Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C1252 |
Reference Plasmid |
NZ_CP143940.1 |
Reference Plasmid Size |
183781 |
Reference Plasmid GC Content |
0.57 |
Reference Plasmid Mobility Type |
non-mobilizable |
Mutation sites in the plasmid cluster
The table lists mutations identified in the plasmid cluster.
Note: Mutations identified in this plasmid cluster are listed below. Click on a mutation ID to view full details..
mutid |
gname |
pos |
count |
tissue |
frequnt |
biotype |
consequence |
impact |
nucchange |
aachange |
M0201054 |
NIMBOEME_00239 |
180692 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
988C>T |
Pro330Ser |
M0201055 |
NIMBOEME_00239 |
180695 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
991T>G |
Ser331Ala |
M0201056 |
NIMBOEME_00239 |
180700 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
996A>G |
Glu332Glu |
M0201057 |
NIMBOEME_00237 |
181078 |
4 |
Gut |
0.17 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*2177G>A |
None |
M0201058 |
NIMBOEME_00237 |
181125 |
3 |
Gut |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*2224G>A |
None |
M0201059 |
NIMBOEME_00240 |
181324 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
231C>T |
Asp77Asp |
M0201060 |
NIMBOEME_00240 |
181330 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
225T>C |
Asn75Asn |
M0201061 |
NIMBOEME_00240 |
181332 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
223A>C |
Asn75His |
M0201062 |
NIMBOEME_00240 |
181336 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
219G>A |
Gln73Gln |
M0201063 |
NIMBOEME_00240 |
181363 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
192A>G |
Thr64Thr |
M0201064 |
NIMBOEME_00137 |
104128 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4960C>T |
None |
M0201065 |
NIMBOEME_00137 |
104129 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4961T>C |
None |
M0201066 |
NIMBOEME_00137 |
104131 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4963T>C |
None |
M0201067 |
NIMBOEME_00137 |
104132 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4964T>G |
None |
M0201068 |
NIMBOEME_00138 |
104339 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3850G>A |
None |
M0201069 |
NIMBOEME_00138 |
104356 |
4 |
Gut |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3867T>A |
None |
M0201070 |
NIMBOEME_00138 |
104417 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3928G>A |
None |
M0201071 |
NIMBOEME_00162 |
105773 |
6 |
Gut |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2909A>G |
None |
M0201072 |
NIMBOEME_00162 |
106028 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2654A>C |
None |
M0201073 |
NIMBOEME_00162 |
106029 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2653C>T |
None |
M0201074 |
NIMBOEME_00162 |
106220 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2462G>A |
None |
M0201075 |
NIMBOEME_00162 |
107423 |
6 |
Gut |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1259A>G |
None |
M0201076 |
NIMBOEME_00162 |
107462 |
7 |
Gut |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1220A>G |
None |
M0201077 |
NIMBOEME_00162 |
107484 |
7 |
Gut |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1198A>C |
None |
M0201078 |
NIMBOEME_00162 |
107563 |
7 |
Gut |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1119A>G |
None |
M0201079 |
NIMBOEME_00162 |
108234 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-448G>A |
None |
M0201080 |
NIMBOEME_00162 |
108348 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-334A>G |
None |
M0201081 |
NIMBOEME_00162 |
108577 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-105A>C |
None |
M0201082 |
NIMBOEME_00162 |
108656 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-26G>A |
None |
M0201083 |
NIMBOEME_00162 |
108870 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
189G>C |
Val63Val |
M0201084 |
NIMBOEME_00162 |
108876 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
195G>A |
Lys65Lys |
M0201085 |
NIMBOEME_00162 |
108903 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
222T>C |
Leu74Leu |
M0201086 |
NIMBOEME_00162 |
108921 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
240T>C |
Ser80Ser |
M0201087 |
NIMBOEME_00162 |
108948 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
267T>C |
Tyr89Tyr |
M0201088 |
NIMBOEME_00162 |
108957 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
276C>T |
Tyr92Tyr |
M0201089 |
NIMBOEME_00162 |
108960 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
279T>C |
Pro93Pro |
M0201090 |
NIMBOEME_00162 |
108966 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
285G>A |
Leu95Leu |
M0201091 |
NIMBOEME_00162 |
109332 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
651T>C |
Phe217Phe |
M0201092 |
NIMBOEME_00162 |
109424 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
743A>G |
His248Arg |
M0201093 |
NIMBOEME_00162 |
109828 |
6 |
Gut |
0.26 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*169C>T |
None |
M0201094 |
NIMBOEME_00162 |
110185 |
6 |
Gut |
0.26 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*526C>A |
None |
M0201095 |
NIMBOEME_00162 |
110273 |
6 |
Gut |
0.26 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*614C>A |
None |
M0201096 |
NIMBOEME_00163 |
111429 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
629A>C |
Asn210Thr |
M0201097 |
NIMBOEME_00163 |
111466 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
592C>T |
Arg198Cys |
M0201098 |
NIMBOEME_00163 |
111468 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
590A>G |
Glu197Gly |
M0201099 |
NIMBOEME_00163 |
111635 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
423G>A |
Val141Val |
M0201100 |
NIMBOEME_00164 |
112114 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
123G>A |
Thr41Thr |
M0201101 |
NIMBOEME_00164 |
112159 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
78T>A |
Arg26Arg |
M0201102 |
NIMBOEME_00164 |
112170 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
67C>G |
Pro23Ala |
M0201103 |
NIMBOEME_00164 |
112171 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
66T>C |
Asn22Asn |
M0201104 |
NIMBOEME_00164 |
112189 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
48G>A |
Ala16Ala |
M0201105 |
NIMBOEME_00164 |
112201 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
36G>A |
Gln12Gln |
M0201106 |
NIMBOEME_00165 |
112244 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
100G>A |
Asp34Asn |
M0201107 |
NIMBOEME_00165 |
112254 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
90T>C |
Ser30Ser |
M0201108 |
NIMBOEME_00165 |
112266 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
78A>G |
Ser26Ser |
M0201109 |
NIMBOEME_00165 |
112320 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
24A>C |
Leu8Leu |
M0201110 |
NIMBOEME_00166 |
112468 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
135A>G |
Ala45Ala |
M0201111 |
NIMBOEME_00166 |
112546 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
57G>A |
Leu19Leu |
M0201112 |
NIMBOEME_00167 |
112625 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
163A>G |
Ile55Val |
M0201113 |
NIMBOEME_00167 |
112649 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
139G>A |
Ala47Thr |
M0201114 |
NIMBOEME_00167 |
112671 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
117C>T |
Arg39Arg |
M0201115 |
NIMBOEME_00167 |
112779 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
9C>A |
Val3Val |
M0201116 |
NIMBOEME_00168 |
112888 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
118C>T |
Leu40Leu |
M0201117 |
NIMBOEME_00170 |
113481 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
600G>T |
Arg200Arg |
M0201118 |
NIMBOEME_00170 |
113586 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
495A>G |
Ala165Ala |
M0201119 |
NIMBOEME_00171 |
114265 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
1453G>A |
Ala485Thr |
M0201120 |
NIMBOEME_00171 |
115160 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
558T>G |
Arg186Arg |
M0201121 |
NIMBOEME_00171 |
115163 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
555A>C |
Ala185Ala |
M0201122 |
NIMBOEME_00171 |
115166 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
552G>A |
Gln184Gln |
M0201123 |
NIMBOEME_00171 |
115451 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
267A>G |
Ala89Ala |
M0201124 |
NIMBOEME_00171 |
115531 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
187A>G |
Ser63Gly |
M0201125 |
NIMBOEME_00171 |
115676 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
42T>C |
Gly14Gly |
M0201126 |
NIMBOEME_00171 |
115706 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
12A>T |
Thr4Thr |
M0201127 |
NIMBOEME_00172 |
115905 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
160T>A |
Phe54Ile |
M0201128 |
NIMBOEME_00172 |
115944 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
121A>G |
Ile41Val |
M0201129 |
NIMBOEME_00172 |
116033 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
32C>T |
Ala11Val |
M0201130 |
NIMBOEME_00173 |
116070 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1038A>G |
Arg346Arg |
M0201131 |
NIMBOEME_00173 |
116169 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
939C>T |
His313His |
M0201132 |
NIMBOEME_00173 |
116502 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
606C>T |
Ser202Ser |
M0201133 |
NIMBOEME_00173 |
116631 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
477T>C |
Thr159Thr |
M0201134 |
NIMBOEME_00173 |
116851 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
257C>G |
Ala86Gly |
M0201135 |
NIMBOEME_00173 |
117037 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
71G>A |
Gly24Glu |
M0201136 |
NIMBOEME_00173 |
117042 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
66G>A |
Lys22Lys |
M0201137 |
NIMBOEME_00173 |
117058 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
50G>A |
Arg17Lys |
M0201138 |
NIMBOEME_00173 |
117066 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
42C>T |
Asn14Asn |
M0201139 |
NIMBOEME_00174 |
117339 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
816T>C |
Asp272Asp |
M0201140 |
NIMBOEME_00174 |
117414 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
741G>A |
Ala247Ala |
M0201141 |
NIMBOEME_00174 |
117420 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
735T>C |
Arg245Arg |
M0201142 |
NIMBOEME_00174 |
117474 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
681G>T |
Pro227Pro |
M0201143 |
NIMBOEME_00174 |
117497 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
658T>A |
Ser220Thr |
M0201144 |
NIMBOEME_00174 |
117501 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
654G>A |
Glu218Glu |
M0201145 |
NIMBOEME_00174 |
117507 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
648G>A |
Val216Val |
M0201146 |
NIMBOEME_00174 |
117540 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
615G>A |
Gly205Gly |
M0201147 |
NIMBOEME_00174 |
117645 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
510T>C |
Asp170Asp |
M0201148 |
NIMBOEME_00174 |
117691 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
464T>C |
Val155Ala |
M0201149 |
NIMBOEME_00174 |
117693 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
462C>T |
Pro154Pro |
M0201150 |
NIMBOEME_00175 |
118577 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
301T>C |
Leu101Leu |
M0201151 |
NIMBOEME_00176 |
120130 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
980A>G |
His327Arg |
M0201152 |
NIMBOEME_00176 |
120174 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
1024A>G |
Ile342Val |
M0201153 |
NIMBOEME_00176 |
120257 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1107C>T |
Arg369Arg |
M0201154 |
NIMBOEME_00176 |
120311 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1161C>T |
Tyr387Tyr |
M0201155 |
NIMBOEME_00171 |
120329 |
6 |
Gut |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4612G>C |
None |
M0201156 |
NIMBOEME_00171 |
120356 |
6 |
Gut |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4639C>G |
None |
M0201157 |
NIMBOEME_00171 |
120357 |
6 |
Gut |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4640C>T |
None |
M0201158 |
NIMBOEME_00171 |
120358 |
6 |
Gut |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4641A>T |
None |
M0201159 |
NIMBOEME_00177 |
120419 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
2225C>T |
Thr742Met |
M0201160 |
NIMBOEME_00177 |
120444 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
2200A>G |
Ile734Val |
M0201161 |
NIMBOEME_00177 |
121328 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
1316G>C |
Arg439Pro |
M0201162 |
NIMBOEME_00177 |
121657 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
987G>A |
Gln329Gln |
M0201163 |
NIMBOEME_00177 |
122247 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
397C>T |
Pro133Ser |
M0201164 |
NIMBOEME_00177 |
122443 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
201A>G |
Val67Val |
M0201165 |
NIMBOEME_00177 |
122544 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
100A>G |
Asn34Asp |
M0201166 |
NIMBOEME_00177 |
122608 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
36A>G |
Gly12Gly |
M0201167 |
NIMBOEME_00178 |
122906 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1600T>C |
Leu534Leu |
M0201168 |
NIMBOEME_00178 |
123838 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
668A>G |
Asp223Gly |
M0201169 |
NIMBOEME_00179 |
124647 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
578C>T |
Ala193Val |
M0201170 |
NIMBOEME_00179 |
124674 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
551G>A |
Gly184Asp |
M0201171 |
NIMBOEME_00179 |
124694 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
531C>T |
Phe177Phe |
M0201172 |
NIMBOEME_00179 |
124823 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
402A>G |
Glu134Glu |
M0201173 |
NIMBOEME_00179 |
124842 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
383G>A |
Gly128Asp |
M0201174 |
NIMBOEME_00179 |
124843 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
382G>A |
Gly128Ser |
M0201175 |
NIMBOEME_00179 |
124850 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
375A>G |
Leu125Leu |
M0201176 |
NIMBOEME_00179 |
124866 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
359C>T |
Pro120Leu |
M0201177 |
NIMBOEME_00179 |
124869 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
356C>A |
Ser119Tyr |
M0201178 |
NIMBOEME_00179 |
124927 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
298A>G |
Ile100Val |
M0201179 |
NIMBOEME_00179 |
125048 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
177C>T |
Asp59Asp |
M0201180 |
NIMBOEME_00179 |
125053 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
172C>T |
Arg58Trp |
M0201181 |
NIMBOEME_00179 |
125085 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
140A>C |
Gln47Pro |
M0201182 |
NIMBOEME_00179 |
125086 |
5 |
Gut |
0.22 |
protein_coding |
stop_gained |
HIGH |
139C>T |
Gln47* |
M0201183 |
NIMBOEME_00179 |
125117 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
108A>G |
Ile36Met |
M0201184 |
NIMBOEME_00179 |
125210 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
15A>G |
Leu5Leu |
M0201185 |
NIMBOEME_00180 |
125570 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
3078C>T |
Arg1026Arg |
M0201186 |
NIMBOEME_00180 |
125672 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
2976T>C |
Gly992Gly |
M0201187 |
NIMBOEME_00180 |
127362 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
1286C>T |
Ala429Val |
M0201188 |
NIMBOEME_00180 |
127964 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
684C>T |
Gly228Gly |
M0201189 |
NIMBOEME_00180 |
127967 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
681C>T |
Asp227Asp |
M0201190 |
NIMBOEME_00180 |
128006 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
642G>A |
Arg214Arg |
M0201191 |
NIMBOEME_00180 |
128147 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
501T>C |
Ser167Ser |
M0201192 |
NIMBOEME_00180 |
128312 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
336A>G |
Leu112Leu |
M0201193 |
NIMBOEME_00180 |
128360 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
288A>T |
Arg96Arg |
M0201194 |
NIMBOEME_00180 |
128387 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
261G>T |
Met87Ile |
M0201195 |
NIMBOEME_00180 |
128390 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
258C>T |
Leu86Leu |
M0201196 |
NIMBOEME_00180 |
128435 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
213A>G |
Lys71Lys |
M0201197 |
NIMBOEME_00180 |
128594 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
54T>C |
Gly18Gly |
M0201198 |
NIMBOEME_00178 |
128652 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4147A>C |
None |
M0201199 |
NIMBOEME_00181 |
128674 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
314G>A |
Ser105Asn |
M0201200 |
NIMBOEME_00181 |
128710 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
278C>T |
Pro93Leu |
M0201201 |
NIMBOEME_00181 |
128715 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
273T>C |
Phe91Phe |
M0201202 |
NIMBOEME_00181 |
128732 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
256A>G |
Arg86Gly |
M0201203 |
NIMBOEME_00185 |
133442 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
889G>T |
Val297Leu |
M0201204 |
NIMBOEME_00185 |
133443 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
890T>C |
Val297Ala |
M0201205 |
NIMBOEME_00186 |
134021 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
354T>C |
Asp118Asp |
M0201206 |
NIMBOEME_00186 |
134287 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
620G>C |
Gly207Ala |
M0201207 |
NIMBOEME_00191 |
138054 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
240A>C |
Ile80Ile |
M0201208 |
NIMBOEME_00191 |
138055 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
241C>A |
Gln81Lys |
M0201209 |
NIMBOEME_00191 |
138589 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
775C>T |
Leu259Leu |
M0201210 |
NIMBOEME_00191 |
138642 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
828C>A |
Gly276Gly |
M0201211 |
NIMBOEME_00191 |
138646 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
832G>A |
Ala278Thr |
M0201212 |
NIMBOEME_00192 |
138918 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1128G>A |
Lys376Lys |
M0201213 |
NIMBOEME_00192 |
138919 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
1127A>G |
Lys376Arg |
M0201214 |
NIMBOEME_00192 |
139000 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
1046A>T |
Tyr349Phe |
M0201215 |
NIMBOEME_00192 |
139428 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
618C>T |
Tyr206Tyr |
M0201216 |
NIMBOEME_00192 |
139818 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
228T>C |
Ser76Ser |
M0201217 |
NIMBOEME_00193 |
140234 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
678G>A |
Lys226Lys |
M0201218 |
NIMBOEME_00193 |
140236 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
676A>G |
Lys226Glu |
M0201219 |
NIMBOEME_00193 |
140439 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
473T>A |
Phe158Tyr |
M0201220 |
NIMBOEME_00193 |
140441 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
471T>A |
Ala157Ala |
M0201221 |
NIMBOEME_00193 |
140695 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
217A>G |
Thr73Ala |
M0201222 |
NIMBOEME_00193 |
140732 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
180T>C |
Tyr60Tyr |
M0201223 |
NIMBOEME_00194 |
141032 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
4206A>G |
Gly1402Gly |
M0201224 |
NIMBOEME_00198 |
147095 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
305T>C |
Val102Ala |
M0201225 |
NIMBOEME_00198 |
147155 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
245C>T |
Ala82Val |
M0201226 |
NIMBOEME_00198 |
147364 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
36T>G |
Gly12Gly |
M0201227 |
NIMBOEME_00198 |
147377 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
23A>G |
Asp8Gly |
M0201228 |
NIMBOEME_00199 |
147612 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
114C>T |
Gly38Gly |
M0201229 |
NIMBOEME_00199 |
147669 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
57T>C |
Asp19Asp |
M0201230 |
NIMBOEME_00199 |
147690 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
36T>C |
Ile12Ile |
M0201231 |
NIMBOEME_00194 |
147738 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2501A>G |
None |
M0201232 |
NIMBOEME_00194 |
147746 |
4 |
Gut |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2509G>C |
None |
M0201233 |
NIMBOEME_00099 |
75921 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
966C>T |
Tyr322Tyr |
M0201234 |
NIMBOEME_00099 |
75933 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
978C>A |
Ala326Ala |
M0201235 |
NIMBOEME_00099 |
76017 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1062A>G |
Gln354Gln |
M0201236 |
NIMBOEME_00100 |
76205 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
141T>C |
Arg47Arg |
M0201237 |
NIMBOEME_00100 |
76262 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
198G>A |
Thr66Thr |
M0201238 |
NIMBOEME_00100 |
76536 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
472A>G |
Ile158Val |
M0201239 |
NIMBOEME_00100 |
76613 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
549C>T |
Asn183Asn |
M0201240 |
NIMBOEME_00100 |
76616 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
552C>T |
Ala184Ala |
M0201241 |
NIMBOEME_00100 |
76619 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
555C>T |
Ile185Ile |
M0201242 |
NIMBOEME_00025 |
26546 |
6 |
Gut |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4777A>C |
None |
M0201243 |
NIMBOEME_00025 |
26550 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4781C>T |
None |
M0201244 |
NIMBOEME_00025 |
26556 |
6 |
Gut |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4787T>A |
None |
M0201245 |
NIMBOEME_00025 |
26579 |
4 |
Gut |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4810T>A |
None |
M0201246 |
NIMBOEME_00034 |
26648 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1476G>A |
Thr492Thr |
M0201247 |
NIMBOEME_00034 |
27152 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
972T>C |
Val324Val |
M0201248 |
NIMBOEME_00034 |
27160 |
7 |
Gut |
0.30 |
protein_coding |
missense_variant |
MODERATE |
964A>G |
Ile322Val |
M0201249 |
NIMBOEME_00034 |
27297 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
827A>C |
Asp276Ala |
M0201250 |
NIMBOEME_00034 |
27326 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
798C>G |
Thr266Thr |
M0201251 |
NIMBOEME_00034 |
27361 |
7 |
Gut |
0.30 |
protein_coding |
missense_variant |
MODERATE |
763A>G |
Thr255Ala |
M0201252 |
NIMBOEME_00034 |
27376 |
7 |
Gut |
0.30 |
protein_coding |
missense_variant |
MODERATE |
748G>A |
Gly250Ser |
M0201253 |
NIMBOEME_00034 |
27570 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
554C>A |
Thr185Lys |
M0201254 |
NIMBOEME_00034 |
27839 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
285G>A |
Ala95Ala |
M0201255 |
NIMBOEME_00034 |
27869 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
255A>C |
Gly85Gly |
M0201256 |
NIMBOEME_00034 |
27873 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
251T>A |
Phe84Tyr |
M0201257 |
NIMBOEME_00035 |
29562 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
989G>A |
Arg330Lys |
M0201258 |
NIMBOEME_00035 |
29829 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
722C>A |
Thr241Asn |
M0201259 |
NIMBOEME_00035 |
29863 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
688G>A |
Asp230Asn |
M0201260 |
NIMBOEME_00035 |
29897 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
654T>G |
His218Gln |
M0201261 |
NIMBOEME_00035 |
30157 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
394C>T |
Leu132Leu |
M0201262 |
NIMBOEME_00035 |
30249 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
302A>T |
Asn101Ile |
M0201263 |
NIMBOEME_00035 |
30327 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
224G>A |
Gly75Asp |
M0201264 |
NIMBOEME_00035 |
30329 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
222T>C |
Gly74Gly |
M0201265 |
NIMBOEME_00035 |
30404 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
147T>C |
Ser49Ser |
M0201266 |
NIMBOEME_00035 |
30406 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
145T>G |
Ser49Ala |
M0201267 |
NIMBOEME_00035 |
30410 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
141T>C |
Asn47Asn |
M0201268 |
NIMBOEME_00035 |
30411 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
140A>G |
Asn47Ser |
M0201269 |
NIMBOEME_00035 |
30414 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
137G>C |
Ser46Thr |
M0201270 |
NIMBOEME_00035 |
30511 |
7 |
Gut |
0.30 |
protein_coding |
missense_variant |
MODERATE |
40G>A |
Ala14Thr |
M0201271 |
NIMBOEME_00035 |
30518 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
33C>T |
Asn11Asn |
M0201272 |
NIMBOEME_00034 |
30691 |
7 |
Gut |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2568C>T |
None |
M0201273 |
NIMBOEME_00038 |
31845 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1151C>T |
Thr384Met |
M0201274 |
NIMBOEME_00038 |
31846 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
1150A>G |
Thr384Ala |
M0201275 |
NIMBOEME_00038 |
32242 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
754G>A |
Glu252Lys |
M0201276 |
NIMBOEME_00040 |
33939 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
514C>T |
Leu172Leu |
M0201277 |
NIMBOEME_00040 |
33941 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
516A>G |
Leu172Leu |
M0201278 |
NIMBOEME_00041 |
34070 |
7 |
Gut |
0.30 |
protein_coding |
start_lost |
HIGH |
1A>G |
Met1? |
M0201279 |
NIMBOEME_00041 |
34126 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
57T>C |
Tyr19Tyr |
M0201280 |
NIMBOEME_00041 |
34129 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
60A>G |
Glu20Glu |
M0201281 |
NIMBOEME_00041 |
34177 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
108T>C |
Ala36Ala |
M0201282 |
NIMBOEME_00041 |
34186 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
117T>C |
Asp39Asp |
M0201283 |
NIMBOEME_00041 |
34217 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
148G>A |
Val50Ile |
M0201284 |
NIMBOEME_00044 |
36793 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
651G>A |
Leu217Leu |
M0201285 |
NIMBOEME_00044 |
36876 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
568T>C |
Ser190Pro |
M0201286 |
NIMBOEME_00044 |
36990 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
454A>G |
Ile152Val |
M0201287 |
NIMBOEME_00044 |
36994 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
450T>A |
Asp150Glu |
M0201288 |
NIMBOEME_00044 |
36998 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
446A>G |
Asp149Gly |
M0201289 |
NIMBOEME_00044 |
37130 |
7 |
Gut |
0.30 |
protein_coding |
missense_variant |
MODERATE |
314G>T |
Trp105Leu |
M0201290 |
NIMBOEME_00044 |
37131 |
7 |
Gut |
0.30 |
protein_coding |
missense_variant |
MODERATE |
313T>A |
Trp105Arg |
M0201291 |
NIMBOEME_00038 |
37467 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4472T>C |
None |
M0201292 |
NIMBOEME_00045 |
37696 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
292A>G |
Ser98Gly |
M0201293 |
NIMBOEME_00045 |
37715 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
273G>A |
Ser91Ser |
M0201294 |
NIMBOEME_00045 |
37717 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
271T>G |
Ser91Ala |
M0201295 |
NIMBOEME_00045 |
37718 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
270A>G |
Ser90Ser |
M0201296 |
NIMBOEME_00045 |
37720 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
268T>C |
Ser90Pro |
M0201297 |
NIMBOEME_00045 |
37721 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
267G>A |
Lys89Lys |
M0201298 |
NIMBOEME_00045 |
37733 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
255G>A |
Thr85Thr |
M0201299 |
NIMBOEME_00045 |
37850 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
138A>C |
Ser46Ser |
M0201300 |
NIMBOEME_00046 |
38292 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
57C>T |
Ile19Ile |
M0201301 |
NIMBOEME_00046 |
38309 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
40G>A |
Glu14Lys |
M0201302 |
NIMBOEME_00046 |
38312 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
37A>G |
Lys13Glu |
M0201303 |
NIMBOEME_00047 |
38576 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
67A>G |
Lys23Glu |
M0201304 |
NIMBOEME_00048 |
38924 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
45C>T |
Ile15Ile |
M0201305 |
NIMBOEME_00048 |
38931 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
38A>G |
Lys13Arg |
M0201306 |
NIMBOEME_00049 |
39268 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
105A>G |
Ala35Ala |
M0201307 |
NIMBOEME_00052 |
40352 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
371G>A |
Gly124Glu |
M0201308 |
NIMBOEME_00053 |
40826 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
225A>C |
Gly75Gly |
M0201309 |
NIMBOEME_00054 |
41113 |
4 |
Gut |
0.17 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
355T>C |
Ter119Argext*? |
M0201310 |
NIMBOEME_00054 |
41433 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
35G>T |
Arg12Leu |
M0201311 |
NIMBOEME_00044 |
41860 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4417A>G |
None |
M0201312 |
NIMBOEME_00044 |
41863 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4420G>T |
None |
M0201313 |
NIMBOEME_00044 |
41872 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4429C>T |
None |
M0201314 |
NIMBOEME_00044 |
41877 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4434G>A |
None |
M0201315 |
NIMBOEME_00056 |
42113 |
7 |
Gut |
0.30 |
protein_coding |
missense_variant |
MODERATE |
94G>T |
Ala32Ser |
M0201316 |
NIMBOEME_00057 |
42519 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
960A>G |
Gly320Gly |
M0201317 |
NIMBOEME_00057 |
42522 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
957T>C |
Ile319Ile |
M0201318 |
NIMBOEME_00057 |
42543 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
936C>T |
Ser312Ser |
M0201319 |
NIMBOEME_00057 |
42621 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
858A>G |
Pro286Pro |
M0201320 |
NIMBOEME_00057 |
42729 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
750A>G |
Gln250Gln |
M0201321 |
NIMBOEME_00057 |
43406 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
73A>G |
Thr25Ala |
M0201322 |
NIMBOEME_00059 |
43647 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1206A>G |
Gln402Gln |
M0201323 |
NIMBOEME_00059 |
43810 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1043A>G |
Asn348Ser |
M0201324 |
NIMBOEME_00060 |
45047 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
312T>C |
Ala104Ala |
M0201325 |
NIMBOEME_00061 |
45936 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
96A>G |
Arg32Arg |
M0201326 |
NIMBOEME_00061 |
45957 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
75T>C |
Leu25Leu |
M0201327 |
NIMBOEME_00062 |
46402 |
9 |
Gut |
0.39 |
protein_coding |
synonymous_variant |
LOW |
199T>C |
Leu67Leu |
M0201328 |
NIMBOEME_00062 |
46466 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
135C>A |
Val45Val |
M0201329 |
NIMBOEME_00062 |
46473 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
128G>T |
Gly43Val |
M0201330 |
NIMBOEME_00063 |
47013 |
8 |
Gut |
0.35 |
protein_coding |
missense_variant |
MODERATE |
2830T>C |
Phe944Leu |
M0201331 |
NIMBOEME_00063 |
47320 |
9 |
Gut |
0.39 |
protein_coding |
synonymous_variant |
LOW |
2523T>C |
Ser841Ser |
M0201332 |
NIMBOEME_00063 |
48219 |
8 |
Gut |
0.35 |
protein_coding |
missense_variant |
MODERATE |
1624A>G |
Asn542Asp |
M0201333 |
NIMBOEME_00063 |
48670 |
8 |
Gut |
0.35 |
protein_coding |
synonymous_variant |
LOW |
1173T>C |
Asn391Asn |
M0201334 |
NIMBOEME_00063 |
48752 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
1091G>A |
Ser364Asn |
M0201335 |
NIMBOEME_00063 |
48753 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
1090A>G |
Ser364Gly |
M0201336 |
NIMBOEME_00063 |
49257 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
586T>C |
Leu196Leu |
M0201337 |
NIMBOEME_00063 |
49258 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
585A>G |
Val195Val |
M0201338 |
NIMBOEME_00063 |
49261 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
582G>A |
Thr194Thr |
M0201339 |
NIMBOEME_00063 |
49360 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
483T>A |
Ile161Ile |
M0201340 |
NIMBOEME_00063 |
49363 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
480C>A |
Gly160Gly |
M0201341 |
NIMBOEME_00063 |
49366 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
477C>T |
Gly159Gly |
M0201342 |
NIMBOEME_00063 |
49462 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
381G>T |
Ser127Ser |
M0201343 |
NIMBOEME_00063 |
49465 |
7 |
Gut |
0.30 |
protein_coding |
missense_variant |
MODERATE |
378G>T |
Leu126Phe |
M0201344 |
NIMBOEME_00063 |
49467 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
376T>C |
Leu126Leu |
M0201345 |
NIMBOEME_00063 |
49472 |
7 |
Gut |
0.30 |
protein_coding |
missense_variant |
MODERATE |
371G>C |
Cys124Ser |
M0201346 |
NIMBOEME_00063 |
49474 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
369G>A |
Ser123Ser |
M0201347 |
NIMBOEME_00063 |
49489 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
354G>A |
Thr118Thr |
M0201348 |
NIMBOEME_00063 |
49522 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
321G>A |
Arg107Arg |
M0201349 |
NIMBOEME_00063 |
49525 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
318G>A |
Thr106Thr |
M0201350 |
NIMBOEME_00063 |
49542 |
7 |
Gut |
0.30 |
protein_coding |
missense_variant |
MODERATE |
301A>C |
Met101Leu |
M0201351 |
NIMBOEME_00063 |
49560 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
283A>C |
Ile95Leu |
M0201352 |
NIMBOEME_00063 |
49564 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
279T>A |
Gly93Gly |
M0201353 |
NIMBOEME_00063 |
49567 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
276T>C |
Leu92Leu |
M0201354 |
NIMBOEME_00063 |
49569 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
274C>A |
Leu92Ile |
M0201355 |
NIMBOEME_00063 |
49570 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
273C>T |
Ile91Ile |
M0201356 |
NIMBOEME_00063 |
49612 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
231T>C |
Asn77Asn |
M0201357 |
NIMBOEME_00063 |
49690 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
153T>C |
Ser51Ser |
M0201358 |
NIMBOEME_00063 |
49696 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
147T>C |
Gly49Gly |
M0201359 |
NIMBOEME_00063 |
49699 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
144C>A |
Gly48Gly |
M0201360 |
NIMBOEME_00064 |
49873 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
371A>G |
His124Arg |
M0201361 |
NIMBOEME_00064 |
49941 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
303C>T |
Leu101Leu |
M0201362 |
NIMBOEME_00064 |
50001 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
243A>G |
Ala81Ala |
M0201363 |
NIMBOEME_00065 |
50286 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
321T>C |
Ser107Ser |
M0201364 |
NIMBOEME_00065 |
50334 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
273C>T |
Ile91Ile |
M0201365 |
NIMBOEME_00061 |
50734 |
7 |
Gut |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4703T>C |
None |
M0201366 |
NIMBOEME_00061 |
50739 |
7 |
Gut |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4708C>T |
None |
M0201367 |
NIMBOEME_00061 |
50764 |
7 |
Gut |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4733C>T |
None |
M0201368 |
NIMBOEME_00066 |
50970 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
2451A>G |
Ala817Ala |
M0201369 |
NIMBOEME_00066 |
51084 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
2337T>C |
Phe779Phe |
M0201370 |
NIMBOEME_00066 |
51123 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
2298G>T |
Leu766Leu |
M0201371 |
NIMBOEME_00066 |
51282 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
2139A>G |
Glu713Glu |
M0201372 |
NIMBOEME_00066 |
52032 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
1389G>A |
Gly463Gly |
M0201373 |
NIMBOEME_00066 |
52239 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1182C>T |
Asp394Asp |
M0201374 |
NIMBOEME_00066 |
52307 |
7 |
Gut |
0.30 |
protein_coding |
missense_variant |
MODERATE |
1114A>G |
Ile372Val |
M0201375 |
NIMBOEME_00066 |
52488 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
933T>C |
Thr311Thr |
M0201376 |
NIMBOEME_00066 |
53123 |
8 |
Gut |
0.35 |
protein_coding |
synonymous_variant |
LOW |
298C>T |
Leu100Leu |
M0201377 |
NIMBOEME_00066 |
53271 |
8 |
Gut |
0.35 |
protein_coding |
synonymous_variant |
LOW |
150C>T |
Arg50Arg |
M0201378 |
NIMBOEME_00066 |
53290 |
8 |
Gut |
0.35 |
protein_coding |
missense_variant |
MODERATE |
131C>T |
Ala44Val |
M0201379 |
NIMBOEME_00067 |
53515 |
8 |
Gut |
0.35 |
protein_coding |
missense_variant |
MODERATE |
377T>C |
Ile126Thr |
M0201380 |
NIMBOEME_00067 |
53559 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
333T>C |
Arg111Arg |
M0201381 |
NIMBOEME_00068 |
54279 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
799C>T |
Leu267Leu |
M0201382 |
NIMBOEME_00069 |
55487 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
741C>T |
Asp247Asp |
M0201383 |
NIMBOEME_00069 |
55513 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
715C>T |
Leu239Leu |
M0201384 |
NIMBOEME_00066 |
56443 |
8 |
Gut |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3023G>T |
None |
M0201385 |
NIMBOEME_00066 |
56620 |
6 |
Gut |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3200G>A |
None |
M0201386 |
NIMBOEME_00066 |
56641 |
6 |
Gut |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3221G>A |
None |
M0201387 |
NIMBOEME_00066 |
56749 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3329C>T |
None |
M0201388 |
NIMBOEME_00070 |
56920 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
51A>G |
Pro17Pro |
M0201389 |
NIMBOEME_00070 |
56994 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
125A>G |
Asp42Gly |
M0201390 |
NIMBOEME_00070 |
57040 |
8 |
Gut |
0.35 |
protein_coding |
synonymous_variant |
LOW |
171T>C |
Val57Val |
M0201391 |
NIMBOEME_00073 |
58843 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
392G>A |
Gly131Asp |
M0201392 |
NIMBOEME_00073 |
59158 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
77G>A |
Gly26Asp |
M0201393 |
NIMBOEME_00073 |
59164 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
71G>A |
Arg24His |
M0201394 |
NIMBOEME_00073 |
59166 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
69G>A |
Glu23Glu |
M0201395 |
NIMBOEME_00073 |
59182 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
53C>T |
Pro18Leu |
M0201396 |
NIMBOEME_00074 |
59672 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
174C>T |
Gly58Gly |
M0201397 |
NIMBOEME_00074 |
59747 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
249A>C |
Leu83Leu |
M0201398 |
NIMBOEME_00074 |
59799 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
301G>A |
Gly101Arg |
M0201399 |
NIMBOEME_00075 |
60236 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
60A>G |
Pro20Pro |
M0201400 |
NIMBOEME_00076 |
60560 |
7 |
Gut |
0.30 |
protein_coding |
missense_variant |
MODERATE |
127A>G |
Asn43Asp |
M0201401 |
NIMBOEME_00081 |
62111 |
8 |
Gut |
0.35 |
protein_coding |
synonymous_variant |
LOW |
285C>T |
Ala95Ala |
M0201402 |
NIMBOEME_00081 |
62244 |
8 |
Gut |
0.35 |
protein_coding |
missense_variant |
MODERATE |
418A>G |
Ser140Gly |
M0201403 |
NIMBOEME_00081 |
62514 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
688A>G |
Asn230Asp |
M0201404 |
NIMBOEME_00081 |
62538 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
712C>T |
Leu238Leu |
M0201405 |
NIMBOEME_00081 |
62673 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
847A>G |
Lys283Glu |
M0201406 |
NIMBOEME_00081 |
62804 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
978T>C |
Ser326Ser |
M0201407 |
NIMBOEME_00081 |
62873 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1047G>A |
Lys349Lys |
M0201408 |
NIMBOEME_00081 |
62876 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1050A>G |
Glu350Glu |
M0201409 |
NIMBOEME_00081 |
62942 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1116A>G |
Val372Val |
M0201410 |
NIMBOEME_00081 |
63149 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
1323A>C |
Glu441Asp |
M0201411 |
NIMBOEME_00082 |
63628 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
432G>A |
Thr144Thr |
M0201412 |
NIMBOEME_00082 |
63748 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
552T>C |
Leu184Leu |
M0201413 |
NIMBOEME_00082 |
63785 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
589G>A |
Asp197Asn |
M0201414 |
NIMBOEME_00082 |
63814 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
618T>C |
Gly206Gly |
M0201415 |
NIMBOEME_00082 |
64011 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
815T>G |
Leu272Arg |
M0201416 |
NIMBOEME_00073 |
64028 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4794C>T |
None |
M0201417 |
NIMBOEME_00083 |
64118 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
42G>A |
Glu14Glu |
M0201418 |
NIMBOEME_00083 |
64124 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
48A>G |
Gly16Gly |
M0201419 |
NIMBOEME_00083 |
64126 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
50G>C |
Ser17Thr |
M0201420 |
NIMBOEME_00083 |
64130 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
54G>A |
Arg18Arg |
M0201421 |
NIMBOEME_00083 |
64175 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
99C>T |
Pro33Pro |
M0201422 |
NIMBOEME_00083 |
64230 |
7 |
Gut |
0.30 |
protein_coding |
missense_variant |
MODERATE |
154A>G |
Ile52Val |
M0201423 |
NIMBOEME_00083 |
64367 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
291T>G |
Pro97Pro |
M0201424 |
NIMBOEME_00084 |
64622 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
136A>C |
Lys46Gln |
M0201425 |
NIMBOEME_00084 |
64822 |
8 |
Gut |
0.35 |
protein_coding |
synonymous_variant |
LOW |
336A>C |
Gly112Gly |
M0201426 |
NIMBOEME_00034 |
27062 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1062C>T |
Val354Val |
M0201427 |
NIMBOEME_00034 |
27068 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1056G>C |
Ala352Ala |
M0201428 |
NIMBOEME_00034 |
27071 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1053C>A |
Thr351Thr |
M0201429 |
NIMBOEME_00034 |
27072 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1052C>T |
Thr351Ile |
M0201430 |
NIMBOEME_00034 |
27073 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1051A>G |
Thr351Ala |
M0201431 |
NIMBOEME_00034 |
27092 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1032G>A |
Val344Val |
M0201432 |
NIMBOEME_00034 |
27093 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1031T>C |
Val344Ala |
M0201433 |
NIMBOEME_00034 |
27901 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
223G>A |
Gly75Arg |
M0201434 |
NIMBOEME_00034 |
27960 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
164A>C |
Glu55Ala |
M0201435 |
NIMBOEME_00034 |
28028 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
96G>A |
Ser32Ser |
M0201436 |
NIMBOEME_00034 |
28060 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
64G>A |
Val22Met |
M0201437 |
NIMBOEME_00034 |
28094 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
30G>A |
Ala10Ala |
M0201438 |
NIMBOEME_00030 |
28163 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4645G>A |
None |
M0201439 |
NIMBOEME_00030 |
28179 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4661T>A |
None |
M0201440 |
NIMBOEME_00030 |
28199 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4681C>A |
None |
M0201441 |
NIMBOEME_00030 |
28200 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4682G>C |
None |
M0201442 |
NIMBOEME_00030 |
28203 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4685G>C |
None |
M0201443 |
NIMBOEME_00030 |
28204 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4686T>G |
None |
M0201444 |
NIMBOEME_00035 |
28273 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
2278G>A |
Ala760Thr |
M0201445 |
NIMBOEME_00035 |
28290 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
2261C>T |
Ala754Val |
M0201446 |
NIMBOEME_00036 |
31050 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
83A>C |
Glu28Ala |
M0201447 |
NIMBOEME_00034 |
31195 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3072A>C |
None |
M0201448 |
NIMBOEME_00037 |
31402 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
339T>C |
Arg113Arg |
M0201449 |
NIMBOEME_00037 |
31638 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
103T>G |
Ser35Ala |
M0201450 |
NIMBOEME_00037 |
31687 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
54G>C |
Gly18Gly |
M0201451 |
NIMBOEME_00037 |
31696 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
45A>G |
Val15Val |
M0201452 |
NIMBOEME_00040 |
33929 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
504T>C |
Gly168Gly |
M0201453 |
NIMBOEME_00041 |
34384 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
315T>G |
Pro105Pro |
M0201454 |
NIMBOEME_00042 |
34647 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
113C>A |
Ala38Asp |
M0201455 |
NIMBOEME_00042 |
34667 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
133T>G |
Leu45Val |
M0201456 |
NIMBOEME_00042 |
34668 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
134T>G |
Leu45Trp |
M0201457 |
NIMBOEME_00042 |
34798 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
264A>G |
Ala88Ala |
M0201458 |
NIMBOEME_00042 |
34836 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
302A>T |
His101Leu |
M0201459 |
NIMBOEME_00042 |
34921 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
387A>G |
Gly129Gly |
M0201460 |
NIMBOEME_00042 |
34967 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
433A>G |
Met145Val |
M0201461 |
NIMBOEME_00042 |
35011 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
477A>G |
Glu159Glu |
M0201462 |
NIMBOEME_00042 |
35017 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
483C>T |
Ser161Ser |
M0201463 |
NIMBOEME_00042 |
35145 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
611T>C |
Val204Ala |
M0201464 |
NIMBOEME_00042 |
35166 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
632A>G |
Gln211Arg |
M0201465 |
NIMBOEME_00042 |
35192 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
658T>C |
Leu220Leu |
M0201466 |
NIMBOEME_00042 |
35482 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
948G>A |
Ala316Ala |
M0201467 |
NIMBOEME_00042 |
35659 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1125T>C |
Thr375Thr |
M0201468 |
NIMBOEME_00042 |
35662 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1128T>G |
Ser376Ser |
M0201469 |
NIMBOEME_00044 |
36730 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
714G>A |
Thr238Thr |
M0201470 |
NIMBOEME_00044 |
36733 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
711T>C |
His237His |
M0201471 |
NIMBOEME_00044 |
36736 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
708T>C |
Thr236Thr |
M0201472 |
NIMBOEME_00044 |
36742 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
702G>A |
Pro234Pro |
M0201473 |
NIMBOEME_00044 |
36750 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
694G>A |
Val232Ile |
M0201474 |
NIMBOEME_00044 |
36775 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
669G>A |
Gly223Gly |
M0201475 |
NIMBOEME_00044 |
37150 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
294T>C |
Gly98Gly |
M0201476 |
NIMBOEME_00052 |
40349 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
374G>A |
Gly125Glu |
M0201477 |
NIMBOEME_00055 |
41681 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
95A>G |
Asp32Gly |
M0201478 |
NIMBOEME_00055 |
41741 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
35C>T |
Thr12Ile |
M0201479 |
NIMBOEME_00044 |
41820 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4377C>T |
None |
M0201480 |
NIMBOEME_00044 |
41882 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4439T>C |
None |
M0201481 |
NIMBOEME_00044 |
41885 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4442T>C |
None |
M0201482 |
NIMBOEME_00044 |
41906 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4463G>A |
None |
M0201483 |
NIMBOEME_00044 |
41931 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4488C>T |
None |
M0201484 |
NIMBOEME_00056 |
41934 |
3 |
Gut |
0.13 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
273G>A |
Ter91Ter |
M0201485 |
NIMBOEME_00056 |
41953 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
254C>A |
Ala85Glu |
M0201486 |
NIMBOEME_00056 |
41981 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
226A>G |
Ile76Val |
M0201487 |
NIMBOEME_00058 |
43568 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
60C>T |
Ala20Ala |
M0201488 |
NIMBOEME_00059 |
43854 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
999C>T |
Ser333Ser |
M0201489 |
NIMBOEME_00059 |
43905 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
948C>T |
Gly316Gly |
M0201490 |
NIMBOEME_00067 |
58473 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4582G>A |
None |
M0201491 |
NIMBOEME_00073 |
59115 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
120G>A |
Thr40Thr |
M0201492 |
NIMBOEME_00074 |
59983 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
485A>G |
Asp162Gly |
M0201493 |
NIMBOEME_00074 |
60029 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
531G>T |
Met177Ile |
M0201494 |
NIMBOEME_00074 |
60038 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
540C>T |
Arg180Arg |
M0201495 |
NIMBOEME_00074 |
60116 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
618A>G |
Thr206Thr |
M0201496 |
NIMBOEME_00074 |
60152 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
654T>C |
His218His |
M0201497 |
NIMBOEME_00075 |
60183 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
7T>G |
Ser3Ala |
M0201498 |
NIMBOEME_00075 |
60218 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
42T>G |
Ser14Ser |
M0201499 |
NIMBOEME_00075 |
60257 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
81C>T |
Asp27Asp |
M0201500 |
NIMBOEME_00075 |
60311 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
135C>T |
Tyr45Tyr |
M0201501 |
NIMBOEME_00075 |
60330 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
154A>C |
Ser52Arg |
M0201502 |
NIMBOEME_00075 |
60332 |
7 |
Gut |
0.30 |
protein_coding |
synonymous_variant |
LOW |
156T>C |
Ser52Ser |
M0201503 |
NIMBOEME_00076 |
60434 |
6 |
Gut |
0.26 |
protein_coding |
start_lost |
HIGH |
1A>G |
Met1? |
M0201504 |
NIMBOEME_00080 |
61809 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
345T>C |
Asp115Asp |
M0201505 |
NIMBOEME_00081 |
61908 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
82G>A |
Ala28Thr |
M0201506 |
NIMBOEME_00081 |
62237 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
411C>T |
Ser137Ser |
M0201507 |
NIMBOEME_00081 |
62258 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
432C>T |
Asp144Asp |
M0201508 |
NIMBOEME_00081 |
62327 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
501T>C |
Asp167Asp |
M0201509 |
NIMBOEME_00081 |
62367 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
541G>A |
Ala181Thr |
M0201510 |
NIMBOEME_00081 |
62510 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
684C>T |
His228His |
M0201511 |
NIMBOEME_00081 |
62651 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
825C>A |
Val275Val |
M0201512 |
NIMBOEME_00081 |
62756 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
930A>G |
Thr310Thr |
M0201513 |
NIMBOEME_00081 |
62987 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1161C>T |
Asp387Asp |
M0201514 |
NIMBOEME_00081 |
63038 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1212T>C |
Asp404Asp |
M0201515 |
NIMBOEME_00081 |
63039 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1213A>C |
Arg405Arg |
M0201516 |
NIMBOEME_00083 |
64187 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
111A>G |
Glu37Glu |
M0201517 |
NIMBOEME_00083 |
64345 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
269C>T |
Thr90Ile |
M0201518 |
NIMBOEME_00084 |
64492 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
6C>A |
Ala2Ala |
M0201519 |
NIMBOEME_00084 |
64594 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
108C>T |
Asp36Asp |
M0201520 |
NIMBOEME_00084 |
64598 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
112G>A |
Gly38Ser |
M0201521 |
NIMBOEME_00098 |
74740 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
481A>G |
Asn161Asp |
M0201522 |
NIMBOEME_00098 |
74760 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
501C>T |
Ile167Ile |
M0201523 |
NIMBOEME_00098 |
74810 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
551C>T |
Ala184Val |
M0201524 |
NIMBOEME_00099 |
75270 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
315T>C |
Pro105Pro |
M0201525 |
NIMBOEME_00099 |
75282 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
327T>C |
Ser109Ser |
M0201526 |
NIMBOEME_00099 |
75309 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
354A>G |
Gln118Gln |
M0201527 |
NIMBOEME_00099 |
75318 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
363A>G |
Lys121Lys |
M0201528 |
NIMBOEME_00099 |
75352 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
397G>A |
Ala133Thr |
M0201529 |
NIMBOEME_00099 |
75358 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
403T>C |
Ser135Pro |
M0201530 |
NIMBOEME_00099 |
75370 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
415A>G |
Ile139Val |
M0201531 |
NIMBOEME_00099 |
75444 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
489T>A |
Arg163Arg |
M0201532 |
NIMBOEME_00099 |
75516 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
561T>C |
Ala187Ala |
M0201533 |
NIMBOEME_00099 |
75980 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1025A>G |
Asp342Gly |
M0201534 |
NIMBOEME_00099 |
75993 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1038A>G |
Gln346Gln |
M0201535 |
NIMBOEME_00099 |
75996 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1041C>A |
Asp347Glu |
M0201536 |
NIMBOEME_00099 |
76000 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1045T>C |
Leu349Leu |
M0201537 |
NIMBOEME_00099 |
76025 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1070G>C |
Ser357Thr |
M0201538 |
NIMBOEME_00099 |
76026 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1071C>A |
Ser357Arg |
M0201539 |
NIMBOEME_00099 |
76029 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1074G>A |
Glu358Glu |
M0201540 |
NIMBOEME_00099 |
76042 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1087A>G |
Ile363Val |
M0201541 |
NIMBOEME_00099 |
76053 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1098G>A |
Ala366Ala |
M0201542 |
NIMBOEME_00100 |
76079 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
15G>C |
Leu5Leu |
M0201543 |
NIMBOEME_00100 |
76097 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
33G>A |
Pro11Pro |
M0201544 |
NIMBOEME_00101 |
76852 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
186C>T |
His62His |
M0201545 |
NIMBOEME_00101 |
77464 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
798T>C |
Thr266Thr |
M0201546 |
NIMBOEME_00101 |
77496 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
830A>C |
Asn277Thr |
M0201547 |
NIMBOEME_00101 |
77539 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
873T>C |
Gly291Gly |
M0201548 |
NIMBOEME_00101 |
77541 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
875A>G |
Gln292Arg |
M0201549 |
NIMBOEME_00101 |
77545 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
879G>A |
Ser293Ser |
M0201550 |
NIMBOEME_00102 |
77661 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
51A>T |
Ile17Ile |
M0201551 |
NIMBOEME_00102 |
77683 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
73G>A |
Val25Ile |
M0201552 |
NIMBOEME_00102 |
77700 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
90T>C |
Gly30Gly |
M0201553 |
NIMBOEME_00102 |
77823 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
213A>G |
Lys71Lys |
M0201554 |
NIMBOEME_00102 |
77833 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
223G>C |
Ala75Pro |
M0201555 |
NIMBOEME_00103 |
77864 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1381A>G |
None |
M0201556 |
NIMBOEME_00103 |
79629 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
385A>G |
Lys129Glu |
M0201557 |
NIMBOEME_00128 |
93807 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
504A>C |
Gln168His |
M0201558 |
NIMBOEME_00128 |
93808 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
503A>G |
Gln168Arg |
M0201559 |
NIMBOEME_00128 |
93818 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
493A>G |
Thr165Ala |
M0201560 |
NIMBOEME_00128 |
93867 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
444T>C |
Ala148Ala |
M0201561 |
NIMBOEME_00128 |
93915 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
396A>G |
Thr132Thr |
M0201562 |
NIMBOEME_00128 |
94077 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
234C>T |
Tyr78Tyr |
M0201563 |
NIMBOEME_00128 |
94164 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
147A>C |
Gly49Gly |
M0201564 |
NIMBOEME_00128 |
94263 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
48C>T |
Tyr16Tyr |
M0201565 |
NIMBOEME_00128 |
94274 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
37G>A |
Val13Ile |
M0201566 |
NIMBOEME_00128 |
94275 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
36C>G |
Thr12Thr |
M0201567 |
NIMBOEME_00129 |
94317 |
4 |
Gut |
0.17 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
230A>G |
Ter77Ter |
M0201568 |
NIMBOEME_00129 |
94325 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
222G>A |
Glu74Glu |
M0201569 |
NIMBOEME_00129 |
94400 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
147T>C |
Asn49Asn |
M0201570 |
NIMBOEME_00129 |
94522 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
25G>A |
Val9Ile |
M0201571 |
NIMBOEME_00130 |
94588 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
999A>G |
Lys333Lys |
M0201572 |
NIMBOEME_00130 |
94617 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
970A>G |
Asn324Asp |
M0201573 |
NIMBOEME_00130 |
94636 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
951G>A |
Gln317Gln |
M0201574 |
NIMBOEME_00130 |
94825 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
762T>C |
His254His |
M0201575 |
NIMBOEME_00130 |
94840 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
747C>A |
Ala249Ala |
M0201576 |
NIMBOEME_00130 |
95088 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
499C>T |
Leu167Leu |
M0201577 |
NIMBOEME_00130 |
95101 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
486C>T |
Asp162Asp |
M0201578 |
NIMBOEME_00130 |
95137 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
450T>C |
Asp150Asp |
M0201579 |
NIMBOEME_00130 |
95155 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
432T>A |
Ala144Ala |
M0201580 |
NIMBOEME_00130 |
95193 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
394T>C |
Leu132Leu |
M0201581 |
NIMBOEME_00130 |
95194 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
393G>C |
Pro131Pro |
M0201582 |
NIMBOEME_00130 |
95287 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
300G>C |
Leu100Leu |
M0201583 |
NIMBOEME_00130 |
95302 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
285G>C |
Val95Val |
M0201584 |
NIMBOEME_00130 |
95305 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
282C>A |
Gly94Gly |
M0201585 |
NIMBOEME_00130 |
95374 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
213T>C |
Gly71Gly |
M0201586 |
NIMBOEME_00130 |
95377 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
210C>T |
Arg70Arg |
M0201587 |
NIMBOEME_00130 |
95380 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
207T>G |
Ala69Ala |
M0201588 |
NIMBOEME_00130 |
95381 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
206C>A |
Ala69Asp |
M0201589 |
NIMBOEME_00162 |
105559 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3123A>C |
None |
M0201590 |
NIMBOEME_00162 |
105734 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2948G>A |
None |
M0201591 |
NIMBOEME_00162 |
105938 |
4 |
Gut |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2744A>G |
None |
M0201592 |
NIMBOEME_00162 |
105952 |
4 |
Gut |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2730T>C |
None |
M0201593 |
NIMBOEME_00162 |
106285 |
4 |
Gut |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2397T>C |
None |
M0201594 |
NIMBOEME_00162 |
106380 |
4 |
Gut |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2302A>T |
None |
M0201595 |
NIMBOEME_00162 |
106381 |
4 |
Gut |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2301T>C |
None |
M0201596 |
NIMBOEME_00162 |
106585 |
4 |
Gut |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2097T>C |
None |
M0201597 |
NIMBOEME_00162 |
106760 |
4 |
Gut |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1922T>C |
None |
M0201598 |
NIMBOEME_00162 |
107181 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1501G>A |
None |
M0201599 |
NIMBOEME_00162 |
107217 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1465A>T |
None |
M0201600 |
NIMBOEME_00162 |
108885 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
204T>C |
Ser68Ser |
M0201601 |
NIMBOEME_00162 |
110361 |
5 |
Gut |
0.22 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*702G>T |
None |
M0201602 |
NIMBOEME_00171 |
114620 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1098C>T |
Arg366Arg |
M0201603 |
NIMBOEME_00172 |
115981 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
84C>T |
Val28Val |
M0201604 |
NIMBOEME_00173 |
116541 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
567C>T |
Ile189Ile |
M0201605 |
NIMBOEME_00173 |
116703 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
405G>A |
Ala135Ala |
M0201606 |
NIMBOEME_00177 |
121681 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
963A>C |
Pro321Pro |
M0201607 |
NIMBOEME_00177 |
121791 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
853A>C |
Thr285Pro |
M0201608 |
NIMBOEME_00177 |
121905 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
739G>A |
Ala247Thr |
M0201609 |
NIMBOEME_00177 |
121934 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
710A>G |
His237Arg |
M0201610 |
NIMBOEME_00177 |
121935 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
709C>T |
His237Tyr |
M0201611 |
NIMBOEME_00177 |
121952 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
692T>C |
Ile231Thr |
M0201612 |
NIMBOEME_00177 |
121953 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
691A>G |
Ile231Val |
M0201613 |
NIMBOEME_00177 |
122136 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
508G>A |
Asp170Asn |
M0201614 |
NIMBOEME_00177 |
122199 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
445T>A |
Ser149Thr |
M0201615 |
NIMBOEME_00177 |
122268 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
376T>C |
Ser126Pro |
M0201616 |
NIMBOEME_00177 |
122332 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
312G>A |
Gln104Gln |
M0201617 |
NIMBOEME_00177 |
122416 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
228A>G |
Glu76Glu |
M0201618 |
NIMBOEME_00177 |
122467 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
177T>G |
Asp59Glu |
M0201619 |
NIMBOEME_00177 |
122468 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
176A>G |
Asp59Gly |
M0201620 |
NIMBOEME_00177 |
122471 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
173G>C |
Ser58Thr |
M0201621 |
NIMBOEME_00177 |
122472 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
172A>G |
Ser58Gly |
M0201622 |
NIMBOEME_00177 |
122511 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
133A>G |
Thr45Ala |
M0201623 |
NIMBOEME_00177 |
122547 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
97G>A |
Asp33Asn |
M0201624 |
NIMBOEME_00177 |
122555 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
89C>A |
Ala30Asp |
M0201625 |
NIMBOEME_00177 |
122560 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
84T>C |
Asp28Asp |
M0201626 |
NIMBOEME_00178 |
122697 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1809T>C |
Ala603Ala |
M0201627 |
NIMBOEME_00178 |
122853 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1653T>C |
Asp551Asp |
M0201628 |
NIMBOEME_00178 |
122883 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1623A>C |
Pro541Pro |
M0201629 |
NIMBOEME_00178 |
122901 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1605A>G |
Pro535Pro |
M0201630 |
NIMBOEME_00178 |
122910 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1596T>C |
Asn532Asn |
M0201631 |
NIMBOEME_00178 |
122937 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1569A>C |
Gly523Gly |
M0201632 |
NIMBOEME_00178 |
122985 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1521T>C |
Arg507Arg |
M0201633 |
NIMBOEME_00178 |
122994 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1512T>C |
Asp504Asp |
M0201634 |
NIMBOEME_00178 |
123009 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1497G>A |
Arg499Arg |
M0201635 |
NIMBOEME_00178 |
123489 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1017T>G |
Gly339Gly |
M0201636 |
NIMBOEME_00178 |
123492 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1014C>T |
Tyr338Tyr |
M0201637 |
NIMBOEME_00180 |
125677 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2971T>C |
Leu991Leu |
M0201638 |
NIMBOEME_00180 |
125678 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2970G>C |
Leu990Leu |
M0201639 |
NIMBOEME_00180 |
125705 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2943C>G |
Ala981Ala |
M0201640 |
NIMBOEME_00180 |
126188 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2460C>T |
Gly820Gly |
M0201641 |
NIMBOEME_00180 |
126437 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2211C>T |
Gly737Gly |
M0201642 |
NIMBOEME_00180 |
126452 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2196C>T |
Arg732Arg |
M0201643 |
NIMBOEME_00180 |
126542 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2106G>A |
Ala702Ala |
M0201644 |
NIMBOEME_00180 |
127106 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1542T>C |
Asp514Asp |
M0201645 |
NIMBOEME_00180 |
127153 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1495C>T |
Leu499Leu |
M0201646 |
NIMBOEME_00180 |
128459 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
189T>C |
Ser63Ser |
M0201647 |
NIMBOEME_00180 |
128462 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
186C>A |
Gly62Gly |
M0201648 |
NIMBOEME_00185 |
132997 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
444T>C |
Gly148Gly |
M0201649 |
NIMBOEME_00185 |
133000 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
447G>T |
Arg149Arg |
M0201650 |
NIMBOEME_00185 |
133003 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
450G>A |
Thr150Thr |
M0201651 |
NIMBOEME_00191 |
137967 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
153G>T |
Gln51His |
M0201652 |
NIMBOEME_00191 |
137968 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
154C>A |
Gln52Lys |
M0201653 |
NIMBOEME_00191 |
138600 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
786G>A |
Gly262Gly |
M0201654 |
NIMBOEME_00191 |
138630 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
816C>T |
Asp272Asp |
M0201655 |
NIMBOEME_00192 |
138887 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1159G>A |
Asp387Asn |
M0201656 |
NIMBOEME_00192 |
139722 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
324C>T |
Gly108Gly |
M0201657 |
NIMBOEME_00194 |
143034 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
2204C>T |
Thr735Ile |
M0201658 |
NIMBOEME_00194 |
143663 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1575T>C |
Pro525Pro |
M0201659 |
NIMBOEME_00237 |
178105 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
2180T>C |
Ile727Thr |
M0201660 |
NIMBOEME_00237 |
178114 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
2189C>G |
Ala730Gly |
M0201661 |
NIMBOEME_00237 |
178314 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
2389A>G |
Thr797Ala |
M0201662 |
NIMBOEME_00237 |
178315 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
2390C>T |
Thr797Ile |
M0201663 |
NIMBOEME_00237 |
178322 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2397C>A |
Thr799Thr |
M0201664 |
NIMBOEME_00237 |
178325 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2400A>G |
Pro800Pro |
M0201665 |
NIMBOEME_00237 |
178349 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2424C>T |
His808His |
M0201666 |
NIMBOEME_00237 |
178590 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
2665T>G |
Ser889Ala |
M0201667 |
NIMBOEME_00237 |
178610 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2685C>A |
Gly895Gly |
M0201668 |
NIMBOEME_00238 |
179263 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
162T>C |
Phe54Phe |
M0201669 |
NIMBOEME_00239 |
180622 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
918C>T |
Gly306Gly |
M0201670 |
NIMBOEME_00239 |
180886 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1182T>C |
Tyr394Tyr |
M0201671 |
NIMBOEME_00241 |
181881 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1863T>C |
Ala621Ala |
M0201672 |
NIMBOEME_00241 |
181902 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1842G>C |
Ala614Ala |
M0201673 |
NIMBOEME_00241 |
182394 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1350T>G |
Leu450Leu |
M0201674 |
NIMBOEME_00138 |
104809 |
4 |
Gut |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4320G>A |
None |
M0201675 |
NIMBOEME_00138 |
105327 |
4 |
Gut |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4838T>C |
None |
M0201676 |
NIMBOEME_00162 |
107273 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1409A>G |
None |
M0201677 |
NIMBOEME_00162 |
107444 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1238C>T |
None |
M0201678 |
NIMBOEME_00170 |
114021 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
60C>T |
Asp20Asp |
M0201679 |
NIMBOEME_00163 |
114090 |
4 |
Gut |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2033C>T |
None |
M0201680 |
NIMBOEME_00171 |
114278 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1440G>T |
Thr480Thr |
M0201681 |
NIMBOEME_00171 |
114356 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1362T>G |
Arg454Arg |
M0201682 |
NIMBOEME_00173 |
116698 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
410C>T |
Ala137Val |
M0201683 |
NIMBOEME_00180 |
126158 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2490G>A |
Lys830Lys |
M0201684 |
NIMBOEME_00180 |
128320 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
328T>C |
Leu110Leu |
M0201685 |
NIMBOEME_00180 |
128321 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
327A>G |
Leu109Leu |
M0201686 |
NIMBOEME_00185 |
133030 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
477C>T |
Ile159Ile |
M0201687 |
NIMBOEME_00185 |
133033 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
480G>A |
Ala160Ala |
M0201688 |
NIMBOEME_00034 |
26708 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1416T>C |
Ala472Ala |
M0201689 |
NIMBOEME_00034 |
26785 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1339A>C |
Thr447Pro |
M0201690 |
NIMBOEME_00034 |
27271 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
853G>A |
Val285Ile |
M0201691 |
NIMBOEME_00034 |
27298 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
826G>A |
Asp276Asn |
M0201692 |
NIMBOEME_00034 |
27525 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
599A>G |
Asp200Gly |
M0201693 |
NIMBOEME_00034 |
27665 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
459A>C |
Ala153Ala |
M0201694 |
NIMBOEME_00034 |
27707 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
417A>G |
Ala139Ala |
M0201695 |
NIMBOEME_00034 |
27712 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
412A>C |
Met138Leu |
M0201696 |
NIMBOEME_00035 |
29201 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1350C>T |
Pro450Pro |
M0201697 |
NIMBOEME_00035 |
30180 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
371A>C |
Asp124Ala |
M0201698 |
NIMBOEME_00035 |
30186 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
365A>G |
Asn122Ser |
M0201699 |
NIMBOEME_00035 |
30235 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
316G>A |
Gly106Ser |
M0201700 |
NIMBOEME_00035 |
30286 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
265G>A |
Asp89Asn |
M0201701 |
NIMBOEME_00035 |
30289 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
262A>C |
Lys88Gln |
M0201702 |
NIMBOEME_00035 |
30295 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
256G>A |
Glu86Lys |
M0201703 |
NIMBOEME_00035 |
30436 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
115G>A |
Ala39Thr |
M0201704 |
NIMBOEME_00034 |
30687 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2564G>T |
None |
M0201705 |
NIMBOEME_00034 |
30688 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2565C>T |
None |
M0201706 |
NIMBOEME_00034 |
30690 |
5 |
Gut |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2567T>G |
None |
M0201707 |
NIMBOEME_00036 |
30698 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
435C>T |
Val145Val |
M0201708 |
NIMBOEME_00036 |
30740 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
393C>T |
Asp131Asp |
M0201709 |
NIMBOEME_00035 |
34016 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3466G>A |
None |
M0201710 |
NIMBOEME_00041 |
34073 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
4C>T |
Leu2Leu |
M0201711 |
NIMBOEME_00042 |
35335 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
801T>C |
Asn267Asn |
M0201712 |
NIMBOEME_00042 |
35687 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1153T>C |
Ser385Pro |
M0201713 |
NIMBOEME_00042 |
35706 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1172G>A |
Ser391Asn |
M0201714 |
NIMBOEME_00042 |
35728 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1194A>C |
Thr398Thr |
M0201715 |
NIMBOEME_00042 |
35798 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1264G>A |
Asp422Asn |
M0201716 |
NIMBOEME_00054 |
41393 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
75T>G |
Asn25Lys |
M0201717 |
NIMBOEME_00055 |
41630 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
146A>G |
Tyr49Cys |
M0201718 |
NIMBOEME_00056 |
42096 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
111A>G |
Thr37Thr |
M0201719 |
NIMBOEME_00057 |
42759 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
720A>G |
Ala240Ala |
M0201720 |
NIMBOEME_00057 |
43149 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
330G>A |
Ala110Ala |
M0201721 |
NIMBOEME_00059 |
44088 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
765A>G |
Val255Val |
M0201722 |
NIMBOEME_00059 |
44683 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
170A>G |
His57Arg |
M0201723 |
NIMBOEME_00062 |
46328 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
273C>T |
Ile91Ile |
M0201724 |
NIMBOEME_00062 |
46376 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
225C>T |
Gly75Gly |
M0201725 |
NIMBOEME_00062 |
46458 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
143A>G |
Lys48Arg |
M0201726 |
NIMBOEME_00063 |
46750 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
3093G>A |
Glu1031Glu |
M0201727 |
NIMBOEME_00063 |
46855 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
2988G>A |
Glu996Glu |
M0201728 |
NIMBOEME_00063 |
47035 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
2808C>T |
Gly936Gly |
M0201729 |
NIMBOEME_00063 |
47061 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
2782C>T |
Leu928Leu |
M0201730 |
NIMBOEME_00063 |
47360 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
2483A>G |
Gln828Arg |
M0201731 |
NIMBOEME_00063 |
47367 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
2476G>A |
Ala826Thr |
M0201732 |
NIMBOEME_00063 |
47652 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
2191G>A |
Gly731Arg |
M0201733 |
NIMBOEME_00063 |
47670 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
2173A>G |
Ser725Gly |
M0201734 |
NIMBOEME_00063 |
47788 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
2055T>C |
Cys685Cys |
M0201735 |
NIMBOEME_00063 |
47791 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
2052T>C |
Phe684Phe |
M0201736 |
NIMBOEME_00063 |
47887 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1956T>C |
Leu652Leu |
M0201737 |
NIMBOEME_00063 |
48025 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1818G>A |
Ala606Ala |
M0201738 |
NIMBOEME_00063 |
48091 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1752G>A |
Leu584Leu |
M0201739 |
NIMBOEME_00063 |
48133 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1710T>A |
Gly570Gly |
M0201740 |
NIMBOEME_00063 |
48142 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1701T>C |
Gly567Gly |
M0201741 |
NIMBOEME_00063 |
48157 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1686G>A |
Ala562Ala |
M0201742 |
NIMBOEME_00063 |
48204 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1639G>C |
Glu547Gln |
M0201743 |
NIMBOEME_00063 |
48228 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1615A>G |
Asn539Asp |
M0201744 |
NIMBOEME_00063 |
48309 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1534G>A |
Asp512Asn |
M0201745 |
NIMBOEME_00063 |
48358 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1485C>T |
Phe495Phe |
M0201746 |
NIMBOEME_00063 |
48365 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1478A>G |
Gln493Arg |
M0201747 |
NIMBOEME_00063 |
48380 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1463A>C |
Lys488Thr |
M0201748 |
NIMBOEME_00063 |
48435 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1408G>A |
Val470Ile |
M0201749 |
NIMBOEME_00063 |
48440 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1403T>A |
Val468Asp |
M0201750 |
NIMBOEME_00063 |
48499 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1344G>A |
Lys448Lys |
M0201751 |
NIMBOEME_00063 |
48504 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1339T>C |
Leu447Leu |
M0201752 |
NIMBOEME_00063 |
48535 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1308A>T |
Gly436Gly |
M0201753 |
NIMBOEME_00063 |
48667 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1176C>T |
Asp392Asp |
M0201754 |
NIMBOEME_00063 |
48745 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1098G>A |
Ala366Ala |
M0201755 |
NIMBOEME_00063 |
48868 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
975T>C |
Gly325Gly |
M0201756 |
NIMBOEME_00063 |
48874 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
969G>A |
Pro323Pro |
M0201757 |
NIMBOEME_00063 |
48934 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
909G>A |
Thr303Thr |
M0201758 |
NIMBOEME_00063 |
49252 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
591T>C |
Cys197Cys |
M0201759 |
NIMBOEME_00063 |
49379 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
464G>A |
Ser155Asn |
M0201760 |
NIMBOEME_00063 |
49390 |
6 |
Gut |
0.26 |
protein_coding |
missense_variant |
MODERATE |
453C>A |
Asn151Lys |
M0201761 |
NIMBOEME_00063 |
49708 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
135G>A |
Glu45Glu |
M0201762 |
NIMBOEME_00066 |
51726 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1695A>G |
Pro565Pro |
M0201763 |
NIMBOEME_00066 |
52049 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1372G>A |
Gly458Ser |
M0201764 |
NIMBOEME_00066 |
52056 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1365T>C |
Asn455Asn |
M0201765 |
NIMBOEME_00066 |
52563 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
858G>T |
Leu286Leu |
M0201766 |
NIMBOEME_00069 |
55130 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1098G>A |
Lys366Lys |
M0201767 |
NIMBOEME_00069 |
55403 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
825G>A |
Lys275Lys |
M0201768 |
NIMBOEME_00069 |
55433 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
795T>C |
Leu265Leu |
M0201769 |
NIMBOEME_00070 |
57505 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
636C>T |
Val212Val |
M0201770 |
NIMBOEME_00067 |
58799 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4908G>A |
None |
M0201771 |
NIMBOEME_00076 |
60478 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
45T>C |
Cys15Cys |
M0201772 |
NIMBOEME_00076 |
60484 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
51C>A |
Thr17Thr |
M0201773 |
NIMBOEME_00077 |
60781 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
122C>T |
Thr41Met |
M0201774 |
NIMBOEME_00078 |
60849 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
12G>A |
Leu4Leu |
M0201775 |
NIMBOEME_00078 |
60986 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
149C>A |
Ala50Glu |
M0201776 |
NIMBOEME_00079 |
61128 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
44G>A |
Ser15Asn |
M0201777 |
NIMBOEME_00079 |
61363 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
279A>C |
Ile93Ile |
M0201778 |
NIMBOEME_00080 |
61644 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
180A>G |
Gly60Gly |
M0201779 |
NIMBOEME_00080 |
61653 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
189A>G |
Val63Val |
M0201780 |
NIMBOEME_00081 |
62624 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
798G>A |
Gln266Gln |
M0201781 |
NIMBOEME_00081 |
62655 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
829G>A |
Gly277Ser |
M0201782 |
NIMBOEME_00081 |
63047 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1221T>C |
Gly407Gly |
M0201783 |
NIMBOEME_00081 |
63116 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1290A>C |
Gly430Gly |
M0201784 |
NIMBOEME_00082 |
63538 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
342C>A |
Asn114Lys |
M0201785 |
NIMBOEME_00082 |
63798 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
602T>C |
Met201Thr |
M0201786 |
NIMBOEME_00082 |
63976 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
780G>A |
Leu260Leu |
M0201787 |
NIMBOEME_00084 |
64843 |
6 |
Gut |
0.26 |
protein_coding |
synonymous_variant |
LOW |
357A>G |
Leu119Leu |
M0201788 |
NIMBOEME_00237 |
176862 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
937C>G |
Gln313Glu |
M0201789 |
NIMBOEME_00237 |
176864 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
939G>A |
Gln313Gln |
M0201790 |
NIMBOEME_00237 |
176868 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
943G>A |
Asp315Asn |
M0201791 |
NIMBOEME_00237 |
176874 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
949T>A |
Ser317Thr |
M0201792 |
NIMBOEME_00237 |
176876 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
951G>C |
Ser317Ser |
M0201793 |
NIMBOEME_00237 |
176879 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
954C>T |
Asp318Asp |
M0201794 |
NIMBOEME_00237 |
176909 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
984G>A |
Glu328Glu |
M0201795 |
NIMBOEME_00237 |
176937 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1012A>T |
Thr338Ser |
M0201796 |
NIMBOEME_00237 |
176939 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1014G>C |
Thr338Thr |
M0201797 |
NIMBOEME_00237 |
176942 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1017C>T |
Gly339Gly |
M0201798 |
NIMBOEME_00237 |
177002 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1077G>A |
Lys359Lys |
M0201799 |
NIMBOEME_00237 |
177077 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1152T>C |
Asp384Asp |
M0201800 |
NIMBOEME_00237 |
177097 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1172G>A |
Gly391Asp |
M0201801 |
NIMBOEME_00237 |
177124 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1199G>A |
Gly400Asp |
M0201802 |
NIMBOEME_00237 |
177135 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1210G>A |
Ala404Thr |
M0201803 |
NIMBOEME_00237 |
177137 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1212C>G |
Ala404Ala |
M0201804 |
NIMBOEME_00237 |
177141 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1216A>C |
Lys406Gln |
M0201805 |
NIMBOEME_00237 |
177142 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1217A>C |
Lys406Thr |
M0201806 |
NIMBOEME_00237 |
177151 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1226C>G |
Thr409Ser |
M0201807 |
NIMBOEME_00237 |
177152 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1227C>A |
Thr409Thr |
M0201808 |
NIMBOEME_00237 |
177153 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1228C>G |
Pro410Ala |
M0201809 |
NIMBOEME_00237 |
177293 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1368C>T |
His456His |
M0201810 |
NIMBOEME_00237 |
177338 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1413C>T |
Ala471Ala |
M0201811 |
NIMBOEME_00237 |
177346 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1421C>A |
Thr474Asn |
M0201812 |
NIMBOEME_00237 |
177347 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1422C>T |
Thr474Thr |
M0201813 |
NIMBOEME_00237 |
177368 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1443C>T |
Gly481Gly |
M0201814 |
NIMBOEME_00237 |
177374 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1449C>T |
Asp483Asp |
M0201815 |
NIMBOEME_00237 |
177383 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1458A>G |
Glu486Glu |
M0201816 |
NIMBOEME_00237 |
177449 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1524A>G |
Lys508Lys |
M0201817 |
NIMBOEME_00237 |
177464 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1539C>T |
Arg513Arg |
M0201818 |
NIMBOEME_00237 |
177467 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1542C>T |
Asp514Asp |
M0201819 |
NIMBOEME_00237 |
177614 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1689C>T |
Gly563Gly |
M0201820 |
NIMBOEME_00237 |
177654 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1729A>G |
Thr577Ala |
M0201821 |
NIMBOEME_00241 |
181975 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1769A>G |
Gln590Arg |
M0201822 |
NIMBOEME_00241 |
182112 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1632C>G |
Leu544Leu |
M0201823 |
NIMBOEME_00241 |
182118 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1626G>C |
Ala542Ala |
M0201824 |
NIMBOEME_00241 |
182120 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1624G>T |
Ala542Ser |
M0201825 |
NIMBOEME_00241 |
182124 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1620C>G |
Ala540Ala |
M0201826 |
NIMBOEME_00241 |
182127 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1617C>A |
Asp539Glu |
M0201827 |
NIMBOEME_00241 |
182130 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1614C>G |
Ala538Ala |
M0201828 |
NIMBOEME_00241 |
182132 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1612G>A |
Ala538Thr |
M0201829 |
NIMBOEME_00044 |
41781 |
4 |
Gut |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4338C>A |
None |
M0201830 |
NIMBOEME_00063 |
47460 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
2383G>A |
Ala795Thr |
M0201831 |
NIMBOEME_00063 |
47481 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
2362G>A |
Ala788Thr |
M0201832 |
NIMBOEME_00063 |
47504 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
2339A>G |
Asp780Gly |
M0201833 |
NIMBOEME_00063 |
47704 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2139G>A |
Val713Val |
M0201834 |
NIMBOEME_00063 |
47878 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1965G>A |
Lys655Lys |
M0201835 |
NIMBOEME_00063 |
47884 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
1959G>A |
Met653Ile |
M0201836 |
NIMBOEME_00063 |
47885 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
1958T>C |
Met653Thr |
M0201837 |
NIMBOEME_00063 |
48922 |
4 |
Gut |
0.17 |
protein_coding |
synonymous_variant |
LOW |
921G>A |
Ser307Ser |
M0201838 |
NIMBOEME_00063 |
48958 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
885C>T |
Ala295Ala |
M0201839 |
NIMBOEME_00063 |
49165 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
678C>T |
Val226Val |
M0201840 |
NIMBOEME_00063 |
49177 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
666T>C |
Ser222Ser |
M0201841 |
NIMBOEME_00063 |
49183 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
660C>A |
Thr220Thr |
M0201842 |
NIMBOEME_00063 |
49557 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
286G>T |
Ala96Ser |
M0201843 |
NIMBOEME_00063 |
49742 |
5 |
Gut |
0.22 |
protein_coding |
missense_variant |
MODERATE |
101C>T |
Ala34Val |
M0201844 |
NIMBOEME_00064 |
50169 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
75C>T |
Ile25Ile |
M0201845 |
NIMBOEME_00064 |
50172 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
72A>C |
Ser24Ser |
M0201846 |
NIMBOEME_00065 |
50601 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
6C>T |
Gly2Gly |
M0201847 |
NIMBOEME_00066 |
50859 |
5 |
Gut |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2562G>A |
Ala854Ala |
M0201848 |
NIMBOEME_00066 |
56569 |
4 |
Gut |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3149A>G |
None |
M0201849 |
NIMBOEME_00066 |
56650 |
4 |
Gut |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3230A>G |
None |
M0201850 |
NIMBOEME_00081 |
62022 |
4 |
Gut |
0.17 |
protein_coding |
missense_variant |
MODERATE |
196A>G |
Thr66Ala |
M0201851 |
NIMBOEME_00237 |
177600 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1675G>T |
Ala559Ser |
M0201852 |
NIMBOEME_00237 |
177707 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1782C>G |
Ala594Ala |
M0201853 |
NIMBOEME_00237 |
177853 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1928G>A |
Arg643Lys |
M0201854 |
NIMBOEME_00237 |
178023 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
2098G>A |
Val700Ile |
M0201855 |
NIMBOEME_00237 |
178113 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
2188G>A |
Ala730Thr |
M0201856 |
NIMBOEME_00237 |
178241 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
2316T>C |
Asp772Asp |
M0201857 |
NIMBOEME_00061 |
45861 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
171T>C |
Ile57Ile |
M0201858 |
NIMBOEME_00061 |
45891 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
141T>C |
Gly47Gly |
M0201859 |
NIMBOEME_00063 |
46989 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
2854A>C |
Ile952Leu |
M0201860 |
NIMBOEME_00063 |
47575 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
2268C>T |
Pro756Pro |
M0201861 |
NIMBOEME_00066 |
52505 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
916A>G |
Ile306Val |
M0201862 |
NIMBOEME_00066 |
52926 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
495A>T |
Ala165Ala |
M0201863 |
NIMBOEME_00066 |
52929 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
492A>C |
Ala164Ala |
M0201864 |
NIMBOEME_00089 |
66909 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
201A>G |
Lys67Lys |
M0201865 |
NIMBOEME_00128 |
93814 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
497C>T |
Pro166Leu |
M0201866 |
NIMBOEME_00128 |
94172 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
139G>A |
Ala47Thr |
M0201867 |
NIMBOEME_00128 |
94206 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
105G>C |
Pro35Pro |
M0201868 |
NIMBOEME_00128 |
94209 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
102C>T |
Cys34Cys |
M0201869 |
NIMBOEME_00128 |
94210 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
101G>A |
Cys34Tyr |
M0201870 |
NIMBOEME_00128 |
94212 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
99A>T |
Glu33Asp |
M0201871 |
NIMBOEME_00128 |
94215 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
96C>G |
Asp32Glu |
M0201872 |
NIMBOEME_00128 |
94222 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
89A>G |
Asp30Gly |
M0201873 |
NIMBOEME_00129 |
94331 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
216A>G |
Gln72Gln |
M0201874 |
NIMBOEME_00129 |
94337 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
210G>A |
Ala70Ala |
M0201875 |
NIMBOEME_00130 |
94635 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
952T>C |
Leu318Leu |
M0201876 |
NIMBOEME_00130 |
94650 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
937C>T |
His313Tyr |
M0201877 |
NIMBOEME_00130 |
94826 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
761A>G |
His254Arg |
M0201878 |
NIMBOEME_00130 |
94897 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
690C>T |
Gly230Gly |
M0201879 |
NIMBOEME_00130 |
95290 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
297T>C |
Gly99Gly |
M0201880 |
NIMBOEME_00130 |
95470 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
117C>T |
Asp39Asp |
M0201881 |
NIMBOEME_00130 |
95494 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
93C>T |
Gly31Gly |
M0201882 |
NIMBOEME_00130 |
95517 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
70A>G |
Ile24Val |
M0201883 |
NIMBOEME_00130 |
95546 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
41A>G |
Asn14Ser |
M0201884 |
NIMBOEME_00130 |
95547 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
40A>G |
Asn14Asp |
M0201885 |
NIMBOEME_00132 |
95838 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
348T>C |
Asp116Asp |
M0201886 |
NIMBOEME_00132 |
95847 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
339T>C |
Phe113Phe |
M0201887 |
NIMBOEME_00132 |
95853 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
333T>C |
Ala111Ala |
M0201888 |
NIMBOEME_00132 |
95865 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
321T>C |
Gly107Gly |
M0201889 |
NIMBOEME_00132 |
95925 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
261G>A |
Lys87Lys |
M0201890 |
NIMBOEME_00132 |
95946 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
240T>G |
Leu80Leu |
M0201891 |
NIMBOEME_00132 |
96077 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
109T>C |
Ser37Pro |
M0201892 |
NIMBOEME_00132 |
96090 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
96A>G |
Ile32Met |
M0201893 |
NIMBOEME_00138 |
104259 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3770C>A |
None |
M0201894 |
NIMBOEME_00138 |
104665 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4176G>C |
None |
M0201895 |
NIMBOEME_00138 |
104666 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4177G>T |
None |
M0201896 |
NIMBOEME_00138 |
105250 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4761C>G |
None |
M0201897 |
NIMBOEME_00138 |
105264 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4775C>T |
None |
M0201898 |
NIMBOEME_00138 |
105430 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4941C>T |
None |
M0201899 |
NIMBOEME_00162 |
105527 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3155T>C |
None |
M0201900 |
NIMBOEME_00162 |
106239 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2443C>T |
None |
M0201901 |
NIMBOEME_00162 |
106388 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2294G>T |
None |
M0201902 |
NIMBOEME_00162 |
106484 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2198T>C |
None |
M0201903 |
NIMBOEME_00162 |
106490 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2192T>G |
None |
M0201904 |
NIMBOEME_00162 |
106500 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2182C>A |
None |
M0201905 |
NIMBOEME_00162 |
106573 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2109C>T |
None |
M0201906 |
NIMBOEME_00162 |
106729 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1953A>G |
None |
M0201907 |
NIMBOEME_00162 |
106731 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1951A>T |
None |
M0201908 |
NIMBOEME_00162 |
106761 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1921C>T |
None |
M0201909 |
NIMBOEME_00162 |
107160 |
4 |
Gut |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1522G>A |
None |
M0201910 |
NIMBOEME_00162 |
108825 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
144C>T |
Ser48Ser |
M0201911 |
NIMBOEME_00162 |
109850 |
4 |
Gut |
0.17 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*191G>A |
None |
M0201912 |
NIMBOEME_00162 |
109944 |
3 |
Gut |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*285G>A |
None |
M0201913 |
NIMBOEME_00162 |
110379 |
3 |
Gut |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*720A>G |
None |
M0201914 |
NIMBOEME_00162 |
110380 |
3 |
Gut |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*721T>C |
None |
M0201915 |
NIMBOEME_00163 |
111614 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
444T>C |
Gly148Gly |
M0201916 |
NIMBOEME_00163 |
111661 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
397C>A |
Leu133Ile |
M0201917 |
NIMBOEME_00163 |
111663 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
395C>A |
Ala132Glu |
M0201918 |
NIMBOEME_00163 |
111671 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
387G>A |
Glu129Glu |
M0201919 |
NIMBOEME_00163 |
111674 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
384A>C |
Ser128Ser |
M0201920 |
NIMBOEME_00165 |
112337 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
7A>T |
Ile3Phe |
M0201921 |
NIMBOEME_00165 |
112339 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
5T>A |
Leu2Gln |
M0201922 |
NIMBOEME_00167 |
112637 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
151G>A |
Val51Ile |
M0201923 |
NIMBOEME_00169 |
113020 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
194C>T |
Thr65Ile |
M0201924 |
NIMBOEME_00169 |
113021 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
193A>T |
Thr65Ser |
M0201925 |
NIMBOEME_00171 |
115248 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
470A>G |
Gln157Arg |
M0201926 |
NIMBOEME_00171 |
115556 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
162C>T |
His54His |
M0201927 |
NIMBOEME_00171 |
115571 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
147G>A |
Gly49Gly |
M0201928 |
NIMBOEME_00169 |
118184 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4971G>T |
None |
M0201929 |
NIMBOEME_00176 |
119509 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
359A>G |
Lys120Arg |
M0201930 |
NIMBOEME_00177 |
121540 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1104A>G |
Pro368Pro |
M0201931 |
NIMBOEME_00177 |
121571 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1073C>A |
Thr358Lys |
M0201932 |
NIMBOEME_00177 |
121700 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
944A>T |
Asp315Val |
M0201933 |
NIMBOEME_00177 |
121708 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
936A>G |
Glu312Glu |
M0201934 |
NIMBOEME_00177 |
121921 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
723A>G |
Lys241Lys |
M0201935 |
NIMBOEME_00177 |
122003 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
641C>T |
Pro214Leu |
M0201936 |
NIMBOEME_00177 |
122013 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
631G>A |
Ala211Thr |
M0201937 |
NIMBOEME_00177 |
122025 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
619C>T |
Pro207Ser |
M0201938 |
NIMBOEME_00177 |
122111 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
533G>A |
Ser178Asn |
M0201939 |
NIMBOEME_00177 |
122148 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
496G>T |
Val166Phe |
M0201940 |
NIMBOEME_00177 |
122270 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
374T>C |
Leu125Ser |
M0201941 |
NIMBOEME_00177 |
122275 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
369T>G |
Asn123Lys |
M0201942 |
NIMBOEME_00177 |
122276 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
368A>G |
Asn123Ser |
M0201943 |
NIMBOEME_00177 |
122280 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
364T>G |
Tyr122Asp |
M0201944 |
NIMBOEME_00177 |
122281 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
363A>T |
Glu121Asp |
M0201945 |
NIMBOEME_00177 |
122458 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
186A>G |
Gly62Gly |
M0201946 |
NIMBOEME_00177 |
122506 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
138C>T |
Phe46Phe |
M0201947 |
NIMBOEME_00177 |
122538 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
106A>G |
Ser36Gly |
M0201948 |
NIMBOEME_00177 |
122551 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
93A>G |
Pro31Pro |
M0201949 |
NIMBOEME_00174 |
122646 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4492T>A |
None |
M0201950 |
NIMBOEME_00174 |
122657 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4503C>T |
None |
M0201951 |
NIMBOEME_00178 |
122661 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1845A>T |
Leu615Leu |
M0201952 |
NIMBOEME_00178 |
122679 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1827A>G |
Leu609Leu |
M0201953 |
NIMBOEME_00178 |
122721 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1785G>T |
Pro595Pro |
M0201954 |
NIMBOEME_00178 |
122727 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1779T>C |
Asp593Asp |
M0201955 |
NIMBOEME_00178 |
122730 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1776T>C |
Val592Val |
M0201956 |
NIMBOEME_00178 |
122733 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1773C>T |
Gly591Gly |
M0201957 |
NIMBOEME_00178 |
122736 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1770T>A |
Ala590Ala |
M0201958 |
NIMBOEME_00178 |
122864 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1642C>T |
Pro548Ser |
M0201959 |
NIMBOEME_00178 |
122868 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1638T>C |
Ile546Ile |
M0201960 |
NIMBOEME_00178 |
123036 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1470C>T |
Gly490Gly |
M0201961 |
NIMBOEME_00178 |
123126 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1380C>T |
Pro460Pro |
M0201962 |
NIMBOEME_00178 |
123141 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1365A>G |
Gly455Gly |
M0201963 |
NIMBOEME_00178 |
123252 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1254A>G |
Gly418Gly |
M0201964 |
NIMBOEME_00178 |
123351 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1155A>G |
Arg385Arg |
M0201965 |
NIMBOEME_00178 |
123459 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1047A>C |
Glu349Asp |
M0201966 |
NIMBOEME_00178 |
123465 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1041C>T |
Pro347Pro |
M0201967 |
NIMBOEME_00178 |
123468 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1038T>G |
Leu346Leu |
M0201968 |
NIMBOEME_00178 |
123471 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1035G>T |
Gly345Gly |
M0201969 |
NIMBOEME_00178 |
123590 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
916A>C |
Thr306Pro |
M0201970 |
NIMBOEME_00178 |
123596 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
910G>A |
Val304Ile |
M0201971 |
NIMBOEME_00178 |
123600 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
906A>G |
Pro302Pro |
M0201972 |
NIMBOEME_00178 |
123603 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
903C>A |
Arg301Arg |
M0201973 |
NIMBOEME_00178 |
123615 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
891T>C |
Phe297Phe |
M0201974 |
NIMBOEME_00180 |
125273 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
3375C>T |
Asp1125Asp |
M0201975 |
NIMBOEME_00180 |
126721 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1927G>A |
Asp643Asn |
M0201976 |
NIMBOEME_00180 |
127214 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1434A>G |
Ala478Ala |
M0201977 |
NIMBOEME_00180 |
127215 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1433C>T |
Ala478Val |
M0201978 |
NIMBOEME_00180 |
127748 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
900G>T |
Leu300Leu |
M0201979 |
NIMBOEME_00180 |
127751 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
897A>T |
Leu299Leu |
M0201980 |
NIMBOEME_00180 |
128331 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
317C>G |
Ala106Gly |
M0201981 |
NIMBOEME_00180 |
128510 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
138C>T |
Gly46Gly |
M0201982 |
NIMBOEME_00181 |
128778 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
210C>G |
Cys70Trp |
M0201983 |
NIMBOEME_00181 |
128803 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
185C>A |
Thr62Lys |
M0201984 |
NIMBOEME_00180 |
132533 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3886A>G |
None |
M0201985 |
NIMBOEME_00180 |
132550 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3903G>A |
None |
M0201986 |
NIMBOEME_00180 |
132551 |
3 |
Gut |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3904G>A |
None |
M0201987 |
NIMBOEME_00185 |
132604 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
51A>G |
Pro17Pro |
M0201988 |
NIMBOEME_00185 |
132607 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
54T>G |
Pro18Pro |
M0201989 |
NIMBOEME_00185 |
132670 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
117A>G |
Thr39Thr |
M0201990 |
NIMBOEME_00185 |
132703 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
150C>T |
Ser50Ser |
M0201991 |
NIMBOEME_00185 |
132706 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
153A>C |
Arg51Arg |
M0201992 |
NIMBOEME_00185 |
132712 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
159A>G |
Glu53Glu |
M0201993 |
NIMBOEME_00185 |
132859 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
306C>A |
Ile102Ile |
M0201994 |
NIMBOEME_00185 |
132862 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
309G>C |
Ser103Ser |
M0201995 |
NIMBOEME_00185 |
132868 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
315T>C |
His105His |
M0201996 |
NIMBOEME_00185 |
132883 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
330G>A |
Lys110Lys |
M0201997 |
NIMBOEME_00185 |
132897 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
344T>C |
Met115Thr |
M0201998 |
NIMBOEME_00185 |
132908 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
355T>C |
Leu119Leu |
M0201999 |
NIMBOEME_00185 |
132919 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
366A>C |
Thr122Thr |
M0202000 |
NIMBOEME_00185 |
132948 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
395A>G |
Asn132Ser |
M0202001 |
NIMBOEME_00185 |
132961 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
408G>A |
Lys136Lys |
M0202002 |
NIMBOEME_00185 |
133015 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
462G>A |
Pro154Pro |
M0202003 |
NIMBOEME_00185 |
133204 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
651G>A |
Gln217Gln |
M0202004 |
NIMBOEME_00185 |
133225 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
672T>C |
Gly224Gly |
M0202005 |
NIMBOEME_00185 |
133238 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
685T>G |
Leu229Val |
M0202006 |
NIMBOEME_00185 |
133353 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
800C>T |
Ala267Val |
M0202007 |
NIMBOEME_00185 |
133354 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
801T>C |
Ala267Ala |
M0202008 |
NIMBOEME_00185 |
133382 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
829G>A |
Ala277Thr |
M0202009 |
NIMBOEME_00185 |
133436 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
883T>C |
Cys295Arg |
M0202010 |
NIMBOEME_00185 |
133494 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
941G>A |
Gly314Asp |
M0202011 |
NIMBOEME_00185 |
133495 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
942C>T |
Gly314Gly |
M0202012 |
NIMBOEME_00186 |
133861 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
194A>G |
Lys65Arg |
M0202013 |
NIMBOEME_00191 |
137973 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
159G>A |
Ser53Ser |
M0202014 |
NIMBOEME_00191 |
138067 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
253G>T |
Ala85Ser |
M0202015 |
NIMBOEME_00191 |
138111 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
297A>G |
Ser99Ser |
M0202016 |
NIMBOEME_00191 |
138147 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
333G>A |
Gln111Gln |
M0202017 |
NIMBOEME_00191 |
138203 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
389C>T |
Ala130Val |
M0202018 |
NIMBOEME_00191 |
138537 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
723T>C |
Pro241Pro |
M0202019 |
NIMBOEME_00191 |
138563 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
749G>A |
Arg250His |
M0202020 |
NIMBOEME_00191 |
138573 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
759T>C |
Asn253Asn |
M0202021 |
NIMBOEME_00191 |
138628 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
814G>A |
Asp272Asn |
M0202022 |
NIMBOEME_00191 |
138675 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
861G>A |
Lys287Lys |
M0202023 |
NIMBOEME_00191 |
138696 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
882C>T |
Asp294Asp |
M0202024 |
NIMBOEME_00191 |
138702 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
888T>C |
Asp296Asp |
M0202025 |
NIMBOEME_00191 |
138733 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
919A>G |
Ile307Val |
M0202026 |
NIMBOEME_00192 |
139953 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
93A>C |
Ser31Ser |
M0202027 |
NIMBOEME_00193 |
140468 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
444T>C |
His148His |
M0202028 |
NIMBOEME_00193 |
140581 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
331G>A |
Val111Met |
M0202029 |
NIMBOEME_00193 |
140682 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
230G>A |
Gly77Glu |
M0202030 |
NIMBOEME_00193 |
140807 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
105G>A |
Gln35Gln |
M0202031 |
NIMBOEME_00194 |
141455 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
3783T>C |
Gly1261Gly |
M0202032 |
NIMBOEME_00194 |
141829 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
3409G>A |
Asp1137Asn |
M0202033 |
NIMBOEME_00194 |
141920 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
3318T>C |
Ala1106Ala |
M0202034 |
NIMBOEME_00194 |
142223 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
3015T>C |
Ile1005Ile |
M0202035 |
NIMBOEME_00194 |
142439 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
2799T>C |
Asn933Asn |
M0202036 |
NIMBOEME_00194 |
143743 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1495G>A |
Ala499Thr |
M0202037 |
NIMBOEME_00199 |
147456 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
270A>G |
Pro90Pro |
M0202038 |
NIMBOEME_00199 |
147498 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
228G>T |
Leu76Leu |
M0202039 |
NIMBOEME_00199 |
147505 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
221T>C |
Val74Ala |
M0202040 |
NIMBOEME_00199 |
147511 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
215A>G |
Lys72Arg |
M0202041 |
NIMBOEME_00200 |
147820 |
3 |
Gut |
0.13 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
591A>G |
Ter197Ter |
M0202042 |
NIMBOEME_00236 |
174396 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1325G>A |
Gly442Asp |
M0202043 |
NIMBOEME_00236 |
174431 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1290C>T |
Asp430Asp |
M0202044 |
NIMBOEME_00236 |
174432 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1289A>C |
Asp430Ala |
M0202045 |
NIMBOEME_00236 |
174437 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1284T>C |
Asn428Asn |
M0202046 |
NIMBOEME_00236 |
174473 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1248A>G |
Glu416Glu |
M0202047 |
NIMBOEME_00236 |
174486 |
3 |
Gut |
0.13 |
protein_coding |
stop_gained |
HIGH |
1235T>A |
Leu412* |
M0202048 |
NIMBOEME_00236 |
174487 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1234T>A |
Leu412Met |
M0202049 |
NIMBOEME_00236 |
174555 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1166G>A |
Gly389Glu |
M0202050 |
NIMBOEME_00236 |
174566 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1155A>C |
Thr385Thr |
M0202051 |
NIMBOEME_00236 |
174588 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1133T>A |
Leu378Gln |
M0202052 |
NIMBOEME_00236 |
174590 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1131C>T |
Ile377Ile |
M0202053 |
NIMBOEME_00236 |
174617 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1104C>T |
Ser368Ser |
M0202054 |
NIMBOEME_00236 |
174643 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1078G>A |
Ala360Thr |
M0202055 |
NIMBOEME_00236 |
174647 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1074C>T |
Gly358Gly |
M0202056 |
NIMBOEME_00236 |
174668 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1053A>G |
Lys351Lys |
M0202057 |
NIMBOEME_00236 |
174706 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1015A>G |
Thr339Ala |
M0202058 |
NIMBOEME_00236 |
174711 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1010A>G |
Gln337Arg |
M0202059 |
NIMBOEME_00236 |
174721 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1000A>G |
Asn334Asp |
M0202060 |
NIMBOEME_00236 |
174807 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
914A>G |
His305Arg |
M0202061 |
NIMBOEME_00236 |
174823 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
898A>G |
Ser300Gly |
M0202062 |
NIMBOEME_00236 |
174863 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
858A>G |
Lys286Lys |
M0202063 |
NIMBOEME_00236 |
174878 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
843C>T |
Gly281Gly |
M0202064 |
NIMBOEME_00236 |
174884 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
837A>G |
Arg279Arg |
M0202065 |
NIMBOEME_00236 |
174886 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
835C>A |
Arg279Arg |
M0202066 |
NIMBOEME_00236 |
174894 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
827C>T |
Thr276Ile |
M0202067 |
NIMBOEME_00236 |
174895 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
826A>G |
Thr276Ala |
M0202068 |
NIMBOEME_00236 |
174897 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
824T>C |
Met275Thr |
M0202069 |
NIMBOEME_00236 |
174925 |
3 |
Gut |
0.13 |
protein_coding |
synonymous_variant |
LOW |
796C>T |
Leu266Leu |
M0202070 |
NIMBOEME_00236 |
174942 |
3 |
Gut |
0.13 |
protein_coding |
missense_variant |
MODERATE |
779A>G |
Lys260Arg |
Analysis of virulence factors contributing to bacterial pathogenicity
This table presents virulence factors identified within the plasmid cluster.
Note: Virulence factor analysis was performed using VFDB. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known virulence factors are listed.
Gene Name |
vf_gene_id |
vf_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
vf_category |
gene_description |
condition |
Analysis of biocide and heavy metal resistance genes to assess antimicrobial risk and environmental impact
This table presents biocides and heavy metals resistance genes identified within the plasmid cluster.
Note: Analyzing biocide and heavy metal resistance genes based on BacMet to evaluate bacterial resistance risk and the potential impact of environmental heavy metal contamination. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, E-value < 1e-5) to known biocide and heavy metal resistance genes are listed.
Gene Name |
compound |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
group |
Analyzing antimicrobial resistance genes to assess bacterial resistance to antibiotics and other antimicrobial agents
This table presents antimicrobial resistance genes identified within the plasmid cluster.
Note: Antimicrobial resistance was performed using CARD. Genes in plasmid clusters showing strong homology (identity > 70%, coverage > 70%, E-value < 1e-5) to known antimicrobial resistance genes are listed.
Gene Name |
aro_accession |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
drug_class |
amr_gene_family |
resistance_mechanism |
Analysis of pathogenicity genes to explore pathogen-host interactions
This table presents host pathogen-host interactions within the plasmid cluster.
Note: Analyzing pathogenicity-related genes using PHI-base to understand pathogen virulence mechanisms and their impact on host interactions. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e-5) to known pathogenicity-related genes are listed.
Gene Name |
phi_molconn_id |
host gene_name |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
host_descripton |
disease_name |
function |
phenotype_of_mutant |
Analyzing carbohydrate-active enzyme genes to uncover mechanisms of nutrient degradation
This table presents carbohydrate-active enzyme genes identified within the plasmid cluster.
Note: Annotation of carbohydrate-active enzyme genes was performed using CAZy to explore mechanisms of nutrient breakdown and utilization. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known CAZyme genes are listed.
Gene Name |
cazy_id |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
Analyzing transport proteins to understand bacterial strategies for substrate uptake and detoxification
This table presents transport proteins within the plasmid cluster.
Note: Investigation of transport proteins based on TCDB to uncover bacterial mechanisms of substrate transport and environmental detoxification. Genes in plasmid clusters showing strong homology (identity > 70%, subject coverage > 70%, and E-value < 1e−5) to known transport protein entries are listed.
Gene Name |
tcid |
identity |
evalue |
qstart |
qend |
query_coverage |
subject_coverage |
class_field |
class_term |
subclass |
subclass_term |
family |
family_term |