Q9H4H8
Gene name |
FAM83D |
Protein name |
Protein FAM83D |
Names |
Spindle protein CHICA |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:81610 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
3 structures for Q9H4H8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5E0L | X-ray | 131 A | C | 384-394 | PDB |
| 5E0M | X-ray | 165 A | C | 436-446 | PDB |
| AF-Q9H4H8-F1 | Predicted | AlphaFoldDB |
501 variants for Q9H4H8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs919462045 CA408912841 |
2 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs760027242 CA9856495 |
2 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs919462045 CA314469808 |
2 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs573681061 CA9856496 |
3 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9856498 rs375053183 |
3 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9856497 rs375053183 |
3 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408912861 rs1334769429 |
4 | L>P | No |
ClinGen TOPMed |
|
| TCGA novel | 4 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9856502 rs766046202 |
5 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766046202 CA9856504 |
5 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9856503 rs766046202 |
5 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279232145 CA408912867 |
6 | E>Q | No |
ClinGen TOPMed |
|
|
rs748094923 CA9856506 |
7 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs1255924956 CA408912876 |
7 | G>D | No |
ClinGen gnomAD |
|
|
CA408912875 rs748094923 |
7 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408912882 rs1165860775 |
8 | L>P | No |
ClinGen gnomAD |
|
|
rs749400749 CA9856509 |
9 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777529947 CA9856508 |
9 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408912885 rs1439723681 |
9 | D>H | No |
ClinGen TOPMed |
|
|
rs771111401 CA9856510 |
10 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771111401 CA408912890 |
10 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9856511 rs3752290 |
11 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs746079486 CA314469938 |
12 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9856512 rs746079486 |
12 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408912903 rs1301838453 |
12 | P>S | No |
ClinGen gnomAD |
|
|
rs1402665677 CA408912919 |
15 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1402665677 CA408912918 |
15 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1315447479 CA408912921 |
15 | C>Y | No |
ClinGen gnomAD |
|
|
rs772376318 CA9856513 |
16 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248747727 CA408912935 |
17 | S>L | No |
ClinGen TOPMed |
|
| TCGA novel | 18 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1309276538 CA408912955 |
20 | G>V | No |
ClinGen gnomAD |
|
|
rs199696070 CA408912977 |
24 | P>A | No |
ClinGen 1000Genomes TOPMed |
|
|
CA9856518 rs776957965 |
24 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs199696070 CA314470036 |
24 | P>S | No |
ClinGen 1000Genomes TOPMed |
|
|
rs199696070 CA408912976 |
24 | P>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1222350179 CA408912984 |
25 | T>S | No |
ClinGen TOPMed |
|
|
rs762502120 CA9856519 |
26 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA408912993 rs1244090438 |
27 | L>V | No |
ClinGen gnomAD |
|
|
CA408913027 rs1347405241 |
31 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1439926844 CA408913028 |
32 | R>G | No |
ClinGen TOPMed |
|
|
rs1449422656 CA408913030 |
32 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA408913036 rs765847709 |
33 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs765847709 CA9856520 |
33 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1187172593 CA408913034 |
33 | R>S | No |
ClinGen gnomAD |
|
|
rs527698652 CA9856521 |
35 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9856523 rs754613428 |
37 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408913053 rs1230153675 |
37 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA408913062 rs1337183402 |
38 | E>K | No |
ClinGen gnomAD |
|
|
rs1364134308 CA408913073 |
40 | V>M | No |
ClinGen gnomAD |
|
|
CA408913082 rs1156314777 |
41 | A>E | No |
ClinGen TOPMed |
|
|
CA408913085 rs1415761291 |
42 | G>S | No |
ClinGen TOPMed |
|
|
CA314470109 rs936080000 |
43 | G>S | No |
ClinGen gnomAD |
|
|
CA408913102 rs1300648261 |
45 | E>K | No |
ClinGen gnomAD |
|
|
rs1054546893 CA314470116 |
46 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs752565827 CA9856525 |
46 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA314470134 rs559144194 |
48 | A>V | No |
ClinGen Ensembl |
|
|
rs866860978 CA314470141 |
49 | A>P | No |
ClinGen Ensembl |
|
|
rs866860978 CA314470139 |
49 | A>T | No |
ClinGen Ensembl |
|
|
rs755815110 CA9856526 |
49 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408913147 rs1190170752 |
52 | R>L | No |
ClinGen gnomAD |
|
|
rs1422397878 CA408913148 |
53 | R>C | No |
ClinGen gnomAD |
|
|
rs1481226968 CA408913152 |
53 | R>P | No |
ClinGen gnomAD |
|
|
rs749206418 CA9856530 |
54 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs757475574 CA9856532 |
55 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757475574 CA9856531 |
55 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9856533 rs745883040 |
55 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs547544811 CA408913176 |
58 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs547544811 CA9856534 |
58 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1233258710 CA408913210 |
61 | N>K | No |
ClinGen TOPMed |
|
|
rs747426389 CA9856536 |
63 | D>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 64 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9856538 rs777166362 |
66 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567727695 CA9856537 |
66 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs778401144 CA314470247 |
67 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA408913370 rs1286558295 |
68 | I>L | No |
ClinGen TOPMed |
|
|
CA314470264 rs952249518 |
69 | L>P | No |
ClinGen Ensembl |
|
|
CA9856540 rs765932046 |
69 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA408913447 rs1199509121 |
70 | R>H | No |
ClinGen gnomAD |
|
|
rs987126176 CA314470280 |
72 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs987126176 CA314470284 |
72 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9856542 rs758906450 |
75 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9856544 rs752268662 |
76 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA9856543 CA408913611 rs767219479 |
76 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314470319 rs973345415 |
78 | E>D | No |
ClinGen TOPMed |
|
|
CA314470309 rs984244548 |
78 | E>G | No |
ClinGen gnomAD |
|
|
rs961782687 CA314470304 |
78 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs760558087 CA9856545 |
79 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1281664891 CA408913742 |
80 | A>T | No |
ClinGen gnomAD |
|
|
CA408913826 rs1351779325 |
82 | A>V | No |
ClinGen gnomAD |
|
|
rs1288435006 CA408913880 |
84 | A>V | No |
ClinGen gnomAD |
|
|
CA408913895 rs1222652745 |
85 | A>E | No |
ClinGen gnomAD |
|
|
CA408913894 rs1222652745 |
85 | A>V | No |
ClinGen gnomAD |
|
|
CA408913925 rs1481884477 |
86 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA408913956 rs1306806129 |
87 | E>* | No |
ClinGen TOPMed |
|
|
rs1306806129 CA408913952 |
87 | E>K | No |
ClinGen TOPMed |
|
|
CA408914004 rs1601328139 |
88 | D>E | No |
ClinGen Ensembl |
|
|
rs1016695822 CA314470387 |
88 | D>N | No |
ClinGen gnomAD |
|
|
rs958335069 CA408914050 CA314470412 |
90 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1233253249 CA408914102 |
92 | S>F | No |
ClinGen gnomAD |
|
|
CA314470420 rs991134921 |
92 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs778924114 CA9856553 |
94 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA9856555 rs79799203 |
94 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs79799203 CA9856554 |
94 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1426236176 CA408914177 |
95 | D>N | No |
ClinGen gnomAD |
|
|
CA9856556 rs780376110 |
97 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA408914290 rs1300215724 |
98 | S>* | No |
ClinGen TOPMed |
|
|
rs1372038562 CA408914285 |
98 | S>A | No |
ClinGen TOPMed |
|
|
rs1462844923 CA408914302 |
99 | G>C | No |
ClinGen TOPMed |
|
|
CA314470467 rs977373364 |
99 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs781523150 CA9856559 |
101 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769135403 CA9856558 |
101 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA408914370 rs1474318964 |
102 | F>I | No |
ClinGen TOPMed |
|
|
CA314470475 rs748454763 |
102 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9856561 rs772056084 |
103 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA408914418 rs865940305 |
105 | Q>* | No |
ClinGen gnomAD |
|
|
CA314470486 rs865940305 |
105 | Q>K | No |
ClinGen gnomAD |
|
|
rs924398974 CA314470487 |
106 | S>L | No |
ClinGen Ensembl |
|
|
rs935423801 CA314470492 |
107 | D>Y | No |
ClinGen TOPMed |
|
|
CA314470499 rs539294723 |
108 | L>M | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA9856562 rs773112798 |
110 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408914494 rs1197184149 |
110 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA408914496 rs1197184149 |
110 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs867922455 CA314470514 |
112 | L>M | No |
ClinGen gnomAD |
|
|
CA9856563 rs759133538 |
116 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA408914568 rs759133538 |
116 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA408914565 rs1445189927 |
116 | G>R | No |
ClinGen gnomAD |
|
|
rs1460592108 CA408914591 |
117 | W>* | No |
ClinGen gnomAD |
|
|
rs1169714177 CA408914614 |
119 | A>T | No |
ClinGen gnomAD |
|
|
CA408914644 rs1351908107 |
122 | Q>* | No |
ClinGen TOPMed |
|
|
rs760227820 CA9856566 |
122 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA9856565 rs775279847 |
122 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs1408690577 CA408914652 |
123 | G>D | No |
ClinGen gnomAD |
|
|
CA314470570 rs559304277 |
124 | A>T | No |
ClinGen 1000Genomes |
|
|
rs1453996734 CA408914659 |
124 | A>V | No |
ClinGen gnomAD |
|
|
CA408914664 rs1297422667 |
125 | Y>C | No |
ClinGen gnomAD |
|
|
CA408914677 rs1325193628 |
127 | G>D | No |
ClinGen gnomAD |
|
|
CA408914697 rs1568693901 |
130 | R>L | No |
ClinGen Ensembl |
|
|
rs1010808253 CA314470581 |
131 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1376816971 CA408914716 |
133 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs61753646 CA408914720 |
134 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61753646 CA9856568 |
134 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296956604 CA408914729 |
135 | F>L | No |
ClinGen TOPMed |
|
|
rs943488421 CA314470596 |
135 | F>L | No |
ClinGen Ensembl |
|
|
rs1207875776 CA408914747 |
138 | R>C | No |
ClinGen gnomAD |
|
|
CA408914748 rs1246181407 |
138 | R>H | No |
ClinGen gnomAD |
|
|
rs1195475280 CA408914766 |
141 | G>D | No |
ClinGen gnomAD |
|
|
CA408914794 rs1477833630 |
145 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1477833630 CA408914793 |
145 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA408914806 rs1278843289 |
147 | G>D | No |
ClinGen gnomAD |
|
|
CA314470606 rs889009859 |
148 | C>F | No |
ClinGen TOPMed |
|
|
CA314470602 rs1028879811 |
148 | C>S | No |
ClinGen TOPMed |
|
|
CA314470614 rs1040344890 |
149 | K>Q | No |
ClinGen TOPMed |
|
|
CA408914828 rs1408759659 |
150 | D>E | No |
ClinGen gnomAD |
|
|
rs1319722900 CA408914827 |
150 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs577533730 CA9856569 |
151 | A>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1555811503 CA408914850 |
154 | Q>R | No |
ClinGen Ensembl |
|
|
CA408914860 rs1320289294 CA408914861 |
155 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA408914869 rs765290550 |
157 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs901891033 CA314470630 |
157 | R>P | No |
ClinGen gnomAD |
|
|
CA9856570 rs765290550 |
157 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1568693955 CA408914875 |
158 | S>* | No |
ClinGen Ensembl |
|
|
rs993672151 CA408914887 |
160 | R>L | No |
ClinGen TOPMed |
|
|
CA314470635 rs993672151 |
160 | R>P | No |
ClinGen TOPMed |
|
|
CA408914895 rs1252333030 |
161 | E>D | No |
ClinGen TOPMed |
|
|
rs746458768 CA9856583 |
163 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1002414303 CA314482053 |
164 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs768451910 CA9856584 |
165 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA314482069 rs1034273002 |
167 | M>K | No |
ClinGen TOPMed gnomAD |
|
|
CA408917219 rs1034273002 |
167 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs201598979 CA9856585 |
168 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA314482116 rs948312518 |
169 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1423259480 CA408917261 |
173 | I>T | No |
ClinGen gnomAD |
|
|
CA408917266 rs1428715454 |
174 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA408917267 rs1428715454 |
174 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9856587 rs371171699 |
174 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA314482145 rs992431883 |
176 | F>L | No |
ClinGen TOPMed |
|
|
CA314482171 rs1045179335 |
178 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 181 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs906729532 CA314482183 |
182 | I>M | No |
ClinGen Ensembl |
|
|
CA408917324 rs1380543789 |
182 | I>T | No |
ClinGen gnomAD |
|
|
CA9856590 rs766283187 |
183 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs751595938 CA9856591 |
184 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314482251 rs891576585 |
185 | K>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 187 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408917362 rs1249893148 |
188 | V>A | No |
ClinGen gnomAD |
|
|
rs374313497 CA9856592 |
188 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374313497 CA314482269 |
188 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767751821 CA9856593 |
190 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs1481728939 CA408917371 |
190 | V>L | No |
ClinGen gnomAD |
|
|
CA408917389 rs1242879856 |
192 | I>M | No |
ClinGen gnomAD |
|
|
CA408917387 rs1372332150 |
192 | I>T | No |
ClinGen TOPMed |
|
|
rs267605929 CA314482298 |
193 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA408917424 rs1443354021 |
198 | L>F | No |
ClinGen gnomAD |
|
|
rs752882835 CA9856594 |
201 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs752882835 CA9856595 |
201 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA408917455 rs3752293 |
203 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408917481 rs1167683599 |
206 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1167683599 CA408917479 |
206 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA408917489 rs1462149206 |
207 | M>I | No |
ClinGen gnomAD |
|
|
rs538971083 CA408917485 |
207 | M>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408917488 rs1321397848 |
207 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs538971083 CA9856597 |
207 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408917492 rs1302077496 |
208 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA408917500 rs1403568531 |
209 | L>M | No |
ClinGen gnomAD |
|
|
rs965149440 CA314482315 |
211 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs925431512 CA314482313 |
211 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA408917532 rs1364357726 |
214 | E>K | No |
ClinGen gnomAD |
|
|
CA408917539 rs558982301 |
215 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs558982301 CA9856598 |
215 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1433751691 CA408917552 |
216 | E>D | No |
ClinGen TOPMed |
|
|
CA9856626 rs749062292 |
222 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777444883 CA9856625 |
222 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs774220063 CA9856628 |
223 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 224 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1455596046 CA408917628 |
226 | G>A | No |
ClinGen TOPMed |
|
|
CA408917635 rs1601337532 |
227 | N>S | No |
ClinGen Ensembl |
|
|
rs771935442 CA9856630 |
228 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs374359207 CA9856631 |
229 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1431418040 CA408917659 |
231 | A>T | No |
ClinGen TOPMed |
|
|
CA9856632 rs760704870 |
232 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA314486331 rs962583234 |
233 | S>* | No |
ClinGen Ensembl |
|
|
CA9856634 rs368793717 |
234 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9856633 rs368793717 |
234 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762126557 CA9856635 |
236 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs527973542 CA9856636 |
238 | I>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9856637 rs751029653 |
242 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA408917737 rs1447178773 |
243 | E>G | No |
ClinGen TOPMed |
|
|
CA408917734 rs1490745557 |
243 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408917747 rs758987453 |
244 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA9856639 rs780645103 |
246 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9856643 rs372421589 |
248 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 251 | I>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1029949648 CA314486407 |
251 | I>S | No |
ClinGen TOPMed |
|
|
CA9856644 rs375840960 |
252 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9856645 rs778778409 |
252 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9856647 rs772029367 |
253 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408917811 rs1408012325 |
255 | T>A | No |
ClinGen TOPMed |
|
|
CA9856649 rs567972680 |
255 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768748837 CA9856650 |
256 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs776787816 CA9856651 |
257 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1245818663 CA408917838 |
259 | S>I | No |
ClinGen gnomAD |
|
|
CA9856664 rs758166466 |
260 | F>C | No |
ClinGen ExAC gnomAD |
|
|
rs376744439 CA408917878 |
263 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9856665 rs376744439 |
263 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs768677835 CA9856667 |
264 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs776786837 CA9856668 |
265 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA9856669 rs748109756 |
265 | G>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9856670 rs748109756 |
265 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408917920 rs1201532895 |
269 | S>R | No |
ClinGen gnomAD |
|
|
CA408917924 rs1244954323 |
270 | S>N | No |
ClinGen gnomAD |
|
|
CA408917936 rs1461687642 |
271 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA408917976 rs1378553712 |
278 | Q>* | No |
ClinGen gnomAD |
|
|
rs199980392 CA9856671 |
279 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA408917983 rs199980392 |
279 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1439235343 CA408917991 |
280 | V>A | No |
ClinGen gnomAD |
|
|
CA408917987 rs1186668915 |
280 | V>I | No |
ClinGen TOPMed |
|
|
CA9856672 rs763463175 |
281 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1372526019 CA408917993 |
281 | E>K | No |
ClinGen gnomAD |
|
|
CA408918000 rs1169801654 |
282 | H>D | No |
ClinGen gnomAD |
|
|
CA9856673 rs766822413 |
283 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189546016 CA408918030 |
286 | E>K | No |
ClinGen TOPMed |
|
|
CA9856674 rs775053614 |
287 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9856675 rs200522936 |
288 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408918043 rs200522936 |
288 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA408918044 rs1397085238 |
288 | R>Q | No |
ClinGen gnomAD |
|
|
rs1317052090 CA408918060 |
291 | Y>D | No |
ClinGen gnomAD |
|
|
rs1324114971 CA408918079 |
293 | Q>H | No |
ClinGen gnomAD |
|
|
rs767841864 CA9856676 |
294 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA408918084 rs1278519821 |
294 | S>F | No |
ClinGen gnomAD |
|
|
CA9856679 rs756673775 |
298 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA408918119 rs1204418131 |
299 | P>L | No |
ClinGen gnomAD |
|
|
rs1261131990 CA408918124 |
300 | K>R | No |
ClinGen gnomAD |
|
|
rs750044937 CA9856681 |
304 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9856680 rs78927920 |
304 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1311023945 CA408918166 |
306 | Q>H | No |
ClinGen TOPMed |
|
|
CA314489028 rs1012920488 |
309 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1174770476 CA408918209 |
312 | D>G | No |
ClinGen gnomAD |
|
|
CA408918223 rs1333035728 |
314 | L>V | No |
ClinGen gnomAD |
|
|
rs758254488 CA9856682 |
315 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779813959 CA9856683 |
316 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs911477186 CA314489029 |
317 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA9856684 rs746725808 |
317 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs140916362 CA9856686 |
319 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA408918283 rs1344508981 |
323 | E>D | No |
ClinGen gnomAD |
|
|
rs545972893 CA9856688 |
323 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769975905 CA9856689 |
325 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA9856691 rs73908214 |
327 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 328 | N>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771217423 CA408918321 |
330 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA9856692 rs771217423 |
330 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA314489136 rs373299326 |
331 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9856695 rs373299326 |
331 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs541787327 CA9856694 |
331 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775838541 CA9856696 |
332 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs370045194 CA408918334 |
333 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370045194 CA9856698 |
333 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs61752513 CA9856697 |
333 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1181697534 CA408918339 |
334 | L>R | No |
ClinGen TOPMed |
|
|
CA9856700 rs758062346 |
335 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs779480469 CA9856699 |
335 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs751402625 CA9856702 |
336 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA314489185 rs6101353 |
336 | R>K | No |
ClinGen Ensembl |
|
|
rs754683845 CA9856703 |
339 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781243496 CA9856704 |
339 | S>N | No |
ClinGen ExAC |
|
|
rs752548661 CA9856705 |
340 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs778010697 CA9856707 |
343 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9856708 rs749312316 |
344 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1394087392 CA408918408 |
346 | L>P | No |
ClinGen TOPMed |
|
|
rs1220346638 CA408918416 |
347 | D>E | No |
ClinGen gnomAD |
|
|
rs778949689 CA9856711 |
347 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA408918420 rs746291763 |
348 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746291763 CA9856712 |
348 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA314489259 rs966553585 |
349 | E>G | No |
ClinGen Ensembl |
|
|
CA408918436 rs776130144 CA9856714 |
350 | M>I | No |
ClinGen ExAC TOPMed |
|
|
CA408918431 rs1488917109 |
350 | M>V | No |
ClinGen gnomAD |
|
|
rs749230212 CA9856716 |
352 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179734806 CA408918454 |
353 | E>D | No |
ClinGen gnomAD |
|
|
CA9856719 rs762409981 |
355 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199850639 CA9856720 |
358 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9856721 rs562038092 |
358 | R>H | Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1350148368 CA408918488 |
359 | K>E | No |
ClinGen gnomAD |
|
|
rs759420092 CA9856722 |
359 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1178118286 CA408918498 |
360 | P>R | No |
ClinGen TOPMed |
|
|
CA9856723 rs767214100 |
361 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9856724 rs752741335 |
362 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408918511 rs752741335 |
362 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1215699407 CA744214480 |
363 | C>* | No |
ClinGen TOPMed |
|
|
CA408918515 rs1447434744 |
363 | C>R | No |
ClinGen gnomAD |
|
|
CA9856726 rs777810924 |
364 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9856725 rs756121830 |
364 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA408918531 rs1243934430 |
365 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 366 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA408918535 rs1568701173 |
366 | S>P | No |
ClinGen Ensembl |
|
|
CA9856727 rs753984738 |
367 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1226896977 CA408918547 |
368 | V>I | No |
ClinGen gnomAD |
|
|
rs757386049 CA9856728 |
369 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA408918578 rs1242833245 |
372 | D>G | No |
ClinGen TOPMed |
|
|
rs371208396 CA9856730 |
373 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9856729 rs368502958 |
373 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772543363 CA9856731 |
375 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA9856732 rs780297850 |
376 | S>N | No |
ClinGen ExAC |
|
|
CA9856733 rs747309460 |
377 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1183124653 CA408918619 |
378 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA408918626 rs1239149664 |
379 | D>Y | No |
ClinGen TOPMed |
|
|
rs530780605 CA9856736 |
380 | E>A | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs777074351 CA9856735 |
380 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408918635 rs530780605 |
380 | E>V | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA9856737 rs770321143 |
385 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs976869596 CA314489334 |
387 | I>T | No |
ClinGen Ensembl |
|
| TCGA novel | 388 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759101054 CA9856739 |
389 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291451338 CA408918704 |
390 | A>V | No |
ClinGen TOPMed |
|
|
CA408918706 rs1601339828 |
391 | T>A | No |
ClinGen Ensembl |
|
|
rs1175419501 CA408918712 |
392 | Q>E | No |
ClinGen gnomAD |
|
|
CA408918737 rs1403869128 |
395 | P>R | No |
ClinGen gnomAD |
|
|
rs1455066828 CA408918735 |
395 | P>S | No |
ClinGen TOPMed |
|
|
rs374443421 CA9856740 |
396 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768578741 CA9856741 |
397 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201866364 CA9856742 |
399 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9856743 rs778632522 |
401 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs753794218 CA9856744 |
402 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs753794218 CA9856745 |
402 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1446468504 CA408918782 |
403 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs200081428 CA9856746 |
404 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs192801255 CA9856747 |
405 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758554692 CA9856748 |
406 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA9856750 rs747397332 |
410 | Q>* | No |
ClinGen ExAC TOPMed |
|
|
CA9856751 rs755313994 |
413 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA9856753 rs748654779 |
415 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 417 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9856754 rs770534536 |
417 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs566985764 CA9856756 |
418 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9856755 rs546782440 |
418 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs566985764 CA408918880 |
418 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9856757 rs771643589 |
420 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs41276984 CA9856759 |
422 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs567406764 CA314489434 |
423 | A>T | No |
ClinGen Ensembl |
|
|
rs763976204 CA9856760 |
425 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1453203547 CA408918927 |
426 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 427 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9856763 rs765157006 |
428 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs761668428 CA9856762 |
428 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1283061930 CA408918969 |
433 | T>S | No |
ClinGen gnomAD |
|
|
CA9856764 rs750502040 |
434 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1305574461 CA408918992 |
436 | W>* | No |
ClinGen TOPMed |
|
|
rs1280025879 CA408918991 |
436 | W>L | No |
ClinGen gnomAD |
|
|
CA9856766 rs199973358 |
437 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9856767 rs376648441 |
439 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9856769 rs781525198 |
441 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA408919036 rs1201056135 |
443 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 445 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9856770 rs748456811 |
446 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1383409590 CA408919055 |
446 | M>T | No |
ClinGen TOPMed |
|
|
CA408919081 rs1601339989 |
449 | N>K | No |
ClinGen Ensembl |
|
|
CA9856771 rs756607176 |
451 | L>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 453 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1191531835 CA408919104 |
453 | P>S | No |
ClinGen gnomAD |
|
|
CA408919105 rs1191531835 |
453 | P>T | No |
ClinGen gnomAD |
|
|
CA9856772 rs778291789 |
454 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA314489487 rs776947128 |
454 | R>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 455 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs367934079 CA314489508 |
456 | T>N | No |
ClinGen ESP |
|
|
rs745414653 CA9856773 |
459 | T>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs201971456 CA9856774 |
460 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA408919147 rs1258362960 |
460 | E>G | No |
ClinGen gnomAD |
|
|
CA408919160 rs1348347927 |
462 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1373291352 CA408919186 |
466 | K>N | No |
ClinGen gnomAD |
|
|
rs776570461 CA9856778 |
467 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408919188 rs1601340040 |
467 | M>V | No |
ClinGen Ensembl |
|
|
CA9856779 rs761631041 |
469 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA408919201 rs1310817461 |
469 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 470 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773179759 CA9856781 |
470 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9856780 rs765111637 |
470 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs762983509 CA9856782 |
471 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs766445577 CA9856783 |
471 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1180361792 CA408919246 |
476 | K>R | No |
ClinGen gnomAD |
|
|
rs1478009725 CA408919266 |
479 | S>F | No |
ClinGen gnomAD |
|
|
CA314489605 rs999770233 |
481 | V>M | No |
ClinGen Ensembl |
|
|
rs1032425418 CA314489613 |
487 | V>L | No |
ClinGen gnomAD |
|
|
CA408919334 rs1407254207 |
490 | S>F | No |
ClinGen gnomAD |
|
|
CA408919339 rs1354254407 |
491 | T>S | No |
ClinGen gnomAD |
|
|
CA408919344 rs1334017436 |
492 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA408919343 rs1334017436 |
492 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs376148134 CA9856788 |
493 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408919355 rs1430318890 |
494 | P>A | No |
ClinGen TOPMed |
|
|
rs537005574 CA9856789 |
494 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1228476953 CA408919360 |
495 | A>D | No |
ClinGen gnomAD |
|
|
rs757902095 CA9856791 |
495 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779722508 CA9856792 |
498 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA408919396 rs1435933618 |
501 | D>Y | No |
ClinGen gnomAD |
|
|
CA9856793 rs746452559 |
503 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA408919414 rs1461185569 |
503 | H>R | No |
ClinGen gnomAD |
|
|
CA9856794 rs768455978 |
504 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA9856795 rs780943569 |
504 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408919439 rs1183098828 |
507 | Y>C | No |
ClinGen gnomAD |
|
|
CA9856796 rs747944214 |
508 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1473906422 CA408919446 |
508 | P>R | No |
ClinGen gnomAD |
|
|
CA408919465 rs1211293130 |
511 | L>V | No |
ClinGen TOPMed |
|
|
CA314489659 rs759786387 |
513 | T>I | No |
ClinGen gnomAD |
|
|
CA9856799 rs773093502 |
514 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408919481 rs1401698650 |
514 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs182339227 CA9856802 |
515 | H>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs182339227 CA9856803 |
515 | H>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA314489722 rs985755742 |
515 | H>P | No |
ClinGen TOPMed |
|
| rs754952124 | 515 | H>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs182339227 CA9856801 |
515 | H>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9856805 rs201963971 |
520 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408919539 rs1322759443 |
523 | S>P | No |
ClinGen gnomAD |
|
|
CA408919546 rs1424361932 |
524 | L>H | No |
ClinGen TOPMed |
|
| TCGA novel | 529 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779521830 CA9856810 |
531 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs147472094 CA9856809 |
531 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 532 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326013859 CA408919604 |
532 | Q>H | No |
ClinGen gnomAD |
|
|
CA9856812 rs754514865 |
534 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA9856815 rs769538321 |
536 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs780749747 CA314489827 |
536 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780749747 CA9856813 |
536 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780749747 CA9856814 |
536 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1414594815 CA408919634 |
537 | G>D | No |
ClinGen gnomAD |
|
|
rs1414594815 CA408919636 |
537 | G>V | No |
ClinGen gnomAD |
|
|
rs748972472 CA9856817 |
540 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9856819 rs774247066 |
541 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770889253 CA9856818 |
541 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA408919666 rs1339512790 |
543 | N>D | No |
ClinGen TOPMed |
|
|
CA9856820 rs759648081 |
543 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9856822 rs775629956 |
544 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA9856823 rs760963857 |
545 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200372016 CA314489851 |
545 | M>R | No |
ClinGen Ensembl |
|
|
rs764153219 CA9856824 |
547 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1293460868 CA408919698 |
548 | M>V | No |
ClinGen TOPMed |
|
|
CA408919715 rs1201137642 |
550 | S>* | No |
ClinGen gnomAD |
|
|
rs1218982714 CA408919751 |
556 | T>A | No |
ClinGen gnomAD |
|
|
CA314489868 rs372480989 |
556 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372480989 CA9856828 |
556 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408919763 rs1480349088 |
558 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9856829 rs750930999 |
558 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA408919778 rs1379926193 |
560 | L>F | No |
ClinGen gnomAD |
|
|
rs866609670 CA314489885 |
565 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs866609670 CA314489874 |
565 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA408919812 rs866609670 |
565 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA408919840 rs1183697186 |
569 | R>T | No |
ClinGen TOPMed |
|
|
rs375799756 CA9856831 |
571 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408919863 rs1298505028 |
572 | L>F | No |
ClinGen gnomAD |
|
|
rs755800087 CA9856833 |
573 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1237493959 CA408919866 |
573 | L>R | No |
ClinGen TOPMed |
|
|
CA408919871 rs1384900051 |
574 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA314489901 rs139998796 |
575 | V>I | No |
ClinGen 1000Genomes ESP |
|
|
CA9856834 rs201035320 |
577 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201035320 CA408919888 |
577 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA314489914 rs891888204 |
578 | V>E | No |
ClinGen TOPMed |
|
|
CA9856836 rs757009985 |
578 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1351682295 CA408919906 |
580 | L>P | No |
ClinGen gnomAD |
|
|
CA9856837 rs778885796 |
580 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs377190131 CA9856838 |
581 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA408919918 rs1241618975 |
582 | P>S | No |
ClinGen TOPMed |
|
|
CA9856839 rs771937592 |
583 | S>F | No |
ClinGen ExAC TOPMed |
|
|
rs775641854 CA9856840 |
584 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA314489926 rs1006839064 |
586 | Q>L | No |
ClinGen TOPMed |
1 associated diseases with Q9H4H8
Without disease ID
1 regional properties for Q9H4H8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | FAM83, N-terminal | 19 - 296 | IPR012461 |
Functions
7 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasm | The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| intercellular bridge | A direct connection between the cytoplasm of two cells that is formed following the completion of cleavage furrow ingression during cell division. They are usually present only briefly prior to completion of cytokinesis. However, in some cases, such as the bridges between germ cells during their development, they become stabilised. |
| microtubule cytoskeleton | The part of the cytoskeleton (the internal framework of a cell) composed of microtubules and associated proteins. |
| mitotic spindle | A spindle that forms as part of mitosis. Mitotic and meiotic spindles contain distinctive complements of proteins associated with microtubules. |
| mitotic spindle pole | Either of the ends of a mitotic spindle, a spindle that forms as part of mitosis, where spindle microtubules are organized; usually contains a microtubule organizing center and accessory molecules, spindle microtubules and astral microtubules. |
| spindle | The array of microtubules and associated molecules that forms between opposite poles of a eukaryotic cell during mitosis or meiosis and serves to move the duplicated chromosomes apart. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| kinesin binding | Interacting selectively and non-covalently and stoichiometrically with kinesin, a member of a superfamily of microtubule-based motor proteins that perform force-generating tasks such as organelle transport and chromosome segregation. |
| microtubule binding | Binding to a microtubule, a filament composed of tubulin monomers. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| cell division | The process resulting in division and partitioning of components of a cell to form more cells; may or may not be accompanied by the physical separation of a cell into distinct, individually membrane-bounded daughter cells. |
| cell migration | The controlled self-propelled movement of a cell from one site to a destination guided by molecular cues. Cell migration is a central process in the development and maintenance of multicellular organisms. |
| cell population proliferation | The multiplication or reproduction of cells, resulting in the expansion of a cell population. |
| epithelial to mesenchymal transition | A transition where an epithelial cell loses apical/basolateral polarity, severs intercellular adhesive junctions, degrades basement membrane components and becomes a migratory mesenchymal cell. |
| metaphase plate congression | The alignment of chromosomes at the metaphase plate (spindle equator), a plane halfway between the poles of the spindle. |
| positive regulation of cell cycle G1/S phase transition | Any signalling pathway that activates or increases the activity of a cell cycle cyclin-dependent protein kinase to modulate the switch from G1 phase to S phase of the cell cycle. |
| protein localization to mitotic spindle | A process in which a protein is transported to, or maintained in, a location within a mitotic spindle. |
| regulation of ERK1 and ERK2 cascade | Any process that modulates the frequency, rate or extent of signal transduction mediated by the ERK1 and ERK2 cascade. |
| regulation of protein catabolic process | Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the breakdown of a protein by the destruction of the native, active configuration, with or without the hydrolysis of peptide bonds. |
| regulation of TOR signaling | Any process that modulates the frequency, rate or extent of TOR signaling. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MALLSEGLDE | VPAACLSPCG | PPNPTELFSE | SRRLALEELV | AGGPEAFAAF | LRRERLARFL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| NPDEVHAILR | AAERPGEEGA | AAAAAAEDSF | GSSHDCSSGT | YFPEQSDLEP | PLLELGWPAF |
| 130 | 140 | 150 | 160 | 170 | 180 |
| YQGAYRGATR | VETHFQPRGA | GEGGPYGCKD | ALRQQLRSAR | EVIAVVMDVF | TDIDIFRDLQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EICRKQGVAV | YILLDQALLS | QFLDMCMDLK | VHPEQEKLMT | VRTITGNIYY | ARSGTKIIGK |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VHEKFTLIDG | IRVATGSYSF | TWTDGKLNSS | NLVILSGQVV | EHFDLEFRIL | YAQSKPISPK |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LLSHFQSSNK | FDHLTNRKPQ | SKELTLGNLL | RMRLARLSST | PRKADLDPEM | PAEGKAERKP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| HDCESSTVSE | EDYFSSHRDE | LQSRKAIDAA | TQTEPGEEMP | GLSVSEVGTQ | TSITTACAGT |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QTAVITRIAS | SQTTIWSRST | TTQTDMDENI | LFPRGTQSTE | GSPVSKMSVS | RSSSLKSSSS |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VSSQGSVASS | TGSPASIRTT | DFHNPGYPKY | LGTPHLELYL | SDSLRNLNKE | RQFHFAGIRS |
| 550 | 560 | 570 | 580 | ||
| RLNHMLAMLS | RRTLFTENHL | GLHSGNFSRV | NLLAVRDVAL | YPSYQ |