Q7Z5M5
PR
Gene name |
TMC3 |
Protein name |
Transmembrane channel-like protein 3 |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:342125 |
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 Q7Z5M5
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7Z5M5-F1 | Predicted | AlphaFoldDB |
975 variants for Q7Z5M5
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA393250889 rs1596101572 |
3 | T>P | No |
ClinGen Ensembl |
|
|
CA7697076 rs768754428 |
4 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1268988792 CA393250876 |
5 | K>Q | No |
ClinGen gnomAD |
|
|
CA7697073 rs770387418 |
7 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7697071 rs781696055 |
9 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7697070 rs771366814 |
9 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7697072 rs781696055 |
9 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs575539588 CA7697067 |
12 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7697065 rs535123010 |
14 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs535123010 CA7697064 |
14 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs181224593 CA7697066 |
14 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs920951438 CA273366633 |
15 | R>T | No |
ClinGen TOPMed |
|
|
CA273366632 rs867082078 |
17 | A>V | No |
ClinGen Ensembl |
|
|
CA393250775 rs1362514816 |
21 | Y>H | No |
ClinGen gnomAD |
|
|
rs753659897 CA7697062 |
22 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs970455187 CA273366626 |
22 | L>R | No |
ClinGen Ensembl |
|
|
CA393250750 rs1242166462 |
24 | Q>H | No |
ClinGen TOPMed |
|
|
CA7697061 rs74028654 |
24 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1031551484 CA273366622 |
26 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1031551484 CA273366620 |
26 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA393250732 rs1429608822 |
28 | L>M | No |
ClinGen gnomAD |
|
|
CA7697060 rs755863438 |
30 | S>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 32 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393250647 rs1461648215 |
32 | L>V | No |
ClinGen gnomAD |
|
|
CA273365888 rs1057097151 |
34 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1237332001 CA393250617 |
36 | F>L | No |
ClinGen gnomAD |
|
|
CA393250600 rs1165147017 |
38 | A>T | No |
ClinGen gnomAD |
|
|
CA7697046 rs200148751 |
39 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1190453189 CA393250588 |
40 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7697043 rs199622639 |
43 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA273365871 rs570920886 |
44 | S>N | No |
ClinGen Ensembl |
|
|
rs201306245 CA7697042 |
44 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1286528384 CA393250543 |
46 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs756019108 CA7697041 |
47 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs76902501 CA7697039 |
49 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393250523 rs1437781795 |
49 | Q>R | No |
ClinGen TOPMed |
|
|
rs1567072111 CA393250488 |
54 | I>V | No |
ClinGen Ensembl |
|
|
CA393250478 rs1365933103 |
55 | Q>R | No |
ClinGen TOPMed |
|
|
CA7697038 rs758647682 |
56 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 57 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1355882393 CA393250457 |
58 | K>* | No |
ClinGen gnomAD |
|
|
CA273365851 rs759066791 |
60 | L>H | No |
ClinGen Ensembl |
|
|
CA7697036 rs374929614 |
61 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1309560411 CA393250420 |
63 | N>S | No |
ClinGen TOPMed |
|
|
rs765383955 CA7697035 |
64 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs759498485 CA7697034 |
65 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM247852 CA7697032 rs767043235 |
65 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7697033 rs767043235 |
65 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767329756 CA7697029 |
66 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs550530569 CA273365799 |
66 | C>* | No |
ClinGen 1000Genomes |
|
|
CA7697030 rs199681135 |
66 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA393250389 rs1293289831 |
68 | P>L | No |
ClinGen TOPMed |
|
|
rs530925458 CA7697028 |
69 | W>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA273365792 rs986225726 |
69 | W>R | No |
ClinGen Ensembl |
|
|
rs1221098083 CA393250380 |
70 | T>A | No |
ClinGen gnomAD |
|
|
rs1450008778 CA393250376 |
70 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1450008778 CA393250378 |
70 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1208267687 CA393250372 |
71 | M>T | No |
ClinGen Ensembl |
|
|
CA7697027 rs747858522 |
74 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs148073168 CA7697025 |
77 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1317964119 CA393282205 |
81 | A>T | No |
ClinGen gnomAD |
|
|
CA7697006 rs140022845 |
81 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs769232905 CA7697003 |
84 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7697002 rs200057903 |
84 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7697004 rs769232905 |
84 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1047643551 CA393282139 CA273406060 |
85 | V>L | No |
ClinGen Ensembl |
|
|
CA393282116 rs1325632708 |
86 | L>P | No |
ClinGen gnomAD |
|
|
rs371407965 CA393282123 |
86 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7696999 rs746832271 |
88 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA7696996 rs754048655 |
94 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393281997 rs1365155063 |
94 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1431775250 CA393281986 |
95 | T>N | No |
ClinGen gnomAD |
|
| TCGA novel | 95 | T>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1477568548 CA393281971 |
96 | R>* | No |
ClinGen gnomAD |
|
|
rs199688186 CA7696995 |
96 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7696994 rs756221735 |
97 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1255793069 CA393281870 |
102 | G>D | No |
ClinGen gnomAD |
|
|
rs1409182788 CA393281846 |
103 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| rs560112819 | 104 | E>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 105 | L>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300081786 CA393280402 |
105 | L>F | No |
ClinGen gnomAD |
|
|
COSM701622 rs200101447 CA7696968 |
107 | R>Q | lung Variant assessed as Somatic; 9.342e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373336383 CA7696969 |
107 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM258191 rs1386273323 CA393280273 |
109 | F>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs759217680 CA7696967 |
109 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1335618164 CA393280260 |
110 | A>V | No |
ClinGen TOPMed |
|
|
rs76735592 CA7696966 |
111 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393280247 rs1248041441 |
111 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA393280239 rs1248041441 |
111 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7696964 rs78124976 |
113 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs78124976 COSM1157801 CA7696963 |
113 | A>T | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1264276732 CA393280199 |
114 | C>R | No |
ClinGen gnomAD |
|
|
rs1219293480 CA393280183 |
114 | C>W | No |
ClinGen gnomAD |
|
|
rs772102444 CA7696962 |
116 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs772102444 CA393280146 |
116 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA393280163 rs1361440090 |
116 | F>V | No |
ClinGen gnomAD |
|
|
rs772102444 CA393280147 |
116 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1257572372 CA393280127 |
117 | V>A | No |
ClinGen TOPMed |
|
|
rs1002239385 CA273401283 |
118 | V>F | No |
ClinGen Ensembl |
|
|
rs533578038 CA7696961 |
119 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1309494428 CA393280067 |
121 | I>V | No |
ClinGen gnomAD |
|
|
rs774274664 CA393280041 |
122 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA7696960 rs774274664 |
122 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7696958 rs746031489 |
125 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs778795016 CA7696959 |
125 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs778795016 CA273401266 |
125 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs752546156 CA273401272 |
125 | M>V | No |
ClinGen Ensembl |
|
|
rs1366782796 CA393279969 |
126 | R>K | No |
ClinGen gnomAD |
|
|
rs1596093505 CA393279952 |
127 | I>K | No |
ClinGen Ensembl |
|
|
rs1024908883 CA273401240 |
127 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1009609551 CA273401209 |
131 | E>K | No |
ClinGen gnomAD |
|
|
CA393279899 rs1567068905 |
131 | E>V | No |
ClinGen Ensembl |
|
|
CA393279895 rs1419239073 |
132 | S>G | No |
ClinGen gnomAD |
|
|
rs1470719729 CA393279597 |
132 | S>N | No |
ClinGen gnomAD |
|
|
rs776869484 CA7696940 |
135 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA393279571 rs1474123922 |
136 | S>P | No |
ClinGen gnomAD |
|
|
CA393279558 rs201479309 |
138 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7696937 rs201479309 |
138 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA393279543 rs1240971374 |
140 | S>F | No |
ClinGen gnomAD |
|
|
CA393279522 rs1327033846 |
143 | I>T | No |
ClinGen TOPMed |
|
|
rs1257534440 CA393279525 |
143 | I>V | No |
ClinGen gnomAD |
|
|
rs1271343598 CA393279505 |
145 | L>F | No |
ClinGen gnomAD |
|
|
CA393279501 rs1244692010 |
146 | R>T | No |
ClinGen gnomAD |
|
|
rs748587704 CA7696934 |
147 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7696935 rs772637820 |
147 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs200729546 CA7696932 CA273398948 |
148 | L>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 151 | I>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393279464 rs1330241879 |
152 | N>Y | No |
ClinGen gnomAD |
|
|
CA7696930 rs779803149 |
154 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs147883999 CA7696928 |
155 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147883999 CA7696929 |
155 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766720728 CA273398911 |
156 | T>I | No |
ClinGen Ensembl |
|
|
CA7696927 rs185309297 |
157 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393279434 rs185309297 |
157 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763823495 CA7696924 |
158 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7696925 rs559520083 |
158 | M>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7696926 rs559520083 |
158 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7696923 rs367796926 |
160 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs985339916 CA393279394 |
163 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7696920 rs760886769 |
163 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696921 rs771245755 |
163 | I>V | No |
ClinGen ExAC TOPMed |
|
|
rs912235349 CA273398860 |
165 | I>T | No |
ClinGen TOPMed |
|
|
CA393279386 rs1273717822 |
165 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA393279380 rs1209793447 |
166 | P>A | No |
ClinGen gnomAD |
|
|
rs1357875034 CA393279376 |
166 | P>L | No |
ClinGen gnomAD |
|
|
rs1343078956 CA393279329 |
172 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA7696901 rs772172489 |
172 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs761923095 CA7696900 |
173 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs761923095 CA393279324 |
173 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1156606667 CA393279291 |
178 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA393279281 rs1567067705 |
179 | R>S | No |
ClinGen Ensembl |
|
|
rs370626878 CA7696899 |
179 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1337831461 CA393279271 |
181 | T>P | No |
ClinGen TOPMed |
|
|
CA7696897 rs749686836 |
182 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696898 rs565461129 |
182 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs114472322 CA7696896 |
183 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs932285394 CA273398247 |
184 | K>N | No |
ClinGen gnomAD |
|
|
CA7696895 rs770004085 |
187 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs200653005 CA273398232 |
188 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs756945471 CA393279207 |
191 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs756945471 CA7696892 |
191 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA7696890 rs777144354 |
193 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393279190 rs1220451231 |
194 | D>H | No |
ClinGen TOPMed |
|
|
rs1252948293 CA393279188 |
194 | D>V | No |
ClinGen TOPMed |
|
|
rs200945164 CA7696889 |
195 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696887 rs7497202 VAR_066557 |
196 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs7497202 CA273398203 |
196 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs952778058 CA273398194 |
197 | W>C | No |
ClinGen gnomAD |
|
|
rs1596090998 CA393279164 |
198 | S>A | No |
ClinGen Ensembl |
|
|
CA7696886 rs754730435 |
198 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs753601561 CA393279156 CA7696885 |
200 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393279086 rs1474864491 |
207 | V>I | No |
ClinGen TOPMed |
|
|
rs778759327 CA393279068 |
208 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA7696864 rs778759327 |
208 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA393279060 rs1165813480 |
209 | F>I | No |
ClinGen TOPMed |
|
|
CA7696862 rs201198651 |
211 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 213 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766093137 CA7696861 |
213 | Y>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757479549 CA7696860 |
213 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs766093137 CA393278997 |
213 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs56715910 CA393278976 |
214 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs56715910 CA7696858 |
214 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs78852152 CA7696857 |
216 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7696856 rs775615494 |
217 | R>G | No |
ClinGen ExAC |
|
|
rs529759962 CA7696854 CA393278917 |
220 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7696853 rs777140775 |
221 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA393278911 rs771364855 |
221 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760398545 CA7696851 |
221 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771364855 CA7696852 |
221 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696849 rs201212145 |
225 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772703677 CA7696850 |
225 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778387165 CA7696847 |
229 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA273397969 rs1032776403 |
229 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA7696845 rs779842685 CA7696844 |
233 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs886860174 CA273397923 |
234 | G>E | No |
ClinGen gnomAD |
|
|
CA7696843 rs540777088 |
234 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs758631166 CA7696840 |
239 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA393278600 rs1392093299 |
243 | I>T | No |
ClinGen gnomAD |
|
|
rs765341845 CA7696838 |
243 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7696837 rs760133687 |
244 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 245 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393278536 rs1480598214 |
246 | L>S | No |
ClinGen TOPMed |
|
|
rs754348760 CA7696836 |
248 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1262114181 CA393278122 |
248 | K>N | No |
ClinGen TOPMed |
|
|
CA393278105 rs1387584552 |
249 | M>I | No |
ClinGen gnomAD |
|
|
CA393278110 rs1380938229 |
249 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1290268573 CA393278090 |
250 | A>V | No |
ClinGen gnomAD |
|
|
rs745706525 CA7696825 |
251 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393278058 rs1428013582 |
252 | N>K | No |
ClinGen gnomAD |
|
|
rs139922591 CA7696824 |
254 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs771897153 CA7696823 |
254 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7696822 rs566947597 |
255 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1461009795 CA393277988 |
258 | A>G | No |
ClinGen gnomAD |
|
|
CA273397076 rs752187092 |
258 | A>T | No |
ClinGen gnomAD |
|
|
rs1261467881 CA393277969 |
260 | A>T | No |
ClinGen gnomAD |
|
|
CA393277961 rs1163896188 |
260 | A>V | No |
ClinGen gnomAD |
|
|
CA7696820 rs200687084 |
262 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393277942 rs1419886020 |
262 | N>Y | No |
ClinGen TOPMed |
|
|
rs1345797558 CA393277908 |
264 | N>I | No |
ClinGen gnomAD |
|
|
CA7696819 rs553319681 |
264 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393277894 rs1183823846 |
265 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA393277897 rs1398538557 |
265 | Y>C | No |
ClinGen TOPMed |
|
|
CA393277903 rs1270191546 |
265 | Y>H | No |
ClinGen gnomAD |
|
|
CA7696818 rs767045219 |
266 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7696817 rs756633157 |
268 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146506274 COSM965641 CA7696815 |
270 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA7696816 rs368659627 |
270 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1404950065 CA393277857 |
271 | V>A | No |
ClinGen gnomAD |
|
|
CA393277856 rs1404950065 |
271 | V>G | No |
ClinGen gnomAD |
|
|
CA393277816 rs1470703419 |
274 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 274 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286765283 CA393277798 |
275 | W>* | No |
ClinGen Ensembl |
|
|
CA393277793 rs1355948060 |
276 | D>N | No |
ClinGen TOPMed |
|
|
CA393277771 rs1596089734 |
277 | Y>S | No |
ClinGen Ensembl |
|
|
rs773949177 CA7696813 |
279 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA7696812 rs763705223 |
280 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 280 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1596089719 CA393277719 |
281 | N>T | No |
ClinGen Ensembl |
|
|
rs1474358664 CA393277720 |
281 | N>Y | No |
ClinGen gnomAD |
|
|
CA393277689 rs1374617803 |
284 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 285 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393277654 rs570963801 |
286 | E>D | No |
ClinGen 1000Genomes gnomAD |
|
|
rs979517904 CA273397039 |
287 | S>I | No |
ClinGen TOPMed |
|
|
CA273397037 rs202194221 |
287 | S>R | No |
ClinGen Ensembl |
|
|
CA393277623 rs1241600187 |
288 | K>R | No |
ClinGen gnomAD |
|
|
rs968123989 CA273397031 |
289 | T>K | No |
ClinGen TOPMed |
|
|
rs1223460524 CA393277592 |
291 | A>T | No |
ClinGen TOPMed |
|
|
rs1443075964 CA393277571 |
292 | I>M | No |
ClinGen gnomAD |
|
|
rs1205797524 CA393277575 |
292 | I>T | No |
ClinGen gnomAD |
|
|
rs1272303202 CA393277540 |
295 | S>C | No |
ClinGen gnomAD |
|
|
CA7696811 rs762497910 |
295 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1275932756 CA393277527 |
296 | I>N | No |
ClinGen gnomAD |
|
|
rs865974434 CA273397026 |
297 | R>M | No |
ClinGen Ensembl |
|
|
rs376913357 CA7696795 |
298 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 299 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393277421 rs1219448359 |
300 | I>T | No |
ClinGen Ensembl |
|
|
CA7696791 rs774984574 |
308 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA393277286 rs1352059702 |
309 | S>C | No |
ClinGen Ensembl |
|
|
rs144461394 CA7696789 |
310 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759416434 CA7696788 |
312 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA393276657 rs1213245571 |
313 | A>G | No |
ClinGen gnomAD |
|
|
CA393276670 rs1240669522 |
313 | A>T | No |
ClinGen gnomAD |
|
|
rs1465945700 CA393276630 |
315 | T>I | No |
ClinGen gnomAD |
|
|
CA393276623 rs1202542823 |
316 | I>N | No |
ClinGen gnomAD |
|
|
rs377410047 CA7696773 |
316 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393276597 rs1312655726 |
319 | R>G | No |
ClinGen TOPMed |
|
|
CA393276579 COSM3361552 rs1346925051 |
320 | I>T | kidney [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA7696772 rs758062227 |
321 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1219668545 CA393276544 |
322 | A>T | No |
ClinGen gnomAD |
|
|
rs752348676 CA7696771 |
324 | I>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 325 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393276489 rs1436966890 |
325 | L>P | No |
ClinGen gnomAD |
|
|
CA273394444 rs377245834 |
328 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 328 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1389722203 CA393276446 |
328 | L>P | No |
ClinGen gnomAD |
|
|
CA393276435 rs1463272492 |
329 | S>P | No |
ClinGen TOPMed |
|
|
CA7696767 rs766486354 |
333 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs376427934 CA393276364 |
333 | S>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393276359 rs1428394398 |
333 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7696766 rs376427934 |
333 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393276351 rs1434168913 |
334 | I>F | No |
ClinGen TOPMed |
|
|
CA7696765 rs773148204 |
335 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393276340 rs773148204 |
335 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771941146 CA7696764 |
337 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs775817538 CA7696762 |
338 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7696758 rs771430628 |
341 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393276238 rs1306887484 |
341 | V>M | No |
ClinGen gnomAD |
|
|
CA393276209 rs1596086918 |
342 | D>E | No |
ClinGen Ensembl |
|
|
rs778133695 CA7696756 |
343 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747455717 CA7696757 |
343 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 345 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393276139 rs1228403149 |
347 | L>Q | No |
ClinGen TOPMed |
|
|
rs778676392 CA7696754 |
348 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778676392 CA7696753 |
348 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 349 | Q>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7696752 rs753458907 |
350 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753458907 CA7696751 COSM965639 |
350 | S>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 351 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1171021634 CA393276005 |
352 | K>T | No |
ClinGen gnomAD |
|
|
CA273394352 rs867902848 |
353 | E>K | No |
ClinGen Ensembl |
|
|
rs1162552493 CA393275907 |
356 | L>I | No |
ClinGen gnomAD |
|
|
CA7696749 rs760708289 |
358 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7696748 rs750344089 |
361 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393275452 rs1266330347 |
362 | V>D | No |
ClinGen gnomAD |
|
|
rs1489334530 CA393275459 |
362 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 363 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1238520298 CA393275438 |
363 | S>R | No |
ClinGen gnomAD |
|
|
rs913111209 CA273392871 |
365 | V>A | No |
ClinGen Ensembl |
|
|
rs1315212977 CA393275389 |
367 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs541290506 CA7696734 |
368 | L>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1388954227 CA393275368 |
369 | V>A | No |
ClinGen gnomAD |
|
|
CA7696732 rs201086080 |
369 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs76083444 CA7696731 |
370 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755723456 CA7696730 |
371 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1328962119 CA393275343 |
372 | I>V | No |
ClinGen gnomAD |
|
|
rs61740148 CA7696729 |
374 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 377 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA273392821 rs541158729 |
378 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393275284 rs1160801895 |
378 | D>N | No |
ClinGen gnomAD |
|
| TCGA novel | 379 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751373992 CA7696726 |
380 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757137765 CA7696727 |
380 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393275263 rs1428586324 |
380 | I>V | No |
ClinGen gnomAD |
|
|
rs372930177 COSM3956976 CA7696725 |
382 | A>D | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
| TCGA novel | 384 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs923366430 CA273392801 |
385 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA273392805 rs760241635 |
385 | M>R | No |
ClinGen Ensembl |
|
|
CA7696724 rs759824566 |
386 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA273392797 rs935934891 |
387 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 388 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7696723 rs776795688 |
388 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696722 rs368228873 |
389 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7696720 rs371529017 |
391 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7696718 rs184834472 |
393 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7696717 rs143697026 |
393 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA393275134 rs184834472 |
393 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7696716 rs367817246 |
394 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA393275081 rs1322124428 |
398 | R>M | No |
ClinGen gnomAD |
|
| TCGA novel | 400 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1402896561 CA393274337 |
401 | V>E | No |
ClinGen gnomAD |
|
|
rs1397237828 CA393274342 |
401 | V>M | No |
ClinGen gnomAD |
|
|
rs763981929 CA393274330 |
402 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1314797064 CA393274318 |
403 | Y>C | No |
ClinGen TOPMed |
|
|
CA7696706 rs758169709 |
404 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7696705 rs377518960 |
405 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7696704 rs766646323 |
406 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696703 rs760886647 |
409 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA273390789 rs998323365 |
411 | I>T | No |
ClinGen Ensembl |
|
|
rs961504108 CA393274216 |
413 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs961504108 CA273390787 |
413 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1189762686 CA393274204 |
415 | L>M | No |
ClinGen gnomAD |
|
|
CA393274197 rs1567063880 |
415 | L>R | No |
ClinGen Ensembl |
|
|
rs1250528346 CA393274150 |
419 | N>K | No |
ClinGen gnomAD |
|
|
CA393274136 rs1363733570 |
421 | M>K | No |
ClinGen TOPMed |
|
|
rs1462176538 CA393274137 |
421 | M>L | No |
ClinGen gnomAD |
|
|
CA393274129 rs1234488419 |
422 | S>G | No |
ClinGen Ensembl |
|
|
CA7696701 rs555461104 |
423 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs780520487 CA7696700 |
424 | E>D | No |
ClinGen ExAC gnomAD |
|
|
COSM1374939 rs543319849 CA273389890 |
425 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD |
|
rs778615750 CA7696679 |
427 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA273389889 rs368433790 |
428 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 430 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199240973 CA393273858 |
435 | W>C | No |
ClinGen gnomAD |
|
|
rs1413429805 CA393273871 |
435 | W>R | No |
ClinGen gnomAD |
|
|
CA7696677 rs750598872 |
436 | I>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750598872 CA393273847 |
436 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs931410301 CA273389886 |
436 | I>V | No |
ClinGen gnomAD |
|
|
rs767671017 CA7696676 |
437 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393273836 rs1223352147 |
437 | D>Y | No |
ClinGen gnomAD |
|
|
rs1421751224 CA393273796 |
439 | T>S | No |
ClinGen gnomAD |
|
|
CA393273774 rs1285194179 |
440 | T>N | No |
ClinGen TOPMed |
|
| TCGA novel | 441 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393273768 rs1356251613 |
441 | F>V | No |
ClinGen TOPMed |
|
|
CA393273693 rs1014261571 |
444 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA273389868 rs1014261571 |
444 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs916085268 CA273389859 |
446 | T>I | No |
ClinGen Ensembl |
|
|
rs1330601538 CA393273641 |
447 | A>D | No |
ClinGen gnomAD |
|
|
CA7696673 rs138136007 |
448 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA273389853 rs267604344 |
448 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA393273616 rs1436893515 |
449 | E>K | No |
ClinGen gnomAD |
|
|
CA7696671 rs776008765 |
450 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA273389831 rs1037860932 |
452 | K>E | No |
ClinGen TOPMed |
|
|
CA393273527 rs1318772013 |
453 | W>* | No |
ClinGen gnomAD |
|
|
CA393273531 rs1318772013 |
453 | W>L | No |
ClinGen gnomAD |
|
|
rs1458889613 CA393273475 |
456 | S>T | No |
ClinGen gnomAD |
|
|
rs374367495 CA393273453 |
457 | R>L | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs374367495 CA7696669 |
457 | R>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs770234453 CA7696670 |
457 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1413223433 CA393273437 |
458 | P>S | No |
ClinGen gnomAD |
|
|
CA7696667 rs553408779 |
459 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs370988614 CA7696668 |
459 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393273383 rs1475282398 |
460 | M>I | No |
ClinGen gnomAD |
|
|
rs1419526408 CA393273406 |
460 | M>V | No |
ClinGen TOPMed |
|
|
rs966789554 CA273389814 |
461 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA393273310 rs1465874763 |
465 | N>K | No |
ClinGen gnomAD |
|
|
rs1333165957 CA393273282 |
467 | T>S | No |
ClinGen Ensembl |
|
|
CA393273251 rs1305746860 |
469 | A>T | No |
ClinGen TOPMed |
|
|
rs777335043 CA7696665 |
470 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs778706032 CA7696662 |
471 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696663 rs778706032 |
471 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368895625 CA7696661 |
472 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA273389802 rs985579203 |
473 | T>A | No |
ClinGen TOPMed |
|
|
rs199835792 CA7696660 |
473 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1295694100 CA393273142 |
475 | I>M | No |
ClinGen gnomAD |
|
|
CA393273144 rs1243166902 |
475 | I>T | No |
ClinGen TOPMed |
|
|
rs781323160 CA7696659 |
477 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA273389787 rs922257537 |
478 | Y>H | No |
ClinGen TOPMed |
|
|
CA7696658 rs757494999 |
484 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1445879610 CA393273042 |
485 | A>T | No |
ClinGen gnomAD |
|
|
CA7696656 rs77308390 |
486 | N>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7696655 rs763575401 |
488 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1272625283 CA393272997 |
488 | T>I | No |
ClinGen TOPMed |
|
|
CA393273006 rs763575401 |
488 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393272983 COSM701625 rs1486775230 |
489 | S>R | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1201305170 CA393272978 |
490 | L>F | No |
ClinGen TOPMed |
|
|
rs1429519957 CA393272941 |
493 | Q>R | No |
ClinGen gnomAD |
|
|
CA273389779 rs564686461 |
494 | S>N | No |
ClinGen Ensembl |
|
|
CA393272911 rs1388646459 |
496 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA393272907 rs1338308552 |
496 | Q>P | No |
ClinGen gnomAD |
|
|
CA393272883 rs1295012086 |
498 | Q>R | No |
ClinGen gnomAD |
|
|
CA7696653 rs765807142 |
500 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA393272859 rs1195194504 |
500 | W>* | No |
ClinGen TOPMed |
|
|
CA393272862 rs1450904192 |
500 | W>R | No |
ClinGen gnomAD |
|
|
rs956136370 CA273389771 |
502 | T>S | No |
ClinGen TOPMed |
|
|
CA393272819 rs200293124 |
503 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs996652178 COSM1493495 CA273389762 |
504 | V>I | kidney Variant assessed as Somatic; 0.0 impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA393272802 rs1171643201 |
505 | G>V | No |
ClinGen TOPMed |
|
|
rs760269145 CA7696632 |
509 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7696630 rs767128735 |
513 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696629 rs373568616 |
514 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752200467 CA7696627 |
516 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273389217 rs920921572 |
517 | L>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 519 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769589230 CA7696624 |
519 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA7696621 COSM3932176 rs758681614 |
520 | V>M | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7696620 COSM701626 rs199928703 |
521 | A>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1489614031 CA393272575 |
522 | S>N | No |
ClinGen gnomAD |
|
|
CA393272572 rs1274021747 |
522 | S>R | No |
ClinGen gnomAD |
|
|
rs912421835 CA273389161 |
523 | I>S | No |
ClinGen Ensembl |
|
|
rs948622880 CA273389130 |
526 | I>T | No |
ClinGen TOPMed |
|
|
rs1327157560 CA393272540 |
526 | I>V | No |
ClinGen gnomAD |
|
|
rs915775744 CA273389127 |
527 | D>E | No |
ClinGen TOPMed |
|
|
CA393272523 rs1270583374 |
527 | D>G | No |
ClinGen gnomAD |
|
|
CA7696618 rs755455324 |
528 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7696617 rs375168119 |
530 | R>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393272488 rs371581223 |
530 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM965627 rs371581223 CA7696616 |
530 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1388865491 CA393272479 |
531 | G>V | No |
ClinGen gnomAD |
|
|
CA393272466 rs1456251000 |
533 | F>L | No |
ClinGen gnomAD |
|
|
CA393272462 rs1385729284 |
533 | F>S | No |
ClinGen gnomAD |
|
|
rs750734417 CA7696614 |
534 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1267955 CA7696612 rs369492533 |
535 | R>Q | oesophagus Variant assessed as Somatic; 4.662e-05 impact. prostate [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1229458 rs200703748 CA7696613 |
535 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1188094215 CA393272407 |
538 | S>R | No |
ClinGen gnomAD |
|
|
CA7696609 rs762827521 |
540 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA7696610 rs763544403 |
540 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393272395 rs762827521 |
540 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs1344982621 CA393272388 |
541 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1254753848 CA393272384 |
541 | W>C | No |
ClinGen gnomAD |
|
|
rs775537557 CA7696608 |
541 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs769596031 CA7696607 |
542 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1348960582 CA393272370 |
543 | W>* | No |
ClinGen gnomAD |
|
|
rs1425550615 CA393272367 |
543 | W>C | No |
ClinGen gnomAD |
|
|
CA273389018 rs963412028 |
544 | D>E | No |
ClinGen TOPMed |
|
|
CA393272365 rs1303705836 |
544 | D>N | No |
ClinGen gnomAD |
|
|
rs1362445783 CA393272350 |
546 | E>* | No |
ClinGen gnomAD |
|
|
CA393272346 CA393272344 rs7161991 |
546 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7696605 rs776563996 |
547 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM285767 rs1181175485 CA393272315 |
549 | F>V | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA7696587 rs759326407 |
551 | E>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776582527 CA7696586 |
552 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1475845013 CA393272247 |
552 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
CA393272236 rs1298789084 |
553 | G>R | No |
ClinGen Ensembl |
|
| TCGA novel | 554 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 554 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7696585 rs375243233 |
555 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762159724 CA7696584 |
556 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs768741434 CA7696582 |
561 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA273388660 rs762789667 |
564 | L>V | No |
ClinGen Ensembl |
|
|
rs1355069451 CA393272098 |
565 | V>F | No |
ClinGen gnomAD |
|
|
CA7696581 rs749446942 |
566 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393272085 rs1281885764 |
566 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs759792425 CA7696580 |
568 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200789267 CA7696579 |
569 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1459251681 CA393271932 |
572 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs777170141 CA7696560 |
574 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1172416010 CA393271904 |
575 | A>T | No |
ClinGen gnomAD |
|
|
CA7696559 rs771414128 |
576 | F>L | No |
ClinGen ExAC gnomAD |
|
| rs1384203071 | 580 | C>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393271847 rs369680336 |
583 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7696557 rs369680336 |
583 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7696554 rs778518762 |
585 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696552 rs201261080 |
586 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1318178136 CA393271802 |
587 | L>P | No |
ClinGen gnomAD |
|
|
CA273387299 rs375844147 |
590 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696551 rs375844147 |
590 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696549 rs750242425 |
592 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393271751 rs1364589693 |
592 | L>R | No |
ClinGen gnomAD |
|
|
CA393271742 rs571509993 |
593 | M>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7696548 rs571509993 |
593 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393271713 rs1346374914 |
594 | Y>* | No |
ClinGen gnomAD |
|
|
CA393271720 rs1596081241 |
594 | Y>S | No |
ClinGen Ensembl |
|
|
CA7696547 rs763264402 |
597 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393271676 rs1397218015 |
598 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
rs775611888 CA7696546 |
602 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs775611888 CA393271647 |
602 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs368789364 CA273387274 |
603 | C>R | No |
ClinGen ESP TOPMed |
|
|
rs369044385 CA273387267 |
604 | N>D | No |
ClinGen Ensembl |
|
|
rs759668741 CA7696544 |
604 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs977897279 CA273387211 |
605 | V>L | No |
ClinGen TOPMed |
|
| TCGA novel | 607 | H>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209266491 CA393271570 |
608 | Q>R | No |
ClinGen gnomAD |
|
|
rs1422105525 CA393271553 |
609 | Q>H | No |
ClinGen TOPMed |
|
|
CA393271541 rs1471246593 |
610 | V>I | No |
ClinGen TOPMed |
|
|
rs1440512149 CA393271532 |
611 | F>I | No |
ClinGen gnomAD |
|
|
CA7696542 rs200423360 |
612 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
rs1282151619 CA393271497 |
612 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA393271498 rs1282151619 |
612 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA393271485 rs1234715054 |
613 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1276140017 CA393271465 |
614 | S>* | No |
ClinGen TOPMed |
|
|
rs1429756577 CA393271477 |
614 | S>T | No |
ClinGen TOPMed |
|
|
rs773650293 CA7696539 |
615 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA273385560 rs891119313 |
616 | S>F | No |
ClinGen TOPMed |
|
|
CA393270692 rs1226656409 |
617 | N>S | No |
ClinGen gnomAD |
|
|
rs1357976256 CA393270687 |
618 | N>D | No |
ClinGen gnomAD |
|
|
rs757049927 CA7696528 |
618 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696529 rs750284157 |
618 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs368497735 CA273385479 |
620 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7696526 rs751355324 |
620 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1463167521 CA393270661 |
622 | A>T | No |
ClinGen gnomAD |
|
|
CA393270647 rs1354725767 |
623 | M>I | No |
ClinGen gnomAD |
|
|
CA7696525 rs765510094 |
625 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1330911327 CA393270629 |
626 | F>L | No |
ClinGen TOPMed |
|
|
rs1188494001 CA393270613 |
629 | F>L | No |
ClinGen gnomAD |
|
|
rs759688679 CA7696524 |
631 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA393270590 rs1049048307 |
632 | M>R | No |
ClinGen TOPMed |
|
|
CA273385463 rs1049048307 |
632 | M>T | No |
ClinGen TOPMed |
|
|
CA7696522 rs753927656 |
633 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370452892 CA7696519 |
635 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 638 | A>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393270551 rs1336955598 |
638 | A>V | No |
ClinGen gnomAD |
|
|
COSM126975 CA7696518 rs116898002 |
641 | R>* | upper_aerodigestive_tract Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA393270535 rs561780947 |
641 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7696517 rs561780947 |
641 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768431728 CA7696514 |
648 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1404759766 CA393270253 |
653 | G>E | No |
ClinGen TOPMed |
|
|
CA7696495 rs775307468 |
653 | G>R | No |
ClinGen ExAC |
|
|
CA393270247 rs1454135092 |
654 | Q>P | No |
ClinGen gnomAD |
|
| TCGA novel | 655 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1376807483 CA393270241 |
655 | E>K | No |
ClinGen gnomAD |
|
|
CA393270199 rs1010202862 |
658 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs769431758 CA7696494 |
658 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs746814480 CA273384687 |
660 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA393270179 rs1455780713 |
660 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1395900914 CA393270168 |
661 | V>E | No |
ClinGen gnomAD |
|
|
CA393270140 rs745375862 |
664 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696493 rs745375862 |
664 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696491 rs373243884 |
665 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs746943365 CA7696490 |
666 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs777584430 CA7696489 |
667 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393270084 rs1483446429 |
669 | F>V | No |
ClinGen TOPMed |
|
|
CA273384654 rs868533491 |
670 | P>S | No |
ClinGen Ensembl |
|
|
CA393270029 rs1349673353 |
672 | W>* | No |
ClinGen gnomAD |
|
|
rs752439137 CA7696487 |
674 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756289814 CA7696485 |
676 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7696484 rs771936246 |
677 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767617875 CA7696483 |
680 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA7696481 rs752147362 |
682 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA7696478 rs373147707 |
684 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7696479 rs373147707 |
684 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7696477 rs764866032 |
688 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7696476 rs376707241 |
689 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372451698 CA7696475 |
690 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393269791 rs372451698 |
690 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs765613466 CA7696458 |
694 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7696456 rs776377055 |
695 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 695 | M>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs557709814 CA7696457 |
695 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765898026 CA7696455 |
696 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA7696453 rs759090667 |
704 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759090667 CA7696454 |
704 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA393269485 rs536477892 |
705 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696449 rs536477892 |
705 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7696450 rs191284515 |
705 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7696448 rs186643798 |
706 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393269442 rs1214529428 |
709 | L>F | No |
ClinGen TOPMed |
|
|
CA393269434 rs1337824597 |
710 | S>G | No |
ClinGen gnomAD |
|
|
rs1329710491 CA393269422 |
710 | S>R | No |
ClinGen gnomAD |
|
|
CA7696447 rs781493763 |
714 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393269282 rs368093434 |
717 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7696445 rs747155405 |
719 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA393269266 rs1469587255 |
719 | Q>R | No |
ClinGen TOPMed |
|
|
CA393269249 rs534764140 |
720 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA393268653 rs1567060862 |
721 | A>T | No |
ClinGen Ensembl |
|
|
CA273380843 rs982687836 |
722 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA393268574 rs1284743627 |
726 | K>N | No |
ClinGen gnomAD |
|
|
rs772309132 CA7696424 |
728 | K>M | No |
ClinGen ExAC gnomAD |
|
|
rs1273561512 CA393268533 |
728 | K>N | No |
ClinGen TOPMed |
|
|
rs748127824 CA7696423 |
729 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179337918 CA393268518 |
730 | A>T | No |
ClinGen TOPMed |
|
|
CA7696420 rs754292961 |
732 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755371613 CA7696421 |
732 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA273380777 rs929999816 |
733 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA393268460 rs929999816 |
733 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
rs929999816 CA393268459 |
733 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7696419 rs753000261 |
734 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs941990459 CA273380753 |
735 | A>T | No |
ClinGen TOPMed |
|
|
rs201527196 CA7696396 |
736 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1474118546 CA393267725 |
736 | R>Q | No |
ClinGen gnomAD |
|
|
CA393267699 rs1336998490 |
738 | Q>P | No |
ClinGen Ensembl |
|
|
rs751140820 CA7696394 |
740 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs868040684 CA273379459 |
741 | E>K | No |
ClinGen Ensembl |
|
|
CA393267609 rs1480460061 |
743 | S>R | No |
ClinGen gnomAD |
|
|
CA7696393 rs763492574 |
744 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA7696391 rs752713862 |
746 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393267566 rs1385834618 |
746 | K>R | No |
ClinGen Ensembl |
|
|
rs1273130449 CA393267541 |
747 | L>P | No |
ClinGen gnomAD |
|
|
CA7696388 rs776500255 |
750 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393267474 rs776500255 |
750 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273379387 rs754490225 |
752 | D>N | No |
ClinGen gnomAD |
|
|
rs1033865073 CA273379380 |
754 | T>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA393267354 rs1296025846 |
755 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA393267351 rs1567060310 |
755 | S>R | No |
ClinGen Ensembl |
|
|
CA7696387 rs767916517 |
757 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs761924188 CA7696386 |
758 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1303077659 CA393267264 |
759 | S>L | No |
ClinGen TOPMed |
|
|
CA393267254 rs374808114 |
760 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696384 rs374808114 |
760 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1313534950 CA393267240 |
761 | H>Y | No |
ClinGen TOPMed |
|
|
CA7696382 rs368425382 |
762 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7696381 rs374926121 |
762 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA393267201 rs1458295027 |
763 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7696379 rs371661404 |
765 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756983949 CA7696378 |
766 | Q>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 767 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7696377 rs536395500 |
768 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7696375 COSM358957 rs772064979 |
769 | G>S | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7696374 rs752196467 |
770 | N>I | No |
ClinGen ExAC |
|
|
rs567402434 CA7696372 |
771 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7696370 rs373734400 |
773 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7696369 rs373734400 |
773 | H>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs111410734 CA273379192 |
774 | F>S | No |
ClinGen Ensembl |
|
|
rs1249782747 CA393266893 |
775 | D>H | No |
ClinGen TOPMed |
|
|
CA393266847 rs1449960004 |
776 | S>* | No |
ClinGen TOPMed |
|
|
rs774464194 CA7696368 |
778 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1377146385 CA393266810 |
778 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7696367 rs764324002 |
779 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7696366 rs372692589 |
779 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393266738 rs1346977459 |
781 | S>I | No |
ClinGen gnomAD |
|
|
rs1323867814 CA393266729 |
782 | G>S | No |
ClinGen gnomAD |
|
|
CA273379116 rs1037947442 |
786 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
rs770347299 CA7696364 |
788 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200283479 CA7696363 |
789 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200283479 CA7696362 |
789 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
TCGA novel CA7696359 rs201035415 |
791 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC gnomAD NCI-TCGA |
|
rs747350857 CA7696360 |
791 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 792 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393266408 rs1268684912 |
793 | Q>H | No |
ClinGen gnomAD |
|
|
rs1205011858 CA393266397 |
794 | S>N | No |
ClinGen gnomAD |
|
|
rs1485117073 CA393266373 |
794 | S>R | No |
ClinGen gnomAD |
|
|
rs200306951 CA7696358 |
795 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200306951 CA393266353 |
795 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393266362 rs1335098752 |
795 | P>S | No |
ClinGen TOPMed |
|
|
CA7696356 rs778552026 |
797 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1302148791 CA393266295 |
798 | G>A | No |
ClinGen gnomAD |
|
|
rs755012180 CA7696355 |
799 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs202219946 CA7696354 |
800 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393266246 rs1337528077 COSM1608748 |
801 | A>T | liver [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA393266207 rs1290473274 |
802 | P>H | No |
ClinGen gnomAD |
|
|
CA393266214 rs1359752408 |
802 | P>S | No |
ClinGen gnomAD |
|
|
rs1481488194 CA393266198 |
803 | S>G | No |
ClinGen gnomAD |
|
|
rs755880494 CA7696352 |
803 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs370541588 CA7696351 |
805 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393266078 rs1171948795 |
807 | P>L | No |
ClinGen gnomAD |
|
|
rs764294101 CA7696350 |
808 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA393266036 rs1192525870 |
809 | V>F | No |
ClinGen gnomAD |
|
|
rs955844409 CA273379002 |
811 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs765270729 CA393265884 |
815 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA7696348 rs376889456 |
815 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7696346 rs759574432 |
816 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA273379000 rs759574432 |
816 | H>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 816 | H>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7696344 rs771413072 |
819 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1341295877 CA393265533 |
820 | R>S | No |
ClinGen gnomAD |
|
|
CA7696321 rs774165866 |
823 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1011621688 CA273377826 |
824 | G>D | No |
ClinGen Ensembl |
|
|
CA7696319 rs140203489 |
824 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7696318 rs140203489 |
824 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7696317 rs769671687 |
826 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7696316 rs745790608 |
829 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7696314 rs757068905 |
830 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs779112764 CA7696312 |
834 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs1239510493 CA393265232 |
835 | N>K | No |
ClinGen gnomAD |
|
| TCGA novel | 837 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393265182 rs1198704829 |
837 | S>P | No |
ClinGen gnomAD |
|
|
CA7696309 rs562032245 |
838 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA393265129 rs1211425256 |
839 | T>I | No |
ClinGen gnomAD |
|
|
CA393265117 rs1446921096 |
840 | P>S | No |
ClinGen TOPMed |
|
|
CA7696308 rs193131944 |
841 | M>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs756619123 CA7696307 |
842 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1379367386 CA393265039 |
844 | T>A | No |
ClinGen gnomAD |
|
|
rs1379367386 CA393265031 |
844 | T>S | No |
ClinGen gnomAD |
|
|
CA7696304 rs201446750 |
845 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201446750 CA7696305 |
845 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393264973 rs762648775 |
846 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7696302 rs573702601 |
846 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs774907808 CA7696300 COSM416791 |
848 | E>K | large_intestine Variant assessed as Somatic; 4.641e-05 impact. urinary_tract [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
| TCGA novel | 849 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs79678067 CA7696299 |
849 | D>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1178789338 CA393264786 |
851 | H>Q | No |
ClinGen gnomAD |
|
|
CA7696298 rs745314227 |
851 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776564868 CA7696297 |
852 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA393264781 rs1453258988 |
852 | S>T | No |
ClinGen gnomAD |
|
|
CA7696296 rs770789062 |
853 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393264716 rs1283325127 |
854 | P>H | No |
ClinGen gnomAD |
|
|
rs1283325127 CA393264713 |
854 | P>L | No |
ClinGen gnomAD |
|
|
rs1452071081 CA393264728 |
854 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs372768783 CA393264649 |
857 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM965603 rs372768783 CA7696295 |
857 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs777529385 CA7696294 |
863 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749494096 CA7696292 |
864 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1567059728 CA393264476 |
864 | N>Y | No |
ClinGen Ensembl |
|
|
rs1277158434 CA393264441 |
866 | P>L | No |
ClinGen gnomAD |
|
|
CA393264414 rs1477179573 |
868 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
COSM1240430 CA7696290 rs756236513 |
868 | R>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA393264403 rs1193737706 |
869 | G>R | No |
ClinGen TOPMed |
|
|
CA7696288 rs368191794 |
870 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1374932 CA7696287 rs757829668 |
873 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs764526151 CA7696285 |
874 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs538417103 CA7696284 |
875 | L>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs538417103 CA7696283 |
875 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1049060300 CA273377544 |
876 | L>R | No |
ClinGen TOPMed |
|
|
CA7696282 rs375704035 |
877 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 878 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759092580 CA7696280 |
879 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA393264263 rs1475175789 |
879 | G>S | No |
ClinGen TOPMed |
|
|
CA393264240 rs1489141041 |
880 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs776115646 CA7696279 |
880 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs760581998 CA7696278 |
881 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567059680 CA393264234 |
881 | R>K | No |
ClinGen Ensembl |
|
|
CA7696277 rs760581998 |
881 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210399970 CA393264214 |
882 | P>L | No |
ClinGen gnomAD |
|
|
CA7696275 rs771932306 |
884 | A>T | Variant assessed as Somatic; 4.642e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs747845370 CA7696274 |
885 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206130622 CA393264181 |
885 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA393264165 rs780335155 |
886 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696272 rs780335155 |
886 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769837970 CA7696271 |
888 | Y>C | No |
ClinGen ExAC TOPMed |
|
|
rs769837970 CA393264131 |
888 | Y>S | No |
ClinGen ExAC TOPMed |
|
|
rs746005902 CA7696270 |
889 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 890 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs370641374 CA393264084 |
891 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7696267 VAR_066558 rs11636318 |
893 | C>Y | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA393264047 rs1482535612 |
894 | D>V | No |
ClinGen TOPMed |
|
|
CA273377435 CA393264022 rs758804733 |
896 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696266 rs200115872 |
896 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1207425092 CA393264030 |
896 | Y>H | No |
ClinGen TOPMed |
|
|
rs1478703247 CA393263972 |
900 | H>P | No |
ClinGen gnomAD |
|
| rs776122233 | 900 | H>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7696262 rs765008043 |
901 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696263 rs752939300 |
901 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1454534262 CA393263951 |
902 | N>S | No |
ClinGen gnomAD |
|
|
rs1051238442 CA273377403 |
904 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1484820501 CA393263934 |
904 | W>* | No |
ClinGen gnomAD |
|
|
CA393263931 rs1051238442 |
904 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs759095351 CA7696261 |
905 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA393263910 rs1271557989 |
907 | R>S | No |
ClinGen gnomAD |
|
|
rs1455227880 CA393263913 |
907 | R>T | No |
ClinGen TOPMed |
|
|
CA393263889 rs1293080229 |
910 | K>R | No |
ClinGen gnomAD |
|
|
rs1333552727 CA393263880 |
911 | I>R | No |
ClinGen gnomAD |
|
|
CA393263867 rs924107165 |
913 | A>D | No |
ClinGen gnomAD |
|
|
rs924107165 CA273377373 |
913 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 915 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA393263850 rs1376604800 |
916 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs765843500 CA7696257 |
917 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs866080628 CA273377364 |
917 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1345794628 CA393263840 |
918 | V>M | No |
ClinGen TOPMed |
|
|
rs773151774 CA7696255 |
919 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596076631 CA393263819 |
921 | Y>S | No |
ClinGen Ensembl |
|
|
rs1467140627 CA393263808 |
923 | R>G | No |
ClinGen gnomAD |
|
|
CA7696253 rs761670260 |
923 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA393263796 rs1282976917 |
924 | N>K | No |
ClinGen TOPMed |
|
|
rs774009741 CA7696252 |
924 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs373286005 CA393263795 |
925 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373286005 CA7696251 |
925 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7696250 rs746059195 |
926 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA393263787 rs1182638725 COSM1301487 |
926 | R>Q | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs915456777 CA273377262 COSM701627 |
929 | A>T | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1596076599 CA393263764 |
930 | S>P | No |
ClinGen Ensembl |
|
|
CA7696245 rs758827627 |
931 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA7696246 rs376159828 |
931 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA393263752 rs1596076583 |
932 | V>A | No |
ClinGen Ensembl |
|
|
CA273377218 rs536106903 |
933 | P>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA393263746 rs1228562349 |
933 | P>L | No |
ClinGen gnomAD |
|
|
CA7696242 rs754697156 |
934 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA273377207 COSM288918 rs1028770773 |
934 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1388725347 CA393263728 |
936 | P>L | No |
ClinGen gnomAD |
|
|
rs975826867 CA273377201 |
938 | S>F | No |
ClinGen Ensembl |
|
|
CA393263712 rs1325118707 |
939 | P>Q | No |
ClinGen gnomAD |
|
|
CA393263714 rs1401022473 |
939 | P>S | No |
ClinGen gnomAD |
|
|
rs373067910 CA273377189 |
940 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373067910 CA7696241 |
940 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393263700 rs1351440447 |
941 | L>R | No |
ClinGen gnomAD |
|
|
CA393263696 rs765966596 |
942 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765966596 CA7696240 |
942 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 944 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs767554711 CA7696237 |
945 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA7696238 rs199991436 |
945 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7696235 rs775808551 |
946 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393263661 rs1489730956 |
947 | E>A | No |
ClinGen gnomAD |
|
|
CA7696234 rs774243935 |
947 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA7696232 rs762790734 |
948 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762790734 CA7696231 |
948 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1567059511 CA393263655 |
948 | T>P | No |
ClinGen Ensembl |
|
|
CA393263653 rs762790734 |
948 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393263656 rs1567059511 |
948 | T>S | No |
ClinGen Ensembl |
|
|
rs1393552604 CA393263640 |
950 | S>R | No |
ClinGen TOPMed |
|
|
CA393263636 rs1315969653 |
951 | R>K | No |
ClinGen gnomAD |
|
|
CA393263635 rs1315969653 |
951 | R>T | No |
ClinGen gnomAD |
|
|
rs777007591 CA7696230 |
952 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393263617 rs1376959984 |
953 | W>* | No |
ClinGen gnomAD |
|
|
rs200892782 CA393263598 |
955 | K>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200892782 CA7696228 |
955 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7696225 COSM221813 rs748569774 |
956 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7696226 rs369892976 |
956 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
CA393263581 rs1360258855 |
957 | S>C | No |
ClinGen TOPMed |
|
|
rs887717686 CA273377064 |
959 | P>S | No |
ClinGen gnomAD |
|
|
CA393263545 rs1160659483 |
961 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779434727 CA7696223 |
961 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779434727 CA273377062 |
961 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393263531 rs1173982132 |
962 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs749593481 CA7696221 |
963 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202028492 CA273377050 |
964 | I>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1481479533 CA393263522 |
964 | I>V | No |
ClinGen TOPMed |
|
|
CA393263504 CA393263506 rs570513707 |
965 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1012275826 CA393263512 |
965 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1012275826 CA273377048 |
965 | D>Y | No |
ClinGen TOPMed |
|
|
CA273377047 rs746179073 |
966 | L>H | No |
ClinGen Ensembl |
|
|
rs1385309322 CA393263490 |
967 | R>C | No |
ClinGen TOPMed |
|
|
rs1423516565 COSM1374931 CA393263488 |
967 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1260649807 CA393263482 |
968 | R>Q | No |
ClinGen gnomAD |
|
|
CA7696219 rs149972652 |
968 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7696218 rs750003678 |
969 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393263464 rs1353917649 |
970 | P>S | No |
ClinGen gnomAD |
|
|
CA393263422 rs1341136070 |
972 | F>L | No |
ClinGen gnomAD |
|
|
rs751478628 CA7696214 |
974 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696215 rs756752967 |
974 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7696213 rs530756760 |
975 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA273376997 rs939448203 |
976 | E>K | No |
ClinGen Ensembl |
|
|
CA7696211 CA393263348 rs775421999 |
977 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA7696210 rs766766453 |
979 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1170329375 CA393263275 |
982 | T>A | No |
ClinGen gnomAD |
|
|
rs772074882 CA7696207 |
982 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696205 rs201832940 |
983 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749716147 CA7696203 |
983 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696204 rs201832940 |
983 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1445905283 CA393263220 |
986 | E>K | No |
ClinGen gnomAD |
|
|
CA7696201 rs755806074 |
987 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 988 | Q>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745540991 CA7696200 |
989 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA7696198 rs777072766 |
990 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393263128 rs1567059404 |
991 | V>A | No |
ClinGen Ensembl |
|
|
rs1315934839 CA393263118 |
992 | H>P | No |
ClinGen gnomAD |
|
|
rs1279873223 CA393263097 |
993 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs777925530 CA7696196 |
994 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs1250485977 CA393263080 |
994 | K>R | No |
ClinGen TOPMed |
|
|
CA7696194 rs752591084 |
996 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA393263045 rs765092075 |
996 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA7696193 rs765092075 |
996 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA7696192 rs759334266 |
997 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7696191 rs200706433 |
998 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767720432 CA7696190 |
998 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA393262975 rs1171917974 |
1000 | F>L | No |
ClinGen gnomAD |
|
|
rs761799420 CA7696189 |
1002 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1596076353 CA393262917 |
1003 | H>P | No |
ClinGen Ensembl |
|
|
rs1596076347 CA393262899 |
1004 | L>R | No |
ClinGen Ensembl |
|
|
CA7696188 rs774482650 |
1004 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA7696187 rs769206384 |
1006 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1243731936 CA393262873 |
1006 | R>S | No |
ClinGen TOPMed |
|
|
CA273376839 rs769206384 |
1006 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1256271710 CA393262833 |
1008 | A>T | No |
ClinGen gnomAD |
|
|
rs1197394319 CA393262824 |
1008 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7696186 rs8031046 VAR_066559 |
1012 | R>K | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs376608239 CA7696184 |
1015 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376608239 CA7696185 |
1015 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs921589152 CA273376808 |
1015 | R>L | No |
ClinGen Ensembl |
|
|
CA393262657 rs1428681266 |
1017 | R>P | No |
ClinGen TOPMed |
|
|
rs780717046 CA7696182 |
1017 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs746558502 CA7696180 |
1018 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs188956218 CA7696179 |
1019 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7696177 rs752709944 |
1021 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752709944 CA7696178 |
1021 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696176 rs778944338 |
1022 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1015063992 CA393262490 |
1024 | P>A | No |
ClinGen gnomAD |
|
|
CA273376738 rs1015063992 |
1024 | P>S | No |
ClinGen gnomAD |
|
|
CA273376730 rs199628895 |
1025 | P>A | No |
ClinGen Ensembl |
|
|
rs946205962 CA273376723 |
1027 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA393262423 rs1177537519 |
1028 | P>T | No |
ClinGen gnomAD |
|
|
rs1239993992 CA393262385 |
1029 | R>K | No |
ClinGen gnomAD |
|
|
rs199738244 CA7696172 |
1030 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753602669 CA7696173 |
1030 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393262356 rs753602669 |
1030 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696170 rs762078753 |
1032 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs115607037 CA7696168 |
1034 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393262249 rs1379169723 |
1035 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA393262228 rs1436422553 |
1036 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA393262203 rs775993132 |
1037 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775993132 CA7696165 |
1037 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759884779 CA7696162 |
1039 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA7696160 rs375372811 |
1043 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA7696159 rs375372811 |
1043 | S>P | No |
ClinGen ExAC gnomAD |
|
|
COSM1267956 rs771728619 CA7696157 |
1044 | V>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA7696155 RCV000238835 rs150843673 |
1045 | S>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7696156 rs150843673 |
1045 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA273376561 rs867572347 |
1046 | A>S | No |
ClinGen Ensembl |
|
|
rs536203575 CA7696153 |
1047 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1214761508 CA393261973 |
1049 | S>G | No |
ClinGen gnomAD |
|
|
CA7696151 rs757457968 |
1049 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs370751216 CA7696150 |
1050 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370751216 CA7696149 |
1050 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367570481 CA7696148 |
1051 | D>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752774505 CA393261901 |
1052 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs752774505 CA7696147 |
1052 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA7696146 rs750270036 |
1053 | Q>* | No |
ClinGen ExAC |
|
|
CA393261881 rs1567059249 |
1053 | Q>K | No |
ClinGen Ensembl |
|
|
CA7696145 rs765722340 |
1055 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1596076180 CA393261819 |
1056 | S>G | No |
ClinGen Ensembl |
|
|
rs552217424 COSM1229456 CA273376498 |
1056 | S>N | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs376406331 CA7696144 |
1057 | A>T | Variant assessed as Somatic; 9.296e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1296690911 CA393261788 |
1059 | Q>K | No |
ClinGen gnomAD |
|
|
rs1452029557 CA393261778 |
1060 | Y>H | No |
ClinGen gnomAD |
|
|
CA273376485 rs893964693 |
1062 | Q>K | No |
ClinGen gnomAD |
|
|
rs776901190 CA7696143 |
1064 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1596076160 CA393261724 |
1064 | T>P | No |
ClinGen Ensembl |
|
|
rs201301937 CA273376481 |
1065 | H>P | No |
ClinGen Ensembl |
|
|
rs766800332 CA7696142 |
1065 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1050043437 CA273376480 |
1068 | G>D | No |
ClinGen TOPMed |
|
|
rs1050043437 CA393261664 |
1068 | G>V | No |
ClinGen TOPMed |
|
|
rs761070274 CA7696141 |
1069 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs761070274 CA393261653 |
1069 | R>M | No |
ClinGen ExAC gnomAD |
|
|
CA393261644 rs1297790580 |
1070 | F>L | No |
ClinGen TOPMed |
|
|
CA393261619 rs773011171 |
1071 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696140 rs773011171 |
1071 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393261623 rs1407022287 COSM2150846 |
1071 | P>S | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1191170064 CA393261613 |
1072 | R>K | No |
ClinGen gnomAD |
|
|
CA393261599 rs1344034978 |
1073 | S>Y | No |
ClinGen TOPMed |
|
|
rs1264162912 CA393261585 |
1074 | V>M | No |
ClinGen gnomAD |
|
|
CA393261568 rs1209577528 |
1075 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA393261552 rs747727370 |
1076 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs773980813 CA7696135 |
1076 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA7696136 rs747727370 |
1076 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1317788983 CA393261522 |
1077 | P>L | No |
ClinGen gnomAD |
|
|
CA7696134 rs768520758 |
1078 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768520758 CA393261510 |
1078 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7696133 rs374060694 |
1078 | S>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA273376397 rs974120392 |
1079 | R>K | No |
ClinGen TOPMed |
|
|
rs779813617 CA7696132 |
1080 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs191923561 CA7696131 |
1081 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA393261462 rs778039668 |
1081 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA7696130 rs745599553 |
1081 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA393261420 rs1335564046 |
1084 | S>* | No |
ClinGen gnomAD |
|
|
CA273376346 rs1006822075 |
1086 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7696125 rs765330740 |
1087 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA393261313 rs1210832941 |
1090 | V>A | No |
ClinGen gnomAD |
|
|
rs1239304364 CA393261328 |
1090 | V>M | No |
ClinGen gnomAD |
|
|
CA273376306 rs754730773 |
1091 | D>G | No |
ClinGen gnomAD |
|
|
CA393261237 rs1319004888 |
1094 | D>E | No |
ClinGen gnomAD |
|
|
CA393261252 rs1200973623 |
1094 | D>N | No |
ClinGen gnomAD |
|
|
CA393261228 rs1567059118 |
1095 | L>S | No |
ClinGen Ensembl |
|
|
rs766736635 CA7696122 |
1096 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA393261190 rs1376446977 |
1097 | C>F | No |
ClinGen gnomAD |
|
|
rs372755367 CA7696121 |
1098 | S>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_066560 CA7696120 rs4417518 |
1099 | D>N | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA273376279 rs951950405 |
1101 | V>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs376468406 CA7696119 |
1101 | V>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
No associated diseases with Q7Z5M5
1 regional properties for Q7Z5M5
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | TMC domain | 499 - 614 | IPR012496 |
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
1 GO annotations of molecular function
| Name | Definition |
|---|---|
| mechanosensitive ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens in response to a mechanical stress. |
No GO annotations of biological process
| Name | Definition |
|---|---|
| No GO annotations for biological process |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8IU68 | TMC8 | Transmembrane channel-like protein 8 | Homo sapiens (Human) | PR |
| Q7Z402 | TMC7 | Transmembrane channel-like protein 7 | Homo sapiens (Human) | PR |
| Q6UXY8 | TMC5 | Transmembrane channel-like protein 5 | Homo sapiens (Human) | PR |
| Q8TDI8 | TMC1 | Transmembrane channel-like protein 1 | Homo sapiens (Human) | PR |
| Q8R4P5 | Tmc1 | Transmembrane channel-like protein 1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MKTSKASQRY | RGIRRNASQC | YLYQESLLLS | NLDDSFSADE | TGDSNDPEQI | FQNIQFQKDL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| MANIRCRPWT | MGQKLRALRQ | AKNIVLKFEG | RLTRTRGYQA | AGAELWRKFA | RLACNFVVIF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IPWEMRIKKI | ESHFGSGVAS | YFIFLRWLFG | INIVLTIMTG | AFIVIPELIA | GQPFGSTARK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TIPKEQVSSA | QDLDTVWSLG | GYLQYSVLFY | GYYGRERKIG | RAGYRLPLAY | FLVGMAVFAY |
| 250 | 260 | 270 | 280 | 290 | 300 |
| SFIILLKKMA | KNSRTSLASA | SNENYTFCWR | VFCAWDYLIG | NPEAAESKTA | AIVNSIREAI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LEEQEKKKSK | NLAVTICLRI | IANILVLLSL | AGSIYLIYFV | VDRSQKLEQS | KKELTLWEKN |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EVSVVVSLVT | MIAPSAFDLI | AALEMYHPRT | TLRFQLARVL | VLYLGNLYSL | IIALLDKVNS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MSIEEMATKN | NTSHWIDSTT | FFATRTAPEE | EKWSTSRPGM | GLRRNNTWAL | EETSISAYTM |
| 490 | 500 | 510 | 520 | 530 | 540 |
| PLIKANKTSL | HTQSPQDQCW | ETYVGQEMLK | LSIIDMLFTV | ASILLIDFFR | GLFVRYLSDY |
| 550 | 560 | 570 | 580 | 590 | 600 |
| WCWDLESKFP | EYGEFKIAEN | VLHLVYNQGM | IWMGAFFSPC | LPAFNVLKLI | GLMYLRSWAV |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LTCNVPHQQV | FRASRSNNFY | LAMLLFMLFL | CMLPTIFAIV | RYKPSLNCGP | FSGQEKIYDI |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VSETIEKDFP | VWFGSVVGHI | SSPVVILPAV | LLLFMLIYYL | QSIARSLKLS | NHQLKMQIQN |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ARSEDKKKVA | QMVEARIQTQ | EESTKKLPND | SDLTSQLSSA | HSGTPQNNGN | VAHFDSGSSK |
| 790 | 800 | 810 | 820 | 830 | 840 |
| SGRIETVAQS | MPQSPRPGDR | APSSPLPGVP | KSRLEHETNR | YLHGLCASTS | DLHRNRSRTP |
| 850 | 860 | 870 | 880 | 890 | 900 |
| MTFTTHIEDV | HSEPLFRKDF | QQINPPHRGP | QASTLLAQGP | RPHAPRYYVI | NECDSYKKKH |
| 910 | 920 | 930 | 940 | 950 | 960 |
| LNVWPERHFK | IDASGDIVEL | YPRNVRQYAS | RVPRQPPSPQ | LSEEEEETPS | RDWIKRSLPP |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| RSLIDLRRAP | HFYIGERSES | QTRDPEHQGR | VHYKSWNEDF | EGHLERPAYV | PRKPRSRNFQ |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| YPQPPLKPRG | KPRFEPSLTE | SDSVSAASSS | DQQNSSADQY | LQVTHSQGRF | PRSVGQPSRR |
| 1090 | |||||
| KAKSGQELTV | DLDDLICSDV |