Annotation Categories of the Plasmid Cluster
Summary of the plasmid cluster
Basic Information about the Plasmid Cluster
Cluster Information |
Plasmid Cluster ID |
C3384 |
Reference Plasmid |
MGYG000299108__MGYG000299108_55 |
Reference Plasmid Size |
99071 |
Reference Plasmid GC Content |
0.40 |
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 |
M0138068 |
HOJOELEB_00042 |
55684 |
18 |
Oral |
0.78 |
protein_coding |
missense_variant |
MODERATE |
1255A>G |
Lys419Glu |
M0138069 |
HOJOELEB_00038 |
55741 |
15 |
Oral |
0.65 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4824A>G |
None |
M0138070 |
HOJOELEB_00038 |
55750 |
14 |
Oral |
0.61 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4833T>A |
None |
M0138071 |
HOJOELEB_00038 |
55804 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4887C>T |
None |
M0138072 |
HOJOELEB_00038 |
55806 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4889A>G |
None |
M0138073 |
HOJOELEB_00038 |
55844 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4927T>G |
None |
M0138074 |
HOJOELEB_00038 |
55846 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4929A>T |
None |
M0138075 |
HOJOELEB_00038 |
55853 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4936A>C |
None |
M0138076 |
HOJOELEB_00038 |
55856 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4939G>A |
None |
M0138077 |
HOJOELEB_00038 |
55862 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4945G>T |
None |
M0138078 |
HOJOELEB_00038 |
55864 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4947A>G |
None |
M0138079 |
HOJOELEB_00038 |
55869 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4952C>T |
None |
M0138080 |
HOJOELEB_00038 |
55873 |
12 |
Oral |
0.52 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4956A>G |
None |
M0138081 |
HOJOELEB_00038 |
55874 |
15 |
Oral |
0.65 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4957A>G |
None |
M0138082 |
HOJOELEB_00039 |
55975 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3572T>C |
None |
M0138083 |
HOJOELEB_00039 |
55983 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3580T>G |
None |
M0138084 |
HOJOELEB_00039 |
55984 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3581G>T |
None |
M0138085 |
HOJOELEB_00039 |
55985 |
12 |
Oral |
0.52 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3582A>G |
None |
M0138086 |
HOJOELEB_00039 |
55986 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3583G>C |
None |
M0138087 |
HOJOELEB_00039 |
56001 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3598G>A |
None |
M0138088 |
HOJOELEB_00039 |
56282 |
12 |
Oral |
0.52 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3879G>A |
None |
M0138089 |
HOJOELEB_00039 |
56286 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3883G>A |
None |
M0138090 |
HOJOELEB_00039 |
56327 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3924T>C |
None |
M0138091 |
HOJOELEB_00039 |
56403 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4000A>G |
None |
M0138092 |
HOJOELEB_00043 |
56563 |
12 |
Oral |
0.52 |
protein_coding |
missense_variant |
MODERATE |
5C>T |
Ala2Val |
M0138093 |
HOJOELEB_00043 |
56900 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
342T>A |
Leu114Leu |
M0138094 |
HOJOELEB_00043 |
57230 |
11 |
Oral |
0.48 |
protein_coding |
synonymous_variant |
LOW |
672T>C |
Thr224Thr |
M0138095 |
HOJOELEB_00043 |
57266 |
20 |
Oral |
0.87 |
protein_coding |
synonymous_variant |
LOW |
708T>C |
Asn236Asn |
M0138096 |
HOJOELEB_00043 |
57293 |
16 |
Oral |
0.70 |
protein_coding |
synonymous_variant |
LOW |
735A>T |
Arg245Arg |
M0138097 |
HOJOELEB_00043 |
57353 |
19 |
Oral |
0.83 |
protein_coding |
synonymous_variant |
LOW |
795T>C |
Asp265Asp |
M0138098 |
HOJOELEB_00043 |
57665 |
17 |
Oral |
0.74 |
protein_coding |
synonymous_variant |
LOW |
1107T>C |
Leu369Leu |
M0138099 |
HOJOELEB_00044 |
58039 |
9 |
Oral |
0.39 |
protein_coding |
missense_variant |
MODERATE |
280A>C |
Ile94Leu |
M0138100 |
HOJOELEB_00045 |
58349 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
87T>C |
Asp29Asp |
M0138101 |
HOJOELEB_00045 |
58583 |
19 |
Oral |
0.83 |
protein_coding |
synonymous_variant |
LOW |
321C>A |
Pro107Pro |
M0138102 |
HOJOELEB_00045 |
58622 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
360G>A |
Gln120Gln |
M0138103 |
HOJOELEB_00041 |
58831 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4737G>A |
None |
M0138104 |
HOJOELEB_00046 |
59044 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
678T>C |
Thr226Thr |
M0138105 |
HOJOELEB_00046 |
59230 |
13 |
Oral |
0.57 |
protein_coding |
synonymous_variant |
LOW |
492G>A |
Thr164Thr |
M0138106 |
HOJOELEB_00046 |
59233 |
11 |
Oral |
0.48 |
protein_coding |
synonymous_variant |
LOW |
489T>A |
Pro163Pro |
M0138107 |
HOJOELEB_00046 |
59247 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
475G>A |
Val159Ile |
M0138108 |
HOJOELEB_00046 |
59503 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
219T>C |
Ile73Ile |
M0138109 |
HOJOELEB_00046 |
59505 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
217A>G |
Ile73Val |
M0138110 |
HOJOELEB_00046 |
59617 |
19 |
Oral |
0.83 |
protein_coding |
synonymous_variant |
LOW |
105A>G |
Val35Val |
M0138111 |
HOJOELEB_00046 |
59661 |
19 |
Oral |
0.83 |
protein_coding |
missense_variant |
MODERATE |
61A>G |
Lys21Glu |
M0138112 |
HOJOELEB_00046 |
59677 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
45T>A |
Pro15Pro |
M0138113 |
HOJOELEB_00047 |
59824 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
351T>C |
Tyr117Tyr |
M0138114 |
HOJOELEB_00048 |
60260 |
13 |
Oral |
0.57 |
protein_coding |
synonymous_variant |
LOW |
402C>T |
Val134Val |
M0138115 |
HOJOELEB_00048 |
60350 |
14 |
Oral |
0.61 |
protein_coding |
synonymous_variant |
LOW |
312G>A |
Thr104Thr |
M0138116 |
HOJOELEB_00048 |
60395 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
267T>G |
Ala89Ala |
M0138117 |
HOJOELEB_00049 |
60666 |
17 |
Oral |
0.74 |
protein_coding |
missense_variant |
MODERATE |
496T>A |
Ser166Thr |
M0138118 |
HOJOELEB_00049 |
60897 |
16 |
Oral |
0.70 |
protein_coding |
missense_variant |
MODERATE |
265A>G |
Thr89Ala |
M0138119 |
HOJOELEB_00050 |
61419 |
5 |
Oral |
0.22 |
protein_coding |
splice_region_variant&stop_retained_variant |
LOW |
509G>A |
Ter170Ter |
M0138120 |
HOJOELEB_00050 |
61586 |
16 |
Oral |
0.70 |
protein_coding |
synonymous_variant |
LOW |
342A>T |
Ser114Ser |
M0138121 |
HOJOELEB_00050 |
61634 |
15 |
Oral |
0.65 |
protein_coding |
synonymous_variant |
LOW |
294C>T |
Val98Val |
M0138122 |
HOJOELEB_00050 |
61712 |
13 |
Oral |
0.57 |
protein_coding |
synonymous_variant |
LOW |
216A>T |
Pro72Pro |
M0138123 |
HOJOELEB_00050 |
61820 |
15 |
Oral |
0.65 |
protein_coding |
synonymous_variant |
LOW |
108T>C |
Cys36Cys |
M0138124 |
HOJOELEB_00046 |
61936 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2215A>G |
None |
M0138125 |
HOJOELEB_00046 |
61998 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2277C>A |
None |
M0138126 |
HOJOELEB_00046 |
62035 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2314T>A |
None |
M0138127 |
HOJOELEB_00051 |
62078 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
568G>A |
Ala190Thr |
M0138128 |
HOJOELEB_00051 |
62109 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
537A>G |
Leu179Leu |
M0138129 |
HOJOELEB_00051 |
62247 |
15 |
Oral |
0.65 |
protein_coding |
synonymous_variant |
LOW |
399A>G |
Gln133Gln |
M0138130 |
HOJOELEB_00051 |
62361 |
14 |
Oral |
0.61 |
protein_coding |
synonymous_variant |
LOW |
285A>G |
Lys95Lys |
M0138131 |
HOJOELEB_00051 |
62388 |
16 |
Oral |
0.70 |
protein_coding |
synonymous_variant |
LOW |
258G>A |
Gly86Gly |
M0138132 |
HOJOELEB_00051 |
62403 |
15 |
Oral |
0.65 |
protein_coding |
synonymous_variant |
LOW |
243T>C |
Asp81Asp |
M0138133 |
HOJOELEB_00051 |
62514 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
132A>T |
Ile44Ile |
M0138134 |
HOJOELEB_00051 |
62598 |
16 |
Oral |
0.70 |
protein_coding |
synonymous_variant |
LOW |
48A>G |
Arg16Arg |
M0138135 |
HOJOELEB_00046 |
62648 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2927G>T |
None |
M0138136 |
HOJOELEB_00052 |
62710 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
1173A>T |
Ala391Ala |
M0138137 |
HOJOELEB_00052 |
63238 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
645T>C |
Leu215Leu |
M0138138 |
HOJOELEB_00052 |
63715 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
168T>C |
Leu56Leu |
M0138139 |
HOJOELEB_00052 |
63766 |
14 |
Oral |
0.61 |
protein_coding |
synonymous_variant |
LOW |
117A>G |
Ala39Ala |
M0138140 |
HOJOELEB_00052 |
63787 |
11 |
Oral |
0.48 |
protein_coding |
synonymous_variant |
LOW |
96G>A |
Lys32Lys |
M0138141 |
HOJOELEB_00052 |
63814 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
69C>T |
Asp23Asp |
M0138142 |
HOJOELEB_00052 |
63873 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
10A>G |
Met4Val |
M0138143 |
HOJOELEB_00053 |
63941 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
180A>G |
Gln60Gln |
M0138144 |
HOJOELEB_00053 |
63983 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
138C>T |
Asp46Asp |
M0138145 |
HOJOELEB_00053 |
64046 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
75G>A |
Leu25Leu |
M0138146 |
HOJOELEB_00053 |
64048 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
73C>T |
Leu25Leu |
M0138147 |
HOJOELEB_00053 |
64058 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
63A>C |
Ile21Ile |
M0138148 |
HOJOELEB_00053 |
64071 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
50C>T |
Ala17Val |
M0138149 |
HOJOELEB_00046 |
64137 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4416A>G |
None |
M0138150 |
HOJOELEB_00046 |
64141 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4420G>A |
None |
M0138151 |
HOJOELEB_00054 |
64443 |
16 |
Oral |
0.70 |
protein_coding |
missense_variant |
MODERATE |
272T>C |
Ile91Thr |
M0138152 |
HOJOELEB_00054 |
64444 |
17 |
Oral |
0.74 |
protein_coding |
missense_variant |
MODERATE |
271A>G |
Ile91Val |
M0138153 |
HOJOELEB_00054 |
64445 |
15 |
Oral |
0.65 |
protein_coding |
missense_variant |
MODERATE |
270C>A |
Asp90Glu |
M0138154 |
HOJOELEB_00054 |
64547 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
168C>T |
Ala56Ala |
M0138155 |
HOJOELEB_00054 |
64577 |
17 |
Oral |
0.74 |
protein_coding |
synonymous_variant |
LOW |
138A>G |
Gln46Gln |
M0138156 |
HOJOELEB_00055 |
64855 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
709A>G |
Lys237Glu |
M0138157 |
HOJOELEB_00055 |
65012 |
16 |
Oral |
0.70 |
protein_coding |
synonymous_variant |
LOW |
552T>C |
Cys184Cys |
M0138158 |
HOJOELEB_00055 |
65068 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
496C>T |
Arg166Cys |
M0138159 |
HOJOELEB_00055 |
65101 |
11 |
Oral |
0.48 |
protein_coding |
missense_variant |
MODERATE |
463G>A |
Ala155Thr |
M0138160 |
HOJOELEB_00055 |
65105 |
15 |
Oral |
0.65 |
protein_coding |
synonymous_variant |
LOW |
459T>C |
Thr153Thr |
M0138161 |
HOJOELEB_00055 |
65261 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
303G>A |
Val101Val |
M0138162 |
HOJOELEB_00055 |
65498 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
66G>C |
Gly22Gly |
M0138163 |
HOJOELEB_00055 |
65531 |
16 |
Oral |
0.70 |
protein_coding |
synonymous_variant |
LOW |
33A>G |
Val11Val |
M0138164 |
HOJOELEB_00049 |
65718 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4557G>A |
None |
M0138165 |
HOJOELEB_00056 |
65880 |
12 |
Oral |
0.52 |
protein_coding |
synonymous_variant |
LOW |
135A>C |
Ala45Ala |
M0138166 |
HOJOELEB_00056 |
65901 |
12 |
Oral |
0.52 |
protein_coding |
synonymous_variant |
LOW |
156C>T |
Cys52Cys |
M0138167 |
HOJOELEB_00056 |
66122 |
16 |
Oral |
0.70 |
protein_coding |
missense_variant |
MODERATE |
377T>C |
Val126Ala |
M0138168 |
HOJOELEB_00056 |
66198 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
453T>C |
Ala151Ala |
M0138169 |
HOJOELEB_00056 |
66621 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
876C>T |
Phe292Phe |
M0138170 |
HOJOELEB_00057 |
66958 |
11 |
Oral |
0.48 |
protein_coding |
synonymous_variant |
LOW |
228T>C |
Asp76Asp |
M0138171 |
HOJOELEB_00057 |
66962 |
7 |
Oral |
0.30 |
protein_coding |
missense_variant |
MODERATE |
232A>G |
Ile78Val |
M0138172 |
HOJOELEB_00057 |
67039 |
14 |
Oral |
0.61 |
protein_coding |
synonymous_variant |
LOW |
309A>G |
Gln103Gln |
M0138173 |
HOJOELEB_00057 |
67042 |
14 |
Oral |
0.61 |
protein_coding |
synonymous_variant |
LOW |
312T>C |
Arg104Arg |
M0138174 |
HOJOELEB_00057 |
67072 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
342C>T |
Phe114Phe |
M0138175 |
HOJOELEB_00057 |
67162 |
13 |
Oral |
0.57 |
protein_coding |
synonymous_variant |
LOW |
432C>A |
Ile144Ile |
M0138176 |
HOJOELEB_00057 |
67234 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
504G>A |
Glu168Glu |
M0138177 |
HOJOELEB_00057 |
67423 |
10 |
Oral |
0.43 |
protein_coding |
synonymous_variant |
LOW |
693C>T |
Asp231Asp |
M0138178 |
HOJOELEB_00051 |
67484 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4839T>A |
None |
M0138179 |
HOJOELEB_00051 |
67485 |
17 |
Oral |
0.74 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4840T>G |
None |
M0138180 |
HOJOELEB_00051 |
67486 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4841T>A |
None |
M0138181 |
HOJOELEB_00051 |
67498 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4853T>C |
None |
M0138182 |
HOJOELEB_00051 |
67567 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4922T>C |
None |
M0138183 |
HOJOELEB_00051 |
67617 |
15 |
Oral |
0.65 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4972G>T |
None |
M0138184 |
HOJOELEB_00052 |
67735 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3853A>T |
None |
M0138185 |
HOJOELEB_00052 |
67805 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3923G>A |
None |
M0138186 |
HOJOELEB_00052 |
67843 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3961A>T |
None |
M0138187 |
HOJOELEB_00052 |
67864 |
18 |
Oral |
0.78 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3982A>G |
None |
M0138188 |
HOJOELEB_00052 |
67917 |
17 |
Oral |
0.74 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4035T>C |
None |
M0138189 |
HOJOELEB_00052 |
67937 |
18 |
Oral |
0.78 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4055A>G |
None |
M0138190 |
HOJOELEB_00058 |
68229 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
228G>A |
Pro76Pro |
M0138191 |
HOJOELEB_00058 |
68263 |
17 |
Oral |
0.74 |
protein_coding |
missense_variant |
MODERATE |
262T>C |
Cys88Arg |
M0138192 |
HOJOELEB_00058 |
68352 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
351G>A |
Gly117Gly |
M0138193 |
HOJOELEB_00058 |
68391 |
17 |
Oral |
0.74 |
protein_coding |
synonymous_variant |
LOW |
390T>A |
Leu130Leu |
M0138194 |
HOJOELEB_00058 |
68433 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
432G>A |
Gly144Gly |
M0138195 |
HOJOELEB_00058 |
68455 |
8 |
Oral |
0.35 |
protein_coding |
missense_variant |
MODERATE |
454A>G |
Asn152Asp |
M0138196 |
HOJOELEB_00058 |
68470 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
469C>T |
Pro157Ser |
M0138197 |
HOJOELEB_00058 |
69036 |
12 |
Oral |
0.52 |
protein_coding |
synonymous_variant |
LOW |
1035T>C |
Asn345Asn |
M0138198 |
HOJOELEB_00058 |
69093 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
1092G>A |
Gly364Gly |
M0138199 |
HOJOELEB_00054 |
69259 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4545G>T |
None |
M0138200 |
HOJOELEB_00054 |
69368 |
12 |
Oral |
0.52 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4654A>C |
None |
M0138201 |
HOJOELEB_00059 |
69453 |
12 |
Oral |
0.52 |
protein_coding |
missense_variant |
MODERATE |
1139A>G |
Lys380Arg |
M0138202 |
HOJOELEB_00059 |
69791 |
12 |
Oral |
0.52 |
protein_coding |
synonymous_variant |
LOW |
801A>G |
Thr267Thr |
M0138203 |
HOJOELEB_00059 |
70060 |
12 |
Oral |
0.52 |
protein_coding |
missense_variant |
MODERATE |
532A>G |
Asn178Asp |
M0138204 |
HOJOELEB_00059 |
70106 |
12 |
Oral |
0.52 |
protein_coding |
synonymous_variant |
LOW |
486C>T |
Arg162Arg |
M0138205 |
HOJOELEB_00059 |
70217 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
375T>C |
Thr125Thr |
M0138206 |
HOJOELEB_00059 |
70300 |
18 |
Oral |
0.78 |
protein_coding |
missense_variant |
MODERATE |
292A>C |
Met98Leu |
M0138207 |
HOJOELEB_00059 |
70460 |
10 |
Oral |
0.43 |
protein_coding |
synonymous_variant |
LOW |
132A>G |
Pro44Pro |
M0138208 |
HOJOELEB_00059 |
70588 |
16 |
Oral |
0.70 |
protein_coding |
missense_variant |
MODERATE |
4A>G |
Lys2Glu |
M0138209 |
HOJOELEB_00059 |
70604 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-13A>G |
None |
M0138210 |
HOJOELEB_00059 |
70615 |
17 |
Oral |
0.74 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-24T>G |
None |
M0138211 |
HOJOELEB_00059 |
70692 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-101C>T |
None |
M0138212 |
HOJOELEB_00059 |
70695 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-104A>G |
None |
M0138213 |
HOJOELEB_00059 |
70708 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-117G>A |
None |
M0138214 |
HOJOELEB_00059 |
70709 |
14 |
Oral |
0.61 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-118C>A |
None |
M0138215 |
HOJOELEB_00059 |
70723 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-132G>T |
None |
M0138216 |
HOJOELEB_00059 |
70724 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-133T>C |
None |
M0138217 |
HOJOELEB_00059 |
70747 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-156G>A |
None |
M0138218 |
HOJOELEB_00060 |
70804 |
16 |
Oral |
0.70 |
protein_coding |
synonymous_variant |
LOW |
486A>G |
Thr162Thr |
M0138219 |
HOJOELEB_00060 |
70870 |
14 |
Oral |
0.61 |
protein_coding |
synonymous_variant |
LOW |
420A>G |
Lys140Lys |
M0138220 |
HOJOELEB_00060 |
70896 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
394G>A |
Val132Ile |
M0138221 |
HOJOELEB_00060 |
71037 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
253G>A |
Val85Ile |
M0138222 |
HOJOELEB_00059 |
71309 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-718A>G |
None |
M0138223 |
HOJOELEB_00059 |
71397 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-806C>T |
None |
M0138224 |
HOJOELEB_00059 |
71439 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-848G>A |
None |
M0138225 |
HOJOELEB_00059 |
71440 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-849G>A |
None |
M0138226 |
HOJOELEB_00059 |
71659 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1068A>G |
None |
M0138227 |
HOJOELEB_00059 |
71680 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1089T>A |
None |
M0138228 |
HOJOELEB_00059 |
71713 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1122G>A |
None |
M0138229 |
HOJOELEB_00059 |
71734 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1143G>A |
None |
M0138230 |
HOJOELEB_00059 |
71740 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1149C>G |
None |
M0138231 |
HOJOELEB_00059 |
71745 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1154C>G |
None |
M0138232 |
HOJOELEB_00059 |
71749 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1158A>G |
None |
M0138233 |
HOJOELEB_00059 |
71757 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1166A>G |
None |
M0138234 |
HOJOELEB_00059 |
71768 |
14 |
Oral |
0.61 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1177A>G |
None |
M0138235 |
HOJOELEB_00059 |
71769 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1178T>G |
None |
M0138236 |
HOJOELEB_00059 |
71797 |
12 |
Oral |
0.52 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1206T>G |
None |
M0138237 |
HOJOELEB_00059 |
71885 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1294G>A |
None |
M0138238 |
HOJOELEB_00059 |
71889 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1298G>A |
None |
M0138239 |
HOJOELEB_00059 |
71890 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1299C>T |
None |
M0138240 |
HOJOELEB_00059 |
71899 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1308T>C |
None |
M0138241 |
HOJOELEB_00059 |
71913 |
14 |
Oral |
0.61 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1322G>A |
None |
M0138242 |
HOJOELEB_00059 |
71989 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1398A>T |
None |
M0138243 |
HOJOELEB_00059 |
72000 |
14 |
Oral |
0.61 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1409A>G |
None |
M0138244 |
HOJOELEB_00059 |
72035 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1444T>A |
None |
M0138245 |
HOJOELEB_00059 |
72096 |
16 |
Oral |
0.70 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1505T>C |
None |
M0138246 |
HOJOELEB_00062 |
72678 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
466C>A |
Arg156Arg |
M0138247 |
HOJOELEB_00062 |
72929 |
12 |
Oral |
0.52 |
protein_coding |
synonymous_variant |
LOW |
717T>C |
Phe239Phe |
M0138248 |
HOJOELEB_00062 |
72937 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
725C>T |
Thr242Ile |
M0138249 |
HOJOELEB_00062 |
73076 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
864G>A |
Arg288Arg |
M0138250 |
HOJOELEB_00063 |
73148 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
11G>A |
Gly4Asp |
M0138251 |
HOJOELEB_00062 |
73149 |
4 |
Oral |
0.17 |
protein_coding |
stop_lost&splice_region_variant |
HIGH |
937T>C |
Ter313Glnext*? |
M0138252 |
HOJOELEB_00063 |
73164 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
27T>A |
Asn9Lys |
M0138253 |
HOJOELEB_00063 |
73217 |
8 |
Oral |
0.35 |
protein_coding |
missense_variant |
MODERATE |
80T>C |
Val27Ala |
M0138254 |
HOJOELEB_00063 |
73290 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
153C>T |
Gly51Gly |
M0138255 |
HOJOELEB_00063 |
73332 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
195G>A |
Arg65Arg |
M0138256 |
HOJOELEB_00063 |
73335 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
198C>A |
Asn66Lys |
M0138257 |
HOJOELEB_00063 |
73338 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
201A>G |
Glu67Glu |
M0138258 |
HOJOELEB_00063 |
73358 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
221A>G |
Gln74Arg |
M0138259 |
HOJOELEB_00063 |
73504 |
7 |
Oral |
0.30 |
protein_coding |
missense_variant |
MODERATE |
367G>A |
Ala123Thr |
M0138260 |
HOJOELEB_00059 |
73548 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2957A>G |
None |
M0138261 |
HOJOELEB_00059 |
73602 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3011A>G |
None |
M0138262 |
HOJOELEB_00059 |
73628 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3037C>T |
None |
M0138263 |
HOJOELEB_00059 |
73653 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3062T>A |
None |
M0138264 |
HOJOELEB_00059 |
73655 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3064A>G |
None |
M0138265 |
HOJOELEB_00059 |
73656 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3065A>C |
None |
M0138266 |
HOJOELEB_00059 |
73657 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3066A>G |
None |
M0138267 |
HOJOELEB_00059 |
73686 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3095T>G |
None |
M0138268 |
HOJOELEB_00059 |
73716 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3125A>T |
None |
M0138269 |
HOJOELEB_00059 |
73771 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3180C>T |
None |
M0138270 |
HOJOELEB_00059 |
73779 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3188A>C |
None |
M0138271 |
HOJOELEB_00059 |
73817 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3226C>T |
None |
M0138272 |
HOJOELEB_00059 |
73820 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3229T>C |
None |
M0138273 |
HOJOELEB_00059 |
73852 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3261T>C |
None |
M0138274 |
HOJOELEB_00059 |
73853 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3262G>A |
None |
M0138275 |
HOJOELEB_00059 |
73862 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3271A>G |
None |
M0138276 |
HOJOELEB_00059 |
74280 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3689G>A |
None |
M0138277 |
HOJOELEB_00059 |
74289 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3698T>C |
None |
M0138278 |
HOJOELEB_00059 |
74301 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3710C>T |
None |
M0138279 |
HOJOELEB_00059 |
74307 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3716T>C |
None |
M0138280 |
HOJOELEB_00059 |
74338 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3747C>T |
None |
M0138281 |
HOJOELEB_00065 |
75245 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
732T>A |
Ala244Ala |
M0138282 |
HOJOELEB_00066 |
75384 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
246G>A |
Lys82Lys |
M0138283 |
HOJOELEB_00067 |
75845 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
462G>T |
Gly154Gly |
M0138284 |
HOJOELEB_00067 |
75869 |
10 |
Oral |
0.43 |
protein_coding |
synonymous_variant |
LOW |
438G>A |
Leu146Leu |
M0138285 |
HOJOELEB_00067 |
75884 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
423T>C |
Thr141Thr |
M0138286 |
HOJOELEB_00067 |
76085 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
222A>C |
Leu74Leu |
M0138287 |
HOJOELEB_00067 |
76178 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
129C>T |
Tyr43Tyr |
M0138288 |
HOJOELEB_00067 |
76186 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
121G>C |
Glu41Gln |
M0138289 |
HOJOELEB_00067 |
76208 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
99G>T |
Glu33Asp |
M0138290 |
HOJOELEB_00067 |
76241 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
66G>A |
Gln22Gln |
M0138291 |
HOJOELEB_00066 |
76313 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-684A>T |
None |
M0138292 |
HOJOELEB_00068 |
76483 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
636C>T |
Arg212Arg |
M0138293 |
HOJOELEB_00068 |
76738 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
381A>G |
Val127Val |
M0138294 |
HOJOELEB_00066 |
77240 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1611T>C |
None |
M0138295 |
HOJOELEB_00069 |
77683 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
180G>A |
Glu60Glu |
M0138296 |
HOJOELEB_00069 |
77686 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
177C>T |
Gly59Gly |
M0138297 |
HOJOELEB_00069 |
77746 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
117T>C |
Arg39Arg |
M0138298 |
HOJOELEB_00066 |
78049 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2420C>T |
None |
M0138299 |
HOJOELEB_00066 |
78056 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2427A>G |
None |
M0138300 |
HOJOELEB_00066 |
78116 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2487G>A |
None |
M0138301 |
HOJOELEB_00070 |
78438 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
459G>A |
Lys153Lys |
M0138302 |
HOJOELEB_00070 |
78558 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
339C>T |
Tyr113Tyr |
M0138303 |
HOJOELEB_00070 |
78831 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
66A>G |
Lys22Lys |
M0138304 |
HOJOELEB_00071 |
79032 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
879G>A |
Gln293Gln |
M0138305 |
HOJOELEB_00071 |
79187 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
724C>T |
Pro242Ser |
M0138306 |
HOJOELEB_00071 |
79437 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
474C>T |
Ser158Ser |
M0138307 |
HOJOELEB_00071 |
79777 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
134A>G |
Gln45Arg |
M0138308 |
HOJOELEB_00071 |
79798 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
113A>G |
Glu38Gly |
M0138309 |
HOJOELEB_00071 |
79799 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
112G>A |
Glu38Lys |
M0138310 |
HOJOELEB_00071 |
79898 |
7 |
Oral |
0.30 |
protein_coding |
missense_variant |
MODERATE |
13A>G |
Lys5Glu |
M0138311 |
HOJOELEB_00072 |
80281 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
538T>G |
Ser180Ala |
M0138312 |
HOJOELEB_00072 |
80355 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
464A>G |
Tyr155Cys |
M0138313 |
HOJOELEB_00072 |
80373 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
446G>A |
Arg149Lys |
M0138314 |
HOJOELEB_00072 |
80375 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
444A>G |
Gln148Gln |
M0138315 |
HOJOELEB_00072 |
80383 |
10 |
Oral |
0.43 |
protein_coding |
synonymous_variant |
LOW |
436T>C |
Leu146Leu |
M0138316 |
HOJOELEB_00072 |
80453 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
366T>C |
Phe122Phe |
M0138317 |
HOJOELEB_00072 |
80462 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
357A>G |
Thr119Thr |
M0138318 |
HOJOELEB_00072 |
80522 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
297A>G |
Lys99Lys |
M0138319 |
HOJOELEB_00072 |
80574 |
7 |
Oral |
0.30 |
protein_coding |
missense_variant |
MODERATE |
245A>G |
His82Arg |
M0138320 |
HOJOELEB_00072 |
80582 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
237G>A |
Lys79Lys |
M0138321 |
HOJOELEB_00067 |
80955 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4649G>T |
None |
M0138322 |
HOJOELEB_00067 |
80974 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4668G>A |
None |
M0138323 |
HOJOELEB_00067 |
80987 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4681A>G |
None |
M0138324 |
HOJOELEB_00073 |
81126 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
60C>T |
Asn20Asn |
M0138325 |
HOJOELEB_00073 |
81267 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
201G>A |
Ala67Ala |
M0138326 |
HOJOELEB_00073 |
81283 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
217G>A |
Asp73Asn |
M0138327 |
HOJOELEB_00073 |
81384 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
318A>G |
Thr106Thr |
M0138328 |
HOJOELEB_00073 |
81495 |
10 |
Oral |
0.43 |
protein_coding |
synonymous_variant |
LOW |
429T>C |
Ala143Ala |
M0138329 |
HOJOELEB_00073 |
81585 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
519C>T |
His173His |
M0138330 |
HOJOELEB_00073 |
81906 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
840T>G |
Thr280Thr |
M0138331 |
HOJOELEB_00073 |
81933 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
867A>C |
Gly289Gly |
M0138332 |
HOJOELEB_00068 |
82117 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4999T>C |
None |
M0138333 |
HOJOELEB_00069 |
82136 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4274A>T |
None |
M0138334 |
HOJOELEB_00069 |
82239 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4377T>C |
None |
M0138335 |
HOJOELEB_00069 |
82305 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4443G>A |
None |
M0138336 |
HOJOELEB_00069 |
82332 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4470T>C |
None |
M0138337 |
HOJOELEB_00069 |
82354 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4492G>A |
None |
M0138338 |
HOJOELEB_00069 |
82378 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4516C>T |
None |
M0138339 |
HOJOELEB_00069 |
82543 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4681T>C |
None |
M0138340 |
HOJOELEB_00069 |
82587 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4725T>C |
None |
M0138341 |
HOJOELEB_00069 |
82606 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4744C>T |
None |
M0138342 |
HOJOELEB_00069 |
82641 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4779A>G |
None |
M0138343 |
HOJOELEB_00069 |
82642 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4780A>T |
None |
M0138344 |
HOJOELEB_00069 |
82763 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4901A>G |
None |
M0138345 |
HOJOELEB_00074 |
83111 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
67G>A |
Glu23Lys |
M0138346 |
HOJOELEB_00074 |
83112 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
68A>T |
Glu23Val |
M0138347 |
HOJOELEB_00074 |
83114 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
70A>G |
Ile24Val |
M0138348 |
HOJOELEB_00074 |
83115 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
71T>A |
Ile24Asn |
M0138349 |
HOJOELEB_00074 |
83159 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
115A>G |
Asn39Asp |
M0138350 |
HOJOELEB_00074 |
83163 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
119C>T |
Pro40Leu |
M0138351 |
HOJOELEB_00074 |
83165 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
121C>T |
Pro41Ser |
M0138352 |
HOJOELEB_00074 |
83172 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
128G>A |
Arg43His |
M0138353 |
HOJOELEB_00075 |
83354 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
81A>C |
Val27Val |
M0138354 |
HOJOELEB_00075 |
83405 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
132G>T |
Gly44Gly |
M0138355 |
HOJOELEB_00075 |
83507 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
234T>C |
Asp78Asp |
M0138356 |
HOJOELEB_00075 |
83519 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
246C>A |
Ile82Ile |
M0138357 |
HOJOELEB_00075 |
83564 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
291G>A |
Thr97Thr |
M0138358 |
HOJOELEB_00075 |
83606 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
333C>T |
Pro111Pro |
M0138359 |
HOJOELEB_00075 |
83607 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
334A>G |
Asn112Asp |
M0138360 |
HOJOELEB_00075 |
83609 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
336C>T |
Asn112Asn |
M0138361 |
HOJOELEB_00075 |
84004 |
9 |
Oral |
0.39 |
protein_coding |
missense_variant |
MODERATE |
731G>C |
Arg244Thr |
M0138362 |
HOJOELEB_00075 |
84209 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
936G>A |
Lys312Lys |
M0138363 |
HOJOELEB_00075 |
84242 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
969A>C |
Arg323Ser |
M0138364 |
HOJOELEB_00075 |
84252 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
979C>A |
Leu327Ile |
M0138365 |
HOJOELEB_00075 |
84333 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
1060A>G |
Thr354Ala |
M0138366 |
HOJOELEB_00075 |
84334 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1061C>T |
Thr354Ile |
M0138367 |
HOJOELEB_00075 |
84336 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
1063A>G |
Asn355Asp |
M0138368 |
HOJOELEB_00075 |
84402 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
1129G>A |
Asp377Asn |
M0138369 |
HOJOELEB_00075 |
84404 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1131T>G |
Asp377Glu |
M0138370 |
HOJOELEB_00075 |
84410 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1137T>C |
Asn379Asn |
M0138371 |
HOJOELEB_00075 |
84532 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1259G>A |
Arg420Lys |
M0138372 |
HOJOELEB_00075 |
84540 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1267A>G |
Asn423Asp |
M0138373 |
HOJOELEB_00072 |
85626 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4808T>C |
None |
M0138374 |
HOJOELEB_00072 |
85649 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4831T>A |
None |
M0138375 |
HOJOELEB_00072 |
85695 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4877T>A |
None |
M0138376 |
HOJOELEB_00072 |
85696 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4878T>C |
None |
M0138377 |
HOJOELEB_00072 |
85735 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4917A>G |
None |
M0138378 |
HOJOELEB_00072 |
85804 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4986A>G |
None |
M0138379 |
HOJOELEB_00078 |
85830 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3592T>A |
None |
M0138380 |
HOJOELEB_00078 |
85885 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3537T>C |
None |
M0138381 |
HOJOELEB_00078 |
85931 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3491G>A |
None |
M0138382 |
HOJOELEB_00076 |
86237 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
615A>T |
Ile205Ile |
M0138383 |
HOJOELEB_00076 |
86306 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
546G>C |
Pro182Pro |
M0138384 |
HOJOELEB_00076 |
86336 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
516G>A |
Glu172Glu |
M0138385 |
HOJOELEB_00076 |
86627 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
225T>A |
Ile75Ile |
M0138386 |
HOJOELEB_00076 |
86900 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-49T>C |
None |
M0138387 |
HOJOELEB_00076 |
86926 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-75C>T |
None |
M0138388 |
HOJOELEB_00076 |
87012 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-161C>A |
None |
M0138389 |
HOJOELEB_00077 |
87189 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
2148C>G |
Leu716Leu |
M0138390 |
HOJOELEB_00077 |
87240 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
2097G>T |
Met699Ile |
M0138391 |
HOJOELEB_00077 |
87318 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
2019A>G |
Ala673Ala |
M0138392 |
HOJOELEB_00077 |
87333 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
2004T>A |
Ala668Ala |
M0138393 |
HOJOELEB_00077 |
87336 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
2001G>T |
Gly667Gly |
M0138394 |
HOJOELEB_00077 |
87411 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
1926C>T |
Phe642Phe |
M0138395 |
HOJOELEB_00077 |
87603 |
10 |
Oral |
0.43 |
protein_coding |
synonymous_variant |
LOW |
1734T>C |
Arg578Arg |
M0138396 |
HOJOELEB_00077 |
87615 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
1722T>C |
Phe574Phe |
M0138397 |
HOJOELEB_00077 |
87642 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1695G>T |
Ala565Ala |
M0138398 |
HOJOELEB_00077 |
87800 |
9 |
Oral |
0.39 |
protein_coding |
missense_variant |
MODERATE |
1537C>T |
Leu513Phe |
M0138399 |
HOJOELEB_00077 |
88137 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1200T>C |
Ser400Ser |
M0138400 |
HOJOELEB_00077 |
88238 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1099G>A |
Val367Ile |
M0138401 |
HOJOELEB_00077 |
88419 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
918G>A |
Thr306Thr |
M0138402 |
HOJOELEB_00077 |
88548 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
789T>C |
Ser263Ser |
M0138403 |
HOJOELEB_00077 |
88578 |
10 |
Oral |
0.43 |
protein_coding |
synonymous_variant |
LOW |
759A>T |
Ile253Ile |
M0138404 |
HOJOELEB_00077 |
88590 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
747A>T |
Pro249Pro |
M0138405 |
HOJOELEB_00077 |
88869 |
10 |
Oral |
0.43 |
protein_coding |
missense_variant |
MODERATE |
468A>T |
Lys156Asn |
M0138406 |
HOJOELEB_00077 |
89115 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
222G>A |
Pro74Pro |
M0138407 |
HOJOELEB_00077 |
89158 |
10 |
Oral |
0.43 |
protein_coding |
missense_variant |
MODERATE |
179A>G |
His60Arg |
M0138408 |
HOJOELEB_00077 |
89225 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
112T>C |
Leu38Leu |
M0138409 |
HOJOELEB_00076 |
89401 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2550A>C |
None |
M0138410 |
HOJOELEB_00078 |
89511 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
90A>C |
Pro30Pro |
M0138411 |
HOJOELEB_00078 |
89515 |
9 |
Oral |
0.39 |
protein_coding |
missense_variant |
MODERATE |
94G>A |
Val32Ile |
M0138412 |
HOJOELEB_00078 |
89517 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
96A>T |
Val32Val |
M0138413 |
HOJOELEB_00078 |
89522 |
9 |
Oral |
0.39 |
protein_coding |
missense_variant |
MODERATE |
101C>G |
Ala34Gly |
M0138414 |
HOJOELEB_00078 |
89523 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
102A>C |
Ala34Ala |
M0138415 |
HOJOELEB_00078 |
89567 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
146A>C |
Asp49Ala |
M0138416 |
HOJOELEB_00078 |
89619 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
198A>T |
Val66Val |
M0138417 |
HOJOELEB_00078 |
89651 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
230C>A |
Ala77Glu |
M0138418 |
HOJOELEB_00078 |
89652 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
231A>G |
Ala77Ala |
M0138419 |
HOJOELEB_00078 |
89666 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
245G>A |
Ser82Asn |
M0138420 |
HOJOELEB_00078 |
89674 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
253C>A |
Arg85Arg |
M0138421 |
HOJOELEB_00078 |
89677 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
256G>A |
Glu86Lys |
M0138422 |
HOJOELEB_00078 |
89760 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
339T>C |
Gly113Gly |
M0138423 |
HOJOELEB_00078 |
90027 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
606A>T |
Ile202Ile |
M0138424 |
HOJOELEB_00078 |
90153 |
10 |
Oral |
0.43 |
protein_coding |
synonymous_variant |
LOW |
732C>A |
Arg244Arg |
M0138425 |
HOJOELEB_00078 |
90161 |
9 |
Oral |
0.39 |
protein_coding |
missense_variant |
MODERATE |
740T>C |
Ile247Thr |
M0138426 |
HOJOELEB_00076 |
90190 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3339T>A |
None |
M0138427 |
HOJOELEB_00076 |
90191 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3340C>T |
None |
M0138428 |
HOJOELEB_00076 |
90303 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3452C>T |
None |
M0138429 |
HOJOELEB_00076 |
90345 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3494C>T |
None |
M0138430 |
HOJOELEB_00076 |
90357 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3506C>T |
None |
M0138431 |
HOJOELEB_00076 |
90358 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3507T>A |
None |
M0138432 |
HOJOELEB_00076 |
90385 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3534T>C |
None |
M0138433 |
HOJOELEB_00076 |
90386 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3535G>T |
None |
M0138434 |
HOJOELEB_00076 |
90391 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3540C>T |
None |
M0138435 |
HOJOELEB_00076 |
90393 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3542C>T |
None |
M0138436 |
HOJOELEB_00076 |
90430 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3579G>T |
None |
M0138437 |
HOJOELEB_00076 |
90466 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3615A>G |
None |
M0138438 |
HOJOELEB_00076 |
90505 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3654G>A |
None |
M0138439 |
HOJOELEB_00076 |
90520 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3669A>T |
None |
M0138440 |
HOJOELEB_00076 |
90576 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3725C>T |
None |
M0138441 |
HOJOELEB_00076 |
90698 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3847T>G |
None |
M0138442 |
HOJOELEB_00076 |
90729 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3878T>A |
None |
M0138443 |
HOJOELEB_00076 |
90746 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3895T>A |
None |
M0138444 |
HOJOELEB_00076 |
90802 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3951A>T |
None |
M0138445 |
HOJOELEB_00076 |
90890 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4039G>A |
None |
M0138446 |
HOJOELEB_00079 |
91007 |
9 |
Oral |
0.39 |
protein_coding |
missense_variant |
MODERATE |
907T>A |
Cys303Ser |
M0138447 |
HOJOELEB_00079 |
91096 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
818A>G |
Asn273Ser |
M0138448 |
HOJOELEB_00079 |
91099 |
9 |
Oral |
0.39 |
protein_coding |
missense_variant |
MODERATE |
815C>T |
Thr272Ile |
M0138449 |
HOJOELEB_00079 |
91167 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
747G>A |
Gln249Gln |
M0138450 |
HOJOELEB_00079 |
91175 |
9 |
Oral |
0.39 |
protein_coding |
missense_variant |
MODERATE |
739T>A |
Ser247Thr |
M0138451 |
HOJOELEB_00079 |
91196 |
9 |
Oral |
0.39 |
protein_coding |
missense_variant |
MODERATE |
718C>A |
Leu240Met |
M0138452 |
HOJOELEB_00079 |
91317 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
597A>G |
Ile199Met |
M0138453 |
HOJOELEB_00079 |
91376 |
9 |
Oral |
0.39 |
protein_coding |
missense_variant |
MODERATE |
538C>T |
Leu180Phe |
M0138454 |
HOJOELEB_00079 |
91416 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
498G>A |
Glu166Glu |
M0138455 |
HOJOELEB_00079 |
91497 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
417A>G |
Glu139Glu |
M0138456 |
HOJOELEB_00079 |
91656 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
258T>C |
Asp86Asp |
M0138457 |
HOJOELEB_00079 |
91737 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
177C>T |
Asn59Asn |
M0138458 |
HOJOELEB_00079 |
91743 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
171C>A |
Thr57Thr |
M0138459 |
HOJOELEB_00079 |
91764 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
150A>T |
Gly50Gly |
M0138460 |
HOJOELEB_00079 |
91905 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
9A>T |
Thr3Thr |
M0138461 |
HOJOELEB_00080 |
91996 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
2274G>T |
Ser758Ser |
M0138462 |
HOJOELEB_00080 |
92052 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
2218G>T |
Ala740Ser |
M0138463 |
HOJOELEB_00080 |
93310 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
960G>A |
Thr320Thr |
M0138464 |
HOJOELEB_00080 |
93313 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
957C>T |
Asn319Asn |
M0138465 |
HOJOELEB_00080 |
93319 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
951T>C |
Asn317Asn |
M0138466 |
HOJOELEB_00080 |
93736 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
534T>C |
Phe178Phe |
M0138467 |
HOJOELEB_00081 |
94433 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
84T>C |
Phe28Phe |
M0138468 |
HOJOELEB_00081 |
94670 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
321A>G |
Ala107Ala |
M0138469 |
HOJOELEB_00081 |
94781 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
432A>G |
Ser144Ser |
M0138470 |
HOJOELEB_00081 |
94844 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
495C>T |
Cys165Cys |
M0138471 |
HOJOELEB_00081 |
95294 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
945A>G |
Gln315Gln |
M0138472 |
HOJOELEB_00079 |
96069 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4156A>G |
None |
M0138473 |
HOJOELEB_00079 |
96105 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4192G>C |
None |
M0138474 |
HOJOELEB_00083 |
96671 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
420T>C |
Asp140Asp |
M0138475 |
HOJOELEB_00083 |
96680 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
429G>T |
Thr143Thr |
M0138476 |
HOJOELEB_00083 |
97118 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
867T>C |
Ser289Ser |
M0138477 |
HOJOELEB_00083 |
97304 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
1053T>C |
Thr351Thr |
M0138478 |
HOJOELEB_00083 |
97352 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1101A>C |
Thr367Thr |
M0138479 |
HOJOELEB_00083 |
97509 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
1258A>G |
Asn420Asp |
M0138480 |
HOJOELEB_00083 |
97510 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
1259A>G |
Asn420Ser |
M0138481 |
HOJOELEB_00080 |
97642 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3373C>A |
None |
M0138482 |
HOJOELEB_00080 |
97749 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3480A>G |
None |
M0138483 |
HOJOELEB_00080 |
97764 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3495A>G |
None |
M0138484 |
HOJOELEB_00080 |
97765 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3496G>T |
None |
M0138485 |
HOJOELEB_00080 |
97779 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3510T>A |
None |
M0138486 |
HOJOELEB_00080 |
97804 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3535T>G |
None |
M0138487 |
HOJOELEB_00080 |
97868 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3599A>C |
None |
M0138488 |
HOJOELEB_00080 |
97973 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3704C>T |
None |
M0138489 |
HOJOELEB_00080 |
97980 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3711G>A |
None |
M0138490 |
HOJOELEB_00080 |
98005 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3736T>C |
None |
M0138491 |
HOJOELEB_00080 |
98045 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3776A>T |
None |
M0138492 |
HOJOELEB_00080 |
98120 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3851T>A |
None |
M0138493 |
HOJOELEB_00080 |
98132 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3863T>C |
None |
M0138494 |
HOJOELEB_00080 |
98164 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3895C>T |
None |
M0138495 |
HOJOELEB_00080 |
98183 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3914A>T |
None |
M0138496 |
HOJOELEB_00080 |
98218 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3949A>G |
None |
M0138497 |
HOJOELEB_00080 |
98253 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3984T>C |
None |
M0138498 |
HOJOELEB_00080 |
98266 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3997G>A |
None |
M0138499 |
HOJOELEB_00080 |
98313 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4044A>T |
None |
M0138500 |
HOJOELEB_00080 |
98347 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4078C>A |
None |
M0138501 |
HOJOELEB_00080 |
98368 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4099C>T |
None |
M0138502 |
HOJOELEB_00080 |
98370 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4101A>G |
None |
M0138503 |
HOJOELEB_00080 |
98431 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4162G>A |
None |
M0138504 |
HOJOELEB_00080 |
98465 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4196C>T |
None |
M0138505 |
HOJOELEB_00080 |
98468 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4199C>T |
None |
M0138506 |
HOJOELEB_00080 |
98601 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4332A>G |
None |
M0138507 |
HOJOELEB_00084 |
98608 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
5A>G |
Lys2Arg |
M0138508 |
HOJOELEB_00084 |
98609 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
6G>A |
Lys2Lys |
M0138509 |
HOJOELEB_00084 |
98738 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
135A>G |
Ala45Ala |
M0138510 |
HOJOELEB_00084 |
98807 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
204T>A |
Ile68Ile |
M0138511 |
HOJOELEB_00084 |
98834 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
231T>C |
Ala77Ala |
M0138512 |
HOJOELEB_00001 |
506 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*212A>G |
None |
M0138513 |
HOJOELEB_00001 |
512 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*206A>G |
None |
M0138514 |
HOJOELEB_00001 |
688 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*30T>C |
None |
M0138515 |
HOJOELEB_00001 |
1284 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1549C>G |
Gln517Glu |
M0138516 |
HOJOELEB_00001 |
1285 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1548A>C |
Pro516Pro |
M0138517 |
HOJOELEB_00001 |
1288 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1545T>C |
Tyr515Tyr |
M0138518 |
HOJOELEB_00001 |
1291 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1542C>A |
Ile514Ile |
M0138519 |
HOJOELEB_00001 |
1297 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1536G>A |
Glu512Glu |
M0138520 |
HOJOELEB_00001 |
1300 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1533T>A |
Ala511Ala |
M0138521 |
HOJOELEB_00001 |
1303 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1530G>A |
Gln510Gln |
M0138522 |
HOJOELEB_00001 |
1317 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1516G>T |
Gly506Cys |
M0138523 |
HOJOELEB_00001 |
1357 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1476G>A |
Thr492Thr |
M0138524 |
HOJOELEB_00001 |
2548 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
285T>C |
Asp95Asp |
M0138525 |
HOJOELEB_00001 |
2605 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
228A>G |
Gln76Gln |
M0138526 |
HOJOELEB_00001 |
3233 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-401A>G |
None |
M0138527 |
HOJOELEB_00043 |
57026 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
468C>T |
Asp156Asp |
M0138528 |
HOJOELEB_00045 |
58505 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
243T>C |
Asn81Asn |
M0138529 |
HOJOELEB_00046 |
59200 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
522T>C |
Arg174Arg |
M0138530 |
HOJOELEB_00046 |
59215 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
507G>A |
Thr169Thr |
M0138531 |
HOJOELEB_00046 |
59689 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
33G>T |
Ala11Ala |
M0138532 |
HOJOELEB_00049 |
60967 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
195T>A |
Gly65Gly |
M0138533 |
HOJOELEB_00049 |
61084 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
78A>G |
Gly26Gly |
M0138534 |
HOJOELEB_00046 |
61294 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1573A>G |
None |
M0138535 |
HOJOELEB_00019 |
28269 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4898C>T |
None |
M0138536 |
HOJOELEB_00019 |
28273 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4902T>C |
None |
M0138537 |
HOJOELEB_00020 |
28439 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4519T>C |
None |
M0138538 |
HOJOELEB_00020 |
28544 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4624C>T |
None |
M0138539 |
HOJOELEB_00020 |
28547 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4627A>G |
None |
M0138540 |
HOJOELEB_00020 |
28548 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4628C>T |
None |
M0138541 |
HOJOELEB_00024 |
29091 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
18A>C |
Ile6Ile |
M0138542 |
HOJOELEB_00024 |
29307 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
234A>G |
Thr78Thr |
M0138543 |
HOJOELEB_00024 |
29352 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
279C>T |
Pro93Pro |
M0138544 |
HOJOELEB_00024 |
29475 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
402A>C |
Arg134Arg |
M0138545 |
HOJOELEB_00024 |
29646 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
573G>A |
Thr191Thr |
M0138546 |
HOJOELEB_00024 |
29658 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
585T>C |
Ser195Ser |
M0138547 |
HOJOELEB_00024 |
29659 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
586T>C |
Leu196Leu |
M0138548 |
HOJOELEB_00024 |
29970 |
7 |
Oral |
0.30 |
protein_coding |
missense_variant |
MODERATE |
897C>A |
Asn299Lys |
M0138549 |
HOJOELEB_00024 |
30636 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1563T>A |
Gly521Gly |
M0138550 |
HOJOELEB_00022 |
30974 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4299A>G |
None |
M0138551 |
HOJOELEB_00025 |
33401 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-365A>C |
None |
M0138552 |
HOJOELEB_00025 |
33549 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-513T>G |
None |
M0138553 |
HOJOELEB_00025 |
33573 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-537A>G |
None |
M0138554 |
HOJOELEB_00025 |
33581 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-545G>A |
None |
M0138555 |
HOJOELEB_00025 |
33587 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-551A>G |
None |
M0138556 |
HOJOELEB_00025 |
33621 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-585A>G |
None |
M0138557 |
HOJOELEB_00025 |
33634 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-598T>C |
None |
M0138558 |
HOJOELEB_00025 |
33650 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-614T>G |
None |
M0138559 |
HOJOELEB_00025 |
33719 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-683G>A |
None |
M0138560 |
HOJOELEB_00025 |
33736 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-700T>C |
None |
M0138561 |
HOJOELEB_00025 |
33952 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-916A>G |
None |
M0138562 |
HOJOELEB_00027 |
34048 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
80C>G |
Thr27Ser |
M0138563 |
HOJOELEB_00027 |
34355 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
387T>A |
Leu129Leu |
M0138564 |
HOJOELEB_00027 |
34448 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
480A>G |
Leu160Leu |
M0138565 |
HOJOELEB_00027 |
34460 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
492T>A |
Thr164Thr |
M0138566 |
HOJOELEB_00027 |
34538 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
570A>T |
Pro190Pro |
M0138567 |
HOJOELEB_00027 |
34622 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
654T>C |
Arg218Arg |
M0138568 |
HOJOELEB_00027 |
34659 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
691G>A |
Val231Ile |
M0138569 |
HOJOELEB_00027 |
34734 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
766A>G |
Ile256Val |
M0138570 |
HOJOELEB_00027 |
35501 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
1533C>T |
Ile511Ile |
M0138571 |
HOJOELEB_00027 |
35570 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1602T>C |
Tyr534Tyr |
M0138572 |
HOJOELEB_00027 |
35604 |
8 |
Oral |
0.35 |
protein_coding |
missense_variant |
MODERATE |
1636A>G |
Asn546Asp |
M0138573 |
HOJOELEB_00027 |
35630 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1662T>C |
Ala554Ala |
M0138574 |
HOJOELEB_00027 |
35690 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1722T>C |
Arg574Arg |
M0138575 |
HOJOELEB_00027 |
36035 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2067T>A |
Thr689Thr |
M0138576 |
HOJOELEB_00027 |
36170 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
2202A>G |
Val734Val |
M0138577 |
HOJOELEB_00027 |
36215 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
2247A>G |
Lys749Lys |
M0138578 |
HOJOELEB_00027 |
36286 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
2318C>A |
Thr773Lys |
M0138579 |
HOJOELEB_00027 |
36407 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2439A>G |
Gln813Gln |
M0138580 |
HOJOELEB_00027 |
36468 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
2500C>G |
Leu834Val |
M0138581 |
HOJOELEB_00025 |
36506 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3470C>T |
None |
M0138582 |
HOJOELEB_00025 |
36518 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3482G>T |
None |
M0138583 |
HOJOELEB_00025 |
36519 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3483G>T |
None |
M0138584 |
HOJOELEB_00025 |
36540 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3504C>G |
None |
M0138585 |
HOJOELEB_00025 |
36619 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3583A>G |
None |
M0138586 |
HOJOELEB_00025 |
36622 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3586G>A |
None |
M0138587 |
HOJOELEB_00025 |
36623 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3587T>C |
None |
M0138588 |
HOJOELEB_00025 |
36625 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3589G>T |
None |
M0138589 |
HOJOELEB_00025 |
36631 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3595T>C |
None |
M0138590 |
HOJOELEB_00025 |
36794 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3758C>T |
None |
M0138591 |
HOJOELEB_00025 |
36796 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3760T>A |
None |
M0138592 |
HOJOELEB_00025 |
36799 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3763A>G |
None |
M0138593 |
HOJOELEB_00025 |
36800 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3764A>G |
None |
M0138594 |
HOJOELEB_00025 |
36830 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3794A>T |
None |
M0138595 |
HOJOELEB_00025 |
36872 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3836G>T |
None |
M0138596 |
HOJOELEB_00025 |
36916 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3880A>G |
None |
M0138597 |
HOJOELEB_00025 |
36932 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3896G>A |
None |
M0138598 |
HOJOELEB_00025 |
36934 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3898C>T |
None |
M0138599 |
HOJOELEB_00025 |
36940 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3904T>C |
None |
M0138600 |
HOJOELEB_00025 |
36956 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3920G>A |
None |
M0138601 |
HOJOELEB_00028 |
37070 |
9 |
Oral |
0.39 |
protein_coding |
missense_variant |
MODERATE |
26T>C |
Ile9Thr |
M0138602 |
HOJOELEB_00028 |
37290 |
12 |
Oral |
0.52 |
protein_coding |
synonymous_variant |
LOW |
246T>C |
Tyr82Tyr |
M0138603 |
HOJOELEB_00028 |
37599 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
555A>C |
Thr185Thr |
M0138604 |
HOJOELEB_00028 |
37852 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
808C>T |
Leu270Leu |
M0138605 |
HOJOELEB_00028 |
37978 |
11 |
Oral |
0.48 |
protein_coding |
synonymous_variant |
LOW |
934T>C |
Leu312Leu |
M0138606 |
HOJOELEB_00028 |
38025 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
981T>A |
Ala327Ala |
M0138607 |
HOJOELEB_00026 |
38149 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4902A>C |
None |
M0138608 |
HOJOELEB_00026 |
38159 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4912C>T |
None |
M0138609 |
HOJOELEB_00029 |
38323 |
8 |
Oral |
0.35 |
protein_coding |
missense_variant |
MODERATE |
28A>G |
Ile10Val |
M0138610 |
HOJOELEB_00029 |
38382 |
10 |
Oral |
0.43 |
protein_coding |
synonymous_variant |
LOW |
87G>A |
Gln29Gln |
M0138611 |
HOJOELEB_00029 |
38407 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
112A>G |
Met38Val |
M0138612 |
HOJOELEB_00029 |
38600 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
305G>A |
Gly102Asp |
M0138613 |
HOJOELEB_00029 |
38615 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
320G>C |
Gly107Ala |
M0138614 |
HOJOELEB_00029 |
38631 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
336T>C |
Asp112Asp |
M0138615 |
HOJOELEB_00029 |
38701 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
406A>G |
Thr136Ala |
M0138616 |
HOJOELEB_00029 |
38781 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
486C>T |
Tyr162Tyr |
M0138617 |
HOJOELEB_00029 |
38889 |
10 |
Oral |
0.43 |
protein_coding |
synonymous_variant |
LOW |
594T>C |
Asn198Asn |
M0138618 |
HOJOELEB_00029 |
39111 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
816G>A |
Val272Val |
M0138619 |
HOJOELEB_00030 |
39832 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
651A>T |
Ala217Ala |
M0138620 |
HOJOELEB_00030 |
39855 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
674A>G |
Lys225Arg |
M0138621 |
HOJOELEB_00027 |
40000 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3500C>T |
None |
M0138622 |
HOJOELEB_00027 |
40025 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3525C>A |
None |
M0138623 |
HOJOELEB_00027 |
40026 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3526C>T |
None |
M0138624 |
HOJOELEB_00027 |
40027 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3527A>G |
None |
M0138625 |
HOJOELEB_00027 |
40097 |
10 |
Oral |
0.43 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3597A>C |
None |
M0138626 |
HOJOELEB_00027 |
40173 |
9 |
Oral |
0.39 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3673G>A |
None |
M0138627 |
HOJOELEB_00027 |
40175 |
9 |
Oral |
0.39 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3675A>G |
None |
M0138628 |
HOJOELEB_00027 |
40225 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3725C>T |
None |
M0138629 |
HOJOELEB_00027 |
40314 |
17 |
Oral |
0.74 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3814A>G |
None |
M0138630 |
HOJOELEB_00027 |
40315 |
17 |
Oral |
0.74 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3815G>A |
None |
M0138631 |
HOJOELEB_00027 |
40318 |
13 |
Oral |
0.57 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3818A>G |
None |
M0138632 |
HOJOELEB_00027 |
40559 |
9 |
Oral |
0.39 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4059A>C |
None |
M0138633 |
HOJOELEB_00027 |
40631 |
16 |
Oral |
0.70 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4131A>G |
None |
M0138634 |
HOJOELEB_00035 |
40809 |
16 |
Oral |
0.70 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4852C>G |
None |
M0138635 |
HOJOELEB_00035 |
40893 |
15 |
Oral |
0.65 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4768A>G |
None |
M0138636 |
HOJOELEB_00035 |
40910 |
15 |
Oral |
0.65 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4751G>A |
None |
M0138637 |
HOJOELEB_00031 |
41173 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
1197C>T |
Thr399Thr |
M0138638 |
HOJOELEB_00031 |
41239 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1131T>C |
Arg377Arg |
M0138639 |
HOJOELEB_00031 |
41380 |
14 |
Oral |
0.61 |
protein_coding |
synonymous_variant |
LOW |
990T>C |
Thr330Thr |
M0138640 |
HOJOELEB_00031 |
41386 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
984A>G |
Lys328Lys |
M0138641 |
HOJOELEB_00031 |
41428 |
16 |
Oral |
0.70 |
protein_coding |
synonymous_variant |
LOW |
942C>T |
Leu314Leu |
M0138642 |
HOJOELEB_00031 |
41485 |
14 |
Oral |
0.61 |
protein_coding |
synonymous_variant |
LOW |
885C>T |
Phe295Phe |
M0138643 |
HOJOELEB_00031 |
41656 |
16 |
Oral |
0.70 |
protein_coding |
missense_variant |
MODERATE |
714T>G |
Asn238Lys |
M0138644 |
HOJOELEB_00031 |
41657 |
16 |
Oral |
0.70 |
protein_coding |
missense_variant |
MODERATE |
713A>T |
Asn238Ile |
M0138645 |
HOJOELEB_00031 |
41828 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
542T>G |
Val181Gly |
M0138646 |
HOJOELEB_00031 |
41933 |
11 |
Oral |
0.48 |
protein_coding |
missense_variant |
MODERATE |
437C>T |
Ser146Leu |
M0138647 |
HOJOELEB_00031 |
41950 |
13 |
Oral |
0.57 |
protein_coding |
missense_variant |
MODERATE |
420A>C |
Glu140Asp |
M0138648 |
HOJOELEB_00031 |
42301 |
11 |
Oral |
0.48 |
protein_coding |
synonymous_variant |
LOW |
69C>T |
Asp23Asp |
M0138649 |
HOJOELEB_00032 |
42510 |
15 |
Oral |
0.65 |
protein_coding |
synonymous_variant |
LOW |
147T>C |
Ala49Ala |
M0138650 |
HOJOELEB_00032 |
42513 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
144C>T |
Gly48Gly |
M0138651 |
HOJOELEB_00033 |
42823 |
15 |
Oral |
0.65 |
protein_coding |
synonymous_variant |
LOW |
1281C>T |
Tyr427Tyr |
M0138652 |
HOJOELEB_00033 |
42988 |
12 |
Oral |
0.52 |
protein_coding |
synonymous_variant |
LOW |
1116T>A |
Thr372Thr |
M0138653 |
HOJOELEB_00033 |
43006 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1098T>A |
Ala366Ala |
M0138654 |
HOJOELEB_00033 |
43260 |
10 |
Oral |
0.43 |
protein_coding |
missense_variant |
MODERATE |
844A>G |
Lys282Glu |
M0138655 |
HOJOELEB_00033 |
43309 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
795A>G |
Gln265Gln |
M0138656 |
HOJOELEB_00033 |
43453 |
17 |
Oral |
0.74 |
protein_coding |
synonymous_variant |
LOW |
651C>T |
Gly217Gly |
M0138657 |
HOJOELEB_00033 |
43795 |
11 |
Oral |
0.48 |
protein_coding |
synonymous_variant |
LOW |
309G>A |
Lys103Lys |
M0138658 |
HOJOELEB_00034 |
44335 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
789C>T |
Thr263Thr |
M0138659 |
HOJOELEB_00034 |
44527 |
15 |
Oral |
0.65 |
protein_coding |
synonymous_variant |
LOW |
597C>T |
Asp199Asp |
M0138660 |
HOJOELEB_00034 |
44557 |
12 |
Oral |
0.52 |
protein_coding |
synonymous_variant |
LOW |
567C>A |
Thr189Thr |
M0138661 |
HOJOELEB_00034 |
44698 |
12 |
Oral |
0.52 |
protein_coding |
synonymous_variant |
LOW |
426A>T |
Ala142Ala |
M0138662 |
HOJOELEB_00034 |
44701 |
13 |
Oral |
0.57 |
protein_coding |
synonymous_variant |
LOW |
423G>A |
Lys141Lys |
M0138663 |
HOJOELEB_00031 |
45218 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2849A>G |
None |
M0138664 |
HOJOELEB_00031 |
45249 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2880T>C |
None |
M0138665 |
HOJOELEB_00031 |
45310 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2941C>T |
None |
M0138666 |
HOJOELEB_00031 |
45387 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3018A>G |
None |
M0138667 |
HOJOELEB_00031 |
45389 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3020G>A |
None |
M0138668 |
HOJOELEB_00031 |
45396 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3027T>C |
None |
M0138669 |
HOJOELEB_00031 |
45414 |
17 |
Oral |
0.74 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3045T>C |
None |
M0138670 |
HOJOELEB_00031 |
45429 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3060A>G |
None |
M0138671 |
HOJOELEB_00031 |
45529 |
17 |
Oral |
0.74 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3160T>C |
None |
M0138672 |
HOJOELEB_00031 |
45552 |
17 |
Oral |
0.74 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3183T>C |
None |
M0138673 |
HOJOELEB_00031 |
45611 |
17 |
Oral |
0.74 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3242T>G |
None |
M0138674 |
HOJOELEB_00031 |
45614 |
17 |
Oral |
0.74 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3245C>T |
None |
M0138675 |
HOJOELEB_00031 |
45647 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3278T>C |
None |
M0138676 |
HOJOELEB_00031 |
45660 |
17 |
Oral |
0.74 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3291T>C |
None |
M0138677 |
HOJOELEB_00035 |
45817 |
10 |
Oral |
0.43 |
protein_coding |
missense_variant |
MODERATE |
157T>C |
Phe53Leu |
M0138678 |
HOJOELEB_00035 |
45834 |
16 |
Oral |
0.70 |
protein_coding |
synonymous_variant |
LOW |
174C>T |
Gly58Gly |
M0138679 |
HOJOELEB_00035 |
46018 |
16 |
Oral |
0.70 |
protein_coding |
missense_variant |
MODERATE |
358G>A |
Asp120Asn |
M0138680 |
HOJOELEB_00031 |
46125 |
16 |
Oral |
0.70 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3756T>C |
None |
M0138681 |
HOJOELEB_00031 |
46141 |
14 |
Oral |
0.61 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3772A>G |
None |
M0138682 |
HOJOELEB_00031 |
46142 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3773T>G |
None |
M0138683 |
HOJOELEB_00031 |
46147 |
16 |
Oral |
0.70 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3778A>G |
None |
M0138684 |
HOJOELEB_00031 |
46169 |
16 |
Oral |
0.70 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3800T>C |
None |
M0138685 |
HOJOELEB_00031 |
46219 |
15 |
Oral |
0.65 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3850C>T |
None |
M0138686 |
HOJOELEB_00031 |
46305 |
12 |
Oral |
0.52 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3936A>G |
None |
M0138687 |
HOJOELEB_00031 |
46306 |
12 |
Oral |
0.52 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3937T>A |
None |
M0138688 |
HOJOELEB_00031 |
46315 |
14 |
Oral |
0.61 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3946T>C |
None |
M0138689 |
HOJOELEB_00031 |
46369 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4000G>A |
None |
M0138690 |
HOJOELEB_00031 |
46404 |
12 |
Oral |
0.52 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4035A>G |
None |
M0138691 |
HOJOELEB_00031 |
46417 |
12 |
Oral |
0.52 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4048G>T |
None |
M0138692 |
HOJOELEB_00031 |
46424 |
15 |
Oral |
0.65 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4055C>T |
None |
M0138693 |
HOJOELEB_00031 |
46519 |
12 |
Oral |
0.52 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4150C>G |
None |
M0138694 |
HOJOELEB_00031 |
46538 |
12 |
Oral |
0.52 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4169T>C |
None |
M0138695 |
HOJOELEB_00031 |
46563 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4194G>T |
None |
M0138696 |
HOJOELEB_00031 |
46565 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4196T>A |
None |
M0138697 |
HOJOELEB_00031 |
46612 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4243A>C |
None |
M0138698 |
HOJOELEB_00031 |
46621 |
17 |
Oral |
0.74 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4252T>C |
None |
M0138699 |
HOJOELEB_00031 |
46739 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4370G>A |
None |
M0138700 |
HOJOELEB_00031 |
46766 |
17 |
Oral |
0.74 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4397A>G |
None |
M0138701 |
HOJOELEB_00036 |
48832 |
13 |
Oral |
0.57 |
protein_coding |
synonymous_variant |
LOW |
1032C>T |
Ile344Ile |
M0138702 |
HOJOELEB_00036 |
48835 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
1029C>T |
Thr343Thr |
M0138703 |
HOJOELEB_00036 |
49171 |
17 |
Oral |
0.74 |
protein_coding |
synonymous_variant |
LOW |
693T>C |
Asp231Asp |
M0138704 |
HOJOELEB_00036 |
49492 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
372A>T |
Thr124Thr |
M0138705 |
HOJOELEB_00037 |
50031 |
14 |
Oral |
0.61 |
protein_coding |
synonymous_variant |
LOW |
135A>G |
Ala45Ala |
M0138706 |
HOJOELEB_00038 |
50267 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
651C>T |
Phe217Phe |
M0138707 |
HOJOELEB_00038 |
50537 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
381T>A |
Leu127Leu |
M0138708 |
HOJOELEB_00036 |
50937 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1074T>C |
None |
M0138709 |
HOJOELEB_00036 |
51122 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1259T>A |
None |
M0138710 |
HOJOELEB_00036 |
51142 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1279C>T |
None |
M0138711 |
HOJOELEB_00036 |
51167 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1304A>G |
None |
M0138712 |
HOJOELEB_00036 |
51304 |
14 |
Oral |
0.61 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1441A>T |
None |
M0138713 |
HOJOELEB_00036 |
51322 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1459T>C |
None |
M0138714 |
HOJOELEB_00039 |
51378 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1026C>T |
Phe342Phe |
M0138715 |
HOJOELEB_00039 |
51381 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1023A>C |
Ala341Ala |
M0138716 |
HOJOELEB_00039 |
51513 |
10 |
Oral |
0.43 |
protein_coding |
synonymous_variant |
LOW |
891C>T |
Asp297Asp |
M0138717 |
HOJOELEB_00039 |
51699 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
705G>A |
Glu235Glu |
M0138718 |
HOJOELEB_00039 |
51717 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
687T>C |
His229His |
M0138719 |
HOJOELEB_00039 |
51900 |
11 |
Oral |
0.48 |
protein_coding |
synonymous_variant |
LOW |
504A>G |
Glu168Glu |
M0138720 |
HOJOELEB_00039 |
52095 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
309C>T |
His103His |
M0138721 |
HOJOELEB_00039 |
52164 |
17 |
Oral |
0.74 |
protein_coding |
synonymous_variant |
LOW |
240A>G |
Ala80Ala |
M0138722 |
HOJOELEB_00039 |
52218 |
10 |
Oral |
0.43 |
protein_coding |
synonymous_variant |
LOW |
186C>T |
Arg62Arg |
M0138723 |
HOJOELEB_00040 |
52514 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
813A>G |
Gln271Gln |
M0138724 |
HOJOELEB_00040 |
52637 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
690G>A |
Lys230Lys |
M0138725 |
HOJOELEB_00040 |
53123 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
204T>C |
Tyr68Tyr |
M0138726 |
HOJOELEB_00040 |
53210 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
117C>T |
Asp39Asp |
M0138727 |
HOJOELEB_00040 |
53219 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
108T>C |
His36His |
M0138728 |
HOJOELEB_00040 |
53225 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
102T>C |
Asp34Asp |
M0138729 |
HOJOELEB_00040 |
53228 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
99A>G |
Glu33Glu |
M0138730 |
HOJOELEB_00040 |
53288 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
39A>G |
Gln13Gln |
M0138731 |
HOJOELEB_00040 |
53309 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
18T>A |
Thr6Thr |
M0138732 |
HOJOELEB_00036 |
53350 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3487T>C |
None |
M0138733 |
HOJOELEB_00036 |
53370 |
17 |
Oral |
0.74 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3507A>T |
None |
M0138734 |
HOJOELEB_00036 |
53425 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3562C>A |
None |
M0138735 |
HOJOELEB_00036 |
53460 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3597C>A |
None |
M0138736 |
HOJOELEB_00036 |
53515 |
14 |
Oral |
0.61 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3652A>T |
None |
M0138737 |
HOJOELEB_00036 |
53516 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3653C>T |
None |
M0138738 |
HOJOELEB_00036 |
53561 |
16 |
Oral |
0.70 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3698G>A |
None |
M0138739 |
HOJOELEB_00036 |
53564 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3701G>A |
None |
M0138740 |
HOJOELEB_00036 |
53565 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3702A>T |
None |
M0138741 |
HOJOELEB_00036 |
53566 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3703G>C |
None |
M0138742 |
HOJOELEB_00036 |
53568 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3705C>T |
None |
M0138743 |
HOJOELEB_00036 |
53572 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3709G>A |
None |
M0138744 |
HOJOELEB_00036 |
53586 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3723A>G |
None |
M0138745 |
HOJOELEB_00036 |
53628 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3765G>A |
None |
M0138746 |
HOJOELEB_00036 |
53630 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3767A>T |
None |
M0138747 |
HOJOELEB_00041 |
54082 |
13 |
Oral |
0.57 |
protein_coding |
missense_variant |
MODERATE |
13G>A |
Val5Ile |
M0138748 |
HOJOELEB_00036 |
54101 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4238A>G |
None |
M0138749 |
HOJOELEB_00036 |
54162 |
17 |
Oral |
0.74 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4299T>A |
None |
M0138750 |
HOJOELEB_00036 |
54176 |
15 |
Oral |
0.65 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4313C>A |
None |
M0138751 |
HOJOELEB_00036 |
54196 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4333A>T |
None |
M0138752 |
HOJOELEB_00036 |
54240 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4377A>C |
None |
M0138753 |
HOJOELEB_00036 |
54241 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4378A>C |
None |
M0138754 |
HOJOELEB_00036 |
54339 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4476A>T |
None |
M0138755 |
HOJOELEB_00036 |
54406 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4543G>A |
None |
M0138756 |
HOJOELEB_00042 |
54575 |
9 |
Oral |
0.39 |
protein_coding |
missense_variant |
MODERATE |
146C>T |
Pro49Leu |
M0138757 |
HOJOELEB_00042 |
54588 |
13 |
Oral |
0.57 |
protein_coding |
synonymous_variant |
LOW |
159A>G |
Val53Val |
M0138758 |
HOJOELEB_00042 |
54605 |
9 |
Oral |
0.39 |
protein_coding |
missense_variant |
MODERATE |
176C>A |
Ala59Glu |
M0138759 |
HOJOELEB_00042 |
54606 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
177A>G |
Ala59Ala |
M0138760 |
HOJOELEB_00042 |
54610 |
8 |
Oral |
0.35 |
protein_coding |
missense_variant |
MODERATE |
181G>A |
Glu61Lys |
M0138761 |
HOJOELEB_00042 |
54615 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
186A>G |
Thr62Thr |
M0138762 |
HOJOELEB_00042 |
55311 |
18 |
Oral |
0.78 |
protein_coding |
synonymous_variant |
LOW |
882A>G |
Pro294Pro |
M0138763 |
HOJOELEB_00042 |
55476 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1047T>A |
Ala349Ala |
M0138764 |
HOJOELEB_00039 |
56119 |
14 |
Oral |
0.61 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3716T>C |
None |
M0138765 |
HOJOELEB_00044 |
57788 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
29C>T |
Thr10Met |
M0138766 |
HOJOELEB_00044 |
57894 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
135G>A |
Gln45Gln |
M0138767 |
HOJOELEB_00044 |
57999 |
10 |
Oral |
0.43 |
protein_coding |
synonymous_variant |
LOW |
240C>A |
Ile80Ile |
M0138768 |
HOJOELEB_00045 |
58289 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
27C>T |
Arg9Arg |
M0138769 |
HOJOELEB_00046 |
58915 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
807T>A |
Pro269Pro |
M0138770 |
HOJOELEB_00046 |
59464 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
258T>C |
Asn86Asn |
M0138771 |
HOJOELEB_00048 |
60271 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
391C>T |
Leu131Leu |
M0138772 |
HOJOELEB_00050 |
61751 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
177A>G |
Val59Val |
M0138773 |
HOJOELEB_00051 |
62231 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
415G>A |
Val139Met |
M0138774 |
HOJOELEB_00052 |
62680 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1203G>A |
Thr401Thr |
M0138775 |
HOJOELEB_00052 |
62767 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1116G>A |
Arg372Arg |
M0138776 |
HOJOELEB_00052 |
62986 |
13 |
Oral |
0.57 |
protein_coding |
synonymous_variant |
LOW |
897G>A |
Val299Val |
M0138777 |
HOJOELEB_00052 |
63124 |
13 |
Oral |
0.57 |
protein_coding |
synonymous_variant |
LOW |
759T>C |
Ser253Ser |
M0138778 |
HOJOELEB_00052 |
63395 |
7 |
Oral |
0.30 |
protein_coding |
missense_variant |
MODERATE |
488T>G |
Ile163Arg |
M0138779 |
HOJOELEB_00052 |
63539 |
7 |
Oral |
0.30 |
protein_coding |
missense_variant |
MODERATE |
344C>G |
Pro115Arg |
M0138780 |
HOJOELEB_00052 |
63760 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
123C>T |
Leu41Leu |
M0138781 |
HOJOELEB_00052 |
63763 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
120A>G |
Leu40Leu |
M0138782 |
HOJOELEB_00052 |
63810 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
73A>C |
Ile25Leu |
M0138783 |
HOJOELEB_00053 |
64090 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
31T>A |
Phe11Ile |
M0138784 |
HOJOELEB_00046 |
64192 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4471T>A |
None |
M0138785 |
HOJOELEB_00054 |
64358 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
357G>A |
Ala119Ala |
M0138786 |
HOJOELEB_00054 |
64370 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
345G>A |
Val115Val |
M0138787 |
HOJOELEB_00054 |
64391 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
324C>T |
Asp108Asp |
M0138788 |
HOJOELEB_00054 |
64685 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
30A>G |
Lys10Lys |
M0138789 |
HOJOELEB_00055 |
64903 |
14 |
Oral |
0.61 |
protein_coding |
missense_variant |
MODERATE |
661A>T |
Asn221Tyr |
M0138790 |
HOJOELEB_00055 |
64967 |
14 |
Oral |
0.61 |
protein_coding |
synonymous_variant |
LOW |
597G>A |
Gln199Gln |
M0138791 |
HOJOELEB_00055 |
65006 |
12 |
Oral |
0.52 |
protein_coding |
synonymous_variant |
LOW |
558C>T |
Tyr186Tyr |
M0138792 |
HOJOELEB_00056 |
65772 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
27C>T |
Arg9Arg |
M0138793 |
HOJOELEB_00056 |
66120 |
13 |
Oral |
0.57 |
protein_coding |
synonymous_variant |
LOW |
375G>A |
Arg125Arg |
M0138794 |
HOJOELEB_00056 |
66148 |
10 |
Oral |
0.43 |
protein_coding |
missense_variant |
MODERATE |
403G>A |
Glu135Lys |
M0138795 |
HOJOELEB_00056 |
66453 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
708C>G |
Ala236Ala |
M0138796 |
HOJOELEB_00050 |
66714 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4787T>C |
None |
M0138797 |
HOJOELEB_00057 |
66757 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
27C>T |
Ala9Ala |
M0138798 |
HOJOELEB_00057 |
66790 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
60G>A |
Pro20Pro |
M0138799 |
HOJOELEB_00057 |
67024 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
294C>T |
Asp98Asp |
M0138800 |
HOJOELEB_00057 |
67048 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
318G>A |
Gln106Gln |
M0138801 |
HOJOELEB_00057 |
67456 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
726C>T |
Phe242Phe |
M0138802 |
HOJOELEB_00051 |
67629 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4984C>A |
None |
M0138803 |
HOJOELEB_00052 |
67728 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3846C>T |
None |
M0138804 |
HOJOELEB_00052 |
67729 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3847A>G |
None |
M0138805 |
HOJOELEB_00052 |
67900 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4018G>A |
None |
M0138806 |
HOJOELEB_00058 |
68319 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
318C>T |
Ser106Ser |
M0138807 |
HOJOELEB_00058 |
68736 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
735C>T |
Gly245Gly |
M0138808 |
HOJOELEB_00058 |
68907 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
906T>C |
Ala302Ala |
M0138809 |
HOJOELEB_00058 |
68931 |
10 |
Oral |
0.43 |
protein_coding |
synonymous_variant |
LOW |
930G>A |
Thr310Thr |
M0138810 |
HOJOELEB_00059 |
69559 |
7 |
Oral |
0.30 |
protein_coding |
missense_variant |
MODERATE |
1033C>G |
Pro345Ala |
M0138811 |
HOJOELEB_00059 |
69569 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1023C>T |
Asp341Asp |
M0138812 |
HOJOELEB_00059 |
69614 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
978A>G |
Gly326Gly |
M0138813 |
HOJOELEB_00059 |
69635 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
957A>T |
Leu319Leu |
M0138814 |
HOJOELEB_00059 |
69743 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
849A>G |
Pro283Pro |
M0138815 |
HOJOELEB_00059 |
69932 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
660T>A |
Arg220Arg |
M0138816 |
HOJOELEB_00059 |
70133 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
459T>A |
Thr153Thr |
M0138817 |
HOJOELEB_00059 |
70195 |
8 |
Oral |
0.35 |
protein_coding |
missense_variant |
MODERATE |
397G>A |
Val133Ile |
M0138818 |
HOJOELEB_00060 |
70869 |
7 |
Oral |
0.30 |
protein_coding |
missense_variant |
MODERATE |
421G>A |
Ala141Thr |
M0138819 |
HOJOELEB_00059 |
71446 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-855A>G |
None |
M0138820 |
HOJOELEB_00059 |
72192 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1601A>C |
None |
M0138821 |
HOJOELEB_00062 |
72224 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
12A>G |
Glu4Glu |
M0138822 |
HOJOELEB_00062 |
72326 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
114T>A |
Ala38Ala |
M0138823 |
HOJOELEB_00062 |
72464 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
252A>G |
Leu84Leu |
M0138824 |
HOJOELEB_00062 |
72858 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
646T>C |
Cys216Arg |
M0138825 |
HOJOELEB_00062 |
73040 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
828A>G |
Ala276Ala |
M0138826 |
HOJOELEB_00062 |
73146 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
934A>G |
Arg312Gly |
M0138827 |
HOJOELEB_00062 |
73147 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
935G>C |
Arg312Thr |
M0138828 |
HOJOELEB_00063 |
73214 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
77A>G |
Gln26Arg |
M0138829 |
HOJOELEB_00063 |
73314 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
177C>T |
Phe59Phe |
M0138830 |
HOJOELEB_00059 |
73525 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2934C>T |
None |
M0138831 |
HOJOELEB_00059 |
73586 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2995C>T |
None |
M0138832 |
HOJOELEB_00059 |
73587 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2996A>G |
None |
M0138833 |
HOJOELEB_00059 |
73772 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3181G>A |
None |
M0138834 |
HOJOELEB_00059 |
73788 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3197A>G |
None |
M0138835 |
HOJOELEB_00059 |
74300 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3709G>A |
None |
M0138836 |
HOJOELEB_00059 |
74352 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3761C>T |
None |
M0138837 |
HOJOELEB_00065 |
74793 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
280C>T |
Leu94Leu |
M0138838 |
HOJOELEB_00059 |
75293 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4702A>G |
None |
M0138839 |
HOJOELEB_00069 |
77518 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
345A>G |
Glu115Glu |
M0138840 |
HOJOELEB_00069 |
77680 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
183G>A |
Leu61Leu |
M0138841 |
HOJOELEB_00066 |
78022 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2393C>T |
None |
M0138842 |
HOJOELEB_00066 |
78032 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2403T>C |
None |
M0138843 |
HOJOELEB_00066 |
78033 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2404T>G |
None |
M0138844 |
HOJOELEB_00072 |
80480 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
339T>C |
Arg113Arg |
M0138845 |
HOJOELEB_00072 |
80511 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
308G>A |
Arg103His |
M0138846 |
HOJOELEB_00072 |
80678 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
141G>A |
Val47Val |
M0138847 |
HOJOELEB_00067 |
80951 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4645T>G |
None |
M0138848 |
HOJOELEB_00073 |
81321 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
255A>T |
Gly85Gly |
M0138849 |
HOJOELEB_00073 |
81507 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
441G>A |
Ala147Ala |
M0138850 |
HOJOELEB_00073 |
81622 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
556C>A |
Gln186Lys |
M0138851 |
HOJOELEB_00069 |
82151 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4289C>T |
None |
M0138852 |
HOJOELEB_00076 |
86312 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
540G>T |
Pro180Pro |
M0138853 |
HOJOELEB_00076 |
86920 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-69G>T |
None |
M0138854 |
HOJOELEB_00076 |
86999 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-148C>A |
None |
M0138855 |
HOJOELEB_00076 |
87019 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-168C>A |
None |
M0138856 |
HOJOELEB_00077 |
88221 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1116T>C |
Asn372Asn |
M0138857 |
HOJOELEB_00077 |
89142 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
195T>G |
Ser65Ser |
M0138858 |
HOJOELEB_00078 |
89487 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
66T>C |
His22His |
M0138859 |
HOJOELEB_00078 |
89490 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
69C>T |
Gly23Gly |
M0138860 |
HOJOELEB_00078 |
89491 |
7 |
Oral |
0.30 |
protein_coding |
missense_variant |
MODERATE |
70T>A |
Leu24Met |
M0138861 |
HOJOELEB_00078 |
89499 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
78G>A |
Val26Val |
M0138862 |
HOJOELEB_00078 |
89502 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
81T>C |
Ala27Ala |
M0138863 |
HOJOELEB_00078 |
89862 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
441G>A |
Gly147Gly |
M0138864 |
HOJOELEB_00079 |
91095 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
819C>T |
Asn273Asn |
M0138865 |
HOJOELEB_00081 |
94658 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
309A>C |
Thr103Thr |
M0138866 |
HOJOELEB_00079 |
95959 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4046C>T |
None |
M0138867 |
HOJOELEB_00083 |
97334 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1083T>C |
Thr361Thr |
M0138868 |
HOJOELEB_00083 |
97488 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1237C>A |
Gln413Lys |
M0138869 |
HOJOELEB_00080 |
97570 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3301T>C |
None |
M0138870 |
HOJOELEB_00080 |
97652 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3383A>G |
None |
M0138871 |
HOJOELEB_00084 |
98975 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
372T>C |
Phe124Phe |
M0138872 |
HOJOELEB_00027 |
40129 |
6 |
Oral |
0.26 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3629G>A |
None |
M0138873 |
HOJOELEB_00027 |
40131 |
6 |
Oral |
0.26 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3631A>G |
None |
M0138874 |
HOJOELEB_00027 |
40139 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3639G>A |
None |
M0138875 |
HOJOELEB_00027 |
40141 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3641G>C |
None |
M0138876 |
HOJOELEB_00027 |
40162 |
5 |
Oral |
0.22 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3662A>G |
None |
M0138877 |
HOJOELEB_00027 |
40167 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3667T>C |
None |
M0138878 |
HOJOELEB_00035 |
40728 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4933A>T |
None |
M0138879 |
HOJOELEB_00035 |
40844 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4817C>A |
None |
M0138880 |
HOJOELEB_00031 |
41325 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1045A>C |
Thr349Pro |
M0138881 |
HOJOELEB_00031 |
41566 |
12 |
Oral |
0.52 |
protein_coding |
synonymous_variant |
LOW |
804G>T |
Pro268Pro |
M0138882 |
HOJOELEB_00031 |
41627 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
743A>G |
Asp248Gly |
M0138883 |
HOJOELEB_00031 |
41628 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
742G>A |
Asp248Asn |
M0138884 |
HOJOELEB_00031 |
41805 |
14 |
Oral |
0.61 |
protein_coding |
missense_variant |
MODERATE |
565A>G |
Lys189Glu |
M0138885 |
HOJOELEB_00031 |
42025 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
345T>C |
Ser115Ser |
M0138886 |
HOJOELEB_00032 |
42537 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
120T>C |
Asp40Asp |
M0138887 |
HOJOELEB_00031 |
42776 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-407A>G |
None |
M0138888 |
HOJOELEB_00033 |
43030 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1074A>G |
Gln358Gln |
M0138889 |
HOJOELEB_00033 |
43092 |
7 |
Oral |
0.30 |
protein_coding |
missense_variant |
MODERATE |
1012A>G |
Lys338Glu |
M0138890 |
HOJOELEB_00031 |
45231 |
13 |
Oral |
0.57 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2862T>A |
None |
M0138891 |
HOJOELEB_00031 |
45289 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2920A>G |
None |
M0138892 |
HOJOELEB_00031 |
45422 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3053T>A |
None |
M0138893 |
HOJOELEB_00031 |
45453 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3084A>G |
None |
M0138894 |
HOJOELEB_00031 |
45476 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3107A>G |
None |
M0138895 |
HOJOELEB_00031 |
45489 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3120C>A |
None |
M0138896 |
HOJOELEB_00031 |
45493 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3124G>A |
None |
M0138897 |
HOJOELEB_00035 |
45862 |
10 |
Oral |
0.43 |
protein_coding |
missense_variant |
MODERATE |
202C>T |
Pro68Ser |
M0138898 |
HOJOELEB_00031 |
46123 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3754G>A |
None |
M0138899 |
HOJOELEB_00031 |
46210 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3841A>G |
None |
M0138900 |
HOJOELEB_00031 |
46296 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3927C>A |
None |
M0138901 |
HOJOELEB_00031 |
46311 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3942C>T |
None |
M0138902 |
HOJOELEB_00031 |
46407 |
14 |
Oral |
0.61 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4038C>A |
None |
M0138903 |
HOJOELEB_00031 |
46467 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4098C>T |
None |
M0138904 |
HOJOELEB_00031 |
46478 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4109C>A |
None |
M0138905 |
HOJOELEB_00031 |
46480 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4111A>C |
None |
M0138906 |
HOJOELEB_00031 |
46544 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4175T>A |
None |
M0138907 |
HOJOELEB_00031 |
46564 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4195C>T |
None |
M0138908 |
HOJOELEB_00031 |
46807 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4438G>A |
None |
M0138909 |
HOJOELEB_00036 |
48004 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1860C>T |
Asn620Asn |
M0138910 |
HOJOELEB_00036 |
48328 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1536C>G |
Pro512Pro |
M0138911 |
HOJOELEB_00036 |
48508 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1356C>T |
Asn452Asn |
M0138912 |
HOJOELEB_00036 |
48552 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1312T>C |
Leu438Leu |
M0138913 |
HOJOELEB_00036 |
48673 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1191T>C |
Asn397Asn |
M0138914 |
HOJOELEB_00036 |
48737 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1127A>T |
Gln376Leu |
M0138915 |
HOJOELEB_00038 |
50341 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
577A>C |
Ile193Leu |
M0138916 |
HOJOELEB_00038 |
50396 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
522T>A |
Val174Val |
M0138917 |
HOJOELEB_00038 |
50465 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
453A>G |
Glu151Glu |
M0138918 |
HOJOELEB_00038 |
50477 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
441T>C |
Phe147Phe |
M0138919 |
HOJOELEB_00038 |
50640 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
278C>T |
Thr93Ile |
M0138920 |
HOJOELEB_00036 |
51233 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1370T>C |
None |
M0138921 |
HOJOELEB_00036 |
51242 |
10 |
Oral |
0.43 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1379C>T |
None |
M0138922 |
HOJOELEB_00039 |
51426 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
978A>G |
Val326Val |
M0138923 |
HOJOELEB_00039 |
51648 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
756C>T |
Gly252Gly |
M0138924 |
HOJOELEB_00039 |
51924 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
480T>G |
Ala160Ala |
M0138925 |
HOJOELEB_00039 |
52026 |
11 |
Oral |
0.48 |
protein_coding |
synonymous_variant |
LOW |
378A>T |
Ile126Ile |
M0138926 |
HOJOELEB_00039 |
52191 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
213T>A |
Thr71Thr |
M0138927 |
HOJOELEB_00040 |
52617 |
9 |
Oral |
0.39 |
protein_coding |
missense_variant |
MODERATE |
710A>G |
Glu237Gly |
M0138928 |
HOJOELEB_00036 |
53588 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3725A>G |
None |
M0138929 |
HOJOELEB_00041 |
53692 |
10 |
Oral |
0.43 |
protein_coding |
missense_variant |
MODERATE |
403G>A |
Ala135Thr |
M0138930 |
HOJOELEB_00041 |
53939 |
13 |
Oral |
0.57 |
protein_coding |
synonymous_variant |
LOW |
156A>G |
Pro52Pro |
M0138931 |
HOJOELEB_00041 |
54035 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
60C>T |
Gly20Gly |
M0138932 |
HOJOELEB_00036 |
54206 |
11 |
Oral |
0.48 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4343G>A |
None |
M0138933 |
HOJOELEB_00042 |
54720 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
291T>A |
Asn97Lys |
M0138934 |
HOJOELEB_00042 |
54881 |
11 |
Oral |
0.48 |
protein_coding |
missense_variant |
MODERATE |
452A>C |
Glu151Ala |
M0138935 |
HOJOELEB_00042 |
54885 |
7 |
Oral |
0.30 |
protein_coding |
missense_variant |
MODERATE |
456C>G |
Asn152Lys |
M0138936 |
HOJOELEB_00042 |
54954 |
12 |
Oral |
0.52 |
protein_coding |
synonymous_variant |
LOW |
525G>A |
Thr175Thr |
M0138937 |
HOJOELEB_00042 |
54969 |
11 |
Oral |
0.48 |
protein_coding |
synonymous_variant |
LOW |
540T>C |
Cys180Cys |
M0138938 |
HOJOELEB_00042 |
55104 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
675T>A |
Ala225Ala |
M0138939 |
HOJOELEB_00042 |
55422 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
993G>A |
Val331Val |
M0138940 |
HOJOELEB_00042 |
55584 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1155C>T |
Thr385Thr |
M0138941 |
HOJOELEB_00042 |
55696 |
8 |
Oral |
0.35 |
protein_coding |
missense_variant |
MODERATE |
1267C>A |
Leu423Met |
M0138942 |
HOJOELEB_00038 |
55756 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4839C>A |
None |
M0138943 |
HOJOELEB_00038 |
55782 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4865A>C |
None |
M0138944 |
HOJOELEB_00038 |
55783 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4866G>A |
None |
M0138945 |
HOJOELEB_00038 |
55817 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4900T>C |
None |
M0138946 |
HOJOELEB_00038 |
55823 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4906C>A |
None |
M0138947 |
HOJOELEB_00038 |
55824 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4907T>C |
None |
M0138948 |
HOJOELEB_00038 |
55830 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4913G>A |
None |
M0138949 |
HOJOELEB_00043 |
56804 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
246C>A |
Ile82Ile |
M0138950 |
HOJOELEB_00043 |
56813 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
255C>T |
Asn85Asn |
M0138951 |
HOJOELEB_00043 |
57488 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
930A>G |
Arg310Arg |
M0138952 |
HOJOELEB_00047 |
60049 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
126C>T |
Leu42Leu |
M0138953 |
HOJOELEB_00049 |
60733 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
429G>A |
Arg143Arg |
M0138954 |
HOJOELEB_00049 |
61078 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
84C>T |
Asp28Asp |
M0138955 |
HOJOELEB_00051 |
62641 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
5A>G |
Asn2Ser |
M0138956 |
HOJOELEB_00052 |
63556 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
327C>T |
Tyr109Tyr |
M0138957 |
HOJOELEB_00055 |
64826 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
738C>T |
Leu246Leu |
M0138958 |
HOJOELEB_00055 |
65143 |
9 |
Oral |
0.39 |
protein_coding |
missense_variant |
MODERATE |
421G>A |
Val141Ile |
M0138959 |
HOJOELEB_00055 |
65201 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
363G>A |
Val121Val |
M0138960 |
HOJOELEB_00055 |
65267 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
297A>G |
Leu99Leu |
M0138961 |
HOJOELEB_00055 |
65307 |
12 |
Oral |
0.52 |
protein_coding |
missense_variant |
MODERATE |
257C>T |
Ala86Val |
M0138962 |
HOJOELEB_00057 |
67318 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
588A>G |
Pro196Pro |
M0138963 |
HOJOELEB_00052 |
67704 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3822A>G |
None |
M0138964 |
HOJOELEB_00059 |
69776 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
816C>T |
Gly272Gly |
M0138965 |
HOJOELEB_00059 |
70523 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
69G>A |
Leu23Leu |
M0138966 |
HOJOELEB_00059 |
70727 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-136A>G |
None |
M0138967 |
HOJOELEB_00060 |
70915 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
375G>A |
Glu125Glu |
M0138968 |
HOJOELEB_00019 |
28345 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4974C>A |
None |
M0138969 |
HOJOELEB_00024 |
30246 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1173T>C |
Leu391Leu |
M0138970 |
HOJOELEB_00025 |
31414 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1623T>C |
Thr541Thr |
M0138971 |
HOJOELEB_00025 |
31423 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1614C>T |
Gly538Gly |
M0138972 |
HOJOELEB_00025 |
31528 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1509T>C |
Arg503Arg |
M0138973 |
HOJOELEB_00025 |
31623 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
1414A>T |
Ser472Cys |
M0138974 |
HOJOELEB_00025 |
31647 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1390C>T |
Leu464Leu |
M0138975 |
HOJOELEB_00025 |
32417 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
620C>T |
Ala207Val |
M0138976 |
HOJOELEB_00025 |
32428 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
609T>A |
Thr203Thr |
M0138977 |
HOJOELEB_00025 |
33254 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-218A>T |
None |
M0138978 |
HOJOELEB_00025 |
33572 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-536C>T |
None |
M0138979 |
HOJOELEB_00025 |
33828 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-792C>T |
None |
M0138980 |
HOJOELEB_00027 |
34082 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
114T>G |
Asp38Glu |
M0138981 |
HOJOELEB_00027 |
35012 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1044A>G |
Glu348Glu |
M0138982 |
HOJOELEB_00027 |
35129 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1161A>G |
Leu387Leu |
M0138983 |
HOJOELEB_00027 |
35699 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1731A>C |
Thr577Thr |
M0138984 |
HOJOELEB_00027 |
35705 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1737T>C |
Asp579Asp |
M0138985 |
HOJOELEB_00027 |
36023 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
2055T>C |
Asp685Asp |
M0138986 |
HOJOELEB_00025 |
36765 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3729T>G |
None |
M0138987 |
HOJOELEB_00025 |
36766 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3730G>A |
None |
M0138988 |
HOJOELEB_00028 |
37519 |
7 |
Oral |
0.30 |
protein_coding |
missense_variant |
MODERATE |
475A>G |
Asn159Asp |
M0138989 |
HOJOELEB_00028 |
37701 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
657C>A |
Pro219Pro |
M0138990 |
HOJOELEB_00028 |
37980 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
936A>G |
Leu312Leu |
M0138991 |
HOJOELEB_00028 |
38009 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
965A>G |
Lys322Arg |
M0138992 |
HOJOELEB_00026 |
38172 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4925G>A |
None |
M0138993 |
HOJOELEB_00026 |
38175 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4928T>C |
None |
M0138994 |
HOJOELEB_00026 |
38179 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4932C>T |
None |
M0138995 |
HOJOELEB_00026 |
38202 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4955A>G |
None |
M0138996 |
HOJOELEB_00029 |
38751 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
456G>A |
Glu152Glu |
M0138997 |
HOJOELEB_00029 |
38848 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
553G>A |
Asp185Asn |
M0138998 |
HOJOELEB_00029 |
38942 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
647G>T |
Trp216Leu |
M0138999 |
HOJOELEB_00030 |
39287 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
106A>T |
Ile36Phe |
M0139000 |
HOJOELEB_00030 |
39317 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
136A>G |
Thr46Ala |
M0139001 |
HOJOELEB_00030 |
39770 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
589C>T |
His197Tyr |
M0139002 |
HOJOELEB_00030 |
39862 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
681G>A |
Gln227Gln |
M0139003 |
HOJOELEB_00027 |
40298 |
5 |
Oral |
0.22 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3798A>G |
None |
M0139004 |
HOJOELEB_00035 |
40794 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4867A>G |
None |
M0139005 |
HOJOELEB_00035 |
40803 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4858A>G |
None |
M0139006 |
HOJOELEB_00031 |
42334 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
36T>C |
Thr12Thr |
M0139007 |
HOJOELEB_00033 |
43318 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
786T>G |
Thr262Thr |
M0139008 |
HOJOELEB_00031 |
44166 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1797A>G |
None |
M0139009 |
HOJOELEB_00031 |
45543 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3174T>A |
None |
M0139010 |
HOJOELEB_00031 |
45624 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3255C>T |
None |
M0139011 |
HOJOELEB_00031 |
46469 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4100C>T |
None |
M0139012 |
HOJOELEB_00031 |
46474 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4105A>T |
None |
M0139013 |
HOJOELEB_00031 |
46489 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4120T>C |
None |
M0139014 |
HOJOELEB_00036 |
47511 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2353T>C |
Leu785Leu |
M0139015 |
HOJOELEB_00036 |
48091 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1773C>T |
Ala591Ala |
M0139016 |
HOJOELEB_00036 |
49822 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
42T>C |
Phe14Phe |
M0139017 |
HOJOELEB_00036 |
54230 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4367T>A |
None |
M0139018 |
HOJOELEB_00036 |
54332 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4469A>G |
None |
M0139019 |
HOJOELEB_00042 |
54448 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
19A>G |
Ser7Gly |
M0139020 |
HOJOELEB_00042 |
54930 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
501A>G |
Glu167Glu |
M0139021 |
HOJOELEB_00042 |
55000 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
571C>T |
Leu191Leu |
M0139022 |
HOJOELEB_00042 |
55089 |
8 |
Oral |
0.35 |
protein_coding |
missense_variant |
MODERATE |
660G>A |
Met220Ile |
M0139023 |
HOJOELEB_00042 |
55107 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
678T>C |
Ala226Ala |
M0139024 |
HOJOELEB_00042 |
55110 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
681C>T |
Phe227Phe |
M0139025 |
HOJOELEB_00042 |
55113 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
684G>A |
Lys228Lys |
M0139026 |
HOJOELEB_00042 |
55116 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
687C>T |
Phe229Phe |
M0139027 |
HOJOELEB_00042 |
55117 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
688T>C |
Leu230Leu |
M0139028 |
HOJOELEB_00042 |
55119 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
690G>A |
Leu230Leu |
M0139029 |
HOJOELEB_00042 |
55122 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
693G>A |
Thr231Thr |
M0139030 |
HOJOELEB_00042 |
55123 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
694C>G |
Gln232Glu |
M0139031 |
HOJOELEB_00042 |
55125 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
696G>A |
Gln232Gln |
M0139032 |
HOJOELEB_00042 |
55435 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1006G>A |
Asp336Asn |
M0139033 |
HOJOELEB_00042 |
55585 |
9 |
Oral |
0.39 |
protein_coding |
missense_variant |
MODERATE |
1156G>T |
Ala386Ser |
M0139034 |
HOJOELEB_00042 |
55590 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
1161T>C |
Ser387Ser |
M0139035 |
HOJOELEB_00042 |
55665 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
1236T>A |
Val412Val |
M0139036 |
HOJOELEB_00039 |
55997 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3594C>T |
None |
M0139037 |
HOJOELEB_00039 |
56160 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3757C>T |
None |
M0139038 |
HOJOELEB_00039 |
56162 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3759C>T |
None |
M0139039 |
HOJOELEB_00039 |
56442 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4039C>G |
None |
M0139040 |
HOJOELEB_00039 |
56554 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4151T>C |
None |
M0139041 |
HOJOELEB_00043 |
57422 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
864T>C |
Phe288Phe |
M0139042 |
HOJOELEB_00046 |
59059 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
663G>A |
Lys221Lys |
M0139043 |
HOJOELEB_00048 |
60587 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
75A>G |
Gln25Gln |
M0139044 |
HOJOELEB_00048 |
60608 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
54G>C |
Thr18Thr |
M0139045 |
HOJOELEB_00048 |
60643 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
19A>T |
Asn7Tyr |
M0139046 |
HOJOELEB_00049 |
60802 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
360G>A |
Leu120Leu |
M0139047 |
HOJOELEB_00046 |
61289 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1568A>C |
None |
M0139048 |
HOJOELEB_00051 |
62456 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
190A>G |
Thr64Ala |
M0139049 |
HOJOELEB_00052 |
62966 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
917G>A |
Arg306His |
M0139050 |
HOJOELEB_00052 |
62983 |
10 |
Oral |
0.43 |
protein_coding |
synonymous_variant |
LOW |
900G>A |
Pro300Pro |
M0139051 |
HOJOELEB_00049 |
65694 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4533A>G |
None |
M0139052 |
HOJOELEB_00056 |
66291 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
546A>G |
Gly182Gly |
M0139053 |
HOJOELEB_00056 |
66348 |
10 |
Oral |
0.43 |
protein_coding |
synonymous_variant |
LOW |
603A>T |
Gly201Gly |
M0139054 |
HOJOELEB_00050 |
66684 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4757G>T |
None |
M0139055 |
HOJOELEB_00057 |
67366 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
636A>G |
Leu212Leu |
M0139056 |
HOJOELEB_00052 |
67689 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3807A>T |
None |
M0139057 |
HOJOELEB_00058 |
68247 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
246C>T |
Phe82Phe |
M0139058 |
HOJOELEB_00058 |
68715 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
714C>T |
Gly238Gly |
M0139059 |
HOJOELEB_00054 |
69385 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4671C>A |
None |
M0139060 |
HOJOELEB_00059 |
69695 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
897T>A |
Val299Val |
M0139061 |
HOJOELEB_00059 |
70671 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-80G>A |
None |
M0139062 |
HOJOELEB_00059 |
70720 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-129G>A |
None |
M0139063 |
HOJOELEB_00060 |
70885 |
7 |
Oral |
0.30 |
protein_coding |
synonymous_variant |
LOW |
405G>A |
Gln135Gln |
M0139064 |
HOJOELEB_00060 |
71224 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
66T>C |
Cys22Cys |
M0139065 |
HOJOELEB_00060 |
71232 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
58T>C |
Ser20Pro |
M0139066 |
HOJOELEB_00059 |
71525 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-934G>A |
None |
M0139067 |
HOJOELEB_00062 |
72902 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
690C>A |
Asn230Lys |
M0139068 |
HOJOELEB_00063 |
73353 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
216C>A |
Thr72Thr |
M0139069 |
HOJOELEB_00063 |
73357 |
4 |
Oral |
0.17 |
protein_coding |
stop_gained |
HIGH |
220C>T |
Gln74* |
M0139070 |
HOJOELEB_00063 |
73364 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
227G>A |
Gly76Asp |
M0139071 |
HOJOELEB_00063 |
73439 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
302G>A |
Ser101Asn |
M0139072 |
HOJOELEB_00063 |
73476 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
339A>C |
Gly113Gly |
M0139073 |
HOJOELEB_00063 |
73478 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
341C>G |
Thr114Ser |
M0139074 |
HOJOELEB_00059 |
73685 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3094T>G |
None |
M0139075 |
HOJOELEB_00059 |
74454 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3863T>C |
None |
M0139076 |
HOJOELEB_00066 |
78106 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2477C>T |
None |
M0139077 |
HOJOELEB_00070 |
78154 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
743A>G |
Glu248Gly |
M0139078 |
HOJOELEB_00069 |
82326 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4464G>A |
None |
M0139079 |
HOJOELEB_00075 |
83430 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
157A>G |
Thr53Ala |
M0139080 |
HOJOELEB_00075 |
84227 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
954T>A |
Val318Val |
M0139081 |
HOJOELEB_00075 |
84478 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1205A>G |
His402Arg |
M0139082 |
HOJOELEB_00075 |
84708 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1435G>A |
Ala479Thr |
M0139083 |
HOJOELEB_00075 |
84807 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
1534C>T |
His512Tyr |
M0139084 |
HOJOELEB_00075 |
84944 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1671T>C |
Ser557Ser |
M0139085 |
HOJOELEB_00075 |
84974 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1701C>T |
Asn567Asn |
M0139086 |
HOJOELEB_00075 |
84981 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1708T>C |
Leu570Leu |
M0139087 |
HOJOELEB_00075 |
85040 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1767T>C |
Asn589Asn |
M0139088 |
HOJOELEB_00075 |
85051 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
1778T>C |
Ile593Thr |
M0139089 |
HOJOELEB_00075 |
85070 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1797A>T |
Leu599Phe |
M0139090 |
HOJOELEB_00075 |
85223 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
1950T>C |
Ala650Ala |
M0139091 |
HOJOELEB_00075 |
85292 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
2019T>C |
Phe673Phe |
M0139092 |
HOJOELEB_00075 |
85301 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
2028T>C |
Asn676Asn |
M0139093 |
HOJOELEB_00075 |
85308 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
2035A>T |
Ile679Phe |
M0139094 |
HOJOELEB_00075 |
85309 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
2036T>A |
Ile679Asn |
M0139095 |
HOJOELEB_00075 |
85314 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
2041G>A |
Asp681Asn |
M0139096 |
HOJOELEB_00072 |
85399 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4581T>C |
None |
M0139097 |
HOJOELEB_00072 |
85427 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4609T>G |
None |
M0139098 |
HOJOELEB_00072 |
85430 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4612T>C |
None |
M0139099 |
HOJOELEB_00072 |
85490 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4672C>T |
None |
M0139100 |
HOJOELEB_00072 |
85492 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4674T>A |
None |
M0139101 |
HOJOELEB_00072 |
85625 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4807G>A |
None |
M0139102 |
HOJOELEB_00072 |
85634 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4816G>A |
None |
M0139103 |
HOJOELEB_00077 |
87117 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2220T>C |
Asn740Asn |
M0139104 |
HOJOELEB_00077 |
88358 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
979C>T |
His327Tyr |
M0139105 |
HOJOELEB_00077 |
88864 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
473G>C |
Ser158Thr |
M0139106 |
HOJOELEB_00077 |
88893 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
444C>T |
Pro148Pro |
M0139107 |
HOJOELEB_00078 |
89480 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
59C>T |
Ala20Val |
M0139108 |
HOJOELEB_00076 |
90893 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4042C>T |
None |
M0139109 |
HOJOELEB_00079 |
91015 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
899A>G |
Asn300Ser |
M0139110 |
HOJOELEB_00079 |
91026 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
888A>C |
Glu296Asp |
M0139111 |
HOJOELEB_00079 |
91278 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
636A>C |
Gly212Gly |
M0139112 |
HOJOELEB_00080 |
92736 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1534A>G |
Ile512Val |
M0139113 |
HOJOELEB_00080 |
92788 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1482C>T |
Leu494Leu |
M0139114 |
HOJOELEB_00080 |
93088 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1182C>T |
Arg394Arg |
M0139115 |
HOJOELEB_00080 |
93196 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1074G>A |
Gly358Gly |
M0139116 |
HOJOELEB_00080 |
93586 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
684T>G |
Arg228Arg |
M0139117 |
HOJOELEB_00083 |
96659 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
408G>T |
Gly136Gly |
M0139118 |
HOJOELEB_00080 |
97708 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3439C>T |
None |
M0139119 |
HOJOELEB_00080 |
97729 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3460C>A |
None |
M0139120 |
HOJOELEB_00080 |
97861 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3592A>C |
None |
M0139121 |
HOJOELEB_00080 |
98106 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3837G>T |
None |
M0139122 |
HOJOELEB_00025 |
33607 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-571C>T |
None |
M0139123 |
HOJOELEB_00027 |
34604 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
636C>T |
Gly212Gly |
M0139124 |
HOJOELEB_00027 |
34691 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
723T>C |
Ser241Ser |
M0139125 |
HOJOELEB_00027 |
34769 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
801G>A |
Lys267Lys |
M0139126 |
HOJOELEB_00027 |
34829 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
861T>C |
Thr287Thr |
M0139127 |
HOJOELEB_00028 |
37254 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
210A>G |
Val70Val |
M0139128 |
HOJOELEB_00028 |
37971 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
927G>A |
Gln309Gln |
M0139129 |
HOJOELEB_00029 |
38288 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-8A>G |
None |
M0139130 |
HOJOELEB_00029 |
38291 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-5C>A |
None |
M0139131 |
HOJOELEB_00029 |
38981 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
686A>G |
Lys229Arg |
M0139132 |
HOJOELEB_00029 |
39003 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
708T>C |
Asp236Asp |
M0139133 |
HOJOELEB_00030 |
39324 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
143C>T |
Ala48Val |
M0139134 |
HOJOELEB_00030 |
39361 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
180A>C |
Gly60Gly |
M0139135 |
HOJOELEB_00027 |
40074 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3574T>C |
None |
M0139136 |
HOJOELEB_00027 |
40183 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3683G>A |
None |
M0139137 |
HOJOELEB_00027 |
40205 |
7 |
Oral |
0.30 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3705T>A |
None |
M0139138 |
HOJOELEB_00035 |
40698 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4963T>C |
None |
M0139139 |
HOJOELEB_00031 |
41664 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
706G>C |
Ala236Pro |
M0139140 |
HOJOELEB_00031 |
41665 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
705G>A |
Thr235Thr |
M0139141 |
HOJOELEB_00031 |
45338 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2969G>A |
None |
M0139142 |
HOJOELEB_00031 |
45377 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3008A>T |
None |
M0139143 |
HOJOELEB_00035 |
45708 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
48A>T |
Ala16Ala |
M0139144 |
HOJOELEB_00036 |
47053 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2811T>C |
Leu937Leu |
M0139145 |
HOJOELEB_00036 |
47296 |
10 |
Oral |
0.43 |
protein_coding |
synonymous_variant |
LOW |
2568A>T |
Thr856Thr |
M0139146 |
HOJOELEB_00036 |
47572 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
2292A>T |
Pro764Pro |
M0139147 |
HOJOELEB_00036 |
49140 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
724C>T |
Leu242Leu |
M0139148 |
HOJOELEB_00038 |
50240 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
678A>C |
Gly226Gly |
M0139149 |
HOJOELEB_00036 |
51220 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1357C>T |
None |
M0139150 |
HOJOELEB_00039 |
51429 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
975G>A |
Val325Val |
M0139151 |
HOJOELEB_00039 |
51526 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
878G>A |
Cys293Tyr |
M0139152 |
HOJOELEB_00039 |
51771 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
633G>T |
Ser211Ser |
M0139153 |
HOJOELEB_00039 |
51965 |
10 |
Oral |
0.43 |
protein_coding |
missense_variant |
MODERATE |
439A>G |
Thr147Ala |
M0139154 |
HOJOELEB_00040 |
52415 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
912G>C |
Lys304Asn |
M0139155 |
HOJOELEB_00042 |
54795 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
366T>C |
Pro122Pro |
M0139156 |
HOJOELEB_00042 |
54855 |
10 |
Oral |
0.43 |
protein_coding |
synonymous_variant |
LOW |
426A>G |
Ala142Ala |
M0139157 |
HOJOELEB_00042 |
55381 |
6 |
Oral |
0.26 |
protein_coding |
stop_gained |
HIGH |
952A>T |
Lys318* |
M0139158 |
HOJOELEB_00042 |
55383 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
954A>C |
Lys318Asn |
M0139159 |
HOJOELEB_00042 |
55409 |
9 |
Oral |
0.39 |
protein_coding |
missense_variant |
MODERATE |
980T>C |
Leu327Pro |
M0139160 |
HOJOELEB_00042 |
55570 |
8 |
Oral |
0.35 |
protein_coding |
missense_variant |
MODERATE |
1141C>A |
Arg381Ser |
M0139161 |
HOJOELEB_00042 |
55571 |
8 |
Oral |
0.35 |
protein_coding |
missense_variant |
MODERATE |
1142G>A |
Arg381His |
M0139162 |
HOJOELEB_00042 |
55572 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
1143C>G |
Arg381Arg |
M0139163 |
HOJOELEB_00042 |
55575 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
1146C>T |
Ser382Ser |
M0139164 |
HOJOELEB_00038 |
55879 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4962G>A |
None |
M0139165 |
HOJOELEB_00039 |
56040 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3637A>T |
None |
M0139166 |
HOJOELEB_00039 |
56046 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3643A>G |
None |
M0139167 |
HOJOELEB_00048 |
60537 |
10 |
Oral |
0.43 |
protein_coding |
missense_variant |
MODERATE |
125G>A |
Arg42Lys |
M0139168 |
HOJOELEB_00050 |
61664 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
264T>C |
His88His |
M0139169 |
HOJOELEB_00050 |
61742 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
186G>A |
Leu62Leu |
M0139170 |
HOJOELEB_00046 |
62026 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-2305T>C |
None |
M0139171 |
HOJOELEB_00052 |
63572 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
311C>A |
Ala104Glu |
M0139172 |
HOJOELEB_00052 |
63673 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
210C>T |
Asp70Asp |
M0139173 |
HOJOELEB_00053 |
64093 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
28A>T |
Asn10Tyr |
M0139174 |
HOJOELEB_00055 |
64892 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
672G>A |
Pro224Pro |
M0139175 |
HOJOELEB_00056 |
66141 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
396G>A |
Gln132Gln |
M0139176 |
HOJOELEB_00056 |
66264 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
519C>T |
Pro173Pro |
M0139177 |
HOJOELEB_00056 |
66354 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
609A>G |
Val203Val |
M0139178 |
HOJOELEB_00056 |
66357 |
6 |
Oral |
0.26 |
protein_coding |
synonymous_variant |
LOW |
612C>T |
Val204Val |
M0139179 |
HOJOELEB_00060 |
70924 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
366C>T |
Phe122Phe |
M0139180 |
HOJOELEB_00059 |
71356 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-765A>G |
None |
M0139181 |
HOJOELEB_00059 |
71736 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1145T>C |
None |
M0139182 |
HOJOELEB_00059 |
71815 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1224A>G |
None |
M0139183 |
HOJOELEB_00059 |
71960 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1369T>C |
None |
M0139184 |
HOJOELEB_00059 |
71988 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1397A>T |
None |
M0139185 |
HOJOELEB_00059 |
72020 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1429A>G |
None |
M0139186 |
HOJOELEB_00059 |
72041 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1450T>C |
None |
M0139187 |
HOJOELEB_00059 |
72050 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1459C>A |
None |
M0139188 |
HOJOELEB_00059 |
72056 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1465A>T |
None |
M0139189 |
HOJOELEB_00059 |
72082 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1491G>C |
None |
M0139190 |
HOJOELEB_00059 |
72091 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1500T>C |
None |
M0139191 |
HOJOELEB_00059 |
72093 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1502T>C |
None |
M0139192 |
HOJOELEB_00059 |
72107 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1516T>A |
None |
M0139193 |
HOJOELEB_00059 |
72142 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1551C>A |
None |
M0139194 |
HOJOELEB_00059 |
73892 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3301G>A |
None |
M0139195 |
HOJOELEB_00011 |
15649 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
688T>C |
Ser230Pro |
M0139196 |
HOJOELEB_00012 |
15880 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
49C>T |
His17Tyr |
M0139197 |
HOJOELEB_00012 |
16026 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
195A>G |
Glu65Glu |
M0139198 |
HOJOELEB_00014 |
16726 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
432A>T |
Glu144Asp |
M0139199 |
HOJOELEB_00014 |
16876 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
282A>G |
Val94Val |
M0139200 |
HOJOELEB_00014 |
16990 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
168A>T |
Thr56Thr |
M0139201 |
HOJOELEB_00014 |
17090 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
68A>T |
Asn23Ile |
M0139202 |
HOJOELEB_00014 |
17309 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-152C>T |
None |
M0139203 |
HOJOELEB_00014 |
17320 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-163T>C |
None |
M0139204 |
HOJOELEB_00014 |
17343 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-186C>T |
None |
M0139205 |
HOJOELEB_00016 |
19664 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
777T>C |
Leu259Leu |
M0139206 |
HOJOELEB_00016 |
19913 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
528T>C |
Gly176Gly |
M0139207 |
HOJOELEB_00017 |
20898 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1614T>C |
Ser538Ser |
M0139208 |
HOJOELEB_00017 |
21171 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1341T>C |
Phe447Phe |
M0139209 |
HOJOELEB_00017 |
21384 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1128C>T |
Gly376Gly |
M0139210 |
HOJOELEB_00017 |
21453 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1059C>T |
Ser353Ser |
M0139211 |
HOJOELEB_00017 |
21555 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
957T>C |
Ile319Ile |
M0139212 |
HOJOELEB_00017 |
21681 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
831T>C |
Ile277Ile |
M0139213 |
HOJOELEB_00017 |
22008 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
504T>C |
Asn168Asn |
M0139214 |
HOJOELEB_00017 |
22338 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
174A>C |
Gly58Gly |
M0139215 |
HOJOELEB_00017 |
22416 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
96T>A |
Gly32Gly |
M0139216 |
HOJOELEB_00018 |
22608 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
222A>G |
Glu74Glu |
M0139217 |
HOJOELEB_00018 |
22779 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
51A>T |
Ile17Ile |
M0139218 |
HOJOELEB_00019 |
23027 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
345A>G |
Lys115Lys |
M0139219 |
HOJOELEB_00020 |
23504 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
417T>C |
Asp139Asp |
M0139220 |
HOJOELEB_00020 |
23699 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
222T>C |
Cys74Cys |
M0139221 |
HOJOELEB_00020 |
23828 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
93A>G |
Thr31Thr |
M0139222 |
HOJOELEB_00022 |
25299 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1377C>T |
Phe459Phe |
M0139223 |
HOJOELEB_00022 |
25320 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1356A>G |
Val452Val |
M0139224 |
HOJOELEB_00022 |
25521 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1155C>T |
Arg385Arg |
M0139225 |
HOJOELEB_00022 |
25530 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1146T>C |
Ser382Ser |
M0139226 |
HOJOELEB_00022 |
25539 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1137T>A |
Gly379Gly |
M0139227 |
HOJOELEB_00022 |
25542 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1134C>A |
Ala378Ala |
M0139228 |
HOJOELEB_00022 |
25920 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
756C>T |
Arg252Arg |
M0139229 |
HOJOELEB_00023 |
26879 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
678G>T |
Arg226Arg |
M0139230 |
HOJOELEB_00020 |
28802 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4882A>G |
None |
M0139231 |
HOJOELEB_00020 |
28803 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4883T>C |
None |
M0139232 |
HOJOELEB_00024 |
29612 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
539G>A |
Arg180His |
M0139233 |
HOJOELEB_00024 |
30159 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1086A>G |
Arg362Arg |
M0139234 |
HOJOELEB_00025 |
32523 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
514A>G |
Ile172Val |
M0139235 |
HOJOELEB_00025 |
32553 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
484A>G |
Ile162Val |
M0139236 |
HOJOELEB_00025 |
32656 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
381C>T |
Leu127Leu |
M0139237 |
HOJOELEB_00025 |
32763 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
274G>A |
Asp92Asn |
M0139238 |
HOJOELEB_00025 |
32974 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
63C>T |
Cys21Cys |
M0139239 |
HOJOELEB_00025 |
33017 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
20G>A |
Cys7Tyr |
M0139240 |
HOJOELEB_00028 |
37305 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
261T>C |
Arg87Arg |
M0139241 |
HOJOELEB_00027 |
40085 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3585C>A |
None |
M0139242 |
HOJOELEB_00027 |
40087 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3587A>G |
None |
M0139243 |
HOJOELEB_00027 |
40296 |
5 |
Oral |
0.22 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3796C>T |
None |
M0139244 |
HOJOELEB_00027 |
40659 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4159A>G |
None |
M0139245 |
HOJOELEB_00031 |
41837 |
6 |
Oral |
0.26 |
protein_coding |
missense_variant |
MODERATE |
533T>C |
Val178Ala |
M0139246 |
HOJOELEB_00031 |
41839 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
531C>T |
Ser177Ser |
M0139247 |
HOJOELEB_00031 |
41973 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
397A>G |
Thr133Ala |
M0139248 |
HOJOELEB_00034 |
44806 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
318T>C |
Asp106Asp |
M0139249 |
HOJOELEB_00034 |
44971 |
9 |
Oral |
0.39 |
protein_coding |
synonymous_variant |
LOW |
153T>A |
Ile51Ile |
M0139250 |
HOJOELEB_00031 |
45371 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3002G>A |
None |
M0139251 |
HOJOELEB_00031 |
45372 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3003T>A |
None |
M0139252 |
HOJOELEB_00031 |
45374 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3005C>T |
None |
M0139253 |
HOJOELEB_00031 |
46205 |
9 |
Oral |
0.39 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3836C>T |
None |
M0139254 |
HOJOELEB_00031 |
46573 |
8 |
Oral |
0.35 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4204C>A |
None |
M0139255 |
HOJOELEB_00036 |
47251 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
2613T>A |
Leu871Leu |
M0139256 |
HOJOELEB_00036 |
47779 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
2085A>G |
Ala695Ala |
M0139257 |
HOJOELEB_00036 |
49228 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
636T>C |
Tyr212Tyr |
M0139258 |
HOJOELEB_00036 |
49306 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
558T>C |
Asn186Asn |
M0139259 |
HOJOELEB_00034 |
49957 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4834T>C |
None |
M0139260 |
HOJOELEB_00038 |
50654 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
264T>A |
Pro88Pro |
M0139261 |
HOJOELEB_00038 |
50696 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
222A>G |
Ala74Ala |
M0139262 |
HOJOELEB_00036 |
53454 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3591A>C |
None |
M0139263 |
HOJOELEB_00036 |
53655 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3792T>C |
None |
M0139264 |
HOJOELEB_00042 |
55279 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
850T>G |
Leu284Val |
M0139265 |
HOJOELEB_00042 |
55560 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1131C>T |
Ala377Ala |
M0139266 |
HOJOELEB_00049 |
61039 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
123C>T |
Arg41Arg |
M0139267 |
HOJOELEB_00049 |
61048 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
114T>A |
Thr38Thr |
M0139268 |
HOJOELEB_00050 |
61816 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
112A>G |
Ile38Val |
M0139269 |
HOJOELEB_00052 |
62737 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1146C>T |
Asp382Asp |
M0139270 |
HOJOELEB_00054 |
64643 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
72C>T |
Thr24Thr |
M0139271 |
HOJOELEB_00058 |
69180 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1179A>G |
Glu393Glu |
M0139272 |
HOJOELEB_00054 |
69325 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4611C>T |
None |
M0139273 |
HOJOELEB_00059 |
70408 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
184T>G |
Phe62Val |
M0139274 |
HOJOELEB_00059 |
70434 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
158C>T |
Ala53Val |
M0139275 |
HOJOELEB_00060 |
70999 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
291C>A |
His97Gln |
M0139276 |
HOJOELEB_00060 |
71263 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
27T>A |
His9Gln |
M0139277 |
HOJOELEB_00059 |
71638 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1047T>C |
None |
M0139278 |
HOJOELEB_00059 |
71645 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1054A>G |
None |
M0139279 |
HOJOELEB_00001 |
1780 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1053C>T |
Asn351Asn |
M0139280 |
HOJOELEB_00020 |
28791 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4871G>A |
None |
M0139281 |
HOJOELEB_00021 |
29048 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3994A>G |
None |
M0139282 |
HOJOELEB_00029 |
38385 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
90A>G |
Gly30Gly |
M0139283 |
HOJOELEB_00029 |
38776 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
481A>G |
Ile161Val |
M0139284 |
HOJOELEB_00030 |
39221 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
40A>G |
Ile14Val |
M0139285 |
HOJOELEB_00027 |
40185 |
8 |
Oral |
0.35 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3685G>A |
None |
M0139286 |
HOJOELEB_00031 |
41876 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
494C>A |
Thr165Asn |
M0139287 |
HOJOELEB_00031 |
42157 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
213A>G |
Arg71Arg |
M0139288 |
HOJOELEB_00033 |
43621 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
483A>G |
Lys161Lys |
M0139289 |
HOJOELEB_00033 |
43648 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
456T>C |
Tyr152Tyr |
M0139290 |
HOJOELEB_00033 |
43705 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
399A>G |
Thr133Thr |
M0139291 |
HOJOELEB_00033 |
43936 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
168A>T |
Thr56Thr |
M0139292 |
HOJOELEB_00034 |
44632 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
492C>A |
Ile164Ile |
M0139293 |
HOJOELEB_00034 |
44884 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
240C>A |
Ser80Ser |
M0139294 |
HOJOELEB_00034 |
44902 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
222C>A |
Ala74Ala |
M0139295 |
HOJOELEB_00031 |
46330 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3961C>A |
None |
M0139296 |
HOJOELEB_00031 |
46336 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3967C>A |
None |
M0139297 |
HOJOELEB_00031 |
46389 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4020C>T |
None |
M0139298 |
HOJOELEB_00031 |
46626 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4257A>G |
None |
M0139299 |
HOJOELEB_00031 |
46666 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4297T>C |
None |
M0139300 |
HOJOELEB_00031 |
46695 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4326G>T |
None |
M0139301 |
HOJOELEB_00031 |
46696 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4327T>C |
None |
M0139302 |
HOJOELEB_00036 |
47077 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
2787G>A |
Gln929Gln |
M0139303 |
HOJOELEB_00036 |
47116 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
2748C>T |
Asn916Asn |
M0139304 |
HOJOELEB_00036 |
47314 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2550C>T |
Ile850Ile |
M0139305 |
HOJOELEB_00036 |
48076 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1788C>T |
Thr596Thr |
M0139306 |
HOJOELEB_00039 |
52137 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
267C>T |
Asn89Asn |
M0139307 |
HOJOELEB_00040 |
53021 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
306C>T |
Thr102Thr |
M0139308 |
HOJOELEB_00036 |
54353 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4490A>C |
None |
M0139309 |
HOJOELEB_00036 |
54371 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4508A>G |
None |
M0139310 |
HOJOELEB_00048 |
60498 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
164G>A |
Arg55His |
M0139311 |
HOJOELEB_00048 |
60515 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
147T>G |
Arg49Arg |
M0139312 |
HOJOELEB_00055 |
65027 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
537T>G |
Ala179Ala |
M0139313 |
HOJOELEB_00055 |
65030 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
534G>T |
Leu178Leu |
M0139314 |
HOJOELEB_00055 |
65390 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
174C>T |
Asn58Asn |
M0139315 |
HOJOELEB_00055 |
65408 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
156A>C |
Leu52Leu |
M0139316 |
HOJOELEB_00055 |
65412 |
8 |
Oral |
0.35 |
protein_coding |
missense_variant |
MODERATE |
152A>T |
Asn51Ile |
M0139317 |
HOJOELEB_00054 |
69438 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4724G>A |
None |
M0139318 |
HOJOELEB_00027 |
40095 |
4 |
Oral |
0.17 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3595G>A |
None |
M0139319 |
HOJOELEB_00027 |
40345 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3845T>A |
None |
M0139320 |
HOJOELEB_00027 |
40568 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*4068A>C |
None |
M0139321 |
HOJOELEB_00035 |
40801 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4860C>A |
None |
M0139322 |
HOJOELEB_00036 |
50925 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1062G>A |
None |
M0139323 |
HOJOELEB_00036 |
51158 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1295T>C |
None |
M0139324 |
HOJOELEB_00042 |
54940 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
511A>G |
Asn171Asp |
M0139325 |
HOJOELEB_00038 |
55771 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4854T>C |
None |
M0139326 |
HOJOELEB_00043 |
57321 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
763T>C |
Leu255Leu |
M0139327 |
HOJOELEB_00046 |
59709 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
13C>T |
Leu5Leu |
M0139328 |
HOJOELEB_00052 |
63039 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
844A>G |
Lys282Glu |
M0139329 |
HOJOELEB_00052 |
63453 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
430G>A |
Val144Ile |
M0139330 |
HOJOELEB_00054 |
64640 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
75A>G |
Val25Val |
M0139331 |
HOJOELEB_00059 |
71849 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1258G>A |
None |
M0139332 |
HOJOELEB_00059 |
71927 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1336G>C |
None |
M0139333 |
HOJOELEB_00031 |
42713 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-344A>G |
None |
M0139334 |
HOJOELEB_00031 |
42716 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-347C>T |
None |
M0139335 |
HOJOELEB_00031 |
42746 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-377C>G |
None |
M0139336 |
HOJOELEB_00031 |
45485 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3116A>C |
None |
M0139337 |
HOJOELEB_00035 |
45936 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
276T>C |
Asp92Asp |
M0139338 |
HOJOELEB_00031 |
46600 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4231T>C |
None |
M0139339 |
HOJOELEB_00031 |
46602 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4233A>T |
None |
M0139340 |
HOJOELEB_00031 |
46607 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4238A>T |
None |
M0139341 |
HOJOELEB_00036 |
47359 |
8 |
Oral |
0.35 |
protein_coding |
synonymous_variant |
LOW |
2505A>C |
Thr835Thr |
M0139342 |
HOJOELEB_00036 |
49470 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
394A>G |
Thr132Ala |
M0139343 |
HOJOELEB_00036 |
50974 |
7 |
Oral |
0.30 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1111A>G |
None |
M0139344 |
HOJOELEB_00036 |
50976 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1113G>A |
None |
M0139345 |
HOJOELEB_00042 |
55410 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
981A>G |
Leu327Leu |
M0139346 |
HOJOELEB_00039 |
56193 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3790T>A |
None |
M0139347 |
HOJOELEB_00039 |
56387 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3984A>G |
None |
M0139348 |
HOJOELEB_00044 |
58161 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
402C>T |
Phe134Phe |
M0139349 |
HOJOELEB_00045 |
58493 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
231G>T |
Gly77Gly |
M0139350 |
HOJOELEB_00046 |
61220 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1499A>T |
None |
M0139351 |
HOJOELEB_00052 |
62728 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
1155T>C |
Gly385Gly |
M0139352 |
HOJOELEB_00051 |
67625 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4980T>A |
None |
M0139353 |
HOJOELEB_00054 |
69212 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4498T>G |
None |
M0139354 |
HOJOELEB_00031 |
42754 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-385T>G |
None |
M0139355 |
HOJOELEB_00036 |
49186 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
678C>T |
Ile226Ile |
M0139356 |
HOJOELEB_00038 |
55889 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4972A>T |
None |
M0139357 |
HOJOELEB_00038 |
55890 |
6 |
Oral |
0.26 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4973T>C |
None |
M0139358 |
HOJOELEB_00039 |
56349 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3946A>G |
None |
M0139359 |
HOJOELEB_00043 |
57164 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
606T>G |
Arg202Arg |
M0139360 |
HOJOELEB_00044 |
57808 |
5 |
Oral |
0.22 |
protein_coding |
missense_variant |
MODERATE |
49A>G |
Lys17Glu |
M0139361 |
HOJOELEB_00041 |
58760 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4666T>G |
None |
M0139362 |
HOJOELEB_00055 |
65243 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
321G>A |
Val107Val |
M0139363 |
HOJOELEB_00059 |
73757 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3166A>C |
None |
M0139364 |
HOJOELEB_00065 |
74657 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
144G>A |
Glu48Glu |
M0139365 |
HOJOELEB_00069 |
82732 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4870A>G |
None |
M0139366 |
HOJOELEB_00069 |
82740 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4878G>A |
None |
M0139367 |
HOJOELEB_00075 |
83408 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
135C>T |
Val45Val |
M0139368 |
HOJOELEB_00075 |
83411 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
138C>T |
Pro46Pro |
M0139369 |
HOJOELEB_00075 |
83418 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
145A>G |
Asn49Asp |
M0139370 |
HOJOELEB_00075 |
83536 |
7 |
Oral |
0.30 |
protein_coding |
missense_variant |
MODERATE |
263T>C |
Ile88Thr |
M0139371 |
HOJOELEB_00075 |
83775 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
502C>G |
Gln168Glu |
M0139372 |
HOJOELEB_00075 |
84575 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1302A>C |
Gly434Gly |
M0139373 |
HOJOELEB_00075 |
84921 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1648G>A |
Val550Ile |
M0139374 |
HOJOELEB_00075 |
85299 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
2026A>C |
Asn676His |
M0139375 |
HOJOELEB_00075 |
85304 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
2031G>A |
Ala677Ala |
M0139376 |
HOJOELEB_00072 |
85411 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4593A>T |
None |
M0139377 |
HOJOELEB_00072 |
85414 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4596C>T |
None |
M0139378 |
HOJOELEB_00078 |
90102 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
681G>A |
Glu227Glu |
M0139379 |
HOJOELEB_00076 |
90780 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3929C>A |
None |
M0139380 |
HOJOELEB_00080 |
92758 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1512A>G |
Thr504Thr |
M0139381 |
HOJOELEB_00080 |
92884 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
1386G>A |
Val462Val |
M0139382 |
HOJOELEB_00080 |
92893 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1377A>G |
Thr459Thr |
M0139383 |
HOJOELEB_00081 |
94387 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
38C>T |
Ser13Leu |
M0139384 |
HOJOELEB_00082 |
95502 |
5 |
Oral |
0.22 |
protein_coding |
synonymous_variant |
LOW |
102A>G |
Leu34Leu |
M0139385 |
HOJOELEB_00080 |
97855 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3586C>T |
None |
M0139386 |
HOJOELEB_00084 |
98672 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
69G>A |
Leu23Leu |
M0139387 |
HOJOELEB_00084 |
98874 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
271C>T |
His91Tyr |
M0139388 |
HOJOELEB_00027 |
39898 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3398G>C |
None |
M0139389 |
HOJOELEB_00027 |
40019 |
3 |
Oral |
0.13 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3519T>C |
None |
M0139390 |
HOJOELEB_00027 |
40044 |
4 |
Oral |
0.17 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3544C>T |
None |
M0139391 |
HOJOELEB_00031 |
46173 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3804T>A |
None |
M0139392 |
HOJOELEB_00036 |
48150 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
1714C>A |
Leu572Met |
M0139393 |
HOJOELEB_00036 |
50965 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-1102A>G |
None |
M0139394 |
HOJOELEB_00059 |
73709 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3118T>A |
None |
M0139395 |
HOJOELEB_00059 |
73938 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3347C>T |
None |
M0139396 |
HOJOELEB_00059 |
74287 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3696C>T |
None |
M0139397 |
HOJOELEB_00065 |
75233 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
720A>T |
Ala240Ala |
M0139398 |
HOJOELEB_00070 |
82949 |
5 |
Oral |
0.22 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4053T>G |
None |
M0139399 |
HOJOELEB_00075 |
83428 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
155C>T |
Thr52Ile |
M0139400 |
HOJOELEB_00075 |
83888 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
615T>A |
Ala205Ala |
M0139401 |
HOJOELEB_00072 |
85624 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4806C>T |
None |
M0139402 |
HOJOELEB_00077 |
89022 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
315C>T |
Thr105Thr |
M0139403 |
HOJOELEB_00080 |
93127 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
1143C>A |
Ser381Ser |
M0139404 |
HOJOELEB_00036 |
53636 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3773T>A |
None |
M0139405 |
HOJOELEB_00036 |
53639 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3776G>A |
None |
M0139406 |
HOJOELEB_00041 |
53951 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
144G>A |
Glu48Glu |
M0139407 |
HOJOELEB_00036 |
54222 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-4359C>A |
None |
M0139408 |
HOJOELEB_00059 |
69974 |
4 |
Oral |
0.17 |
protein_coding |
synonymous_variant |
LOW |
618C>A |
Ile206Ile |
M0139409 |
HOJOELEB_00059 |
74104 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3513G>A |
None |
M0139410 |
HOJOELEB_00075 |
83554 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
281C>A |
Pro94Gln |
M0139411 |
HOJOELEB_00075 |
83892 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
619G>A |
Asp207Asn |
M0139412 |
HOJOELEB_00075 |
83973 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
700G>A |
Gly234Ser |
M0139413 |
HOJOELEB_00075 |
84065 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
792A>G |
Leu264Leu |
M0139414 |
HOJOELEB_00075 |
84657 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1384G>A |
Glu462Lys |
M0139415 |
HOJOELEB_00075 |
84659 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1386A>C |
Glu462Asp |
M0139416 |
HOJOELEB_00075 |
84660 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1387G>T |
Val463Leu |
M0139417 |
HOJOELEB_00075 |
84744 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1471G>A |
Asp491Asn |
M0139418 |
HOJOELEB_00075 |
84987 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1714A>G |
Met572Val |
M0139419 |
HOJOELEB_00075 |
85054 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1781A>C |
Lys594Thr |
M0139420 |
HOJOELEB_00075 |
85173 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1900A>G |
Arg634Gly |
M0139421 |
HOJOELEB_00075 |
85175 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1902G>T |
Arg634Ser |
M0139422 |
HOJOELEB_00078 |
86020 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3402C>T |
None |
M0139423 |
HOJOELEB_00078 |
86022 |
4 |
Oral |
0.17 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3400T>G |
None |
M0139424 |
HOJOELEB_00076 |
87036 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-185A>G |
None |
M0139425 |
HOJOELEB_00077 |
88556 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
781G>A |
Gly261Ser |
M0139426 |
HOJOELEB_00078 |
89630 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
209G>A |
Arg70Lys |
M0139427 |
HOJOELEB_00023 |
27173 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
384T>C |
Ser128Ser |
M0139428 |
HOJOELEB_00021 |
29012 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3958A>G |
None |
M0139429 |
HOJOELEB_00027 |
39937 |
4 |
Oral |
0.17 |
protein_coding |
downstream_gene_variant |
MODIFIER |
*3437A>G |
None |
M0139430 |
HOJOELEB_00057 |
67255 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
525T>C |
Phe175Phe |
M0139431 |
HOJOELEB_00058 |
68379 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
378T>A |
Pro126Pro |
M0139432 |
HOJOELEB_00063 |
73207 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
70A>G |
Ser24Gly |
M0139433 |
HOJOELEB_00063 |
73381 |
4 |
Oral |
0.17 |
protein_coding |
missense_variant |
MODERATE |
244A>G |
Asn82Asp |
M0139434 |
HOJOELEB_00070 |
78641 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
256T>C |
Leu86Leu |
M0139435 |
HOJOELEB_00042 |
55393 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
964A>G |
Lys322Glu |
M0139436 |
HOJOELEB_00042 |
55438 |
3 |
Oral |
0.13 |
protein_coding |
missense_variant |
MODERATE |
1009G>A |
Asp337Asn |
M0139437 |
HOJOELEB_00039 |
55929 |
3 |
Oral |
0.13 |
protein_coding |
upstream_gene_variant |
MODIFIER |
-3526T>G |
None |
M0139438 |
HOJOELEB_00059 |
70415 |
3 |
Oral |
0.13 |
protein_coding |
synonymous_variant |
LOW |
177G>A |
Leu59Leu |
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 |
HOJOELEB_00080 |
QUB54911.1|GT51 |
93.6 |
0 |
1 |
767 |
1 |
1 |
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 |