Q6P1N0
PR
Gene name |
CC2D1A (AKI1) |
Protein name |
Coiled-coil and C2 domain-containing protein 1A |
Names |
Akt kinase-interacting protein 1, Five prime repressor element under dual repression-binding protein 1, FRE under dual repression-binding protein 1, Freud-1, Putative NF-kappa-B-activating protein 023N |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:54862 |
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
1 structures for Q6P1N0
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q6P1N0-F1 | Predicted | AlphaFoldDB |
859 variants for Q6P1N0
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV002313587 CA305608877 rs1011061003 |
6 | G>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001267157 rs775951098 CA9244135 |
19 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs368933699 RCV001766581 CA9244186 RCV002318812 |
50 | A>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs192358667 CA9244248 RCV000974304 RCV000499916 RCV002314862 |
105 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1568405628 RCV000785142 CA404376261 |
109 | E>K | Intellectual disability, autosomal recessive 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA404376291 RCV002312374 rs1568405653 |
111 | L>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA9244270 RCV002312405 rs750108401 |
127 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001420563 rs202025962 CA9244293 RCV002318030 |
154 | A>T | Intellectual disability, autosomal recessive 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs781491587 RCV001027984 CA9244299 |
164 | R>W | Intellectual disability, autosomal recessive 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003145511 rs542798158 RCV001293570 CA9244338 |
181 | R>H | Intellectual disability, autosomal recessive 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002313863 RCV000955031 RCV002505040 rs61740117 CA152202 RCV000116595 |
189 | A>V | Intellectual disability, autosomal recessive 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002316878 CA9244352 rs375001092 |
202 | A>V | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002313518 CA9244360 rs758876461 |
210 | A>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002316842 CA404378649 rs1394531439 |
223 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs181548764 CA9244383 RCV000912042 RCV002314522 |
233 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9244390 RCV002316860 rs770891005 |
238 | S>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9244435 RCV002318776 rs368763604 |
289 | V>M | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs73922801 CA9244462 RCV000428246 RCV002314125 |
302 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9244486 RCV002527211 RCV000501915 rs765282375 |
320 | P>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200121704 COSM565136 RCV002490789 CA152204 RCV002313864 RCV000432586 RCV000116596 |
327 | S>L | lung Intellectual disability, autosomal recessive 3 Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA305622571 rs781498477 RCV001333957 |
331 | T>I | Intellectual disability, autosomal recessive 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA207119 rs201374643 RCV003144156 RCV002381651 RCV000193558 |
333 | A>T | Intellectual disability, autosomal recessive 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002312058 RCV000116585 CA152188 VAR_026670 rs11883041 |
339 | T>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001196193 rs774357851 CA9244522 |
358 | R>W | Intellectual disability, autosomal recessive 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA9244528 rs201420492 RCV001270123 RCV002313526 |
365 | Q>H | Intellectual disability, autosomal recessive 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002336250 RCV001332173 CA230956 rs201177183 RCV000116586 |
398 | V>M | Intellectual disability, autosomal recessive 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs191830054 RCV002311291 CA208112 RCV000434443 RCV000662088 RCV000194140 |
412 | I>V | Intellectual disability, autosomal recessive 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs749470672 RCV002314504 CA9244634 |
441 | G>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002485806 RCV001093045 CA9244636 rs199644216 RCV002313509 |
449 | V>M | Intellectual disability, autosomal recessive 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002317673 rs369094911 CA205906 RCV000192817 |
463 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002390867 rs199717745 RCV002279733 CA9244662 RCV000887266 |
467 | P>A | Intellectual disability, autosomal recessive 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1971376706 RCV001266127 |
472 | Q>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000193855 RCV001576400 RCV001336388 RCV002311292 RCV001252185 rs143529486 CA207615 |
475 | S>L | Intellectual disability Intellectual disability, autosomal recessive 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001333953 rs201665162 CA9244670 |
481 | A>V | Variant assessed as Somatic; 0.0 impact. Intellectual disability, autosomal recessive 3 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
COSM1740517 CA209983 RCV002314793 RCV003144155 RCV001252184 rs201884654 RCV001551328 RCV000195277 |
483 | P>H | Intellectual disability Intellectual disability, autosomal recessive 3 haematopoietic_and_lymphoid_tissue Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001267085 CA9244711 rs756583934 |
516 | D>N | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9244723 RCV001332174 RCV000500485 rs529368098 |
533 | M>V | Intellectual disability, autosomal recessive 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001262582 rs1971392241 |
542 | P>missing | Intellectual disability, autosomal recessive 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs75601897 RCV000116589 CA152192 RCV000881659 RCV002313861 |
545 | I>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001333955 rs1971475798 |
556 | D>N | Intellectual disability, autosomal recessive 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9244771 RCV000942638 rs61748827 RCV002400081 |
575 | R>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9244772 RCV001332175 rs760191095 |
575 | R>H | Intellectual disability, autosomal recessive 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002313862 CA152194 RCV000224917 RCV000491268 rs202057391 RCV000785141 RCV000116590 |
580 | T>I | Smith-Magenis Syndrome-like Intellectual disability, autosomal recessive 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9244777 RCV000926225 rs34204315 RCV002409190 |
584 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA9244831 rs368857635 RCV000502288 RCV002527212 |
613 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs746894472 CA9244876 RCV001332176 |
650 | P>S | Variant assessed as Somatic; 0.0 impact. Intellectual disability, autosomal recessive 3 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001266125 RCV002486012 rs775641463 CA9244881 |
656 | D>N | Intellectual disability, autosomal recessive 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs763194652 RCV002318643 CA9244882 |
657 | M>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000500751 RCV001755738 RCV002420274 CA9244889 rs747760233 |
666 | N>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002316160 rs201844043 CA9244903 |
676 | G>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000193248 rs201251295 CA206604 RCV001252183 RCV000612390 RCV002314794 |
683 | R>Q | Intellectual disability Intellectual disability, autosomal recessive 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9244913 rs780097665 RCV002537656 RCV001263387 |
691 | V>M | Intellectual disability Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA404395888 rs1194702277 RCV001196194 COSM259943 |
720 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine Intellectual disability, autosomal recessive 3 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs369325449 CA9244997 RCV002315475 |
755 | Q>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002313515 CA9245041 rs765614427 |
778 | R>W | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000764187 rs77389229 RCV001093046 RCV000192312 CA205053 |
781 | G>A | Intellectual disability, autosomal recessive 3 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs77389229 CA9245043 RCV000912249 RCV002445012 |
781 | G>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9245052 RCV000910328 rs200354654 RCV000503930 RCV002455966 |
791 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002312060 RCV000116591 RCV001554356 VAR_026672 CA152196 rs2305777 |
801 | T>M | Intellectual disability, autosomal recessive 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA9245058 RCV002316752 RCV000962695 rs199683318 COSM1196223 |
810 | D>E | lung Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000419467 CA9245061 RCV002314131 rs56359259 RCV000501181 |
814 | A>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002431941 rs187418052 RCV001332177 CA9245098 |
832 | A>G | Intellectual disability, autosomal recessive 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA9245102 rs34146052 RCV002431473 RCV000514402 |
836 | E>D | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002314396 rs768143902 CA9245163 |
870 | R>Q | Variant assessed as Somatic; 0.0 impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs201921029 RCV000892683 RCV001267084 RCV001333956 CA9245172 RCV000502989 RCV000491719 |
886 | R>H | Smith-Magenis Syndrome-like Intellectual disability, autosomal recessive 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001264805 rs1423002835 |
898 | G>missing | Intellectual disability, autosomal recessive 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA9245183 RCV002314583 rs771686309 |
903 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002426661 RCV002483194 CA230960 RCV000116593 rs376443152 |
903 | R>W | Intellectual disability, autosomal recessive 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001682805 RCV000116594 RCV001554357 CA152200 rs11669628 RCV002312062 |
906 | A>T | Intellectual disability, autosomal recessive 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs767908962 CA205258 RCV002517059 RCV000192433 |
910 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9245196 rs200848845 RCV002314865 RCV000499587 |
911 | R>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000193440 CA206936 RCV003159107 RCV000764188 rs199893133 RCV002433864 COSM329226 |
922 | R>C | Intellectual disability, autosomal recessive 3 haematopoietic_and_lymphoid_tissue Inborn genetic diseases [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000996805 rs576457697 RCV002434381 CA9245211 RCV003145249 |
926 | D>H | Intellectual disability, autosomal recessive 3 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs376977180 CA9244128 |
2 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376977180 CA404371546 |
2 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1245443754 CA404371634 |
5 | K>E | No |
ClinGen gnomAD |
|
|
CA404371700 rs1372068486 |
7 | P>L | No |
ClinGen TOPMed |
|
|
CA404371703 rs1221156966 |
8 | P>S | No |
ClinGen gnomAD |
|
|
rs1489105685 CA404371745 |
9 | G>E | No |
ClinGen gnomAD |
|
|
rs1190562892 CA404371718 |
9 | G>R | No |
ClinGen TOPMed |
|
|
rs779383118 CA305608883 |
10 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9244132 rs779383118 |
10 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305608892 rs1020811117 |
11 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404371837 rs1166152440 |
12 | G>V | No |
ClinGen gnomAD |
|
|
rs868588288 CA305608893 |
14 | G>V | No |
ClinGen Ensembl |
|
|
CA9244134 rs772661784 |
15 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA404371937 rs1402087053 |
16 | A>T | No |
ClinGen gnomAD |
|
|
rs1296052456 CA404371957 |
16 | A>V | No |
ClinGen gnomAD |
|
|
rs1314746988 CA404371998 |
18 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9244136 rs759096818 |
19 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs769502013 CA9244137 |
20 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs752935035 CA9244168 |
21 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1327528567 CA404373218 |
22 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA305612100 rs949890148 |
26 | D>H | No |
ClinGen TOPMed |
|
|
rs1045517051 CA305612116 |
27 | L>F | No |
ClinGen TOPMed |
|
|
CA404373322 rs1344541205 |
28 | S>Y | No |
ClinGen gnomAD |
|
|
CA404373345 rs1599377699 |
30 | D>Y | No |
ClinGen Ensembl |
|
|
CA404373361 rs1279239726 |
31 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1479359673 CA404373428 |
34 | I>M | No |
ClinGen TOPMed |
|
|
CA404373434 rs1272331809 |
35 | P>S | No |
ClinGen gnomAD |
|
|
CA305612126 rs1001445501 |
36 | E>A | No |
ClinGen TOPMed |
|
|
CA305612156 rs774058378 CA9244177 |
38 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
rs375971219 CA9244181 |
41 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs771963034 CA9244179 |
41 | D>N | Variant assessed as Somatic; 5.105e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9244180 rs773005417 |
41 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA9244183 rs776630342 |
46 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760634655 CA9244184 |
46 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368933699 CA9244187 |
50 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404373714 rs1474224980 |
51 | L>F | No |
ClinGen gnomAD |
|
|
CA305612264 rs578166433 |
53 | G>E | No |
ClinGen Ensembl |
|
|
rs752002689 CA9244189 COSM3783186 |
53 | G>R | Variant assessed as Somatic; 0.0 impact. prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1214437987 CA404373814 |
56 | P>S | No |
ClinGen TOPMed |
|
|
rs1271959798 CA404373873 |
60 | E>K | No |
ClinGen TOPMed |
|
|
rs1380606149 CA404373919 |
61 | K>T | No |
ClinGen gnomAD |
|
|
rs1599377912 CA404373965 |
63 | K>R | No |
ClinGen Ensembl |
|
|
CA404373987 rs1289685447 |
64 | G>R | No |
ClinGen gnomAD |
|
|
CA9244203 rs538906450 |
66 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9244204 rs763194296 |
69 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1279084558 CA404375284 |
70 | M>I | No |
ClinGen gnomAD |
|
|
CA9244206 rs751914714 |
70 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs956392367 CA305614442 |
70 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9244207 rs554083988 |
71 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404375322 rs1242504948 |
72 | A>G | No |
ClinGen gnomAD |
|
|
CA404375304 rs1201728258 |
72 | A>T | No |
ClinGen gnomAD |
|
|
CA404375368 rs1439755018 |
73 | I>T | No |
ClinGen gnomAD |
|
|
rs987832642 CA305614447 |
73 | I>V | No |
ClinGen Ensembl |
|
|
rs1259017721 CA404375501 |
76 | M>T | No |
ClinGen gnomAD |
|
|
rs201435428 CA305614559 |
77 | A>T | No |
ClinGen 1000Genomes |
|
|
rs1158293571 CA404375577 |
80 | C>S | No |
ClinGen gnomAD |
|
|
CA9244210 CA404375661 rs754426299 |
81 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA305614576 rs1022493160 |
81 | M>K | No |
ClinGen TOPMed |
|
|
CA305614587 rs1022493160 |
81 | M>T | No |
ClinGen TOPMed |
|
|
rs751031420 CA9244209 |
81 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1406054940 CA404375664 |
82 | R>G | No |
ClinGen gnomAD |
|
|
CA404375672 rs1447591064 |
82 | R>T | No |
ClinGen gnomAD |
|
|
CA9244211 rs184172956 |
84 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA208553 RCV000194404 rs797045436 |
84 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1255253288 CA404375759 |
85 | D>A | No |
ClinGen TOPMed |
|
|
rs946573166 CA305614608 |
85 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1275179452 CA404375793 CA404375791 |
86 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA305614614 rs1042172912 |
86 | E>K | No |
ClinGen TOPMed |
|
|
CA404375819 rs1325384088 |
87 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA305614643 rs1003395322 |
89 | E>K | No |
ClinGen TOPMed |
|
|
CA9244214 rs777403741 |
90 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1199905329 CA404375896 |
91 | G>R | No |
ClinGen gnomAD |
|
|
CA9244217 rs35098354 |
92 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1379047700 CA404375936 |
93 | D>Y | No |
ClinGen gnomAD |
|
|
RCV000911534 rs187912873 CA9244218 |
95 | D>E | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA9244220 rs775590696 |
96 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316058958 CA404376056 |
99 | A>V | No |
ClinGen TOPMed |
|
|
rs762956164 CA305614704 |
100 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA9244221 rs762956164 |
100 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs768857264 CA9244222 |
101 | D>G | No |
ClinGen ExAC gnomAD |
|
| rs199500012 | 105 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404376220 rs1417764953 |
105 | A>T | No |
ClinGen TOPMed |
|
|
CA9244250 rs756854159 |
106 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188722671 CA404376267 |
109 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1188722671 CA404376269 |
109 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1419131873 CA404376277 |
110 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA9244252 rs750166752 |
115 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188270446 CA404376427 |
121 | P>L | No |
ClinGen gnomAD |
|
|
CA404376451 rs1422927622 |
123 | P>L | No |
ClinGen gnomAD |
|
|
rs767142967 CA9244269 |
127 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451278628 CA404376586 |
129 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs753687541 CA9244273 |
132 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA9244274 rs754922499 |
133 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778995352 CA9244275 |
134 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs752762778 CA9244276 |
135 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 136 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9244277 rs758622330 |
137 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747247080 CA9244279 |
143 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs771209050 CA9244280 |
143 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA9244283 rs201408291 |
145 | A>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9244281 rs201408291 |
145 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9244282 rs201408291 |
145 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776035620 CA9244284 |
148 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs761307774 CA9244285 |
148 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9244286 rs771608725 |
149 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771608725 CA9244287 |
149 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404376902 rs1250660719 |
150 | A>V | No |
ClinGen gnomAD |
|
|
CA404376921 rs1355801425 |
151 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1043330546 CA305615458 |
151 | I>V | No |
ClinGen Ensembl |
|
|
rs868830222 CA305615471 |
152 | E>D | No |
ClinGen Ensembl |
|
|
CA404376944 rs1297225816 |
152 | E>G | No |
ClinGen gnomAD |
|
|
rs202025962 CA305615480 |
154 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9244294 rs202025962 |
154 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 155 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1481794424 CA404376995 |
156 | Q>* | No |
ClinGen TOPMed |
|
|
CA404377006 rs1285586025 |
157 | A>T | No |
ClinGen gnomAD |
|
|
rs777668733 CA9244296 |
160 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs200884173 CA404377058 |
161 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9244298 rs200884173 |
161 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9244300 rs369479851 |
164 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs919803855 CA305615532 COSM991767 |
165 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs780507381 CA9244302 |
165 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA404377126 rs1049936910 |
166 | Y>H | No |
ClinGen gnomAD |
|
|
rs1049936910 CA305615559 |
166 | Y>N | No |
ClinGen gnomAD |
|
|
CA404377156 rs1407698947 |
167 | D>E | No |
ClinGen gnomAD |
|
|
CA9244304 rs769227024 |
167 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769227024 CA404377145 |
167 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404377160 rs1169212729 |
168 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA9244305 rs559696209 |
168 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs1169212729 CA404377162 |
168 | R>W | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 169 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1156349174 CA404377994 |
172 | T>P | No |
ClinGen TOPMed |
|
|
rs1243717554 CA404378025 |
174 | E>K | No |
ClinGen gnomAD |
|
|
CA404378044 rs1599383036 |
175 | N>T | No |
ClinGen Ensembl |
|
|
CA9244332 rs762822647 |
176 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA404378072 rs1384150995 |
177 | L>H | No |
ClinGen gnomAD |
|
|
CA9244333 rs763925731 |
177 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1212621128 CA404378084 |
178 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA404378083 rs553083730 |
178 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9244335 rs553083730 |
178 | A>T | Variant assessed as Somatic; 4.643e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1212621128 CA404378088 |
178 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9244336 rs370809399 |
181 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs542798158 CA9244337 |
181 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320441958 CA404378148 |
182 | K>T | No |
ClinGen gnomAD |
|
|
rs1207034265 CA404378172 |
183 | G>V | No |
ClinGen TOPMed |
|
|
rs1340033935 CA404378237 |
187 | D>N | No |
ClinGen gnomAD |
|
|
rs779279312 CA404378250 |
188 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779279312 CA9244342 |
188 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel rs1599383199 CA404378299 |
191 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
CA9244344 rs780812392 |
192 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769514467 CA9244346 |
193 | P>L | Variant assessed as Somatic; 0.0001392 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1172575328 CA404378314 |
194 | P>S | No |
ClinGen TOPMed |
|
|
rs969631133 CA305615783 |
197 | I>R | No |
ClinGen TOPMed gnomAD |
|
|
rs969631133 CA305615780 |
197 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs140981157 CA9244349 |
199 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs367739982 CA9244350 |
201 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs367739982 CA305615795 |
201 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9244353 rs375001092 |
202 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9244355 rs535774165 |
203 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305615830 rs535774165 |
203 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs919856220 CA305615832 |
204 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs919856220 CA404378369 |
204 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1334272452 CA404378403 |
209 | P>L | No |
ClinGen gnomAD |
|
|
rs765592472 CA9244358 |
209 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs778439512 CA9244361 |
210 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268287078 CA404378411 |
211 | P>T | No |
ClinGen TOPMed |
|
|
CA9244362 rs749941686 |
212 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA404378430 rs749941686 |
212 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA404378458 rs1339453168 |
213 | Q>H | No |
ClinGen gnomAD |
|
|
CA9244365 rs749018117 |
214 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404378494 rs749018117 |
214 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9244367 rs778727286 |
215 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1181836732 CA404378519 |
216 | P>S | No |
ClinGen gnomAD |
|
|
CA404378590 rs771935649 |
219 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771935649 CA9244369 |
219 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9244370 rs773188635 COSM991768 |
219 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1169728912 CA404378621 |
221 | A>V | No |
ClinGen gnomAD |
|
|
CA9244374 rs374978922 |
225 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1170101390 CA404378712 |
225 | R>K | No |
ClinGen TOPMed |
|
|
rs765385345 CA404378722 |
226 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs765385345 CA9244375 |
226 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs755662350 CA9244380 |
229 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765864637 CA404378809 |
230 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765864637 CA9244381 |
230 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1340956230 CA404378798 |
230 | G>R | No |
ClinGen gnomAD |
|
|
rs1027314638 CA305615967 |
231 | P>T | No |
ClinGen Ensembl |
|
|
CA404378865 rs1599383588 |
234 | T>P | No |
ClinGen Ensembl |
|
|
rs960047029 CA404378890 |
235 | A>P | No |
ClinGen TOPMed |
|
|
rs960047029 CA9244385 |
235 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1429642532 CA404378901 |
235 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 237 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9244388 rs777653920 |
237 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9244389 rs746903349 |
237 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs776709273 CA9244391 |
239 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA305616065 rs1013213460 |
243 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9244392 rs564008874 |
246 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1023824515 CA305616086 |
246 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 246 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs556056976 CA9244394 CA404379079 |
247 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763378837 CA9244395 |
247 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs556056976 CA9244393 |
247 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764603561 CA9244396 |
248 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316704840 CA404379147 |
249 | P>L | No |
ClinGen gnomAD |
|
|
CA9244411 rs769805128 |
250 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA9244412 rs775760317 |
252 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs749472369 CA9244413 |
255 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA404380912 rs1156767805 |
256 | P>S | No |
ClinGen gnomAD |
|
|
rs1599389126 CA404380943 |
258 | A>T | No |
ClinGen Ensembl |
|
|
rs769030157 CA9244414 |
259 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA404380987 rs1331106672 |
259 | Q>L | No |
ClinGen TOPMed |
|
|
CA9244415 rs774787963 |
263 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1039025699 CA305622176 |
263 | R>H | No |
ClinGen gnomAD |
|
|
CA404381136 rs1446711308 |
264 | Q>H | No |
ClinGen gnomAD |
|
|
rs561344043 CA9244417 |
265 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA9244418 rs773656208 |
265 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs561344043 CA9244416 |
265 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA9244421 rs377442901 |
266 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9244420 rs377442901 |
266 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404381262 rs1350359838 |
268 | K>N | No |
ClinGen gnomAD |
|
|
CA9244422 rs762530467 |
269 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA404381297 rs1181999458 |
270 | A>T | No |
ClinGen TOPMed |
|
|
rs763752291 CA9244423 |
271 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763752291 CA404381331 |
271 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9244425 rs757068406 |
273 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA9244426 rs781155196 |
274 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404381522 rs1480662745 |
276 | Q>H | No |
ClinGen gnomAD |
|
|
CA9244427 rs750377782 |
276 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 278 | G>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1201471506 CA404381586 |
279 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 280 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1599389298 CA404381651 |
281 | T>S | No |
ClinGen Ensembl |
|
|
CA404381698 rs1423043528 |
283 | A>T | No |
ClinGen gnomAD |
|
|
rs779635033 CA305622230 |
284 | A>D | No |
ClinGen Ensembl |
|
|
rs780240429 CA9244429 |
284 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749382716 CA9244430 |
286 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404381823 rs565950139 CA9244431 |
287 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9244432 rs748702458 |
288 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9244433 rs748515137 |
288 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761034947 CA9244436 |
289 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs1218653410 CA404381869 |
290 | A>S | No |
ClinGen gnomAD |
|
|
rs80169736 CA305622264 |
290 | A>V | No |
ClinGen Ensembl |
|
|
rs774927517 CA9244438 |
291 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA404381893 rs1302388207 |
291 | K>R | No |
ClinGen TOPMed |
|
|
rs761333372 CA9244459 |
292 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA305622379 rs867466225 |
294 | D>E | No |
ClinGen Ensembl |
|
|
CA404382070 rs1446096043 |
295 | A>G | No |
ClinGen gnomAD |
|
|
rs1278560480 CA404382063 |
295 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs904856105 CA305622383 |
296 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA404382101 rs1405190068 |
298 | E>D | No |
ClinGen gnomAD |
|
|
CA404382117 rs1391551714 |
301 | S>G | No |
ClinGen gnomAD |
|
|
CA9244460 rs541500407 |
301 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404382122 rs1169801358 |
301 | S>R | No |
ClinGen TOPMed |
|
|
rs772823974 CA9244461 |
302 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA404382128 rs1454814039 |
303 | G>C | No |
ClinGen gnomAD |
|
|
CA9244463 rs530533895 |
304 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1390872 rs753863476 CA9244464 |
306 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1599390077 CA404382158 |
307 | D>A | No |
ClinGen Ensembl |
|
|
CA305622399 rs755081945 |
307 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA305622405 rs964409389 |
308 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1599390096 CA404382177 |
309 | S>P | No |
ClinGen Ensembl |
|
|
rs866968334 CA305622417 |
312 | P>S | No |
ClinGen TOPMed |
|
|
CA404382211 rs1472671504 |
313 | P>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 314 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765356081 CA9244467 |
314 | P>T | No |
ClinGen ExAC gnomAD |
|
| rs778117971 | 315 | P>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9244468 rs752849813 |
315 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA9244469 rs371171727 |
315 | P>R | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 316 | D>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404382271 rs1568411195 |
316 | D>A | No |
ClinGen Ensembl |
|
|
CA404382239 rs1158465072 |
316 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA404382235 COSM3692402 rs1158465072 |
316 | D>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA404382274 rs1568411195 |
316 | D>V | No |
ClinGen Ensembl |
|
|
CA404382281 rs1211517707 |
317 | Q>E | No |
ClinGen TOPMed |
|
|
CA404382293 rs1488530956 |
318 | L>M | No |
ClinGen TOPMed |
|
|
rs765282375 CA9244487 |
320 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs900587111 CA305622525 |
321 | D>A | No |
ClinGen Ensembl |
|
|
rs758574171 CA9244489 |
321 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs986781288 CA305622544 |
323 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA404382412 rs1318690150 |
330 | P>R | No |
ClinGen TOPMed |
|
|
rs547816872 CA305622554 |
331 | T>P | No |
ClinGen 1000Genomes |
|
|
rs781498477 CA9244491 |
331 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000503678 CA9244492 rs756554308 |
334 | T>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs771652291 CA9244495 |
335 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9244497 rs746607724 |
336 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9244501 rs372403900 |
340 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9244500 rs372403900 |
340 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369829647 CA305622692 |
341 | V>M | No |
ClinGen ESP gnomAD |
|
|
rs1314481770 CA404382562 |
343 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9244515 rs558746804 |
343 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781060128 CA404382578 |
344 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781060128 CA9244516 |
344 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 344 | P>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305622702 rs868611556 |
345 | P>A | No |
ClinGen Ensembl |
|
|
CA404382589 rs745631694 |
345 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs745631694 CA9244517 |
345 | P>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 345 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 346 | R>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404382608 rs1599391039 |
347 | T>P | No |
ClinGen Ensembl |
|
|
CA404382645 rs1599391060 |
349 | L>R | No |
ClinGen Ensembl |
|
|
rs775171615 CA9244519 |
350 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs576388238 CA404382685 |
351 | A>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs576388238 CA9244520 |
351 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA404382703 rs1186590850 |
353 | E>Q | No |
ClinGen gnomAD |
|
|
CA404382773 rs1364255811 COSM3822084 |
355 | R>Q | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1182602227 CA404382757 |
355 | R>W | No |
ClinGen TOPMed |
|
|
rs1440402522 CA404382780 |
356 | M>V | No |
ClinGen TOPMed |
|
|
CA9244523 rs761937379 |
358 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767721110 CA9244524 |
360 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1376521667 CA404382937 |
361 | V>G | No |
ClinGen gnomAD |
|
|
COSM438701 CA9244525 rs750684031 |
361 | V>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1394592792 CA404382998 COSM3692403 |
362 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1351594717 CA404383005 |
363 | A>T | No |
ClinGen gnomAD |
|
|
CA9244527 rs766712869 |
364 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404383125 rs1568411702 |
368 | S>T | No |
ClinGen Ensembl |
|
|
CA404383214 rs1210998038 |
371 | D>E | No |
ClinGen gnomAD |
|
|
rs755444041 CA9244529 |
371 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA404383253 rs779297750 |
372 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA404383280 rs1482409302 |
373 | R>L | No |
ClinGen gnomAD |
|
|
CA9244531 rs369429952 |
375 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756869849 CA9244532 |
376 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA404383450 rs1433192585 |
379 | E>G | No |
ClinGen gnomAD |
|
|
CA9244534 rs745472910 |
379 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs769364533 CA9244535 |
380 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1357021858 CA404383472 |
380 | R>H | No |
ClinGen gnomAD |
|
|
CA9244538 rs768626420 |
381 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1412124520 CA404383529 |
382 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA404383521 rs1412124520 |
382 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs996720493 CA305622769 |
383 | K>R | No |
ClinGen Ensembl |
|
|
rs1218785052 CA404383780 |
387 | D>E | No |
ClinGen gnomAD |
|
|
CA404383777 rs1207739757 |
387 | D>G | No |
ClinGen TOPMed |
|
|
rs1365549645 CA404383764 |
387 | D>N | No |
ClinGen gnomAD |
|
|
rs747069374 CA9244564 |
388 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs771168246 CA9244565 |
390 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA9244566 rs771168246 |
390 | R>G | No |
ClinGen ExAC gnomAD |
|
|
COSM1390873 CA9244567 rs759926288 |
390 | R>Q | Variant assessed as Somatic; 0.0 impact. large_intestine stomach [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA |
|
CA404383870 rs1291658149 |
392 | H>Q | No |
ClinGen TOPMed |
|
|
CA9244568 rs765651799 |
393 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs780579435 CA305622864 |
394 | A>T | No |
ClinGen Ensembl |
|
|
CA9244569 rs200221980 |
394 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA404383929 rs1322143140 |
395 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 396 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404383945 rs763487646 |
396 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA404383950 rs1240076813 |
396 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs764712093 CA404383962 |
397 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs764712093 COSM3378622 CA9244571 |
397 | A>T | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA9244574 rs766021396 |
398 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA404384028 CA305622892 rs201177183 |
398 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 399 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404384103 rs1306027537 |
399 | D>Y | No |
ClinGen TOPMed |
|
|
rs1249442677 CA404384142 |
400 | V>F | No |
ClinGen gnomAD |
|
|
CA404384136 rs1249442677 |
400 | V>I | No |
ClinGen gnomAD |
|
|
CA305622900 rs1008424382 |
401 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA404384192 rs1322768935 |
402 | E>Q | No |
ClinGen TOPMed |
|
|
CA9244575 rs753482643 |
404 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404384256 rs1599391785 |
404 | P>S | No |
ClinGen Ensembl |
|
|
rs1348717417 CA404384296 |
405 | V>G | No |
ClinGen gnomAD |
|
|
CA305622910 CA9244577 rs778636075 |
405 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404384282 rs778636075 |
405 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1440188188 CA404384318 |
407 | P>A | No |
ClinGen gnomAD |
|
| TCGA novel | 407 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 407 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9244617 rs770128224 |
410 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404385515 rs769189689 |
411 | P>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769189689 CA9244620 |
411 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9244619 rs780491820 |
411 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9244618 rs780491820 |
411 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9244621 rs191830054 |
412 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9244622 rs774392241 |
412 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs766223636 | 412 | I>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9244623 rs775942694 |
414 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1339347608 CA404385739 |
421 | T>P | No |
ClinGen Ensembl |
|
|
CA305623382 rs905865043 |
422 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA404385803 rs1471611093 |
424 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA404385796 rs1471611093 |
424 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1416413661 CA404385861 |
426 | V>A | No |
ClinGen gnomAD |
|
|
rs200445152 CA9244628 |
426 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9244627 rs200445152 |
426 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751378122 CA9244629 |
427 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9244630 rs781249497 |
428 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404386018 rs1237637842 |
434 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 436 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780399629 CA9244633 |
436 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483042459 CA404386077 |
436 | A>V | No |
ClinGen TOPMed |
|
|
rs1273067288 CA404386116 |
438 | Q>* | No |
ClinGen TOPMed |
|
| TCGA novel | 445 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 446 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 448 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9244635 rs755258230 |
448 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA404386596 rs1295012032 |
453 | Q>R | No |
ClinGen gnomAD |
|
|
rs1266484672 CA404386697 |
457 | V>M | No |
ClinGen gnomAD |
|
|
rs376653249 CA305623776 |
458 | A>S | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 459 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305623780 rs1048258471 |
459 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
RCV000195167 CA209808 rs747475649 |
460 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA404386795 rs1190736419 |
461 | A>P | No |
ClinGen gnomAD |
|
|
rs771432946 CA9244659 |
463 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9244660 rs748891417 |
466 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1568413468 CA404386940 |
466 | P>S | No |
ClinGen Ensembl |
|
|
rs755514307 CA305623817 |
467 | P>L | No |
ClinGen gnomAD |
|
|
rs1383802586 CA404386989 |
468 | S>* | No |
ClinGen gnomAD |
|
|
rs767291226 CA9244664 |
469 | R>T | No |
ClinGen ExAC |
|
|
rs773170398 CA9244665 |
471 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA404387126 rs1313915688 |
472 | Q>H | No |
ClinGen gnomAD |
|
|
rs369142336 CA9244666 |
473 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1157832326 CA404387130 |
473 | S>P | No |
ClinGen TOPMed |
|
|
CA9244668 rs753953933 |
474 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753953933 CA404387162 |
474 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404387204 rs1259124350 |
476 | A>G | No |
ClinGen gnomAD |
|
|
rs1485677160 CA404387225 |
477 | P>L | No |
ClinGen gnomAD |
|
|
rs878972868 CA305623843 |
480 | K>N | No |
ClinGen Ensembl |
|
|
CA9244671 rs201665162 |
481 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404387363 rs1474132013 |
482 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1474132013 CA404387361 |
482 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA404387397 rs201884654 |
483 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9244673 rs201884654 |
483 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs748720593 CA9244675 |
485 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404387458 rs1156339163 |
486 | T>I | No |
ClinGen gnomAD |
|
|
CA404387490 rs1362813087 |
487 | S>F | No |
ClinGen gnomAD |
|
|
CA305623877 rs891987217 |
487 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs536027501 CA9244676 |
490 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs536027501 CA404387556 |
490 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9244692 rs557856469 |
490 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9244693 rs750896958 |
495 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA9244694 rs750896958 |
495 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs867960381 CA305623955 |
495 | A>V | No |
ClinGen TOPMed |
|
|
CA9244695 rs778416777 |
496 | F>S | No |
ClinGen ExAC TOPMed |
|
|
CA404387845 rs1346015370 |
498 | E>Q | No |
ClinGen gnomAD |
|
|
CA9244697 rs771832846 |
500 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs777635204 CA9244698 |
500 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9244701 rs776311193 |
502 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759453075 CA9244702 |
502 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404387998 rs1232295793 |
502 | K>Q | No |
ClinGen gnomAD |
|
|
CA404388040 rs776311193 |
502 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404388039 rs776311193 |
502 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404388082 rs1250699184 |
503 | Q>R | No |
ClinGen gnomAD |
|
|
rs769633218 CA9244703 |
504 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA9244704 rs373617776 |
506 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9244705 rs536425398 |
506 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA305624008 rs533095005 |
507 | A>V | No |
ClinGen gnomAD |
|
|
rs1458424428 CA404388194 |
508 | A>T | No |
ClinGen gnomAD |
|
|
CA305624043 rs867408303 |
510 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs908265328 CA305624046 |
512 | K>Q | No |
ClinGen TOPMed |
|
|
rs200797532 RCV000116588 CA230958 |
517 | V>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA404388467 rs561881196 |
518 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404388457 rs1223075289 |
518 | E>G | No |
ClinGen gnomAD |
|
|
rs777543482 CA9244714 |
519 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001770143 RCV000193326 rs797045435 CA206728 |
521 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA9244715 rs746609739 |
521 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA404388570 rs1373268207 |
522 | M>V | No |
ClinGen TOPMed |
|
|
CA9244717 rs372880706 |
525 | R>C | Variant assessed as Somatic; 4.64e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM3692404 CA9244718 rs745708547 |
525 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA404388657 rs1180111779 |
528 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA404388677 rs769765974 |
529 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA9244719 rs769765974 |
529 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1424937718 CA404388660 |
529 | G>R | No |
ClinGen gnomAD |
|
|
rs775333694 CA9244720 |
530 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA9244722 rs768676876 |
531 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA9244721 rs201807541 |
531 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305624120 rs776405222 |
536 | A>G | No |
ClinGen Ensembl |
|
|
rs368565271 CA9244724 |
537 | S>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9244726 rs773609533 |
538 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9244727 rs761008162 |
538 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754444990 CA9244729 |
539 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763655018 CA9244731 |
542 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1483812844 CA404388852 |
543 | V>M | No |
ClinGen gnomAD |
|
|
CA404388868 rs1296523485 |
544 | D>A | No |
ClinGen gnomAD |
|
|
rs1399632549 CA404388878 |
545 | I>V | No |
ClinGen gnomAD |
|
|
rs1416336605 CA404388895 |
546 | T>I | No |
ClinGen gnomAD |
|
|
rs767180596 COSM991769 CA9244751 |
549 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs755824826 CA9244753 |
552 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1333467301 CA404389672 |
554 | N>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 556 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9244754 rs376413698 |
557 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1275012985 CA404389836 |
559 | A>V | No |
ClinGen gnomAD |
|
|
rs1449824501 CA404389858 |
560 | L>P | No |
ClinGen TOPMed |
|
|
rs1169146652 CA404389890 |
562 | Q>H | No |
ClinGen gnomAD |
|
|
CA9244756 rs754893793 |
562 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA9244758 rs748191112 |
563 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9244757 rs373184021 |
563 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9244759 rs376158137 |
564 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750227480 CA305625373 |
566 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 566 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305625370 rs750227480 |
566 | P>R | No |
ClinGen TOPMed |
|
|
rs771188254 CA9244764 |
567 | G>S | No |
ClinGen ExAC |
|
|
rs777124179 CA9244765 |
571 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs776189016 CA9244768 |
573 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs560714416 CA404390161 |
573 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9244767 rs560714416 COSM991771 |
573 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA404390183 rs527913042 |
574 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9244770 rs766901226 |
574 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9244769 rs527913042 |
574 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1568416070 CA404390269 |
576 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1370709302 CA404390307 |
578 | E>D | No |
ClinGen gnomAD |
|
|
CA9244774 rs753623789 |
582 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs374138048 CA9244775 |
583 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9244776 rs201272967 |
584 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9244778 rs372275049 |
585 | Q>H | No |
ClinGen ESP ExAC gnomAD |
|
|
COSM438702 CA9244780 rs747172992 |
588 | E>K | Variant assessed as Somatic; 0.0 impact. oesophagus large_intestine breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA305625761 rs776081773 |
589 | M>K | No |
ClinGen Ensembl |
|
|
CA404390758 rs1568416265 |
590 | C>F | No |
ClinGen Ensembl |
|
|
CA9244808 rs774960536 |
591 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746474610 CA9244809 |
592 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA404390894 rs1236377215 |
596 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs759122571 CA9244812 |
596 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA9244813 rs764881191 |
598 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs775132962 CA9244814 |
601 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1207655178 CA404391006 |
604 | T>I | No |
ClinGen TOPMed |
|
|
CA404391038 rs1195945275 |
607 | T>I | No |
ClinGen gnomAD |
|
|
CA404391553 rs1599399080 |
609 | F>V | No |
ClinGen Ensembl |
|
|
rs1429033772 CA404391633 |
612 | L>F | No |
ClinGen TOPMed |
|
|
CA305627578 rs201213462 |
616 | C>R | No |
ClinGen Ensembl |
|
| TCGA novel | 617 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761789432 CA9244835 |
618 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774024247 CA9244834 |
618 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404391813 rs1202398595 |
620 | M>I | No |
ClinGen gnomAD |
|
|
rs1401694683 CA404391802 |
620 | M>V | No |
ClinGen gnomAD |
|
|
rs969309271 CA305627596 |
621 | D>H | No |
ClinGen Ensembl |
|
|
CA9244836 rs767623659 |
622 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA404391857 rs1468577369 |
623 | L>V | No |
ClinGen gnomAD |
|
|
CA9244837 rs373088091 |
625 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9244838 rs377557544 |
626 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1568416570 CA404391930 |
627 | F>S | No |
ClinGen Ensembl |
|
|
rs370497699 CA9244841 |
628 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9244840 rs370497699 |
628 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9244843 rs753071087 |
629 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143000486 CA9244842 |
629 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs758893574 CA9244845 |
630 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758893574 CA9244844 |
630 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs929218366 CA305627645 |
633 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs769300853 CA305627670 |
634 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769300853 CA9244847 |
634 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs2290663 VAR_026671 CA9244849 |
635 | T>S | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
|
rs1212719431 CA404392070 |
636 | A>G | No |
ClinGen gnomAD |
|
|
rs183492797 COSM227148 CA9244851 |
636 | A>T | Variant assessed as Somatic; 0.0 impact. autonomic_ganglia skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs761771153 CA9244852 COSM3403822 |
637 | R>C | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
COSM474226 CA9244853 rs375346936 |
637 | R>H | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs773328363 CA9244854 |
640 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs576790783 CA305627687 |
641 | R>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1599399428 CA404392167 |
645 | V>A | No |
ClinGen Ensembl |
|
|
CA9244856 rs188178946 |
645 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs866375741 CA305627698 |
646 | I>M | No |
ClinGen Ensembl |
|
|
CA404392170 rs1488460376 RCV000504039 |
646 | I>V | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA404392185 rs1223865756 |
647 | K>M | No |
ClinGen TOPMed |
|
|
rs746894472 CA404393346 |
650 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770785352 CA9244877 |
651 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9244879 rs759600641 |
652 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs1375879380 CA404393413 |
653 | S>G | No |
ClinGen gnomAD |
|
|
rs965535510 CA305629653 |
654 | S>R | No |
ClinGen TOPMed |
|
|
rs764376540 CA9244883 |
657 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs145909367 CA9244884 |
658 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9244886 rs753360853 |
662 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 662 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404393760 rs1599404920 |
663 | K>Q | No |
ClinGen Ensembl |
|
|
CA9244888 rs778584636 |
664 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA9244890 rs758124450 |
666 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404393954 rs1234777267 |
670 | P>T | No |
ClinGen gnomAD |
|
|
CA404393995 rs1390885180 |
671 | P>R | No |
ClinGen TOPMed |
|
|
rs746836125 CA9244892 |
671 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9244901 rs762128654 |
674 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201844043 CA404394182 |
676 | G>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9244905 rs375912206 |
677 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1433498944 CA404394224 |
678 | L>M | No |
ClinGen TOPMed |
|
|
CA9244906 rs369751128 |
680 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404394313 rs1289481651 |
681 | F>C | No |
ClinGen TOPMed |
|
|
rs1396248133 CA404394326 |
682 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 683 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9244907 rs777633314 |
685 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1046907819 CA305629809 |
686 | F>L | No |
ClinGen Ensembl |
|
|
rs200599375 CA9244908 |
687 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200663646 CA9244910 |
689 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200663646 CA9244909 |
689 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377380446 CA9244911 |
690 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377380446 CA404394651 |
690 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 692 | E>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404394871 rs1375866753 |
692 | E>G | No |
ClinGen TOPMed |
|
|
CA9244932 rs749352209 |
696 | K>R | No |
ClinGen ExAC |
|
|
CA305629943 rs370915483 |
697 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1364074600 CA404395133 |
700 | S>C | No |
ClinGen gnomAD |
|
|
rs779076857 CA9244934 |
700 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404395145 rs779076857 |
700 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373852755 CA404395193 |
702 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs926148895 CA305629960 |
702 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs373852755 CA9244935 |
702 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404395301 rs1419575394 |
706 | D>N | No |
ClinGen gnomAD |
|
|
CA404395311 rs1314032176 |
706 | D>V | No |
ClinGen gnomAD |
|
|
CA9244937 rs773433259 |
707 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1189656772 CA404395345 |
708 | P>T | No |
ClinGen TOPMed |
|
|
CA9244938 rs761186609 |
709 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746319772 CA9244957 |
710 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA404395613 rs1196490934 |
712 | E>K | No |
ClinGen gnomAD |
|
|
rs1599405956 CA404395755 |
715 | K>N | No |
ClinGen Ensembl |
|
|
rs770391486 CA9244958 RCV001293571 |
716 | L>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA9244960 rs761428935 |
719 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761428935 CA9244961 |
719 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1457584728 CA404395868 |
720 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel CA9244962 rs772805522 |
722 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA404395943 rs1427737404 |
722 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9244963 rs376979936 |
723 | R>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9244965 rs34024422 |
723 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9244964 rs376979936 |
723 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9244967 RCV000578699 rs754855261 |
726 | R>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA305630236 rs1033546846 |
726 | R>P | No |
ClinGen TOPMed |
|
|
rs1033546846 CA305630228 |
726 | R>Q | No |
ClinGen TOPMed |
|
|
rs752685823 CA9244968 |
729 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs778020606 CA9244970 |
737 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778020606 CA404396375 |
737 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404396399 rs1568420223 |
738 | V>M | No |
ClinGen Ensembl |
|
|
CA9244972 rs533880205 |
739 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404396422 rs533880205 |
739 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9244973 rs781680827 |
740 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA9244992 rs757549894 |
744 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs372979862 CA9244993 |
747 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA404396680 CA404396681 rs1315521885 |
748 | D>E | No |
ClinGen TOPMed |
|
|
rs375326941 CA9244994 |
749 | R>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
CA305630397 rs952517470 |
751 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9244996 rs780318284 |
753 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1397250516 CA404396830 |
754 | A>V | No |
ClinGen TOPMed |
|
|
rs796494723 CA305630427 |
755 | Q>K | No |
ClinGen Ensembl |
|
|
CA404396859 rs1240436480 |
756 | L>M | No |
ClinGen TOPMed |
|
|
CA9244999 rs777248038 |
763 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA9245002 rs749453820 |
768 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305630444 rs749453820 |
768 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760169254 CA9245001 |
768 | R>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 772 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 772 | E>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305631098 rs746453593 |
775 | D>G | No |
ClinGen Ensembl |
|
|
rs1280117906 CA404398315 |
776 | G>S | No |
ClinGen gnomAD |
|
|
CA9245038 rs766581070 |
776 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370263842 CA9245039 |
777 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs755387339 CA9245040 |
777 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305631119 rs981702503 |
778 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1447466616 CA404398393 |
780 | T>S | No |
ClinGen gnomAD |
|
|
rs77389229 CA9245044 |
781 | G>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 782 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9245046 rs779620838 |
783 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA404398441 rs779620838 |
783 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs748968748 CA9245047 |
783 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599408018 CA404398516 |
786 | V>G | No |
ClinGen Ensembl |
|
|
CA404398498 rs1599408014 |
786 | V>I | No |
ClinGen Ensembl |
|
|
CA404398565 rs1473540748 |
787 | M>I | No |
ClinGen gnomAD |
|
|
CA404398547 rs1599408029 |
787 | M>R | No |
ClinGen Ensembl |
|
|
rs1300589165 CA404398579 |
788 | V>I | No |
ClinGen gnomAD |
|
|
CA9245051 rs201236023 |
789 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9245050 rs748036713 |
789 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404398627 rs770334835 |
791 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA305631195 rs770334835 |
791 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1214555656 CA404398666 |
792 | E>Q | No |
ClinGen TOPMed |
|
|
RCV000499798 CA9245053 COSM1199743 rs760711609 |
793 | P>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA9245054 rs766604307 |
798 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA404398832 rs1599408118 |
798 | Q>P | No |
ClinGen Ensembl |
|
|
rs2305777 CA305631249 |
801 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9245056 rs527316620 |
802 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404399033 rs1309951846 |
805 | R>M | No |
ClinGen TOPMed |
|
|
CA404399112 rs1257699491 |
808 | V>G | No |
ClinGen gnomAD |
|
|
CA404399136 rs1440293293 |
809 | I>T | No |
ClinGen gnomAD |
|
| TCGA novel | 810 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA404399196 rs1368187641 |
811 | P>L | No |
ClinGen gnomAD |
|
|
CA305631270 rs897012926 |
812 | V>L | No |
ClinGen TOPMed |
|
|
COSM1304078 CA9245059 rs764547752 |
813 | P>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA305631281 rs560940476 |
813 | P>T | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
RCV000193711 CA207388 rs779644080 |
814 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA9245062 rs748880599 |
816 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9245063 rs138991278 |
818 | T>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1329520891 CA404399686 |
819 | Q>E | No |
ClinGen gnomAD |
|
|
rs781235861 CA9245094 |
819 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1231951932 CA404399703 |
820 | V>A | No |
ClinGen gnomAD |
|
|
CA404399701 rs745987033 |
820 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA9245095 rs745987033 |
820 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 823 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1478234338 CA404399859 |
826 | K>R | No |
ClinGen TOPMed |
|
|
CA404399886 rs1319504985 |
827 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA404399875 rs1319504985 |
827 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9245096 rs201620841 |
827 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1480550984 CA404399936 |
830 | V>M | No |
ClinGen gnomAD |
|
|
CA9245097 rs775639315 |
831 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA305631532 rs533904112 |
831 | P>S | No |
ClinGen 1000Genomes |
|
|
rs533904112 CA305631529 |
831 | P>T | No |
ClinGen 1000Genomes |
|
|
CA404400053 rs1568421715 |
833 | P>L | No |
ClinGen Ensembl |
|
|
rs373039847 CA9245100 |
834 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774788933 CA9245101 |
835 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404400111 rs1424454063 |
836 | E>K | No |
ClinGen gnomAD |
|
|
rs914520322 CA305631581 |
839 | N>Y | No |
ClinGen Ensembl |
|
|
CA404400659 rs1159160162 |
842 | A>S | No |
ClinGen gnomAD |
|
|
rs1159160162 CA404400657 |
842 | A>T | No |
ClinGen gnomAD |
|
|
CA9245132 rs757026777 |
843 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757026777 CA9245131 |
843 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9245130 rs751288837 |
843 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147219219 CA305632747 |
844 | P>S | No |
ClinGen 1000Genomes |
|
|
rs756055778 CA9245134 |
846 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750292734 CA9245133 |
846 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404400725 rs1198745826 |
847 | S>R | No |
ClinGen gnomAD |
|
|
rs780091723 CA9245135 |
849 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1014930960 CA305632749 |
849 | S>T | No |
ClinGen Ensembl |
|
|
rs749447153 CA9245136 |
851 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs907112340 CA305632757 |
852 | A>V | No |
ClinGen TOPMed |
|
|
CA305632776 rs375204832 |
854 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1312850121 CA404400861 |
855 | Q>P | No |
ClinGen gnomAD |
|
|
rs1212503801 CA404400897 |
857 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9245140 rs772528161 |
857 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747462241 CA9245142 |
858 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs747462241 CA404400904 |
858 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs377502758 CA305632799 |
860 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA9245144 rs774858858 |
860 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1172376094 CA404401093 |
865 | L>F | No |
ClinGen gnomAD |
|
|
CA9245156 rs748339374 |
866 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs758708475 CA9245157 |
867 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778271840 CA9245158 |
868 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9245161 rs201959405 |
869 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771534431 CA9245160 |
869 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs543219709 CA9245162 |
870 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs773746064 CA9245164 |
871 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9245166 rs771776207 |
872 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA305632990 rs201658053 |
872 | V>L | No |
ClinGen TOPMed |
|
|
rs1206169504 CA404401228 |
873 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1206169504 CA404401230 |
873 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1599412201 CA404401283 |
876 | V>G | No |
ClinGen Ensembl |
|
|
rs772955763 CA9245167 |
876 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404401291 rs1487690399 |
877 | A>D | No |
ClinGen gnomAD |
|
|
CA404401286 rs1219296548 |
877 | A>T | No |
ClinGen gnomAD |
|
|
CA404401358 rs1599412234 |
880 | Y>S | No |
ClinGen Ensembl |
|
|
CA9245169 rs766112931 |
881 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs1599412251 CA404401378 |
881 | Q>R | No |
ClinGen Ensembl |
|
|
CA9245170 rs753773516 |
884 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA404401441 rs1209571918 |
884 | M>V | No |
ClinGen gnomAD |
|
|
rs1599412286 CA404401479 |
885 | Q>H | No |
ClinGen Ensembl |
|
|
rs374990372 CA9245171 |
886 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9245173 rs752883518 |
887 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305633029 rs938610823 |
888 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs867701004 CA305633034 |
890 | Q>K | No |
ClinGen Ensembl |
|
|
rs1184060764 CA404401615 |
892 | A>G | No |
ClinGen TOPMed |
|
|
CA9245175 rs532037297 |
892 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9245176 rs751951266 |
893 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9245178 rs757600205 |
896 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757600205 CA404401681 |
896 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1284507858 CA404401688 |
897 | G>R | No |
ClinGen gnomAD |
|
|
rs781414899 CA404401703 |
898 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404401694 rs1358207512 |
898 | G>S | No |
ClinGen TOPMed gnomAD |
|
| rs1423002835 | 898 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9245179 rs781414899 |
898 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404401711 rs1599412449 |
899 | V>L | No |
ClinGen Ensembl |
|
|
CA9245180 rs746326331 |
902 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA9245181 rs368221981 |
902 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9245182 rs368221981 |
902 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA404402335 rs1462913085 |
904 | E>G | No |
ClinGen gnomAD |
|
|
CA9245193 rs11669628 |
906 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs969475227 CA305633398 |
906 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs751764057 CA9245194 |
907 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1216478977 CA404402397 |
908 | Q>H | No |
ClinGen TOPMed |
|
|
rs1173353363 CA404402401 |
909 | L>V | No |
ClinGen gnomAD |
|
|
rs756610637 CA404402435 |
911 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9245197 rs756610637 |
911 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304864513 CA404402457 |
913 | L>R | No |
ClinGen gnomAD |
|
|
CA9245199 rs201667133 |
913 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1334642123 CA404402485 |
915 | F>L | No |
ClinGen gnomAD |
|
|
CA9245200 rs757868058 |
916 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404402489 rs757868058 |
916 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9245201 rs777274248 |
917 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202650332 CA404402502 |
918 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9245203 rs770550279 |
919 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770550279 CA404402529 |
919 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9245205 rs745692184 |
921 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776483239 CA9245204 |
921 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9245207 rs762988712 |
922 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9245209 rs774628673 |
925 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs576457697 CA9245212 |
926 | D>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404402700 rs1296353968 |
929 | R>W | No |
ClinGen gnomAD |
|
|
CA9245235 rs760036269 |
935 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA404402954 rs760036269 |
935 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9245237 rs751058991 |
936 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs994729352 CA305633736 |
936 | L>P | No |
ClinGen TOPMed |
|
|
CA404402999 rs1221797331 |
937 | Y>C | No |
ClinGen gnomAD |
|
|
rs780787008 CA9245239 |
939 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs544144437 CA9245238 |
939 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA404403054 COSM159773 rs1185000415 |
940 | N>K | breast [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA404403096 rs1297639118 |
942 | V>A | No |
ClinGen TOPMed |
|
|
CA404403133 rs1039330361 |
943 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9245241 rs749984125 |
944 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA9245242 rs755887406 |
944 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs1158669491 CA404403180 |
945 | E>G | No |
ClinGen gnomAD |
|
|
rs1452539478 CA404403328 |
947 | Q>H | No |
ClinGen gnomAD |
|
|
rs778770325 CA9245263 |
948 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754778133 CA9245262 |
948 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9245264 rs747980987 |
950 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs371616480 CA9245265 |
950 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1205821078 CA404403410 |
951 | R>K | No |
ClinGen gnomAD |
|
|
CA404403403 rs1312941953 |
951 | R>W | No |
ClinGen gnomAD |
No associated diseases with Q6P1N0
No regional properties for Q6P1N0
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q6P1N0 | |||
7 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. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| fibrillar center | A structure found most metazoan nucleoli, but not usually found in lower eukaryotes; surrounded by the dense fibrillar component; the zone of transcription from multiple copies of the pre-rRNA genes is in the border region between these two structures. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| microtubule organizing center | An intracellular structure that can catalyze gamma-tubulin-dependent microtubule nucleation and that can anchor microtubules by interacting with their minus ends, plus ends or sides. |
| 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. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
4 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| DNA-binding transcription factor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that modulates the transcription of specific gene sets transcribed by RNA polymerase II. |
| DNA-binding transcription repressor activity, RNA polymerase II-specific | A DNA-binding transcription factor activity that represses or decreases the transcription of specific gene sets transcribed by RNA polymerase II. |
| RNA polymerase II cis-regulatory region sequence-specific DNA binding | Binding to a specific upstream regulatory DNA sequence (transcription factor recognition sequence or binding site) located in cis relative to the transcription start site (i.e., on the same strand of DNA) of a gene transcribed by RNA polymerase II. |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of snRNA transcription by RNA polymerase II | Any process that stops, prevents or reduces the frequency, rate or extent of snRNA transcription mediated by RNA polymerase II. |
| positive regulation of I-kappaB kinase/NF-kappaB signaling | Any process that activates or increases the frequency, rate or extent of I-kappaB kinase/NF-kappaB signaling. |
| regulation of transcription by RNA polymerase II | Any process that modulates the frequency, rate or extent of transcription mediated by RNA polymerase II. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MHKRKGPPGP | PGRGAAAARQ | LGLLVDLSPD | GLMIPEDGAN | DEELEAEFLA | LVGGQPPALE |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KLKGKGPLPM | EAIEKMASLC | MRDPDEDEEE | GTDEDDLEAD | DDLLAELNEV | LGEEQKASET |
| 130 | 140 | 150 | 160 | 170 | 180 |
| PPPVAQPKPE | APHPGLETTL | QERLALYQTA | IESARQAGDS | AKMRRYDRGL | KTLENLLASI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| RKGNAIDEAD | IPPPVAIGKG | PASTPTYSPA | PTQPAPRIAS | APEPRVTLEG | PSATAPASSP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GLAKPQMPPG | PCSPGPLAQL | QSRQRDYKLA | ALHAKQQGDT | TAAARHFRVA | KSFDAVLEAL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| SRGEPVDLSC | LPPPPDQLPP | DPPSPPSQPP | TPATAPSTTE | VPPPPRTLLE | ALEQRMERYQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VAAAQAKSKG | DQRKARMHER | IVKQYQDAIR | AHKAGRAVDV | AELPVPPGFP | PIQGLEATKP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TQQSLVGVLE | TAMKLANQDE | GPEDEEDEVP | KKQNSPVAPT | AQPKAPPSRT | PQSGSAPTAK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| APPKATSTRA | QQQLAFLEGR | KKQLLQAALR | AKQKNDVEGA | KMHLRQAKGL | EPMLEASRNG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LPVDITKVPP | APVNKDDFAL | VQRPGPGLSQ | EAARRYGELT | KLIRQQHEMC | LNHSNQFTQL |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GNITETTKFE | KLAEDCKRSM | DILKQAFVRG | LPTPTARFEQ | RTFSVIKIFP | DLSSNDMLLF |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IVKGINLPTP | PGLSPGDLDV | FVRFDFPYPN | VEEAQKDKTS | VIKNTDSPEF | KEQFKLCINR |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SHRGFRRAIQ | TKGIKFEVVH | KGGLFKTDRV | LGTAQLKLDA | LEIACEVREI | LEVLDGRRPT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| GGRLEVMVRI | REPLTAQQLE | TTTERWLVID | PVPAAVPTQV | AGPKGKAPPV | PAPARESGNR |
| 850 | 860 | 870 | 880 | 890 | 900 |
| SARPLHSLSV | LAFDQERLER | KILALRQARR | PVPPEVAQQY | QDIMQRSQWQ | RAQLEQGGVG |
| 910 | 920 | 930 | 940 | 950 | |
| IRREYAAQLE | RQLQFYTEAA | RRLGNDGSRD | AAKEALYRRN | LVESELQRLR | R |