Q9NWF9
PR
Gene name |
RNF216 (TRIAD3, UBCE7IP1, ZIN) |
Protein name |
E3 ubiquitin-protein ligase RNF216 |
Names |
RING finger protein 216, RING-type E3 ubiquitin transferase RNF216, Triad domain-containing protein 3, Ubiquitin-conjugating enzyme 7-interacting protein 1, Zinc finger protein inhibiting NF-kappa-B |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54476 |
EC number |
2.3.2.27: Aminoacyltransferases |
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
5 structures for Q9NWF9
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 7M4M | X-ray | 239 A | A/B | 510-784 | PDB |
| 7M4N | X-ray | 252 A | A/B | 649-784 | PDB |
| 7M4O | X-ray | 221 A | A | 649-784 | PDB |
| 8EB0 | X-ray | 303 A | A | 510-784 | PDB |
| AF-Q9NWF9-F1 | Predicted | AlphaFoldDB |
845 variants for Q9NWF9
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA4148633 rs115737075 RCV000969031 RCV002489403 |
50 | A>G | Cerebellar ataxia-hypogonadism syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000043629 rs387907370 |
148 | E>missing | Cerebellar ataxia-hypogonadism syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000180794 CA203832 rs373785974 |
245 | Q>* | Cerebellar ataxia-hypogonadism syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
CA203830 RCV000180793 rs794728000 |
399 | G>E | Cerebellar ataxia-hypogonadism syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs148642312 CA203834 RCV000180795 |
482 | Y>C | Cerebellar ataxia-hypogonadism syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000043628 rs387907369 CA143855 |
540 | C>* | Cerebellar ataxia-hypogonadism syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1335215379 VAR_070048 CA366713431 |
660 | R>C | GDHS [UniProt] | Yes |
ClinGen UniProt dbSNP gnomAD |
|
CA143853 rs387907368 VAR_070049 RCV000043627 |
694 | R>C | Cerebellar ataxia-hypogonadism syndrome GDHS [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1449103875 CA366730973 RCV000985218 |
831 | V>E | Cerebellar ataxia-hypogonadism syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000987817 CA366730931 rs141327139 |
839 | V>F | Cerebellar ataxia-hypogonadism syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs765801250 CA4148713 |
3 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296833172 CA366743366 |
4 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4148712 rs755420957 |
5 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366743356 rs1472786583 |
5 | N>K | No |
ClinGen TOPMed |
|
|
CA4148711 rs552086854 |
5 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1451691 rs1339354266 CA366743344 |
7 | N>S | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs761020190 CA366743335 |
8 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs761020190 CA4148708 |
8 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA4148707 rs773290213 |
10 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773290213 CA366743324 |
10 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366743315 rs1421128946 |
11 | I>T | No |
ClinGen gnomAD |
|
|
CA366743308 rs1314756042 |
12 | H>R | No |
ClinGen gnomAD |
|
|
rs761847598 CA4148705 |
14 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs767631495 CA4148706 |
14 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1450857913 CA366743295 |
14 | N>Y | No |
ClinGen gnomAD |
|
|
CA4148703 rs769669257 |
17 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs770619949 CA4148701 |
19 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148700 rs770619949 |
19 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759255012 CA4148702 |
19 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314779582 CA366743252 |
20 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
COSM3715816 CA4148698 rs777539320 |
20 | R>W | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs747617326 CA4148696 |
21 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs771742659 CA4148697 |
21 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA366743246 rs1317589793 |
22 | Q>E | No |
ClinGen gnomAD |
|
|
rs754291429 CA4148693 |
22 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA4148694 rs143318542 |
22 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780523336 CA4148692 |
23 | E>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000922856 CA4148651 rs140309187 |
26 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs140309187 CA366742212 |
26 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3431705 rs367900007 CA4148650 |
28 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
|
rs536794545 CA4148649 |
28 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4148648 rs536794545 |
28 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA4148646 rs781594576 |
31 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs746235007 CA4148647 |
31 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs757596414 CA4148645 |
32 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1277065890 CA366742135 |
33 | T>A | No |
ClinGen gnomAD |
|
|
CA153271246 rs747780115 |
34 | I>M | No |
ClinGen gnomAD |
|
|
CA4148643 rs777820147 |
34 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs61753532 CA4148644 |
34 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs780693172 CA4148641 |
36 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA4148642 rs758530441 |
36 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs974404861 CA153271228 |
39 | D>E | No |
ClinGen TOPMed |
|
|
rs866857689 CA153271238 |
39 | D>G | No |
ClinGen Ensembl |
|
|
CA4148640 rs766348616 |
39 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 39 | D>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766348616 CA153271240 |
39 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756077213 CA4148639 |
41 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451245823 CA366742016 |
42 | R>G | No |
ClinGen TOPMed |
|
|
CA4148638 rs750368750 |
42 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA4148637 rs767466211 |
45 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366741944 rs1562462525 |
47 | V>F | No |
ClinGen Ensembl |
|
|
CA4148636 rs761666855 |
47 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA153271201 rs966318554 |
48 | T>A | No |
ClinGen TOPMed |
|
|
rs774176143 CA4148635 |
49 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774176143 CA366741925 |
49 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763604028 CA366741913 |
50 | A>S | No |
ClinGen ExAC TOPMed |
|
|
COSM353532 rs763604028 CA4148634 |
50 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
CA4148630 rs200061775 RCV000937495 |
51 | P>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs769333718 CA4148631 |
51 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs777092689 CA4148628 |
53 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000998764 rs373969635 CA4148627 |
54 | H>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs958318211 CA153271152 |
55 | E>G | No |
ClinGen Ensembl |
|
|
CA4148625 rs370004752 |
56 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4148624 rs758486915 |
57 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427023888 CA366741811 |
57 | E>G | No |
ClinGen gnomAD |
|
| rs1562462440 | 57 | E>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4148623 rs754448862 |
59 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755083580 CA4148621 |
60 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA366741746 rs1243948372 |
62 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4148619 rs767519529 |
63 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746583540 CA153271112 |
66 | T>R | No |
ClinGen Ensembl |
|
|
rs1239554008 CA366736982 |
68 | D>E | No |
ClinGen gnomAD |
|
|
CA4148546 rs146477262 |
69 | D>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146477262 CA4148547 |
69 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1468069520 CA366736951 |
70 | S>C | No |
ClinGen TOPMed |
|
|
rs1425140274 CA366736921 |
72 | D>N | No |
ClinGen gnomAD |
|
|
rs958601435 CA153258111 |
73 | D>G | No |
ClinGen Ensembl |
|
|
CA153258112 rs992780204 |
73 | D>N | No |
ClinGen Ensembl |
|
|
CA4148544 rs759537105 |
74 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs925464984 CA153258108 |
74 | Y>H | No |
ClinGen TOPMed gnomAD |
|
|
COSM485480 rs371431845 CA366736844 |
75 | G>C | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA4148542 rs371431845 |
75 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs371431845 CA4148541 |
75 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs768474255 CA4148539 |
76 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs774237020 CA4148540 |
76 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA366736775 rs1222770352 |
77 | F>L | No |
ClinGen gnomAD |
|
|
rs145494388 CA153258061 |
81 | G>R | No |
ClinGen ESP TOPMed |
|
|
rs1321587830 CA366736678 |
82 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA366736684 rs1321587830 |
82 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs779697674 CA4148537 |
83 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA366736593 rs1359947044 |
86 | S>C | No |
ClinGen gnomAD |
|
|
rs1359947044 CA366736591 |
86 | S>F | No |
ClinGen gnomAD |
|
|
rs149159792 CA4148536 |
89 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4148535 rs745504258 |
91 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA4148533 rs756700641 |
92 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000828503 rs558822123 CA4148534 |
92 | S>R | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA366736423 rs1475796401 |
94 | Q>E | No |
ClinGen TOPMed |
|
|
rs778374326 CA366736409 |
94 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778374326 CA4148531 |
94 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs992215001 CA153257980 |
95 | T>I | No |
ClinGen TOPMed |
|
|
rs1422275803 CA366736361 |
97 | R>G | No |
ClinGen gnomAD |
|
|
rs1584551032 CA366736331 |
98 | E>D | No |
ClinGen Ensembl |
|
|
CA366736346 rs1468213121 |
98 | E>K | No |
ClinGen TOPMed |
|
|
rs758845396 CA4148529 |
99 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA153257968 rs758845396 |
99 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271519061 CA366736298 |
101 | P>S | No |
ClinGen gnomAD |
|
|
rs753042729 CA4148528 |
102 | G>R | No |
ClinGen ExAC |
|
|
rs753981927 CA4148526 |
103 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753981927 CA4148525 |
103 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366736260 rs1343066048 |
104 | S>G | No |
ClinGen TOPMed |
|
|
rs368649118 CA4148524 |
105 | H>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4148523 rs760709107 |
106 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366736187 rs1350412499 |
107 | Q>E | No |
ClinGen TOPMed |
|
|
CA366736182 rs1203698213 |
107 | Q>R | No |
ClinGen TOPMed |
|
|
rs774298290 CA4148522 |
108 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs774298290 CA366736156 |
108 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs774298290 CA366736153 |
108 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4148521 rs768525706 |
109 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs567698474 CA4148520 |
110 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA153257877 rs993406521 |
111 | D>Y | No |
ClinGen TOPMed |
|
|
rs1488764414 CA366736083 |
112 | I>F | No |
ClinGen TOPMed |
|
|
rs899071945 CA153257866 |
112 | I>S | No |
ClinGen TOPMed gnomAD |
|
|
rs899071945 CA366736078 |
112 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1396943433 CA366736068 |
113 | V>I | No |
ClinGen gnomAD |
|
|
CA366736049 rs1299880205 COSM1091052 |
114 | N>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1221997669 CA366736035 |
115 | P>R | No |
ClinGen TOPMed |
|
|
rs374810205 CA4148518 |
116 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769464668 CA4148517 |
117 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148515 rs780678121 |
118 | E>D | No |
ClinGen ExAC |
|
|
rs1470758427 CA366735990 |
119 | Q>* | No |
ClinGen gnomAD |
|
|
rs1470758427 CA366735994 |
119 | Q>E | No |
ClinGen gnomAD |
|
|
rs1200921585 CA366735981 |
119 | Q>H | No |
ClinGen TOPMed |
|
|
rs1469461329 CA366735945 |
122 | I>V | No |
ClinGen TOPMed |
|
|
rs555531536 CA4148514 |
123 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366735903 rs1197718825 |
125 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4148513 rs746460940 |
127 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA366735866 rs1333211922 |
128 | S>G | No |
ClinGen gnomAD |
|
|
rs930652893 CA153257813 |
129 | L>R | No |
ClinGen Ensembl |
|
|
CA4148512 rs778427445 |
129 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA366735839 rs1419980013 |
130 | L>F | No |
ClinGen TOPMed |
|
| TCGA novel | 130 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759038607 CA4148511 |
131 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755263260 CA366735765 |
135 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148508 rs755263260 |
135 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754117129 CA4148507 |
137 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs754117129 CA366735735 |
137 | L>W | No |
ClinGen ExAC gnomAD |
|
|
rs377486255 CA4148506 |
140 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4148505 rs760761787 |
140 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4148504 rs750439671 |
142 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767582435 CA4148503 |
144 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4148499 rs759212195 |
145 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148500 COSM421903 rs769671024 |
145 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA4148498 rs529926878 |
146 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403247821 CA366735600 |
146 | D>V | No |
ClinGen gnomAD |
|
|
rs770639223 CA4148497 |
147 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs746652973 CA366735555 |
149 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs925538404 CA153257722 |
149 | T>P | No |
ClinGen TOPMed |
|
|
CA4148496 rs746652973 |
149 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA153257696 CA366735542 rs958623853 |
150 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 150 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366735524 rs1161673382 |
152 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs771683505 CA4148494 |
153 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA4148493 rs373416089 |
154 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366735513 rs1481274814 |
154 | N>Y | No |
ClinGen gnomAD |
|
|
CA4148492 rs569475289 |
155 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs78387970 CA4148491 |
156 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4148490 rs749561759 |
157 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1200138022 CA366735497 |
157 | E>K | No |
ClinGen gnomAD |
|
|
rs370702417 CA4148489 |
159 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262279961 CA366735483 |
159 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1323025979 CA366735476 |
160 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 160 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4148488 rs377313391 |
161 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA153257639 rs561230980 |
162 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561230980 CA4148486 |
162 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379991554 CA366735452 |
164 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4148484 rs752710962 |
165 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1020030411 CA153257615 |
165 | Q>P | No |
ClinGen TOPMed |
|
|
CA4148482 rs776355060 |
166 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA4148483 rs765025959 |
166 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776355060 CA4148481 |
166 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4148479 rs760450229 |
168 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4148478 rs772966098 |
171 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA366735397 rs1186852853 RCV001043398 |
172 | W>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA366735401 rs1366817245 |
172 | W>G | No |
ClinGen gnomAD |
|
|
rs771734800 CA4148477 |
174 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs199640368 CA4148474 |
176 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4148475 rs199640368 |
176 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 178 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373222000 CA153257529 |
180 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4148473 rs373222000 |
180 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA153257528 rs962658964 |
181 | L>Q | No |
ClinGen TOPMed |
|
|
rs1019090616 CA153257520 |
182 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA4148471 rs746130603 COSM461571 |
186 | R>C | cervix [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs746130603 CA4148470 |
186 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148469 rs747054051 |
186 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747054051 CA366734298 |
186 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1227439625 CA366734290 |
187 | E>Q | No |
ClinGen gnomAD |
|
|
rs757380790 CA4148468 |
187 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA366734261 rs565625267 |
188 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1296027536 CA366734275 |
188 | I>V | No |
ClinGen gnomAD |
|
|
rs764228194 CA4148466 |
191 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA153257472 rs1016143423 |
191 | Q>R | No |
ClinGen TOPMed |
|
|
rs200838092 CA4148465 |
192 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA366734198 rs1427122406 |
192 | V>G | No |
ClinGen gnomAD |
|
|
rs200838092 CA366734206 |
192 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4148463 rs780202325 |
193 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760503249 CA4148462 |
194 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs376451333 CA153257428 |
194 | P>R | No |
ClinGen ESP gnomAD |
|
|
CA4148459 rs368434165 |
197 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368434165 CA4148458 COSM1091050 |
197 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA4148460 rs372108527 |
197 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4148457 rs371533313 |
198 | Q>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366734099 rs775947758 |
199 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA4148455 rs775947758 |
199 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA366734035 rs1399896741 |
201 | A>V | No |
ClinGen Ensembl |
|
|
CA366734017 rs930643040 |
202 | E>A | No |
ClinGen gnomAD |
|
|
CA153257352 rs930643040 |
202 | E>G | No |
ClinGen gnomAD |
|
|
rs1217675957 CA366733962 |
204 | G>D | No |
ClinGen gnomAD |
|
|
rs1275726175 CA366733980 |
204 | G>R | No |
ClinGen gnomAD |
|
|
CA4148452 rs781396306 |
205 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148453 rs781396306 |
205 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148451 rs191573023 |
205 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA153257337 rs536715821 |
206 | L>S | No |
ClinGen gnomAD |
|
|
rs1323535237 CA366733881 |
207 | L>F | No |
ClinGen gnomAD |
|
|
CA153257329 rs1036839657 |
209 | Q>H | No |
ClinGen gnomAD |
|
|
CA366733817 rs1168562533 |
210 | H>L | No |
ClinGen gnomAD |
|
|
CA366733818 rs1168562533 |
210 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs758469380 CA4148448 |
210 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA366733783 rs1259941048 |
212 | F>S | No |
ClinGen TOPMed |
|
|
CA4148447 rs753855311 |
214 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs147881383 CA4148444 |
216 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366733631 rs761433343 |
219 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148442 rs761433343 |
219 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751204482 CA366733614 |
220 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140264038 CA4148440 |
220 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4148441 rs751204482 |
220 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366733576 rs1426244550 |
221 | E>D | No |
ClinGen TOPMed |
|
|
CA366733596 rs1562450421 |
221 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs775999162 CA4148438 |
222 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148437 rs770228886 |
223 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4148436 rs144900235 COSM1264387 |
223 | Q>H | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1274588943 CA366733506 |
224 | Q>H | No |
ClinGen gnomAD |
|
|
rs771303065 CA4148434 |
224 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA366733511 rs771303065 |
224 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA4148433 rs747232763 |
226 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148432 rs778013843 |
227 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA4148431 rs141050143 RCV000954263 |
228 | S>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1406915561 CA366733402 |
229 | G>D | No |
ClinGen gnomAD |
|
|
rs748177680 CA4148430 |
229 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs780148312 CA153257228 |
230 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780148312 CA4148429 |
230 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs367746074 CA153257216 |
231 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367746074 CA4148428 |
231 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1158885487 CA366733339 |
232 | S>F | No |
ClinGen gnomAD |
|
|
rs1471130027 CA366733333 |
233 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4148427 rs186071688 |
233 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1471130027 COSM1187255 CA366733336 |
233 | P>S | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs780901134 CA366733303 |
234 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757046985 CA4148425 |
235 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148424 rs763753865 |
236 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA366733276 rs1244424789 |
236 | A>T | No |
ClinGen gnomAD |
|
|
CA4148423 rs763753865 |
236 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1344949829 CA366733239 |
237 | H>Q | No |
ClinGen TOPMed |
|
|
CA153257197 rs968360972 |
238 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs141968108 CA4148421 |
240 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366733145 rs1224627740 |
242 | F>S | No |
ClinGen gnomAD |
|
|
CA153257193 rs988902625 |
242 | F>V | No |
ClinGen Ensembl |
|
|
rs1356279350 CA366733132 |
243 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA366733127 rs1356279350 |
243 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA4148420 rs764713115 |
244 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA153257179 rs930114993 |
244 | D>N | No |
ClinGen TOPMed |
|
|
rs373785974 CA153257173 |
245 | Q>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA4148419 rs760083303 |
245 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs578234841 CA4148418 |
247 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1218309680 CA366733001 |
250 | D>E | No |
ClinGen TOPMed |
|
|
CA4148416 rs761048838 |
251 | D>V | No |
ClinGen ExAC gnomAD |
|
|
RCV001009105 rs1584549575 |
253 | E>missing | No |
ClinVar dbSNP |
|
|
rs773316583 CA4148415 |
253 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763545525 CA153257111 |
254 | P>L | No |
ClinGen TOPMed |
|
|
CA153257113 rs763545525 |
254 | P>Q | No |
ClinGen TOPMed |
|
|
rs974095536 CA153257117 |
254 | P>S | No |
ClinGen TOPMed |
|
|
CA4148412 rs748380155 |
255 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs151280655 CA4148413 |
255 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1415371924 CA366732927 |
256 | P>A | No |
ClinGen gnomAD |
|
|
rs774634750 CA4148411 |
256 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs370674291 CA4148410 |
257 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375136020 CA4148408 |
260 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1009058402 CA153257080 |
261 | Q>E | No |
ClinGen Ensembl |
|
|
rs1362391783 CA366732815 |
263 | S>F | No |
ClinGen TOPMed |
|
|
CA366732810 rs1421816686 COSM1313214 |
264 | Q>E | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA4148407 rs757027529 |
264 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs953586262 CA366732781 CA153257056 |
265 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1363902426 CA366732794 |
265 | E>Q | No |
ClinGen gnomAD |
|
|
rs1029182217 CA153257051 |
267 | N>H | No |
ClinGen gnomAD |
|
|
CA4148404 rs148428368 |
267 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148428368 CA4148405 |
267 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366732749 rs1271035947 |
268 | L>M | No |
ClinGen gnomAD |
|
|
CA366732745 rs1402056982 |
268 | L>W | No |
ClinGen gnomAD |
|
|
CA366732739 rs1297314701 |
269 | E>A | No |
ClinGen gnomAD |
|
|
rs752324749 CA4148403 |
269 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs555745151 CA366732722 |
271 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754321719 CA4148400 |
271 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs573908135 CA4148401 |
271 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366732718 rs1419567670 |
272 | W>L | No |
ClinGen gnomAD |
|
|
rs370754982 CA4148396 |
278 | E>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs765152327 CA153257008 |
279 | V>I | No |
ClinGen TOPMed |
|
|
CA366732606 rs1216254834 |
280 | D>N | Variant assessed as Somatic; 4.633e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4148395 rs762177929 |
281 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4148394 rs774687563 |
283 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366732551 rs774687563 |
283 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148392 rs776447106 |
284 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148391 rs776447106 |
284 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770835110 CA4148390 |
285 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA4148388 rs569791444 |
286 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747828682 CA4148386 |
288 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1369460975 CA366732471 |
289 | K>* | No |
ClinGen gnomAD |
|
|
rs1291754915 CA366732456 |
290 | E>Q | No |
ClinGen gnomAD |
|
| rs754494362 | 291 | T>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4148385 rs557865990 |
291 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA366732034 rs1265070580 |
293 | A>G | No |
ClinGen gnomAD |
|
|
rs773143600 CA4148352 |
293 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA366731971 rs1191168760 |
296 | P>A | No |
ClinGen gnomAD |
|
|
rs1290589448 CA366731920 |
298 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA366731930 rs771925449 |
298 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148351 rs771925449 |
298 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1211534087 CA366731911 |
299 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA4148349 rs774186144 |
300 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1228407939 CA366731750 |
305 | E>A | No |
ClinGen gnomAD |
|
|
rs749012116 CA4148347 |
306 | I>V | No |
ClinGen ExAC |
|
| TCGA novel | 310 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA153255523 rs888242086 |
310 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1326110842 CA366731572 |
314 | D>A | No |
ClinGen gnomAD |
|
|
rs769372341 CA366731553 |
315 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769372341 CA366731548 |
315 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366731499 rs1407532847 |
317 | V>L | No |
ClinGen gnomAD |
|
|
CA4148318 rs758802853 |
318 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs748391540 CA4148317 |
319 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1303366879 CA366729537 |
319 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
CA366729538 rs1303366879 |
319 | C>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1241481233 CA366729530 |
320 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs779327216 CA4148316 |
321 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA366729513 rs1441755421 |
323 | L>M | No |
ClinGen gnomAD |
|
|
rs755210221 CA4148315 |
325 | N>H | No |
ClinGen ExAC |
|
|
rs1336385608 CA366729491 |
326 | P>T | No |
ClinGen gnomAD |
|
|
rs1412606991 CA366729486 |
327 | D>H | No |
ClinGen gnomAD |
|
|
rs1459909068 CA366729472 |
328 | Y>* | No |
ClinGen TOPMed |
|
|
CA366729476 rs1382780321 |
328 | Y>C | No |
ClinGen TOPMed |
|
|
rs1041552305 CA153242940 |
330 | K>E | No |
ClinGen TOPMed |
|
|
rs766488878 CA4148313 |
332 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs766488878 CA366729451 |
332 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs111942365 CA366729437 |
333 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366729434 rs1472835365 |
334 | R>T | No |
ClinGen gnomAD |
|
|
rs138509914 CA4148310 |
336 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366729412 rs1280001433 |
337 | I>R | No |
ClinGen gnomAD |
|
|
CA4148309 rs762812573 |
337 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1193876467 CA366729400 |
339 | P>S | No |
ClinGen TOPMed |
|
|
rs1356385888 CA366729395 |
340 | S>G | No |
ClinGen gnomAD |
|
|
CA4148307 rs765069396 |
340 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1379974553 CA366729382 |
341 | S>R | No |
ClinGen gnomAD |
|
|
rs1259704935 CA366729374 |
342 | S>N | No |
ClinGen TOPMed |
|
|
CA366729372 rs1457938055 |
342 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1240788562 CA366729356 |
345 | A>V | No |
ClinGen TOPMed |
|
|
CA4148305 rs776382188 |
346 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA4148304 rs770585905 |
346 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1298515863 CA366729337 |
348 | D>G | No |
ClinGen gnomAD |
|
|
rs772517763 CA4148301 |
351 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA366729289 rs1439608918 |
353 | P>L | No |
ClinGen gnomAD |
|
|
CA366729276 rs1333005979 |
355 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs766258569 CA4148270 |
356 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA366729269 rs1463686486 |
356 | D>G | No |
ClinGen gnomAD |
|
|
CA4148268 rs750058512 |
357 | F>I | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs750058512 CA4148269 |
357 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen ExAC gnomAD |
|
CA153241631 rs746176452 |
359 | D>A | No |
ClinGen Ensembl |
|
|
rs1434111171 CA366729240 |
360 | Y>C | No |
ClinGen gnomAD |
|
|
rs144615363 CA4148265 |
361 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs774738180 CA4148263 |
362 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769089631 CA4148262 |
362 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1397559258 CA366729185 |
364 | T>I | No |
ClinGen TOPMed |
|
|
CA366729195 rs1584526070 |
364 | T>P | No |
ClinGen Ensembl |
|
|
CA4148258 rs746119138 |
365 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148259 rs746119138 |
365 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148256 rs770928352 |
367 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366729157 rs770928352 |
367 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777995180 CA4148254 |
369 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs202131937 CA4148253 |
369 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202131937 CA366729124 |
369 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1444125777 CA366729100 |
371 | F>V | No |
ClinGen gnomAD |
|
|
rs755895480 CA4148250 |
373 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs767143684 CA4148248 |
378 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1451673 rs757361864 CA4148245 |
381 | D>N | large_intestine Variant assessed as Somatic; 4.619e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1205312600 CA366728938 |
383 | K>E | No |
ClinGen TOPMed |
|
|
CA4148244 rs763501382 |
383 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1180527195 CA366728907 |
385 | L>H | No |
ClinGen gnomAD |
|
|
rs1250158642 CA366728873 |
388 | Q>* | No |
ClinGen gnomAD |
|
|
CA4148243 rs749528774 |
391 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA153241450 rs749528774 |
391 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs765622909 CA4148242 |
392 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs1562437571 CA366728802 |
393 | A>T | No |
ClinGen Ensembl |
|
|
rs140252359 CA4148241 |
393 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776720783 CA4148240 |
395 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366728778 rs1180038052 |
395 | H>R | No |
ClinGen TOPMed |
|
|
CA4148237 rs773471407 |
398 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs747185634 CA4148238 |
398 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs772243747 CA366728718 |
400 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA366728714 rs749265726 |
400 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772243747 CA4148236 |
400 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA4148234 rs780088912 |
402 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366728701 rs780088912 |
402 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148233 rs755878331 |
403 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148232 rs745613035 |
404 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA366728684 rs1160967933 |
405 | R>Q | No |
ClinGen gnomAD |
|
|
rs1404450303 CA366728549 |
407 | A>V | No |
ClinGen TOPMed |
|
|
CA366728535 CA4148205 rs752269827 |
408 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA4148204 rs778272977 |
409 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366728520 rs1225878798 |
410 | D>H | No |
ClinGen gnomAD |
|
|
CA366728498 rs1343624041 |
411 | A>G | No |
ClinGen TOPMed |
|
|
CA366728504 rs1326293565 |
411 | A>T | No |
ClinGen gnomAD |
|
|
rs1225278715 CA366728494 |
412 | I>V | No |
ClinGen TOPMed |
|
|
CA366728477 rs1324765017 |
413 | K>* | No |
ClinGen gnomAD |
|
|
rs1157927233 CA366728450 |
415 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA366728425 rs1468592577 |
416 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA4148203 rs755557568 |
417 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1443251598 CA366728416 |
417 | E>Q | No |
ClinGen gnomAD |
|
|
CA366728399 rs1562433194 |
418 | L>V | No |
ClinGen Ensembl |
|
|
rs1425512691 CA366728388 |
419 | S>P | No |
ClinGen gnomAD |
|
|
CA4148200 rs761069998 |
420 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA366728378 rs761069998 |
420 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs762125060 CA4148197 |
422 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs762125060 CA4148198 |
422 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA366728340 rs1266170335 |
423 | S>G | No |
ClinGen TOPMed |
|
|
rs774551921 CA4148196 |
423 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148195 rs768596220 |
426 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA4148194 rs759559112 |
426 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA366728283 rs1200238024 |
427 | K>R | No |
ClinGen TOPMed |
|
|
CA4148192 rs770785618 |
428 | K>Q | No |
ClinGen ExAC gnomAD |
|
| rs1275563847 | 428 | K>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 429 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1468965901 CA366728255 |
429 | R>T | No |
ClinGen TOPMed |
|
|
rs771766081 CA4148190 |
430 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs771766081 CA4148189 |
430 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA4148188 rs747773226 |
431 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA4148187 rs778525036 |
433 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1302682576 CA366728181 |
434 | Q>H | No |
ClinGen gnomAD |
|
|
CA366728183 rs1368916173 |
434 | Q>R | No |
ClinGen gnomAD |
|
|
CA366728141 rs1356557114 |
437 | Y>* | No |
ClinGen gnomAD |
|
|
rs1327099760 CA366728086 |
441 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs754390760 CA4148185 |
443 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA4148184 rs780365536 |
444 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA366727597 rs1317438535 |
445 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA4148150 rs768262823 |
446 | D>N | No |
ClinGen ExAC |
|
|
rs1227811998 CA366727574 |
447 | I>L | No |
ClinGen TOPMed |
|
|
rs748958859 CA4148149 |
447 | I>R | No |
ClinGen ExAC gnomAD |
|
|
rs1419667625 CA366727543 |
449 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 450 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366727533 rs1398849784 |
450 | E>K | No |
ClinGen gnomAD |
|
|
CA366727488 rs374809313 |
452 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4148146 rs746411828 |
454 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA366727454 rs1417528269 |
455 | F>V | No |
ClinGen gnomAD |
|
|
rs201663977 COSM3778517 CA153233917 |
456 | L>F | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA |
|
rs781747827 COSM1623013 CA4148145 |
458 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
COSM1549947 CA4148144 rs757713293 |
459 | K>M | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
| TCGA novel | 460 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747273538 CA4148143 |
460 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs747273538 CA153233897 |
460 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA366727374 rs1240438751 |
461 | R>* | No |
ClinGen gnomAD |
|
|
CA366727376 rs1240438751 |
461 | R>G | No |
ClinGen gnomAD |
|
|
rs778183712 COSM1223984 CA4148142 |
461 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA366727337 rs1452247720 |
463 | C>F | No |
ClinGen gnomAD |
|
|
CA366727339 rs1452247720 |
463 | C>S | No |
ClinGen gnomAD |
|
|
rs1275324766 CA366727329 |
464 | R>G | No |
ClinGen gnomAD |
|
|
rs1013187651 CA153233887 |
464 | R>K | No |
ClinGen TOPMed |
|
|
rs371558326 CA4148141 |
465 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
rs371558326 CA153233881 |
465 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4148140 rs752929444 |
466 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA366727296 rs752929444 |
466 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
rs1278531721 CA366727286 |
467 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs887390137 CA153233866 |
467 | D>N | No |
ClinGen TOPMed |
|
|
rs765327870 CA4148139 |
468 | R>* | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA366727277 rs765327870 |
468 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs188558006 COSM1091048 CA4148138 |
468 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs750372582 CA4148137 |
469 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM72461 rs996137713 CA153233847 |
469 | R>H | ovary Variant assessed as Somatic; impact. breast [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs996137713 CA366727261 |
469 | R>P | No |
ClinGen TOPMed |
|
|
rs887480875 CA153233838 |
474 | A>S | No |
ClinGen Ensembl |
|
|
rs1427166459 CA366727194 |
475 | V>M | No |
ClinGen TOPMed |
|
|
CA366727146 rs1370391603 |
478 | E>Q | No |
ClinGen TOPMed |
|
|
rs1460554928 CA366727131 |
479 | Q>E | No |
ClinGen gnomAD |
|
|
rs1417595014 CA366727125 |
479 | Q>R | No |
ClinGen gnomAD |
|
|
CA366727113 rs1430648935 |
480 | E>Q | No |
ClinGen gnomAD |
|
|
rs1186411160 CA366727085 |
481 | F>L | No |
ClinGen gnomAD |
|
|
rs148642312 CA4148132 |
482 | Y>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1254927247 CA366727064 |
483 | E>G | No |
ClinGen gnomAD |
|
|
CA153233813 rs374251836 |
483 | E>Q | No |
ClinGen ESP TOPMed |
|
|
rs374254730 CA366727054 |
484 | Q>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4148130 rs374254730 |
484 | Q>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374254730 CA4148131 |
484 | Q>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4148129 rs777283895 |
485 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1206449047 CA366727022 |
486 | I>V | No |
ClinGen gnomAD |
|
|
rs1305522810 CA366727011 |
487 | K>E | No |
ClinGen gnomAD |
|
|
rs747525981 CA4148127 |
488 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA366726970 rs1463844584 |
489 | M>T | No |
ClinGen gnomAD |
|
|
CA4148106 rs748444372 |
492 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772336749 CA4148107 |
492 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA153229756 rs908511456 |
493 | E>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 494 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366724628 rs1161599139 |
494 | D>E | No |
ClinGen gnomAD |
|
|
rs779243852 CA4148105 |
496 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA4148103 rs749491604 |
497 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4148101 rs756179563 |
500 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs184726431 CA4148099 |
501 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1261927833 CA366724523 |
503 | E>K | No |
ClinGen gnomAD |
|
|
CA366724487 rs1584502795 |
504 | E>G | No |
ClinGen Ensembl |
|
|
CA4148098 rs373383311 |
506 | Y>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA366723727 rs1316030151 |
507 | Q>H | No |
ClinGen gnomAD |
|
|
rs1215184402 CA366723292 |
509 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA4148073 rs766913396 |
510 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA366723138 rs1447976872 |
514 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
CA4148072 rs147871230 |
516 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774802520 CA4148071 |
516 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA366723090 rs147871230 |
516 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1225812501 CA366723071 |
517 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA4148070 rs764464402 |
519 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1369141525 CA366722989 |
522 | F>S | No |
ClinGen gnomAD |
|
|
CA153228117 rs987532851 |
523 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1407935133 CA366722942 |
525 | E>D | No |
ClinGen TOPMed |
|
|
rs375927503 CA4148066 |
525 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1461363835 CA366722936 |
526 | E>* | No |
ClinGen gnomAD |
|
|
rs776809455 CA4148065 |
526 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4148064 rs771092760 |
527 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144654379 CA4148062 |
528 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs144654379 CA4148063 |
528 | T>R | No |
ClinGen ESP ExAC gnomAD |
|
|
CA366722877 rs755838897 |
530 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148057 rs141012211 |
531 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs767047048 CA4148056 |
532 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA153228095 rs549215208 |
532 | D>Y | No |
ClinGen Ensembl |
|
|
CA4148054 rs752075507 |
533 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4148055 rs756707893 |
533 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA366722753 rs1345787850 |
538 | K>Q | No |
ClinGen gnomAD |
|
|
CA366722661 rs1562421757 |
542 | I>V | No |
ClinGen Ensembl |
|
|
CA366722634 rs1562421744 |
543 | R>S | No |
ClinGen Ensembl |
|
|
CA4148050 rs765500938 |
543 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1408980466 CA366722614 |
545 | A>T | No |
ClinGen gnomAD |
|
|
rs776665586 CA4148048 |
546 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA366722593 rs1175400886 |
546 | Q>R | No |
ClinGen gnomAD |
|
|
rs1432378322 CA366722581 |
547 | E>A | No |
ClinGen gnomAD |
|
|
rs1393903184 CA366722571 |
548 | A>V | No |
ClinGen gnomAD |
|
|
CA366722568 rs1251826223 |
549 | V>F | No |
ClinGen TOPMed |
|
| TCGA novel | 555 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366721395 rs1387450053 |
560 | M>I | No |
ClinGen gnomAD |
|
|
CA4148018 rs200769983 |
560 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200769983 CA4148019 |
560 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270664493 CA366721333 |
564 | C>R | No |
ClinGen gnomAD |
|
|
rs147757575 CA4148017 |
565 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4148016 rs199668867 |
565 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4148014 rs777307401 |
566 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs757793877 CA4148013 |
567 | S>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 569 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366721295 rs1413749943 |
570 | T>A | No |
ClinGen gnomAD |
|
|
CA153225938 rs1008139476 |
571 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1246218876 CA366721274 |
573 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA4148007 rs756442697 |
576 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA366721245 rs1584495328 |
577 | L>P | No |
ClinGen Ensembl |
|
|
CA366721236 rs1216219008 |
579 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1216219008 CA366721237 |
579 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA366721229 rs761744052 |
580 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA4148004 rs761744052 |
580 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs765156428 CA4148002 |
581 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA4147999 rs770686474 |
583 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4147998 rs746682653 |
584 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 585 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366721195 rs1171766763 |
585 | Y>C | No |
ClinGen gnomAD |
|
|
rs756599525 CA153225867 |
586 | Y>C | No |
ClinGen gnomAD |
|
|
CA4147997 rs374481544 |
588 | R>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1319714114 CA366721164 |
590 | A>T | No |
ClinGen gnomAD |
|
|
CA4147994 rs778471742 |
591 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4147995 rs747676731 |
591 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1488054495 CA366721138 |
593 | E>D | No |
ClinGen gnomAD |
|
|
rs1562419236 CA366721130 |
595 | A>T | No |
ClinGen Ensembl |
|
|
rs150881855 CA4147992 |
595 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA366721124 rs1273827146 |
596 | A>P | No |
ClinGen gnomAD |
|
|
rs1273827146 CA366721125 |
596 | A>T | No |
ClinGen gnomAD |
|
|
rs1584495124 CA366721116 |
597 | A>G | No |
ClinGen Ensembl |
|
|
rs906891297 CA153225823 |
597 | A>T | No |
ClinGen TOPMed |
|
|
CA4147989 rs750687701 |
599 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366721095 rs1299042343 |
600 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA4147987 rs202033038 |
600 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4147986 rs751651090 |
601 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366721080 rs1408199958 |
603 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA4147952 rs747220764 |
605 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1344249112 CA366719968 |
606 | P>L | No |
ClinGen TOPMed |
|
|
CA366719957 rs1299838298 |
607 | S>F | No |
ClinGen gnomAD |
|
|
rs1584493274 CA366719899 |
611 | P>A | No |
ClinGen Ensembl |
|
|
rs377674225 CA4147950 |
611 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs142393636 CA4147947 |
612 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA4147945 rs767238439 |
616 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761610775 CA4147944 |
617 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs920358887 CA153224445 |
618 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA366719774 rs1166248339 |
619 | K>R | No |
ClinGen gnomAD |
|
|
CA366719746 rs1253296372 |
620 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA366719723 rs763906664 |
622 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4147942 rs763906664 |
622 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374914168 CA4147940 |
626 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1209779309 CA366719650 |
626 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs374914168 CA4147939 |
626 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1358276709 CA366719645 |
627 | H>L | No |
ClinGen TOPMed |
|
|
rs759994976 CA4147938 |
627 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA4147936 rs771216799 |
629 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366719614 rs771216799 |
629 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs144580837 CA366719607 |
629 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144580837 CA4147935 |
629 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs144580837 CA366719609 |
629 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366713926 rs1422758671 |
632 | T>A | No |
ClinGen TOPMed |
|
|
rs757268566 CA4147908 |
632 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs777743803 CA4147906 |
635 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286167956 CA366713807 |
638 | G>E | No |
ClinGen gnomAD |
|
|
CA4147904 rs752415231 |
639 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1584381479 CA366713781 |
639 | L>P | No |
ClinGen Ensembl |
|
|
rs1285851484 CA366713726 |
642 | E>K | No |
ClinGen gnomAD |
|
|
rs764920439 CA4147903 |
644 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366713641 rs1318602597 |
645 | G>D | No |
ClinGen gnomAD |
|
|
rs753434053 CA4147901 |
646 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs528531458 CA153216753 |
647 | T>N | No |
ClinGen gnomAD |
|
|
rs1415214651 CA366713566 |
651 | L>V | No |
ClinGen gnomAD |
|
|
rs1184055491 CA366713551 |
652 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 652 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA4147900 rs765773341 |
652 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA153216730 rs768331795 |
654 | K>N | No |
ClinGen Ensembl |
|
|
CA153216726 rs773659215 |
656 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773659215 CA4147898 |
656 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466467556 CA366713465 |
657 | I>M | No |
ClinGen gnomAD |
|
|
rs1562791354 CA366713476 |
657 | I>V | No |
ClinGen Ensembl |
|
|
rs1022310483 CA366713439 |
659 | Y>C | No |
ClinGen gnomAD |
|
|
rs1022310483 CA153216688 |
659 | Y>S | No |
ClinGen gnomAD |
|
|
rs1291967194 CA366713423 |
660 | R>H | No |
ClinGen gnomAD |
|
|
rs1009951418 CA153216682 |
662 | S>A | No |
ClinGen Ensembl |
|
|
rs28642169 CA4147896 |
662 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA153208389 rs149328847 |
663 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA153216662 rs372260373 |
663 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs762099212 CA4147895 |
663 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA366711969 rs1562781070 |
665 | E>G | No |
ClinGen Ensembl |
|
|
rs13236790 CA153208381 |
666 | K>E | No |
ClinGen Ensembl |
|
|
rs1214871090 CA366711946 |
668 | T>I | No |
ClinGen TOPMed |
|
|
rs1043777466 CA153208376 |
671 | R>C | No |
ClinGen TOPMed |
|
|
rs373552715 CA4147871 |
671 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366711927 rs1217887791 |
672 | I>V | No |
ClinGen gnomAD |
|
|
CA366711822 rs1178470057 |
679 | G>W | No |
ClinGen TOPMed |
|
|
CA4147870 rs373884421 |
680 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373884421 CA4147869 |
680 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1464133662 CA366711787 |
682 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 683 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 686 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA366711708 rs748063362 |
687 | G>C | No |
ClinGen ExAC gnomAD |
|
|
rs748063362 CA4147867 |
687 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA366711633 rs1411409901 |
690 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA4147865 rs201028513 |
690 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201028513 CA4147864 |
690 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4147863 rs779504690 |
691 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA366711580 rs1427634880 |
692 | S>F | No |
ClinGen gnomAD |
|
|
CA4147862 rs755758941 |
692 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs377498743 CA4147861 |
694 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs377498743 CA366711507 |
694 | R>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs757802792 CA4147859 |
696 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA4147858 rs751972356 |
697 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA4147857 rs764544730 |
699 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs753662477 CA153208337 |
701 | Y>H | No |
ClinGen Ensembl |
|
|
rs1461715422 CA366711137 |
704 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA4147855 rs752972208 |
706 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA4147854 rs765448062 |
707 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA153208330 rs961017759 |
708 | N>D | No |
ClinGen TOPMed |
|
|
CA4147853 rs759805072 |
709 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA4147852 rs776887119 |
711 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1288245422 CA366710725 |
716 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
CA366710720 rs1414470913 |
716 | H>R | No |
ClinGen TOPMed |
|
|
CA366710724 rs1288245422 |
716 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1291599394 CA366710708 |
717 | P>A | No |
ClinGen TOPMed |
|
|
rs1357776557 CA366710676 |
718 | R>C | No |
ClinGen TOPMed |
|
|
rs369720329 CA4147848 |
720 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366710543 rs1389636524 |
722 | A>V | No |
ClinGen gnomAD |
|
|
CA4147846 rs775341572 |
723 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1028540252 CA153208311 |
723 | P>S | No |
ClinGen TOPMed |
|
|
CA366710491 rs1002652158 |
724 | C>* | No |
ClinGen gnomAD |
|
|
CA153208307 rs1002652158 |
724 | C>W | No |
ClinGen gnomAD |
|
|
rs1207225422 CA366710480 |
725 | Q>R | No |
ClinGen TOPMed |
|
|
CA4147845 rs769486215 |
726 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs907170222 CA153208298 |
728 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1425074236 CA366710366 |
729 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA4147844 rs745489441 |
730 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1022820637 CA153208287 |
731 | S>C | No |
ClinGen gnomAD |
|
|
rs1012568298 CA366710219 |
735 | D>H | No |
ClinGen TOPMed |
|
|
CA153208280 rs1012568298 |
735 | D>N | No |
ClinGen TOPMed |
|
|
rs747567101 CA4147841 |
736 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366732280 rs1166341998 |
739 | D>V | No |
ClinGen gnomAD |
|
|
rs941861619 CA153256588 |
740 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA153256585 rs907420661 |
741 | E>D | No |
ClinGen Ensembl |
|
|
CA4147811 rs752588814 |
741 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs752785925 CA153256582 |
743 | L>F | No |
ClinGen gnomAD |
|
|
CA4147810 rs765019115 |
743 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA366732145 rs1222353113 |
744 | I>T | No |
ClinGen gnomAD |
|
|
rs759265957 CA4147809 |
745 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1276796111 CA366732036 |
749 | K>E | No |
ClinGen gnomAD |
|
|
rs1339060167 CA366732014 |
750 | E>K | No |
ClinGen gnomAD |
|
|
CA366732003 rs1275630689 |
750 | E>V | No |
ClinGen gnomAD |
|
|
rs776393751 CA4147808 |
751 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4147807 rs770633469 |
754 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1372315370 CA366731890 |
756 | K>E | No |
ClinGen gnomAD |
|
|
CA4147806 rs760339546 |
756 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1313771233 CA366731868 |
757 | R>G | No |
ClinGen TOPMed |
|
|
CA366731864 rs1360099985 |
757 | R>K | No |
ClinGen TOPMed |
|
|
CA4147804 rs771574713 |
760 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA366731808 rs1173916437 |
760 | G>R | No |
ClinGen gnomAD |
|
|
CA4147803 rs748610411 |
761 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs772857896 CA4147787 |
762 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
CA153255755 rs1053415608 |
763 | T>I | No |
ClinGen TOPMed |
|
|
rs1584323955 CA366731587 |
763 | T>P | No |
ClinGen Ensembl |
|
|
rs771498706 CA4147786 |
766 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs761469213 CA4147785 RCV000487441 |
766 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA366731460 rs1285509321 |
769 | P>T | No |
ClinGen gnomAD |
|
|
rs754905702 CA4147782 COSM1264388 |
770 | P>L | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs754905702 CA366731439 |
770 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4147779 rs746080152 |
771 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4147780 rs770154314 |
771 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA4147778 rs781416037 |
772 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA153255716 rs746947360 |
773 | K>E | No |
ClinGen Ensembl |
|
|
rs1392809226 CA366731291 |
781 | V>A | No |
ClinGen TOPMed |
|
|
rs751701167 CA4147776 |
781 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777795346 CA4147775 |
782 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA4147774 rs754953817 |
783 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366731272 rs1165110040 |
783 | A>T | No |
ClinGen gnomAD |
|
|
CA366731263 rs754953817 |
783 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366731249 rs1354639876 |
785 | P>A | No |
ClinGen TOPMed |
|
|
COSM1090977 RCV000998763 rs753739330 CA4147773 |
785 | P>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA4147771 rs755883175 |
786 | R>G | No |
ClinGen ExAC |
|
|
CA4147770 CA366731241 rs750173731 |
786 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA366731243 rs1466093765 |
786 | R>T | No |
ClinGen gnomAD |
|
|
CA4147768 rs761527954 |
788 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1725200 CA153255666 rs774053707 |
789 | P>L | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs774053707 CA4147767 |
789 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1250860895 CA366731229 |
789 | P>T | No |
ClinGen TOPMed |
|
|
CA366731223 rs1358046957 |
790 | Q>* | No |
ClinGen gnomAD |
|
|
CA4147765 rs763585187 |
790 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149012430 CA366731213 |
791 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775997451 CA4147764 |
791 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs199612178 CA366731211 |
792 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA366731208 rs1430421613 |
792 | L>Q | No |
ClinGen gnomAD |
|
|
CA366731210 rs1430421613 |
792 | L>R | No |
ClinGen gnomAD |
|
|
rs199612178 CA153255653 |
792 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA4147760 rs145800933 |
795 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747205368 CA4147759 |
796 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA366731171 rs1360635871 |
798 | P>A | No |
ClinGen gnomAD |
|
|
rs777866534 CA4147757 |
799 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149833669 CA4147756 |
800 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA366731157 rs149833669 |
800 | Y>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA4147755 rs749240431 |
801 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA4147754 rs780100174 |
801 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA4147749 rs201457738 |
803 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs767195404 CA4147752 |
803 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4147751 rs767195404 |
803 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201457738 CA4147750 |
803 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366731138 rs1584323598 |
804 | H>P | No |
ClinGen Ensembl |
|
|
CA4147747 rs762492956 |
804 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs150494013 CA4147745 |
807 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs777098396 CA4147743 |
808 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs1336991763 CA366731107 |
809 | L>Q | No |
ClinGen gnomAD |
|
|
rs545075166 CA4147741 |
810 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201968813 CA4147738 |
812 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA4147737 rs748329404 |
813 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1353027171 CA366731087 |
813 | R>W | No |
ClinGen gnomAD |
|
|
CA366731081 rs1584323509 |
814 | P>R | No |
ClinGen Ensembl |
|
|
CA366731074 rs1196999127 |
815 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
RCV000975947 CA4147736 rs148352106 |
815 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA153255486 rs1012119967 |
816 | F>L | No |
ClinGen gnomAD |
|
|
rs200453921 CA4147735 |
817 | N>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366731066 rs200453921 |
817 | N>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA366731055 rs1479341951 |
818 | N>S | No |
ClinGen gnomAD |
|
|
CA366731044 rs1421168191 |
819 | F>L | No |
ClinGen TOPMed |
|
|
CA366731042 rs745745214 |
820 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4147734 rs745745214 |
820 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366731043 rs745745214 |
820 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1210298810 CA366731036 |
821 | L>F | No |
ClinGen gnomAD |
|
|
CA4147731 rs751268689 |
823 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA4147732 rs757045404 |
823 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs895037134 CA153255449 |
824 | G>E | No |
ClinGen TOPMed |
|
|
rs758116231 CA366731006 |
826 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs758116231 CA4147729 |
826 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1471149066 CA366731000 |
827 | P>T | No |
ClinGen gnomAD |
|
|
CA153255429 rs868768655 |
829 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1449103875 CA366730972 |
831 | V>A | No |
ClinGen gnomAD |
|
|
rs760106512 CA366730974 |
831 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4147726 rs760106512 |
831 | V>M | Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761088991 CA4147723 |
833 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761920023 CA4147721 |
837 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs761920023 CA4147720 |
837 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA4147719 rs150725128 |
838 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1181928002 CA366730935 COSM1090976 |
838 | R>W | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA366730929 rs1429727377 |
839 | V>A | No |
ClinGen TOPMed |
|
|
rs141327139 RCV000907503 CA4147718 |
839 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA4147716 rs200847164 |
840 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200847164 CA4147717 |
840 | N>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs746865554 CA4147714 |
841 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA4147715 rs751061451 |
841 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA366730906 rs1241721590 |
843 | F>L | No |
ClinGen gnomAD |
|
|
rs758116890 CA4147712 |
844 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4147711 rs752238171 |
845 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA366730891 rs1381680446 |
845 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 845 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334911070 CA366730880 |
847 | H>Y | No |
ClinGen gnomAD |
|
|
CA153255305 CA4147708 rs148282284 |
848 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs754391508 CA4147710 |
848 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs754391508 CA4147709 |
848 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs766940588 CA4147707 |
849 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs750837298 CA4147705 |
850 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA4147706 rs143677963 |
850 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA153255297 rs974441443 |
853 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1284796065 CA366730835 |
854 | L>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 856 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774371322 CA4147702 |
856 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366730812 rs1466638652 |
857 | H>Q | No |
ClinGen TOPMed |
|
|
rs1461150307 CA366730804 |
858 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs547471074 CA153255288 |
859 | G>D | No |
ClinGen 1000Genomes |
|
|
rs138117808 CA4147701 |
859 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762999540 CA4147700 |
860 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA153255268 rs972799693 |
861 | Q>* | No |
ClinGen Ensembl |
|
|
CA153255266 rs970746521 |
861 | Q>P | No |
ClinGen Ensembl |
|
|
rs771029566 CA4147698 |
862 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771721295 CA366730779 |
863 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA366730781 rs771721295 |
863 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771721295 CA4147695 |
863 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA4147696 rs777729192 |
863 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA4147694 rs747854533 |
864 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA366730755 rs1299639015 |
865 | R>C | No |
ClinGen gnomAD |
|
|
rs778491862 CA4147693 COSM1090975 |
865 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs754657972 CA4147692 |
866 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1293995044 CA366730730 |
867 | F>R | No |
ClinGen gnomAD |
|
|
rs748840697 CA4147691 |
867 | F>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
1 associated diseases with Q9NWF9
[MIM: 212840]: Gordon Holmes syndrome (GDHS)
A disease characterized by cerebellar symptoms and signs of sex steroid deficiency. Clinical features include cerebellar and brain stem atrophy, cerebellar ataxia, hypothalamic LHRH deficiency, hypogonadotrophic hypogonadism, lack of secondary sexual characteristics, and infertility. {ECO:0000269|PubMed:23656588}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disease characterized by cerebellar symptoms and signs of sex steroid deficiency. Clinical features include cerebellar and brain stem atrophy, cerebellar ataxia, hypothalamic LHRH deficiency, hypogonadotrophic hypogonadism, lack of secondary sexual characteristics, and infertility. {ECO:0000269|PubMed:23656588}. Note=The disease is caused by variants affecting the gene represented in this entry.
4 regional properties for Q9NWF9
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| repeat | Tetratricopeptide repeat | 249 - 282 | IPR019734-1 |
| repeat | Tetratricopeptide repeat | 291 - 324 | IPR019734-2 |
| repeat | Tetratricopeptide repeat | 333 - 366 | IPR019734-3 |
| repeat | Tetratricopeptide repeat | 375 - 408 | IPR019734-4 |
Functions
| Description | ||
|---|---|---|
| EC Number | 2.3.2.27 | Aminoacyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| nucleoplasm | That part of the nuclear content other than the chromosomes or the nucleolus. |
| nucleus | A membrane-bounded organelle of eukaryotic cells in which chromosomes are housed and replicated. In most cells, the nucleus contains all of the cell's chromosomes except the organellar chromosomes, and is the site of RNA synthesis and processing. In some species, or in specialized cell types, RNA metabolism or DNA replication may be absent. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| metal ion binding | Binding to a metal ion. |
| ubiquitin protein ligase activity | Catalysis of the transfer of ubiquitin to a substrate protein via the reaction X-ubiquitin + S -> X + S-ubiquitin, where X is either an E2 or E3 enzyme, the X-ubiquitin linkage is a thioester bond, and the S-ubiquitin linkage is an amide bond: an isopeptide bond between the C-terminal glycine of ubiquitin and the epsilon-amino group of lysine residues in the substrate or, in the linear extension of ubiquitin chains, a peptide bond the between the C-terminal glycine and N-terminal methionine of ubiquitin residues. |
6 GO annotations of biological process
| Name | Definition |
|---|---|
| apoptotic process | A programmed cell death process which begins when a cell receives an internal (e.g. DNA damage) or external signal (e.g. an extracellular death ligand), and proceeds through a series of biochemical events (signaling pathway phase) which trigger an execution phase. The execution phase is the last step of an apoptotic process, and is typically characterized by rounding-up of the cell, retraction of pseudopodes, reduction of cellular volume (pyknosis), chromatin condensation, nuclear fragmentation (karyorrhexis), plasma membrane blebbing and fragmentation of the cell into apoptotic bodies. When the execution phase is completed, the cell has died. |
| negative regulation of type I interferon production | Any process that stops, prevents, or reduces the frequency, rate, or extent of type I interferon production. Type I interferons include the interferon-alpha, beta, delta, episilon, zeta, kappa, tau, and omega gene families. |
| proteasome-mediated ubiquitin-dependent protein catabolic process | The chemical reactions and pathways resulting in the breakdown of a protein or peptide by hydrolysis of its peptide bonds, initiated by the covalent attachment of ubiquitin, and mediated by the proteasome. |
| protein K48-linked ubiquitination | A protein ubiquitination process in which a polymer of ubiquitin, formed by linkages between lysine residues at position 48 of the ubiquitin monomers, is added to a protein. K48-linked ubiquitination targets the substrate protein for degradation. |
| regulation of defense response to virus by host | Any host process that modulates the frequency, rate, or extent of the antiviral response of a host cell or organism. |
| regulation of interferon-beta production | Any process that modulates the frequency, rate, or extent of interferon-beta production. |
4 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| O76924 | ari-2 | Potential E3 ubiquitin-protein ligase ariadne-2 | Drosophila melanogaster (Fruit fly) | SS |
| O95376 | ARIH2 | E3 ubiquitin-protein ligase ARIH2 | Homo sapiens (Human) | EV |
| Q9Z1K6 | Arih2 | E3 ubiquitin-protein ligase ARIH2 | Mus musculus (Mouse) | SS |
| Q22431 | ari-2 | Potential E3 ubiquitin-protein ligase ariadne-2 | Caenorhabditis elegans | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEEGNNNEEV | IHLNNFHCHR | GQEWINLRDG | PITISDSSDE | ERIPMLVTPA | PQQHEEEDLD |
| 70 | 80 | 90 | 100 | 110 | 120 |
| DDVILTEDDS | EDDYGEFLDL | GPPGISEFTK | PSGQTEREPK | PGPSHNQAAN | DIVNPRSEQK |
| 130 | 140 | 150 | 160 | 170 | 180 |
| VIILEEGSLL | YTESDPLETQ | NQSSEDSETE | LLSNLGESAA | LADDQAIEED | CWLDHPYFQS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LNQQPREITN | QVVPQERQPE | AELGRLLFQH | EFPGPAFPRP | EPQQGGISGP | SSPQPAHPLG |
| 250 | 260 | 270 | 280 | 290 | 300 |
| EFEDQQLASD | DEEPGPAFPM | QESQEPNLEN | IWGQEAAEVD | QELVELLVKE | TEARFPDVAN |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GFIEEIIHFK | NYYDLNVLCN | FLLENPDYPK | REDRIIINPS | SSLLASQDET | KLPKIDFFDY |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SKLTPLDQRC | FIQAADLLMA | DFKVLSSQDI | KWALHELKGH | YAITRKALSD | AIKKWQELSP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| ETSGKRKKRK | QMNQYSYIDF | KFEQGDIKIE | KRMFFLENKR | RHCRSYDRRA | LLPAVQQEQE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| FYEQKIKEMA | EHEDFLLALQ | MNEEQYQKDG | QLIECRCCYG | EFPFEELTQC | ADAHLFCKEC |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LIRYAQEAVF | GSGKLELSCM | EGSCTCSFPT | SELEKVLPQT | ILYKYYERKA | EEEVAAAYAD |
| 610 | 620 | 630 | 640 | 650 | 660 |
| ELVRCPSCSF | PALLDSDVKR | FSCPNPHCRK | ETCRKCQGLW | KEHNGLTCEE | LAEKDDIKYR |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TSIEEKMTAA | RIRKCHKCGT | GLIKSEGCNR | MSCRCGAQMC | YLCRVSINGY | DHFCQHPRSP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GAPCQECSRC | SLWTDPTEDD | EKLIEEIQKE | AEEEQKRKNG | ENTFKRIGPP | LEKPVEKVQR |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VEALPRPVPQ | NLPQPQMPPY | AFAHPPFPLP | PVRPVFNNFP | LNMGPIPAPY | VPPLPNVRVN |
| 850 | 860 | ||||
| YDFGPIHMPL | EHNLPMHFGP | QPRHRF |