Protein name |
Protocadherin alpha-5 |
Names |
PCDH-alpha-5 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56143 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q9Y5H7
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y5H7-F1 | Predicted | AlphaFoldDB |
941 variants for Q9Y5H7
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000508600 CA3454461 rs150254638 |
793 | R>H | Hirschsprung disease, susceptibility to, 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA3447490 rs782545233 |
2 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1554128193 CA361204768 |
2 | V>I | No |
ClinGen gnomAD |
|
|
CA3447491 rs782688543 |
3 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199538378 CA361204816 |
5 | R>L | No |
ClinGen TOPMed |
|
|
COSM1433802 CA3447492 rs370639569 |
5 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs782220892 CA3447495 |
9 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782220892 CA361204844 |
9 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447496 rs782304287 |
10 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291478949 CA361204857 |
11 | S>Y | No |
ClinGen TOPMed |
|
|
CA361204895 rs919324883 |
15 | L>M | No |
ClinGen gnomAD |
|
|
CA361204908 rs1554128218 |
16 | L>F | No |
ClinGen gnomAD |
|
|
rs1390477821 CA361204917 |
16 | L>P | No |
ClinGen TOPMed |
|
|
rs1554128222 CA361204949 |
17 | W>C | No |
ClinGen gnomAD |
|
|
CA3447501 rs782083798 |
17 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1458334239 CA361204955 |
18 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA3447503 rs56285019 |
20 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs386692889 CA917595139 |
20 | L>F | No |
ClinGen Ensembl |
|
|
rs1554128244 CA361204995 |
21 | A>T | No |
ClinGen gnomAD |
|
|
CA361205006 rs1554128249 |
21 | A>V | No |
ClinGen gnomAD |
|
|
CA3447505 rs140580277 |
22 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361205030 rs140580277 |
22 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361205047 rs868967788 |
23 | W>* | No |
ClinGen Ensembl |
|
|
rs781911161 CA3447506 |
23 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 25 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3447507 rs782510685 |
25 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA361205117 rs1554128268 COSM136493 |
26 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3447508 rs201735874 |
27 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs17844287 CA3447509 |
28 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 28 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 28 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361205199 rs1489076733 |
29 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 29 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs553602343 CA3447510 |
29 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361205214 rs1268753327 |
30 | L>F | No |
ClinGen TOPMed |
|
|
rs1268753327 CA361205213 |
30 | L>V | No |
ClinGen TOPMed |
|
|
CA128343206 rs991114214 |
31 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs782184672 CA3447512 |
32 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
CA361205313 rs144627570 |
33 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3447513 rs144627570 |
33 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782681425 CA361205340 |
34 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447515 rs782681425 |
34 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554128286 CA361205337 |
34 | I>V | No |
ClinGen gnomAD |
|
|
CA361205358 rs879965828 |
35 | P>L | No |
ClinGen Ensembl |
|
|
CA3447517 rs782347242 |
35 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1302736713 CA361205380 |
36 | E>V | No |
ClinGen TOPMed |
|
|
rs868985416 CA361205386 |
37 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 38 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554128295 CA361205426 |
38 | A>V | No |
ClinGen gnomAD |
|
|
CA3447519 rs782177742 |
39 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA128343226 rs77769236 |
39 | K>I | No |
ClinGen 1000Genomes |
|
| TCGA novel | 40 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3447520 rs542288568 |
41 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM448747 rs267600387 CA128343229 |
41 | G>R | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA361205527 rs782025339 |
42 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447521 rs782025339 |
42 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782025339 CA361205526 |
42 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1360851482 CA361205551 |
43 | F>L | No |
ClinGen TOPMed |
|
|
rs782174780 CA3447522 |
44 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447523 rs782766843 |
44 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs782174780 COSM131351 CA361205562 |
44 | V>I | liver Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3447525 rs560866839 |
46 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782739980 CA3447526 |
46 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362323173 CA361205654 |
48 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1554128324 CA361205668 |
49 | Q>K | No |
ClinGen gnomAD |
|
|
CA3447529 rs782786453 |
50 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA361205780 rs1554128328 CA361205783 |
52 | G>R | No |
ClinGen gnomAD |
|
|
rs1197810699 CA361207813 |
54 | E>G | No |
ClinGen TOPMed |
|
|
rs1268289480 CA361205817 |
54 | E>Q | No |
ClinGen TOPMed |
|
|
rs1489594873 CA361207846 |
55 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1554128338 CA361207877 |
56 | A>E | No |
ClinGen gnomAD |
|
|
rs1554128338 CA361207882 |
56 | A>V | No |
ClinGen gnomAD |
|
|
CA361207943 rs1554128348 |
59 | V>G | No |
ClinGen gnomAD |
|
|
CA361207926 rs1484669831 CA361207921 |
59 | V>L | No |
ClinGen TOPMed |
|
|
CA3447533 rs782648661 |
60 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361207976 rs782648661 |
60 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3447534 rs112376305 |
61 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs112376305 CA128343258 |
61 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1562261815 CA361208054 |
63 | F>L | No |
ClinGen Ensembl |
|
|
CA361208105 rs1280808656 |
64 | R>L | No |
ClinGen TOPMed |
|
|
CA361208097 rs1280808656 |
64 | R>Q | No |
ClinGen TOPMed |
|
|
rs1341114422 CA361208111 |
65 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA128343278 rs782388820 |
66 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782440478 CA3447535 |
66 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3447536 rs782388820 |
66 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200581998 CA128343283 |
68 | K>N | No |
ClinGen gnomAD |
|
|
CA361208200 rs1554128359 |
69 | G>S | No |
ClinGen gnomAD |
|
|
rs1554128362 CA361208262 |
70 | R>H | No |
ClinGen gnomAD |
|
|
CA361208278 rs1554128367 |
71 | G>R | No |
ClinGen gnomAD |
|
| TCGA novel | 72 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3447540 rs1006572765 |
72 | D>G | No |
ClinGen TOPMed |
|
|
CA128343293 rs372036084 |
72 | D>H | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA128343289 rs372036084 |
72 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3447543 rs782349738 |
73 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361208450 rs1554128388 |
76 | V>E | No |
ClinGen gnomAD |
|
|
rs1554128389 CA361208490 |
77 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 78 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3447545 rs782047651 |
78 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA361208534 rs1479075815 |
79 | Q>* | No |
ClinGen TOPMed |
|
|
rs782700393 CA3447546 |
80 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA361208583 rs1193134042 |
81 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782010897 CA3447547 |
81 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1427056714 CA361208605 |
82 | I>V | No |
ClinGen TOPMed |
|
|
CA361208696 rs1258715639 |
85 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA361208685 rs1554128400 |
85 | V>M | No |
ClinGen gnomAD |
|
|
rs375153499 CA3447548 |
87 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1061976 rs1554128404 CA361208764 |
88 | R>Q | large_intestine Variant assessed as Somatic; impact. endometrium [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1318041408 CA361208803 |
90 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs782491036 CA3447551 |
91 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA361208946 rs551932692 |
94 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3447553 rs551932692 |
94 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3447555 rs782536726 |
96 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs997674203 CA361209010 |
96 | R>L | No |
ClinGen TOPMed |
|
|
CA128343325 rs997674203 |
96 | R>Q | No |
ClinGen TOPMed |
|
|
CA361209015 rs1341974527 |
97 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA361209025 rs199746737 |
98 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782517842 CA3447557 |
98 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447556 rs199746737 |
98 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554128427 CA361209066 |
99 | A>G | No |
ClinGen gnomAD |
|
|
rs1554128431 CA361209093 |
100 | E>G | No |
ClinGen gnomAD |
|
|
CA361209125 rs1554128432 |
101 | C>G | No |
ClinGen gnomAD |
|
|
CA361209209 rs1467211274 |
104 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3447559 rs782227527 |
105 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361209233 rs782227527 |
105 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581778965 CA361209289 |
107 | V>G | No |
ClinGen Ensembl |
|
|
CA361209299 rs1554128450 |
108 | I>N | No |
ClinGen Ensembl |
|
|
rs1554128447 CA361209292 |
108 | I>V | No |
ClinGen gnomAD |
|
|
CA361209323 rs1167780473 |
109 | V>L | No |
ClinGen TOPMed |
|
|
CA3447560 rs782309287 |
110 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs782577874 CA3447561 |
112 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361209431 rs1554128454 |
114 | Q>* | No |
ClinGen gnomAD |
|
|
rs1581779251 CA361209471 |
115 | V>G | No |
ClinGen Ensembl |
|
|
CA3447563 rs781940486 |
116 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1554128458 CA361209550 |
119 | E>Q | No |
ClinGen gnomAD |
|
|
rs1581779414 CA361209595 |
120 | V>G | No |
ClinGen Ensembl |
|
|
rs782071398 CA3447568 |
121 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA3447567 rs143698188 |
121 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3447570 rs781908189 |
122 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA3447571 rs782117740 |
123 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs782800067 CA3447572 |
125 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3447573 rs781824612 |
126 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361209742 rs1437850359 |
126 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3447575 rs782563439 |
128 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1554128474 CA361209800 |
128 | N>S | No |
ClinGen gnomAD |
|
|
rs782529172 CA3447577 |
130 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs782246170 CA3447579 |
131 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361209864 rs1554128482 |
131 | R>T | No |
ClinGen Ensembl |
|
|
CA361209905 rs1554128484 |
134 | R>G | No |
ClinGen gnomAD |
|
|
CA3447581 rs782383634 |
134 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs782328898 CA3447585 |
138 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1554128508 CA361210162 |
143 | E>Q | No |
ClinGen gnomAD |
|
|
rs949337780 CA128343377 |
145 | R>G | No |
ClinGen Ensembl |
|
|
rs1554128515 CA361210219 |
145 | R>K | No |
ClinGen gnomAD |
|
|
rs79852354 CA3447588 |
146 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361210283 rs1554128518 |
147 | P>T | No |
ClinGen gnomAD |
|
|
CA361210330 rs1554128520 |
148 | D>N | No |
ClinGen gnomAD |
|
|
CA3447589 rs782167936 |
149 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs782086860 CA3447593 |
150 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs782086860 CA3447592 |
150 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs782009759 CA3447591 |
150 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs781786079 CA3447594 |
151 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA361210464 rs1554128526 |
152 | P>S | No |
ClinGen gnomAD |
|
|
CA361210501 rs1554128532 |
154 | E>K | No |
ClinGen gnomAD |
|
|
rs936514432 CA128343384 |
156 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA361210545 rs1393571238 COSM173902 |
156 | A>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1424372692 CA361210558 |
157 | S>P | No |
ClinGen TOPMed |
|
|
CA361210589 rs1383794948 |
158 | D>Y | No |
ClinGen TOPMed |
|
|
CA3447598 rs782504516 |
161 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1470346995 CA361210725 |
163 | A>G | No |
ClinGen TOPMed |
|
|
CA361210755 rs1554128545 |
164 | N>K | No |
ClinGen gnomAD |
|
|
CA361210821 rs1554128551 |
167 | L>S | No |
ClinGen gnomAD |
|
|
CA128343398 rs1040745756 |
169 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3447603 rs782276385 |
169 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA361210880 rs782544085 |
170 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs782544085 CA3447604 |
170 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA3447606 rs782637000 |
173 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs782270445 CA361210990 |
175 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3447607 rs782270445 |
175 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781971856 CA3447609 |
178 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782351288 CA3447608 |
178 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447610 rs567330981 |
179 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1221684887 CA361211091 |
179 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3447611 rs782320594 |
180 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs886575240 CA128343415 |
183 | T>A | No |
ClinGen Ensembl |
|
|
rs782153560 CA3447613 |
183 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447614 rs1006404493 |
184 | N>K | No |
ClinGen TOPMed |
|
|
CA361211215 rs1554128562 |
185 | E>Q | No |
ClinGen gnomAD |
|
|
rs61730632 CA3447616 |
187 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361211301 rs1440067593 |
188 | T>M | No |
ClinGen TOPMed |
|
|
rs782003194 CA3447617 |
190 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1554128581 CA361211399 |
192 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 195 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782084408 CA3447618 |
195 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs782742140 CA3447619 |
196 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1554128594 CA361211654 |
200 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs782531661 CA361211650 |
200 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782531661 CA3447621 |
200 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 202 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782819169 CA3447622 |
202 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 203 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140694784 CA3447623 |
203 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361211741 rs1554128601 |
203 | E>K | No |
ClinGen gnomAD |
|
|
rs531534544 CA128343431 |
204 | T>I | No |
ClinGen gnomAD |
|
|
rs144625720 CA3447624 |
205 | Q>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs17844288 CA128343436 |
206 | E>G | No |
ClinGen Ensembl |
|
|
CA3447625 rs782610007 |
207 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA128343443 rs113016935 |
208 | R>C | No |
ClinGen gnomAD |
|
|
CA361211928 rs1554128615 |
208 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1554128617 CA361211939 |
209 | L>V | No |
ClinGen gnomAD |
|
|
rs571175580 CA128343447 |
211 | V>A | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1554128619 CA361212043 |
213 | A>T | No |
ClinGen gnomAD |
|
|
COSM1754035 rs1156477485 COSM4005870 CA361212057 |
213 | A>V | urinary_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA3447630 rs782269802 |
215 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs782269802 CA3447629 |
215 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1429396395 CA361212171 |
216 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs970705324 CA128343455 |
216 | G>R | No |
ClinGen Ensembl |
|
|
CA3447631 rs375142350 |
219 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA361212289 COSM205060 rs1489857640 |
220 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1554128638 CA361212348 |
223 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 226 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781969377 CA3447635 |
226 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs957844859 CA128343466 |
227 | L>F | No |
ClinGen Ensembl |
|
|
CA361212455 rs1222297221 |
227 | L>W | No |
ClinGen TOPMed gnomAD |
|
|
CA361212513 rs1554128658 |
231 | V>L | No |
ClinGen gnomAD |
|
|
CA128343474 rs782139513 |
233 | D>V | No |
ClinGen Ensembl |
|
|
CA361212577 rs1554128673 |
234 | A>G | No |
ClinGen gnomAD |
|
|
rs1554128664 CA361212564 |
234 | A>T | No |
ClinGen gnomAD |
|
|
CA361212580 rs1554128673 |
234 | A>V | No |
ClinGen gnomAD |
|
|
rs17853206 CA128343478 |
237 | N>S | No |
ClinGen Ensembl |
|
|
CA3447639 rs782114926 |
238 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782772237 CA3447640 |
240 | E>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 240 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1315716170 CA361212789 |
241 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1554128681 CA361212819 |
242 | D>Y | No |
ClinGen gnomAD |
|
|
CA361212908 rs1581783942 |
244 | S>F | No |
ClinGen Ensembl |
|
|
CA361212966 rs563348993 |
246 | Y>* | No |
ClinGen TOPMed |
|
|
CA3447642 rs572095130 |
246 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 247 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781842947 CA128343504 |
249 | R>G | No |
ClinGen Ensembl |
|
|
CA361213077 rs1554128686 |
249 | R>I | No |
ClinGen gnomAD |
|
|
rs1479400729 CA361213131 |
250 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs781812263 CA3447644 |
252 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs782706202 CA3447643 |
252 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3447645 rs536338859 |
253 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361213253 rs368780550 |
256 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3447647 rs368780550 |
256 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3447648 rs782523295 |
257 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA3447649 rs61730633 |
258 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782231931 CA3447650 |
259 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1462870943 CA361213384 |
262 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3447653 COSM246438 rs147998337 |
264 | N>K | prostate [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 264 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3393192 COSM3393194 rs1554128714 CA361213460 |
265 | A>T | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs782650133 CA128343525 |
266 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA3447654 rs782376561 |
267 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361213513 rs1554128720 |
268 | A>T | No |
ClinGen gnomAD |
|
|
rs372227717 CA3447658 |
270 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3393197 COSM3393195 rs772485263 CA128343533 |
270 | E>K | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs267600388 CA3447661 |
271 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267600388 CA3447660 |
271 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 272 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782790216 CA3447663 |
273 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447662 rs782790216 |
273 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361213682 rs1454231935 |
276 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA361213701 rs1335450895 |
277 | V>A | No |
ClinGen TOPMed |
|
|
CA3447664 rs782112787 |
277 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447665 rs782764385 |
280 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554128752 CA361213795 |
281 | S>G | No |
ClinGen gnomAD |
|
|
CA3447667 rs782476920 |
281 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554128758 CA361213865 |
284 | V>I | No |
ClinGen gnomAD |
|
|
CA361213884 rs1170983907 |
285 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1170983907 CA361213878 |
285 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs143650923 CA361213919 |
286 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3447671 rs147180015 |
287 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs267600389 CA128343551 |
287 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1562265840 CA361213961 |
288 | V>A | No |
ClinGen Ensembl |
|
|
CA3447672 rs782633984 |
288 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA128343555 rs17844290 |
289 | K>R | No |
ClinGen Ensembl |
|
|
CA361213995 rs1183246252 |
290 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1554128795 CA361214012 |
291 | K>N | No |
ClinGen gnomAD |
|
|
CA3447673 rs782268918 |
292 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3447674 rs782344472 |
294 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372905672 CA3447676 |
295 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782330112 CA3447678 |
295 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA3447677 rs782181583 |
295 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs782024232 CA3447679 |
296 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554128805 CA361214126 |
297 | N>H | No |
ClinGen gnomAD |
|
|
rs376028529 CA3447680 |
301 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361214239 rs1248673178 |
302 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA361214238 rs1248673178 |
302 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs532301540 CA128343579 |
302 | K>T | No |
ClinGen Ensembl |
|
|
CA3447681 rs782368020 |
305 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA128343582 rs374440265 |
305 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed |
|
CA361214340 rs781952803 |
306 | E>* | No |
ClinGen gnomAD |
|
|
CA128343588 rs781952803 |
306 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3447684 rs782757192 CA361214492 |
311 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3447683 rs782079169 |
311 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA361214518 rs1374875942 |
313 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3447685 rs17844292 |
318 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554128843 CA361214658 |
318 | N>T | No |
ClinGen gnomAD |
|
|
rs782065651 CA3447686 |
319 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361214702 rs1441365634 |
320 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3447688 rs140652619 |
321 | A>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3447687 COSM1061984 rs140652619 |
321 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3447689 rs144515035 |
322 | M>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA361214748 rs1554128869 |
322 | M>T | No |
ClinGen Ensembl |
|
|
rs1165429866 CA361214736 |
322 | M>V | No |
ClinGen TOPMed |
|
|
rs782500270 CA3447690 |
324 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs782500270 CA361214816 |
324 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs781845143 CA3447691 |
325 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1425005948 CA361214836 |
325 | S>I | No |
ClinGen TOPMed |
|
|
rs200831175 CA361214847 |
326 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3447692 rs200831175 |
326 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3447693 rs782646318 |
328 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447694 rs782646318 |
328 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 331 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3447696 rs782628678 |
334 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA128343628 rs17844293 |
334 | K>R | No |
ClinGen Ensembl |
|
| TCGA novel | 335 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361215092 rs1231627959 |
339 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1554128893 CA361215132 |
341 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 341 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3447699 rs558794478 |
343 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA3447698 rs576127698 |
343 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1562266772 CA361215189 |
344 | D>G | No |
ClinGen Ensembl |
|
|
CA361215180 rs1554128901 COSM4135446 COSM4135448 |
344 | D>Y | pancreas [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1554128906 CA361215203 |
345 | N>H | No |
ClinGen gnomAD |
|
|
rs781963445 CA3447701 |
346 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1581787426 CA361215233 |
346 | T>P | No |
ClinGen Ensembl |
|
|
rs1554128908 CA361215271 |
348 | E>G | No |
ClinGen gnomAD |
|
|
CA3447704 rs782017018 |
349 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs782173539 CA3447702 |
349 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782322042 CA3447703 COSM3661461 COSM1619596 |
349 | M>T | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 351 | I>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs61735511 CA3447705 |
353 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361215356 rs1581787630 |
353 | T>P | No |
ClinGen Ensembl |
|
| TCGA novel | 354 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554128913 CA361215382 |
355 | F>S | No |
ClinGen gnomAD |
|
|
rs1554128917 CA361215405 |
356 | L>P | No |
ClinGen gnomAD |
|
|
COSM236190 CA3447708 rs782102904 |
360 | E>G | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA3447707 rs375505389 |
360 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361215475 rs782102904 |
360 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1554128924 CA361215524 |
362 | A>G | No |
ClinGen gnomAD |
|
|
rs1554128922 CA361215517 |
362 | A>S | No |
ClinGen gnomAD |
|
|
rs1554128925 CA361215545 |
364 | L>F | No |
ClinGen gnomAD |
|
|
rs1370566710 CA361215586 |
366 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA361215608 rs1562267185 |
367 | V>A | No |
ClinGen Ensembl |
|
|
rs1554128927 CA361215611 |
368 | I>F | No |
ClinGen gnomAD |
|
|
rs1554128927 CA361215610 |
368 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361215624 rs1405488248 |
369 | A>T | No |
ClinGen TOPMed |
|
|
CA361215643 rs1554128939 |
370 | L>Q | No |
ClinGen gnomAD |
|
|
rs1554128942 CA361215674 |
372 | S>G | No |
ClinGen gnomAD |
|
|
CA128343658 rs976466535 |
372 | S>N | No |
ClinGen gnomAD |
|
|
rs782555053 CA3447711 |
372 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA361215681 rs976466535 |
372 | S>T | No |
ClinGen gnomAD |
|
|
rs782808800 CA3447713 |
373 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3447712 rs782808800 |
373 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3447714 rs139245496 |
375 | D>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361215717 rs1554128945 COSM313964 |
376 | R>S | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1554128946 CA361215744 |
378 | S>* | No |
ClinGen gnomAD |
|
|
rs1554128946 CA361215747 |
378 | S>L | No |
ClinGen gnomAD |
|
|
CA361215752 rs1554128947 |
379 | G>D | No |
ClinGen gnomAD |
|
|
CA361215762 rs149975240 |
380 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3447715 rs782599455 |
380 | A>T | No |
ClinGen ExAC |
|
|
rs149975240 CA3447716 |
380 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3447717 rs782433567 |
381 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA3447718 rs578178279 CA3447719 |
382 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3447720 rs782432187 |
383 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1160143508 CA361215802 |
384 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1418522514 CA361215813 |
385 | T>N | No |
ClinGen TOPMed |
|
|
CA3447722 rs782210844 |
386 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs782365322 CA3447723 |
387 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781925695 CA3447725 |
390 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs781925695 CA3447724 |
390 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1554128961 CA361215863 |
390 | P>S | No |
ClinGen gnomAD |
|
|
rs145265581 CA3447727 |
391 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3447726 rs782414204 |
391 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782104734 CA3447728 |
392 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs782785566 CA3447729 |
393 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs942334752 CA128343680 |
394 | F>V | No |
ClinGen TOPMed gnomAD |
|
|
rs797040706 CA361216829 |
397 | V>G | No |
ClinGen Ensembl |
|
|
rs868954365 CA361216838 |
398 | S>F | No |
ClinGen gnomAD |
|
|
rs868954365 CA361216834 |
398 | S>Y | No |
ClinGen gnomAD |
|
|
CA3447731 rs545323743 |
399 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560726927 CA3447733 |
400 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782536543 CA3447734 |
401 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs527840761 CA361216896 |
402 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs781872975 CA3447736 |
403 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361216935 rs1314541728 |
405 | S>A | No |
ClinGen TOPMed |
|
|
rs1284722647 CA361216942 |
405 | S>L | No |
ClinGen TOPMed |
|
|
CA3447738 rs542714925 |
407 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3447739 rs782629106 |
408 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA361216968 rs1281102719 |
409 | D>E | No |
ClinGen TOPMed |
|
|
rs7716092 CA3447741 |
410 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782670346 CA3447742 |
411 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA361216985 rs1289602070 |
412 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA361216983 rs1289602070 |
412 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs781993190 CA361216995 |
414 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1554129036 COSM4005871 COSM3240047 CA361216998 |
414 | R>H | urinary_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3447745 rs781993190 |
414 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA361217001 rs1386534416 |
415 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA361217000 rs1386534416 |
415 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs547093739 CA128343702 |
416 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA361217010 rs547093739 |
416 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3447746 rs148202782 |
416 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs547093739 CA361217011 |
416 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
COSM3661463 rs999470777 CA128343705 CA361217014 COSM1619598 |
417 | V>L | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs999470777 CA361217013 |
417 | V>M | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3447749 rs781912966 COSM1261283 |
418 | S>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA3447752 rs199730763 |
420 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA361217030 rs1554129062 |
420 | Y>H | No |
ClinGen gnomAD |
|
|
CA361217047 rs1554129074 |
422 | L>P | No |
ClinGen gnomAD |
|
|
rs140107313 CA3447756 |
426 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs140107313 COSM1433811 CA3447757 |
426 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA3447761 rs368673209 |
427 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782621396 CA3447763 |
428 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447764 rs782172716 |
429 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1261279 CA361217083 rs1229529443 |
429 | G>R | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA3447766 rs782012519 |
430 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3447765 rs532436075 |
430 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3447767 COSM3702720 COSM3702722 rs782012519 |
430 | G>V | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM736280 rs1381844487 CA361217095 |
431 | S>L | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA3447769 rs781949781 |
432 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA361217103 rs1581790921 |
433 | S>A | No |
ClinGen Ensembl |
|
|
CA361217112 rs1581791056 |
435 | W>G | No |
ClinGen Ensembl |
|
|
CA361217123 rs1171267979 |
436 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA3447772 rs782693975 |
436 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361217125 rs1171267979 |
436 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1581791161 CA361217126 |
437 | T>P | No |
ClinGen Ensembl |
|
|
rs144534621 CA3447774 |
438 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1554129125 CA361217136 |
438 | A>V | No |
ClinGen gnomAD |
|
|
rs782820486 CA3447775 |
439 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA361217142 rs369847577 |
439 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554129132 CA361217146 |
440 | V>A | No |
ClinGen gnomAD |
|
|
CA361217144 CA3447777 rs147205231 |
440 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3447778 rs147205231 |
440 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1554129134 CA361217149 |
441 | S>P | No |
ClinGen gnomAD |
|
|
CA361217158 rs1183844615 |
442 | V>A | No |
ClinGen TOPMed |
|
|
CA361217174 rs138806648 |
445 | A>P | No |
ClinGen ESP TOPMed |
|
|
CA128343795 rs138806648 |
445 | A>T | No |
ClinGen ESP TOPMed |
|
|
CA361217178 rs1197473169 |
445 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1554129150 CA361217186 |
446 | D>E | No |
ClinGen gnomAD |
|
|
rs1554129147 CA361217179 |
446 | D>Y | No |
ClinGen gnomAD |
|
|
CA3447779 rs565877933 |
447 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1554129151 CA361217195 |
448 | N>T | No |
ClinGen gnomAD |
|
|
rs868916716 CA128343798 |
449 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs868916716 COSM1061994 CA361217200 |
449 | D>N | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA3447781 rs61730629 |
450 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361217215 rs1554129157 |
451 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 451 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782270057 CA3447782 |
452 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317356250 CA361217242 |
455 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA361217244 rs1317356250 |
455 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 457 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1332340413 CA361217254 |
457 | P>S | No |
ClinGen TOPMed |
|
|
rs144629482 CA3447788 |
458 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361217270 rs1554129165 |
459 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 461 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369343347 CA3447792 |
461 | V>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs781947954 CA361217294 |
463 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3447793 rs781947954 COSM1061996 |
463 | V>M | Variant assessed as Somatic; 0.0 impact. urinary_tract endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA361217306 rs782693358 |
465 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782693358 CA3447796 |
465 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447797 rs569750117 |
466 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1554129177 CA361217317 |
466 | N>S | No |
ClinGen gnomAD |
|
|
rs782525887 CA3447798 |
467 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554129179 CA361217323 |
467 | N>T | No |
ClinGen Ensembl |
|
|
rs781852855 CA3447800 |
468 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA3447799 rs782817714 |
468 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA361217362 rs1554129190 |
473 | I>N | No |
ClinGen gnomAD |
|
|
rs143689350 CA3447806 |
475 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs973651325 CA128343880 |
477 | S>C | No |
ClinGen Ensembl |
|
| TCGA novel | 477 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3447810 rs782216490 |
479 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782665262 CA3447809 COSM3776259 COSM3776257 |
479 | R>W | urinary_tract Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA361217405 rs916835953 CA128343888 |
480 | D>E | No |
ClinGen TOPMed |
|
|
rs1554129201 CA361217411 COSM1433817 |
481 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1328701255 CA361217418 |
482 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1367836220 CA361217422 |
483 | A>E | No |
ClinGen TOPMed |
|
|
CA3447811 rs371306705 |
483 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3447813 rs782063831 |
484 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1423575450 CA361217447 CA361217446 |
486 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3447814 rs782404545 |
487 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1562270301 CA361217469 |
490 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 491 | Y>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269305597 CA361217523 |
494 | V>A | No |
ClinGen TOPMed |
|
|
CA3447822 rs782556581 |
496 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447821 COSM246436 rs781894789 |
496 | R>W | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA128343917 rs1052475502 |
497 | R>G | No |
ClinGen gnomAD |
|
|
CA361217555 rs1562270516 |
497 | R>P | No |
ClinGen Ensembl |
|
|
CA361217553 rs1052475502 |
497 | R>W | No |
ClinGen gnomAD |
|
|
CA3447824 rs781875469 |
498 | V>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1733259 rs1554129226 CA361217559 |
498 | V>L | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA361217573 rs1554129231 |
499 | G>A | No |
ClinGen gnomAD |
|
|
CA361217568 rs1554129230 |
499 | G>R | No |
ClinGen gnomAD |
|
|
rs893775587 CA128343922 |
500 | E>* | No |
ClinGen TOPMed |
|
|
CA361217586 rs368666935 |
500 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs572623188 CA3447826 |
500 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782323770 CA361217595 |
501 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3447828 rs782323770 |
501 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542778665 CA3447829 |
501 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs542778665 CA361217597 |
501 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs150026852 CA3447831 |
502 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140654699 CA3447830 |
502 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361217677 rs1401000210 |
506 | Y>* | No |
ClinGen TOPMed |
|
|
rs1383597975 CA361217696 |
507 | V>A | No |
ClinGen TOPMed |
|
|
CA3447833 rs782079862 |
507 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361217711 rs1554129247 |
508 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361217746 rs1554129250 |
510 | H>Q | No |
ClinGen gnomAD |
|
|
COSM1541666 rs781935410 CA361217753 |
511 | A>S | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3447835 rs781935410 |
511 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361217761 rs1581794358 |
511 | A>V | No |
ClinGen Ensembl |
|
|
CA3447837 rs782814262 |
512 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447839 rs781864072 |
514 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447838 rs781864072 |
514 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554129257 CA361217820 |
514 | G>V | No |
ClinGen gnomAD |
|
|
rs145418999 CA3447840 |
515 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145418999 CA361217823 |
515 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782587996 CA3447844 |
517 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs561079678 COSM1062000 CA3447843 |
517 | Y>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA361217922 rs1554129274 |
518 | A>T | No |
ClinGen gnomAD |
|
|
rs1554129275 CA361217957 |
520 | Q>E | No |
ClinGen TOPMed |
|
|
rs143184133 CA128343963 |
523 | D>N | No |
ClinGen Ensembl |
|
|
rs1219164489 CA361218061 |
524 | H>P | No |
ClinGen TOPMed |
|
|
CA361218059 rs1264237744 COSM1541664 |
524 | H>Y | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs782629988 CA3447848 |
525 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 525 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM283799 CA3447847 rs782629988 |
525 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA361218114 rs1272348746 |
526 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs951193537 CA128343980 |
527 | V>A | No |
ClinGen Ensembl |
|
|
CA3447850 rs782610156 |
527 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782404752 CA3447853 |
529 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447852 rs782404752 |
529 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470640408 CA361218206 |
529 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs782236445 CA3447854 |
531 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1412752639 CA361218274 |
533 | Q>R | No |
ClinGen TOPMed |
|
|
CA3447857 rs782094232 |
534 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447856 rs781943556 |
534 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361218320 rs1562271517 |
535 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs200463880 CA361218335 |
535 | S>I | No |
ClinGen gnomAD |
|
|
rs782708601 CA3447858 CA361218339 |
535 | S>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200463880 CA128344002 |
535 | S>T | No |
ClinGen gnomAD |
|
|
rs781942385 CA3447860 COSM448751 |
536 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA3447862 rs782806803 COSM1261285 |
537 | R>C | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1554129313 CA361218372 |
537 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361218394 rs199642773 CA361218397 |
538 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210016540 CA361218387 |
538 | D>Y | No |
ClinGen TOPMed |
|
|
CA361218407 rs1554129322 |
539 | A>G | No |
ClinGen gnomAD |
|
|
CA3447865 rs371642015 |
539 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA128344026 rs17844295 |
541 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs17844295 CA361218424 |
541 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA128344033 rs935511900 |
542 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1554129329 CA361218461 |
543 | P>L | No |
ClinGen gnomAD |
|
|
rs782288410 CA3447870 |
543 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs143450009 COSM1541660 CA3447871 |
545 | G>S | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1301811435 CA361218514 CA361218517 |
547 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs893902736 CA128344047 |
548 | V>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 548 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3447872 rs782637737 |
549 | T>K | No |
ClinGen ExAC gnomAD |
|
|
CA3447873 rs782637737 |
549 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs781914066 CA3447875 |
551 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782205967 CA3447876 |
554 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782205967 CA361218601 |
554 | V>M | Variant assessed as Somatic; 4.649e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs946721511 CA128344056 |
555 | L>P | No |
ClinGen gnomAD |
|
|
CA3447877 rs201739706 |
557 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1446735844 CA361218664 |
558 | N>S | No |
ClinGen TOPMed |
|
|
CA3447880 rs782115611 |
559 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA3447882 rs782101112 |
561 | A>P | No |
ClinGen ExAC |
|
|
CA361218716 rs1181395519 |
561 | A>V | No |
ClinGen TOPMed |
|
|
COSM3696952 rs782699319 COSM3696954 CA3447883 |
562 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA361218745 rs880001933 |
563 | A>E | No |
ClinGen gnomAD |
|
| TCGA novel | 563 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782551686 CA3447885 |
566 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361218780 rs1554129365 |
566 | V>M | No |
ClinGen gnomAD |
|
|
CA128344081 rs17844296 |
567 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA361218810 rs1554129369 |
568 | R>* | No |
ClinGen gnomAD |
|
|
CA3447887 rs781868655 |
568 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3447888 rs782459189 |
570 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs150930880 CA3447889 |
571 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150930880 CA361218850 |
571 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781783130 CA361218861 |
572 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3447890 rs781783130 |
572 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs886912020 CA128344093 |
573 | G>C | No |
ClinGen TOPMed |
|
| TCGA novel | 573 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs886912020 CA361218867 |
573 | G>R | No |
ClinGen TOPMed |
|
|
rs886912020 CA361218865 COSM1433823 |
573 | G>S | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA128344094 rs1004067167 |
574 | G>C | No |
ClinGen TOPMed |
|
|
rs1554129382 CA361218886 |
575 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361218897 rs1554129384 |
576 | V>M | No |
ClinGen gnomAD |
|
|
rs1426749221 CA361218922 |
578 | E>Q | No |
ClinGen TOPMed |
|
|
CA361218959 rs1164371267 |
581 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361218961 rs1164371267 |
581 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs782212912 CA3447897 |
582 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361218979 rs1554129392 |
583 | S>L | No |
ClinGen gnomAD |
|
|
CA361218972 rs1562272791 |
583 | S>P | No |
ClinGen Ensembl |
|
|
rs781921452 CA3447899 |
584 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA361218993 rs1554129396 |
585 | G>D | No |
ClinGen gnomAD |
|
|
rs138704270 CA3447901 |
586 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782149130 CA3447900 |
586 | A>T | No |
ClinGen ExAC |
|
|
rs138704270 CA361219004 |
586 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3447902 rs781985511 |
587 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447903 rs782123758 |
588 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 589 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554129415 CA361219033 |
590 | V>M | No |
ClinGen gnomAD |
|
|
rs1264438585 CA361219045 |
591 | A>S | No |
ClinGen TOPMed |
|
|
rs1218932812 CA361219051 |
591 | A>V | No |
ClinGen TOPMed |
|
|
CA3447905 rs781830705 |
593 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447904 rs782738834 |
593 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3447907 COSM2156172 COSM3409828 rs782698382 |
594 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3447908 rs565800184 |
595 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361219115 rs1348604004 |
597 | D>H | No |
ClinGen TOPMed |
|
|
rs782558922 CA361219136 |
598 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs782558922 CA361219139 |
598 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs782558922 CA3447909 |
598 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs782642840 CA3447910 |
599 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM233057 rs529947743 CA3447911 |
600 | S>L | lung Variant assessed as Somatic; 0.0 impact. skin [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs782627445 CA3447913 |
601 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1389760827 CA361219181 |
601 | G>D | No |
ClinGen TOPMed |
|
|
rs782627445 CA361219175 |
601 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs782178353 CA3447914 |
604 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA361219324 rs868924111 |
607 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1562273356 CA361219313 |
607 | S>P | No |
ClinGen Ensembl |
|
|
rs1554129472 CA361219353 |
608 | Y>* | No |
ClinGen gnomAD |
|
|
rs782247792 CA361219378 |
610 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA361219412 rs1554129478 |
612 | P>A | No |
ClinGen gnomAD |
|
|
CA361219414 rs1554129478 |
612 | P>S | No |
ClinGen gnomAD |
|
|
CA128344153 rs982296452 |
613 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3447921 rs782389175 |
614 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs781952074 CA3447922 |
616 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs537134369 CA3447924 |
617 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361219517 rs537134369 |
617 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1434058728 CA361219537 |
618 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1434058728 CA361219535 |
618 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1202244772 CA361219530 |
618 | R>S | No |
ClinGen TOPMed |
|
|
rs367738406 CA3447927 |
620 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361219569 rs367738406 |
620 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs17844297 CA128344203 |
621 | F>S | No |
ClinGen TOPMed |
|
|
rs17844297 CA361219587 |
621 | F>Y | No |
ClinGen TOPMed |
|
|
rs1207505503 CA361219608 |
622 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1326482790 CA361219610 |
622 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA361219611 rs1326482790 |
622 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs138093911 CA361219619 |
623 | V>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs138093911 CA3447930 |
623 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA3447931 rs149534551 |
624 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554129535 CA361219696 |
630 | I>F | No |
ClinGen gnomAD |
|
|
CA3447936 rs782494638 |
630 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447938 rs558328575 |
631 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782484236 CA3447939 |
631 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1434393757 CA361219720 |
632 | T>R | No |
ClinGen TOPMed |
|
|
CA128344246 rs946828045 |
633 | T>A | No |
ClinGen Ensembl |
|
|
CA3447941 rs782184919 |
634 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs782401995 CA3447942 |
634 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361219758 rs1554129546 |
637 | D>Y | No |
ClinGen gnomAD |
|
|
rs868991704 CA361219793 |
639 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs868991704 CA361219790 |
639 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA361219806 rs1554129549 |
640 | E>D | No |
ClinGen gnomAD |
|
| TCGA novel | 640 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128344250 rs565409158 |
641 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA3447943 rs144257451 |
642 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs144257451 CA3447944 |
642 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1377406671 CA361219822 |
642 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA361219828 rs1554129555 |
643 | R>G | No |
ClinGen gnomAD |
|
|
rs1562274282 COSM362380 CA361219831 |
643 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1430700090 CA361219851 |
645 | R>C | No |
ClinGen TOPMed |
|
|
rs782395290 CA361219853 COSM1433827 |
645 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs782395290 CA361219855 |
645 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782395290 CA3447945 |
645 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140011920 CA3447946 |
650 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA361219913 rs1244512235 |
652 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs781957132 CA3447948 |
653 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447950 rs782144384 |
653 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs781957132 CA3447949 |
653 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554129568 CA361219927 |
653 | H>Y | No |
ClinGen Ensembl |
|
| TCGA novel | 655 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782777236 CA361219953 |
656 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782777236 CA361219955 |
656 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782777236 CA3447951 |
656 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447954 rs782470144 |
657 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782470144 CA361219964 |
657 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782470144 CA3447953 |
657 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447952 rs781869273 |
657 | P>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 658 | L>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361219969 rs1554129587 |
658 | L>Q | No |
ClinGen gnomAD |
|
|
CA3447955 rs781786406 |
659 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781786406 CA361219975 |
659 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447956 rs373747493 |
662 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3447957 rs782657930 |
662 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs782282514 CA3447958 |
663 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs782666827 CA3447960 |
665 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs782363041 CA3447962 |
666 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361220051 rs781926192 |
667 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA3447963 rs781926192 |
667 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA128344295 rs570864987 |
668 | L>P | No |
ClinGen gnomAD |
|
|
rs570864987 CA361220059 |
668 | L>Q | No |
ClinGen gnomAD |
|
|
CA361220066 rs1554129605 |
669 | V>E | No |
ClinGen gnomAD |
|
|
rs782407136 CA3447965 |
669 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1554129608 CA361220127 |
674 | A>G | No |
ClinGen gnomAD |
|
|
rs1463796705 CA361220134 |
675 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs782334570 CA3447968 |
677 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782334570 CA361220153 |
677 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361220191 rs1554129612 |
679 | S>* | No |
ClinGen gnomAD |
|
| TCGA novel | 679 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3447970 rs782047530 |
680 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA361220216 rs1447346470 |
681 | A>T | No |
ClinGen TOPMed |
|
|
COSM1261281 CA3447971 rs782711344 |
682 | S>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM3393203 rs572635793 CA3447972 COSM3393201 |
683 | A>V | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA3447975 rs782068538 |
684 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361220288 rs1554129621 |
685 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 685 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361220314 rs1554129625 |
686 | V>G | No |
ClinGen gnomAD |
|
|
CA361220316 rs1197490910 |
687 | G>S | No |
ClinGen TOPMed |
|
|
rs17844298 CA3447976 |
689 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3447977 VAR_048526 rs4141841 |
691 | A>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA361220444 rs1554129635 |
694 | D>E | No |
ClinGen gnomAD |
|
|
rs781793030 CA3447978 |
694 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA3447980 CA3447981 rs139591086 |
696 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782456365 CA3447979 |
696 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA361220484 rs1554129638 |
697 | V>E | No |
ClinGen gnomAD |
|
|
rs1317473064 CA361220481 |
697 | V>L | No |
ClinGen TOPMed |
|
|
rs1317473064 COSM1261275 CA361220480 |
697 | V>M | oesophagus Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs782609218 CA3447983 |
698 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 699 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3447984 rs565188597 |
700 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1311118204 CA361220532 |
701 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1554129642 CA361220537 |
701 | I>T | No |
ClinGen gnomAD |
|
|
CA361220549 COSM262772 rs1307861296 |
702 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs781930012 CA3447986 |
702 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs541048473 CA3447988 |
704 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3447989 rs761682978 |
705 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761682978 CA3447990 |
705 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782729440 CA3447991 |
708 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs988322767 CA128344424 |
708 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs781844214 CA3447992 |
709 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs782050023 CA361220693 |
711 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782050023 CA3447993 |
711 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3447994 rs372878509 |
712 | L>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs769562373 CA3447996 COSM1567458 |
713 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs781825514 CA3447998 |
715 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1490786754 CA361220739 |
716 | L>Q | No |
ClinGen TOPMed |
|
|
CA3448000 rs782493360 |
717 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs782493360 CA361220749 |
717 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
COSM3393204 rs1554129666 CA361220777 COSM241071 |
719 | A>T | Variant assessed as Somatic; 0.0 impact. pancreas large_intestine prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs868968697 CA361220806 |
721 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs868968697 CA361220805 |
721 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs868968697 CA361220802 |
721 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3448005 rs782241842 |
722 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371082985 CA3448006 |
723 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3448008 rs782237565 |
725 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs908451441 CA361220879 |
726 | P>L | No |
ClinGen gnomAD |
|
|
rs908451441 CA128344521 |
726 | P>R | No |
ClinGen gnomAD |
|
|
rs1408335072 CA361220885 |
727 | T>A | No |
ClinGen TOPMed |
|
|
rs1562276026 CA361220897 |
727 | T>N | No |
ClinGen Ensembl |
|
|
rs191497891 CA3448011 |
728 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1554129674 CA361220929 |
729 | A>T | No |
ClinGen gnomAD |
|
|
CA3448014 rs782083495 |
730 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1554129675 CA361220955 COSM1542024 |
730 | V>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA361220970 rs1457344203 |
731 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
CA361220968 rs1457344203 |
731 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs140039635 CA361221003 |
733 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3448016 rs140039635 |
733 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1247134130 COSM1542022 CA361221035 |
734 | G>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs781897803 CA3448022 |
735 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs1554129682 CA361221052 |
735 | K>R | No |
ClinGen gnomAD |
|
|
CA361221960 rs1451296984 |
738 | L>M | No |
ClinGen TOPMed |
|
| TCGA novel | 738 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361221972 rs782496576 |
739 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA3448025 rs782223446 |
739 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3448026 rs782496576 |
739 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs1554129684 CA361221994 |
741 | S>C | No |
ClinGen gnomAD |
|
|
rs782575345 CA3448027 |
742 | S>N | No |
ClinGen ExAC gnomAD |
|
|
COSM589650 CA361222007 rs1210626259 |
742 | S>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1554129685 CA361222013 |
743 | A>S | No |
ClinGen gnomAD |
|
|
rs782405093 CA3448029 |
744 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs782033123 CA3448030 |
745 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347563887 CA361222046 |
746 | S>R | No |
ClinGen TOPMed |
|
|
rs782242344 CA3448032 |
747 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3448034 rs781965258 |
748 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782340881 CA3448033 |
748 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA361222067 rs781965258 |
748 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs906987166 CA128344598 |
750 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs201009574 CA128344595 |
750 | S>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 751 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156849196 CA361222147 |
751 | Q>H | No |
ClinGen TOPMed |
|
|
CA361222120 rs1387280043 |
751 | Q>K | No |
ClinGen TOPMed |
|
|
rs1470946833 CA361222157 |
752 | Q>* | No |
ClinGen TOPMed |
|
|
CA361222205 rs1425574888 |
755 | Q>E | No |
ClinGen TOPMed |
|
|
TCGA novel rs1581805643 CA361222258 |
757 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs1171823405 CA361222322 |
760 | G>V | No |
ClinGen TOPMed |
|
|
CA3448037 rs782011961 |
762 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375328136 CA3448039 |
763 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3448038 rs782157361 |
763 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554129713 CA361222383 |
764 | P>H | No |
ClinGen gnomAD |
|
|
rs781864798 CA3448040 |
765 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA361222454 rs1465400028 |
769 | M>I | No |
ClinGen TOPMed |
|
|
rs781799131 CA3448043 |
769 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA3448042 rs782752626 |
769 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1554129716 CA361222458 |
770 | A>P | No |
ClinGen gnomAD |
|
|
rs1247556013 CA361222467 |
770 | A>V | No |
ClinGen TOPMed |
|
|
rs145264014 CA3448044 |
771 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3448045 COSM482079 rs782668239 |
772 | S>I | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3448046 rs782294510 |
773 | P>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3448047 rs782513292 |
774 | S>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1741502 CA3448048 rs546256654 |
774 | S>N | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA3448049 rs782224845 |
776 | P>L | No |
ClinGen ExAC |
|
|
rs141975967 CA3448050 |
777 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3448051 rs782586081 |
777 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA3448052 rs782278628 |
778 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs145740989 CA3448053 |
779 | P>R | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1581806457 CA361222626 |
780 | T>A | No |
ClinGen Ensembl |
|
|
CA361222635 rs1218962389 |
780 | T>I | No |
ClinGen TOPMed |
|
|
CA128344681 rs782154722 |
781 | S>Y | No |
ClinGen Ensembl |
|
|
rs1343333286 CA361222661 |
782 | T>A | No |
ClinGen TOPMed |
|
|
CA3448054 rs376548330 |
783 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361222688 rs1554129733 |
783 | D>V | No |
ClinGen gnomAD |
|
| TCGA novel | 783 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370659144 CA3448056 CA361222712 |
784 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs536541695 CA3448055 |
784 | N>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782073950 CA3454452 |
785 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA361259520 rs1490306705 |
785 | P>S | No |
ClinGen TOPMed |
|
|
rs374951627 CA3454453 |
786 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781913955 CA3454454 |
786 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA3454455 rs781913955 |
786 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs782109224 CA3454458 |
791 | D>H | No |
ClinGen ExAC |
|
|
COSM3696815 COSM3696819 COSM3696826 COSM3696817 CA3454459 COSM3696814 COSM3696822 COSM3696816 COSM3696828 COSM3696812 COSM3696820 rs782774245 COSM3696813 COSM3696823 COSM3696825 COSM3696821 COSM3696827 COSM3696818 COSM3696824 |
792 | W>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA361259640 rs782774245 |
792 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA3454460 rs141879545 |
793 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3454463 rs781815387 |
796 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138901709 CA3454464 |
797 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782686641 CA3454465 |
798 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1363421000 CA361259736 |
799 | R>I | No |
ClinGen TOPMed |
|
|
rs1586790986 CA361259751 |
800 | A>G | No |
ClinGen Ensembl |
|
|
CA3454466 rs782253140 |
801 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3454467 rs782336746 |
802 | M>V | No |
ClinGen ExAC |
|
|
CA361259787 rs1554240128 |
803 | H>N | No |
ClinGen gnomAD |
|
|
rs149397164 CA3454468 |
804 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782426631 CA3454484 |
805 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782587733 CA3454485 |
805 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs782426631 CA361260538 |
805 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181664726 CA361260559 |
806 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA361260577 rs1554244276 |
807 | H>P | No |
ClinGen gnomAD |
|
|
COSM1062442 COSM1062448 COSM1062450 rs782273708 COSM1062445 COSM1062454 COSM1062455 COSM1062443 COSM1062452 COSM1062456 COSM1062457 COSM1062451 COSM1062453 COSM1062449 COSM1062447 CA3454486 COSM1062444 |
807 | H>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3454488 rs782634646 |
809 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3454487 rs782419098 |
809 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs147537783 CA3454489 |
810 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs981642614 CA128362369 |
811 | A>T | No |
ClinGen Ensembl |
|
|
rs782347331 CA3454490 |
812 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361260711 rs1468199443 |
813 | I>V | No |
ClinGen TOPMed |
|
|
rs555523473 CA3454493 |
815 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139355257 CA3454492 |
815 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782025005 CA3454494 |
817 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361260802 rs1278779763 |
818 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3454495 rs201991205 |
820 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3454497 rs201572428 |
822 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3454496 rs782766562 |
822 | D>V | No |
ClinGen ExAC |
|
|
rs1554244431 CA361260933 |
824 | Q>R | No |
ClinGen gnomAD |
|
|
CA3454498 rs782094765 |
825 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA3454499 RCV000950135 rs79247475 |
826 | P>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA128362405 rs369053351 |
826 | P>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1554244455 CA361260996 |
827 | T>A | No |
ClinGen gnomAD |
|
|
CA3454501 rs782544627 |
828 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3454502 rs577838197 |
830 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3454504 rs781852534 |
830 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs781852534 CA3454503 |
830 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs782605920 CA3454505 |
830 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs199851685 CA3454506 |
832 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3454507 rs782437404 |
833 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs560422677 CA3454508 |
833 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs560422677 CA3454509 |
833 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361261129 rs782437404 |
833 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs782179145 CA3454531 |
834 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3454532 rs782321757 |
837 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554262240 CA361268348 |
839 | E>G | No |
ClinGen gnomAD |
|
|
rs781996586 CA3454536 |
845 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1179266 rs782079089 COSM1179264 COSM1179272 COSM1179273 COSM1179269 COSM1179270 COSM1179277 COSM1179268 COSM1179263 COSM1179271 COSM1179278 COSM1179275 COSM1179276 COSM1179265 CA3454537 COSM1179267 COSM1179274 |
846 | A>V | lung prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1588246273 CA361268557 |
848 | V>G | No |
ClinGen Ensembl |
|
|
CA3454540 rs782068657 |
848 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1563727066 CA361268679 |
852 | S>N | No |
ClinGen Ensembl |
|
|
COSM139598 COSM139601 COSM139604 COSM139606 COSM139609 COSM139603 COSM139600 COSM139611 COSM139608 rs1554262287 COSM139599 COSM139607 COSM139602 COSM139605 COSM139610 CA361268865 |
858 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs900919931 CA128372514 |
858 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1554262289 CA361268920 |
860 | G>D | No |
ClinGen gnomAD |
|
|
CA3454542 rs575518914 |
862 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175529844 CA361268995 |
863 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3454543 rs782119637 |
865 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3454546 rs552954748 |
866 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552954748 CA3454545 |
866 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373683237 CA3454547 |
867 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1486746921 CA361269173 |
868 | G>S | No |
ClinGen TOPMed |
|
|
CA128372547 rs1057913 |
872 | D>A | No |
ClinGen Ensembl |
|
|
rs371269236 CA3454551 |
872 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3454552 rs782334415 |
873 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3454553 rs782623559 |
876 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3454555 rs782328874 |
877 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3454556 rs200822345 |
878 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3454559 rs782009776 |
882 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142720081 CA361269729 |
882 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3454558 rs142720081 |
882 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782087059 CA3454560 |
883 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1289763016 CA361269834 |
885 | I>V | No |
ClinGen TOPMed |
|
|
rs760426957 CA3454562 |
886 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1166265 COSM1166271 COSM1166266 COSM1166268 COSM1166267 COSM1166273 COSM1166276 COSM1166277 COSM1166272 COSM1166264 COSM1166279 rs147351924 CA3454561 COSM1166275 COSM1166269 COSM1166278 COSM1166270 COSM1166274 |
886 | R>W | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA361269875 rs1554262408 |
887 | Q>K | No |
ClinGen gnomAD |
|
|
CA361269953 rs1554262420 |
889 | P>A | No |
ClinGen gnomAD |
|
|
CA361269962 rs1359138927 |
889 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1314860754 CA361269972 |
890 | T>A | No |
ClinGen TOPMed |
|
|
CA361270002 rs1554262437 |
891 | N>K | No |
ClinGen TOPMed |
|
|
CA3454564 rs148436868 |
892 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1554262456 CA361270119 |
894 | I>T | No |
ClinGen gnomAD |
|
|
rs781853535 CA3454565 |
894 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529364872 CA128372646 |
895 | D>E | No |
ClinGen Ensembl |
|
|
CA3454567 rs142570778 |
895 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128372638 rs782057926 |
895 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3454568 rs781835321 |
896 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs782451974 CA3454569 |
899 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3454570 rs782578873 |
901 | T>I | No |
ClinGen ExAC |
|
|
rs782274123 CA3454571 |
902 | F>S | No |
ClinGen ExAC gnomAD |
|
|
COSM216699 COSM216705 CA3454573 COSM216710 rs782642898 COSM1158471 COSM216696 COSM216700 COSM216702 COSM216709 COSM216704 COSM216698 COSM216697 COSM216706 COSM216707 COSM216701 COSM216703 COSM216708 |
903 | G>S | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3454574 rs782270689 |
905 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs782270689 CA361270554 |
905 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1259591783 CA361270565 |
906 | E>Q | No |
ClinGen TOPMed |
|
|
CA361270593 rs1554262487 |
907 | E>D | No |
ClinGen gnomAD |
|
|
CA3454575 rs782348993 |
908 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs781972089 CA3454577 |
909 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1554262492 CA361270633 |
909 | K>R | No |
ClinGen gnomAD |
|
|
rs374660085 CA3454578 |
914 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361270828 rs1554262513 |
915 | K>R | No |
ClinGen gnomAD |
|
|
CA3454579 rs782413551 |
916 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782413551 CA361270853 |
916 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1307653192 CA361270984 |
919 | K>N | No |
ClinGen TOPMed |
|
|
CA128372721 rs184181976 |
919 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs1554262529 CA361271070 |
922 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs782776948 CA3454583 |
924 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3454584 rs781954349 |
927 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361271296 rs1295693430 |
928 | N>D | No |
ClinGen TOPMed |
|
|
rs1554262551 CA361271322 |
928 | N>K | No |
ClinGen gnomAD |
|
|
CA361271306 rs1415929182 |
928 | N>S | No |
ClinGen TOPMed |
|
|
CA128372734 rs958247947 |
929 | S>G | No |
ClinGen Ensembl |
|
|
CA128372735 rs17855798 |
929 | S>N | No |
ClinGen Ensembl |
|
|
COSM1434122 COSM1434119 CA3454585 COSM1434134 COSM1434133 COSM1434130 COSM1434131 COSM1434125 COSM1434126 COSM1434124 COSM1434127 COSM1434129 COSM1434121 COSM1434120 COSM1434123 rs199928168 COSM1434128 COSM1434132 |
930 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA361271405 rs1301104421 |
931 | T>A | No |
ClinGen TOPMed |
|
|
CA361271440 rs1554262572 |
932 | D>E | No |
ClinGen gnomAD |
|
|
CA361271462 rs1463725058 |
933 | N>Y | No |
ClinGen TOPMed |
No associated diseases with Q9Y5H7
10 regional properties for Q9Y5H7
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | UVR domain | 511 - 546 | IPR001943 |
| domain | AAA+ ATPase domain | 294 - 434 | IPR003593-1 |
| domain | AAA+ ATPase domain | 637 - 818 | IPR003593-2 |
| domain | ATPase, AAA-type, core | 299 - 415 | IPR003959-1 |
| domain | ATPase, AAA-type, core | 636 - 810 | IPR003959-2 |
| domain | Clp, repeat (R) domain | 95 - 237 | IPR004176 |
| conserved_site | ClpA/B, conserved site 1 | 389 - 401 | IPR018368 |
| domain | Clp ATPase, C-terminal | 817 - 907 | IPR019489 |
| conserved_site | ClpA/B, conserved site 2 | 671 - 689 | IPR028299 |
| domain | ClpA/ClpB, AAA lid domain | 437 - 538 | IPR041546 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| calcium ion binding | Binding to a calcium ion (Ca2+). |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| homophilic cell adhesion via plasma membrane adhesion molecules | The attachment of a plasma membrane adhesion molecule in one cell to an identical molecule in an adjacent cell. |
| nervous system development | The process whose specific outcome is the progression of nervous tissue over time, from its formation to its mature state. |
45 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SWX5 | CDH6 | Cadherin-6 | Bos taurus (Bovine) | PR |
| P79995 | CDH10 | Cadherin-10 | Gallus gallus (Chicken) | PR |
| Q8UVJ7 | CDHR1 | Cadherin-related family member 1 | Gallus gallus (Chicken) | PR |
| Q5DRC8 | PCDHB6 | Protocadherin beta-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE4 | PCDHA8 | Protocadherin alpha-8 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE6 | PCDHA6 | Protocadherin alpha-6 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRF0 | PCDHA2 | Protocadherin alpha-2 | Pan troglodytes (Chimpanzee) | PR |
| Q5DRE7 | PCDHA5 | Protocadherin alpha-5 | Pan troglodytes (Chimpanzee) | PR |
| Q9VJB6 | CadN2 | Putative neural-cadherin 2 | Drosophila melanogaster (Fruit fly) | PR |
| Q9ULB4 | CDH9 | Cadherin-9 | Homo sapiens (Human) | PR |
| P12830 | CDH1 | Cadherin-1 | Homo sapiens (Human) | PR |
| Q9H159 | CDH19 | Cadherin-19 | Homo sapiens (Human) | PR |
| Q9Y6N8 | CDH10 | Cadherin-10 | Homo sapiens (Human) | PR |
| P55285 | CDH6 | Cadherin-6 | Homo sapiens (Human) | PR |
| P19022 | CDH2 | Cadherin-2 | Homo sapiens (Human) | PR |
| Q6ZTQ4 | CDHR3 | Cadherin-related family member 3 | Homo sapiens (Human) | PR |
| Q9BZA8 | PCDH11Y | Protocadherin-11 Y-linked | Homo sapiens (Human) | PR |
| Q08174 | PCDH1 | Protocadherin-1 | Homo sapiens (Human) | PR |
| Q9HC56 | PCDH9 | Protocadherin-9 | Homo sapiens (Human) | PR |
| Q9P2E7 | PCDH10 | Protocadherin-10 | Homo sapiens (Human) | PR |
| Q9Y5H8 | PCDHA3 | Protocadherin alpha-3 | Homo sapiens (Human) | PR |
| Q9UN75 | PCDHA12 | Protocadherin alpha-12 | Homo sapiens (Human) | PR |
| Q9Y5I2 | PCDHA10 | Protocadherin alpha-10 | Homo sapiens (Human) | PR |
| Q9UN72 | PCDHA7 | Protocadherin alpha-7 | Homo sapiens (Human) | PR |
| Q9UN74 | PCDHA4 | Protocadherin alpha-4 | Homo sapiens (Human) | PR |
| Q9Y5I1 | PCDHA11 | Protocadherin alpha-11 | Homo sapiens (Human) | PR |
| Q9UN73 | PCDHA6 | Protocadherin alpha-6 | Homo sapiens (Human) | PR |
| Q9Y5H6 | PCDHA8 | Protocadherin alpha-8 | Homo sapiens (Human) | PR |
| Q9Y5I3 | PCDHA1 | Protocadherin alpha-1 | Homo sapiens (Human) | PR |
| Q9Y5H9 | PCDHA2 | Protocadherin alpha-2 | Homo sapiens (Human) | PR |
| Q9Y5H3 | PCDHGA10 | Protocadherin gamma-A10 | Homo sapiens (Human) | PR |
| O60330 | PCDHGA12 | Protocadherin gamma-A12 | Homo sapiens (Human) | PR |
| Q9Y5G4 | PCDHGA9 | Protocadherin gamma-A9 | Homo sapiens (Human) | PR |
| Q9Y5G0 | PCDHGB5 | Protocadherin gamma-B5 | Homo sapiens (Human) | PR |
| Q9Y5E3 | PCDHB6 | Protocadherin beta-6 | Homo sapiens (Human) | PR |
| Q9Y5F1 | PCDHB12 | Protocadherin beta-12 | Homo sapiens (Human) | PR |
| P09803 | Cdh1 | Cadherin-1 | Mus musculus (Mouse) | PR |
| P15116 | Cdh2 | Cadherin-2 | Mus musculus (Mouse) | PR |
| P70407 | Cdh9 | Cadherin-9 | Mus musculus (Mouse) | PR |
| P97326 | Cdh6 | Cadherin-6 | Mus musculus (Mouse) | PR |
| P70408 | Cdh10 | Cadherin-10 | Mus musculus (Mouse) | PR |
| Q8VHF2 | Cdhr5 | Cadherin-related family member 5 | Mus musculus (Mouse) | PR |
| P55280 | Cdh6 | Cadherin-6 | Rattus norvegicus (Rat) | PR |
| Q9Z1Y3 | Cdh2 | Cadherin-2 | Rattus norvegicus (Rat) | PR |
| Q767I8 | Pcdha4 | Protocadherin alpha-4 | Rattus norvegicus (Rat) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVYSRRGSLG | SRLLLLWLLL | AYWKAGSGQL | HYSIPEEAKH | GTFVGRIAQD | LGLELAELVP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| RLFRVASKGR | GDLLEVNLQN | GILFVNSRID | REELCRRRAE | CSIHLEVIVD | RPLQVFHVEV |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AVKDINDNPP | RFSRQEQRLF | ILESRMPDSR | FPLEGASDLD | IGANAQLRYR | LNPNEYFDLD |
| 190 | 200 | 210 | 220 | 230 | 240 |
| VKTNEEETNF | LELVLRKSLD | REETQEHRLL | VIATDGGKPE | LTGTVQLLIN | VLDANDNAPE |
| 250 | 260 | 270 | 280 | 290 | 300 |
| FDKSIYNVRL | LENAPSGTLV | IKLNASDADE | GINKEIVYFF | SNLVLDDVKS | KFIINSNTGE |
| 310 | 320 | 330 | 340 | 350 | 360 |
| IKVNGELDYE | DYNSYEINID | AMDKSTFPLS | GHCKVVVKLL | DVNDNTPEMA | ITTLFLPVKE |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DAPLSTVIAL | ISVSDRDSGA | NGQVTCSLMP | HVPFKLVSTF | KNYYSLVLDS | ALDRESVSVY |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ELVVTARDGG | SPSLWATASV | SVEVADVNDN | APAFAQPQYT | VFVKENNPPG | CHIFTVSARD |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ADAQENALVS | YSLVERRVGE | RPLSSYVSVH | AESGKVYALQ | PLDHEEVELL | QFQVSARDAG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| VPPLGSNVTL | QVFVLDENDN | APALLVPRVG | GTGGAVSELV | PRSVGAGHVV | AKVRAVDPDS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GYNAWLSYEL | QPAPGSARIP | FRVGLYTGEI | STTRSLDETE | APRHRLLVLV | KDHGEPPLTA |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TATVLVSLVE | SGQAPKASSR | ASAGAVGPEA | ALVDVNVYLI | IAICAVSSLL | VLTLLLYTAL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| RCSAQPTEAV | CTRGKPTLLC | SSAVGSWSYS | QQRRQRVCSG | EAPPKTDLMA | FSPSLPQGPT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| STDNPRQPNP | DWRYSASLRA | GMHSSVHLEE | AGILRAGPGG | PDQQWPTVSS | ATPEPEAGEV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SPPVGAGVNS | NSWTFKYGPG | NPKQSGPGEL | PDKFIIPGSP | AIISIRQEPT | NSQIDKSDFI |
| 910 | 920 | 930 | |||
| TFGKKEETKK | KKKKKKGNKT | QEKKEKGNST | TDNSDQ |