Q9Y5I3
PR
Gene name |
PCDHA1 |
Protein name |
Protocadherin alpha-1 |
Names |
PCDH-alpha-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:56147 |
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 Q9Y5I3
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q9Y5I3-F1 | Predicted | AlphaFoldDB |
958 variants for Q9Y5I3
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000508600 CA3454461 rs150254638 |
807 | R>H | Hirschsprung disease, susceptibility to, 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs782815458 CA128358239 |
2 | V>E | No |
ClinGen TOPMed |
|
|
rs781785212 CA3444926 |
2 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3444928 rs782715199 |
3 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs958117573 CA361206846 |
4 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs958117573 COSM1696246 CA128358254 COSM1696247 |
4 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs781856716 CA128358261 |
5 | R>G | No |
ClinGen TOPMed |
|
|
rs781849897 CA3444930 |
6 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444929 rs781849897 |
6 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444931 rs782656813 |
7 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 7 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361206877 rs1554117336 |
7 | G>W | No |
ClinGen gnomAD |
|
|
rs782547817 CA3444933 |
8 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 9 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361206937 rs1581593243 |
11 | A>D | No |
ClinGen Ensembl |
|
|
rs1374033579 CA361206958 |
12 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA361206953 rs1374033579 |
12 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA361206970 rs1554117343 |
13 | D>G | No |
ClinGen gnomAD |
|
|
CA128358285 rs782127934 |
13 | D>N | No |
ClinGen gnomAD |
|
|
rs1554117343 CA361206972 |
13 | D>V | No |
ClinGen gnomAD |
|
|
CA3444935 rs782760903 |
14 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782760903 CA361206982 |
14 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM140527 COSM140526 rs1167763941 CA361207000 |
16 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs552900598 CA3444937 |
17 | W>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 18 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3444938 rs782263980 |
18 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA361207109 rs1581593346 |
20 | L>P | No |
ClinGen Ensembl |
|
| TCGA novel | 22 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361207149 rs1186783375 |
23 | A>S | No |
ClinGen TOPMed |
|
|
rs1581593366 CA361207158 |
24 | W>G | No |
ClinGen Ensembl |
|
|
CA361207183 rs1554117353 |
25 | E>K | No |
ClinGen gnomAD |
|
|
CA361207184 rs1554117353 |
25 | E>Q | No |
ClinGen gnomAD |
|
|
CA361207199 rs1554117355 |
25 | E>V | No |
ClinGen gnomAD |
|
|
CA361207235 rs1581593395 |
26 | V>G | No |
ClinGen Ensembl |
|
|
rs1554117357 CA361207221 |
26 | V>M | No |
ClinGen gnomAD |
|
|
rs782030040 CA3444940 |
27 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444941 rs201628014 |
28 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3444942 rs782701926 |
29 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs781949251 CA3444943 |
31 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA361207428 rs1554117366 |
32 | H>R | No |
ClinGen gnomAD |
|
|
CA361207469 rs1482712676 |
33 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs782781600 CA3444945 |
33 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782781600 CA361207462 |
33 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128358344 rs782450366 |
34 | S>* | No |
ClinGen gnomAD |
|
|
CA361207484 rs782450366 |
34 | S>L | No |
ClinGen gnomAD |
|
|
CA361207509 rs1554117369 |
35 | I>N | No |
ClinGen gnomAD |
|
|
rs149344352 CA3444947 |
36 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3444948 rs149344352 |
36 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3444951 rs782469205 |
37 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA3444950 rs542070490 |
37 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3444952 rs782596133 |
39 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs781852611 CA3444953 |
40 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1554117374 CA361207759 |
41 | H>L | No |
ClinGen gnomAD |
|
|
CA3444954 rs782509590 |
41 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361207787 rs201197802 |
42 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444956 rs201197802 |
42 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3444955 rs201197802 |
42 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361207820 rs1290638824 |
43 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA361207816 rs1290638824 |
43 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3444958 rs151077160 |
45 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361207871 rs1410800076 |
45 | V>F | No |
ClinGen TOPMed |
|
|
rs1410800076 CA361207870 |
45 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 46 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361207949 rs1554117383 |
47 | R>H | No |
ClinGen gnomAD |
|
|
rs1562127539 CA361207989 |
48 | V>A | No |
ClinGen Ensembl |
|
|
rs782203644 CA3444959 COSM293774 COSM293773 |
48 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs142648775 CA3444961 |
49 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs142648775 CA3444960 |
49 | A>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3444963 rs782411604 |
50 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782042588 CA3444964 |
51 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs782054620 CA3444965 |
53 | G>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 55 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs916682478 CA128358451 |
55 | E>Q | No |
ClinGen gnomAD |
|
|
CA3444966 rs530707977 |
56 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361208276 rs948063470 |
57 | A>E | No |
ClinGen Ensembl |
|
|
rs948063470 CA128358464 |
57 | A>V | No |
ClinGen Ensembl |
|
|
rs781829588 CA3444967 |
58 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3444968 rs782097281 |
60 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA361208388 rs1413673667 |
62 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1554117407 CA361208487 |
65 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3444974 rs782468432 |
66 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782468432 CA361208505 |
66 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782611073 CA3444975 |
67 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1554117408 CA361208543 |
67 | A>T | No |
ClinGen gnomAD |
|
|
rs144916543 CA128358511 |
68 | S>A | No |
ClinGen ESP TOPMed |
|
|
CA361208625 rs1554117410 |
69 | K>R | No |
ClinGen gnomAD |
|
|
CA3444977 rs782390695 |
70 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA361208674 rs782390695 |
70 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA361208711 rs1581593836 |
71 | H>R | No |
ClinGen Ensembl |
|
|
rs782682818 COSM3409784 CA3444978 COSM3409785 |
72 | R>G | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1192859717 CA361208750 |
72 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1273918716 CA361208784 |
73 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs782298433 CA3444979 |
73 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3444980 rs368372845 |
74 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 77 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782088333 CA3444982 |
78 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA3444986 rs372309343 |
81 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3444987 rs781918697 |
82 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3444988 rs782062100 |
83 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs868987580 CA361209201 |
85 | F>I | No |
ClinGen Ensembl |
|
|
CA128358543 rs1052352963 |
85 | F>L | No |
ClinGen gnomAD |
|
|
rs782721850 CA3444989 |
86 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3444990 rs781835039 |
87 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs782500328 CA3444991 |
89 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 89 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782500328 CA361209346 |
89 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA3444993 rs376884080 COSM205030 COSM205029 |
91 | D>E | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1554117432 CA361209447 |
93 | E>* | No |
ClinGen gnomAD |
|
|
CA361209520 rs782634367 |
94 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1305234114 CA361209487 |
94 | E>K | No |
ClinGen TOPMed |
|
|
rs893615213 CA128358582 |
95 | L>P | No |
ClinGen Ensembl |
|
|
rs1554117437 CA361209552 |
96 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361209578 rs1389057456 |
97 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3444995 rs782571798 |
97 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA361209586 rs1368866587 |
97 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA361209590 COSM3669392 rs1368866587 COSM3669391 |
97 | Q>R | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA361209615 rs1390460669 |
98 | W>* | No |
ClinGen TOPMed |
|
|
rs546642276 CA3444996 |
98 | W>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782622769 CA3444998 CA361209642 |
99 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA3444997 rs568026611 |
99 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782403534 CA3445000 |
100 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs369106313 CA3445001 |
101 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA361209714 rs1562128347 |
102 | C>G | No |
ClinGen Ensembl |
|
|
CA3445003 rs147574427 |
103 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782318680 CA3445004 |
104 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA128358631 rs1029317941 |
104 | I>S | No |
ClinGen gnomAD |
|
|
rs1177911981 CA361209798 |
104 | I>V | No |
ClinGen TOPMed |
|
|
CA3445005 rs781944284 |
105 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs781944284 CA3445006 |
105 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1562128436 CA361209920 |
107 | E>D | No |
ClinGen Ensembl |
|
|
rs782756413 CA3445008 |
107 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs782756413 CA361209889 |
107 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs141936897 CA3445009 |
108 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141936897 CA3445011 |
108 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3445012 rs150122744 |
110 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM589760 rs148838866 CA3445014 COSM589759 |
111 | D>N | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1581594217 CA361210119 |
112 | R>S | No |
ClinGen Ensembl |
|
|
CA361210157 rs1205958769 |
114 | L>Q | No |
ClinGen TOPMed |
|
|
CA3445016 rs782506205 |
115 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs782665594 CA3445017 |
115 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374382875 CA3445018 |
116 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3445020 rs782435531 |
118 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445019 rs782435531 |
118 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534765119 CA3445022 |
120 | E>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782257988 CA361210471 |
123 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3445024 rs782257988 |
123 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA3445025 rs138383476 |
124 | K>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 125 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361210578 rs1554117501 |
127 | N>S | No |
ClinGen gnomAD |
|
|
CA3445027 rs782060008 |
129 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1554117506 CA361210691 |
130 | P>L | No |
ClinGen gnomAD |
|
|
rs782332750 CA3445028 |
130 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA361210719 rs781952785 |
131 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs781952785 CA3445029 |
131 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA361210766 rs1554117512 |
133 | F>L | No |
ClinGen gnomAD |
|
|
CA361210798 rs1554117514 |
134 | R>G | No |
ClinGen gnomAD |
|
|
CA361210808 rs1554117514 |
134 | R>W | No |
ClinGen gnomAD |
|
|
CA3445032 rs373531566 |
135 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361210850 rs1320578112 |
135 | G>R | No |
ClinGen TOPMed |
|
|
rs868980973 CA361210879 |
136 | R>K | No |
ClinGen Ensembl |
|
|
CA3445034 rs782163496 |
138 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445033 rs782163496 |
138 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361210978 rs1304416996 |
139 | I>V | No |
ClinGen TOPMed |
|
|
CA361211030 rs1554117522 |
140 | I>M | No |
ClinGen gnomAD |
|
|
rs1554117523 CA361211036 |
141 | F>L | No |
ClinGen gnomAD |
|
|
rs541784932 CA3445035 |
141 | F>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361211077 rs782463216 |
142 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 142 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3445036 rs782463216 |
142 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451186406 CA361211129 |
143 | P>L | No |
ClinGen TOPMed |
|
|
CA3445037 rs201652084 |
144 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361211153 rs201652084 |
144 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 145 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128358863 rs935336116 |
145 | S>F | No |
ClinGen Ensembl |
|
|
CA361211167 rs1193941296 |
145 | S>P | No |
ClinGen TOPMed |
|
|
rs781847150 CA3445038 |
146 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA128358871 rs1052321676 |
146 | R>K | No |
ClinGen Ensembl |
|
|
CA361211360 COSM1219529 rs1446677911 COSM1219530 |
151 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA361211367 rs1446677911 |
151 | R>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 153 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3445041 rs201063142 |
153 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3445042 rs199938924 |
154 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs946552261 CA128358888 |
155 | E>K | No |
ClinGen Ensembl |
|
|
CA361211450 rs946552261 |
155 | E>Q | No |
ClinGen Ensembl |
|
|
rs1039982793 CA128358890 |
156 | G>A | No |
ClinGen gnomAD |
|
|
rs116278913 CA3445044 |
158 | A>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs115744731 CA3445043 |
158 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782356183 CA3445045 |
159 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782356183 CA361211552 |
159 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445046 rs781988488 |
161 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs782131783 CA3445047 |
165 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA3445048 rs373829612 |
165 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361211786 rs781919950 |
166 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445049 rs781919950 |
166 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361211791 rs781919950 |
166 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374636637 CA361211806 |
167 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs782067110 CA3445050 |
168 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1554117547 CA361212003 |
171 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1168615136 CA361212060 |
173 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs141972872 CA3445056 |
174 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3445055 rs374627014 |
174 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782548155 CA3445057 |
175 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1189885259 CA361212140 |
175 | S>R | No |
ClinGen TOPMed |
|
|
CA361212166 rs1554117556 |
176 | D>G | No |
ClinGen gnomAD |
|
|
CA3445058 rs782575431 |
178 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA3445059 rs139307990 |
179 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1475625498 CA361212305 |
179 | S>P | No |
ClinGen TOPMed |
|
|
CA128358951 rs782118399 |
180 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs368731125 CA3445060 |
180 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 181 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs995011052 CA128358968 |
182 | V>A | No |
ClinGen Ensembl |
|
|
CA361212451 rs1554117570 |
184 | A>G | No |
ClinGen Ensembl |
|
|
CA3445062 rs782242399 |
184 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs782242399 CA3445063 |
184 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs782661102 CA3445064 |
186 | D>N | No |
ClinGen ExAC gnomAD |
|
|
COSM3428959 COSM3428960 CA3445065 rs782173467 |
187 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs372065617 CA3445067 |
189 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 189 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3445069 rs782368008 |
190 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445068 rs782230479 |
190 | K>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 191 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1336881615 CA361212681 |
191 | S>Y | No |
ClinGen TOPMed |
|
|
CA361212696 rs1554117580 |
192 | L>F | No |
ClinGen gnomAD |
|
|
CA3445070 rs781994179 |
193 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361212786 rs1233544308 |
194 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA361212877 rs1562129653 |
196 | L>S | No |
ClinGen Ensembl |
|
|
CA361212909 rs1291252536 |
197 | R>T | No |
ClinGen TOPMed |
|
|
rs1411401994 CA361212951 |
198 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
CA361212980 rs1554117588 |
199 | Y>H | No |
ClinGen gnomAD |
|
|
CA3445072 rs782820275 |
200 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782072601 CA3445074 |
201 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs781925221 CA3445073 |
201 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369808605 CA3445075 |
203 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 204 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781839336 CA3445076 |
204 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445077 rs782506725 |
205 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1165027646 CA361213206 |
206 | P>R | No |
ClinGen TOPMed |
|
|
rs782781092 CA3445078 |
206 | P>S | No |
ClinGen ExAC |
|
|
CA361213216 rs1462197146 |
207 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3445079 rs781891294 |
209 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA361213392 rs1417383737 |
213 | T>S | No |
ClinGen TOPMed |
|
|
rs1562129853 CA361213409 |
214 | A>T | No |
ClinGen Ensembl |
|
|
rs969545572 CA128359070 |
214 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1554117604 CA361213424 |
215 | T>P | No |
ClinGen gnomAD |
|
|
CA361213529 rs1554117610 |
218 | G>D | No |
ClinGen gnomAD |
|
|
CA3445082 COSM1061777 COSM1061776 rs149577981 |
220 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3445081 rs149577981 |
220 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1436524883 CA361213595 |
221 | E>K | No |
ClinGen TOPMed |
|
|
rs782486948 CA3445083 |
222 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs191020588 CA3445084 |
224 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs191020588 CA361213725 |
224 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs17844237 CA361213829 |
228 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 229 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361213895 rs1554117621 |
230 | I>T | No |
ClinGen gnomAD |
|
|
rs868975163 CA361213906 |
231 | T>I | No |
ClinGen TOPMed |
|
|
rs782181768 CA3445088 |
232 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM1061778 CA361213959 COSM1061779 rs1554117629 |
234 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA361214015 rs1278677422 |
236 | N>D | No |
ClinGen TOPMed |
|
|
rs1439962288 CA361214025 |
236 | N>S | No |
ClinGen TOPMed |
|
|
rs946659503 CA128359139 |
237 | D>G | No |
ClinGen gnomAD |
|
|
rs781961093 CA3445091 |
237 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs782762735 CA3445094 |
241 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1328058287 CA361214201 |
243 | D>H | No |
ClinGen TOPMed |
|
|
rs782152915 CA3445096 |
245 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782152915 CA361214280 |
245 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782815702 CA3445097 |
246 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1039631459 CA128359214 |
247 | Y>* | No |
ClinGen gnomAD |
|
|
rs1163055248 CA361214361 |
248 | R>G | No |
ClinGen TOPMed |
|
|
rs1554117640 CA361214382 |
248 | R>S | No |
ClinGen gnomAD |
|
|
rs781804267 CA3445098 |
249 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs782479396 CA3445099 |
250 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361214521 rs1158308475 |
253 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA361214525 rs1158308475 |
253 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA361214564 rs1469089176 |
254 | T>A | No |
ClinGen TOPMed |
|
|
CA361214583 rs1554117650 |
255 | T>I | No |
ClinGen gnomAD |
|
|
rs782737407 CA3445101 |
257 | N>H | No |
ClinGen ExAC |
|
|
rs1554117657 CA361214716 |
259 | T>I | No |
ClinGen gnomAD |
|
|
CA3445105 rs782511856 |
261 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA361214760 rs1554117661 |
261 | V>M | No |
ClinGen gnomAD |
|
| TCGA novel | 263 | T>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554117663 CA361214823 |
263 | T>I | No |
ClinGen gnomAD |
|
|
rs1554117668 CA361214829 |
264 | L>I | No |
ClinGen gnomAD |
|
|
rs1554117668 CA361214831 |
264 | L>V | No |
ClinGen gnomAD |
|
|
CA361214852 rs1554117670 |
265 | N>H | No |
ClinGen gnomAD |
|
|
rs781903014 CA3445107 |
268 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1554117674 CA361214965 |
269 | A>V | No |
ClinGen gnomAD |
|
|
rs115085380 CA3445109 COSM1061780 COSM1061781 |
271 | E>K | large_intestine endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs115085380 COSM3696940 COSM3696941 CA3445108 |
271 | E>Q | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs782213463 CA3445111 |
272 | G>C | No |
ClinGen ExAC TOPMed |
|
|
rs782213463 CA3445110 |
272 | G>S | No |
ClinGen ExAC TOPMed |
|
|
rs1554117689 CA361215077 |
274 | N>D | No |
ClinGen gnomAD |
|
|
rs1304053207 CA361215103 |
275 | G>S | No |
ClinGen TOPMed |
|
|
COSM736390 CA361217551 COSM736391 rs782409216 |
278 | V>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 278 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3445114 rs782409216 |
278 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361217578 rs1554117698 |
279 | F>L | No |
ClinGen gnomAD |
|
|
CA361217569 rs1554117697 |
279 | F>V | No |
ClinGen gnomAD |
|
|
rs868981983 CA361217589 COSM221709 COSM221710 |
280 | S>F | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs782040077 CA3445116 |
283 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA361217665 rs1323911248 |
283 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs782064237 CA3445117 |
283 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA3445118 rs782343360 |
284 | G>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs144952734 CA3445119 |
287 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1433666 COSM1433667 CA128361285 rs886883971 |
287 | R>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs868943937 CA361217794 |
289 | I>S | No |
ClinGen Ensembl |
|
|
rs1554117717 CA361217857 |
291 | E>G | No |
ClinGen gnomAD |
|
|
CA3445120 rs782111378 |
292 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA361217884 rs1318130185 |
292 | K>N | No |
ClinGen TOPMed |
|
|
CA3445121 rs561695201 |
293 | F>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM374514 COSM374515 rs561695201 CA128361291 |
293 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA361217980 rs1399307385 |
295 | V>F | No |
ClinGen TOPMed |
|
|
CA361218013 rs1397504983 |
296 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA3445122 rs781879463 |
297 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554117727 CA361218132 |
300 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3445124 rs782695759 |
301 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA3445126 rs782476358 |
305 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1454176953 CA361218299 |
305 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1554117732 CA361218349 |
306 | D>E | No |
ClinGen gnomAD |
|
|
rs1392750282 CA361218328 |
306 | D>H | No |
ClinGen TOPMed |
|
|
rs1562130998 CA361218377 |
308 | L>V | No |
ClinGen Ensembl |
|
|
CA3445128 rs782703821 |
309 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782703821 CA3445127 |
309 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241138338 CA361218522 |
314 | K>I | No |
ClinGen TOPMed |
|
| TCGA novel | 314 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782514129 CA3445129 |
315 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA361218567 CA128361305 rs777052158 |
316 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1443927992 CA361218562 |
316 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA3445130 rs200214340 |
316 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3445131 rs782303583 |
317 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA128361311 COSM109601 COSM1061788 rs143010606 |
317 | E>K | Variant assessed as Somatic; impact. endometrium skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA3445133 rs782596487 |
320 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA361218691 rs375292703 |
321 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782372160 CA3445135 |
322 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554117746 CA361218725 |
323 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361218721 rs1554117746 |
323 | V>D | No |
ClinGen gnomAD |
|
|
CA3445136 rs781991203 |
326 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1362990159 CA361218834 |
328 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA361218821 rs1554117750 |
328 | P>T | No |
ClinGen gnomAD |
|
|
rs548641282 CA3445137 |
329 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361218872 COSM317803 COSM317802 rs1581595763 |
330 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3445138 rs147952248 |
330 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3445140 rs782073050 |
332 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3445139 rs781916702 |
332 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1554117753 CA361218931 |
333 | H>Q | No |
ClinGen gnomAD |
|
|
CA361218946 rs1554117755 |
334 | C>Y | No |
ClinGen gnomAD |
|
|
CA3445141 rs782734782 |
336 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361219030 rs1554117761 |
339 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 340 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs140151054 CA3445142 |
340 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140151054 CA361219044 |
340 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361219076 rs782118685 |
342 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445143 rs782118685 |
342 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445145 rs781892033 |
343 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445146 rs782569766 |
344 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 345 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 345 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361219287 rs1554117773 |
351 | A>V | No |
ClinGen gnomAD |
|
|
CA3445149 rs782483991 |
352 | V>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 352 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA128361387 rs531063407 |
353 | T>N | No |
ClinGen 1000Genomes |
|
|
rs111252219 CA128361399 |
354 | S>* | No |
ClinGen Ensembl |
|
|
rs782257489 CA3445151 |
355 | L>F | No |
ClinGen ExAC |
|
|
rs1184414749 CA361219400 |
356 | Y>C | No |
ClinGen TOPMed |
|
|
rs34575154 CA3445153 VAR_048521 |
360 | R>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1562131615 CA361219501 |
360 | R>T | No |
ClinGen Ensembl |
|
|
CA3445154 rs547334573 CA361219560 |
362 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367890574 CA3445155 |
363 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361219627 rs1554117793 |
365 | L>R | No |
ClinGen gnomAD |
|
|
rs112959136 CA128361403 |
366 | S>G | No |
ClinGen gnomAD |
|
|
rs782460804 CA3445157 |
368 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3445158 rs782233244 |
369 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782375835 CA3445159 |
370 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782375835 CA361219692 |
370 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3445160 rs782000737 |
370 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782151614 CA3445161 |
372 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361219748 rs1554117807 CA361219750 |
374 | V>L | No |
ClinGen gnomAD |
|
|
rs1554117811 CA361219798 |
377 | R>C | No |
ClinGen gnomAD |
|
|
rs1035083797 CA128361419 |
379 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs201795507 CA3445164 |
380 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128361432 rs150323214 |
382 | N>D | No |
ClinGen ESP |
|
|
CA361219872 rs1554117816 |
382 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 383 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1061789 CA3445166 COSM1061790 rs546664193 CA3445165 |
383 | G>R | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA3445168 rs201577447 |
384 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3445167 rs201577447 |
384 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361219900 rs1554117821 |
384 | Q>P | No |
ClinGen gnomAD |
|
|
CA3445169 rs781902754 |
386 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA361219949 rs1554117823 |
387 | C>R | No |
ClinGen Ensembl |
|
|
CA3445170 rs377533105 |
387 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445172 rs782206704 |
388 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1554117827 CA361220010 |
390 | M>I | No |
ClinGen gnomAD |
|
|
rs1462723431 CA361220023 |
391 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1554117833 CA361220049 |
393 | V>F | No |
ClinGen gnomAD |
|
|
CA361220062 rs1554117836 |
394 | P>A | No |
ClinGen gnomAD |
|
|
CA361220067 rs1554117838 |
394 | P>H | No |
ClinGen gnomAD |
|
|
rs1554117838 CA361220072 |
394 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1554117842 CA361220087 |
395 | F>C | No |
ClinGen gnomAD |
|
|
rs1554117845 CA361220147 |
399 | S>P | No |
ClinGen gnomAD |
|
|
CA361220152 rs1554117846 |
399 | S>Y | No |
ClinGen gnomAD |
|
|
CA361220163 rs1554117850 |
400 | T>A | No |
ClinGen gnomAD |
|
|
CA361220190 rs1554117851 |
401 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 402 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782180734 CA3445178 |
402 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs921209737 CA128361463 |
404 | Y>H | No |
ClinGen TOPMed |
|
|
rs781962432 CA3445180 |
406 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs781962432 CA361220335 |
406 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA3445182 rs782770944 |
407 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA361220351 rs1581596342 |
407 | L>S | No |
ClinGen Ensembl |
|
|
CA361220344 rs782107641 |
407 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 408 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375282135 CA3445184 |
409 | L>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782697254 CA3445185 |
411 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1202490166 CA361220449 |
411 | S>T | No |
ClinGen TOPMed |
|
|
rs1554117857 CA361220466 |
412 | A>T | No |
ClinGen gnomAD |
|
|
CA3445187 rs568406742 COSM3409788 COSM3409789 |
415 | R>H | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs781856943 COSM1594812 COSM1594811 CA3445189 |
416 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA361220571 rs781856943 |
416 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1554117861 CA361220635 |
418 | L>V | No |
ClinGen gnomAD |
|
|
rs782669487 CA3445191 |
419 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361220656 rs1274029719 |
419 | S>T | No |
ClinGen TOPMed |
|
|
rs782669487 CA361220662 |
419 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128361494 rs939733761 |
420 | V>A | No |
ClinGen Ensembl |
|
|
rs535854388 CA128361497 |
421 | Y>C | No |
ClinGen 1000Genomes |
|
|
rs782444613 CA3445194 |
422 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128361513 rs1038128465 |
422 | E>K | No |
ClinGen Ensembl |
|
|
CA128361522 rs373032465 |
424 | V>M | No |
ClinGen ESP TOPMed |
|
|
rs782215051 CA3445196 |
426 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA361220745 rs782215051 |
426 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs781798156 CA128361534 |
427 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA361220773 rs1554117874 COSM1219528 COSM1219527 |
428 | R>W | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs557029404 CA3445201 CA3445200 |
430 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3445203 rs375328867 |
431 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361220911 rs1554117881 |
432 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 433 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781964338 CA3445205 |
433 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361220919 rs781964338 |
433 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445206 rs61743801 |
434 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762403166 CA3445210 |
436 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781812116 CA3445211 |
438 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs782473888 CA3445212 |
438 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs782538521 CA3445215 |
439 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs267600382 CA128361579 |
439 | A>T | No |
ClinGen Ensembl |
|
|
rs573053868 CA3445217 |
440 | R>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1554117892 CA361221117 |
441 | V>A | No |
ClinGen gnomAD |
|
|
CA3445218 rs138770922 |
441 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782327256 CA3445219 |
442 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1003710499 CA128361590 |
443 | V>E | No |
ClinGen TOPMed |
|
|
CA3445221 rs369392034 |
447 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554117901 CA361221218 |
447 | D>Y | No |
ClinGen gnomAD |
|
|
rs1240177716 CA361221240 |
448 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA3445222 VAR_021872 rs3733712 |
449 | N>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1371109307 CA361221327 |
452 | A>E | No |
ClinGen TOPMed |
|
|
rs782434207 CA3445225 |
453 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA361221353 rs1386641737 |
454 | A>T | No |
ClinGen TOPMed |
|
|
CA3445227 rs782075434 |
454 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1022391836 CA128361604 |
455 | F>L | No |
ClinGen Ensembl |
|
|
rs781972006 CA3445229 |
456 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445230 rs781972006 |
456 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 456 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1175447800 CA361221415 |
457 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA3445232 rs781895641 |
457 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3445236 rs782726332 |
459 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 459 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782726332 CA3445237 COSM1061794 |
459 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA361221466 rs1431705713 |
461 | T>A | No |
ClinGen TOPMed |
|
|
CA3445238 rs782485929 |
463 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs372693703 CA128361660 |
464 | V>L | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 466 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361221497 rs1485747567 |
466 | E>K | No |
ClinGen TOPMed |
|
|
rs1284250332 CA361221525 |
467 | N>I | No |
ClinGen TOPMed |
|
|
CA361221531 rs1554117933 |
467 | N>K | No |
ClinGen gnomAD |
|
|
CA361221537 rs1554117934 |
468 | N>D | No |
ClinGen gnomAD |
|
|
rs1581596937 CA361221544 |
468 | N>T | No |
ClinGen Ensembl |
|
|
rs141915652 CA3445241 |
469 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782267072 CA3445240 |
469 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1028195735 CA361221582 |
470 | P>L | No |
ClinGen TOPMed |
|
|
rs1028195735 CA128361664 |
470 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1028195735 CA361221580 |
470 | P>R | No |
ClinGen TOPMed |
|
|
CA3445242 rs782675880 |
470 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445244 rs782330191 |
471 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3445246 rs782237182 |
472 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs150635079 CA3445247 |
474 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782013970 CA361221680 |
475 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782160174 CA3445249 |
476 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1554117956 CA361221714 |
477 | V>A | No |
ClinGen gnomAD |
|
|
CA361221709 rs1554117951 |
477 | V>M | No |
ClinGen gnomAD |
|
|
rs1562133903 CA361221734 |
479 | A>E | No |
ClinGen Ensembl |
|
|
rs1554117959 CA361221733 |
479 | A>P | No |
ClinGen gnomAD |
|
|
CA3445256 COSM3946909 rs782799209 COSM3946908 |
480 | R>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs782524792 CA3445255 |
480 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA361221744 rs1554117967 |
481 | D>V | No |
ClinGen gnomAD |
|
|
CA361221750 rs1194182243 |
482 | A>S | No |
ClinGen TOPMed |
|
|
COSM3239290 rs782599305 CA3445259 COSM3239291 |
482 | A>V | Variant assessed as Somatic; 0.0001386 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 483 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371009349 CA3445260 |
484 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361221762 rs371009349 |
484 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782274499 CA3445263 |
485 | Q>R | No |
ClinGen ExAC |
|
| TCGA novel | 486 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 486 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554117975 CA361221773 |
486 | E>K | No |
ClinGen gnomAD |
|
|
CA128361724 rs939885436 |
487 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 488 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1581597181 CA361221810 |
491 | S>F | No |
ClinGen Ensembl |
|
|
rs782336467 CA3445267 |
492 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445266 rs782191728 |
492 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs782336467 CA361221814 |
492 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251328061 CA361221822 |
493 | S>L | No |
ClinGen TOPMed |
|
|
rs782023568 CA3445271 |
497 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs948369994 CA128361753 |
498 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs781815386 CA3445274 |
499 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs782699425 CA3445273 |
499 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1310996121 CA361221854 |
500 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1554117984 CA361221863 |
501 | E>G | No |
ClinGen gnomAD |
|
|
CA3445276 rs782741902 |
501 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA361221868 rs1168526891 |
502 | R>C | No |
ClinGen TOPMed |
|
|
CA361221873 rs1562134332 |
503 | A>T | No |
ClinGen Ensembl |
|
|
rs1461708210 CA361221878 |
503 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 505 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3445279 rs782679329 |
506 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs782523772 CA3445278 |
506 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs370695877 CA3445282 |
508 | V>A | No |
ClinGen ESP ExAC TOPMed |
|
|
rs370695877 CA361221907 |
508 | V>E | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1167626504 CA361221906 |
508 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM258665 CA361221904 rs1167626504 COSM258666 |
508 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA361221912 rs1554117994 |
509 | S>* | No |
ClinGen gnomAD |
|
|
CA3445284 rs782224438 |
509 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs147501282 CA3445286 |
510 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554117999 CA361221935 |
513 | E>K | No |
ClinGen gnomAD |
|
|
CA3445288 rs3733711 |
514 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782070074 CA3445290 |
515 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3445292 rs373804553 |
517 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA361222004 rs1554118009 |
518 | Y>C | No |
ClinGen gnomAD |
|
|
CA361221997 rs1554118006 |
518 | Y>D | No |
ClinGen gnomAD |
|
|
CA361221995 rs1554118006 |
518 | Y>H | No |
ClinGen gnomAD |
|
|
rs140204027 CA3445294 |
519 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3445295 rs781896106 |
519 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA361222037 rs1233443870 |
520 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1554118017 CA361222049 |
521 | Q>R | No |
ClinGen gnomAD |
|
|
CA361222063 rs1581597492 |
522 | P>S | No |
ClinGen Ensembl |
|
|
CA361222090 rs782485388 |
523 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA3445299 rs782485388 |
523 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1241136189 CA361222134 |
525 | H>Q | No |
ClinGen TOPMed |
|
|
CA361222140 rs1336246747 |
526 | E>* | No |
ClinGen TOPMed |
|
|
rs782636716 CA3445300 |
526 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782526197 CA3445302 |
528 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 529 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361222242 rs1554118028 |
530 | L>P | No |
ClinGen gnomAD |
|
|
CA361222239 rs1554118028 |
530 | L>Q | No |
ClinGen gnomAD |
|
|
rs3733710 CA3445304 |
530 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3445306 rs782602740 |
532 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128361854 CA361222317 rs997247708 |
533 | F>L | No |
ClinGen gnomAD |
|
|
CA3445307 rs782239850 |
534 | Q>* | No |
ClinGen ExAC |
|
|
rs1554118037 CA361222339 |
534 | Q>L | No |
ClinGen gnomAD |
|
|
CA3445308 rs782380669 |
538 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA361222418 rs1554118039 |
538 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs782284289 CA3445310 |
539 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA361222433 rs1554118040 |
539 | D>N | No |
ClinGen gnomAD |
|
|
COSM385956 COSM385957 rs568547556 CA3445312 |
543 | P>Q | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA3445313 rs568547556 |
543 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782073700 CA3445314 |
544 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs782073700 CA3445315 |
544 | P>T | No |
ClinGen ExAC gnomAD |
|
|
COSM589745 CA3445317 COSM589746 rs367694549 |
545 | L>V | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA361222539 rs1554118048 |
546 | G>D | No |
ClinGen gnomAD |
|
|
rs1554118048 CA361222543 |
546 | G>V | No |
ClinGen gnomAD |
|
|
rs1554118050 CA361222561 |
547 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1015476965 CA128361869 |
547 | S>R | No |
ClinGen Ensembl |
|
|
rs1554118053 CA361222580 |
548 | N>D | No |
ClinGen gnomAD |
|
|
rs782794202 CA3445318 |
548 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA3445320 rs61743799 |
549 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3445319 rs61743799 |
549 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs569142727 CA3445321 |
550 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361222644 rs1554118055 |
550 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361222642 rs1554118055 |
550 | T>R | No |
ClinGen gnomAD |
|
|
rs1554118061 CA361222652 |
551 | L>P | No |
ClinGen gnomAD |
|
|
CA3445323 rs782494427 |
555 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445324 rs782494427 |
555 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361222741 rs1581597808 |
555 | V>L | No |
ClinGen Ensembl |
|
|
CA361222769 rs1554118067 |
556 | L>P | No |
ClinGen gnomAD |
|
|
CA361222803 rs1278883144 |
557 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1351384663 CA361222791 |
557 | D>G | No |
ClinGen TOPMed |
|
|
rs1554118074 CA361222817 |
558 | E>* | No |
ClinGen gnomAD |
|
|
COSM3239322 CA361222811 COSM3239323 rs1554118074 |
558 | E>K | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1554118079 CA361222868 |
560 | D>Y | No |
ClinGen gnomAD |
|
|
rs1305662985 CA361222916 |
562 | A>E | No |
ClinGen TOPMed |
|
|
rs782273016 CA3445325 COSM345696 COSM345695 |
562 | A>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs782273016 CA361222906 |
562 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128361886 rs61743802 |
563 | P>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA128361890 rs61743802 |
563 | P>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA361222979 rs1554118082 |
565 | L>Q | No |
ClinGen gnomAD |
|
|
rs368549830 CA361223014 |
567 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368549830 CA3445327 |
567 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3445329 rs148397611 |
569 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs948530435 CA128361909 |
570 | V>A | No |
ClinGen Ensembl |
|
|
rs1158508561 CA361223086 |
570 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1158508561 CA361223083 |
570 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs372003164 CA3445331 |
571 | G>V | No |
ClinGen ESP ExAC TOPMed |
|
|
rs1562135496 CA563500428 |
572 | G>K | No |
ClinGen Ensembl |
|
|
CA3445332 rs782387840 |
573 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445333 rs782016270 |
573 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs782387840 CA361223147 |
573 | T>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1193679035 CA361223174 |
574 | I>T | No |
ClinGen TOPMed |
|
|
CA3445334 rs782163946 |
574 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs781940481 CA361223199 |
576 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781940481 CA3445336 |
576 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554118088 CA361223243 |
578 | S>G | No |
ClinGen gnomAD |
|
|
CA128361954 rs200716185 |
582 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA3445338 rs782763112 |
582 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA361223314 rs1554118093 |
583 | R>* | No |
ClinGen gnomAD |
|
|
CA361223337 rs781859097 |
584 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3445339 rs1554118094 |
584 | L>W | No |
ClinGen Ensembl |
|
|
CA361223356 rs1554118097 |
585 | V>G | No |
ClinGen gnomAD |
|
|
CA361223346 rs782529116 CA3445342 COSM369523 COSM369524 |
585 | V>L | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD NCI-TCGA |
|
rs201888246 CA128361958 |
587 | A>G | No |
ClinGen Ensembl |
|
|
CA3445345 rs573116174 |
588 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs782221084 CA3445347 |
591 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA128361972 rs190769137 |
592 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361223476 rs1554118099 |
592 | A>S | No |
ClinGen gnomAD |
|
|
CA3445348 rs190769137 |
592 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1554118101 COSM126863 CA361223493 |
593 | K>* | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA3445351 rs782280594 |
593 | K>R | No |
ClinGen ExAC |
|
| TCGA novel | 594 | V>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200778871 CA128361989 |
594 | V>G | No |
ClinGen TOPMed |
|
|
rs782419097 CA3445352 |
594 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs782199797 CA361223544 |
595 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782199797 CA3445354 |
595 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782570913 CA3445353 |
595 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 597 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781970934 CA3445356 |
597 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA3445359 COSM1061803 COSM1061804 rs782390753 |
600 | D>N | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA128361997 rs782217299 |
601 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
CA128362000 rs782306888 |
604 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3445363 rs781816773 |
605 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782707650 CA3445362 |
605 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs782707650 CA361223737 |
605 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA361223750 rs781816773 |
605 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445364 rs782096552 |
606 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA361223815 rs1187918668 |
609 | Y>N | No |
ClinGen TOPMed |
|
|
CA3445368 rs782673699 |
610 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA361223876 rs1475511194 |
612 | Q>* | No |
ClinGen TOPMed |
|
|
CA3445369 rs781789933 |
612 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781789933 CA3445370 |
612 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361223888 rs1191203200 |
613 | P>A | No |
ClinGen TOPMed |
|
|
CA361223889 rs782235113 |
613 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3445372 rs782235113 |
613 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361223892 rs1258128364 |
614 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA361223893 rs1258128364 |
614 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs782371275 CA3445373 |
615 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA361223904 rs1276527316 |
616 | G>S | No |
ClinGen TOPMed |
|
|
rs1554118141 CA361223911 |
617 | G>D | No |
ClinGen gnomAD |
|
|
CA3445375 rs200505783 |
618 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3445379 rs140874802 |
619 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140874802 CA3445378 |
619 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554118154 CA361223922 |
619 | R>L | No |
ClinGen gnomAD |
|
|
COSM141122 CA3445380 rs577909393 COSM141123 |
621 | P>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3445383 rs781903549 COSM448713 COSM448714 |
623 | R>C | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3445384 rs782044308 |
625 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782044308 CA361223955 |
625 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128362104 rs891095309 |
627 | Y>C | No |
ClinGen gnomAD |
|
|
rs781827223 CA361223974 |
628 | T>K | No |
ClinGen ExAC gnomAD |
|
|
rs781827223 CA3445387 |
628 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361223982 rs1554118172 |
630 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3445389 rs371682536 |
632 | S>N | No |
ClinGen ExAC gnomAD |
|
|
COSM448715 CA361224009 COSM448716 rs1581598754 |
633 | T>M | lung breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA3445392 rs144781571 |
635 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1541754 CA361224018 rs1206688440 COSM1541755 |
635 | R>H | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA361224016 rs144781571 |
635 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782457265 CA3445394 |
636 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs782183787 CA3445393 |
636 | V>I | No |
ClinGen ExAC gnomAD |
|
|
COSM736371 COSM736370 CA361224038 rs1216959353 |
639 | E>K | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs782386855 CA3445397 |
640 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs782386855 CA361224049 |
640 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs782288159 CA361224056 |
641 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140414707 CA3445398 |
641 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361224064 rs1228287347 |
642 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs961356183 CA128362133 |
643 | S>L | No |
ClinGen Ensembl |
|
|
rs577194073 CA128362141 |
644 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs17844239 CA3445401 |
645 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445402 rs150375083 |
647 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782137580 CA3445405 |
651 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781987958 CA3445404 |
651 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs781909050 CA361224150 |
655 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA361224140 rs1554118194 |
655 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs781909050 CA3445407 |
655 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1554118199 CA361224167 |
656 | E>G | No |
ClinGen gnomAD |
|
|
CA361224156 rs1554118197 |
656 | E>K | No |
ClinGen gnomAD |
|
|
rs1163768451 CA361224185 |
657 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA361224181 rs1554118200 |
657 | P>T | No |
ClinGen gnomAD |
|
|
rs564427730 CA3445411 |
658 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs564427730 CA3445412 |
658 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361224253 rs1554118203 |
661 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA361224265 rs1554118205 |
661 | A>V | No |
ClinGen gnomAD |
|
|
CA361224288 rs1554118207 |
662 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 663 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 663 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs528715520 CA3445415 |
664 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA361224320 rs1554118212 COSM1541751 COSM1541750 |
664 | T>I | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs146303269 CA3445416 |
665 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3445417 rs80189245 |
666 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369402851 CA3445418 |
667 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 671 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3409797 CA361224473 rs1554118218 COSM3409796 |
673 | G>S | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1320228184 CA361224480 |
673 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3445422 COSM1433687 rs782171982 COSM1433686 |
675 | A>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA128362214 rs928398123 |
676 | P>S | No |
ClinGen gnomAD |
|
|
CA3445424 rs781942578 |
677 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554118223 CA361224556 |
679 | S>P | No |
ClinGen gnomAD |
|
|
rs1306684678 CA361224575 |
680 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs782747774 CA361224588 |
681 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA3445426 rs782747774 |
681 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3445427 rs781866633 |
682 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA3445428 rs147521602 |
685 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200124437 CA128362236 |
686 | V>F | No |
ClinGen Ensembl |
|
|
rs200124437 CA128362237 |
686 | V>L | No |
ClinGen Ensembl |
|
|
rs782810018 CA3445429 |
687 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445430 rs782810018 |
687 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs782513433 CA3445434 |
689 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1346960602 CA361224735 |
691 | A>V | No |
ClinGen TOPMed |
|
|
rs1554118232 CA361224749 |
692 | A>G | No |
ClinGen gnomAD |
|
|
CA3445437 rs782425095 |
692 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA361224774 rs1581599357 |
694 | V>G | No |
ClinGen Ensembl |
|
|
CA361224765 rs1159547413 |
694 | V>M | No |
ClinGen TOPMed |
|
|
rs1438906221 CA361224817 |
697 | N>D | No |
ClinGen TOPMed |
|
|
CA361224814 rs1438906221 |
697 | N>H | No |
ClinGen TOPMed |
|
|
CA3445440 rs782204175 |
697 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177035510 CA361224841 |
698 | V>A | No |
ClinGen TOPMed |
|
|
CA361224843 rs1177035510 |
698 | V>G | No |
ClinGen TOPMed |
|
|
rs1268159345 CA361224861 |
699 | Y>* | No |
ClinGen TOPMed |
|
| TCGA novel | 699 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781980593 CA3445442 |
702 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs782653718 CA128362320 |
706 | A>S | No |
ClinGen gnomAD |
|
|
COSM1061809 rs782653718 COSM1061810 CA361224960 |
706 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA3445443 rs782121889 |
707 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361225000 rs1554118242 |
708 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 708 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361225022 TCGA novel rs1554118244 |
709 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen gnomAD |
|
CA128362328 rs925452936 |
711 | L>P | No |
ClinGen Ensembl |
|
|
rs782049838 CA3445446 |
712 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA128362329 rs112437989 |
718 | Y>C | No |
ClinGen Ensembl |
|
|
CA3445448 rs781822757 |
720 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3445449 rs782100995 |
721 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs782756031 CA3445450 |
722 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs782756031 CA361225182 |
722 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1554118258 CA361225175 |
722 | R>W | No |
ClinGen gnomAD |
|
|
rs139952759 CA128362350 |
723 | C>W | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3445451 rs368838533 COSM4155485 COSM4155484 |
723 | C>Y | kidney [Cosmic] | No |
ClinGen cosmic curated ESP ExAC gnomAD |
|
CA361225232 rs1554118260 |
724 | S>L | No |
ClinGen gnomAD |
|
|
CA361225219 rs1384629719 |
724 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1363961646 CA361225236 |
725 | V>L | No |
ClinGen TOPMed |
|
|
rs1554118261 CA361225276 |
726 | P>A | No |
ClinGen gnomAD |
|
|
CA3445453 rs17844240 |
726 | P>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs17844240 CA3445452 |
726 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361225310 rs1358413256 |
727 | P>L | No |
ClinGen TOPMed |
|
|
CA3445455 rs782460412 |
728 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 728 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 728 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361225346 rs1554118267 |
729 | E>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 731 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs567331809 CA3445457 |
731 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3445459 rs2240696 VAR_021873 |
732 | Y>C | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA361225449 rs2240696 |
732 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1378490893 CA361225439 |
732 | Y>H | No |
ClinGen TOPMed |
|
|
rs782302860 CA3445461 |
734 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361225489 rs782302860 |
734 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361225474 rs1431555287 |
734 | P>T | No |
ClinGen TOPMed |
|
|
CA3445463 rs782082535 |
735 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1488136041 CA361225566 |
737 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs182968439 CA361225590 |
738 | T>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3445465 rs13176401 |
738 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3445464 rs182968439 |
738 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 740 | V>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs782136453 CA3445466 |
740 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1345267097 CA361225689 |
742 | S>C | No |
ClinGen TOPMed |
|
|
rs1554118278 CA361225674 |
742 | S>P | No |
ClinGen gnomAD |
|
|
rs782034470 CA3445468 |
743 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146740259 CA3445469 |
743 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148870571 CA3445471 |
744 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 745 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA361225790 rs377323471 |
746 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3445472 rs377323471 |
746 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 746 | G>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3445473 rs782773634 |
747 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA361225829 rs1554118284 |
748 | W>* | No |
ClinGen gnomAD |
|
|
CA3445474 rs781886504 |
748 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA3445475 rs782539814 |
749 | S>W | No |
ClinGen ExAC |
|
|
rs1581599861 CA361225958 |
753 | Q>H | No |
ClinGen Ensembl |
|
|
rs1399334157 CA361225951 |
753 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs968810223 CA128362428 COSM1061814 COSM1061813 |
754 | R>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs968810223 CA361225977 |
754 | R>T | No |
ClinGen gnomAD |
|
|
rs782576028 CA3445477 |
755 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3445478 rs782479622 |
755 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs782576028 COSM213040 COSM213041 CA3445476 |
755 | R>W | lung Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA361226019 rs1314480997 |
756 | Q>E | No |
ClinGen TOPMed |
|
|
CA361226062 rs1415226074 |
757 | R>K | No |
ClinGen TOPMed |
|
|
CA3445480 rs553327374 |
758 | V>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs553327374 CA128362431 |
758 | V>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3445479 rs782616846 |
758 | V>L | No |
ClinGen ExAC gnomAD |
|
|
VAR_048522 CA3445481 rs2240695 |
759 | C>F | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA361226107 rs1581599916 |
759 | C>G | No |
ClinGen Ensembl |
|
| TCGA novel | 759 | C>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2240695 CA361226116 |
759 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs782023470 CA3445483 |
760 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs782023470 CA3445482 |
760 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs782310486 CA3445484 |
762 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144043934 CA3445486 |
762 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3445487 rs370642164 |
763 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs562336095 CA128362468 COSM1633982 COSM1633981 |
766 | K>N | liver [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed |
|
rs1581600000 CA361226273 |
766 | K>Q | No |
ClinGen Ensembl |
|
|
rs1554118297 CA361226311 |
767 | T>A | No |
ClinGen gnomAD |
|
|
CA3445491 rs188465198 CA3445490 |
768 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376391053 CA3445489 |
768 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361226392 rs1581600058 |
770 | M>L | No |
ClinGen Ensembl |
|
|
rs944090998 CA128362470 |
770 | M>T | No |
ClinGen Ensembl |
|
|
rs782718242 CA3445494 |
771 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs151013660 CA3445496 |
773 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151013660 CA3445497 |
773 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3445499 rs782556961 |
774 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 775 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 775 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1217551085 CA361226595 |
776 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1295101383 CA361226641 |
779 | S>G | No |
ClinGen TOPMed |
|
|
rs782196901 CA3445501 |
780 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3445502 rs370211278 |
781 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146361099 CA3445503 |
782 | T>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3445504 rs138990368 |
783 | S>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA361226782 rs1339683378 |
784 | E>G | No |
ClinGen TOPMed |
|
|
rs1333691049 CA361226812 |
786 | N>S | No |
ClinGen TOPMed |
|
|
rs373664432 CA3445508 |
791 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1554118313 CA361226942 |
791 | A>T | No |
ClinGen gnomAD |
|
|
CA3445509 rs782322992 |
794 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1332112190 CA361227024 |
794 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1332112190 CA361227020 |
794 | D>N | Variant assessed as Somatic; 5.042e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA361227027 rs1332112190 |
794 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3445510 rs373059383 |
795 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA361227109 rs1554118314 |
797 | G>V | No |
ClinGen gnomAD |
|
|
rs782073950 CA3454452 |
799 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA361259520 rs1490306705 |
799 | P>S | No |
ClinGen TOPMed |
|
|
rs374951627 CA3454453 |
800 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781913955 CA3454454 |
800 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA3454455 rs781913955 |
800 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs782109224 CA3454458 |
805 | D>H | No |
ClinGen ExAC |
|
|
COSM3696815 COSM3696819 COSM3696826 COSM3696817 CA3454459 COSM3696814 COSM3696822 COSM3696816 COSM3696828 COSM3696812 COSM3696820 rs782774245 COSM3696813 COSM3696823 COSM3696825 COSM3696821 COSM3696827 COSM3696818 COSM3696824 |
806 | W>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA361259640 rs782774245 |
806 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA3454460 rs141879545 |
807 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3454463 rs781815387 |
810 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138901709 CA3454464 |
811 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782686641 CA3454465 |
812 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1363421000 CA361259736 |
813 | R>I | No |
ClinGen TOPMed |
|
|
rs1586790986 CA361259751 |
814 | A>G | No |
ClinGen Ensembl |
|
|
CA3454466 rs782253140 |
815 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3454467 rs782336746 |
816 | M>V | No |
ClinGen ExAC |
|
|
CA361259787 rs1554240128 |
817 | H>N | No |
ClinGen gnomAD |
|
|
rs149397164 CA3454468 |
818 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs782426631 CA3454484 |
819 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782587733 CA3454485 |
819 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs782426631 CA361260538 |
819 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1181664726 CA361260559 |
820 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA361260577 rs1554244276 |
821 | H>P | No |
ClinGen gnomAD |
|
|
COSM1062442 COSM1062448 COSM1062450 rs782273708 COSM1062445 COSM1062454 COSM1062455 COSM1062443 COSM1062452 COSM1062456 COSM1062457 COSM1062451 COSM1062453 COSM1062449 COSM1062447 CA3454486 COSM1062444 |
821 | H>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3454488 rs782634646 |
823 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3454487 rs782419098 |
823 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs147537783 CA3454489 |
824 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs981642614 CA128362369 |
825 | A>T | No |
ClinGen Ensembl |
|
|
rs782347331 CA3454490 |
826 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361260711 rs1468199443 |
827 | I>V | No |
ClinGen TOPMed |
|
|
rs555523473 CA3454493 |
829 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs139355257 CA3454492 |
829 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs782025005 CA3454494 |
831 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA361260802 rs1278779763 |
832 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3454495 rs201991205 |
834 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3454497 rs201572428 |
836 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3454496 rs782766562 |
836 | D>V | No |
ClinGen ExAC |
|
|
rs1554244431 CA361260933 |
838 | Q>R | No |
ClinGen gnomAD |
|
|
CA3454498 rs782094765 |
839 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA3454499 RCV000950135 rs79247475 |
840 | P>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA128362405 rs369053351 |
840 | P>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1554244455 CA361260996 |
841 | T>A | No |
ClinGen gnomAD |
|
|
CA3454501 rs782544627 |
842 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3454502 rs577838197 |
844 | S>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3454504 rs781852534 |
844 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs781852534 CA3454503 |
844 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs782605920 CA3454505 |
844 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs199851685 CA3454506 |
846 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3454507 rs782437404 |
847 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs560422677 CA3454508 |
847 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs560422677 CA3454509 |
847 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA361261129 rs782437404 |
847 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs782179145 CA3454531 |
848 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA3454532 rs782321757 |
851 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1554262240 CA361268348 |
853 | E>G | No |
ClinGen gnomAD |
|
|
rs781996586 CA3454536 |
859 | 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 |
860 | A>V | lung prostate [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1588246273 CA361268557 |
862 | V>G | No |
ClinGen Ensembl |
|
|
CA3454540 rs782068657 |
862 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1563727066 CA361268679 |
866 | S>N | No |
ClinGen Ensembl |
|
|
COSM139598 COSM139601 COSM139604 COSM139606 COSM139609 COSM139603 COSM139600 COSM139611 COSM139608 rs1554262287 COSM139599 COSM139607 COSM139602 COSM139605 COSM139610 CA361268865 |
872 | G>E | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs900919931 CA128372514 |
872 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1554262289 CA361268920 |
874 | G>D | No |
ClinGen gnomAD |
|
|
CA3454542 rs575518914 |
876 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175529844 CA361268995 |
877 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA3454543 rs782119637 |
879 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA3454546 rs552954748 |
880 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552954748 CA3454545 |
880 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373683237 CA3454547 |
881 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1486746921 CA361269173 |
882 | G>S | No |
ClinGen TOPMed |
|
|
CA128372547 rs1057913 |
886 | D>A | No |
ClinGen Ensembl |
|
|
rs371269236 CA3454551 |
886 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3454552 rs782334415 |
887 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3454553 rs782623559 |
890 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3454555 rs782328874 |
891 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3454556 rs200822345 |
892 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3454559 rs782009776 |
896 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142720081 CA361269729 |
896 | I>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3454558 rs142720081 |
896 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs782087059 CA3454560 |
897 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1289763016 CA361269834 |
899 | I>V | No |
ClinGen TOPMed |
|
|
rs760426957 CA3454562 |
900 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1166265 COSM1166271 COSM1166266 COSM1166268 COSM1166267 COSM1166273 COSM1166276 COSM1166277 COSM1166272 COSM1166264 COSM1166279 rs147351924 CA3454561 COSM1166275 COSM1166269 COSM1166278 COSM1166270 COSM1166274 |
900 | R>W | large_intestine haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA361269875 rs1554262408 |
901 | Q>K | No |
ClinGen gnomAD |
|
|
CA361269953 rs1554262420 |
903 | P>A | No |
ClinGen gnomAD |
|
|
CA361269962 rs1359138927 |
903 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1314860754 CA361269972 |
904 | T>A | No |
ClinGen TOPMed |
|
|
CA361270002 rs1554262437 |
905 | N>K | No |
ClinGen TOPMed |
|
|
CA3454564 rs148436868 |
906 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1554262456 CA361270119 |
908 | I>T | No |
ClinGen gnomAD |
|
|
rs781853535 CA3454565 |
908 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs529364872 CA128372646 |
909 | D>E | No |
ClinGen Ensembl |
|
|
CA3454567 rs142570778 |
909 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA128372638 rs782057926 |
909 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA3454568 rs781835321 |
910 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs782451974 CA3454569 |
913 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3454570 rs782578873 |
915 | T>I | No |
ClinGen ExAC |
|
|
rs782274123 CA3454571 |
916 | F>S | No |
ClinGen ExAC gnomAD |
|
|
COSM216699 COSM216705 CA3454573 COSM216710 rs782642898 COSM1158471 COSM216696 COSM216700 COSM216702 COSM216709 COSM216704 COSM216698 COSM216697 COSM216706 COSM216707 COSM216701 COSM216703 COSM216708 |
917 | G>S | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3454574 rs782270689 |
919 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs782270689 CA361270554 |
919 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1259591783 CA361270565 |
920 | E>Q | No |
ClinGen TOPMed |
|
|
CA361270593 rs1554262487 |
921 | E>D | No |
ClinGen gnomAD |
|
|
CA3454575 rs782348993 |
922 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs781972089 CA3454577 |
923 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1554262492 CA361270633 |
923 | K>R | No |
ClinGen gnomAD |
|
|
rs374660085 CA3454578 |
928 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA361270828 rs1554262513 |
929 | K>R | No |
ClinGen gnomAD |
|
|
CA3454579 rs782413551 |
930 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs782413551 CA361270853 |
930 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1307653192 CA361270984 |
933 | K>N | No |
ClinGen TOPMed |
|
|
CA128372721 rs184181976 |
933 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs1554262529 CA361271070 |
936 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs782776948 CA3454583 |
938 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3454584 rs781954349 |
941 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA361271296 rs1295693430 |
942 | N>D | No |
ClinGen TOPMed |
|
|
rs1554262551 CA361271322 |
942 | N>K | No |
ClinGen gnomAD |
|
|
CA361271306 rs1415929182 |
942 | N>S | No |
ClinGen TOPMed |
|
|
CA128372734 rs958247947 |
943 | S>G | No |
ClinGen Ensembl |
|
|
CA128372735 rs17855798 |
943 | S>N | No |
ClinGen Ensembl |
|
|
COSM1434122 COSM1434119 CA3454585 COSM1434134 COSM1434133 COSM1434130 COSM1434131 COSM1434125 COSM1434126 COSM1434124 COSM1434127 COSM1434129 COSM1434121 COSM1434120 COSM1434123 rs199928168 COSM1434128 COSM1434132 |
944 | T>M | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA361271405 rs1301104421 |
945 | T>A | No |
ClinGen TOPMed |
|
|
CA361271440 rs1554262572 |
946 | D>E | No |
ClinGen gnomAD |
|
|
CA361271462 rs1463725058 |
947 | N>Y | No |
ClinGen TOPMed |
No associated diseases with Q9Y5I3
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| 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. |
22 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q3SWX5 | CDH6 | Cadherin-6 | Bos taurus (Bovine) | PR |
| Q5DRF5 | PCDHA1 | Protocadherin alpha-1 | Pan troglodytes (Chimpanzee) | 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 |
| Q9Y5H7 | PCDHA5 | Protocadherin alpha-5 | Homo sapiens (Human) | PR |
| Q9UN73 | PCDHA6 | Protocadherin alpha-6 | Homo sapiens (Human) | PR |
| Q9Y5H6 | PCDHA8 | Protocadherin alpha-8 | 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 |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MVFSRRGGLG | ARDLLLWLLL | LAAWEVGSGQ | LHYSIPEEAK | HGTFVGRVAQ | DLGLELAELV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| PRLFRVASKT | HRDLLEVNLQ | NGILFVNSRI | DREELCQWSA | ECSIHLELIA | DRPLQVFHVE |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VKVKDINDNP | PVFRGREQII | FIPESRLLNS | RFPIEGAADA | DIGANALLTY | TLSPSDYFSL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| DVEASDELSK | SLWLELRKYL | DREETPELHL | LLTATDGGKP | ELQGTVELLI | TVLDVNDNAP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LFDQAVYRVH | LLETTANGTL | VTTLNASDAD | EGVNGEVVFS | FDSGISRDIQ | EKFKVDSSSG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EIRLIDKLDY | EETKSYEIQV | KAVDKGSPPM | SNHCKVLVKV | LDVNDNAPEL | AVTSLYLPIR |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EDAPLSTVIA | LITVSDRDSG | ANGQVTCSLM | PHVPFKLVST | FKNYYSLVLD | SALDRESLSV |
| 430 | 440 | 450 | 460 | 470 | 480 |
| YELVVTARDG | GSPSLWATAR | VSVEVADVND | NAPAFAQPEY | TVFVKENNPP | GCHIFTVSAR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DADAQENALV | SYSLVERRVG | ERALSNYVSV | HAESGKVYAL | QPLDHEELEL | LQFQVSARDA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| GVPPLGSNVT | LQVFVLDEND | NAPALLAPRV | GGTIGAVSEL | VPRLVGAGHV | VAKVRAVDAD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SGYNAWLSYE | LQPAAGGARI | PFRVGLYTGE | ISTTRVLDEA | DLSRYRLLVL | VKDHGEPALT |
| 670 | 680 | 690 | 700 | 710 | 720 |
| ATATVLVSLV | ESGQAPKASS | RASVGVAGPE | AALVDVNVYL | IIAICAVSSL | LVLTLLLYTA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LRCSVPPTEG | AYVPGKPTLV | CSSALGSWSN | SQQRRQRVCS | SEGPPKTDLM | AFSPGLSPSL |
| 790 | 800 | 810 | 820 | 830 | 840 |
| NTSERNEQPE | ANLDLSGNPR | QPNPDWRYSA | SLRAGMHSSV | HLEEAGILRA | GPGGPDQQWP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TVSSATPEPE | AGEVSPPVGA | GVNSNSWTFK | YGPGNPKQSG | PGELPDKFII | PGSPAIISIR |
| 910 | 920 | 930 | 940 | ||
| QEPTNSQIDK | SDFITFGKKE | ETKKKKKKKK | GNKTQEKKEK | GNSTTDNSDQ |