Q7Z745
PR
Gene name |
MROH2B |
Protein name |
Maestro heat-like repeat-containing protein family member 2B |
Names |
HEAT repeat-containing protein 7B2, Sperm PKA-interacting factor, SPIF |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:133558 |
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 Q7Z745
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7Z745-F1 | Predicted | AlphaFoldDB |
915 variants for Q7Z745
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1394921587 CA359609687 |
2 | T>A | No |
ClinGen gnomAD |
|
|
CA359609682 rs754152435 COSM3410283 |
3 | L>I | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs766773821 CA3251996 |
3 | L>P | No |
ClinGen ExAC gnomAD |
|
| rs1561312261 | 3 | L>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754152435 CA3251997 |
3 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs760754254 CA3251995 |
5 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1457628035 CA359609670 |
5 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
rs760754254 CA359609666 |
5 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA117782353 rs866010781 COSM4139238 |
7 | E>K | pancreas [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1356989431 CA359609653 |
7 | E>V | No |
ClinGen TOPMed |
|
|
CA117782351 rs868730638 |
8 | S>F | No |
ClinGen Ensembl |
|
|
CA359609642 rs1468760952 |
9 | I>K | No |
ClinGen gnomAD |
|
| TCGA novel | 9 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468760952 CA359609641 |
9 | I>T | No |
ClinGen gnomAD |
|
|
rs755413766 CA3251981 |
10 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA3251979 rs766607757 |
11 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA359609618 rs13174484 |
11 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359609616 rs1380037911 |
11 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3251980 rs13174484 VAR_042983 |
11 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA117781389 rs986472721 |
14 | D>G | No |
ClinGen TOPMed |
|
|
CA359609598 rs1453679037 |
14 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3251978 rs562749956 |
16 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3251977 rs750795542 |
19 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs944422001 CA117781365 CA359609547 |
21 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA359609550 rs1229085483 |
21 | M>T | No |
ClinGen gnomAD |
|
|
CA359609553 rs1276104927 |
21 | M>V | No |
ClinGen gnomAD |
|
|
CA3251976 rs184558928 |
23 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359609530 rs1438413316 |
24 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA359609529 rs1438413316 |
24 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs267600635 CA117781337 |
25 | E>* | No |
ClinGen Ensembl |
|
|
rs267600635 CA117781336 |
25 | E>K | No |
ClinGen Ensembl |
|
|
CA117781319 rs372226403 |
27 | I>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3251974 rs372226403 |
27 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3251975 rs762182319 |
27 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA359609508 rs1245593193 |
28 | V>I | No |
ClinGen TOPMed |
|
|
rs764274471 CA3251973 |
29 | N>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 32 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1230762999 CA359609426 |
37 | L>F | No |
ClinGen gnomAD |
|
|
rs1007274154 CA117779081 |
38 | T>S | No |
ClinGen Ensembl |
|
|
CA117779052 rs866872502 |
39 | S>F | No |
ClinGen Ensembl |
|
|
CA359609409 rs1287862903 |
40 | V>D | No |
ClinGen TOPMed |
|
|
CA359609392 rs1343916203 |
42 | Q>H | No |
ClinGen gnomAD |
|
|
CA3251965 rs746672119 |
44 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359609378 rs1369965342 |
45 | D>N | No |
ClinGen gnomAD |
|
|
rs777211208 CA3251964 |
46 | I>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 49 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs139046598 CA3251963 |
51 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 52 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359609321 rs1413809074 |
53 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 53 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359609319 rs1182376064 |
53 | Q>R | No |
ClinGen gnomAD |
|
|
CA3251962 rs562368242 |
54 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1230632961 CA359609313 |
54 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1230632961 CA359609314 COSM3828086 |
54 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA117778999 rs745529547 |
57 | Y>C | No |
ClinGen gnomAD |
|
|
rs186305102 CA3251961 |
58 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359609277 rs1579964141 |
60 | S>T | No |
ClinGen Ensembl |
|
| TCGA novel | 61 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373084922 CA117778980 |
62 | D>H | No |
ClinGen ESP TOPMed |
|
|
rs1250794965 CA359609256 |
63 | M>L | No |
ClinGen gnomAD |
|
|
rs1188361897 CA359609252 |
63 | M>T | No |
ClinGen TOPMed |
|
|
rs866288127 CA117778978 |
64 | R>K | No |
ClinGen gnomAD |
|
|
rs756629778 CA3251960 |
65 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA359609230 rs1337446980 |
66 | N>S | No |
ClinGen Ensembl |
|
|
rs750788588 CA3251959 |
67 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA359609223 rs1161975937 |
67 | N>S | No |
ClinGen TOPMed |
|
|
CA3251949 rs201539937 |
69 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3251950 rs752755291 |
69 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 70 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359609179 rs1579962686 |
72 | I>V | No |
ClinGen Ensembl |
|
|
CA359609162 rs1230169115 CA359609160 |
74 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA3251948 rs376622338 |
74 | M>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376622338 CA117777508 |
74 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1284128405 CA359609155 |
75 | L>P | No |
ClinGen gnomAD |
|
|
CA3251946 rs770729339 |
76 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770729339 CA359609150 |
76 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451041674 CA359609152 |
76 | A>T | No |
ClinGen gnomAD |
|
| TCGA novel | 77 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA117777480 rs886074690 |
78 | E>D | No |
ClinGen Ensembl |
|
|
CA359609120 rs1343139926 |
81 | V>E | No |
ClinGen gnomAD |
|
|
rs760275643 CA359609122 |
81 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs760275643 CA3251945 |
81 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3251944 rs772886865 |
83 | L>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 84 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1307358470 CA359609101 |
84 | A>V | No |
ClinGen TOPMed |
|
|
CA359609098 rs747673478 |
85 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA3251943 rs769340730 |
85 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3251942 rs747673478 |
85 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs778346566 CA3251941 |
86 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 87 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1372195553 CA359609077 |
88 | F>C | No |
ClinGen gnomAD |
|
|
CA359609072 rs1248547445 |
89 | N>D | No |
ClinGen gnomAD |
|
|
rs1248547445 CA359609073 |
89 | N>H | No |
ClinGen gnomAD |
|
|
rs1466891132 CA359609049 |
92 | M>T | No |
ClinGen TOPMed |
|
|
CA117777394 rs1048792102 |
95 | V>A | No |
ClinGen Ensembl |
|
|
rs1187746580 CA359609028 |
95 | V>I | No |
ClinGen gnomAD |
|
|
CA359609021 rs1484770960 |
96 | Q>* | No |
ClinGen gnomAD |
|
|
CA359609006 rs1240640933 |
98 | N>D | No |
ClinGen gnomAD |
|
|
rs1223982209 CA359608989 |
100 | R>K | No |
ClinGen gnomAD |
|
|
CA3251939 rs557750088 |
102 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3251938 rs369722208 |
103 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3251936 rs751788339 |
105 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs375621033 CA3251935 |
106 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3828085 rs866821374 CA117777348 |
106 | D>N | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA359608934 rs371986783 |
108 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752804955 CA3251933 |
109 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs752804955 CA359608932 |
109 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs765240238 CA3251932 |
110 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA359608922 rs980329082 |
111 | L>I | No |
ClinGen TOPMed |
|
|
CA117777329 rs980329082 |
111 | L>V | No |
ClinGen TOPMed |
|
|
rs753798819 CA3251930 |
112 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA359608892 rs191930897 |
116 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760432727 CA3251928 |
117 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767188630 CA3251926 |
119 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1426928511 CA359608871 |
119 | S>N | No |
ClinGen gnomAD |
|
|
CA359608867 rs1488955450 |
120 | Y>H | No |
ClinGen gnomAD |
|
|
rs371197953 CA3251907 |
121 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359608830 CA359608831 rs1229782632 |
123 | Q>H | No |
ClinGen gnomAD |
|
|
CA359608828 rs1350609394 |
124 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 126 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763618998 CA3251904 |
126 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA359608794 CA3251903 rs376358776 |
128 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1579961731 COSM738791 CA359608786 |
129 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA359608783 rs1183513800 |
130 | M>V | No |
ClinGen TOPMed |
|
|
rs200448809 CA3251902 |
131 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3251901 rs771548739 |
131 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA359608770 rs1174584295 |
132 | L>V | No |
ClinGen gnomAD |
|
|
CA359608755 rs1579961691 TCGA novel |
134 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA3251898 rs188127888 |
135 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1258956255 CA359608733 |
137 | T>I | No |
ClinGen gnomAD |
|
|
rs1461151362 CA359608729 |
138 | M>K | No |
ClinGen gnomAD |
|
|
rs1461151362 CA359608728 |
138 | M>T | No |
ClinGen gnomAD |
|
|
rs1261619087 CA359608723 |
139 | L>F | No |
ClinGen gnomAD |
|
|
rs755242461 CA3251895 |
143 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA117776512 rs1013904961 |
143 | E>V | No |
ClinGen Ensembl |
|
|
rs749356632 CA3251894 |
144 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs866382870 CA117776511 |
144 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs867084467 CA117776503 |
145 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs780177224 CA3251893 |
146 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 147 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359608673 rs1392242842 |
147 | M>V | No |
ClinGen TOPMed |
|
|
CA359608661 rs1309427039 |
148 | K>R | No |
ClinGen TOPMed |
|
|
rs78363009 CA359608654 |
149 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3251889 rs78363009 |
149 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs757033764 CA3251888 |
150 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs145623328 CA3251886 |
153 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1158199010 CA359608627 |
153 | I>M | No |
ClinGen gnomAD |
|
|
CA3251885 rs763628705 |
153 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359608606 rs1276706489 |
155 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA359608602 rs1561307405 |
156 | E>* | No |
ClinGen Ensembl |
|
|
rs202053631 CA3251863 |
158 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3251862 rs202053631 |
158 | F>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359608565 rs1235119079 |
161 | A>P | No |
ClinGen gnomAD |
|
|
CA359608564 rs1235119079 |
161 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM3381263 rs753440656 CA3251861 |
162 | I>F | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA359608557 rs1284143046 |
162 | I>T | No |
ClinGen gnomAD |
|
|
CA559297131 rs1166558936 |
165 | Y>* | No |
ClinGen gnomAD |
|
|
CA359608532 rs1259106978 |
165 | Y>* | No |
ClinGen TOPMed |
|
|
CA359608536 rs1363719061 |
165 | Y>D | No |
ClinGen gnomAD |
|
|
CA359608527 rs1410970792 |
166 | V>D | No |
ClinGen gnomAD |
|
|
rs1310419445 CA359608528 |
166 | V>I | No |
ClinGen gnomAD |
|
|
rs376766065 CA3251859 |
167 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs535629511 CA117773669 |
167 | N>S | No |
ClinGen Ensembl |
|
|
COSM1543976 rs774513730 CA3251858 |
169 | W>* | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1203036736 CA359608505 |
169 | W>L | No |
ClinGen TOPMed |
|
|
rs1579959404 CA359608502 |
170 | R>G | No |
ClinGen Ensembl |
|
|
CA3251857 rs769024339 |
170 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763111026 CA359608490 |
171 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867618129 CA117773664 |
171 | D>N | No |
ClinGen Ensembl |
|
|
rs1579959376 CA359608472 |
174 | Y>S | No |
ClinGen Ensembl |
|
|
CA3251853 rs267600634 |
176 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA117773634 rs267600634 |
176 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs745912934 CA3251852 |
177 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1263991768 CA359608439 |
179 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 180 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs575370965 CA3251850 |
180 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM2150781 CA3251849 rs200958096 |
181 | R>* | Variant assessed as Somatic; 9.282e-05 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA3251848 rs758302074 |
181 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3251847 rs758302074 |
181 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs373008743 CA117773570 |
186 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3251845 rs373008743 |
186 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3251844 rs754721546 |
187 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA359608388 rs1305004436 |
188 | M>I | No |
ClinGen TOPMed |
|
|
rs1016583192 CA117773511 |
188 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA3251842 rs765918683 CA3251843 |
188 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1016583192 CA117773512 |
188 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3251839 rs1023840 |
191 | W>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA117773478 rs386687544 |
191 | W>Q | No |
ClinGen Ensembl |
|
|
rs865093 VAR_042984 CA3251840 |
191 | W>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs763271688 CA3251838 |
192 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs571200111 CA3251835 |
193 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765428016 CA3251836 |
193 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359608357 rs1231114483 |
193 | I>V | No |
ClinGen gnomAD |
|
|
rs771053680 CA3251833 |
194 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs754740107 CA359608350 |
194 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs754740107 CA117773419 |
194 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3251832 rs746883287 |
196 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359608333 rs1270248003 CA359608334 |
196 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1036570558 CA117773412 |
196 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1036570558 CA359608335 |
196 | K>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3251831 rs773256355 |
197 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359608329 rs773256355 |
197 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359608321 rs772188557 |
198 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3251830 rs772188557 |
198 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359608311 rs1561307161 |
200 | L>S | No |
ClinGen Ensembl |
|
|
rs1384021151 CA359608312 |
200 | L>V | No |
ClinGen gnomAD |
|
|
CA359608304 rs1167085021 |
201 | A>D | No |
ClinGen TOPMed |
|
|
rs1167085021 CA359608303 |
201 | A>G | No |
ClinGen TOPMed |
|
|
CA3251828 rs748291372 |
201 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 202 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359608296 rs1450875415 |
202 | S>L | No |
ClinGen gnomAD |
|
|
rs754520397 CA3251827 |
203 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs748985323 CA3251826 |
204 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs768520057 CA3251809 |
207 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA3251808 rs748853904 |
208 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs779723416 COSM1319195 CA3251807 |
208 | S>R | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA3251806 rs769380827 |
209 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1579956473 COSM3410281 CA359608238 |
210 | V>I | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs758832455 CA3251803 |
212 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA117770820 rs779094899 |
213 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs753212213 CA3251802 |
213 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs527246938 CA3251799 |
217 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA359608185 rs1579956426 |
218 | S>I | No |
ClinGen Ensembl |
|
|
CA3251793 rs750462583 |
222 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs368563285 CA3251791 |
223 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368563285 CA3251790 |
223 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1402337721 CA359608148 |
224 | E>D | No |
ClinGen TOPMed |
|
|
rs541511865 CA359608147 |
225 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3251789 rs541511865 |
225 | D>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359608130 rs1407999857 |
227 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA3251788 rs762785601 COSM3410280 |
227 | R>H | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA359608132 rs1407999857 |
227 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA359608115 rs1201772851 |
229 | Y>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1461880389 CA359608112 |
230 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3251787 rs769482829 |
231 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359608101 rs1394976592 |
232 | G>D | No |
ClinGen Ensembl |
|
|
rs200922186 CA3251785 |
232 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3251784 rs375560826 |
235 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA359608082 rs1388878875 |
235 | P>S | No |
ClinGen gnomAD |
|
|
CA3251783 rs770449392 |
236 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA3251782 rs748612046 |
237 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs755496405 CA3251780 |
239 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA117770714 rs995672308 |
240 | Q>R | No |
ClinGen TOPMed |
|
|
CA3251777 rs566162189 |
243 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs898280123 CA117770707 |
243 | D>H | No |
ClinGen TOPMed |
|
|
CA3251778 rs754227180 |
243 | D>V | No |
ClinGen ExAC gnomAD |
|
| rs1345868427 | 244 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756350684 CA3251776 |
244 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA3251775 rs750699963 |
245 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs761955287 CA3251773 |
249 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1374058264 CA359607987 |
249 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA117770671 rs752209202 |
250 | V>A | No |
ClinGen Ensembl |
|
|
rs1360638897 CA359607973 |
251 | T>S | No |
ClinGen gnomAD |
|
|
CA359607965 rs1178876422 |
252 | Q>H | No |
ClinGen gnomAD |
|
|
rs781540317 CA3251757 |
253 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1561304600 CA359607938 |
255 | K>E | No |
ClinGen Ensembl |
|
|
CA359607914 rs757608933 |
258 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3251756 rs757608933 |
258 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359607907 rs1380218973 |
259 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 259 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359607905 rs1384089639 |
260 | A>T | No |
ClinGen gnomAD |
|
|
rs1354529384 CA359607900 |
261 | A>T | No |
ClinGen TOPMed |
|
|
rs751650589 CA3251755 |
262 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA117767156 rs10045243 VAR_042985 |
263 | L>I | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA3251754 rs764081007 |
264 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3251753 rs200045457 |
265 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752597806 CA3251752 |
266 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764976000 CA3251751 |
267 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA3251750 rs200696573 |
268 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3251749 rs200696573 |
268 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766017498 CA3251748 |
270 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1443217743 CA359607845 |
270 | R>S | No |
ClinGen TOPMed |
|
|
rs78281607 CA3251746 |
271 | S>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs562580068 CA3251747 |
271 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1490678456 CA359607830 |
273 | R>G | No |
ClinGen gnomAD |
|
|
CA359607827 rs1292427174 |
273 | R>T | No |
ClinGen gnomAD |
|
|
CA359607821 rs1357048459 |
274 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359607820 rs1357048459 |
274 | R>T | No |
ClinGen gnomAD |
|
|
rs1579955457 CA359607814 |
275 | S>A | No |
ClinGen Ensembl |
|
|
CA3251745 rs370738850 |
275 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1295117870 CA359607799 |
277 | F>C | No |
ClinGen gnomAD |
|
|
rs1295117870 CA359607800 |
277 | F>S | No |
ClinGen gnomAD |
|
|
rs568524376 CA117767107 |
279 | N>S | No |
ClinGen gnomAD |
|
|
CA359607767 rs1347406040 |
282 | Q>* | No |
ClinGen gnomAD |
|
|
rs776112856 CA3251743 |
282 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA359607765 rs1304317242 |
282 | Q>R | No |
ClinGen gnomAD |
|
|
CA3251742 rs770475505 |
283 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359607723 rs1196745191 |
287 | A>T | No |
ClinGen TOPMed |
|
|
rs760329436 CA3251728 |
288 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA359607707 rs1168135759 |
289 | E>V | No |
ClinGen gnomAD |
|
|
rs1470774715 CA359607697 |
291 | P>A | No |
ClinGen gnomAD |
|
|
CA359607692 rs1181662840 |
292 | V>L | No |
ClinGen TOPMed |
|
|
rs1021503017 CA117767018 |
293 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 293 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 297 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359607654 rs1476751946 |
297 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3251726 rs370430689 |
298 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774059836 CA3251725 |
300 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774059836 CA3251724 |
300 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3251723 rs770416497 |
301 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA117766985 rs761250159 |
301 | S>I | No |
ClinGen Ensembl |
|
|
CA359607620 rs1368700238 |
302 | C>Y | No |
ClinGen gnomAD |
|
|
CA359607603 rs1325996008 |
304 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs771222591 CA359607600 |
305 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA3251720 rs771222591 |
305 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs373575388 CA3251719 |
306 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs773695331 CA3251699 |
307 | A>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA3251700 rs773695331 |
307 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA359607573 rs1579954257 |
308 | H>R | No |
ClinGen Ensembl |
|
|
CA3251698 rs376191429 |
309 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359607565 rs376191429 |
309 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359607560 rs1244045719 |
310 | N>S | No |
ClinGen gnomAD |
|
|
rs1012688015 CA117765966 |
311 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA117765968 rs867812400 |
311 | P>S | No |
ClinGen gnomAD |
|
|
rs778916080 CA3251696 |
312 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1241979502 CA359607537 |
314 | L>P | No |
ClinGen TOPMed |
|
|
CA359607534 rs1579954206 |
315 | M>V | No |
ClinGen Ensembl |
|
|
CA3251694 rs749413714 |
316 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 317 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359607509 rs1350961241 |
318 | F>L | No |
ClinGen TOPMed |
|
|
CA3251693 rs779836244 |
318 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs72751673 CA3251691 |
324 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750177802 CA3251690 |
325 | N>T | No |
ClinGen ExAC |
|
|
rs1321924088 CA359607445 |
326 | N>K | No |
ClinGen gnomAD |
|
|
CA117765910 rs267600633 |
327 | E>K | No |
ClinGen Ensembl |
|
|
rs1487825966 CA359607432 |
328 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs781042523 CA3251688 |
329 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756798665 CA3251687 |
330 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756798665 CA359607425 |
330 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA117765887 rs61609768 |
330 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61609768 CA3251686 |
330 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359607418 rs1454535301 |
331 | V>G | No |
ClinGen TOPMed |
|
|
rs1304914043 CA359607421 |
331 | V>L | No |
ClinGen gnomAD |
|
|
CA359607393 rs1364865414 |
335 | T>I | No |
ClinGen gnomAD |
|
|
TCGA novel rs763656817 CA3251685 |
335 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA117765878 rs945649982 |
336 | L>* | No |
ClinGen TOPMed |
|
|
rs201661227 CA117765876 |
336 | L>F | No |
ClinGen Ensembl |
|
|
CA3251683 COSM1209469 rs752302843 |
337 | L>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1477548199 CA359607363 |
340 | A>V | No |
ClinGen gnomAD |
|
|
rs372868448 CA3251679 |
342 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761984238 CA3251678 |
343 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1265369993 CA359607338 |
344 | D>V | No |
ClinGen gnomAD |
|
|
rs750972720 CA3251661 |
345 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA117765413 rs371244989 |
346 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1373922352 CA359607311 |
347 | R>G | No |
ClinGen gnomAD |
|
|
CA359607308 rs1195833757 |
347 | R>T | No |
ClinGen TOPMed |
|
|
rs325874 CA3251660 |
348 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs774757854 CA3251658 |
349 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs374763075 CA359607292 |
350 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374763075 CA3251657 |
350 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs937277729 CA117765408 |
352 | I>T | No |
ClinGen TOPMed |
|
|
CA359607256 rs1327436914 |
355 | I>L | No |
ClinGen Ensembl |
|
|
CA3251656 rs370194636 |
355 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3251655 rs775372464 |
357 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA359607237 rs1174007352 |
358 | T>A | No |
ClinGen gnomAD |
|
|
CA359607222 rs1161652697 |
360 | K>R | No |
ClinGen TOPMed |
|
|
CA3251653 rs184226751 |
362 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200001620 CA3251651 |
363 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776600257 CA3251652 |
363 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA3251650 rs746785553 |
364 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA359607194 rs1300361832 |
365 | D>H | No |
ClinGen TOPMed |
|
|
CA117765371 rs1016600209 |
367 | S>N | No |
ClinGen gnomAD |
|
|
rs1399883999 CA359607170 |
368 | T>K | No |
ClinGen TOPMed |
|
|
COSM1437602 CA3251628 rs376480087 |
373 | S>Y | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA |
|
rs539161164 CA117764081 |
374 | V>F | No |
ClinGen Ensembl |
|
| TCGA novel | 376 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs896053805 CA117764056 |
379 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA359607089 rs896053805 |
379 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1298151779 CA359607086 |
379 | Q>L | No |
ClinGen gnomAD |
|
|
rs779547739 CA3251624 |
380 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA359607079 rs1315529666 |
380 | T>I | No |
ClinGen TOPMed |
|
|
CA359607063 rs1367973049 |
382 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA359607065 rs1367973049 |
382 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs757700578 CA3251623 |
383 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366369791 CA359607049 |
384 | K>R | No |
ClinGen gnomAD |
|
|
rs1172025149 CA359607035 |
386 | Y>C | No |
ClinGen gnomAD |
|
|
CA3251620 rs540024081 |
387 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA117764024 rs992392877 |
389 | A>G | No |
ClinGen gnomAD |
|
|
CA359607013 rs992392877 |
389 | A>V | No |
ClinGen gnomAD |
|
|
CA3251618 COSM2150535 rs566379429 |
390 | R>Q | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA3251619 rs753051490 |
390 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed |
|
CA3251617 rs759741202 |
391 | E>K | Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs868396601 CA117763998 |
393 | W>* | No |
ClinGen Ensembl |
|
|
CA359606991 rs1353921514 |
393 | W>* | No |
ClinGen gnomAD |
|
|
rs185312266 COSM1437601 CA3251615 |
394 | P>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs773252644 CA3251613 |
396 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA359606961 rs772186385 |
398 | Y>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3251612 rs772186385 |
398 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1324722439 CA359606936 |
401 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs144252622 CA3251610 |
402 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3251609 rs768290943 |
403 | F>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 404 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748910666 CA3251608 |
405 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs373485768 CA3251607 |
405 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1422454534 CA359606908 |
406 | L>* | No |
ClinGen gnomAD |
|
|
rs149557394 CA3251605 |
406 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA359606900 rs1481095143 |
407 | N>S | No |
ClinGen gnomAD |
|
|
rs371727298 CA3251604 |
409 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA117763930 rs995976598 |
409 | N>S | No |
ClinGen Ensembl |
|
|
CA359606861 rs779296721 |
411 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241346291 CA359606867 |
411 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA359606846 rs1454282959 |
413 | P>L | No |
ClinGen gnomAD |
|
|
rs1306669232 CA359606849 |
413 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3251583 rs755267264 |
416 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA3251582 rs749721054 |
417 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429326978 CA359606818 |
418 | F>L | No |
ClinGen TOPMed |
|
|
CA3251581 rs780411971 |
419 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1451531573 CA359606794 |
421 | N>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 422 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359606770 rs1418902883 |
424 | E>* | No |
ClinGen gnomAD |
|
|
rs865973702 CA117763026 |
426 | E>K | No |
ClinGen Ensembl |
|
|
CA359606746 rs867997602 |
427 | S>C | No |
ClinGen gnomAD |
|
|
rs867997602 CA117763020 |
427 | S>F | No |
ClinGen gnomAD |
|
|
CA3251579 rs199947222 |
427 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM2690280 CA3251577 rs757174086 |
429 | R>* | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs189374949 CA3251576 |
429 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369075850 CA3251575 |
430 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs368672505 CA3251574 |
431 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359606727 rs1217939426 |
431 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs764864617 CA359606719 CA3251572 |
432 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775318488 CA3251573 |
432 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1041789164 CA117762994 |
433 | L>R | No |
ClinGen TOPMed |
|
|
CA3251571 rs373949637 |
434 | E>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA359606704 rs1379523439 |
435 | V>F | No |
ClinGen gnomAD |
|
|
CA117762985 rs868088733 |
437 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 438 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770370106 CA3251569 |
439 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1418728899 CA359606679 |
439 | L>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 440 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746569588 COSM3410279 CA3251568 |
441 | P>T | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1405671890 CA359606656 |
443 | V>A | No |
ClinGen gnomAD |
|
|
rs769265908 CA3251566 |
443 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1579949942 CA359606629 |
447 | P>S | No |
ClinGen Ensembl |
|
|
rs1473627860 CA359606599 |
450 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1579948780 CA359606585 |
452 | P>T | No |
ClinGen Ensembl |
|
|
rs199554440 CA3251545 |
454 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746281100 CA3251544 |
456 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA117762160 rs746281100 COSM86367 |
456 | T>N | ovary large_intestine Variant assessed as Somatic; impact. central_nervous_system [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 457 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1403253287 CA359606552 |
457 | F>S | No |
ClinGen TOPMed |
|
|
rs771239766 CA3251542 |
458 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3251541 rs747052785 |
460 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA3251540 rs777911839 |
461 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3251538 rs752653852 |
462 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370196480 CA3251539 |
462 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs778638414 CA3251537 |
463 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA3251536 rs754746478 |
464 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 465 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3251535 rs376355835 |
466 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376355835 CA117762143 |
466 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1371813390 CA359606495 |
467 | L>V | No |
ClinGen TOPMed |
|
|
CA3251533 rs17198125 |
468 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_042986 CA3251532 rs17198125 |
468 | E>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1389651560 CA359606485 |
469 | P>T | No |
ClinGen Ensembl |
|
|
CA359606470 rs1220928019 |
471 | F>S | No |
ClinGen TOPMed |
|
|
CA117762119 rs989144478 |
472 | S>G | No |
ClinGen TOPMed |
|
|
rs1189848128 CA359606452 |
474 | I>L | No |
ClinGen gnomAD |
|
|
rs1441868713 CA359606448 |
474 | I>N | No |
ClinGen gnomAD |
|
| TCGA novel | 476 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3251528 rs565442512 |
479 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3251529 rs532705289 |
479 | M>V | No |
ClinGen 1000Genomes ExAC |
|
| TCGA novel | 481 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759804207 CA117762106 |
483 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA3251525 rs199617046 |
484 | K>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3251523 rs747266942 |
486 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1276336795 CA359606357 |
487 | S>T | No |
ClinGen gnomAD |
|
|
rs777780914 CA3251522 |
488 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371443780 CA359606338 |
490 | E>A | No |
ClinGen gnomAD |
|
|
CA117762072 rs377405961 |
490 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA3251521 rs189991991 COSM1068288 |
491 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1350012764 CA359606301 |
496 | V>D | No |
ClinGen TOPMed |
|
|
VAR_042987 rs325864 CA3251516 |
496 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA359606304 rs325864 |
496 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779915399 CA3251515 |
498 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3251513 rs750126047 |
498 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3251514 rs750126047 |
498 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267600632 CA117762032 |
499 | G>E | No |
ClinGen Ensembl |
|
|
rs756802256 CA3251511 |
500 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3251510 rs751168575 |
500 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA359606268 rs1251241146 |
501 | V>A | No |
ClinGen gnomAD |
|
|
CA3251509 rs770054040 |
501 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA117762029 rs770054040 |
501 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3251499 rs768422498 |
502 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3251498 rs749272301 |
503 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451994737 CA359606253 |
504 | P>A | No |
ClinGen gnomAD |
|
|
rs1484342950 CA359606247 |
505 | S>P | No |
ClinGen gnomAD |
|
|
rs1369851141 CA359606232 |
507 | Q>R | No |
ClinGen gnomAD |
|
|
CA359606221 rs1164972192 |
508 | Q>H | No |
ClinGen gnomAD |
|
|
rs1422756903 CA359606211 |
510 | L>R | No |
ClinGen gnomAD |
|
| TCGA novel | 511 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3251497 rs372907780 |
511 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359606206 rs1488616502 |
511 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 513 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 514 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359606175 rs774367985 |
515 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA3251482 rs774367985 |
515 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA359606167 rs1225926980 |
516 | I>T | No |
ClinGen gnomAD |
|
|
CA3251481 rs768814531 |
516 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1333310927 CA359606157 |
518 | M>L | No |
ClinGen gnomAD |
|
|
CA359606154 rs1302478905 |
518 | M>T | No |
ClinGen gnomAD |
|
|
CA359606149 rs1244886350 |
519 | P>S | No |
ClinGen TOPMed |
|
|
CA117761536 rs959442554 |
520 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs762987234 CA3251480 |
523 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA359606118 rs1332899394 |
524 | E>K | No |
ClinGen gnomAD |
|
|
rs1465718863 CA359606110 |
525 | L>I | No |
ClinGen gnomAD |
|
|
CA359606101 rs1398976081 |
526 | R>C | No |
ClinGen gnomAD |
|
|
rs13173930 CA3251479 VAR_042988 |
526 | R>H | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3251475 rs770647307 |
530 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3251474 rs746679469 |
531 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs866591320 CA117761491 |
532 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA117761493 rs985170492 |
532 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 534 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757894069 CA3251472 |
536 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs752197247 CA3251471 |
536 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1561299685 CA359606029 |
538 | P>L | No |
ClinGen Ensembl |
|
|
rs1257042282 CA359606033 |
538 | P>T | No |
ClinGen gnomAD |
|
|
CA359606016 rs1233015728 |
540 | I>T | No |
ClinGen gnomAD |
|
|
CA359606002 rs1369184944 |
542 | H>R | No |
ClinGen gnomAD |
|
|
rs1447131866 COSM3674447 CA359605978 |
545 | L>F | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs756584525 CA3251469 |
546 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1411283692 CA359605968 |
547 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs750729220 CA3251468 |
547 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs750729220 CA117761447 |
547 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs767893607 CA3251467 |
549 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1402836326 CA359605940 |
551 | T>I | No |
ClinGen gnomAD |
|
|
CA3251466 rs751753945 |
552 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA359605939 rs751753945 |
552 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs538773495 CA3251464 |
552 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3251465 rs751753945 |
552 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1579947503 CA359605931 |
553 | L>F | No |
ClinGen Ensembl |
|
|
CA3251463 rs763070426 |
554 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 554 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1440610672 CA359605919 |
555 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs961516442 CA117761431 |
555 | E>K | No |
ClinGen Ensembl |
|
|
CA359605902 rs1232513601 |
558 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs201687257 CA3251462 |
559 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201687257 CA3251461 |
559 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776517055 CA3251459 |
560 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs759556796 CA3251460 |
560 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA117761182 rs868755629 |
562 | G>E | No |
ClinGen Ensembl |
|
|
CA117761411 rs533282346 |
562 | G>R | No |
ClinGen Ensembl |
|
|
CA359605867 rs1343257872 |
563 | K>Q | No |
ClinGen gnomAD |
|
|
CA359605849 rs1414798455 |
565 | I>F | No |
ClinGen gnomAD |
|
|
rs1164312414 CA359605843 |
566 | S>G | No |
ClinGen gnomAD |
|
|
rs1474232368 CA359605834 |
567 | T>S | No |
ClinGen gnomAD |
|
|
rs534115678 CA117761173 |
567 | T>S | No |
ClinGen Ensembl |
|
|
CA117761154 rs777014967 |
568 | V>A | No |
ClinGen gnomAD |
|
|
rs747780004 CA3251433 |
568 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 569 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1049980053 CA117761151 |
570 | W>G | No |
ClinGen gnomAD |
|
|
rs1451889213 CA359605814 |
571 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs375041927 CA3251431 |
572 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3251429 rs781659189 |
573 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1319336854 CA359605797 |
573 | M>T | No |
ClinGen gnomAD |
|
|
CA359605068 rs1579945099 TCGA novel |
578 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA3251413 rs748796129 |
579 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 579 | K>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359605061 rs748796129 |
579 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA117760156 rs981045089 |
580 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 580 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA117760151 rs866767869 |
581 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs866767869 CA359605043 |
581 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs771367116 CA3251411 |
583 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA117760145 rs561770459 |
583 | W>C | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA3251412 rs774982427 |
583 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs184956949 CA3251410 |
586 | S>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3251409 rs375906292 |
588 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375906292 CA359604996 |
588 | V>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3251407 rs758658035 |
591 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3251406 rs371022714 |
592 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746346509 CA3251404 |
592 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs371022714 CA3251405 |
592 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3251401 rs756039988 |
594 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs558095990 CA3251400 |
596 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767542509 CA3251399 |
598 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359604925 rs1437508903 |
599 | K>N | No |
ClinGen TOPMed |
|
|
CA3251398 rs761503056 |
599 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs373516708 CA3251397 |
600 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359604902 rs1356128941 |
602 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs369551093 CA3251396 |
602 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1561298160 CA359604897 |
603 | G>D | No |
ClinGen Ensembl |
|
|
CA359604899 rs1307904381 |
603 | G>R | No |
ClinGen gnomAD |
|
|
rs762611351 CA3251395 |
604 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs374944474 CA3251394 |
607 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359604849 rs1217160400 |
610 | T>A | No |
ClinGen TOPMed |
|
|
rs769327133 CA359604846 |
610 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs769327133 CA3251393 |
610 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1416000045 CA359604830 |
612 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1181971014 CA359604380 |
613 | K>T | No |
ClinGen TOPMed |
|
|
CA117758072 rs945301019 |
614 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1267400073 CA359604357 |
615 | L>R | No |
ClinGen gnomAD |
|
|
rs1334206263 CA359604343 |
616 | W>* | No |
ClinGen gnomAD |
|
|
CA359604350 rs1478823663 |
616 | W>G | No |
ClinGen TOPMed |
|
|
CA3251373 rs752318583 |
616 | W>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_042989 CA117758067 rs17854768 |
617 | K>N | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA3251372 rs371442165 |
618 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359604313 rs1327516481 |
619 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3251371 rs758957972 |
621 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3251369 rs772393333 |
622 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA117758061 rs1053566994 |
622 | T>N | No |
ClinGen TOPMed |
|
| TCGA novel | 622 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA117758048 rs967059267 |
623 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA117758041 rs774816344 |
624 | A>E | No |
ClinGen ExAC |
|
|
CA3251367 rs774816344 |
624 | A>V | No |
ClinGen ExAC |
|
|
CA3251366 rs200631985 |
625 | C>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3251365 rs200631985 |
625 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359604249 rs200631985 |
625 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359604215 rs1434640339 |
627 | Q>R | No |
ClinGen gnomAD |
|
|
rs985604819 CA117758032 |
629 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs867317535 CA117758029 |
629 | S>L | No |
ClinGen Ensembl |
|
|
rs770117514 CA3251363 |
630 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs780407869 CA3251364 |
630 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1273356949 CA359604170 |
632 | V>I | No |
ClinGen TOPMed |
|
|
CA359604123 rs1271407956 |
635 | Q>* | No |
ClinGen gnomAD |
|
|
CA359604119 rs1271407956 |
635 | Q>E | No |
ClinGen gnomAD |
|
|
CA3251362 rs370962710 |
637 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3251361 rs781350538 |
638 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1225723939 CA359603981 |
643 | P>S | No |
ClinGen gnomAD |
|
|
COSM592482 CA117758023 rs370915050 |
644 | N>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA117758021 rs1007254835 |
648 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs16870720 CA3251359 VAR_042990 |
648 | D>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA359603847 rs1339780291 |
651 | Q>* | No |
ClinGen gnomAD |
|
|
CA3251343 rs746128186 |
652 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA359603517 rs1160471888 |
653 | I>L | No |
ClinGen gnomAD |
|
|
CA359603456 rs1486943621 |
658 | G>A | No |
ClinGen gnomAD |
|
|
CA359603435 rs1258764312 |
660 | C>R | No |
ClinGen gnomAD |
|
|
CA3251340 rs776536771 |
660 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359603429 rs1579939070 |
661 | A>T | No |
ClinGen Ensembl |
|
|
COSM1068286 rs747143802 CA3251338 |
662 | E>K | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1448731359 CA359603355 |
666 | D>N | No |
ClinGen Ensembl |
|
|
CA3251335 rs747871771 |
667 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3251336 rs372978038 |
667 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1277329139 CA359603338 |
667 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs778782525 CA3251334 |
668 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3251333 rs754546753 |
669 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA359603279 rs1362264280 |
672 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs753497670 CA3251332 |
674 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1030871074 CA117753974 |
679 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs370236617 CA3251330 |
681 | F>L | No |
ClinGen ESP TOPMed |
|
|
CA359603168 rs370236617 |
681 | F>V | No |
ClinGen ESP TOPMed |
|
|
rs967999269 COSM1068284 CA117753958 |
682 | F>S | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs751117880 CA3251329 |
683 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227835665 CA359603110 |
684 | N>D | No |
ClinGen TOPMed |
|
|
rs1285523538 CA359603105 |
684 | N>T | No |
ClinGen TOPMed |
|
|
CA3251328 rs377423987 |
685 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3251327 rs750019046 |
685 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3251325 rs763563582 |
686 | C>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763563582 CA3251326 |
686 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs775672902 CA3251324 |
686 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3251323 rs765668704 |
687 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA117753934 rs192122074 |
687 | K>R | No |
ClinGen 1000Genomes |
|
| TCGA novel | 687 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3251306 rs765716129 |
688 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1213808918 CA359602793 |
689 | L>F | No |
ClinGen gnomAD |
|
| rs1199010949 | 691 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 691 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375283951 CA3251305 |
692 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375283951 CA359602755 |
692 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1337253662 CA359602761 |
692 | G>R | No |
ClinGen gnomAD |
|
|
CA117753539 rs1056032831 |
694 | K>R | No |
ClinGen Ensembl |
|
|
CA359602704 rs766523465 |
695 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201250871 CA3251302 |
696 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201250871 CA3251301 |
696 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs151096065 CA3251300 |
697 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs151096065 CA117753512 |
697 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761846613 CA3251299 |
699 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA3251298 rs774331511 |
700 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1396565842 CA359602601 |
703 | V>D | No |
ClinGen TOPMed |
|
|
rs564532465 CA3251297 |
703 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359602577 rs577247575 |
705 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs577247575 CA3251295 |
705 | Y>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 706 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745543721 CA3251293 |
708 | V>A | No |
ClinGen ExAC |
|
|
CA3251292 rs781035669 |
709 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA3251290 rs376700959 |
710 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA117753449 rs899698469 |
711 | H>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 711 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3251289 rs751092208 |
711 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs202211129 CA3251288 |
712 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA117753447 rs202211129 |
712 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA117753432 rs867205374 |
713 | P>L | No |
ClinGen gnomAD |
|
|
rs755447092 CA3251287 |
713 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 714 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359602410 rs1298796038 |
718 | L>P | No |
ClinGen gnomAD |
|
|
CA3251286 rs754174141 |
720 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1353264889 CA359602368 |
721 | L>H | No |
ClinGen gnomAD |
|
|
CA359602343 rs766752694 |
723 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs766752694 CA3251285 |
723 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA117753398 rs1039282662 |
725 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3251284 rs761066792 |
725 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372870181 CA117753397 |
726 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767782797 CA3251282 |
726 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs372870181 CA3251283 |
726 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368234466 CA117753380 |
727 | S>T | No |
ClinGen ESP gnomAD |
|
|
rs1236813685 CA359602283 |
727 | S>Y | No |
ClinGen TOPMed |
|
|
CA3251281 rs202186507 |
728 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359602276 rs202186507 |
728 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA359602234 rs1176122871 |
731 | S>A | No |
ClinGen gnomAD |
|
|
rs774295942 CA3251280 |
731 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359602181 rs890523408 |
733 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3251278 rs762817182 |
733 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867376446 CA117753376 |
733 | H>Y | No |
ClinGen Ensembl |
|
|
rs1208340180 CA359602145 |
735 | Q>* | No |
ClinGen gnomAD |
|
|
rs775381330 CA3251277 |
735 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs745711330 CA3251275 |
736 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs769684602 CA3251276 |
736 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1443623968 CA359601084 |
739 | V>A | No |
ClinGen gnomAD |
|
|
CA359601090 rs1287881208 |
739 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs969293435 CA117751069 |
741 | G>D | No |
ClinGen gnomAD |
|
| TCGA novel | 741 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359601055 rs969293435 |
741 | G>V | No |
ClinGen gnomAD |
|
|
CA117751068 rs760125195 |
742 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1396091694 CA359601053 |
742 | M>V | No |
ClinGen gnomAD |
|
|
rs1460915458 CA359601023 |
743 | S>P | No |
ClinGen gnomAD |
|
|
rs1366576753 CA359601016 |
743 | S>Y | No |
ClinGen gnomAD |
|
|
CA117751066 rs956716491 |
745 | M>L | No |
ClinGen TOPMed |
|
|
rs1014284698 CA359600957 CA117751044 |
746 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1428852932 CA359600952 |
747 | K>* | No |
ClinGen gnomAD |
|
|
rs764428661 CA3251178 |
748 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 748 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs924613200 CA117750527 |
749 | M>I | No |
ClinGen Ensembl |
|
|
CA3251177 rs758543587 |
749 | M>R | No |
ClinGen ExAC |
|
|
CA117750532 rs956838473 |
749 | M>V | No |
ClinGen Ensembl |
|
|
CA359600687 rs1561291189 |
750 | D>E | No |
ClinGen Ensembl |
|
|
rs752893873 CA3251176 |
750 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201372772 CA3251173 |
753 | M>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA359600650 rs1330293674 |
753 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3251172 rs776521147 |
756 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3251171 rs564390256 |
756 | T>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1215938847 CA359600032 |
757 | R>K | No |
ClinGen TOPMed |
|
|
CA359600018 rs1271727205 |
759 | I>V | No |
ClinGen TOPMed |
|
|
rs760560028 CA3251170 COSM1437600 |
760 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA359600009 rs1174546363 |
760 | T>S | No |
ClinGen gnomAD |
|
|
CA359600005 rs1467705817 |
761 | E>A | No |
ClinGen TOPMed |
|
|
CA3251168 rs771824186 |
761 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1184077008 CA359599996 |
762 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs747589741 CA3251167 |
763 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA359599987 rs1203481555 |
764 | I>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 767 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3251165 rs545847127 |
768 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 768 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3251164 rs545800898 |
769 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA117750481 rs202014916 |
770 | E>D | No |
ClinGen 1000Genomes |
|
|
CA3251163 rs781740324 |
770 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1342429120 CA359599948 |
770 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs572144875 CA3251161 CA359599938 |
771 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs771173852 CA3251162 |
771 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1286333570 CA359599937 |
772 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1286333570 COSM1254063 CA359599936 |
772 | Q>K | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA3251159 rs758701988 |
774 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs758701988 CA359599923 |
774 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA3251158 rs752768754 |
775 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA359599907 rs1561291062 |
776 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA359599905 rs1400256524 |
776 | F>S | No |
ClinGen gnomAD |
|
|
rs754926383 CA3251156 |
777 | S>P | No |
ClinGen ExAC TOPMed |
|
|
rs200108200 CA359599893 |
778 | Y>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200108200 CA3251155 |
778 | Y>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1454332034 CA359599885 |
779 | K>R | No |
ClinGen gnomAD |
|
|
CA359599870 rs1188133836 |
781 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
VAR_042991 CA3251154 rs10067611 |
781 | M>V | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs760383132 CA3251153 |
782 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359599856 rs1291744458 |
783 | I>F | No |
ClinGen TOPMed |
|
|
CA359599842 rs1476465203 |
784 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 784 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA359599840 rs1476465203 |
784 | G>V | No |
ClinGen gnomAD |
|
| TCGA novel | 788 | D>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779318499 CA3251139 |
788 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1297375597 CA359599688 |
790 | I>T | No |
ClinGen gnomAD |
|
|
rs755087797 CA3251138 |
791 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs754015013 CA3251137 |
791 | R>K | No |
ClinGen ExAC |
|
|
CA3251135 rs550373894 |
792 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed |
|
| TCGA novel | 792 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs201138878 CA3251132 |
793 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761632624 CA3251131 |
793 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs201138878 CA3251133 |
793 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 794 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA117750364 rs776224208 |
795 | L>P | No |
ClinGen gnomAD |
|
|
rs202160588 CA3251129 |
796 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs751187629 CA3251130 |
796 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA359599592 rs1253826546 |
798 | L>S | No |
ClinGen TOPMed |
|
|
rs1318635356 CA359599579 |
799 | A>G | No |
ClinGen gnomAD |
|
|
CA359599532 rs369098509 |
803 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3251127 rs201107972 |
803 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369098509 CA3251128 |
803 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761267578 CA3251125 |
806 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA359599485 rs1168852560 |
806 | A>V | No |
ClinGen gnomAD |
|
|
CA359599450 rs775065423 |
809 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3251122 rs775065423 |
809 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 809 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA117750343 rs902426453 |
810 | I>T | No |
ClinGen Ensembl |
|
|
CA3251120 rs774710073 |
810 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758354585 CA3251119 |
811 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs1365332231 CA359599396 |
813 | L>I | No |
ClinGen TOPMed |
|
|
CA3251118 rs749268784 |
814 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 825 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1315165369 | 829 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs199943039 | 834 | R>Q | Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs368507319 | 834 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1172265179 | 838 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 839 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 847 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1208151398 | 848 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs938166082 | 853 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 855 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1487674803 | 861 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770970800 | 864 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs563729861 | 868 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs866059852 | 879 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 895 | M>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1035848918 | 902 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 903 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1435843855 | 905 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs369144504 | 913 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1388092226 | 917 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_042992 rs10054110 |
918 | N>K | No |
UniProt dbSNP |
|
| rs1254484939 | 920 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1350912407 | 921 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1448281063 | 934 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 936 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs758593902 | 945 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs368897376 | 947 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs199545321 | 949 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 957 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs984663453 | 960 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs896065939 | 978 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779911534 | 983 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1321259354 | 991 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 993 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 998 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs923155494 | 1005 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1211364496 | 1015 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs374924519 | 1017 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1422357319 | 1021 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1023 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750946657 | 1025 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1029 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1034 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs993601040 | 1052 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1426705368 | 1058 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1083 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1090 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1315469059 | 1093 | P>H | Variant assessed as Somatic; 4.648e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1427712030 | 1109 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1316385088 | 1112 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1331319311 | 1131 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752551224 | 1134 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1153 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1154 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1159 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1161 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1164 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1385323187 | 1165 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1171 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1433023228 | 1173 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_042993 rs2271704 |
1179 | L>P | No |
UniProt dbSNP |
|
| rs369303264 | 1187 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1204 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1208 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1216 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1227 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1243113662 | 1229 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs867764713 | 1249 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs976737031 | 1253 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1375603847 | 1269 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1272 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs781754961 | 1274 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs896692806 | 1279 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753717266 | 1283 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1289 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs761763209 | 1294 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1295 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1228647156 | 1302 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1312 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1433702767 | 1325 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs377394471 | 1333 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs757290164 | 1337 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs368816862 | 1341 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs377219425 | 1345 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1354 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1360 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1363726686 | 1363 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs756600463 | 1372 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs756600463 | 1372 | I>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753433063 | 1379 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774282086 | 1387 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1389 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1176262967 | 1397 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1432096728 | 1398 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs892395973 | 1406 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1412 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1425 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1433 | S>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs867528082 | 1436 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs867161694 | 1444 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1445 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs200154112 | 1447 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1447 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs367639574 | 1453 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1465 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1465 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs866826423 | 1474 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1489023115 | 1483 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs200676167 | 1490 | F>L | Variant assessed as Somatic; 0.0004643 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1495 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1509 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1509 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1537 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1542 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs376683021 | 1546 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs933563945 | 1556 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755657335 | 1566 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1567 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs764758889 | 1568 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1584 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs200932269 | 1585 | L>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q7Z745
No regional properties for Q7Z745
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q7Z745 | |||
Functions
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| acrosomal vesicle | A structure in the head of a spermatozoon that contains acid hydrolases, and is concerned with the breakdown of the outer membrane of the ovum during fertilization. It lies just beneath the plasma membrane and is derived from the lysosome. |
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| sperm flagellum | A microtubule-based flagellum (or cilium) that is part of a sperm, a mature male germ cell that develops from a spermatid. |
| sperm midpiece | The highly organized segment of the sperm flagellum which begins at the connecting piece and is characterized by the presence of 9 outer dense fibers (ODFs) that lie outside each of the 9 outer axonemal microtubule doublets and by a sheath of mitochondria that encloses the ODFs and the axoneme; the midpiece terminates about one-fourth of the way down the sperm flagellum at the annulus, which marks the beginning of the principal piece. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cell differentiation | The process in which relatively unspecialized cells, e.g. embryonic or regenerative cells, acquire specialized structural and/or functional features that characterize the cells, tissues, or organs of the mature organism or some other relatively stable phase of the organism's life history. Differentiation includes the processes involved in commitment of a cell to a specific fate and its subsequent development to the mature state. |
| protein kinase A signaling | A series of reactions, mediated by the intracellular serine/threonine kinase protein kinase A, which occurs as a result of a single trigger reaction or compound. |
| spermatogenesis | The developmental process by which male germ line stem cells self renew or give rise to successive cell types resulting in the development of a spermatozoa. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5TGP6 | MROH9 | Maestro heat-like repeat-containing protein family member 9 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MTLSTEESIE | MFGDINLTLG | MLNKEDIVNK | EDIYSHLTSV | IQNTDILDDA | IVQRLIYYAS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KDMRDNNMLR | EIRMLAGEVL | VSLAAHDFNS | VMYEVQSNFR | ILELPDEFVV | LALAELATSY |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VSQSIPFMMM | TLLTMQTMLR | LAEDERMKGT | FCIALEKFSK | AIYKYVNHWR | DFPYPRLDAN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RLSDKIFMLF | WYIMEKWAPL | ASPMQTLSIV | KAHGPTVSLL | LHREDFRGYA | LGQVPWLLNQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| YKDKEIDFHV | TQSLKQILTA | AVLYDIGLPR | SLRRSIFINL | LQQICRAPEP | PVKENEMKAS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SCFLILAHSN | PGELMEFFDE | QVRSNNEAIR | VGILTLLRLA | VNADEPRLRD | HIISIERTVK |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IVMGDLSTKV | RNSVLLLIQT | MCEKSYIEAR | EGWPLIDYVF | SQFATLNRNL | EKPVKTNFHE |
| 430 | 440 | 450 | 460 | 470 | 480 |
| NEKEEESVRE | TSLEVLKTLD | PLVIGMPQVL | WPRILTFVVP | AEYTEALEPL | FSIIRILIMA |
| 490 | 500 | 510 | 520 | 530 | 540 |
| EEKKQHSAKE | STALVVSTGA | VKLPSPQQLL | ARLLVISMPA | SLGELRGAGA | IGLLKILPEI |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IHPKLVDLWK | TRLPELLQPL | EGKNISTVLW | ETMLLQLLKE | SLWKISDVAW | TIQLTQDFKQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| QMGSYSNNST | EKKFLWKALG | TTLACCQDSD | FVNSQIKEFL | TAPNQLGDQR | QGITSILGYC |
| 670 | 680 | 690 | 700 | 710 | 720 |
| AENHLDIVLK | VLKTFQNQEK | FFMNRCKSLF | SGKKSLTKTD | VMVIYGAVAL | HAPKKQLLSR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| LNQDIISQVL | SLHGQCSQVL | GMSVMNKDMD | LQMSFTRSIT | EIGIAVQDAE | DQGFQFSYKE |
| 790 | 800 | 810 | 820 | 830 | 840 |
| MLIGYMLDFI | RDEPLDSLAS | PIRWKALIAI | RYLSKLKPQL | SLQDHLNILE | ENIRRLLPLP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| PLENLKSEGQ | TDKDKEHIQF | LYERSMDALG | KLLKTMMWDN | VNAEDCQEMF | NLLQMWLVSQ |
| 910 | 920 | 930 | 940 | 950 | 960 |
| KEWERERAFQ | ITAKVLTNDI | EAPENFKIGS | LLGLLAPHSC | DTLPTIRQAA | ASSTIGLFYI |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| KGIHLEVERL | QGLQEGLESD | DVQVQIKISS | KIAKIVSKFI | PNEEILMFLE | EMLDGLESLN |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| PTCTKACGIW | MITVLKQQGA | ALEDQLLEIL | GTIYHHMPVL | RQKEESFQFI | LEAISQIASF |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| HMDTVVVNLL | QKPLPFDRDT | KTLWKALAEK | PASSGKLLQA | LIDKLETELE | DDIARVEAIS |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| VACAMYEVIS | MGTSVTGLYP | ELFTLLLKLV | SCTLGQKMLT | CPWSHRRHVM | QQGEQQQIPD |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| PCRLSTATLK | CLQAQAMREG | LAKESDEGDN | LWTLLSSPST | HHIGVCSLAR | SMAVWQHGVI |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| LDIMEQLLSS | LTSSSENYRI | TGAAFFSELM | KEPILWKHGN | LRNVLILMDQ | SAWDSNATLR |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| QMAIRGLGNT | ASGAPHKVKK | HKQLMLESII | RGLYHLARTE | VVCESLKALK | KILELLTDRD |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| VSFYFKEIVL | QTRTFFEDEQ | DDVRLTAIFL | FEDLAPLTGR | RWKIFFAEEI | KKSLISFLLH |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| LWDPNPKIGV | ACRDVLMVCI | PFLGLQELYG | VLDRLLDQDL | PRARDFYRQF | CVKLAKKNQE |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| ILWILHTHSF | TFFTSTWEVI | RSAAVKLTDA | VVLNLTSQYV | ELLDREQLTT | RLQALRQDPC |
| 1570 | 1580 | ||||
| ISVQRAAEAA | LQTLLRRCKE | TSIPL |