Q68CK6
PR
Gene name |
ACSM2B (ACSM2, HYST1046) |
Protein name |
Acyl-coenzyme A synthetase ACSM2B, mitochondrial |
Names |
Acyl-CoA synthetase medium-chain family member 2B, Benzoate--CoA ligase, Butyrate--CoA ligase 2B, Butyryl-coenzyme A synthetase 2B, Middle-chain acyl-CoA synthetase 2B, Xenobiotic/medium-chain fatty acid-CoA ligase HXM-A |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:348158 |
EC number |
6.2.1.2: Acid--thiol ligases |
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 Q68CK6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q68CK6-F1 | Predicted | AlphaFoldDB |
671 variants for Q68CK6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1596732207 CA394995210 |
2 | H>Y | No |
ClinGen Ensembl |
|
|
CA7942668 rs148454487 |
3 | W>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394995201 rs1301165198 |
3 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA7942665 rs745852481 COSM434807 |
5 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM702459 rs564472730 CA7942664 |
5 | R>Q | lung endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA7942663 rs757224737 |
6 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394995179 rs1596732160 |
7 | V>G | No |
ClinGen Ensembl |
|
|
rs753711914 CA7942662 |
7 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 7 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1203637892 CA394995172 |
8 | Q>R | No |
ClinGen TOPMed |
|
|
CA394995164 rs1176368512 |
9 | G>E | No |
ClinGen gnomAD |
|
|
rs1596732127 CA394995153 |
11 | C>Y | No |
ClinGen Ensembl |
|
|
CA7942660 rs755722980 |
14 | W>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394995122 rs1261117065 |
16 | T>A | No |
ClinGen gnomAD |
|
|
CA394995119 rs1203409106 |
16 | T>S | No |
ClinGen gnomAD |
|
|
CA7942658 rs766992913 |
17 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA394995112 rs1160224299 |
17 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs149584208 TCGA novel CA279273910 |
18 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ESP TOPMed |
|
rs752100114 CA7942656 |
19 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7942657 rs759022805 |
19 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs763393675 CA7942654 |
21 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7942653 rs141648973 |
21 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394995087 rs141648973 |
21 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394995088 rs141648973 |
21 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146338864 CA279273896 |
22 | T>A | No |
ClinGen ESP gnomAD |
|
|
CA7942651 rs762001558 |
23 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA394995070 rs1423068721 |
24 | Y>* | No |
ClinGen TOPMed |
|
|
CA7942650 rs776893620 |
27 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1402538807 CA394995041 |
28 | R>S | No |
ClinGen TOPMed |
|
| TCGA novel | 28 | R>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747120834 CA394995031 |
30 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747120834 CA7942648 |
30 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780236440 CA7942647 |
31 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427638614 CA394995021 |
32 | S>T | No |
ClinGen gnomAD |
|
|
rs370338597 CA7942646 |
34 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749180008 CA7942645 |
35 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1346576762 CA394994993 |
36 | G>D | No |
ClinGen TOPMed |
|
|
rs755921481 CA7942643 |
37 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA394994975 rs1191705830 |
39 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394994961 rs1203237265 |
41 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7942641 rs367698409 |
41 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394994960 rs1203237265 |
41 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA394994959 rs1203237265 |
41 | P>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 44 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1339866130 CA394994911 |
48 | S>G | No |
ClinGen gnomAD |
|
|
CA279273854 rs941932989 |
48 | S>N | No |
ClinGen TOPMed |
|
|
CA394994880 rs1224282110 |
52 | D>G | No |
ClinGen TOPMed |
|
|
CA7942638 rs765808799 |
53 | H>L | No |
ClinGen ExAC gnomAD |
|
|
rs750929907 CA394994862 CA7942636 |
54 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1332959076 CA394994855 |
56 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA394994850 rs1490126180 |
56 | D>V | No |
ClinGen TOPMed |
|
|
CA7942634 rs762209302 |
57 | M>T | No |
ClinGen ExAC gnomAD |
|
|
COSM3817437 rs776824705 CA7942633 |
58 | E>Q | breast [Cosmic] | No |
ClinGen cosmic curated ExAC |
|
CA7942631 rs760926564 |
59 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs764437957 CA7942632 |
59 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs746715033 CA7942602 |
60 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs530395411 CA7942601 |
63 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7942600 rs757950871 |
63 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA394994122 rs74479331 |
64 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745409071 CA7942599 |
64 | L>I | No |
ClinGen ExAC gnomAD |
|
|
COSM968100 CA7942598 rs74479331 |
64 | L>P | endometrium central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs757791905 CA7942597 |
65 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA279270966 rs924836372 |
66 | S>T | No |
ClinGen TOPMed |
|
|
CA7942595 rs371900959 |
67 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371900959 CA394994108 |
67 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756522282 CA7942594 |
68 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1400210848 CA394994097 |
69 | L>M | No |
ClinGen gnomAD |
|
|
CA394994087 rs1285369922 |
70 | W>C | No |
ClinGen TOPMed |
|
|
CA279270942 rs977090394 |
71 | W>* | No |
ClinGen TOPMed |
|
|
CA7942592 rs753006019 |
72 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA394994073 rs753006019 |
72 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs759627168 CA7942590 |
73 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA394994061 rs1214274303 |
74 | G>E | No |
ClinGen TOPMed |
|
|
CA7942589 rs751672845 |
74 | G>W | No |
ClinGen ExAC gnomAD |
|
|
CA394994059 rs1264692031 |
75 | K>Q | No |
ClinGen gnomAD |
|
|
rs776526040 CA7942586 |
76 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7942585 rs563151418 |
77 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760492137 CA7942584 |
78 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA394994001 rs1283116711 |
79 | L>F | No |
ClinGen gnomAD |
|
|
CA7942583 rs775213714 |
81 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs775213714 CA394993968 |
81 | W>L | No |
ClinGen ExAC gnomAD |
|
|
rs1222204236 CA394993976 |
81 | W>R | No |
ClinGen gnomAD |
|
|
CA394993949 rs1470971378 |
82 | N>T | No |
ClinGen TOPMed |
|
|
rs968405178 CA279270887 |
82 | N>Y | No |
ClinGen TOPMed |
|
|
rs771766731 CA7942582 |
83 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA394993928 rs1430061575 |
84 | R>* | No |
ClinGen gnomAD |
|
|
rs1430061575 CA394993930 |
84 | R>G | No |
ClinGen gnomAD |
|
|
CA7942581 rs745441280 |
85 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778557354 CA394993901 |
86 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1596725265 CA394993896 |
86 | L>R | No |
ClinGen Ensembl |
|
|
CA7942580 rs778557354 |
86 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394993886 rs1406540325 |
87 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs749862085 CA7942578 |
87 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs756651036 CA7942576 |
87 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394993867 rs1421520259 |
88 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7942575 rs753136707 |
89 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA394993853 rs753136707 |
89 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA7942573 rs755233431 |
90 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs542088831 CA7942572 |
91 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394993785 rs1461535633 |
94 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766528681 CA394993760 |
95 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394993752 rs8056693 |
96 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7942570 rs8056693 |
96 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 97 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394993741 rs1214554748 |
97 | L>I | No |
ClinGen gnomAD |
|
|
rs553128923 CA7942569 |
98 | S>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7942568 rs764038642 |
98 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394993627 rs1567214079 |
104 | Q>R | No |
ClinGen Ensembl |
|
|
CA7942566 rs141121285 |
105 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7942565 rs577119435 |
105 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394993616 rs577119435 |
105 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394993619 rs577119435 |
105 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1409369968 CA394993606 |
106 | G>E | No |
ClinGen gnomAD |
|
|
COSM702461 CA7942564 rs759295384 |
106 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
| TCGA novel | 106 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7942563 rs559044619 |
107 | D>G | No |
ClinGen 1000Genomes ExAC |
|
|
CA394993597 rs1416750744 |
107 | D>N | No |
ClinGen gnomAD |
|
|
CA7942562 COSM107686 rs148136861 |
108 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM968099 rs143779927 CA7942560 |
108 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7942561 rs143779927 |
108 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394993573 rs148136861 |
108 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394993538 rs1385737959 |
110 | A>T | No |
ClinGen TOPMed |
|
|
CA394993510 rs1181397212 |
111 | V>A | No |
ClinGen gnomAD |
|
|
rs374648082 CA7942559 |
112 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7942558 rs554694059 |
114 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1252300432 CA394993460 |
114 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1252300432 CA394993465 |
114 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7942557 rs781663184 |
115 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201089298 CA7942555 |
115 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201089298 CA7942556 |
115 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394993448 rs1567213999 |
116 | V>M | No |
ClinGen Ensembl |
|
|
rs1041234995 CA279270675 |
117 | P>H | No |
ClinGen TOPMed |
|
|
rs375844763 CA7942553 |
117 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 118 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756106862 CA7942550 |
119 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs1375249172 CA394993398 |
119 | W>L | No |
ClinGen gnomAD |
|
|
rs1375249172 CA394993401 |
119 | W>S | No |
ClinGen gnomAD |
|
|
rs566287967 CA279270646 |
120 | W>R | No |
ClinGen 1000Genomes |
|
|
rs752568940 CA7942549 |
121 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs752568940 CA394993361 |
121 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA394993334 rs1596724945 |
122 | V>G | No |
ClinGen Ensembl |
|
|
rs1283010043 CA394993272 |
125 | G>R | No |
ClinGen TOPMed |
|
|
rs774158462 CA7942546 |
126 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1340842714 CA394993226 |
127 | I>T | No |
ClinGen TOPMed |
|
|
rs1161253809 CA394993236 |
127 | I>V | No |
ClinGen gnomAD |
|
|
rs267604440 CA7942544 |
128 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 128 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7942543 rs538802177 |
128 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7942542 rs769424453 |
129 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1385109189 CA394992825 |
130 | G>A | No |
ClinGen gnomAD |
|
|
CA394992826 rs1385109189 |
130 | G>D | No |
ClinGen gnomAD |
|
|
rs769054096 CA7942522 |
132 | I>V | No |
ClinGen ExAC gnomAD |
|
|
COSM3690821 rs1209967180 CA394992761 |
134 | M>I | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs147789042 CA7942520 |
134 | M>R | No |
ClinGen ESP ExAC TOPMed |
|
|
CA7942519 rs772409041 |
135 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7942518 rs746141038 |
137 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA394992718 rs1480314662 |
138 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs779079829 CA7942517 |
138 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394992720 rs1480314662 |
138 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7942516 rs771105536 |
139 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394992699 rs1429178288 |
139 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 140 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 142 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1043723129 CA279268079 |
143 | T>A | No |
ClinGen TOPMed |
|
|
CA394992627 rs1203615663 |
144 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs777853409 CA7942514 |
145 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1437895163 CA394992604 |
146 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1346865761 CA394992581 |
147 | Y>C | No |
ClinGen TOPMed |
|
|
rs751510953 CA7942512 |
148 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA621658979 rs1322593294 |
148 | R>I | No |
ClinGen gnomAD |
|
|
rs1321284530 CA394992571 |
148 | R>K | No |
ClinGen TOPMed |
|
|
rs750203074 CA7942509 |
151 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7942511 rs780053622 |
151 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs750203074 CA7942510 |
151 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7942508 rs574648610 |
153 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7942507 rs753290502 |
154 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7942506 rs753290502 |
154 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394992487 rs753290502 |
154 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7942505 rs763653546 |
155 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394992473 rs763653546 |
155 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394992461 rs1346035804 |
156 | A>P | No |
ClinGen TOPMed |
|
| TCGA novel | 156 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1567212054 CA394992445 |
157 | I>T | No |
ClinGen Ensembl |
|
|
rs761141010 CA7942504 |
157 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs775949953 CA7942503 |
158 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA394992439 rs1337014729 |
158 | V>I | No |
ClinGen gnomAD |
|
|
CA394992429 rs1404428341 |
159 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA394992423 rs1404428341 |
159 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs895136438 CA279268039 |
161 | D>E | No |
ClinGen TOPMed |
|
|
rs1372569572 CA394992391 |
161 | D>V | No |
ClinGen gnomAD |
|
|
rs1446527615 CA394992354 |
163 | V>A | No |
ClinGen gnomAD |
|
|
rs1191043442 CA394992359 |
163 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1432954232 CA394992342 |
164 | I>F | No |
ClinGen gnomAD |
|
| TCGA novel | 164 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1209917208 CA394992333 |
164 | I>S | No |
ClinGen TOPMed |
|
| TCGA novel | 164 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA279268022 rs1055160229 |
165 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774653362 CA394992237 |
169 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774653362 CA7942500 |
169 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394992234 rs1460679585 |
170 | V>M | No |
ClinGen gnomAD |
|
|
CA7942498 rs749463090 |
171 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394992215 rs749463090 |
171 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1339929361 CA394992204 |
171 | A>V | No |
ClinGen gnomAD |
|
|
rs1250692272 CA394992183 |
173 | E>Q | No |
ClinGen gnomAD |
|
|
rs777783548 CA7942497 |
174 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs769904929 CA7942496 |
175 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394992108 rs1315280456 |
177 | L>V | No |
ClinGen gnomAD |
|
|
CA394992100 rs1567211975 |
178 | R>G | No |
ClinGen Ensembl |
|
|
CA394992092 rs1457653822 |
178 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA7942495 rs746992275 |
179 | I>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA394992083 rs1478344655 |
179 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA7942494 rs559620196 |
179 | I>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7942493 rs758361163 |
180 | K>M | No |
ClinGen ExAC |
|
|
rs1379126505 CA394992058 |
181 | L>P | No |
ClinGen gnomAD |
|
|
rs1396323152 CA394992027 |
184 | S>P | No |
ClinGen gnomAD |
|
| TCGA novel | 185 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756925225 CA7942490 |
186 | K>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 187 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7942489 rs753511934 |
187 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394991951 rs753511934 |
187 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394991936 rs1385981821 |
188 | C>Y | No |
ClinGen gnomAD |
|
|
rs200183083 CA279267975 |
189 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7942487 rs760204725 |
189 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438211486 CA394991894 |
190 | G>R | No |
ClinGen gnomAD |
|
|
rs768036731 CA7942485 |
193 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA394991829 rs1596719848 |
193 | N>I | No |
ClinGen Ensembl |
|
|
CA7942484 rs759981336 |
194 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA394991744 rs1291959782 |
198 | L>V | No |
ClinGen gnomAD |
|
|
rs1274329386 CA394991099 |
199 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs752047892 CA394991081 |
201 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7942448 rs752047892 |
201 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7942447 rs766931179 |
203 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7942446 rs149954932 |
204 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394991035 rs1445544308 |
205 | H>R | No |
ClinGen gnomAD |
|
|
rs1301981099 CA394991039 |
205 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs750803105 CA7942445 |
206 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394990998 rs1171082088 |
207 | C>W | No |
ClinGen gnomAD |
|
|
CA394990968 rs1428512605 |
210 | T>A | No |
ClinGen gnomAD |
|
|
rs1192745297 CA394990946 |
212 | S>G | No |
ClinGen TOPMed |
|
|
rs765513555 CA7942444 |
212 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765513555 CA394990940 |
212 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1480102639 CA394990925 |
213 | Q>P | No |
ClinGen TOPMed |
|
|
CA7942443 rs762181920 |
214 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA7942442 rs139218504 |
215 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7942441 rs764305406 |
216 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764305406 CA394990882 |
216 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1233917237 CA394990802 |
221 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1233917237 CA394990799 |
221 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1344884008 CA394990793 |
222 | S>G | No |
ClinGen TOPMed |
|
|
CA394990784 rs1205142408 |
222 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1567211040 CA394990757 |
224 | T>N | No |
ClinGen Ensembl |
|
|
rs377640239 CA279266630 |
225 | S>C | No |
ClinGen ESP TOPMed |
|
|
CA7942438 rs374276624 |
227 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7942436 rs762734989 |
232 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA394990635 rs1310881419 |
233 | H>L | No |
ClinGen gnomAD |
|
|
rs1223894407 CA394990641 |
233 | H>Y | No |
ClinGen TOPMed |
|
|
CA394990621 rs1459511899 |
234 | S>Y | No |
ClinGen gnomAD |
|
|
rs151189567 CA7942435 |
235 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769565102 CA7942434 COSM3506997 |
236 | S>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1409204223 COSM1518394 CA394990575 |
237 | S>I | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1424751746 CA394990555 |
239 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1424751746 CA394990556 |
239 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs780791831 CA7942432 |
240 | L>F | No |
ClinGen ExAC gnomAD |
|
|
COSM1376411 CA394990547 rs1269337966 |
240 | L>P | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs768259198 CA394990524 |
242 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7942431 rs768259198 |
242 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1409230203 CA394990518 |
242 | A>V | No |
ClinGen gnomAD |
|
|
rs1471931670 CA394990509 |
243 | K>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746541108 CA7942430 |
244 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7942429 rs779364793 |
245 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223261902 CA394990480 |
245 | D>Y | No |
ClinGen gnomAD |
|
|
rs946120902 CA279266549 |
246 | A>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 247 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394990450 rs1318499629 |
247 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1218261505 CA394990454 |
247 | G>S | No |
ClinGen gnomAD |
|
|
rs1172535570 CA394990211 |
248 | W>C | No |
ClinGen gnomAD |
|
|
rs779589539 CA7942407 |
249 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA394990196 rs1247592405 |
249 | T>I | No |
ClinGen gnomAD |
|
|
rs1186962623 CA394990179 |
250 | G>V | No |
ClinGen gnomAD |
|
|
CA7942405 rs754271482 |
251 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs540152177 CA7942404 |
252 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1344148277 CA394990135 |
253 | A>S | No |
ClinGen gnomAD |
|
|
rs756428601 CA7942403 |
253 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1022985700 CA279265761 |
254 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 255 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1228907574 CA394990094 |
255 | D>V | No |
ClinGen gnomAD |
|
|
CA7942402 rs752853155 |
257 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA394990028 rs1296372130 |
258 | W>* | No |
ClinGen gnomAD |
|
|
rs1432534153 CA394989985 |
259 | T>I | No |
ClinGen gnomAD |
|
|
rs1385418449 CA394989955 |
260 | I>T | No |
ClinGen gnomAD |
|
|
CA7942401 rs767685754 |
262 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA394989905 rs1335203408 |
262 | D>N | No |
ClinGen gnomAD |
|
|
CA7942400 rs754983348 COSM702464 |
264 | G>V | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs751598926 CA7942399 |
265 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765182724 CA7942398 |
265 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA394989831 rs1172832925 |
265 | W>R | No |
ClinGen TOPMed |
|
|
rs1465207347 CA394989778 |
266 | I>T | No |
ClinGen TOPMed |
|
|
CA7942397 rs373399717 |
268 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7942395 rs142151089 |
269 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7942394 rs745409570 |
270 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187918201 CA394989702 |
270 | L>S | No |
ClinGen gnomAD |
|
|
rs774971295 CA7942393 |
271 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs771713657 CA7942392 |
271 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7942391 rs745389976 |
272 | S>* | No |
ClinGen ExAC gnomAD |
|
|
CA394989585 rs1361067257 |
275 | E>* | No |
ClinGen gnomAD |
|
|
CA7942388 rs749812864 |
276 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394989552 rs749812864 |
276 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7942386 rs77863699 |
278 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1370017422 CA394989402 |
280 | G>E | No |
ClinGen gnomAD |
|
|
CA7942385 rs372194030 |
280 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1254040137 CA394989320 |
283 | T>I | No |
ClinGen TOPMed |
|
|
CA394989255 rs1194261390 |
286 | H>N | No |
ClinGen TOPMed |
|
|
CA394989231 rs1262450908 |
287 | L>F | No |
ClinGen TOPMed |
|
|
CA394989181 rs1472323104 |
289 | P>S | No |
ClinGen gnomAD |
|
|
rs1167453235 CA394989151 |
290 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs755180335 CA7942382 |
291 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1175739777 CA394989092 |
292 | D>G | No |
ClinGen TOPMed |
|
| TCGA novel | 293 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7942381 rs751641752 |
298 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557429764 CA279265671 |
298 | K>R | No |
ClinGen 1000Genomes |
|
|
rs866561627 CA279264094 |
301 | S>F | No |
ClinGen Ensembl |
|
|
CA394985853 rs1308040578 |
302 | S>G | No |
ClinGen gnomAD |
|
|
rs1428574335 CA394985841 |
302 | S>T | No |
ClinGen gnomAD |
|
|
CA279264091 rs1054724397 |
303 | Y>D | No |
ClinGen TOPMed |
|
| TCGA novel | 304 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7942341 rs772229711 |
304 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1413609506 CA394985760 |
305 | I>M | No |
ClinGen gnomAD |
|
|
RCV000957384 rs80135299 CA7942340 |
305 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7942339 rs778982594 |
307 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA279264068 rs368523670 |
307 | S>N | No |
ClinGen ESP |
|
|
rs756077029 CA394985705 |
308 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1253172307 CA394985697 |
308 | M>T | No |
ClinGen gnomAD |
|
|
CA7942338 rs756077029 |
308 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA394985660 COSM358988 CA394985656 rs1482129066 |
309 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA7942337 rs373891337 |
309 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA394985650 rs1267437175 |
310 | G>R | No |
ClinGen gnomAD |
|
|
rs1222642876 CA394985636 |
311 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA394985617 rs754792708 |
312 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs754792708 CA394985615 |
312 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7942335 rs754792708 |
312 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1174467958 CA394985597 |
313 | I>T | No |
ClinGen TOPMed |
|
|
rs1288931825 CA394985575 |
315 | Y>C | No |
ClinGen gnomAD |
|
|
rs766152891 CA7942333 |
315 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
COSM138072 rs149635560 CA7942330 |
316 | R>Q | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs762639289 CA7942331 |
316 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394985517 rs1348958701 |
319 | L>Q | No |
ClinGen gnomAD |
|
|
rs950588269 CA279264049 |
320 | Q>H | No |
ClinGen TOPMed |
|
|
CA394985484 rs1163041274 |
321 | Q>* | No |
ClinGen gnomAD |
|
|
CA7942329 rs138313532 |
322 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA279264037 rs144594944 |
323 | L>F | No |
ClinGen Ensembl |
|
|
rs1320548131 CA394985445 |
323 | L>R | No |
ClinGen TOPMed |
|
|
CA7942328 rs762273713 |
324 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394985407 rs1410115868 |
325 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA394985399 rs1567208292 |
325 | S>T | No |
ClinGen Ensembl |
|
|
rs150487730 CA279263900 |
326 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7942298 rs534063904 |
328 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs865944833 CA279263889 |
329 | P>L | No |
ClinGen TOPMed |
|
|
rs183078161 CA7942297 |
329 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7942296 rs745608503 |
330 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA7942295 rs745608503 |
330 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA394985197 rs1389788896 |
331 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1426543992 CA394985189 |
332 | Q>K | No |
ClinGen gnomAD |
|
|
rs756798470 CA7942293 |
333 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA394985124 rs1335944237 |
334 | C>* | No |
ClinGen TOPMed |
|
|
rs753389371 CA7942292 |
334 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs551525300 CA7942291 |
334 | C>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394985119 rs1473722693 |
335 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7942288 rs549256374 |
336 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759981521 CA7942287 |
336 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs539831165 CA7942286 |
337 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7942284 rs58301506 |
339 | E>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7942283 rs142106780 |
339 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394985036 rs142106780 |
339 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7942285 rs58301506 |
339 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746981930 CA7942281 |
340 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775599735 CA7942280 |
341 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7942279 rs267604439 |
342 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7942278 rs370702793 |
342 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 342 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA394984879 rs1596711274 |
344 | E>D | No |
ClinGen Ensembl |
|
|
rs778501991 CA7942277 |
345 | T>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 347 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 347 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7942275 rs562296082 |
347 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394984768 rs1188153252 |
348 | N>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs777315522 CA7942274 |
350 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1183647546 CA394984644 |
351 | A>V | No |
ClinGen gnomAD |
|
|
CA7942273 rs755593237 |
352 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 352 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193783721 CA394984549 |
354 | G>E | No |
ClinGen gnomAD |
|
|
CA394984533 rs1193783721 |
354 | G>V | No |
ClinGen gnomAD |
|
|
CA7942271 rs200390240 |
355 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781683350 CA7942270 |
357 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs201804117 CA7942269 |
358 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA394984440 rs374731787 |
358 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1723839 CA7942268 rs374731787 |
358 | R>Q | Variant assessed as Somatic; 0.0 impact. NS [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs202090220 CA7942267 |
360 | F>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394984338 rs1407354893 |
362 | G>D | No |
ClinGen gnomAD |
|
|
CA7942266 rs143459487 |
362 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765514025 CA7942264 |
365 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs762006157 CA7942263 |
365 | E>V | No |
ClinGen ExAC gnomAD |
|
| rs772046996 | 366 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7942262 rs372593813 |
366 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1367635951 CA394983162 |
368 | L>* | No |
ClinGen gnomAD |
|
|
rs139236064 CA7942236 |
368 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs780447076 CA394983149 |
370 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7942234 rs746485818 |
370 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394983151 rs746485818 |
370 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780447076 CA7942233 |
370 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394983144 rs1415655883 |
371 | M>V | No |
ClinGen gnomAD |
|
|
CA7942230 rs570695752 |
372 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394983127 rs1391640961 |
373 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs779412492 CA7942229 |
373 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1475317388 CA394983123 |
374 | K>R | No |
ClinGen gnomAD |
|
|
rs1212931958 CA394983109 |
376 | M>K | No |
ClinGen gnomAD |
|
|
CA394983111 rs1240845190 |
376 | M>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 377 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7942227 rs753982140 |
380 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs764272875 CA7942226 |
380 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs752776275 CA7942224 |
381 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs961562202 CA279263023 |
383 | M>I | No |
ClinGen TOPMed |
|
|
rs972695095 CA394983063 |
383 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7942222 rs762809844 |
383 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs972695095 CA279263031 |
383 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1482026512 CA394983049 |
384 | G>A | No |
ClinGen TOPMed |
|
|
CA7942219 rs146865904 |
385 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs867408885 CA279263001 |
385 | T>S | No |
ClinGen Ensembl |
|
|
rs768303608 CA7942217 |
386 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394983006 rs548699739 |
387 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs548699739 CA7942216 |
387 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1480687100 CA394982973 |
389 | C>Y | No |
ClinGen TOPMed |
|
|
rs1175361118 CA394982934 |
391 | D>G | No |
ClinGen TOPMed |
|
|
rs746360519 CA7942213 |
392 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA394982923 rs1377130511 |
392 | V>I | No |
ClinGen TOPMed |
|
|
rs185232542 CA7942212 |
393 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7942211 rs757662355 |
393 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7942184 rs753638781 |
394 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279287848 rs555534717 |
395 | I>M | No |
ClinGen Ensembl |
|
|
rs752366107 CA394989904 |
395 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs752366107 CA7942181 |
395 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs760293463 CA7942182 |
395 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs191085834 CA7942180 |
396 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 398 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371794495 CA279287836 |
398 | K>Q | No |
ClinGen ESP TOPMed |
|
|
rs773941938 CA7942178 |
398 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771347362 CA7942177 |
399 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA279287791 rs542035882 |
401 | V>D | No |
ClinGen Ensembl |
|
|
CA7942174 rs576087006 |
401 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7942172 rs576087006 |
401 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA7942173 rs576087006 |
401 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1192057435 CA394989747 |
403 | P>L | No |
ClinGen gnomAD |
|
|
rs149747433 CA279287787 |
403 | P>T | No |
ClinGen ESP TOPMed |
|
|
rs780099757 CA7942168 |
404 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA7942169 rs139892532 |
404 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs146499503 CA7942164 COSM968089 |
405 | G>S | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP TOPMed |
| TCGA novel | 405 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7942163 rs753791160 |
406 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466161871 CA394989673 |
407 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
rs777518727 CA279287719 |
408 | G>E | No |
ClinGen Ensembl |
|
|
CA279287697 rs143681214 |
409 | D>G | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA7942161 rs572199361 |
409 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 409 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 410 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs142553905 CA7942160 |
411 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs752489107 CA7942159 |
412 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs767292782 CA7942158 |
413 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1053813166 CA279287684 |
415 | K>I | No |
ClinGen TOPMed |
|
|
CA394989525 rs1389964531 |
416 | P>R | No |
ClinGen gnomAD |
|
|
CA394989502 rs1288833673 |
418 | R>W | No |
ClinGen gnomAD |
|
|
CA394989464 rs1382602949 |
419 | P>L | No |
ClinGen TOPMed |
|
|
rs376015071 CA7942154 |
419 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs773740610 CA7942153 |
420 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs765624264 CA7942152 |
420 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs773740610 CA394989458 |
420 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7942150 COSM968088 rs138313327 |
421 | G>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA394989441 rs1191475267 |
421 | G>S | No |
ClinGen gnomAD |
|
|
CA394989416 rs1262318283 |
422 | I>N | No |
ClinGen gnomAD |
|
|
CA7942147 rs747215255 |
425 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs1197940417 CA394989325 |
426 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs9941182 CA7942122 CA394988717 |
428 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA279286096 rs919491103 |
430 | P>H | No |
ClinGen TOPMed |
|
| TCGA novel | 431 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754792595 CA7942120 |
431 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1474594076 CA394988661 |
433 | T>I | No |
ClinGen gnomAD |
|
|
CA394988655 rs1254693040 |
434 | A>P | No |
ClinGen gnomAD |
|
|
rs148478247 CA7942119 |
436 | N>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs375700760 CA7942117 |
438 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375700760 CA394988615 |
438 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144815187 CA7942116 COSM968086 |
438 | R>Q | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA394988604 rs1458157011 |
439 | G>E | No |
ClinGen TOPMed |
|
|
CA7942115 rs143364212 |
439 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7942113 rs754312471 |
440 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA7942114 rs757806676 |
440 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs139233971 CA7942112 |
442 | W>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs953257506 CA279286018 |
443 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs752945123 CA7942110 |
444 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs146841908 CA394988534 |
447 | R>L | No |
ClinGen ESP ExAC TOPMed |
|
|
rs146841908 CA7942108 |
447 | R>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
COSM557034 rs373308064 CA7942109 |
447 | R>W | lung Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs774547919 CA7942107 |
448 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA394988532 rs1327147337 |
448 | G>R | No |
ClinGen gnomAD |
|
|
rs771113405 CA7942106 |
449 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA394988527 rs1396481675 |
449 | I>V | No |
ClinGen gnomAD |
|
|
rs1460808972 CA394988519 |
450 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA7942105 rs761885757 |
451 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1470235810 CA394988499 |
453 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 453 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7942102 rs746837223 |
454 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7942099 rs370210894 |
457 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs745483452 CA7942098 |
457 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1596705536 CA394988450 |
459 | M>I | No |
ClinGen Ensembl |
|
|
CA394988453 rs1253088601 |
459 | M>K | No |
ClinGen TOPMed |
|
|
rs778431687 CA394988446 CA7942097 |
460 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756790937 CA7942096 |
460 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs753174483 CA7942093 |
461 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753174483 CA7942092 |
461 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7942094 rs143500332 |
461 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA394988438 rs1372022923 |
462 | A>E | No |
ClinGen gnomAD |
|
|
rs759851068 CA7942091 |
463 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394988435 rs1439939158 |
463 | D>N | No |
ClinGen gnomAD |
|
|
CA7942090 rs759851068 |
463 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7942088 rs766672467 |
464 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs773371368 CA7942085 |
465 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394988418 rs1156308484 |
465 | I>T | No |
ClinGen gnomAD |
|
|
rs1193351559 CA394988413 |
466 | I>T | No |
ClinGen gnomAD |
|
|
rs137967106 CA7942084 |
466 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs564317222 CA7942083 |
467 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775400530 CA7942082 |
467 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745635352 CA7942080 |
468 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs745635352 CA7942081 |
468 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1308425791 CA394988399 |
469 | S>G | No |
ClinGen TOPMed |
|
|
rs778558694 CA7942079 |
469 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs201174645 CA7942078 |
469 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 470 | G>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150327444 CA7942076 |
470 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA394988371 rs1233696935 |
471 | Y>* | No |
ClinGen gnomAD |
|
|
rs769442021 COSM3387268 CA7942041 |
472 | R>Q | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA7942042 rs140049721 |
472 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394988358 rs776142687 |
474 | G>E | No |
ClinGen ExAC TOPMed |
|
|
rs747629264 CA7942040 |
474 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7942039 rs776142687 |
474 | G>V | No |
ClinGen ExAC TOPMed |
|
|
CA7942038 rs372282906 |
475 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780603911 CA7942036 |
476 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7942037 rs747493032 |
476 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs746182733 CA7942034 |
477 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA279285278 rs143182245 |
478 | V>A | No |
ClinGen ESP |
|
|
CA7942032 rs779015163 |
478 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA7942029 rs777893505 |
481 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA394988320 rs1413906897 |
481 | A>T | No |
ClinGen TOPMed |
|
|
CA394988314 rs754959935 |
482 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279285253 rs867472451 |
483 | M>I | No |
ClinGen Ensembl |
|
|
rs1054968 CA394988301 |
484 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1054968 CA7942027 |
484 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7942026 rs766265299 |
484 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA394988287 rs750164112 |
486 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7942024 rs750164112 COSM41018 |
486 | P>S | Variant assessed as Somatic; 0.0 impact. central_nervous_system prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs761525079 CA394988281 |
487 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs368911272 CA7942023 |
487 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs761525079 CA7942022 |
487 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs776051048 CA7942021 |
488 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1468830730 CA394988274 |
489 | V>I | No |
ClinGen gnomAD |
|
|
CA394988267 rs1368898014 |
490 | E>Q | No |
ClinGen TOPMed |
|
|
rs370065320 CA394988258 |
491 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370065320 COSM1749462 CA7942019 |
491 | T>M | central_nervous_system urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs370065320 CA7942020 |
491 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA279285217 rs779346612 |
491 | T>S | No |
ClinGen Ensembl |
|
|
CA394988253 rs1307257296 |
492 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1318264569 CA394988257 |
492 | A>T | No |
ClinGen gnomAD |
|
|
rs746239696 CA7942016 |
494 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA394988238 rs1463270456 |
495 | S>G | No |
ClinGen TOPMed |
|
|
rs141153303 CA7942015 |
497 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 499 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA279285160 rs1000759195 |
499 | P>S | No |
ClinGen TOPMed |
|
|
rs1384941371 CA394988197 |
500 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1384941371 CA7942012 |
500 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA7942011 rs144083874 |
501 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7942010 rs777755060 |
501 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200676297 CA7941977 |
504 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7941976 rs199930809 |
506 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA394987087 rs1169723882 |
507 | A>P | No |
ClinGen gnomAD |
|
|
rs1188057789 CA394987033 |
508 | F>L | No |
ClinGen gnomAD |
|
|
rs774954451 CA7941975 |
508 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs1485110809 CA394987030 |
509 | V>L | No |
ClinGen gnomAD |
|
|
CA394986987 rs16970280 |
510 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM968082 CA394986992 rs1197904437 |
510 | I>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs766749039 CA7941974 |
510 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7941971 rs770071398 |
512 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM471429 CA7941970 rs761288312 |
513 | S>L | kidney skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA7941968 rs768750565 |
514 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 515 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199272295 CA394986778 COSM1708852 |
517 | S>F | Variant assessed as Somatic; impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA7941964 rs749172124 |
518 | H>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1708851 CA394986771 rs1392903741 |
518 | H>Y | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1476923493 CA394986734 |
519 | D>E | No |
ClinGen TOPMed |
|
|
CA394986715 rs1160172539 |
520 | P>Q | No |
ClinGen TOPMed |
|
|
CA7941963 rs777696334 |
521 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1463942827 CA394986666 |
522 | Q>* | No |
ClinGen gnomAD |
|
|
rs200623268 CA394986649 |
522 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767239503 CA7941960 |
524 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1420381414 CA394986567 |
526 | E>* | No |
ClinGen TOPMed |
|
|
CA394986562 rs1297704792 |
526 | E>V | No |
ClinGen TOPMed |
|
|
rs750977574 CA7941958 |
528 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227644276 CA394986491 |
529 | Q>* | No |
ClinGen gnomAD |
|
|
rs1388692759 CA394986479 |
529 | Q>H | No |
ClinGen TOPMed |
|
|
CA7941957 rs766915094 |
530 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA7941955 rs201732013 |
531 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765567644 CA7941954 |
534 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs762066109 CA394986405 |
535 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762066109 CA7941953 |
535 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150010732 CA7941952 |
537 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394986335 rs1239951542 |
538 | Y>* | No |
ClinGen gnomAD |
|
|
CA394986355 rs1567204239 |
538 | Y>H | No |
ClinGen Ensembl |
|
|
rs770957508 CA394986291 |
540 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139253186 CA7941949 |
540 | Y>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749159069 CA7941947 |
541 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7941945 rs769743008 |
543 | K>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7941946 rs769743008 |
543 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200472857 CA7941944 |
543 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7941918 rs757753780 |
544 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs907172356 CA279280833 |
544 | I>M | No |
ClinGen TOPMed |
|
|
CA394984988 rs757753780 |
544 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA7941917 rs754257526 |
545 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs940798708 CA279280827 |
546 | F>V | No |
ClinGen TOPMed |
|
|
rs1280724470 CA394984918 |
547 | V>D | No |
ClinGen gnomAD |
|
|
CA394984862 rs1424540541 |
548 | L>F | No |
ClinGen TOPMed |
|
|
rs1218461571 CA394984884 |
548 | L>V | No |
ClinGen gnomAD |
|
|
rs1191942535 CA394984829 CA394984832 |
549 | N>K | No |
ClinGen TOPMed |
|
|
CA394984824 rs1342748686 |
550 | L>M | No |
ClinGen gnomAD |
|
|
CA394984802 rs1271908597 |
550 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1271908597 CA394984818 |
550 | L>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs201364830 CA394984772 |
551 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7941912 rs201364830 |
551 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7941914 rs767730525 |
551 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767730525 CA7941913 |
551 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394984766 rs1416178027 |
552 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7941911 rs527482304 |
552 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA394984733 rs1482105927 |
553 | T>I | No |
ClinGen gnomAD |
|
|
CA394984743 rs1333875014 |
553 | T>S | No |
ClinGen gnomAD |
|
|
CA7941908 rs776541261 |
555 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA394984678 rs1227292593 |
555 | T>K | No |
ClinGen TOPMed |
|
|
rs1477784339 CA394984592 |
558 | I>T | No |
ClinGen gnomAD |
|
|
CA394984564 rs1421501941 |
559 | Q>L | No |
ClinGen gnomAD |
|
|
COSM1376403 rs373534792 CA7941907 |
560 | R>* | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
COSM1176956 CA7941906 rs369392849 |
560 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs775014510 CA7941905 |
561 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA394984526 rs1481662180 |
561 | T>I | No |
ClinGen Ensembl |
|
|
CA394984538 rs775014510 |
561 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481662180 CA394984528 |
561 | T>S | No |
ClinGen Ensembl |
|
|
CA7941900 rs374858896 COSM228641 |
564 | R>* | lung Variant assessed as Somatic; 0.0 impact. skin [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs374858896 CA394984459 |
564 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA394984419 rs1275698860 |
565 | D>E | No |
ClinGen gnomAD |
|
|
rs1317232711 CA394984431 |
565 | D>G | No |
ClinGen gnomAD |
|
|
CA394984442 rs1196234386 |
565 | D>Y | No |
ClinGen gnomAD |
|
|
rs778378804 CA7941899 |
566 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA7941898 rs757808803 |
567 | E>A | No |
ClinGen ExAC |
|
|
CA394984358 rs1446258886 |
568 | W>* | No |
ClinGen gnomAD |
|
| TCGA novel | 568 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778302119 CA7941896 |
568 | W>R | No |
ClinGen ExAC gnomAD |
|
|
CA7941895 rs756457705 |
570 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA7941893 rs767639030 |
571 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs753047992 CA7941894 |
571 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs562863484 CA7941891 |
572 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs766547463 CA7941890 |
573 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA7941888 rs150835748 |
575 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7941889 rs150835748 |
575 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7941887 COSM471428 rs371889197 |
575 | R>H | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs574115845 CA394984171 |
576 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM702473 rs574115845 CA7941885 |
576 | A>V | lung haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA394984162 rs1457229382 |
577 | Q>E | No |
ClinGen gnomAD |
|
|
rs376660236 CA7941882 |
577 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7941881 rs200061179 |
578 | Q>W | No |
ClinGen ExAC |
No associated diseases with Q68CK6
Functions
| Description | ||
|---|---|---|
| EC Number | 6.2.1.2 | Acid--thiol ligases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| mitochondrial matrix | The gel-like material, with considerable fine structure, that lies in the matrix space, or lumen, of a mitochondrion. It contains the enzymes of the tricarboxylic acid cycle and, in some organisms, the enzymes concerned with fatty acid oxidation. |
| mitochondrion | A semiautonomous, self replicating organelle that occurs in varying numbers, shapes, and sizes in the cytoplasm of virtually all eukaryotic cells. It is notably the site of tissue respiration. |
8 GO annotations of molecular function
| Name | Definition |
|---|---|
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| benzoate-CoA ligase activity | Catalysis of the reaction: ATP + benzoate + CoA = AMP + benzoyl-CoA + diphosphate. |
| butyrate-CoA ligase activity | Catalysis of the reaction: ATP + an acid + CoA = AMP + diphosphate + an acyl-CoA. |
| CoA-ligase activity | Catalysis of the reaction: substrate + ATP + CoASH = AMP + diphosphate + substrate-CoA. |
| decanoate-CoA ligase activity | Catalysis of the reaction: ATP + decanoate + CoA = AMP + diphosphate + decanoyl-CoA. |
| fatty acid ligase activity | Catalysis of the ligation of a fatty acid to an acceptor, coupled to the hydrolysis of ATP. |
| fatty-acyl-CoA synthase activity | Catalysis of the reaction: acetyl-CoA + n malonyl-CoA + 2n NADH + 2n NADPH + 4n H+ = a long-chain acyl-CoA + n CoA + n CO2 + 2n NAD+ + 2n NADP+. |
| metal ion binding | Binding to a metal ion. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| acyl-CoA metabolic process | The chemical reactions and pathways involving acyl-CoA, any derivative of coenzyme A in which the sulfhydryl group is in thiolester linkage with an acyl group. |
| fatty acid biosynthetic process | The chemical reactions and pathways resulting in the formation of a fatty acid, any of the aliphatic monocarboxylic acids that can be liberated by hydrolysis from naturally occurring fats and oils. Fatty acids are predominantly straight-chain acids of 4 to 24 carbon atoms, which may be saturated or unsaturated; branched fatty acids and hydroxy fatty acids also occur, and very long chain acids of over 30 carbons are found in waxes. |
| xenobiotic metabolic process | The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
8 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q9NR19 | ACSS2 | Acetyl-coenzyme A synthetase, cytoplasmic | Homo sapiens (Human) | PR |
| Q08AH3 | ACSM2A | Acyl-coenzyme A synthetase ACSM2A, mitochondrial | Homo sapiens (Human) | PR |
| Q9QXG4 | Acss2 | Acetyl-coenzyme A synthetase, cytoplasmic | Mus musculus (Mouse) | PR |
| Q9D2R0 | Aacs | Acetoacetyl-CoA synthetase | Mus musculus (Mouse) | PR |
| Q8K0L3 | Acsm2 | Acyl-coenzyme A synthetase ACSM2, mitochondrial | Mus musculus (Mouse) | PR |
| Q9JMI1 | Aacs | Acetoacetyl-CoA synthetase | Rattus norvegicus (Rat) | PR |
| O70490 | Acsm2 | Acyl-coenzyme A synthetase ACSM2, mitochondrial | Rattus norvegicus (Rat) | PR |
| Q84P17 | AAE18 | Probable acyl-activating enzyme 18, peroxisomal | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MHWLRKVQGL | CTLWGTQMSS | RTLYINSRQL | VSLQWGHQEV | PAKFNFASDV | LDHWADMEKA |
| 70 | 80 | 90 | 100 | 110 | 120 |
| GKRLPSPALW | WVNGKGKELM | WNFRELSENS | QQAANILSGA | CGLQRGDRVA | VMLPRVPEWW |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LVILGCIRAG | LIFMPGTIQM | KSTDILYRLQ | MSKAKAIVAG | DEVIQEVDTV | ASECPSLRIK |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LLVSEKSCDG | WLNFKKLLNE | ASTTHHCVET | GSQEASAIYF | TSGTSGLPKM | AEHSYSSLGL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KAKMDAGWTG | LQASDIMWTI | SDTGWILNIL | GSLLESWTLG | ACTFVHLLPK | FDPLVILKTL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SSYPIKSMMG | APIVYRMLLQ | QDLSSYKFPH | LQNCLAGGES | LLPETLENWR | AQTGLDIREF |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YGQTETGLTC | MVSKTMKIKP | GYMGTAASCY | DVQVIDDKGN | VLPPGTEGDI | GIRVKPIRPI |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GIFSGYVENP | DKTAANIRGD | FWLLGDRGIK | DEDGYFQFMG | RADDIINSSG | YRIGPSEVEN |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ALMKHPAVVE | TAVISSPDPV | RGEVVKAFVI | LASQFLSHDP | EQLTKELQQH | VKSVTAPYKY |
| 550 | 560 | 570 | |||
| PRKIEFVLNL | PKTVTGKIQR | TKLRDKEWKM | SGKARAQ |