Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

Autoinhibited structure

Activated structure

1 structures for Q9H239

Entry ID Method Resolution Chain Position Source
AF-Q9H239-F1 Predicted AlphaFoldDB

568 variants for Q9H239

Variant ID(s) Position Change Description Diseaes Association Provenance
TCGA novel 1 M>? Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290098914
rs554782960
2 V>A No ClinGen
1000Genomes
TOPMed
gnomAD
CA290098905
rs987667402
4 R>C No ClinGen
TOPMed
gnomAD
rs901164018
CA290098904
5 V>A No TOPMed
ClinGen
CA399154071
rs1238042590
5 V>F No ClinGen
TOPMed
gnomAD
rs1238042590
CA399154073
5 V>I No TOPMed
gnomAD
ClinGen
rs1039749469
CA290098902
6 G>A No TOPMed
gnomAD
ClinGen
CA399154063
rs1187768478
7 L>I No TOPMed
ClinGen
rs1350184108
CA399154053
8 L>R No gnomAD
ClinGen
rs1448764315
CA399154045
10 R>C No gnomAD
ClinGen
rs1292593615
CA399154036
11 A>V No TOPMed
gnomAD
ClinGen
rs750549071
CA290098861
13 Q>H No ExAC
gnomAD
ClinGen
CA290098866
rs754833581
13 Q>P No ExAC
gnomAD
ClinGen
rs1438516193
CA399154002
17 W>C No ClinGen
gnomAD
rs757238191
CA399153972
22 A>S No ExAC
TOPMed
gnomAD
ClinGen
CA290098834
rs757238191
22 A>T No ExAC
TOPMed
gnomAD
ClinGen
rs930147227
CA290098830
22 A>V No TOPMed
ClinGen
rs1265628259
CA399153952
25 A>E No ClinGen
TOPMed
gnomAD
rs1265628259
CA399153950
25 A>V No TOPMed
gnomAD
ClinGen
CA399153946
rs1392385365
26 E>G No ClinGen
TOPMed
gnomAD
rs1338892568
CA399153939
27 R>C No TOPMed
ClinGen
CA399153933
rs1488963679
28 G>E No gnomAD
ClinGen
rs201598708
TCGA novel
CA290098821
28 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
NCI-TCGA
ClinGen
rs1267436021
CA399153928
29 G>S No gnomAD
ClinGen
CA399153922
rs1214597769
30 Q>* No ClinGen
gnomAD
CA399153918
rs1568216457
30 Q>H No ClinGen
Ensembl
CA399153910
rs963801814
CA290098809
31 E>D No TOPMed
gnomAD
ClinGen
rs764144708
CA290098791
33 R>L No ClinGen
ExAC
gnomAD
rs1016320009
CA290098794
33 R>S No ClinGen
Ensembl
CA290098789
rs763434043
35 E>K No ClinGen
ExAC
gnomAD
rs1432275758
CA399153878
37 E>Q No TOPMed
gnomAD
ClinGen
rs1555608692
CA399151986
38 A>T No gnomAD
ClinGen
CA290089486
rs200955662
38 A>V No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
rs1555608682
CA399151968
41 E>* No gnomAD
ClinGen
CA399151963
rs1555608681
41 E>D No gnomAD
ClinGen
rs1555608682
CA399151970
41 E>K No ClinGen
gnomAD
CA399151969
rs1555608682
41 E>Q No gnomAD
ClinGen
CA290089466
rs181150846
44 G>* No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA290089468
rs181150846
44 G>R No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA290089461
rs552076033
44 G>V No ClinGen
1000Genomes
CA399151936
rs1555608660
45 Y>* No ClinGen
gnomAD
CA399151933
rs1555608656
46 L>F No gnomAD
ClinGen
CA290089452
rs772754493
48 E>D No ExAC
gnomAD
ClinGen
CA399151921
rs1223843467
48 E>K No ClinGen
TOPMed
CA290089451
rs771642501
49 Q>* No ClinGen
ExAC
TOPMed
gnomAD
CA290089445
rs761444557
50 V>D No ExAC
gnomAD
ClinGen
CA399151907
rs1009727691
50 V>I No ClinGen
gnomAD
CA290089449
rs1009727691
50 V>L No ClinGen
gnomAD
CA399151898
rs1342355706
51 P>L No ClinGen
TOPMed
CA399151896
rs1555608627
52 K>E No gnomAD
ClinGen
CA290089444
rs201680056
52 K>T No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
CA399151890
rs1555608621
53 A>T No ClinGen
gnomAD
CA399151883
rs1555608618
54 P>S No gnomAD
ClinGen
CA399151877
rs1555608615
55 T>A No gnomAD
ClinGen
CA290089443
rs768696597
57 T>A No ClinGen
ExAC
gnomAD
rs749225885
CA290089440
58 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
rs779882824
CA399151860
58 R>P No ClinGen
ExAC
TOPMed
gnomAD
rs779882824
CA290089436
58 R>Q No ClinGen
ExAC
TOPMed
gnomAD
rs1263041837
CA399151858
59 F>L No TOPMed
ClinGen
rs769487242
CA290089417
60 S>N No ClinGen
ExAC
TOPMed
gnomAD
rs777998075
CA290089407
61 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1555608574
CA399151832
62 A>G No ClinGen
gnomAD
CA399151831
rs1555608574
62 A>V No ClinGen
gnomAD
TCGA novel 64 R>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs201925301
CA290089281
65 A>T No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs560975119
CA290089280
65 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
gnomAD
rs763590338
CA290089273
67 Q>R No ExAC
gnomAD
ClinGen
CA290089269
rs775445556
CA290089264
69 V>L No ExAC
TOPMed
gnomAD
ClinGen
rs1378575627
CA399151772
70 S>T No ClinGen
TOPMed
gnomAD
CA399151771
rs1555608458
70 S>Y No ClinGen
gnomAD
rs1568173984
CA399151755
73 P>T No Ensembl
ClinGen
TCGA novel 75 S>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399151736
rs765062835
75 S>R No ExAC
TOPMed
gnomAD
ClinGen
rs759557284
CA290089255
76 G>S No ClinGen
ExAC
TOPMed
gnomAD
rs770768624
CA290089249
77 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs968106578
CA399151718
79 D>H No Ensembl
ClinGen
rs968106578
CA290089234
79 D>N No Ensembl
ClinGen
TCGA novel 79 D>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs373463098
CA290089206
80 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA290089202
rs531148530
80 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs373463098
CA399151711
80 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs749353494
CA290089199
81 A>T No ClinGen
ExAC
gnomAD
TCGA novel 82 T>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290089198
rs780233358
83 L>P No ExAC
gnomAD
ClinGen
CA290089194
rs375923654
84 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs200590299
CA290089191
84 R>H No ClinGen
ExAC
TOPMed
gnomAD
rs766859009
CA290089190
88 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs757698905
CA290089189
88 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs1568173515
CA399151657
89 P>L No Ensembl
ClinGen
CA290089185
rs751213333
89 P>T No ClinGen
ExAC
gnomAD
CA290089183
rs545716418
90 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs901981147
CA290089166
90 R>H No ClinGen
TOPMed
gnomAD
CA399151653
rs901981147
90 R>L No TOPMed
gnomAD
ClinGen
rs199792911
CA290089154
92 G>R No ESP
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 92 G>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs973259197
CA290089149
93 V>I No ClinGen
TOPMed
CA290089124
rs759455709
94 T>R No ExAC
gnomAD
ClinGen
TCGA novel 95 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290089120
rs776564710
96 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs766097476
CA290089119
96 T>I No ClinGen
ExAC
TOPMed
gnomAD
rs776564710
CA399151621
96 T>P No ExAC
TOPMed
gnomAD
ClinGen
CA290089116
rs889362604
97 N>D No Ensembl
ClinGen
CA399151611
rs1555608382
97 N>K No gnomAD
ClinGen
CA399151606
rs1555608373
98 S>I No gnomAD
ClinGen
rs760494318
CA290089112
98 S>R No ClinGen
ExAC
gnomAD
CA290089107
rs750488670
100 A>E No ClinGen
ExAC
gnomAD
TCGA novel 100 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290089102
rs750488670
100 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
TCGA novel 102 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399151584
rs1555608371
102 W>R No gnomAD
ClinGen
rs573447178
CA290089094
104 E>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
CA399151569
rs1555608369
104 E>K No ClinGen
gnomAD
rs1568173027
CA399151565
104 E>V No Ensembl
ClinGen
rs775429933
CA399151563
105 R>G No ExAC
TOPMed
gnomAD
ClinGen
rs775429933
CA290089090
105 R>W No ExAC
TOPMed
gnomAD
ClinGen
CA399151546
rs1555608352
107 S>N No gnomAD
ClinGen
CA290089088
rs908525502
109 L>S No TOPMed
gnomAD
ClinGen
rs1049352294
CA290089086
111 A>D No ClinGen
Ensembl
TCGA novel 111 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399151514
rs1340326070
112 R>G No TOPMed
gnomAD
ClinGen
rs1219856597
CA399151505
113 H>Y No ClinGen
TOPMed
TCGA novel 114 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290089058
rs562955735
114 R>Q No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs746307365
CA290089062
114 R>W Variant assessed as Somatic; 9.282e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs375453890
CA290089056
115 T>A No ESP
TOPMed
gnomAD
ClinGen
rs747351869
CA290089051
115 T>I No ExAC
gnomAD
ClinGen
CA290089050
rs747351869
115 T>N No ExAC
gnomAD
ClinGen
TCGA novel 116 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290089049
rs778238911
117 M>R No ExAC
TOPMed
gnomAD
ClinGen
rs778238911
CA399151481
117 M>T No ExAC
TOPMed
gnomAD
ClinGen
rs762050128
CA290089045
118 R>G No ClinGen
Ensembl
CA290089042
rs757981837
119 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs368472692
CA290089041
119 R>H No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 119 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 120 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290089040
rs764592511
122 R>C No ExAC
gnomAD
ClinGen
rs1555608283
CA399151440
122 R>H No ClinGen
gnomAD
rs542660936
CA290089036
126 Q>* No ClinGen
1000Genomes
ExAC
gnomAD
TCGA novel 127 G>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1204893122
CA399150809
128 N>D No ClinGen
TOPMed
rs750434930
CA290085176
128 N>K No ClinGen
ExAC
gnomAD
CA290085178
rs756045524
128 N>S No ClinGen
ExAC
gnomAD
CA290085168
rs201780117
129 K>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 129 K>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399150786
rs1555606647
130 W>C No ClinGen
gnomAD
rs752810494
CA290085144
130 W>R No ExAC
gnomAD
ClinGen
rs919211337
CA290085140
135 L>I No Ensembl
ClinGen
CA290085139
rs973134377
135 L>P No ClinGen
Ensembl
CA290085138
rs560605503
136 S>Y No ExAC
TOPMed
gnomAD
ClinGen
rs759874056
CA290085133
138 R>C No ExAC
TOPMed
gnomAD
ClinGen
CA399150701
rs1013683814
138 R>H No ClinGen
TOPMed
gnomAD
CA290085117
rs1013683814
138 R>L No TOPMed
gnomAD
ClinGen
rs759874056
CA399150703
138 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs1033851665
CA290085110
142 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
Ensembl
NCI-TCGA
rs1555606620
CA399150662
142 W>G No ClinGen
gnomAD
CA290085093
rs771193067
144 E>* No ClinGen
ExAC
TOPMed
gnomAD
CA399150639
CA290085084
rs532099250
144 E>D No ClinGen
1000Genomes
ExAC
gnomAD
rs773773026
CA290085081
145 H>R No ExAC
TOPMed
gnomAD
ClinGen
CA290085075
rs201410342
147 P>A No ClinGen
ExAC
CA290085063
rs879018115
147 P>L No ClinGen
TOPMed
CA399150605
rs1555606552
148 E>G No gnomAD
ClinGen
rs1555606553
CA399150610
148 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA290085037
rs560787866
149 P>L No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA290085036
rs560787866
149 P>Q No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA290085039
rs779299235
149 P>S No ClinGen
ExAC
CA399150577
rs1314636123
151 V>F No TOPMed
ClinGen
rs755638138
CA399150570
152 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs540834874
CA290084983
152 R>P No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs540834874
CA290084992
152 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
1000Genomes
ExAC
NCI-TCGA
TOPMed
gnomAD
rs755638138
CA290085005
152 R>W Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs115343634
CA290084982
153 G>D No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA290084964
rs751333303
154 A>T No ExAC
TOPMed
gnomAD
ClinGen
rs754124166
CA290084952
155 V>M No ExAC
TOPMed
gnomAD
ClinGen
CA290084948
rs766498522
156 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA290084951
rs766498522
156 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA290084942
rs760841295
156 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA399150535
rs766498522
156 R>S No ExAC
TOPMed
gnomAD
ClinGen
CA290084925
rs768046033
157 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs575740651
CA290084900
158 A>T No ClinGen
1000Genomes
gnomAD
rs1410002860
CA399150510
158 A>V No ClinGen
TOPMed
rs1299556556
CA399150488
160 Q>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs376773362
CA290084896
162 W>* No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs376773362
CA290084894
162 W>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
TCGA novel 162 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399150452
rs1555606458
163 S>R No gnomAD
ClinGen
rs1390323440
CA399150460
163 S>R No TOPMed
ClinGen
CA399150440
rs1555606445
165 V>D No ClinGen
gnomAD
CA399150443
rs1555606447
165 V>I No ClinGen
gnomAD
CA399150429
rs1244196176
167 A>S No TOPMed
gnomAD
ClinGen
CA290084885
rs769133820
167 A>V No ExAC
TOPMed
gnomAD
ClinGen
CA290084873
rs373261169
168 L>P No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA290084857
rs377300676
169 E>D No ClinGen
Ensembl
TCGA novel 170 F>missing Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290084850
rs573260163
171 W>L No 1000Genomes
ExAC
gnomAD
ClinGen
CA290084846
rs961646838
173 A>V No gnomAD
ClinGen
CA290084830
rs777653586
175 A>D No ClinGen
ExAC
TOPMed
gnomAD
CA399150377
rs777653586
175 A>G No ClinGen
ExAC
TOPMed
gnomAD
CA290084824
rs758271265
177 G>D No ClinGen
ExAC
gnomAD
CA290084791
rs372443837
179 A>T No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA399150340
rs1598434341
181 I>M No ClinGen
Ensembl
CA399150342
rs767563445
181 I>N No ExAC
TOPMed
gnomAD
ClinGen
CA290084774
rs767563445
181 I>S No ExAC
TOPMed
gnomAD
ClinGen
CA290084761
rs368769155
182 R>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs762370811
CA290084770
182 R>W No ExAC
TOPMed
gnomAD
ClinGen
CA290084749
rs375265707
183 L>F No ESP
ExAC
gnomAD
ClinGen
rs1172011145
CA399150326
184 T>I No ClinGen
TOPMed
gnomAD
rs1555606372
CA399150314
186 F>C No ClinGen
gnomAD
TCGA novel 186 F>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs1555606370
CA399150303
187 Q>H No ClinGen
gnomAD
rs775878320
CA290084743
189 D>E No ExAC
gnomAD
ClinGen
TCGA novel 189 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399150282
rs1352456425
190 H>Q No TOPMed
ClinGen
CA290084739
rs372323971
191 N>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs776189829
CA290084736
192 D>N No ExAC
gnomAD
ClinGen
rs1385585901
CA399150266
193 G>R No TOPMed
gnomAD
ClinGen
TCGA novel 193 G>W Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs759605469
CA290084729
198 F>S No gnomAD
ClinGen
TCGA novel 200 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290084727
rs746875822
200 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA399150209
rs746875822
200 G>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 201 P>= Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399150189
CA290084720
rs777884367
202 G>R No ExAC
gnomAD
ClinGen
CA290082478
rs753052718
203 G>D No ExAC
TOPMed
gnomAD
ClinGen
rs1013029066
CA290082468
204 A>V No ClinGen
TOPMed
TCGA novel 206 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399149744
rs765574799
207 H>Q No ClinGen
ExAC
gnomAD
TCGA novel 207 H>Y Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399149742
rs1555605139
208 A>T No gnomAD
ClinGen
TCGA novel 208 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs529273884
CA290082436
209 F>S No 1000Genomes
ClinGen
CA290082430
rs1033215349
211 P>S No ClinGen
TOPMed
CA290082421
rs776151150
212 R>C No ExAC
TOPMed
gnomAD
ClinGen
CA399149718
rs776151150
212 R>G No ClinGen
ExAC
TOPMed
gnomAD
CA290082414
rs1000026322
212 R>H No TOPMed
gnomAD
ClinGen
CA399149716
rs1000026322
212 R>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
rs776151150
CA399149719
212 R>S No ClinGen
ExAC
TOPMed
gnomAD
rs770434341
CA290082412
213 R>G No ExAC
TOPMed
gnomAD
ClinGen
CA399149713
rs760282921
213 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA290082411
rs760282921
213 R>P No ClinGen
ExAC
TOPMed
gnomAD
CA399149715
rs770434341
213 R>S No ClinGen
ExAC
TOPMed
gnomAD
CA399149711
rs563321974
214 G>C No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA290082384
rs563321974
214 G>R No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA290082398
rs563321974
214 G>S No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA399149705
rs1326416466
215 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
gnomAD
CA399149694
rs1555605098
216 A>V No gnomAD
ClinGen
rs778757734
CA290082374
218 F>C No ExAC
TOPMed
gnomAD
ClinGen
rs973973035
CA399149679
218 F>L No ClinGen
TOPMed
gnomAD
CA399149673
rs1555605066
219 D>E Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
CA290082349
rs550042644
219 D>G No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1555605078
CA399149676
219 D>N No gnomAD
ClinGen
rs746039705
CA290082342
220 Q>K No ClinGen
ExAC
gnomAD
CA290082332
rs781304682
220 Q>R No ClinGen
ExAC
TOPMed
gnomAD
rs751603102
CA290082317
221 D>G No ClinGen
ExAC
gnomAD
CA399149665
rs757516159
221 D>H No ClinGen
ExAC
gnomAD
rs757516159
CA290082319
221 D>N No ClinGen
ExAC
gnomAD
CA290082311
rs372881071
223 R>H No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs372881071
CA290082310
223 R>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs372881071
CA399149649
223 R>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA290082315
rs777893799
223 R>S No ClinGen
ExAC
gnomAD
CA290082288
rs765569858
225 S>F No ClinGen
ExAC
gnomAD
rs943402562
CA290082278
227 S>C No TOPMed
ClinGen
CA290082273
rs759849789
227 S>R No ClinGen
ExAC
gnomAD
rs368717030
CA290082249
228 R>H No ESP
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 229 R>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399149615
rs1187097680
229 R>H No ClinGen
TOPMed
rs533461832
CA290082242
230 R>H No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 230 R>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs771767357
CA290082212
231 G>E No ClinGen
ExAC
TOPMed
gnomAD
CA290082228
TCGA novel
rs772845386
231 G>R Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
TOPMed
gnomAD
NCI-TCGA
rs761787539
CA290082204
232 R>C No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 232 R>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs370806648
CA290082198
232 R>L No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA399149603
rs761787539
232 R>S No ExAC
TOPMed
gnomAD
ClinGen
CA399149593
rs1555605014
233 N>K No gnomAD
ClinGen
rs377269394
CA290082183
234 L>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs377269394
CA290082193
234 L>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1555604998
CA399149582
235 F>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
rs749064025
CA290082176
236 V>M No ClinGen
ExAC
TOPMed
gnomAD
rs757624583
CA290082155
239 A>V No ClinGen
ExAC
TOPMed
gnomAD
rs1555604990
CA399149558
240 H>N No ClinGen
gnomAD
CA290082148
rs370434781
240 H>Q No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs758475977
CA290082143
241 E>K No ClinGen
ExAC
TOPMed
gnomAD
rs758475977
CA399149551
241 E>Q No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 243 G>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399149536
rs1555604979
243 G>R No gnomAD
ClinGen
CA290082116
rs755557404
244 H>Q No ExAC
TOPMed
gnomAD
ClinGen
CA290082115
rs754121685
245 T>M No ClinGen
ExAC
gnomAD
TCGA novel 246 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290082099
rs750115316
247 G>D No ExAC
TOPMed
ClinGen
CA290082093
rs767071995
248 L>F No ClinGen
ExAC
gnomAD
CA399149497
rs1555604961
250 H>N No gnomAD
ClinGen
rs761264052
CA290082084
250 H>Q No ClinGen
ExAC
gnomAD
CA290082089
rs970234000
250 H>R No ClinGen
Ensembl
rs372470385
CA290082083
251 S>A No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA290082055
rs564376727
251 S>L Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA399149491
rs372470385
251 S>P No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs564376727
CA399149488
251 S>W No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA290082045
rs775131064
253 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
rs373798048
CA290082042
254 P>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA399149472
rs373798048
254 P>R No ESP
ExAC
TOPMed
gnomAD
ClinGen
CA290082040
rs747166219
255 R>C No ClinGen
ExAC
TOPMed
gnomAD
rs747166219
CA290082039
255 R>G No ExAC
TOPMed
gnomAD
ClinGen
rs1386501340
CA399149468
255 R>L No TOPMed
ClinGen
rs1598425691
CA399149467
256 A>S No ClinGen
Ensembl
CA399149462
rs1598425675
256 A>V No Ensembl
ClinGen
rs772090801
CA290082029
259 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
rs1318313803
CA399149440
260 P>A No TOPMed
ClinGen
CA290082027
rs1040058004
260 P>R No TOPMed
ClinGen
CA399149432
rs1555604889
261 Y>C No gnomAD
ClinGen
CA399149435
rs1555604891
261 Y>H No gnomAD
ClinGen
CA290082011
rs573037463
262 Y>C No ClinGen
1000Genomes
gnomAD
rs779090998
CA290082019
262 Y>H No ClinGen
ExAC
gnomAD
rs755436729
CA290082008
263 K>E No ClinGen
ExAC
TOPMed
gnomAD
CA399149408
rs1347375733
265 L>M Variant assessed as Somatic; impact. [NCI-TCGA] No TOPMed
ClinGen
NCI-TCGA
rs1555604866
CA399149395
267 R>C No gnomAD
ClinGen
CA290081986
rs756554998
267 R>H No ClinGen
ExAC
gnomAD
CA399149390
rs1555604856
268 D>Y No ClinGen
gnomAD
rs1555604852
CA399149383
269 A>T No gnomAD
ClinGen
rs750058315
CA290081961
269 A>V No ExAC
gnomAD
ClinGen
rs1050820246
CA290081951
270 L>Q No Ensembl
ClinGen
CA399149378
rs1261000457
270 L>V No ClinGen
TOPMed
rs767304856
TCGA novel
CA290081941
273 W>C Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
ExAC
gnomAD
ClinGen
CA290081934
rs756987596
274 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA399149345
rs1555604842
275 D>N Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
rs1468734170
CA399149340
275 D>V No ClinGen
TOPMed
CA290081923
rs751024631
277 L>P No ClinGen
ExAC
gnomAD
rs1195215320
CA399149324
278 A>V No TOPMed
ClinGen
rs759347423
CA399149316
279 V>A No ClinGen
ExAC
TOPMed
gnomAD
rs759347423
CA290081868
279 V>G No ClinGen
ExAC
TOPMed
gnomAD
rs764976085
CA290081881
279 V>L No ClinGen
ExAC
gnomAD
CA290081888
rs764976085
279 V>M No ExAC
gnomAD
ClinGen
TCGA novel 280 Q>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs776458981
CA290081866
281 S>R No ExAC
gnomAD
ClinGen
CA290081863
rs774281780
282 L>P No ClinGen
ExAC
TOPMed
gnomAD
rs774281780
CA290081862
282 L>Q No ClinGen
ExAC
TOPMed
gnomAD
rs761885135
CA290080641
285 K>N No ClinGen
ExAC
gnomAD
rs1431256272
CA399148381
286 P>T No TOPMed
gnomAD
ClinGen
TCGA novel 288 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290080624
rs759609205
289 G>A No ClinGen
ExAC
gnomAD
rs759609205
CA290080634
289 G>D Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA399148349
rs774639772
289 G>R Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
gnomAD
ClinGen
NCI-TCGA
CA290080640
rs774639772
289 G>S No ExAC
gnomAD
ClinGen
rs759609205
CA290080623
289 G>V No ClinGen
ExAC
gnomAD
CA290080606
rs771327669
293 V>A No ExAC
TOPMed
gnomAD
ClinGen
rs375879517
CA290080611
293 V>I No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs539729285
CA290080601
296 P>Q No ClinGen
1000Genomes
ExAC
gnomAD
rs929595282
CA290080605
296 P>S No Ensembl
ClinGen
CA290080596
rs267604816
297 G>E Variant assessed as Somatic; impact. [NCI-TCGA] No Ensembl
ClinGen
NCI-TCGA
CA290080593
rs777501875
298 K>R No ExAC
gnomAD
ClinGen
TCGA novel 300 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs758034658
CA290080587
301 T>A No ClinGen
ExAC
TOPMed
gnomAD
rs1568137487
CA399148224
302 D>N No ClinGen
Ensembl
CA399148188
rs1555604280
306 W>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
gnomAD
rs1555604271
CA399148164
309 Y>* No ClinGen
gnomAD
TCGA novel 310 S>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs778460768
CA290080579
311 P>S No ExAC
gnomAD
ClinGen
TCGA novel 312 Q>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290080560
rs570864449
314 R>S No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs751685683
CA290080543
315 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs368500708
CA290080538
315 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA290080535
rs368500708
315 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs751685683
CA290080552
315 R>S No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 317 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290080511
rs370540313
318 T>M Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs1555604253
CA399148107
319 Q>* No ClinGen
gnomAD
rs760049945
CA290080495
320 G>V No ExAC
gnomAD
ClinGen
rs1555604245
CA399148094
321 P>S No gnomAD
ClinGen
CA290080460
rs76254587
323 Y>S No ClinGen
Ensembl
TCGA novel 327 S>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 328 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs773488573
CA290080450
329 D>E No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 329 D>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290080458
rs747375514
329 D>Y No ExAC
ClinGen
CA290080443
rs747857027
331 I>F No ExAC
gnomAD
ClinGen
rs752969197
CA290080123
334 D>G No ExAC
gnomAD
ClinGen
rs765365910
CA290080122
336 Q>* No ExAC
TOPMed
gnomAD
ClinGen
rs765365910
CA399147982
336 Q>K No ExAC
TOPMed
gnomAD
ClinGen
CA290080120
rs200216940
337 Q>* No ClinGen
gnomAD
CA399147966
rs1322176218
338 Q>K No ClinGen
TOPMed
CA399147951
rs1555604114
340 Y>C No gnomAD
ClinGen
rs1263365026
CA399147904
346 H>R No ClinGen
TOPMed
TCGA novel 347 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290080053
rs761151588
349 E>V No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 351 A>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399147846
rs1555604103
354 G>D No ClinGen
gnomAD
CA399147848
rs1555604105
354 G>S No ClinGen
gnomAD
CA399147836
rs376963669
355 N>K No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA290080023
rs373546365
356 V>F No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs373546365
CA290080028
356 V>I No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs373546365
CA290080018
356 V>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA290080011
rs768108095
357 S>L No ExAC
gnomAD
ClinGen
TCGA novel 358 E>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs371440451
CA290080005
360 R>C No ClinGen
ESP
ExAC
TOPMed
gnomAD
CA290080004
rs201181477
360 R>H No ESP
ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 361 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290079992
rs376846489
363 Q>H No ESP
ExAC
gnomAD
ClinGen
TCGA novel 364 E>A Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399147766
rs1598419099
367 V>L No Ensembl
ClinGen
CA290079977
rs755290122
368 G>R No ClinGen
ExAC
TOPMed
gnomAD
CA290079970
rs755290122
368 G>W No ClinGen
ExAC
TOPMed
gnomAD
rs1555604039
CA399147752
370 P>S No ClinGen
gnomAD
rs753946857
CA290079965
371 P>L No ExAC
TOPMed
gnomAD
ClinGen
CA399147742
rs753946857
371 P>R No ClinGen
ExAC
TOPMed
gnomAD
rs750644158 372 N>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No NCI-TCGA
CA290079958
rs1035217182
373 I>L No TOPMed
gnomAD
ClinGen
rs1276145863
CA399147730
373 I>T No ClinGen
TOPMed
rs766427332
CA290079956
375 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA399147719
rs766427332
375 A>T No ClinGen
ExAC
TOPMed
gnomAD
rs369105121
CA399147711
376 A>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1257046802
CA399147714
376 A>T No TOPMed
ClinGen
CA290079954
rs369105121
376 A>V Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA399147708
rs1555604004
377 A>T No ClinGen
gnomAD
CA290079910
rs762189335
378 V>M No ExAC
gnomAD
ClinGen
TCGA novel 381 N>T Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290079881
rs762583584
382 D>V No ExAC
gnomAD
ClinGen
rs1190825470
CA399147669
383 G>R No ClinGen
TOPMed
gnomAD
TCGA novel 385 F>L Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs775056613
CA290079873
386 Y>C No ClinGen
ExAC
TOPMed
gnomAD
TCGA novel 388 F>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 389 K>N Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290079867
rs745774492
389 K>R No ExAC
TOPMed
gnomAD
ClinGen
rs966593744
CA290079865
390 G>R No ClinGen
Ensembl
CA290079184
rs775032482
391 G>V No ExAC
TOPMed
gnomAD
ClinGen
rs769311015
CA290079161
392 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA290079154
rs558972752
392 R>Q No ClinGen
1000Genomes
ExAC
gnomAD
CA399147559
rs1343516538
393 C>S No TOPMed
gnomAD
ClinGen
CA399147550
rs1555603646
394 W>* No gnomAD
ClinGen
CA290079153
CA290079152
rs539276001
394 W>R Variant assessed as Somatic; impact. [NCI-TCGA] No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs770980548
CA290079146
395 R>K No ClinGen
ExAC
gnomAD
CA290079109
rs777645399
397 R>Q No ExAC
TOPMed
gnomAD
ClinGen
CA290079120
rs570288318
397 R>W No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
rs1356617694
CA399147525
398 G>C No ClinGen
TOPMed
gnomAD
CA290079101
rs771776742
398 G>D No ExAC
TOPMed
gnomAD
ClinGen
rs1356617694
CA399147527
398 G>S No TOPMed
gnomAD
ClinGen
CA399147518
rs1288984053
399 P>R No ClinGen
TOPMed
rs780170095
CA290079097
401 P>S No ExAC
TOPMed
gnomAD
ClinGen
CA399147508
rs780170095
401 P>T No ExAC
TOPMed
gnomAD
ClinGen
rs868853158
CA290079090
402 V>L No Ensembl
ClinGen
CA290079084
rs866619470
403 W>C No ClinGen
Ensembl
rs1254409698
CA399147490
404 G>S No TOPMed
ClinGen
TCGA novel 405 L>F Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290079079
rs75119129
405 L>P No Ensembl
ClinGen
rs1555603592
CA399147474
406 P>L No ClinGen
gnomAD
CA399147466
rs1417760367
407 Q>H No ClinGen
TOPMed
gnomAD
CA399147452
rs756397870
410 R>G No ExAC
TOPMed
gnomAD
ClinGen
rs750478027
CA399147451
410 R>P No ExAC
TOPMed
gnomAD
ClinGen
CA290079072
rs750478027
410 R>Q No ClinGen
ExAC
TOPMed
gnomAD
CA290079073
rs756397870
410 R>W No ClinGen
ExAC
TOPMed
gnomAD
rs781304210
CA399147445
411 A>S No ClinGen
ExAC
TOPMed
gnomAD
CA290079071
rs781304210
411 A>T No ExAC
TOPMed
gnomAD
ClinGen
CA399147432
rs1555603564
412 G>E No ClinGen
gnomAD
CA399147426
rs1598415813
413 G>S No ClinGen
Ensembl
CA399147401
rs751609610
415 P>S No ClinGen
TOPMed
gnomAD
CA290079059
rs751609610
415 P>T No TOPMed
gnomAD
ClinGen
CA290079048
rs533824994
416 R>C No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA399147388
rs1312239488
416 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1555603534
CA399147379
417 H>R No gnomAD
ClinGen
CA399147364
rs1358187204
418 P>L No TOPMed
ClinGen
TCGA novel 418 P>S Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs200933511
CA399147345
419 D>E No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs758725453
CA290079023
420 A>T No ExAC
TOPMed
gnomAD
ClinGen
CA290079012
rs867571976
420 A>V No gnomAD
ClinGen
CA290079003
rs371940194
421 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
rs370737986
CA290078998
423 F>L No ESP
TOPMed
ClinGen
CA399147273
rs1257363015
425 P>L No TOPMed
ClinGen
CA399147279
rs1555603491
425 P>S Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No gnomAD
ClinGen
NCI-TCGA
rs764777782
CA290078996
426 P>S No ExAC
TOPMed
gnomAD
ClinGen
CA290078995
rs759293292
427 L>V No ClinGen
ExAC
TOPMed
gnomAD
rs367820262
CA290078994
428 R>C Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ESP
ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs765992640
CA290078993
428 R>H Variant assessed as Somatic; 6.025e-05 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA399147246
rs765992640
428 R>L No ExAC
gnomAD
ClinGen
rs367820262
CA399147253
428 R>S No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs760632184
CA290078984
429 R>C No ExAC
TOPMed
gnomAD
ClinGen
CA290078983
rs773304036
429 R>H No ClinGen
ExAC
TOPMed
gnomAD
CA399147238
rs773304036
429 R>L No ExAC
TOPMed
gnomAD
ClinGen
rs760632184
CA399147244
429 R>S No ExAC
TOPMed
gnomAD
ClinGen
rs964011123
CA290078977
430 L>R No TOPMed
gnomAD
ClinGen
rs1334347837
CA399147158
436 A>T No TOPMed
ClinGen
rs1381598439
CA399147142
437 R>C No TOPMed
gnomAD
ClinGen
CA399147140
rs774249689
437 R>H No ExAC
TOPMed
gnomAD
ClinGen
rs774249689
CA399147137
437 R>L No ExAC
TOPMed
gnomAD
ClinGen
CA290078953
rs774249689
437 R>P No ExAC
TOPMed
gnomAD
ClinGen
rs1381598439
CA399147146
437 R>S No TOPMed
gnomAD
ClinGen
CA399147105
rs769891235
440 V>L No ExAC
TOPMed
gnomAD
ClinGen
CA290078943
rs769891235
440 V>M No ExAC
TOPMed
gnomAD
ClinGen
TCGA novel 442 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs369027708
CA290078940
443 R>* No ClinGen
ExAC
TOPMed
gnomAD
CA290078941
rs369027708
443 R>G No ClinGen
ExAC
TOPMed
gnomAD
rs781178488
CA290078939
443 R>Q Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1598415137
CA399147064
444 G>E No ClinGen
Ensembl
TCGA novel 445 G>D Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399147059
rs1555603417
445 G>R No ClinGen
gnomAD
rs757338388
CA290078903
446 L>P No ExAC
gnomAD
ClinGen
CA290078880
rs901634099
447 Q>* No ClinGen
TOPMed
gnomAD
rs747477806
CA290078874
448 V>M No ExAC
gnomAD
ClinGen
CA290078864
rs778115477
449 E>D No ClinGen
ExAC
TOPMed
gnomAD
rs758996305
CA290078858
450 P>L No ExAC
gnomAD
ClinGen
rs754612478
CA290078852
453 P>L No ExAC
TOPMed
gnomAD
ClinGen
CA290078854
rs138254597
453 P>S No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
rs1555603380
CA919831620
453 P>S No ClinGen
Ensembl
CA399146976
rs138254597
453 P>T No 1000Genomes
ESP
ExAC
TOPMed
gnomAD
ClinGen
CA290078850
rs765937653
454 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
rs760292726
CA290078844
454 R>Q No ExAC
TOPMed
ClinGen
TCGA novel 457 Q>* Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 457 Q>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290078843
rs531295060
459 W>S No ClinGen
1000Genomes
ExAC
TOPMed
gnomAD
rs1302517657
CA399146929
460 G>R No ClinGen
TOPMed
gnomAD
TCGA novel 463 P>H Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA399146884
rs1555603361
463 P>L No gnomAD
ClinGen
CA399146867
rs1314466913
465 E>K Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs761866090
CA290078835
465 E>V No ExAC
gnomAD
ClinGen
TCGA novel 466 V>I Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
CA290078808
rs768499454
468 G>S No ClinGen
ExAC
gnomAD
CA290078784
rs776873799
469 A>D No ClinGen
ExAC
gnomAD
rs1555603342
CA399146830
469 A>P No gnomAD
ClinGen
rs1555603342
CA399146832
469 A>T No ClinGen
gnomAD
CA290078759
rs771185619
471 P>L No ExAC
TOPMed
gnomAD
ClinGen
rs777969136
CA290078751
472 R>K No ClinGen
ExAC
gnomAD
CA290078737
rs532783200
474 D>N No 1000Genomes
ExAC
TOPMed
gnomAD
ClinGen
CA290078727
rs753502013
475 G>A No ExAC
TOPMed
gnomAD
ClinGen
rs753502013
CA290078730
475 G>D No ClinGen
ExAC
TOPMed
gnomAD
CA399146765
rs1191857446
475 G>S No TOPMed
gnomAD
ClinGen
rs753502013
CA290078720
475 G>V No ExAC
TOPMed
gnomAD
ClinGen
rs1481393295
CA399146746
477 I>L No ClinGen
TOPMed
CA290078717
rs779820951
478 I>L No ExAC
TOPMed
gnomAD
ClinGen
CA290078718
rs779820951
478 I>V No ClinGen
ExAC
TOPMed
gnomAD
CA399146700
rs1428393563
481 R>* Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs1012437556
CA290078702
481 R>Q Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
NCI-TCGA
TOPMed
rs755879354
CA290078691
484 R>C No ClinGen
ExAC
TOPMed
gnomAD
CA290078685
rs1053381994
484 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No TOPMed
gnomAD
ClinGen
NCI-TCGA
rs1555603303
CA399146339
485 Y>H No ClinGen
gnomAD
CA290078673
rs767119397
486 W>C No ExAC
gnomAD
ClinGen
rs75045636
CA290078669
487 R>C No ClinGen
1000Genomes
ESP
ExAC
TOPMed
gnomAD
CA290078668
rs372991755
487 R>H Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ESP
ExAC
NCI-TCGA
TOPMed
gnomAD
CA399146320
rs372991755
487 R>L No ClinGen
ESP
ExAC
TOPMed
gnomAD
rs1283006246
CA399146315
488 L>P No ClinGen
TOPMed
rs775316487
CA290078649
489 D>G No ClinGen
ExAC
TOPMed
gnomAD
rs762709550
CA290078660
489 D>H No ClinGen
ExAC
TOPMed
gnomAD
rs762709550
CA399146312
489 D>Y Variant assessed as Somatic; impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
TOPMed
gnomAD
rs771132233
CA290078639
490 Q>R No ExAC
TOPMed
gnomAD
ClinGen
rs1555603259
CA399146295
491 A>V No gnomAD
ClinGen
rs1555603256
CA399146278
494 Q>P No gnomAD
ClinGen
TCGA novel 495 A>G Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
TCGA novel 495 A>V Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA
rs772206617
CA290078630
497 T>A No ClinGen
ExAC
gnomAD
rs779505830
CA290078614
498 S>L No ClinGen
ExAC
TOPMed
gnomAD
CA290078620
rs779505830
498 S>W No ExAC
TOPMed
gnomAD
ClinGen
rs375047060
CA290078548
500 R>C No ESP
ExAC
TOPMed
gnomAD
ClinGen
rs146307755
CA290078543
500 R>H No ClinGen
1000Genomes
TOPMed
gnomAD
rs146307755
CA399146244
500 R>L No ClinGen
1000Genomes
TOPMed
gnomAD
rs146307755
CA290078538
500 R>P No ClinGen
1000Genomes
TOPMed
gnomAD
CA290078530
rs750091428
502 A>G No ExAC
TOPMed
gnomAD
ClinGen
rs756809910
CA290078517
504 E>K Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ClinGen
ExAC
NCI-TCGA
gnomAD
CA290078505
rs371276704
506 P>S No Ensembl
ClinGen
CA399146184
rs1366940211
509 G>A No TOPMed
ClinGen
rs751074222
CA290078500
510 C>S No ExAC
gnomAD
ClinGen
CA399146168
rs1555603217
511 W>C No gnomAD
ClinGen
CA290078491
rs763999932
512 H>P No ClinGen
ExAC
gnomAD
rs762938904
CA290078475
513 A>T No ExAC
TOPMed
gnomAD
ClinGen
rs1555603204
CA399146147
514 N>K No ClinGen
gnomAD
CA290078471
rs760538429
515 S>* No ClinGen
ExAC
TOPMed
gnomAD
CA290078472
rs760538429
515 S>L No ExAC
TOPMed
gnomAD
ClinGen
CA399146143
rs760538429
515 S>W No ClinGen
ExAC
TOPMed
gnomAD
rs1555603195
CA399146126
518 A>D No gnomAD
ClinGen
rs540421800
CA290078463
518 A>T Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] No ExAC
TOPMed
gnomAD
ClinGen
NCI-TCGA
CA399146124
rs1555603195
518 A>V No ClinGen
gnomAD
rs1555603189
CA399146114
520 F>C No gnomAD
ClinGen
TCGA novel 521 F>R Variant assessed as Somatic; impact. [NCI-TCGA] No NCI-TCGA

No associated diseases with Q9H239

9 regional properties for Q9H239

Type Name Position InterPro Accession
domain Hemopexin-like domain 321 - 510 IPR000585
domain Peptidase M10, metallopeptidase 129 - 284 IPR001818
domain Peptidoglycan binding-like 33 - 86 IPR002477
domain Peptidase, metallopeptidase 126 - 285 IPR006026
repeat Hemopexin-like repeats 325 - 371 IPR018487-1
repeat Hemopexin-like repeats 370 - 416 IPR018487-2
repeat Hemopexin-like repeats 415 - 464 IPR018487-3
repeat Hemopexin-like repeats 466 - 510 IPR018487-4
domain Peptidase M10A, catalytic domain 129 - 284 IPR033739

Functions

Description
EC Number
Subcellular Localization
  • Secreted, extracellular space, extracellular matrix
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category No pathway information available

4 GO annotations of cellular component

Name Definition
collagen-containing extracellular matrix An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells.
cytoplasm The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
extracellular matrix A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues.
extracellular space That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid.

2 GO annotations of molecular function

Name Definition
metalloendopeptidase activity Catalysis of the hydrolysis of internal, alpha-peptide bonds in a polypeptide chain by a mechanism in which water acts as a nucleophile, one or two metal ions hold the water molecule in place, and charged amino acid side chains are ligands for the metal ions.
zinc ion binding Binding to a zinc ion (Zn).

4 GO annotations of biological process

Name Definition
collagen catabolic process The proteolytic chemical reactions and pathways resulting in the breakdown of collagen in the extracellular matrix, usually carried out by proteases secreted by nearby cells.
extracellular matrix organization A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of an extracellular matrix.
negative regulation of macrophage chemotaxis Any process that decreases the rate, frequency or extent of macrophage chemotaxis. Macrophage chemotaxis is the movement of a macrophage in response to an external stimulus.
proteolysis The hydrolysis of proteins into smaller polypeptides and/or amino acids by cleavage of their peptide bonds.

17 homologous proteins in AiPD

UniProt AC Gene Name Protein Name Species Evidence Code
Q3SZV7 HPX Hemopexin Bos taurus (Bovine) PR
O77656 MMP13 Collagenase 3 Bos taurus (Bovine) PR
Q9GLE5 MMP2 72 kDa type IV collagenase Bos taurus (Bovine) PR
Q90611 MMP2 72 kDa type IV collagenase Gallus gallus (Chicken) PR
Q8MPP3 Mmp2 Matrix metalloproteinase-2 Drosophila melanogaster (Fruit fly) PR
P04004 VTN Vitronectin Homo sapiens (Human) PR
Q99542 MMP19 Matrix metalloproteinase-19 Homo sapiens (Human) PR
Q9NPA2 MMP25 Matrix metalloproteinase-25 Homo sapiens (Human) PR
P45452 MMP13 Collagenase 3 Homo sapiens (Human) PR
P34960 Mmp12 Macrophage metalloelastase Mus musculus (Mouse) PR
P33435 Mmp13 Collagenase 3 Mus musculus (Mouse) PR
P33434 Mmp2 72 kDa type IV collagenase Mus musculus (Mouse) PR
P28862 Mmp3 Stromelysin-1 Mus musculus (Mouse) PR
P23097 Mmp13 Collagenase 3 Rattus norvegicus (Rat) PR
Q63341 Mmp12 Macrophage metalloelastase Rattus norvegicus (Rat) PR
P33436 Mmp2 72 kDa type IV collagenase Rattus norvegicus (Rat) PR
Q6PHG2 hpx Hemopexin Danio rerio (Zebrafish) (Brachydanio rerio) PR
10 20 30 40 50 60
MVARVGLLLR ALQLLLWGHL DAQPAERGGQ ELRKEAEAFL EKYGYLNEQV PKAPTSTRFS
70 80 90 100 110 120
DAIRAFQWVS QLPVSGVLDR ATLRQMTRPR CGVTDTNSYA AWAERISDLF ARHRTKMRRK
130 140 150 160 170 180
KRFAKQGNKW YKQHLSYRLV NWPEHLPEPA VRGAVRAAFQ LWSNVSALEF WEAPATGPAD
190 200 210 220 230 240
IRLTFFQGDH NDGLGNAFDG PGGALAHAFL PRRGEAHFDQ DERWSLSRRR GRNLFVVLAH
250 260 270 280 290 300
EIGHTLGLTH SPAPRALMAP YYKRLGRDAL LSWDDVLAVQ SLYGKPLGGS VAVQLPGKLF
310 320 330 340 350 360
TDFETWDSYS PQGRRPETQG PKYCHSSFDA ITVDRQQQLY IFKGSHFWEV AADGNVSEPR
370 380 390 400 410 420
PLQERWVGLP PNIEAAAVSL NDGDFYFFKG GRCWRFRGPK PVWGLPQLCR AGGLPRHPDA
430 440 450 460 470 480
ALFFPPLRRL ILFKGARYYV LARGGLQVEP YYPRSLQDWG GIPEEVSGAL PRPDGSIIFF
490 500 510
RDDRYWRLDQ AKLQATTSGR WATELPWMGC WHANSGSALF