Q12955
SS
Gene name |
ANK3 |
Protein name |
Ankyrin-3 |
Names |
ANK-3 , Ankyrin-G |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:288 |
EC number |
|
Protein Class |
|
Descriptions
Ankyrins are a widely expressed scaffold protein family, which mainly function to link great varieties of functionally related but structurally diverse integral membrane proteins. Autoinhibition in Ankyrin-2 and Ankyrin-3 is facilitated by the combinatorial and quasi-independent bindings of multiple disordered segments located in the linker and tail regions. These segments interact with the membrane binding domain's ANK repeats, adopting a head-to-tail conformation that inhibits the binding to membrane proteins.
Autoinhibitory domains (AIDs)
Target domain |
38-829 (Membrane binding domain) |
Relief mechanism |
Partner binding |
Assay |
|
Target domain |
38-829 (Membrane binding domain) |
Relief mechanism |
Partner binding |
Assay |
|
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q12955
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 4O6X | X-ray | 210 A | A/B | 4088-4199 | PDB |
4243 variants for Q12955
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA357990 rs746466187 RCV002515589 RCV000210542 |
35 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000479154 RCV000764906 COSM3439443 CA16618964 rs1064796340 |
50 | R>* | Variant assessed as Somatic; HIGH impact. Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar Ensembl NCI-TCGA dbSNP |
|
RCV001252400 rs2098133661 |
63 | N>I | Intellectual disability [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV001252399 rs753653601 |
67 | I>V | Intellectual disability [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002503176 RCV001726816 rs200837964 |
224 | N>S | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003138097 rs139379111 RCV002206673 |
423 | G>S | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001196751 rs774827889 |
454 | H>R | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1702524 rs753197813 RCV002266655 |
553 | D>N | ANK3-related neurodevelopmental disorder skin [ClinVar, Cosmic] | Yes |
cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000420775 rs540939855 CA5513004 RCV001731683 |
628 | A>T | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs761904426 RCV001420614 |
647 | A>T | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM3439405 COSM3439406 RCV001358746 rs1234025820 |
709 | R>* | Variant assessed as Somatic; HIGH impact. Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar TOPMed dbSNP |
|
RCV003247177 rs755310927 RCV001957316 |
709 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001332382 RCV001859290 rs180821737 |
823 | M>V | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs190358169 CA5512764 RCV000767101 RCV000239074 RCV000764905 |
852 | R>H | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1590691724 RCV000988366 |
887 | Q>* | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000660500 rs944771081 |
908 | G>R | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
rs2094230190 RCV002227662 |
946 | E>Q | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
rs730882195 CA186036 VAR_077912 RCV000162096 RCV001269525 |
968 | D>H | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome found in a patient with Gillessen-Kaesbach-Nishimura syndrome; uncertain significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV002227562 rs535526499 RCV001819603 |
1047 | V>I | Intellectual disability, autosomal recessive 66 [ClinVar] | Yes |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
RCV001332383 RCV003416220 rs2092116910 |
1073 | K>R | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs562083248 RCV001879853 RCV002570509 RCV001252395 |
1093 | F>L | Intellectual disability Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001255117 RCV001879929 rs746416574 |
1163 | Q>R | Intellectual disability [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002555732 RCV003136295 rs138308296 RCV001910097 |
1202 | I>V | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1589784865 COSM4014963 RCV000988365 COSM4014962 COSM4014961 |
1243 | R>C | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar dbSNP gnomAD |
|
rs767721464 COSM4014959 COSM4014960 RCV001967295 COSM4014958 RCV002484619 |
1243 | R>H | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001542368 RCV002032529 rs755265993 |
1324 | V>I | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765852674 RCV001883313 RCV002552169 |
1357 | I>T | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001917941 rs1379779681 RCV002554335 |
1372 | N>H | Inborn genetic diseases [ClinVar] | Yes |
ClinVar TOPMed dbSNP gnomAD |
|
CA207101 rs139982397 RCV000764904 RCV000193546 RCV000657142 |
1467 | K>R | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs74777754 RCV000904407 RCV002495471 |
1468 | R>H | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs765827508 RCV001877167 RCV003225753 |
1487 | S>P | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000194581 CA208827 RCV000764903 rs41274676 RCV000881385 |
1489 | P>S | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001864932 RCV002548712 rs187577622 |
1534 | A>V | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs375050420 VAR_068702 RCV000074343 RCV001332384 CA5512123 RCV001723642 RCV003230393 |
1569 | S>A | Autism Intellectual disability-hypotonia-spasticity-sleep disorder syndrome found in a patient with autism; uncertain significance [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
rs565896400 RCV000714612 RCV001862001 |
1575 | R>W | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs188159332 RCV000502808 CA5512089 RCV000879273 RCV003333073 |
1636 | R>K | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001542347 rs759998919 |
1728 | S>F | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs774735705 RCV001252396 |
1735 | C>F | Intellectual disability [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV003170212 RCV001956684 rs752017482 |
1781 | Y>H | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5512011 RCV000514963 rs151312085 RCV002490870 RCV001821439 |
1808 | I>V | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1589630328 RCV000994402 RCV003372933 |
1815 | V>I | Inborn genetic diseases [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
RCV000950190 RCV000501821 RCV000764902 rs117475706 CA5511993 |
1861 | T>M | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201428263 RCV003138038 RCV002007037 |
1923 | V>G | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV002545185 RCV002478064 rs764632652 RCV001817847 |
1926 | E>missing | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003234115 rs2131982810 |
1949 | E>* | ANK3-related disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs201983331 RCV003298265 CA249330 RCV000203128 |
1978 | K>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001252401 rs372922084 |
1989 | W>R | Intellectual disability [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs146929899 RCV000500048 CA5511920 RCV002527191 RCV000763666 |
2023 | A>T | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1179149288 RCV001332385 |
2041 | I>T | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar dbSNP gnomAD |
|
CA205947 RCV001781567 RCV001252403 RCV001852542 RCV000192843 rs144465058 |
2185 | Q>H | Intellectual disability Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000417721 rs770107349 RCV000763665 CA5511832 RCV000766411 |
2232 | R>Q | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs747533848 COSM298580 RCV001196750 |
2239 | R>C | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5511788 RCV002527193 RCV000763664 RCV000502685 RCV000727186 rs144270555 |
2306 | K>E | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000766979 RCV000192926 RCV000763663 CA206083 rs140741466 |
2490 | P>L | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002049644 RCV002549069 RCV003138065 COSM4661604 rs759280618 |
2501 | R>W | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs146874315 RCV002521559 RCV000442421 CA5511676 |
2555 | M>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375600068 COSM2148598 RCV000194968 RCV002517043 CA209489 RCV002517042 |
2558 | R>C | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002479793 rs139972937 RCV002021086 |
2643 | N>S | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002554320 RCV001922821 RCV003883187 rs369092362 |
2663 | E>K | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002554326 RCV001917798 rs750585326 |
2685 | S>N | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001196086 rs2082962014 |
2736 | E>D | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs750733016 RCV001965111 RCV003167412 COSM5217679 |
2798 | E>K | Variant assessed as Somatic; MODERATE impact. Inborn genetic diseases [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs139022925 RCV002056979 RCV000194952 RCV000763662 CA209460 |
2845 | G>E | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000193353 RCV003137770 rs78194762 RCV002054251 COSM919246 CA206785 |
2858 | S>L | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002280121 rs186051700 RCV003766814 RCV000500100 CA5511523 |
2864 | K>N | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002536488 RCV000732822 rs150399982 |
2898 | M>T | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs375389082 RCV001852543 CA208519 RCV000194383 RCV003483569 |
2916 | I>V | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
COSM3375501 RCV003303355 RCV001899177 rs146205433 |
3042 | E>K | Variant assessed as Somatic; MODERATE impact. pancreas Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001940312 RCV002556447 rs138858281 |
3054 | F>L | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs181031970 RCV001917358 RCV003136260 |
3114 | V>A | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001522177 VAR_059117 RCV000116349 RCV001554079 rs10821668 CA151819 |
3123 | K>R | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001901652 rs2131970999 RCV002227566 |
3200 | I>V | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs749129953 RCV002013731 RCV002545525 COSM193431 |
3230 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs747043475 RCV001819489 RCV002542574 |
3236 | V>M | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000427975 CA5511313 RCV000766412 RCV001336529 rs201625904 |
3312 | A>V | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA377002066 RCV000500567 rs765015032 RCV002524148 |
3313 | D>E | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001252397 rs2082556385 |
3321 | E>D | Intellectual disability [ClinVar] | Yes |
ClinVar Ensembl dbSNP |
|
rs181680457 RCV002546555 RCV001332386 |
3322 | S>F | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000882016 RCV002527189 RCV000503285 RCV000763661 rs140183285 CA5511298 |
3333 | T>S | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001726812 rs201398340 RCV002488484 |
3466 | V>D | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5511213 RCV000763660 RCV000882015 RCV002527188 rs147527383 RCV000500518 |
3563 | E>G | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002016264 rs781254027 RCV002545891 |
3664 | D>N | Inborn genetic diseases [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA10575615 rs879255535 RCV000074342 |
3666 | T>missing | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP |
|
RCV001175255 rs2082373823 |
3678 | P>missing | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
COSM1348424 RCV001336009 rs532004139 |
3719 | R>C | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Variant assessed as Somatic; MODERATE impact. large_intestine [ClinVar, NCI-TCGA, Cosmic] | Yes |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs191382767 RCV000915256 RCV002540889 |
3833 | G>R | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000907513 RCV001263352 RCV002540764 rs12260663 |
3893 | S>T | Global developmental delay Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000194791 CA209202 rs797045230 RCV003165427 |
3895 | S>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs148549519 RCV001857682 CA205263 RCV000763659 RCV000192436 |
3942 | K>R | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs2082150277 RCV001252402 |
3965 | T>missing | Intellectual disability [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001967593 RCV003355672 rs377041799 |
4024 | E>K | Inborn genetic diseases [ClinVar] | Yes |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs374134328 RCV002490190 RCV001896591 |
4048 | S>L | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs778664446 RCV001837293 |
4077 | S>R | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768220615 RCV002227852 |
4119 | I>T | Intellectual disability, autosomal recessive 66 [ClinVar] | Yes |
ClinVar ExAC dbSNP gnomAD |
|
CA205861 RCV000192793 RCV001857683 RCV003343686 rs148498212 |
4342 | S>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs775338026 RCV001799566 |
4342 | S>R | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002496937 RCV000502891 RCV000961062 rs141939315 CA5510635 |
4369 | R>Q | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003168683 CA5510633 RCV000442262 rs141713197 RCV003409603 |
4370 | H>L | ANK3-related condition Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001196453 RCV001863107 rs201169886 |
4377 | S>L | Intellectual disability-hypotonia-spasticity-sleep disorder syndrome Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs2132869725 RCV002014947 |
3 | H>L | No |
ClinVar Ensembl dbSNP |
|
| rs2062908893 | 4 | A>E | No | TOPMed | |
| rs1235246078 | 5 | A>V | No |
TOPMed gnomAD |
|
| rs2062907654 | 6 | S>P | No | gnomAD | |
| COSM3397196 | 8 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2062907281 | 9 | K>N | No | TOPMed | |
| rs2062906843 | 12 | R>K | No | Ensembl | |
| COSM172661 | 12 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs148480546 | 13 | D>E | No |
ESP ExAC TOPMed |
|
| rs981773418 | 13 | D>N | No |
TOPMed gnomAD |
|
| rs981773418 | 13 | D>Y | No |
TOPMed gnomAD |
|
| COSM1348481 | 15 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM1702537 | 15 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2062904908 | 16 | I>V | No | Ensembl | |
| rs376506318 | 18 | A>S | No |
ESP ExAC TOPMed |
|
| rs376506318 | 18 | A>T | No |
ESP ExAC TOPMed |
|
| rs146194513 | 20 | E>Q | No | ESP | |
| rs1302253753 | 22 | P>L | No |
TOPMed gnomAD |
|
| rs1168207932 | 24 | K>E | No | gnomAD | |
| rs2062900522 | 24 | K>R | No |
TOPMed gnomAD |
|
| rs756621171 | 26 | R>G | No |
ExAC TOPMed gnomAD |
|
|
COSM1348480 rs1373792937 |
26 | R>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
TCGA novel rs2062899174 COSM1702536 |
26 | R>K | Variant assessed as Somatic; HIGH impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA cosmic curated Ensembl |
| rs1172798564 | 27 | K>T | No | gnomAD | |
| rs766995409 | 29 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs373407780 | 29 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs373407780 | 29 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs766995409 | 29 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs141511303 | 31 | R>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141511303 RCV002018536 |
31 | R>P | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs141511303 | 31 | R>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1236758615 | 31 | R>W | No |
TOPMed gnomAD |
|
|
RCV001970162 rs759973241 |
32 | S>missing | No |
ClinVar dbSNP |
|
|
rs769597223 COSM193512 |
33 | R>Q | large_intestine [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs865910336 | 33 | R>W | No | Ensembl | |
| rs139879505 | 35 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 36 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2062892026 | 37 | K>T | No | Ensembl | |
| rs1199746614 | 40 | D>E | No | gnomAD | |
| rs1430387975 | 40 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| TCGA novel | 40 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755577410 | 42 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs755577410 | 42 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs2098134021 | 43 | A>E | No |
TOPMed gnomAD |
|
| rs1025478518 | 43 | A>S | No |
TOPMed gnomAD |
|
| rs190156451 | 44 | S>N | No | Ensembl | |
| rs747490878 | 46 | L>F | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 48 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1447519982 | 49 | A>V | No | gnomAD | |
| COSM265998 | 51 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2098133849 RCV002035039 |
51 | A>T | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
COSM3738671 rs2098133805 |
53 | H>R | liver [Cosmic] | No |
cosmic curated Ensembl |
| COSM3439442 | 55 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1322609638 | 57 | A>T | No | gnomAD | |
| rs2132706213 | 57 | A>V | No | Ensembl | |
| COSM4014995 | 58 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs376032920 COSM3439441 |
59 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs756800788 | 61 | I>T | No |
ExAC gnomAD |
|
| rs866896260 | 65 | V>F | No | Ensembl | |
| COSM6130262 | 69 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs763836285 | 69 | I>T | No |
ExAC gnomAD |
|
| COSM465817 | 72 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 73 | N>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM6066716 | 75 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs755900252 | 80 | L>V | No |
ExAC gnomAD |
|
| TCGA novel | 87 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759345233 | 89 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs759345233 | 89 | V>I | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 90 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1267398164 | 90 | V>I | No | TOPMed | |
| TCGA novel | 92 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM427739 | 92 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1592956332 RCV000994404 |
96 | R>K | No |
ClinVar Ensembl dbSNP |
|
| rs2098128537 | 97 | E>G | No | TOPMed | |
|
rs1439725342 COSM5370922 |
97 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1287829622 | 98 | A>T | No | gnomAD | |
| rs149618682 | 99 | N>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs981899190 | 99 | N>S | No |
TOPMed gnomAD |
|
| rs1360254322 | 100 | V>L | No | gnomAD | |
| rs2098128409 | 101 | D>N | No |
TOPMed gnomAD |
|
|
rs797045233 CA208724 RCV000194515 |
101 | D>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs762179967 | 103 | A>V | No | ExAC | |
|
rs867574111 COSM1702534 |
107 | G>E | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
|
COSM3867569 rs1485831548 |
107 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| TCGA novel | 108 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2098125254 | 109 | T>R | No |
TOPMed gnomAD |
|
| rs2098125181 | 112 | H>N | No | TOPMed | |
| rs2098125130 | 113 | I>V | No | Ensembl | |
|
COSM919320 rs748812113 |
114 | A>T | Variant assessed as Somatic; MODERATE impact. endometrium breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs934937244 | 117 | A>S | No | TOPMed | |
| rs747771256 | 119 | Q>E | No |
ExAC gnomAD |
|
| rs1177684200 | 120 | A>G | No | gnomAD | |
| TCGA novel | 120 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754720513 | 122 | V>G | No |
ExAC gnomAD |
|
| rs781093754 | 122 | V>M | No |
ExAC gnomAD |
|
| rs1289424730 | 123 | V>G | No | gnomAD | |
|
rs1444801503 COSM539456 COSM6066717 |
123 | V>L | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs2098124715 | 124 | K>N | No | Ensembl | |
| rs928588124 | 125 | V>I | No | TOPMed | |
| TCGA novel | 125 | V>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1432774548 | 126 | L>V | No | gnomAD | |
|
rs1181431847 COSM1675275 |
127 | V>A | large_intestine [Cosmic] | No |
cosmic curated TOPMed |
| rs1175384246 | 127 | V>L | No |
TOPMed gnomAD |
|
|
CA151787 rs114937210 RCV000514415 RCV000116333 |
128 | T>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs758350964 | 128 | T>I | No |
ExAC gnomAD |
|
| rs753986742 | 129 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs753986742 | 129 | N>H | No |
ExAC TOPMed gnomAD |
|
| rs1428057758 | 129 | N>K | No | gnomAD | |
| rs753986742 | 129 | N>Y | No |
ExAC TOPMed gnomAD |
|
| rs544201420 | 130 | G>E | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV002018933 rs377444314 |
131 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
| rs752839113 | 132 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs1224764891 | 137 | S>T | No | gnomAD | |
| rs1306458227 | 137 | S>Y | No | gnomAD | |
| COSM6129721 | 138 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1216279673 | 138 | Q>E | No | gnomAD | |
| rs2097949520 | 140 | G>V | No | Ensembl | |
| rs571102422 | 142 | T>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM3867568 | 143 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM465816 | 146 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768212064 | 148 | A>G | No |
ExAC gnomAD |
|
| rs768212064 | 148 | A>V | No |
ExAC gnomAD |
|
| rs1181466608 | 149 | Q>P | No | gnomAD | |
| rs2097949224 | 151 | N>D | No |
TOPMed gnomAD |
|
| rs746630662 | 151 | N>K | No | ExAC | |
| rs2132670999 | 153 | L>R | No | Ensembl | |
|
COSM4399763 rs2097949164 |
154 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| COSM3867567 | 159 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1566129458 | 159 | L>I | No | Ensembl | |
| rs778989436 | 161 | D>E | No |
ExAC gnomAD |
|
| rs745858472 | 161 | D>G | No |
ExAC gnomAD |
|
| COSM3807428 | 161 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1183884348 | 161 | D>N | No | gnomAD | |
| rs1183884348 | 161 | D>Y | No | gnomAD | |
| rs1223157870 | 162 | N>H | No | gnomAD | |
| rs770844854 | 162 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs570107065 | 163 | G>D | No | 1000Genomes | |
| rs748199715 | 163 | G>R | No |
ExAC gnomAD |
|
| COSM684784 | 163 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2097948563 | 164 | A>G | No | TOPMed | |
| rs781293520 | 165 | S>C | No |
ExAC gnomAD |
|
| rs1336113763 | 165 | S>N | No | gnomAD | |
| rs1290494862 | 165 | S>R | No | gnomAD | |
|
rs2132670869 RCV001950399 |
167 | S>G | No |
ClinVar Ensembl dbSNP |
|
| rs1386658728 | 167 | S>R | No |
TOPMed gnomAD |
|
|
RCV002253069 rs146434581 |
169 | A>T | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1184142496 | 170 | T>I | No |
TOPMed gnomAD |
|
| COSM6066221 | 173 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750812788 | 173 | G>S | No |
ExAC gnomAD |
|
| rs2097845079 | 178 | A>S | No | TOPMed | |
| TCGA novel | 178 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1012499563 | 179 | V>M | No | TOPMed | |
| rs2132649575 | 180 | A>S | No | Ensembl | |
| rs2132649575 | 180 | A>T | No | Ensembl | |
| rs2132649558 | 182 | Q>* | No | Ensembl | |
| rs1337582958 | 184 | G>A | No | gnomAD | |
| rs763572409 | 186 | D>E | No |
ExAC TOPMed gnomAD |
|
|
COSM919319 rs1592696131 RCV001352623 |
186 | D>N | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar Ensembl dbSNP |
| rs767300650 | 189 | V>I | No |
ExAC TOPMed gnomAD |
|
|
rs868365286 COSM223406 |
190 | S>L | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs2097844666 | 193 | L>P | No | TOPMed | |
| rs1166748526 | 194 | E>D | No | gnomAD | |
| rs2097844608 | 195 | N>K | No | Ensembl | |
| rs2097844591 | 197 | T>S | No | Ensembl | |
|
rs2132649381 COSM1686129 |
199 | G>E | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
|
COSM4661622 rs770734926 |
202 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC gnomAD |
|
COSM2148851 rs748593236 |
202 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs748593236 | 202 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs770734926 | 202 | R>S | No |
ExAC gnomAD |
|
| rs2132649330 | 204 | P>L | No | Ensembl | |
| rs867695079 | 207 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1196523308 | 209 | A>G | No |
TOPMed gnomAD |
|
| rs147699902 | 209 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1196523308 | 209 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
rs2132649273 TCGA novel |
210 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs2132649264 | 210 | A>V | No | Ensembl | |
| rs2132649260 | 211 | R>* | No | Ensembl | |
|
COSM1702532 rs1290278926 |
211 | R>Q | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs2132649247 | 213 | D>H | No | Ensembl | |
| rs2132649247 | 213 | D>N | No | Ensembl | |
|
COSM684785 rs2132649228 |
214 | D>N | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs2132649228 | 214 | D>Y | No | Ensembl | |
| rs749828718 | 215 | T>M | No |
ExAC TOPMed gnomAD |
|
| rs1286270565 | 215 | T>S | No | gnomAD | |
| rs2132649191 | 217 | A>P | No | Ensembl | |
| rs2132649191 | 217 | A>S | No | Ensembl | |
| rs2132649191 | 217 | A>T | No | Ensembl | |
| rs2132649182 | 217 | A>V | No | Ensembl | |
| rs1429902701 | 218 | A>T | No |
TOPMed gnomAD |
|
| rs752286456 | 218 | A>V | No |
ExAC gnomAD |
|
| rs2097844113 | 219 | A>S | No |
TOPMed gnomAD |
|
| rs2097844113 | 219 | A>T | No |
TOPMed gnomAD |
|
| rs2132649125 | 223 | Q>* | No | Ensembl | |
| rs751241885 | 223 | Q>R | No |
ExAC gnomAD |
|
| rs2132649101 | 225 | D>N | No | Ensembl | |
| rs2132649089 | 228 | A>V | No | Ensembl | |
| rs2132649085 | 229 | D>N | No | Ensembl | |
| rs2132649085 | 229 | D>Y | No | Ensembl | |
| rs772821921 | 230 | V>A | No |
ExAC TOPMed |
|
| rs2132649080 | 230 | V>M | No | Ensembl | |
| rs1056311368 | 231 | E>K | No |
TOPMed gnomAD |
|
| COSM4405112 | 232 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767652077 | 237 | T>P | No | ExAC | |
| COSM2148847 | 239 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1280965460 | 240 | H>Q | No | gnomAD | |
| rs2097812561 | 241 | I>T | No | TOPMed | |
| COSM1702531 | 246 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1367665291 | 248 | I>T | No |
TOPMed gnomAD |
|
| rs1438240986 | 249 | N>S | No | TOPMed | |
| TCGA novel | 250 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1428502884 | 251 | A>T | No | gnomAD | |
| rs1344409291 | 252 | T>K | No | gnomAD | |
| rs1344409291 | 252 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| TCGA novel | 253 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1471750210 | 253 | L>W | No |
TOPMed gnomAD |
|
| rs2132642641 | 256 | N>S | No | Ensembl | |
| COSM4014994 | 257 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1459024330 | 257 | R>P | No | gnomAD | |
|
rs1459024330 COSM4405146 |
257 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs140444175 | 258 | A>V | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 259 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs866113467 | 259 | A>T | No | TOPMed | |
| rs1433895683 | 260 | A>G | No | gnomAD | |
| rs2097811830 | 261 | V>M | No | TOPMed | |
| rs1592664933 | 262 | D>G | No | Ensembl | |
|
rs868235905 COSM3439438 |
262 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs1485801472 | 264 | T>S | No | gnomAD | |
| rs1171402150 | 265 | A>T | No |
TOPMed gnomAD |
|
| rs746547062 | 266 | R>K | No |
ExAC gnomAD |
|
| COSM4014992 | 266 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1461585626 | 272 | L>S | No | gnomAD | |
| rs2097302740 | 273 | H>* | No | Ensembl | |
| TCGA novel | 278 | R>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3439437 | 278 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs745604506 | 278 | R>T | No |
ExAC gnomAD |
|
| TCGA novel | 279 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2097302619 | 281 | A>V | No | TOPMed | |
| rs778542388 | 284 | V>L | No |
ExAC gnomAD |
|
| COSM919318 | 288 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs200811814 | 289 | D>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs200811814 | 289 | D>N | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM1348476 | 290 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1403707172 | 290 | R>P | No |
TOPMed gnomAD |
|
| rs2097302353 | 293 | K>T | No |
TOPMed gnomAD |
|
| rs1251860652 | 295 | D>N | No |
TOPMed gnomAD |
|
|
rs752563117 RCV002011398 |
295 | D>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1565877687 | 296 | A>D | No | TOPMed | |
| TCGA novel | 296 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1357121257 | 297 | K>E | No | gnomAD | |
| TCGA novel | 299 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1555147037 CA376985945 RCV000523708 COSM1702530 |
301 | G>D | skin [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
| rs180827918 | 303 | T>I | No |
1000Genomes ExAC gnomAD |
|
| rs781001445 | 309 | A>S | No |
ExAC gnomAD |
|
| TCGA novel | 312 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754893121 | 312 | G>S | No |
ExAC gnomAD |
|
| rs368047582 | 313 | H>Q | No |
ExAC TOPMed gnomAD |
|
|
rs4635033 COSM238778 |
314 | E>K | Variant assessed as Somatic; MODERATE impact. prostate [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| rs1207948410 | 317 | V>I | No | gnomAD | |
| rs2096887444 | 319 | M>I | No | TOPMed | |
| rs2096887495 | 319 | M>T | No | Ensembl | |
| rs2096887394 | 320 | L>F | No | TOPMed | |
| rs1296356768 | 321 | L>H | No |
TOPMed gnomAD |
|
| rs2096887283 | 322 | D>Y | No | gnomAD | |
| COSM2148845 | 323 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1465170774 | 323 | R>Q | No | gnomAD | |
| rs369098464 | 324 | A>G | No |
ESP TOPMed gnomAD |
|
| rs369098464 | 324 | A>V | No |
ESP TOPMed gnomAD |
|
| rs2096887176 | 327 | I>T | No | TOPMed | |
| TCGA novel | 328 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM919315 | 329 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 330 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 332 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs375976636 | 332 | K>R | No |
1000Genomes ESP |
|
| rs757410572 | 333 | N>S | No |
ExAC gnomAD |
|
| rs267602543 | 337 | P>L | No | Ensembl | |
| rs915524720 | 338 | L>F | No |
TOPMed gnomAD |
|
| rs1252989835 | 338 | L>S | No | gnomAD | |
| rs2096794133 | 341 | A>T | No | Ensembl | |
| rs760093400 | 342 | T>A | No |
ExAC gnomAD |
|
| rs1565686426 | 343 | Q>* | No | Ensembl | |
|
CA16606028 rs1057521728 RCV000444406 |
343 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs752057020 | 345 | D>E | No |
ExAC gnomAD |
|
| rs1457425985 | 345 | D>Y | No | gnomAD | |
| rs762461317 | 350 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs1189838069 | 351 | Q>R | No | gnomAD | |
| rs1565685891 | 355 | Q>H | No | Ensembl | |
| rs935387837 | 356 | H>R | No | Ensembl | |
| rs2096793666 | 356 | H>Y | No | Ensembl | |
| rs776335889 | 357 | N>H | No |
ExAC TOPMed gnomAD |
|
| rs1453517572 | 357 | N>K | No |
TOPMed gnomAD |
|
| rs776335889 | 357 | N>Y | No |
ExAC TOPMed gnomAD |
|
| rs768561982 | 359 | P>S | No |
ExAC gnomAD |
|
|
rs780148122 RCV001888024 |
360 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
COSM73660 COSM4947370 |
362 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1348475 COSM1348474 |
362 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1228178658 | 362 | D>V | No | gnomAD | |
| rs2096793466 | 364 | T>A | No | Ensembl | |
| rs1465363461 | 365 | N>D | No |
TOPMed gnomAD |
|
| rs749403036 | 365 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs1023447479 | 370 | A>S | No | Ensembl | |
| rs200375830 | 370 | A>V | No |
ExAC TOPMed gnomAD |
|
|
COSM1492303 COSM1492304 |
375 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2096793058 | 379 | H>R | No | Ensembl | |
| rs2096793016 | 381 | K>T | No | TOPMed | |
| rs199666884 | 385 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs199666884 | 385 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs1565684937 COSM3439434 COSM3439435 |
386 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs1057521304 CA16606676 RCV000440488 |
388 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1321499584 | 390 | K>E | No | gnomAD | |
| rs1404588845 | 391 | A>P | No | gnomAD | |
| rs375186550 | 391 | A>V | No |
ESP ExAC |
|
| rs1414218772 | 392 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2096792699 | 394 | N>S | No |
TOPMed gnomAD |
|
| rs763407504 | 395 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1337871005 | 397 | A>D | No | gnomAD | |
|
rs1459523623 COSM3867565 COSM3867564 |
397 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1248978535 | 400 | G>D | No | gnomAD | |
| rs2096754983 | 403 | P>S | No | gnomAD | |
| rs759451201 | 404 | L>F | No |
ExAC TOPMed gnomAD |
|
|
COSM427738 COSM427737 |
405 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs774348110 | 406 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs2096754814 | 408 | C>F | No | Ensembl | |
| rs2132434379 | 410 | K>R | No | Ensembl | |
|
COSM3439433 COSM3439432 |
412 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1675271 rs267602542 COSM1675272 |
412 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs367673751 | 413 | I>T | No |
ESP ExAC gnomAD |
|
| rs2096754660 | 415 | V>A | No | TOPMed | |
| rs868542617 | 415 | V>I | No |
TOPMed gnomAD |
|
| rs1034000675 | 416 | M>T | No | Ensembl | |
| rs747207369 | 416 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs2132434321 | 417 | E>Q | No | Ensembl | |
| rs780452282 | 422 | H>L | No |
ExAC gnomAD |
|
| rs2096754354 | 426 | I>M | No | Ensembl | |
| rs757660643 | 427 | Q>R | No |
ExAC TOPMed gnomAD |
|
|
RCV000438481 rs1057523190 CA16605661 |
431 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| rs1057523190 | 431 | E>Q | No |
TOPMed gnomAD |
|
|
CA5513173 rs377696913 RCV000419939 |
432 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1179462271 | 433 | G>D | No | gnomAD | |
| rs1179462271 | 433 | G>V | No | gnomAD | |
| rs2096709615 | 436 | P>L | No | gnomAD | |
| rs2096709545 | 437 | I>T | No | TOPMed | |
| rs763000886 | 437 | I>V | No |
ExAC gnomAD |
|
| TCGA novel | 440 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1018722967 | 441 | A>G | No | Ensembl | |
| rs147319073 | 443 | M>V | No |
ESP ExAC gnomAD |
|
| rs1381696686 | 445 | H>Q | No |
TOPMed gnomAD |
|
| rs1591675138 | 445 | H>R | No | Ensembl | |
| rs1029577692 | 446 | V>I | No |
TOPMed gnomAD |
|
| rs1029577692 | 446 | V>L | No |
TOPMed gnomAD |
|
|
rs1565651946 RCV000761722 |
447 | N>I | No |
ClinVar Ensembl dbSNP |
|
| rs1307970197 | 450 | S>P | No |
TOPMed gnomAD |
|
| rs143852499 | 452 | L>V | No |
ESP ExAC gnomAD |
|
| rs775504136 | 453 | M>I | No |
ExAC gnomAD |
|
| rs374196154 | 454 | H>D | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs774827889 | 454 | H>L | No |
ExAC TOPMed gnomAD |
|
| rs374196154 | 454 | H>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs374196154 | 454 | H>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771188095 COSM1702526 |
455 | H>Y | skin [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs1237003056 | 458 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
rs749878219 RCV003766815 CA208303092 RCV000503507 |
459 | P>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs749878219 | 459 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs2096708893 | 460 | N>D | No | Ensembl | |
| rs2096708739 | 462 | T>I | No | TOPMed | |
| rs576470720 | 462 | T>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3415150 COSM3415149 |
463 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1188174192 | 466 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2096651131 | 466 | G>R | No | Ensembl | |
| rs2096651079 | 468 | T>I | No | TOPMed | |
|
COSM1474691 COSM1474690 |
471 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs199517318 | 472 | M>K | No | Ensembl | |
| rs2096650962 | 472 | M>V | No | TOPMed | |
|
COSM3439431 COSM193458 |
475 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1198867491 | 475 | R>H | No | gnomAD | |
| rs767704217 | 477 | G>C | No |
ExAC TOPMed gnomAD |
|
|
COSM919314 COSM919313 |
477 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767704217 | 477 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs2096650784 | 478 | Q>H | No | TOPMed | |
|
COSM1297337 COSM1297338 |
479 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA16605660 RCV000426324 rs138255802 |
479 | A>G | No |
ClinGen ClinVar ESP dbSNP gnomAD |
|
| rs138255802 | 479 | A>V | No |
ESP gnomAD |
|
| TCGA novel | 480 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs755018091 | 482 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs377592480 | 483 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
|
rs1371476805 RCV001880354 |
483 | R>Q | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
COSM1348466 COSM1348467 rs377592480 |
483 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs2096650500 | 486 | V>L | No | gnomAD | |
| rs866520390 | 489 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs2096650383 | 490 | A>T | No | TOPMed | |
| TCGA novel | 490 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM193456 COSM5122738 rs773759951 |
494 | A>S | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs773759951 | 494 | A>T | No |
ExAC gnomAD |
|
| rs2132410100 | 505 | I>L | No | Ensembl | |
| rs1369136173 | 507 | A>G | No | gnomAD | |
| rs1348899338 | 508 | R>Q | No | TOPMed | |
| rs544832997 | 510 | G>V | No | Ensembl | |
| rs1021658000 | 513 | D>G | No | Ensembl | |
| rs1471647172 | 515 | V>L | No | gnomAD | |
| rs112210797 | 516 | Q>* | No | Ensembl | |
| rs1591613659 | 517 | Q>K | No | Ensembl | |
| rs1251794394 | 520 | Q>R | No | gnomAD | |
| rs1359856405 | 521 | Q>H | No | Ensembl | |
| rs2096621237 | 522 | G>V | No | Ensembl | |
| rs199910327 | 526 | N>K | No |
1000Genomes ExAC gnomAD |
|
| rs775033953 | 527 | A>P | No |
ExAC gnomAD |
|
| rs771557508 | 528 | A>V | No |
ExAC gnomAD |
|
| rs1355280309 | 530 | T>I | No | gnomAD | |
| rs1293523421 | 532 | G>A | No | gnomAD | |
| rs2096620840 | 537 | H>N | No | gnomAD | |
| rs868233344 | 538 | L>F | No | gnomAD | |
| rs868233344 | 538 | L>I | No | gnomAD | |
| rs749066468 | 540 | A>T | No |
ExAC gnomAD |
|
| rs866661111 | 540 | A>V | No | Ensembl | |
|
COSM919311 COSM919312 |
541 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1395573055 | 541 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs758776590 | 542 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs780344506 | 544 | H>N | No |
ExAC TOPMed gnomAD |
|
| rs370292854 | 544 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs558872148 | 544 | H>R | No |
1000Genomes ExAC |
|
| rs780344506 | 544 | H>Y | No |
ExAC TOPMed gnomAD |
|
|
RCV002542547 rs765531783 RCV001819187 |
545 | E>K | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs905702358 | 546 | D>E | No | TOPMed | |
| TCGA novel | 546 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1245472587 | 548 | A>T | No | gnomAD | |
| rs1044264932 | 548 | A>V | No | Ensembl | |
| rs967088925 | 549 | A>E | No |
TOPMed gnomAD |
|
| rs754197385 | 549 | A>T | No |
ExAC TOPMed gnomAD |
|
|
COSM1244970 rs967088925 COSM1244971 |
549 | A>V | Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1326497154 | 551 | L>P | No | gnomAD | |
|
RCV002030909 rs767946572 |
553 | D>G | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs753197813 | 553 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs753197813 | 553 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs1272997055 | 556 | A>S | No | gnomAD | |
|
COSM4756310 COSM4756309 rs1435545492 |
556 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs2132409660 | 557 | S>C | No | Ensembl | |
| rs2096619803 | 558 | L>V | No | TOPMed | |
| rs1328213193 | 559 | S>A | No |
TOPMed gnomAD |
|
|
COSM3439430 COSM3439429 |
559 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs375384470 | 560 | I>M | No |
ESP TOPMed gnomAD |
|
| rs201229814 | 560 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs375910388 | 561 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs1034688403 | 561 | T>I | No |
TOPMed gnomAD |
|
| rs1159998356 | 563 | K>E | No |
TOPMed gnomAD |
|
| rs1159998356 | 563 | K>Q | No |
TOPMed gnomAD |
|
| rs1418396973 | 564 | K>R | No |
TOPMed gnomAD |
|
|
COSM3439427 COSM3439428 rs867615351 |
565 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1186719801 | 565 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2096589218 | 566 | F>L | No | TOPMed | |
| rs1223340784 | 567 | T>S | No | gnomAD | |
| rs1485994054 | 569 | L>I | No | gnomAD | |
| rs2132403169 | 570 | H>N | No | Ensembl | |
|
COSM3439425 COSM3439426 |
570 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1225954107 | 573 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1341170462 | 575 | Y>C | No | gnomAD | |
|
COSM109251 rs149899720 |
576 | G>R | skin [Cosmic] | No |
cosmic curated Ensembl |
| rs764735009 | 580 | V>I | No |
ExAC gnomAD |
|
| rs140324936 | 581 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs2096588550 | 582 | N>D | No | TOPMed | |
| rs746924526 | 582 | N>S | No |
ExAC gnomAD |
|
|
rs367916566 RCV001295394 |
584 | L>M | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs374384073 | 586 | Q>R | No |
ESP ExAC gnomAD |
|
| rs1355441769 | 587 | K>R | No |
TOPMed gnomAD |
|
| rs749260486 | 588 | S>C | No |
ExAC gnomAD |
|
| rs1429870148 | 588 | S>I | No | gnomAD | |
| COSM5121946 | 589 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1319363351 | 590 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs778071089 | 590 | S>T | No |
ExAC gnomAD |
|
| rs1186685914 | 592 | D>E | No | gnomAD | |
| rs2096588029 | 592 | D>N | No | Ensembl | |
| rs2096587998 | 592 | D>V | No | Ensembl | |
| rs756243316 | 594 | A>S | No |
ExAC gnomAD |
|
| rs748546318 | 595 | G>E | No |
ExAC gnomAD |
|
| rs749409958 | 597 | S>R | No |
ExAC gnomAD |
|
|
CA5513018 RCV000438249 rs770048872 |
598 | G>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs781602707 | 599 | L>I | No |
ExAC TOPMed gnomAD |
|
|
rs1481019577 COSM1675269 |
599 | L>P | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated gnomAD |
| rs1427702911 | 604 | V>L | No |
TOPMed gnomAD |
|
| rs747311637 | 606 | A>T | No |
ExAC gnomAD |
|
| rs146760729 | 607 | H>R | No |
ESP ExAC |
|
| rs2096583086 | 609 | D>E | No | Ensembl | |
|
COSM3439422 COSM3439421 |
609 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs200194900 | 609 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs200194900 | 609 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs1382138301 | 610 | N>S | No |
TOPMed gnomAD |
|
| rs749987127 | 611 | Q>E | No |
ExAC gnomAD |
|
| rs1447557316 | 611 | Q>R | No | TOPMed | |
| rs1385502734 | 613 | V>A | No | gnomAD | |
| rs2096582960 | 616 | L>V | No | Ensembl | |
| rs201729829 | 617 | L>F | No |
1000Genomes ExAC gnomAD |
|
| rs1396046217 | 620 | Q>H | No | gnomAD | |
| rs1312129376 | 623 | S>T | No | TOPMed | |
| rs2096582750 | 625 | H>Y | No | gnomAD | |
| rs527712352 | 626 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2096582624 | 627 | A>G | No | gnomAD | |
|
COSM1638605 rs760564638 |
627 | A>T | stomach [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs540939855 | 628 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs759363336 | 629 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs1050505654 | 629 | K>R | No | Ensembl | |
| rs2096351422 | 631 | G>D | No | Ensembl | |
| rs753344992 | 633 | T>M | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 635 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1460565138 | 637 | I>V | No | TOPMed | |
| rs199700114 | 638 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs199700114 | 638 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs752579946 | 638 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1026211007 | 639 | A>G | No |
TOPMed gnomAD |
|
|
COSM919310 COSM919309 |
639 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2096350660 | 640 | K>E | No |
TOPMed gnomAD |
|
| TCGA novel | 640 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759581715 | 641 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs1326509353 | 643 | Q>R | No | gnomAD | |
| rs994699082 | 645 | D>H | No |
TOPMed gnomAD |
|
| rs1412381925 | 645 | D>V | No |
TOPMed gnomAD |
|
| rs766242874 | 646 | I>V | No |
ExAC gnomAD |
|
| rs1017693748 | 647 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2096350001 | 648 | T>A | No | TOPMed | |
|
rs1298869920 COSM1603594 |
649 | T>A | liver [Cosmic] | No |
cosmic curated TOPMed |
| rs550057429 | 649 | T>I | No |
1000Genomes ExAC gnomAD |
|
| rs760784868 | 650 | L>V | No |
ExAC gnomAD |
|
|
COSM3439418 COSM3439417 |
652 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1475833081 | 653 | Y>C | No | gnomAD | |
| rs2096349611 | 657 | A>G | No | TOPMed | |
|
COSM5132625 COSM5132624 |
657 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1185592093 | 658 | N>D | No | gnomAD | |
| rs1474901386 | 658 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs753858007 | 659 | A>S | No | Ensembl | |
| rs2096349371 | 660 | V>F | No | Ensembl | |
| rs1213584632 | 660 | V>G | No | gnomAD | |
| TCGA novel | 660 | V>Y | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 661 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs376666994 | 662 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs376666994 | 662 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs201236502 | 662 | R>W | No |
ExAC TOPMed gnomAD |
|
|
rs1591451043 RCV000986100 |
664 | G>* | No |
ClinVar Ensembl dbSNP |
|
|
COSM3439415 COSM3439416 |
664 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM5084067 | 664 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs777390296 | 664 | G>V | No |
ExAC gnomAD |
|
| rs2096348773 | 665 | I>V | No | TOPMed | |
| rs755841307 | 666 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs567422197 | 668 | V>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV001573967 rs567422197 |
668 | V>I | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1333784678 | 669 | H>R | No | gnomAD | |
| rs758299609 | 671 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs758299609 | 671 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs753966680 | 672 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs2096347859 | 673 | Q>L | No | TOPMed | |
| TCGA novel | 673 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs866360716 | 674 | E>K | No | gnomAD | |
| rs2096347618 | 675 | G>A | No | Ensembl | |
|
COSM3439411 COSM3439412 |
675 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1461007695 | 676 | H>R | No | gnomAD | |
| rs761026357 | 677 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs761026357 | 677 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs775581038 | 679 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs775581038 | 679 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1361357707 | 680 | V>L | No | gnomAD | |
| rs767722242 | 681 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs1002667407 | 681 | S>P | No | gnomAD | |
| rs767722242 | 681 | S>W | No |
ExAC TOPMed gnomAD |
|
| rs2096346563 | 684 | L>F | No | TOPMed | |
| rs149876045 | 685 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs149876045 | 685 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs149876045 | 685 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1273208051 | 686 | R>G | No | gnomAD | |
|
COSM427735 COSM427736 |
686 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 687 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769188895 | 688 | A>E | No |
ExAC gnomAD |
|
|
COSM273971 rs769188895 COSM273970 |
688 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs139111941 | 691 | N>K | No |
ESP TOPMed gnomAD |
|
|
COSM6066223 COSM6066222 |
693 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780727105 | 693 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs2096182902 | 700 | P>A | No | Ensembl | |
| rs1052253595 | 701 | L>F | No | Ensembl | |
| rs1212962775 | 702 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1361381671 | 705 | A>V | No | gnomAD | |
| rs2096182364 | 707 | E>Q | No | TOPMed | |
| rs751833275 | 710 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs2096181856 | 711 | N>I | No | Ensembl | |
| rs747880863 | 713 | A>T | No | TOPMed | |
|
RCV000438124 CA16606675 rs1057524054 |
715 | V>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM5126425 | 716 | L>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs369486517 | 717 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs750756003 | 719 | Q>E | No |
ExAC gnomAD |
|
| rs765703723 | 720 | G>E | No |
ExAC gnomAD |
|
|
COSM3439403 COSM3439404 |
720 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs147329178 RCV000880853 |
721 | A>S | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs147329178 | 721 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV003417413 rs267602541 |
722 | H>Y | No |
ClinVar Ensembl dbSNP |
|
| rs1328935675 | 723 | V>G | No |
TOPMed gnomAD |
|
| rs1379116328 | 724 | D>G | No |
TOPMed gnomAD |
|
| rs1565511484 | 725 | A>D | No | Ensembl | |
|
CA5512917 rs144051466 RCV000501755 COSM1348462 RCV001865595 |
725 | A>T | large_intestine [Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
| rs1565511484 | 725 | A>V | No | Ensembl | |
| rs1485879627 | 727 | T>R | No | gnomAD | |
| rs138539461 | 728 | K>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs2096179962 | 728 | K>N | No | TOPMed | |
| rs1591243292 | 729 | M>R | No | Ensembl | |
| rs2095840028 | 729 | M>V | No | Ensembl | |
|
COSM1244968 COSM1244969 |
730 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs748974513 COSM3439402 COSM3439401 |
730 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs2095839813 | 730 | G>V | No | TOPMed | |
| rs1374463105 | 733 | P>A | No |
TOPMed gnomAD |
|
| rs1591243023 | 737 | G>A | No | Ensembl | |
|
RCV001924287 rs769810351 |
739 | H>Y | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs747122745 | 740 | Y>C | No |
ExAC TOPMed gnomAD |
|
|
rs139066206 COSM106605 |
741 | G>E | skin [Cosmic] | No |
cosmic curated Ensembl |
| rs780258666 | 743 | I>N | No |
ExAC TOPMed gnomAD |
|
| rs780258666 | 743 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs1461482104 | 744 | K>Q | No | gnomAD | |
| rs1219424163 | 745 | I>M | No |
TOPMed gnomAD |
|
| rs2095839031 | 746 | V>A | No | Ensembl | |
| rs1370176023 | 746 | V>I | No | gnomAD | |
| rs2095838919 | 749 | L>M | No |
TOPMed gnomAD |
|
| rs2095838881 | 750 | L>F | No | Ensembl | |
|
COSM1348461 COSM1348460 |
750 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2095838765 | 751 | Q>R | No | Ensembl | |
| rs1314265133 | 752 | H>N | No |
TOPMed gnomAD |
|
| rs1418314463 | 753 | S>Y | No | gnomAD | |
|
COSM4014985 COSM4014984 |
754 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs190581397 | 754 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs901972071 | 757 | N>H | No | TOPMed | |
| rs2095838389 | 758 | A>T | No | gnomAD | |
| rs1180754024 | 759 | K>R | No | gnomAD | |
| rs2095838317 | 760 | T>A | No | TOPMed | |
| rs749277498 | 762 | N>K | No |
ExAC gnomAD |
|
| rs756675211 | 763 | G>R | No |
ExAC gnomAD |
|
| rs756675211 | 763 | G>W | No |
ExAC gnomAD |
|
| rs2095834198 | 764 | Y>C | No | TOPMed | |
| rs1302272887 | 765 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
COSM1321275 rs201704543 |
765 | T>M | ovary [Cosmic] | No |
cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| rs374120694 | 766 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2095833760 | 768 | H>R | No | TOPMed | |
|
COSM6129724 COSM6129725 |
770 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2095833674 | 770 | A>V | No | TOPMed | |
| rs1361135038 | 773 | Q>L | No | gnomAD | |
| rs765118960 | 776 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs768430532 | 778 | I>V | No |
ExAC gnomAD |
|
| rs745992707 | 781 | V>I | No |
ExAC gnomAD |
|
|
COSM3439399 COSM3439398 |
784 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2095833018 | 784 | Q>R | No | Ensembl | |
| TCGA novel | 786 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1429180131 | 787 | A>T | No |
TOPMed gnomAD |
|
| rs1324935540 | 788 | S>F | No | TOPMed | |
| rs191792213 | 789 | P>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs191792213 | 789 | P>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs191792213 | 789 | P>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs200760889 | 790 | N>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2095832481 | 791 | E>D | No | TOPMed | |
| rs757441585 | 792 | L>I | No | Ensembl | |
| rs770151106 | 793 | T>N | No |
ExAC gnomAD |
|
| rs1298459588 | 794 | V>L | No |
TOPMed gnomAD |
|
| rs2095816065 | 796 | G>A | No | gnomAD | |
| TCGA novel | 798 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs773438575 | 800 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs540732328 | 801 | G>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs769958418 | 801 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs540732328 | 801 | G>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs781384433 | 803 | A>G | No |
ExAC TOPMed gnomAD |
|
|
COSM340019 COSM340018 |
803 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs150210075 | 804 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs368634935 | 804 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM1182772 rs1324042095 COSM1182771 |
805 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1460956964 | 805 | R>H | No |
TOPMed gnomAD |
|
| rs1324042095 | 805 | R>S | No |
TOPMed gnomAD |
|
|
COSM4014982 COSM4014983 rs757859236 |
807 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs1219017706 | 810 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1468953135 | 812 | V>G | No | gnomAD | |
|
rs374740918 COSM684787 COSM684786 |
814 | T>I | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs756939302 | 818 | V>A | No |
ExAC gnomAD |
|
| rs2095814634 | 820 | E>G | No | TOPMed | |
| rs747811605 | 820 | E>K | No |
TOPMed gnomAD |
|
| rs2095814551 | 822 | T>A | No | Ensembl | |
| rs752583550 | 823 | M>I | No |
ExAC gnomAD |
|
| rs2095814309 | 823 | M>K | No | Ensembl | |
| rs140346169 | 824 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs140346169 | 824 | T>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1348286704 | 825 | T>K | No | gnomAD | |
| rs764328244 | 827 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs138631688 | 827 | T>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs185635311 | 832 | H>N | No | 1000Genomes | |
| rs775893389 | 832 | H>Q | No |
ExAC gnomAD |
|
|
COSM1348458 COSM1348459 |
833 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001896645 COSM3439397 rs2132296500 RCV002252720 COSM3439396 |
834 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar Ensembl dbSNP |
| rs867700697 | 837 | P>S | No | Ensembl | |
| rs202156367 | 839 | T>K | No |
ESP ExAC TOPMed gnomAD |
|
|
rs202156367 CA5512779 COSM3415145 RCV002527192 RCV000501394 COSM3415146 |
839 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs866157140 | 840 | M>I | No | Ensembl | |
| rs1565423165 | 841 | N>I | No | gnomAD | |
| rs374286315 | 843 | V>F | No | Ensembl | |
| rs374286315 | 843 | V>I | No | Ensembl | |
| rs1335568241 | 844 | L>F | No | TOPMed | |
| rs1335568241 | 844 | L>I | No | TOPMed | |
|
RCV001923958 rs2132296401 |
845 | D>A | No |
ClinVar Ensembl dbSNP |
|
|
rs2132296413 RCV001817271 |
845 | D>H | No |
ClinVar Ensembl dbSNP |
|
| rs60764245 | 848 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM4845724 COSM4845723 |
848 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1209882520 | 849 | D>E | No |
TOPMed gnomAD |
|
| rs2095637698 | 849 | D>H | No |
TOPMed gnomAD |
|
|
COSM3439393 COSM3439392 |
849 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs868617392 | 850 | E>K | No | Ensembl | |
|
COSM919306 rs538354013 |
852 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs538354013 | 852 | R>G | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs190358169 | 852 | R>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1333383664 | 854 | A>P | No | gnomAD | |
| rs775777081 | 857 | P>L | No |
ExAC gnomAD |
|
| rs2095631703 | 857 | P>S | No | Ensembl | |
| rs746450152 | 860 | L>F | No |
TOPMed gnomAD |
|
| rs2095631347 | 861 | S>G | No | gnomAD | |
| rs1304231159 | 861 | S>R | No |
TOPMed gnomAD |
|
| rs767992037 | 862 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs767992037 | 862 | D>Y | No |
ExAC TOPMed gnomAD |
|
| rs2132295650 | 863 | G>C | No | Ensembl | |
| rs775014916 | 864 | E>* | No |
ExAC TOPMed gnomAD |
|
| rs1378166776 | 864 | E>A | No |
TOPMed gnomAD |
|
|
rs775014916 COSM1182775 |
864 | E>K | large_intestine skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1565420649 | 865 | Y>C | No | Ensembl | |
| rs1376541135 | 869 | V>A | No |
TOPMed gnomAD |
|
| TCGA novel | 870 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs531162695 | 871 | E>K | No |
1000Genomes ExAC gnomAD |
|
| rs2094462735 | 872 | G>D | No | Ensembl | |
|
rs769387111 RCV001877158 |
872 | G>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
COSM3439390 COSM3439391 COSM3439389 |
873 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs564078262 RCV002207319 |
874 | D>E | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs2094462511 | 876 | M>V | No | TOPMed | |
| TCGA novel | 877 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM6034652 COSM6034653 rs770736443 COSM6034651 |
878 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| TCGA novel | 878 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1241077504 | 880 | T>I | No | gnomAD | |
| rs781403403 | 881 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs748282003 | 881 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs1165024054 | 881 | D>H | No | gnomAD | |
| rs113196400 | 882 | K>R | No | gnomAD | |
| rs112139545 | 884 | L>P | No | Ensembl | |
| rs747235391 | 884 | L>V | No |
ExAC gnomAD |
|
| rs267602540 | 886 | P>S | No |
ExAC gnomAD |
|
| rs267602540 | 886 | P>T | No |
ExAC gnomAD |
|
| rs2094461459 | 887 | Q>R | No | Ensembl | |
| rs1409662004 | 888 | D>E | No | gnomAD | |
| rs2094461253 | 889 | L>V | No |
TOPMed gnomAD |
|
| rs543423539 | 890 | K>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM3439386 COSM3439387 COSM3439388 rs753404464 |
891 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
COSM919304 COSM919303 COSM919305 |
892 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2094460995 | 893 | G>V | No | Ensembl | |
| rs1469465275 | 901 | G>S | No | TOPMed | |
| rs759409738 | 901 | G>V | No |
ExAC gnomAD |
|
|
rs773989200 RCV001936165 |
902 | Y>H | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1444230643 | 903 | M>T | No | TOPMed | |
| rs947259563 | 903 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| TCGA novel | 904 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1276742517 | 904 | G>R | No |
TOPMed gnomAD |
|
| rs551956898 | 905 | F>I | No |
ExAC TOPMed gnomAD |
|
| rs1438597241 | 906 | S>N | No |
TOPMed gnomAD |
|
| rs2094460171 | 906 | S>R | No | TOPMed | |
|
COSM4853998 rs773213347 COSM4853997 COSM4853999 |
908 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs768866559 | 909 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs2094459824 | 909 | A>T | No | gnomAD | |
| rs768866559 | 909 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs746291751 | 910 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs746291751 | 910 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs779132464 | 910 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs779132464 | 910 | R>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 910 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 911 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1331740779 COSM3952819 COSM3952820 |
912 | A>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
cosmic curated gnomAD |
| rs762868986 | 915 | R>C | No |
ExAC TOPMed gnomAD |
|
|
rs750209484 COSM1348456 COSM1348457 COSM1348455 |
915 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs750432488 COSM3439380 COSM3439379 COSM3439378 |
916 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs1057524507 CA16605659 RCV000427076 |
916 | S>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1367139240 | 918 | S>G | No | gnomAD | |
|
COSM919300 COSM919301 rs775705277 COSM919302 |
919 | S>L | Variant assessed as Somatic; MODERATE impact. endometrium breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1455640626 | 920 | D>G | No |
TOPMed gnomAD |
|
|
COSM3439376 rs1378776980 COSM3439375 COSM3439377 |
920 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1381120595 | 922 | S>F | No | gnomAD | |
| rs1171896113 | 923 | Y>H | No | TOPMed | |
| rs1368031572 | 924 | T>I | No | gnomAD | |
|
COSM4014979 COSM4014980 COSM4014981 |
925 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1627557 COSM1627558 rs759604035 |
926 | N>Y | liver [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs1375054028 | 927 | R>I | No | Ensembl | |
| rs1431463357 | 928 | S>I | No | gnomAD | |
| rs1430592359 | 928 | S>R | No |
TOPMed gnomAD |
|
| rs2094232156 | 930 | Y>C | No | Ensembl | |
| rs199828876 | 931 | A>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1241986 rs749695771 COSM1241985 |
932 | R>Q | oesophagus [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs771103668 | 932 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1352588258 | 934 | S>R | No |
TOPMed gnomAD |
|
| rs866434826 | 935 | M>I | No | Ensembl | |
| rs770393510 | 935 | M>L | No |
ExAC gnomAD |
|
| rs770393510 | 935 | M>V | No |
ExAC gnomAD |
|
| rs1390616856 | 937 | I>T | No | Ensembl | |
| TCGA novel | 939 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2094230745 | 942 | V>A | No |
TOPMed gnomAD |
|
| rs1300515456 | 943 | P>L | No |
TOPMed gnomAD |
|
| rs1224104906 | 945 | K>E | No | gnomAD | |
| rs1224104906 | 945 | K>Q | No | gnomAD | |
|
rs1347320438 RCV001816087 |
946 | E>A | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2094230190 | 946 | E>K | No | gnomAD | |
|
RCV002192957 rs201011715 |
947 | Q>P | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs201011715 | 947 | Q>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2092932044 | 948 | H>D | No | Ensembl | |
| rs960648239 | 948 | H>Q | No | TOPMed | |
| rs1203721621 | 949 | L>P | No | gnomAD | |
| rs1292332528 | 950 | T>P | No |
TOPMed gnomAD |
|
| rs774386100 | 952 | T>A | No |
ExAC gnomAD |
|
| rs961020793 | 953 | R>G | No |
TOPMed gnomAD |
|
|
rs1326736953 COSM3439370 COSM3439371 COSM3439369 RCV001907794 |
953 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar NCI-TCGA dbSNP gnomAD |
| rs1326736953 | 953 | R>M | No | gnomAD | |
| rs866539107 | 954 | E>K | No | Ensembl | |
| rs2092929768 | 957 | S>L | No | Ensembl | |
| rs1192586700 | 957 | S>P | No | gnomAD | |
| rs2092929613 | 958 | D>H | No | Ensembl | |
| rs763151936 | 959 | S>F | No |
ExAC gnomAD |
|
| TCGA novel | 959 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1492306 COSM1492307 COSM1492305 |
960 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM5131005 | 961 | R>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1401729393 | 962 | H>P | No | gnomAD | |
| rs1401729393 | 962 | H>R | No | gnomAD | |
| rs2092928836 | 964 | S>G | No | TOPMed | |
|
COSM1736742 rs2092928683 COSM1736743 |
965 | W>C | central_nervous_system [Cosmic] | No |
cosmic curated gnomAD |
|
COSM3439367 COSM3439368 COSM3439366 |
968 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2092928407 | 969 | T>N | No | Ensembl | |
| rs568713836 | 971 | D>Y | No | gnomAD | |
| rs1004511603 | 972 | N>S | No |
TOPMed gnomAD |
|
| rs770063604 | 974 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs1474592573 | 976 | V>A | No |
TOPMed gnomAD |
|
| rs2092927200 | 978 | S>N | No | TOPMed | |
| rs1427146694 | 979 | P>L | No | TOPMed | |
| rs748492773 | 979 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs2092926508 | 980 | I>M | No | Ensembl | |
| rs375406302 | 980 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs769098584 | 981 | H>R | No |
ExAC gnomAD |
|
|
COSM3867554 COSM3867555 rs1255023438 COSM3867553 |
982 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1214313306 | 984 | F>I | No | TOPMed | |
| rs2092463568 | 987 | S>I | No | Ensembl | |
| rs1262017485 | 988 | F>V | No |
TOPMed gnomAD |
|
| rs2092462918 | 990 | V>L | No | TOPMed | |
| TCGA novel | 990 | V>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4014977 COSM4014976 COSM4014978 |
992 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768847505 | 993 | R>T | No |
ExAC TOPMed gnomAD |
|
|
RCV000479360 CA16618963 rs1064796890 |
995 | G>missing | No |
ClinGen ClinVar dbSNP |
|
|
rs1064796890 COSM5141957 |
995 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs747384432 | 997 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs140926595 | 998 | R>T | No |
ESP TOPMed gnomAD |
|
| rs1565069945 | 999 | G>A | No | Ensembl | |
|
COSM4014974 rs372646492 COSM4014973 COSM4014975 |
1001 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs368664601 | 1001 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs2092460041 | 1002 | H>R | No | TOPMed | |
| rs377311549 | 1004 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2092459200 | 1005 | M>I | No | TOPMed | |
| rs868125539 | 1006 | R>G | No |
TOPMed gnomAD |
|
| rs371602377 | 1008 | I>F | No |
ESP ExAC gnomAD |
|
| rs371602377 | 1008 | I>V | No |
ESP ExAC gnomAD |
|
|
COSM3439364 COSM3439363 COSM3439365 |
1011 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
TCGA novel rs2132095747 |
1012 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA 1000Genomes |
| rs1293690037 | 1012 | R>H | No |
TOPMed gnomAD |
|
| rs2092457774 | 1014 | C>S | No | TOPMed | |
| rs755836602 | 1015 | T>M | No |
ExAC gnomAD |
|
| rs759335118 | 1017 | P>L | No |
ExAC gnomAD |
|
| rs750678133 | 1018 | T>S | No |
ExAC gnomAD |
|
| rs1483512601 | 1019 | R>G | No | gnomAD | |
| rs1199911843 | 1019 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1285701153 | 1021 | T>N | No |
TOPMed gnomAD |
|
| rs1590115785 | 1021 | T>P | No | Ensembl | |
| rs764659417 | 1023 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs761323592 | 1023 | R>H | No |
ExAC gnomAD |
|
|
COSM465815 COSM465813 COSM465814 |
1023 | R>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1431092037 | 1028 | H>N | No | gnomAD | |
|
rs772604047 RCV000500714 CA5512573 |
1028 | H>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1431092037 | 1028 | H>Y | No | gnomAD | |
| rs1331681162 | 1031 | A>P | No | gnomAD | |
| rs1590115308 | 1032 | N>T | No | TOPMed | |
| rs774072811 | 1033 | P>S | No |
ExAC gnomAD |
|
| rs375154982 | 1034 | P>T | No |
ESP TOPMed |
|
| rs2092452523 | 1035 | P>A | No | Ensembl | |
| rs1178423255 | 1035 | P>R | No | gnomAD | |
|
COSM1686127 COSM1686128 COSM39170 |
1035 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3439361 COSM3439360 rs557148326 COSM3439362 |
1036 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD |
| rs370560692 | 1036 | M>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2092451680 | 1036 | M>V | No | Ensembl | |
| rs1476536819 | 1040 | E>K | No | gnomAD | |
| rs1164688644 | 1042 | L>F | No | TOPMed | |
|
COSM3439358 COSM3439359 rs970527330 COSM3439357 |
1042 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs1207814780 | 1044 | S>R | No | gnomAD | |
|
rs1590114516 COSM1321277 COSM1321279 COSM1321278 |
1047 | V>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs554236298 | 1048 | E>D | No | Ensembl | |
| COSM5084065 | 1049 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2092448930 | 1050 | G>D | No | TOPMed | |
| rs2092449127 | 1050 | G>R | No | TOPMed | |
| rs1455393724 | 1052 | A>S | No | TOPMed | |
|
COSM4014972 COSM4014971 COSM4014970 |
1052 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1296631664 | 1053 | G>E | No | TOPMed | |
| rs368218301 | 1054 | A>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs368218301 | 1054 | A>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM3867550 COSM3867551 COSM3867552 |
1058 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1590072389 | 1059 | P>S | No | TOPMed | |
| rs1590072389 | 1059 | P>T | No | TOPMed | |
| rs762630305 | 1060 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs762630305 | 1060 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs2092121582 | 1062 | V>* | No | Ensembl | |
| rs1181488016 | 1062 | V>A | No | Ensembl | |
| rs764672185 | 1062 | V>M | No |
ExAC TOPMed gnomAD |
|
|
COSM3439352 COSM3439353 COSM3439351 |
1063 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4897032 rs1590071951 COSM4897033 COSM4897031 |
1065 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs1217277221 | 1066 | H>Q | No |
TOPMed gnomAD |
|
| rs1282511782 | 1067 | F>S | No | gnomAD | |
| rs1321351866 | 1067 | F>V | No | gnomAD | |
| rs1223897919 | 1068 | G>E | No | gnomAD | |
| rs761319946 | 1069 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs1473474229 | 1070 | M>L | No |
TOPMed gnomAD |
|
| rs1381936164 | 1071 | R>G | No | gnomAD | |
| rs1290760313 | 1073 | K>E | No |
TOPMed gnomAD |
|
| rs1464566636 | 1075 | R>G | No | gnomAD | |
| TCGA novel | 1076 | E>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746969179 | 1077 | L>H | No |
ExAC TOPMed gnomAD |
|
| rs746969179 | 1077 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs768568696 | 1077 | L>V | No |
ExAC TOPMed gnomAD |
|
| rs2092114748 | 1078 | I>T | No | TOPMed | |
| rs1219084096 | 1078 | I>V | No | gnomAD | |
| rs2092114472 | 1079 | V>F | No | TOPMed | |
|
COSM3867549 rs775324952 COSM3867548 COSM3867547 |
1081 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs771794834 | 1081 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1427603364 | 1082 | S>N | No | gnomAD | |
| rs1187791943 | 1085 | G>S | No |
TOPMed gnomAD |
|
| rs933494391 | 1086 | E>D | No | Ensembl | |
| rs778153397 | 1086 | E>K | No |
ExAC gnomAD |
|
| rs2092112164 | 1087 | T>P | No | TOPMed | |
| rs1454600743 | 1094 | D>E | No | Ensembl | |
| rs1325585300 | 1094 | D>G | No | gnomAD | |
|
COSM1561276 COSM1561278 COSM1561277 |
1097 | N>K | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 1098 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs148706376 | 1099 | D>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM919298 COSM919299 COSM919297 |
1100 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1327275002 | 1101 | T>I | No |
TOPMed gnomAD |
|
|
COSM3439348 COSM3439349 COSM3439350 rs376941205 |
1102 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP NCI-TCGA TOPMed gnomAD |
| rs2092108977 | 1105 | N>T | No | Ensembl | |
| rs144288062 | 1106 | G>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs2092108299 | 1106 | G>D | No | Ensembl | |
| rs144288062 | 1106 | G>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1394935003 | 1107 | M>I | No |
TOPMed gnomAD |
|
| rs750013982 | 1107 | M>R | No |
ExAC gnomAD |
|
| rs781087011 | 1109 | E>A | No | Ensembl | |
|
rs2132085924 RCV001814346 |
1110 | E>missing | No |
ClinVar dbSNP |
|
| rs1445883154 | 1111 | L>F | No | gnomAD | |
| rs2087227222 | 1113 | S>R | No | gnomAD | |
| rs2087225351 | 1116 | E>V | No | TOPMed | |
| rs1287891892 | 1117 | L>S | No | gnomAD | |
| rs2087223426 | 1118 | G>R | No | gnomAD | |
|
COSM1348449 COSM1348451 COSM1348450 |
1119 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs564560400 | 1120 | K>E | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 1120 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1120 | K>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1120 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759013111 COSM1348448 COSM1348446 COSM1348447 |
1121 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs759013111 | 1121 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs750774209 | 1121 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs2087219969 | 1122 | I>F | No | Ensembl | |
| TCGA novel | 1122 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1047101173 | 1123 | C>G | No | TOPMed | |
| rs1425435452 | 1124 | R>S | No | TOPMed | |
| rs756872751 | 1126 | I>M | No |
ExAC gnomAD |
|
| rs1490252958 | 1126 | I>T | No | gnomAD | |
|
rs1057524244 CA16605658 RCV000432825 |
1126 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1248267868 | 1127 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1279017724 | 1128 | K>E | No | gnomAD | |
| rs2087213819 | 1128 | K>N | No | Ensembl | |
| rs1240471979 | 1129 | D>A | No | gnomAD | |
| rs924624032 | 1129 | D>E | No |
TOPMed gnomAD |
|
| rs375745159 | 1129 | D>Y | No |
ESP TOPMed |
|
| rs764486962 | 1133 | Y>S | No |
ExAC TOPMed gnomAD |
|
| rs1296721952 | 1134 | F>L | No | Ensembl | |
| rs2087208931 | 1136 | V>A | No | TOPMed | |
| rs2087207055 | 1137 | V>A | No | gnomAD | |
| rs142899762 | 1137 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
| rs1309952978 | 1138 | S>C | No | TOPMed | |
|
COSM3439346 COSM3439347 COSM3439345 |
1138 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2087205316 | 1139 | R>Q | No | TOPMed | |
| rs767350803 | 1139 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1382219511 | 1142 | Q>E | No | gnomAD | |
| rs950177051 | 1144 | S>N | No | Ensembl | |
| rs1466487972 | 1145 | N>H | No | TOPMed | |
| rs774262762 | 1147 | I>M | No |
ExAC gnomAD |
|
| rs770886250 | 1149 | P>H | No |
ExAC gnomAD |
|
| rs2087200584 | 1149 | P>S | No |
TOPMed gnomAD |
|
| rs2087198825 | 1151 | G>D | No | TOPMed | |
|
COSM4837214 COSM4837212 COSM4837213 |
1151 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3439342 COSM3439343 COSM3439344 |
1152 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1247994481 | 1152 | G>V | No | TOPMed | |
| rs1479949640 | 1155 | S>G | No | gnomAD | |
| rs777009842 | 1157 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs1424116118 | 1158 | T>I | No |
TOPMed gnomAD |
|
| rs780241305 | 1160 | P>T | No |
ExAC gnomAD |
|
| rs2087193444 | 1161 | L>F | No | gnomAD | |
| COSM5167898 | 1161 | L>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM2148713 COSM2148714 COSM2148712 |
1163 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs772438142 | 1163 | Q>E | No | ExAC | |
|
COSM3867538 COSM3867540 COSM3867539 |
1165 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs757641458 | 1166 | F>S | No |
ExAC gnomAD |
|
| TCGA novel | 1168 | E>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1223290898 | 1168 | E>V | No | gnomAD | |
| rs917333415 | 1172 | T>A | No |
TOPMed gnomAD |
|
|
rs1285570735 COSM919291 COSM919292 COSM919293 |
1174 | R>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
COSM919289 rs142673853 COSM107614 COSM919290 |
1176 | R>* | Variant assessed as Somatic; HIGH impact. large_intestine endometrium skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
rs1057524303 RCV000428280 CA16605889 |
1176 | R>Q | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs1334115099 | 1184 | V>L | No | gnomAD | |
| rs778257199 | 1185 | P>S | No |
ExAC gnomAD |
|
| rs371681236 | 1186 | D>E | No | gnomAD | |
| rs1406706625 | 1186 | D>Y | No |
TOPMed gnomAD |
|
|
COSM3867535 COSM3867537 COSM3867536 |
1187 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs199713029 | 1188 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000440618 rs747872965 CA5512442 |
1192 | I>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| rs747872965 | 1192 | I>T | No |
ExAC gnomAD |
|
| rs2086799022 | 1192 | I>V | No | gnomAD | |
|
COSM3439337 COSM3439336 COSM3439338 rs780524754 |
1194 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs754555183 | 1196 | K>E | No |
ExAC gnomAD |
|
| rs1241439588 | 1196 | K>R | No | gnomAD | |
| rs2086795060 | 1199 | F>S | No | TOPMed | |
| rs1183037503 | 1200 | S>G | No | gnomAD | |
| rs138308296 | 1202 | I>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs10994189 | 1202 | I>M | No | Ensembl | |
| rs758470343 | 1204 | T>I | No |
ExAC gnomAD |
|
| rs750165543 | 1207 | P>Q | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1210 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3686970 COSM3686972 COSM3686971 |
1210 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs760770674 | 1213 | H>R | No |
ExAC gnomAD |
|
| rs1370873076 | 1218 | M>V | No | TOPMed | |
| rs2086787246 | 1219 | T>A | No |
TOPMed gnomAD |
|
| rs2086786786 | 1219 | T>I | No | Ensembl | |
| rs367603857 | 1220 | I>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs774481623 | 1220 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs367603857 | 1220 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs899181117 | 1221 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1329295963 | 1222 | V>A | No | gnomAD | |
| rs1329295963 | 1222 | V>G | No | gnomAD | |
|
rs749846661 COSM5370912 COSM5370911 COSM5370910 |
1223 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
COSM919286 COSM919288 COSM919287 |
1223 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1383565358 | 1224 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1172697148 | 1225 | P>S | No |
TOPMed gnomAD |
|
| rs1445239454 | 1227 | G>A | No |
TOPMed gnomAD |
|
|
rs1445239454 COSM3439331 COSM3439332 COSM3439330 |
1227 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs267602539 | 1227 | G>R | No |
ESP TOPMed gnomAD |
|
| rs747702473 | 1228 | E>G | No |
ExAC gnomAD |
|
| rs747702473 | 1228 | E>V | No |
ExAC gnomAD |
|
| rs780905602 | 1229 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs780905602 | 1229 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs1176044346 | 1231 | S>A | No | gnomAD | |
| rs528806976 | 1231 | S>F | No |
1000Genomes ExAC gnomAD |
|
| rs2086775275 | 1232 | N>H | No | gnomAD | |
| rs370758339 | 1232 | N>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs370758339 | 1232 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1234 | Y>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1554898991 CA376986847 RCV000499970 |
1235 | K>I | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs1554898991 | 1235 | K>R | No | TOPMed | |
| rs2086772098 | 1236 | G>E | No |
TOPMed gnomAD |
|
| TCGA novel | 1236 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1564906864 | 1237 | D>N | No | Ensembl | |
| rs886521612 | 1238 | T>A | No | gnomAD | |
| rs1370785040 | 1239 | T>A | No | TOPMed | |
| rs1221100763 | 1239 | T>I | No | gnomAD | |
| rs1474890342 | 1240 | P>T | No | TOPMed | |
|
COSM6129727 COSM6129726 COSM6129728 |
1241 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs142538212 | 1241 | N>H | No | ESP | |
| rs568515869 | 1241 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs568515869 | 1241 | N>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1245 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM4014956 COSM4014955 COSM4014957 |
1250 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs745737001 | 1253 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs771920131 | 1255 | A>T | No | Ensembl | |
| rs2132017559 | 1260 | I>S | No | Ensembl | |
|
COSM6129729 COSM6129730 COSM6129731 |
1261 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs374483310 | 1262 | G>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1468690562 | 1264 | T>A | No | gnomAD | |
|
COSM3807422 COSM3807421 COSM3807420 |
1265 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4014953 COSM4014954 rs753652746 COSM4014952 |
1267 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs755160501 | 1269 | I>L | No |
ExAC gnomAD |
|
| rs751807238 | 1270 | K>E | No |
ExAC gnomAD |
|
| rs2086355732 | 1270 | K>T | No | TOPMed | |
|
rs1589763169 RCV001008580 |
1271 | D>missing | No |
ClinVar dbSNP |
|
|
COSM3439329 COSM3439327 COSM3439328 |
1271 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs766394430 | 1272 | C>F | No |
ExAC TOPMed gnomAD |
|
| rs766394430 | 1272 | C>Y | No |
ExAC TOPMed gnomAD |
|
| rs371069694 | 1274 | S>C | No |
ESP TOPMed gnomAD |
|
|
COSM1505506 COSM1505504 COSM1505505 |
1274 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000502466 rs371069694 CA208251584 |
1274 | S>Y | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
| rs765764518 | 1276 | T>A | No |
ExAC gnomAD |
|
| rs1233638360 | 1278 | N>S | No |
TOPMed gnomAD |
|
| rs1366097837 | 1281 | A>G | No | gnomAD | |
| rs1381736715 | 1281 | A>T | No | gnomAD | |
| rs2086254541 | 1284 | W>C | No | TOPMed | |
| TCGA novel | 1284 | W>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749263078 | 1286 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs749263078 | 1286 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs2086253387 | 1287 | D>N | No | TOPMed | |
|
rs797045234 RCV000193194 CA206510 |
1289 | H>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs755920926 | 1289 | H>Q | No |
ExAC gnomAD |
|
| rs777500859 | 1289 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs751719593 | 1293 | E>V | No |
ExAC gnomAD |
|
| rs2086249612 | 1294 | T>I | No | TOPMed | |
| rs2086249084 | 1295 | V>A | No | TOPMed | |
| rs780325060 | 1296 | G>E | No |
ExAC gnomAD |
|
| rs1428759125 | 1296 | G>R | No |
1000Genomes gnomAD |
|
| rs1589757701 | 1297 | L>S | No | Ensembl | |
| rs867697196 | 1298 | A>G | No | gnomAD | |
| rs867697196 | 1298 | A>V | No | gnomAD | |
| rs138099761 | 1299 | T>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs905166516 | 1300 | Q>R | No | TOPMed | |
| rs758763291 | 1301 | L>P | No | Ensembl | |
| rs1425482771 | 1303 | R>G | No |
TOPMed gnomAD |
|
| rs765277212 | 1303 | R>K | No |
ExAC gnomAD |
|
|
COSM3439324 COSM3439325 COSM3439326 |
1304 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764495480 | 1306 | I>M | No |
ExAC gnomAD |
|
|
rs754420265 RCV000428346 CA5512370 |
1306 | I>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs754420265 | 1306 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs2086240682 | 1306 | I>V | No | Ensembl | |
| rs761127387 | 1307 | C>R | No |
ExAC TOPMed gnomAD |
|
| rs2132016073 | 1309 | P>L | No | Ensembl | |
| rs2132016080 | 1309 | P>S | No | Ensembl | |
| TCGA novel | 1313 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1315 | V>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750503744 | 1317 | F>S | No | Ensembl | |
| rs1358884506 | 1320 | M>T | No | gnomAD | |
| rs767184583 | 1321 | N>S | No |
ExAC gnomAD |
|
| TCGA novel | 1322 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1247673102 | 1322 | D>G | No | gnomAD | |
| rs773881233 | 1323 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs773881233 | 1323 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1426183109 | 1326 | S>C | No | Ensembl | |
| rs1426183109 | 1326 | S>F | No | Ensembl | |
| rs547608302 | 1327 | S>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs747928146 | 1328 | L>W | No |
ExAC gnomAD |
|
|
COSM919283 rs1389471649 COSM919284 COSM919285 |
1329 | R>* | Variant assessed as Somatic; HIGH impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated gnomAD |
|
rs2086228400 COSM3439321 COSM3439322 COSM3439323 |
1329 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs758619117 | 1330 | C>Y | No |
ExAC gnomAD |
|
|
COSM919282 COSM919280 COSM919281 |
1331 | F>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2132015934 | 1331 | F>S | No | Ensembl | |
| rs1361949107 | 1333 | M>V | No |
TOPMed gnomAD |
|
| rs571326921 | 1336 | D>E | No | 1000Genomes | |
| rs1036443241 | 1338 | V>A | No | Ensembl | |
| rs757426610 | 1338 | V>L | No |
ExAC gnomAD |
|
| rs757426610 | 1338 | V>M | No |
ExAC gnomAD |
|
|
COSM6129733 COSM6129734 COSM6129732 |
1341 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2086223138 | 1342 | L>S | No | gnomAD | |
| rs1253684161 | 1342 | L>V | No | gnomAD | |
| rs756741079 | 1343 | E>G | No |
ExAC gnomAD |
|
| rs764695552 | 1343 | E>K | No |
ExAC gnomAD |
|
| rs1211661757 | 1346 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1346 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2086220356 | 1348 | F>S | No | Ensembl | |
|
COSM3867526 COSM3867527 COSM3867528 rs2086219851 |
1349 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
|
rs1057523750 CA16606023 RCV000437996 |
1351 | V>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs759186781 | 1352 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs759186781 | 1352 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs889360867 | 1352 | A>V | No | Ensembl | |
| rs1564890484 | 1353 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs1382187960 | 1353 | R>K | No | gnomAD | |
|
COSM6129737 COSM6129735 COSM6129736 |
1358 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs750102431 | 1359 | V>A | No |
ExAC gnomAD |
|
| rs758009262 | 1359 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs758009262 | 1359 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs758009262 | 1359 | V>L | No |
ExAC TOPMed gnomAD |
|
|
RCV000499923 RCV000970459 rs200556767 CA5512306 |
1362 | G>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
COSM224706 COSM224707 rs200556767 |
1362 | G>E | NS skin [Cosmic] | No |
cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
| rs1313679889 | 1362 | G>R | No | TOPMed | |
| rs2085841765 | 1363 | K>N | No | TOPMed | |
| rs2085842390 | 1363 | K>R | No | TOPMed | |
| rs866927987 | 1364 | P>L | No | Ensembl | |
| rs142110623 | 1364 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs142110623 | 1364 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2085838946 | 1365 | I>T | No | Ensembl | |
| rs1481885907 | 1365 | I>V | No | gnomAD | |
| rs753456521 | 1366 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs1444576681 | 1369 | C>F | No |
TOPMed gnomAD |
|
| rs1444576681 | 1369 | C>S | No |
TOPMed gnomAD |
|
| rs1288955555 | 1369 | C>W | No | gnomAD | |
| rs1049382779 | 1370 | Y>C | No | Ensembl | |
| rs908094412 | 1374 | A>G | No |
TOPMed gnomAD |
|
| rs775391629 | 1374 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs763216950 | 1376 | L>P | No |
ExAC gnomAD |
|
| rs773581870 | 1379 | G>R | No |
ExAC gnomAD |
|
| rs2085828298 | 1381 | Q>R | No | TOPMed | |
| rs2085825552 | 1384 | V>A | No | TOPMed | |
| rs748168844 | 1384 | V>I | No |
ExAC gnomAD |
|
| rs2085824853 | 1386 | N>I | No | gnomAD | |
| rs2085824194 | 1387 | F>V | No | Ensembl | |
| rs1416535602 | 1389 | S>P | No | gnomAD | |
| TCGA novel | 1389 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs79642659 | 1392 | E>K | No | Ensembl | |
|
rs1172890548 COSM3867523 COSM3867525 COSM3867524 |
1394 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
| rs1190221436 | 1394 | R>S | No | gnomAD | |
| rs1404299717 | 1396 | P>S | No | TOPMed | |
| rs781387552 | 1399 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs2085817164 | 1400 | K>E | No | TOPMed | |
| rs369947708 | 1401 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1179283827 | 1403 | D>H | No | TOPMed | |
| rs762141783 | 1406 | Q>H | No |
ExAC TOPMed gnomAD |
|
|
COSM3807418 COSM3807417 COSM3807419 |
1406 | Q>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1247939077 | 1408 | P>L | No | gnomAD | |
| TCGA novel | 1411 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768806179 | 1411 | R>H | No |
ExAC TOPMed gnomAD |
|
|
COSM3867522 COSM3867520 COSM3867521 |
1414 | F>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs775984786 | 1415 | L>Q | No |
ExAC TOPMed gnomAD |
|
| rs746218623 | 1417 | E>A | No |
ExAC gnomAD |
|
| rs1402768045 | 1418 | P>L | No | TOPMed | |
| rs200259898 | 1419 | K>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs201213520 | 1420 | T>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV002002182 rs201213520 |
1420 | T>R | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs777097166 | 1421 | T>I | No |
ExAC gnomAD |
|
| rs1287158717 | 1422 | K>E | No | gnomAD | |
| rs2085561220 | 1425 | P>L | No | TOPMed | |
| rs752615413 | 1425 | P>S | No |
ExAC gnomAD |
|
| rs2085560613 | 1428 | A>S | No | Ensembl | |
|
rs767554170 COSM919274 COSM919276 COSM919275 |
1428 | A>V | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1432 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1589727896 | 1433 | N>S | No | Ensembl | |
| rs1375587740 | 1435 | T>A | No | gnomAD | |
| COSM5122737 | 1435 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1375587740 | 1435 | T>P | No | gnomAD | |
| rs2085555276 | 1438 | A>T | No | Ensembl | |
|
CA16606671 rs1057522936 RCV000432623 |
1441 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs751571796 COSM4775456 |
1442 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs2085440592 | 1444 | E>G | No | gnomAD | |
| rs1348947924 | 1444 | E>Q | No |
TOPMed gnomAD |
|
|
rs1589722025 RCV000994403 |
1446 | D>H | No |
ClinVar Ensembl dbSNP |
|
| rs779660118 | 1447 | Q>* | No |
ExAC gnomAD |
|
| rs2085437362 | 1449 | D>H | No | gnomAD | |
| rs746879802 | 1452 | E>K | No |
ExAC gnomAD |
|
| rs2084967838 | 1455 | D>N | No | gnomAD | |
|
rs2084966849 RCV001093306 |
1456 | R>missing | No |
ClinVar dbSNP |
|
|
COSM3439318 rs758325260 COSM3439320 COSM3439319 |
1457 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs750211703 | 1459 | S>C | No |
ExAC gnomAD |
|
| rs750211703 | 1459 | S>G | No |
ExAC gnomAD |
|
| rs2084965248 | 1459 | S>N | No | TOPMed | |
| TCGA novel | 1460 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs373826882 | 1461 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs373826882 | 1461 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs767525322 | 1462 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs767525322 | 1462 | S>Y | No |
ExAC TOPMed gnomAD |
|
| rs1025625423 | 1463 | L>V | No | TOPMed | |
| rs973173687 | 1464 | A>T | No | TOPMed | |
| TCGA novel | 1465 | L>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs763194402 | 1466 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs751656963 | 1466 | R>H | No |
ExAC TOPMed gnomAD |
|
|
rs751656963 COSM324706 COSM324707 |
1466 | R>L | lung [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs763419037 | 1468 | R>C | No |
ExAC TOPMed gnomAD |
|
| rs1327946540 | 1469 | Y>C | No |
TOPMed gnomAD |
|
| TCGA novel | 1469 | Y>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1226462921 | 1469 | Y>H | No |
TOPMed gnomAD |
|
| rs2084956848 | 1470 | S>G | No | TOPMed | |
| rs1205250405 | 1470 | S>R | No |
TOPMed gnomAD |
|
| rs761501450 | 1470 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs776429241 | 1471 | Y>H | No |
ExAC gnomAD |
|
| rs1589699272 | 1473 | T>A | No | Ensembl | |
| rs200130698 | 1475 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs200130698 | 1475 | P>R | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1476 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774916221 | 1476 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs1251910599 | 1477 | M>I | No |
TOPMed gnomAD |
|
| rs2084952174 | 1478 | I>V | No | TOPMed | |
| COSM3790866 | 1479 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs758415345 | 1480 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs546797056 | 1480 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs1204528432 | 1481 | S>I | No | gnomAD | |
| rs1309058176 | 1481 | S>R | No | gnomAD | |
| rs1287582962 | 1482 | T>A | No | gnomAD | |
| rs1227652148 | 1483 | G>R | No | gnomAD | |
| rs2083829040 | 1484 | A>G | No | Ensembl | |
| rs2083829674 | 1484 | A>T | No |
TOPMed gnomAD |
|
|
COSM3665792 rs2083827376 |
1485 | T>A | liver [Cosmic] | No |
cosmic curated gnomAD |
| rs1438058349 | 1485 | T>I | No |
TOPMed gnomAD |
|
|
COSM3985674 rs1294897783 |
1486 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs2131987018 | 1487 | S>Y | No | Ensembl | |
| rs1308715194 | 1488 | L>F | No | gnomAD | |
| rs754228243 | 1488 | L>P | No |
ExAC gnomAD |
|
| rs377612520 | 1490 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs377612520 | 1490 | T>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs773904676 | 1490 | T>S | No |
ExAC gnomAD |
|
| rs1346034207 | 1491 | T>A | No | gnomAD | |
| rs762918367 | 1493 | S>T | No | ExAC | |
| rs769497615 | 1494 | Y>* | No |
ExAC gnomAD |
|
| rs772951283 | 1494 | Y>N | No |
ExAC gnomAD |
|
| rs572626990 | 1495 | K>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs200674971 | 1496 | P>T | No | gnomAD | |
| TCGA novel | 1498 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1220826386 | 1498 | F>S | No | gnomAD | |
| rs2083812708 | 1498 | F>V | No | Ensembl | |
| TCGA novel | 1499 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1274824103 | 1500 | T>A | No | gnomAD | |
| rs2083810031 | 1501 | R>G | No |
TOPMed gnomAD |
|
| rs772398274 | 1502 | P>R | No |
ExAC gnomAD |
|
|
rs142748584 RCV000487184 CA5512165 |
1502 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1424467207 | 1504 | Q>E | No |
TOPMed gnomAD |
|
| rs2083807175 | 1505 | S>C | No | TOPMed | |
| rs2083807175 | 1505 | S>F | No | TOPMed | |
| rs1225655719 | 1506 | W>C | No | gnomAD | |
| rs1307913306 | 1506 | W>R | No | gnomAD | |
| COSM684791 | 1509 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1365666538 | 1509 | A>T | No | gnomAD | |
| rs779177678 | 1510 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs745921900 | 1510 | P>S | No |
ExAC gnomAD |
|
| rs2083800876 | 1513 | V>M | No | TOPMed | |
| rs1040778793 | 1514 | P>S | No |
TOPMed gnomAD |
|
| rs1040778793 | 1514 | P>T | No |
TOPMed gnomAD |
|
| COSM3439317 | 1516 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1373123275 | 1516 | P>T | No |
TOPMed gnomAD |
|
| TCGA novel | 1517 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs374149883 | 1518 | K>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1422514997 | 1520 | G>S | No | gnomAD | |
| rs759278856 | 1521 | F>V | No |
ExAC gnomAD |
|
| rs911696891 | 1524 | L>V | No | TOPMed | |
| rs2083790410 | 1525 | S>P | No | Ensembl | |
| rs751038169 | 1526 | S>N | No |
ExAC gnomAD |
|
|
rs765903434 RCV000479975 CA5512153 |
1527 | S>Y | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs761500975 | 1529 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs761500975 | 1529 | S>F | No |
ExAC TOPMed gnomAD |
|
|
CA205529 rs200919668 RCV000192603 RCV002517910 |
1529 | S>P | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs139640225 | 1530 | N>S | No |
ESP ExAC gnomAD |
|
|
rs1415381391 COSM919273 |
1531 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs2083783124 | 1534 | A>P | No | TOPMed | |
| rs778136040 | 1536 | P>L | No |
ExAC gnomAD |
|
| rs1366459890 | 1539 | S>P | No | gnomAD | |
| rs573936153 | 1540 | I>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs752978081 | 1540 | I>V | No |
ExAC gnomAD |
|
| rs1589644258 | 1541 | W>L | No | Ensembl | |
| rs1475768793 | 1541 | W>R | No | TOPMed | |
| rs1357002362 | 1542 | S>A | No | gnomAD | |
| rs1169907646 | 1544 | S>A | No | TOPMed | |
|
COSM465812 rs754585055 |
1544 | S>L | kidney Variant assessed as Somatic; MODERATE impact. skin [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1169907646 | 1544 | S>P | No | TOPMed | |
| rs1396337383 | 1546 | P>H | No | gnomAD | |
| rs2083772741 | 1546 | P>T | No | TOPMed | |
| rs1186673006 | 1547 | S>F | No | gnomAD | |
| rs765816727 | 1549 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs2083770920 | 1549 | I>V | No | TOPMed | |
| rs375900438 | 1551 | S>C | No |
ESP ExAC TOPMed gnomAD |
|
| COSM3439316 | 1551 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083768854 | 1552 | T>A | No | TOPMed | |
| rs371584557 | 1555 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM252345 rs371584557 |
1555 | A>T | ovary [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs765064777 | 1555 | A>V | No |
ExAC gnomAD |
|
| rs776249996 | 1558 | T>A | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1563 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1013061852 | 1564 | I>L | No | TOPMed | |
| rs1013061852 | 1564 | I>V | No | TOPMed | |
| rs759776534 | 1566 | D>G | No |
ExAC gnomAD |
|
| rs1274272938 | 1567 | V>E | No | Ensembl | |
|
RCV000501882 CA5512127 RCV000909833 rs180798231 |
1567 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs773386686 | 1568 | A>V | No |
ExAC gnomAD |
|
| rs1003753635 | 1570 | P>S | No | TOPMed | |
| rs781362091 | 1571 | I>V | No |
ExAC TOPMed gnomAD |
|
|
COSM1702514 rs201134561 |
1573 | S>F | skin [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs3097109 | 1574 | F>L | No | Ensembl | |
| rs758097288 | 1575 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs994010406 | 1577 | M>I | No | Ensembl | |
| TCGA novel | 1577 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs201650334 | 1577 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs896865622 | 1579 | S>L | No |
TOPMed gnomAD |
|
| rs1421889652 | 1579 | S>P | No | gnomAD | |
| rs1486767966 | 1580 | P>L | No | gnomAD | |
| COSM4014944 | 1581 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1340720091 | 1583 | T>S | No | gnomAD | |
| rs368425590 | 1583 | T>S | No |
ESP ExAC gnomAD |
|
| rs2083745279 | 1585 | V>L | No | gnomAD | |
| rs2083745279 | 1585 | V>M | No | gnomAD | |
| rs145253284 | 1589 | P>L | No |
1000Genomes gnomAD |
|
| rs2083743851 | 1589 | P>S | No | Ensembl | |
| rs760544526 | 1590 | Y>C | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 1590 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1162395325 | 1592 | I>M | No | TOPMed | |
| rs775481138 | 1592 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs867837830 | 1593 | Q>* | No | Ensembl | |
| rs1356905479 | 1594 | V>A | No | gnomAD | |
| rs1273354069 | 1595 | S>C | No | TOPMed | |
| rs1273354069 | 1595 | S>F | No | TOPMed | |
| rs763303135 | 1596 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs763303135 | 1596 | S>F | No |
ExAC TOPMed gnomAD |
|
| rs773122144 | 1598 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs773122144 | 1598 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs2083732273 | 1601 | R>G | No | Ensembl | |
| rs1299857517 | 1601 | R>T | No | gnomAD | |
| rs1564833829 | 1602 | A>T | No | gnomAD | |
| rs1456323835 | 1603 | P>S | No | gnomAD | |
| rs769939352 | 1605 | V>L | No |
ExAC gnomAD |
|
|
COSM4014943 rs1415082553 |
1606 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
| COSM5370906 | 1607 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1409975144 | 1608 | A>P | No |
TOPMed gnomAD |
|
| TCGA novel | 1608 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs148024054 RCV000499376 RCV001857071 CA5512104 |
1609 | T>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs148024054 | 1609 | T>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1352049251 | 1610 | P>T | No | TOPMed | |
| rs780438249 | 1611 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs747354173 | 1611 | L>S | No |
ExAC TOPMed |
|
| rs1208643681 | 1611 | L>V | No |
TOPMed gnomAD |
|
| rs2083720552 | 1612 | K>Q | No |
TOPMed gnomAD |
|
| rs2083719155 | 1615 | A>P | No | TOPMed | |
| rs779374906 | 1618 | S>C | No | gnomAD | |
| rs778232100 | 1619 | T>K | No |
ExAC TOPMed gnomAD |
|
|
COSM215428 rs778232100 |
1619 | T>M | Variant assessed as Somatic; MODERATE impact. central_nervous_system endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs374512633 | 1619 | T>P | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV001938978 rs753360050 COSM3867519 |
1621 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| COSM3867518 | 1623 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs143606308 RCV002015799 |
1623 | R>L | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs143606308 RCV002211149 |
1623 | R>Q | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs199792393 | 1624 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs199792393 | 1624 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs199792393 | 1624 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs866112835 | 1626 | P>S | No |
TOPMed gnomAD |
|
| rs2083709171 | 1627 | V>M | No | gnomAD | |
| rs1364092696 | 1629 | T>I | No | TOPMed | |
|
RCV001999115 rs141587421 |
1630 | A>V | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1564832438 | 1633 | L>V | No | Ensembl | |
| rs765162529 | 1635 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1470631062 | 1635 | E>Q | No | gnomAD | |
|
COSM139833 rs1433150702 |
1637 | S>L | skin [Cosmic] | No |
cosmic curated gnomAD |
| rs2083701359 | 1641 | M>V | No | TOPMed | |
| rs769122589 | 1642 | T>A | No |
ExAC gnomAD |
|
| rs769122589 | 1642 | T>S | No |
ExAC gnomAD |
|
| rs2083699086 | 1643 | P>L | No | TOPMed | |
| rs1434764338 | 1644 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| COSM4613222 | 1644 | P>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs138640280 RCV000916072 |
1645 | A>T | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| COSM224369 | 1649 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083692190 | 1650 | N>D | No | Ensembl | |
| rs1564831669 | 1651 | I>M | No | Ensembl | |
| rs2083690890 | 1651 | I>V | No | Ensembl | |
| rs968627496 | 1653 | M>I | No |
TOPMed gnomAD |
|
| rs770550243 | 1657 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs770550243 | 1657 | S>R | No |
ExAC TOPMed gnomAD |
|
| rs1336718164 | 1658 | L>F | No |
TOPMed gnomAD |
|
| rs777463502 | 1659 | P>S | No |
ExAC gnomAD |
|
| rs1362845813 | 1660 | F>L | No |
TOPMed gnomAD |
|
| rs1362845813 | 1660 | F>V | No |
TOPMed gnomAD |
|
| TCGA novel | 1662 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs527940682 | 1663 | I>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1663 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs527940682 | 1663 | I>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs752701312 | 1664 | I>T | No | ExAC | |
| rs754807219 | 1667 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs754807219 | 1667 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs751376308 | 1668 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs145794254 | 1669 | P>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs145794254 | 1669 | P>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs765482326 | 1669 | P>S | No |
ExAC gnomAD |
|
| TCGA novel | 1670 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753876494 | 1672 | S>F | No |
ExAC gnomAD |
|
| rs960055647 | 1672 | S>P | No | TOPMed | |
| TCGA novel | 1673 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1674 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2083675695 | 1677 | S>L | No | Ensembl | |
| rs761113590 | 1678 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs761113590 | 1678 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs2083674176 | 1679 | V>L | No | TOPMed | |
| rs1447251850 | 1682 | V>D | No | gnomAD | |
| rs1198345668 | 1683 | K>I | No | gnomAD | |
| rs3097111 | 1685 | A>G | No | Ensembl | |
| rs775984737 | 1687 | D>N | No |
ExAC gnomAD |
|
| rs775984737 | 1687 | D>Y | No |
ExAC gnomAD |
|
| rs1236475674 | 1688 | V>I | No | gnomAD | |
| COSM2148661 | 1690 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083665033 | 1692 | A>G | No | TOPMed | |
| rs759934758 | 1692 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs774624088 | 1693 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs2131985153 | 1694 | I>V | No | Ensembl | |
| COSM1348445 | 1695 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083663058 | 1696 | M>K | No |
TOPMed gnomAD |
|
| rs770583604 | 1696 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs138602108 | 1697 | A>P | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 1697 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2083661765 | 1697 | A>V | No | Ensembl | |
| rs2083660361 | 1699 | S>Y | No |
TOPMed gnomAD |
|
| rs2083659735 | 1700 | L>F | No | Ensembl | |
| rs769441023 | 1703 | P>H | No |
ExAC gnomAD |
|
| rs1376203084 | 1704 | V>A | No | gnomAD | |
| rs2083657136 | 1705 | K>R | No | TOPMed | |
| rs202183196 | 1707 | M>I | No | TOPMed | |
| rs1175534574 | 1707 | M>T | No |
TOPMed gnomAD |
|
| rs201323956 | 1708 | P>L | No |
1000Genomes ExAC gnomAD |
|
| rs781269013 | 1709 | G>A | No |
ExAC gnomAD |
|
| rs781269013 | 1709 | G>V | No |
ExAC gnomAD |
|
| rs754927734 | 1710 | H>D | No |
ExAC TOPMed gnomAD |
|
| rs754927734 | 1710 | H>N | No |
ExAC TOPMed gnomAD |
|
| rs75365032 | 1710 | H>P | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs754927734 | 1710 | H>Y | No |
ExAC TOPMed gnomAD |
|
| rs779746353 | 1712 | E>D | No | ExAC | |
| rs1236051195 | 1712 | E>V | No |
TOPMed gnomAD |
|
|
rs544357242 CA5512054 RCV000489531 |
1713 | V>I | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs544357242 | 1713 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1229322657 | 1716 | V>G | No | gnomAD | |
| rs995070717 | 1716 | V>I | No |
TOPMed gnomAD |
|
| rs764097815 | 1717 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs764097815 | 1717 | N>H | No |
ExAC TOPMed gnomAD |
|
|
rs756186424 RCV002542530 RCV001817386 |
1717 | N>S | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs764097815 | 1717 | N>Y | No |
ExAC TOPMed gnomAD |
|
| rs2083645311 | 1719 | S>F | No | TOPMed | |
|
rs1039438110 RCV001982013 |
1719 | S>P | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs2083645311 | 1719 | S>Y | No | TOPMed | |
| rs1564829169 | 1720 | I>L | No | Ensembl | |
| rs1564829169 | 1720 | I>V | No | Ensembl | |
| COSM3867517 | 1721 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1272270406 | 1721 | S>P | No | gnomAD | |
| rs752834101 | 1722 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs752834101 | 1722 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1341296529 | 1723 | L>P | No | gnomAD | |
| rs1007867794 | 1725 | Y>* | No |
TOPMed gnomAD |
|
| rs3097112 | 1726 | P>A | No | Ensembl | |
|
rs1232915389 COSM3439312 |
1726 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1356259933 | 1728 | S>P | No | gnomAD | |
| rs2083634646 | 1729 | S>T | No | TOPMed | |
| rs1170756865 | 1730 | T>S | No | TOPMed | |
| rs2131984802 | 1731 | L>S | No | Ensembl | |
| rs1353989454 | 1734 | G>E | No |
TOPMed gnomAD |
|
|
RCV002003718 rs1353989454 |
1734 | G>V | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs79017174 | 1735 | C>* | No | Ensembl | |
| TCGA novel | 1737 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs146945986 | 1737 | A>P | No | ESP | |
|
RCV001967566 rs766671422 |
1737 | A>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1049503720 | 1740 | T>K | No |
TOPMed gnomAD |
|
|
rs1049503720 RCV001883317 |
1740 | T>M | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1295782406 | 1741 | L>V | No | Ensembl | |
| rs557205037 | 1742 | Q>H | No |
ExAC gnomAD |
|
| rs1365636571 | 1742 | Q>P | No |
TOPMed gnomAD |
|
| COSM3867516 | 1743 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs199675136 | 1745 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes NCI-TCGA |
|
rs754173928 COSM1702513 |
1746 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
COSM4498597 rs754173928 |
1746 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1747 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1564828027 | 1748 | A>D | No | Ensembl | |
| rs1564828027 | 1748 | A>G | No | Ensembl | |
| rs769637500 | 1751 | S>C | No | ExAC | |
| rs769637500 | 1751 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA |
| rs1468195870 | 1751 | S>P | No | gnomAD | |
| rs747646204 | 1752 | V>A | No |
ExAC gnomAD |
|
| rs747646204 | 1752 | V>G | No |
ExAC gnomAD |
|
| rs2083620201 | 1752 | V>M | No |
TOPMed gnomAD |
|
| rs1439433356 | 1754 | S>T | No | gnomAD | |
| TCGA novel | 1755 | V>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1271040375 | 1756 | V>L | No | gnomAD | |
| rs778163880 | 1757 | S>G | No | Ensembl | |
| rs768599771 | 1758 | A>P | No |
ExAC gnomAD |
|
| rs768599771 | 1758 | A>T | No |
ExAC gnomAD |
|
| rs2083614096 | 1759 | A>V | No | Ensembl | |
| rs2083612840 | 1760 | T>I | No | Ensembl | |
| rs934461337 | 1762 | T>I | No |
TOPMed gnomAD |
|
| rs924427610 | 1765 | K>N | No |
TOPMed gnomAD |
|
| rs779841628 | 1765 | K>T | No |
ExAC gnomAD |
|
| rs1257256384 | 1766 | V>A | No | Ensembl | |
| rs758133164 | 1766 | V>L | No |
ExAC gnomAD |
|
| rs758133164 | 1766 | V>M | No |
ExAC gnomAD |
|
| COSM3439310 | 1767 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1445006086 | 1768 | S>C | No |
TOPMed gnomAD |
|
| rs1348610187 | 1769 | T>A | No | gnomAD | |
| rs745734310 | 1769 | T>I | No |
ExAC TOPMed gnomAD |
|
|
RCV001927674 rs536556876 |
1770 | T>M | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs947295323 | 1771 | T>S | No | TOPMed | |
| rs1166732824 | 1772 | A>T | No | gnomAD | |
| rs1589632385 | 1772 | A>V | No | Ensembl | |
| rs2083601343 | 1773 | M>V | No | Ensembl | |
| rs752739777 | 1774 | P>T | No |
ExAC gnomAD |
|
| rs1186608627 | 1775 | F>S | No | TOPMed | |
|
rs138929485 COSM109587 |
1776 | S>F | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| rs866396720 | 1777 | P>L | No | Ensembl | |
| rs140551868 | 1777 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| COSM268656 | 1778 | L>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs554105276 | 1779 | R>S | No |
1000Genomes ExAC gnomAD |
|
| COSM3439309 | 1780 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs763403934 | 1782 | V>A | No |
ExAC TOPMed gnomAD |
|
|
rs2083591447 RCV001867476 |
1784 | A>E | No |
ClinVar dbSNP gnomAD |
|
| rs2083591447 | 1784 | A>V | No | gnomAD | |
| rs1213985169 | 1785 | A>V | No | gnomAD | |
| rs1316495254 | 1787 | S>L | No | gnomAD | |
| rs1225492827 | 1788 | A>D | No | gnomAD | |
| rs1285046712 | 1788 | A>T | No | gnomAD | |
| COSM6066238 | 1790 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1365552870 | 1791 | S>F | No | gnomAD | |
| rs1348666842 | 1793 | R>K | No | TOPMed | |
| rs571449073 | 1795 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs571449073 | 1795 | P>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2083583844 | 1796 | S>F | No | Ensembl | |
| rs1442285099 | 1796 | S>P | No |
TOPMed gnomAD |
|
| COSM6129738 | 1797 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs768066896 | 1797 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs746898741 | 1797 | A>V | No |
ExAC gnomAD |
|
| rs775288677 | 1798 | S>N | No |
ExAC gnomAD |
|
| rs772058136 | 1798 | S>R | No |
ExAC gnomAD |
|
| TCGA novel | 1798 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1800 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs375388674 | 1801 | Y>H | No |
ESP ExAC gnomAD |
|
| rs769960448 | 1802 | T>I | No |
ExAC gnomAD |
|
| rs769960448 | 1802 | T>K | No |
ExAC gnomAD |
|
|
COSM465810 rs748336491 |
1803 | S>P | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed |
| rs748336491 | 1803 | S>T | No |
ExAC TOPMed |
|
|
rs1057523766 RCV000444861 CA16606670 |
1803 | S>Y | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs781272219 | 1804 | L>H | No |
ExAC gnomAD |
|
| rs1173002086 | 1804 | L>V | No |
TOPMed gnomAD |
|
| COSM919270 | 1806 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083573228 | 1806 | S>A | No | Ensembl | |
|
COSM1182782 rs370919011 |
1806 | S>L | large_intestine [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs1485679403 | 1807 | S>P | No | gnomAD | |
| rs1218177654 | 1808 | I>M | No | gnomAD | |
| rs759022218 | 1809 | S>P | No |
ExAC gnomAD |
|
| COSM1474689 | 1809 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM684794 | 1810 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083568163 | 1811 | T>A | No | TOPMed | |
| rs1235688204 | 1814 | S>P | No | gnomAD | |
|
rs1350600872 RCV002045849 |
1816 | T>A | No |
ClinVar TOPMed dbSNP gnomAD |
|
| TCGA novel | 1817 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs377376965 | 1819 | I>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs377376965 | 1819 | I>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs2083562508 | 1820 | I>M | No | Ensembl | |
| rs765719436 | 1820 | I>T | No | ExAC | |
| rs1363066240 | 1821 | T>A | No | gnomAD | |
|
rs990923423 RCV001877660 |
1822 | V>A | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1183976655 | 1824 | V>A | No |
TOPMed gnomAD |
|
| rs2131983958 | 1825 | Y>H | No | Ensembl | |
|
RCV002161195 rs148806240 |
1826 | S>C | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA207211 COSM348273 RCV000193612 rs760093151 |
1827 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC dbSNP gnomAD |
| rs775117874 | 1828 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs373339085 | 1829 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1427749817 | 1830 | V>I | No |
TOPMed gnomAD |
|
| rs1427749817 | 1830 | V>L | No |
TOPMed gnomAD |
|
| rs759504906 | 1832 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs1359981020 | 1834 | P>S | No | TOPMed | |
| rs1589629222 | 1835 | A>T | No | Ensembl | |
|
COSM346268 rs774079675 |
1837 | K>N | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
| COSM919269 | 1838 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1484780647 | 1838 | K>T | No | gnomAD | |
| rs1256905542 | 1839 | L>R | No | gnomAD | |
|
rs770723563 RCV002006448 |
1840 | P>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| COSM5526610 | 1840 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs190971934 | 1841 | D>E | No | TOPMed | |
| rs1017860964 | 1843 | N>K | No |
TOPMed gnomAD |
|
| COSM919268 | 1844 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083544667 | 1844 | S>L | No | Ensembl | |
| COSM3439308 | 1845 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083543981 | 1846 | T>A | No | Ensembl | |
| rs2083543282 | 1847 | K>I | No | gnomAD | |
| TCGA novel | 1847 | K>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1007940222 | 1848 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1007940222 | 1848 | S>P | No |
TOPMed gnomAD |
|
| rs2083541115 | 1849 | A>P | No | TOPMed | |
| rs748333259 | 1849 | A>V | No |
ExAC gnomAD |
|
| rs1295854765 | 1850 | A>E | No |
TOPMed gnomAD |
|
| rs781265341 | 1850 | A>T | No | ExAC | |
| rs146629550 | 1852 | L>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs2083535662 | 1854 | S>P | No | TOPMed | |
| rs2083534358 | 1855 | P>R | No | TOPMed | |
|
rs1019505222 RCV001998847 |
1855 | P>S | No |
ClinVar TOPMed dbSNP |
|
| rs780320142 | 1856 | I>T | No |
ExAC gnomAD |
|
| rs1351368238 | 1856 | I>V | No | TOPMed | |
| rs1220102278 | 1858 | T>I | No | gnomAD | |
| rs2131983635 | 1859 | L>W | No | Ensembl | |
| rs758926942 | 1860 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs2083529803 | 1861 | T>A | No | TOPMed | |
| rs1296449865 | 1862 | E>G | No | gnomAD | |
| rs903308797 | 1863 | T>R | No | TOPMed | |
| rs754290595 | 1863 | T>S | No |
ExAC gnomAD |
|
| rs2083525643 | 1864 | H>Q | No | Ensembl | |
| rs763634827 | 1865 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1287740672 | 1869 | F>V | No | gnomAD | |
| rs2083522130 | 1870 | S>G | No | TOPMed | |
| rs1188891485 | 1870 | S>N | No | gnomAD | |
|
rs767032551 RCV001209340 |
1871 | R>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs767032551 | 1871 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs530083684 | 1872 | T>S | No |
TOPMed gnomAD |
|
|
rs2083519061 COSM3439305 |
1873 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs2083517808 | 1876 | V>I | No | Ensembl | |
| rs2083516547 | 1879 | S>P | No |
TOPMed gnomAD |
|
| rs2083515292 | 1880 | L>S | No | TOPMed | |
| TCGA novel | 1880 | L>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1253452400 | 1881 | F>L | No |
TOPMed gnomAD |
|
| rs551643246 | 1882 | L>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs551643246 | 1882 | L>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs773106343 | 1883 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2083512409 | 1883 | A>P | No | TOPMed | |
|
RCV001917531 rs773106343 |
1883 | A>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs533377631 CA5511980 RCV000489067 |
1884 | P>T | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
| rs1233520481 | 1885 | S>A | No | gnomAD | |
| rs1174191061 | 1885 | S>C | No |
TOPMed gnomAD |
|
|
TCGA novel RCV001968189 rs2131983391 |
1886 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar NCI-TCGA Ensembl dbSNP |
| COSM3439304 | 1887 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA208978 RCV000194664 rs797045235 |
1889 | L>F | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs369063284 | 1891 | T>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs772282720 | 1891 | T>I | No |
ExAC gnomAD |
|
| rs1459725903 | 1893 | S>P | No | gnomAD | |
|
COSM3439303 rs2083502461 |
1897 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| COSM4893143 | 1897 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs369695175 | 1898 | S>G | No | Ensembl | |
| rs749588267 | 1899 | Q>K | No |
ExAC gnomAD |
|
| rs866519056 | 1900 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs2083499421 | 1901 | I>V | No |
TOPMed gnomAD |
|
| rs752355784 | 1906 | A>S | No |
ExAC gnomAD |
|
| rs1217164084 | 1907 | E>D | No |
TOPMed gnomAD |
|
| COSM3439302 | 1908 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083494620 | 1910 | E>Q | No | Ensembl | |
| rs754476453 | 1911 | D>A | No |
ExAC gnomAD |
|
| rs776517169 | 1913 | M>T | No | Ensembl | |
| rs374912651 | 1914 | R>Q | No |
ESP ExAC TOPMed gnomAD |
|
| rs1274185754 | 1914 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| TCGA novel | 1915 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762988253 RCV002000779 |
1917 | A>T | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2083488061 | 1918 | I>M | No | TOPMed | |
| rs765093969 | 1918 | I>V | No |
ExAC TOPMed gnomAD |
|
|
RCV001817535 rs544709673 |
1921 | T>R | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs745924003 | 1922 | D>G | No |
ExAC gnomAD |
|
| rs982885248 | 1922 | D>H | No | TOPMed | |
| rs1388748008 | 1923 | V>M | No | gnomAD | |
| rs2083482778 | 1924 | P>A | No | gnomAD | |
| rs1055522716 | 1924 | P>L | No |
TOPMed gnomAD |
|
| rs771306574 | 1926 | E>D | No |
ExAC gnomAD |
|
|
COSM3439301 rs749828001 |
1929 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
COSM427734 rs777939067 |
1930 | Q>E | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs2131982979 | 1931 | P>H | No | Ensembl | |
| rs1424754852 | 1932 | E>A | No |
TOPMed gnomAD |
|
| rs2083476864 | 1932 | E>K | No | TOPMed | |
| rs1195852728 | 1933 | L>F | No |
TOPMed gnomAD |
|
| rs1195852728 | 1933 | L>I | No |
TOPMed gnomAD |
|
| rs1195852728 | 1933 | L>V | No |
TOPMed gnomAD |
|
| rs1452999366 | 1934 | P>S | No | gnomAD | |
| rs756502133 | 1935 | K>R | No |
ExAC gnomAD |
|
| rs1397840640 | 1936 | E>D | No |
TOPMed gnomAD |
|
| rs1172558570 | 1936 | E>Q | No |
TOPMed gnomAD |
|
| rs2083473212 | 1936 | E>V | No | gnomAD | |
| rs2083472037 | 1937 | G>R | No | gnomAD | |
| rs1465089476 | 1938 | R>K | No | TOPMed | |
| rs1564820567 | 1939 | I>T | No | Ensembl | |
| rs1194405468 | 1939 | I>V | No | gnomAD | |
| rs963549742 | 1942 | E>K | No |
TOPMed gnomAD |
|
| rs748577068 | 1944 | P>A | No |
ExAC gnomAD |
|
| rs748577068 | 1944 | P>S | No |
ExAC gnomAD |
|
| rs1332358923 | 1946 | K>E | No |
TOPMed gnomAD |
|
| rs1469870136 | 1947 | I>T | No |
TOPMed gnomAD |
|
| rs1433715095 | 1953 | E>* | No | TOPMed | |
| rs2131982780 | 1955 | L>I | No | Ensembl | |
| rs181105453 | 1956 | V>G | No |
1000Genomes ExAC gnomAD |
|
| rs1273679604 | 1959 | S>G | No |
TOPMed gnomAD |
|
| rs2083461533 | 1962 | L>V | No | Ensembl | |
| rs1235076996 | 1964 | K>T | No |
TOPMed gnomAD |
|
| rs1317985319 | 1965 | D>A | No | gnomAD | |
| rs2083460177 | 1965 | D>N | No | TOPMed | |
| rs1362554860 | 1966 | V>G | No | gnomAD | |
| rs1311071829 | 1967 | C>F | No |
TOPMed gnomAD |
|
| COSM684795 | 1968 | V>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs765945152 | 1968 | V>I | No |
ExAC gnomAD |
|
| rs2083456884 | 1969 | D>G | No | Ensembl | |
| rs1396163602 | 1969 | D>H | No | gnomAD | |
| rs2083456884 | 1969 | D>V | No | Ensembl | |
| rs1396163602 | 1969 | D>Y | No | gnomAD | |
| rs2083455753 | 1971 | K>T | No | TOPMed | |
| rs2083454867 | 1973 | S>L | No | gnomAD | |
|
RCV001891278 rs139774460 |
1974 | P>A | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1316425083 | 1974 | P>L | No | TOPMed | |
| rs139774460 | 1974 | P>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM4901664 rs867458540 |
1976 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs765154700 | 1977 | P>R | No |
ExAC TOPMed gnomAD |
|
|
rs1057523290 RCV000434034 CA16605651 |
1980 | D>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs2083449563 | 1982 | G>R | No |
TOPMed gnomAD |
|
| rs767820022 | 1983 | H>D | No |
ExAC gnomAD |
|
| rs1196866388 | 1983 | H>R | No |
TOPMed gnomAD |
|
| rs2083448353 | 1984 | S>F | No | TOPMed | |
| rs1264707212 | 1988 | D>E | No |
TOPMed gnomAD |
|
| rs1485316657 | 1991 | E>D | No | gnomAD | |
| rs774528120 | 1993 | S>G | No |
ExAC TOPMed gnomAD |
|
|
rs774528120 RCV000895309 |
1993 | S>R | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
COSM193435 RCV001093305 rs141251507 |
1994 | S>L | large_intestine [Cosmic] | No |
cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| TCGA novel | 1994 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs554140078 | 1994 | S>T | No |
1000Genomes ExAC gnomAD |
|
| rs770259969 | 1996 | E>* | No |
ExAC gnomAD |
|
|
COSM221760 rs770259969 |
1996 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs1163580860 | 1997 | I>T | No |
TOPMed gnomAD |
|
| rs147209108 | 1998 | R>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs369444587 | 1998 | R>P | No |
ESP ExAC TOPMed gnomAD |
|
|
RCV001991854 rs369444587 |
1998 | R>Q | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs147209108 | 1998 | R>W | No |
ESP ExAC TOPMed gnomAD |
|
|
rs1031437052 COSM1702512 |
1999 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs2131982395 | 2002 | Q>K | No | Ensembl | |
| rs1336796064 | 2002 | Q>R | No | gnomAD | |
| rs1408696210 | 2003 | Q>E | No |
TOPMed gnomAD |
|
| rs76855192 | 2004 | A>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1168784610 | 2004 | A>T | No | gnomAD | |
|
rs76855192 RCV000901050 |
2004 | A>V | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs202232309 | 2006 | A>V | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2131982312 | 2008 | Q>H | No | Ensembl | |
| rs2131982319 | 2008 | Q>P | No | Ensembl | |
| rs757302683 | 2011 | S>P | No |
ExAC gnomAD |
|
|
RCV002012091 rs753648576 |
2013 | P>S | No |
ClinVar ExAC dbSNP gnomAD |
|
|
COSM3790864 rs764006864 |
2014 | E>D | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs867086383 | 2014 | E>K | No | Ensembl | |
| rs372166531 | 2015 | R>I | No |
ESP ExAC TOPMed gnomAD |
|
|
rs372166531 COSM3867515 |
2015 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs372166531 | 2015 | R>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1272064248 | 2016 | V>E | No | gnomAD | |
| rs77296724 | 2017 | Q>K | No |
ExAC gnomAD |
|
|
COSM3439298 rs1589620390 |
2017 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs111706825 | 2018 | V>G | No |
TOPMed gnomAD |
|
| rs1271553862 | 2019 | K>Q | No |
TOPMed gnomAD |
|
| TCGA novel | 2019 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2020 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2083428708 | 2020 | A>S | No | Ensembl | |
| COSM919267 | 2022 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs868194851 | 2022 | A>P | No | Ensembl | |
| rs868194851 | 2022 | A>T | No | Ensembl | |
| COSM138765 | 2024 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA207521 RCV000193792 RCV003105819 rs368843645 |
2025 | E>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| COSM3439297 | 2027 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083424234 | 2029 | N>K | No | Ensembl | |
| rs1329996143 | 2032 | K>E | No | gnomAD | |
| rs747440394 | 2032 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs565209224 | 2034 | I>T | No | Ensembl | |
| rs779743785 | 2035 | D>G | No |
ExAC gnomAD |
|
| rs1413896003 | 2036 | Y>C | No |
TOPMed gnomAD |
|
| COSM6129739 | 2036 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs555434342 | 2036 | Y>H | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1471803870 | 2038 | T>A | No | TOPMed | |
|
rs1183056596 RCV001905032 |
2038 | T>I | No |
ClinVar dbSNP gnomAD |
|
| rs1468557038 | 2039 | N>K | No | gnomAD | |
| COSM919266 | 2040 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3736719 | 2040 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs797045236 | 2041 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
|
CA209257 RCV000194825 rs797045236 |
2041 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
| rs2131981990 | 2042 | G>A | No | Ensembl | |
| rs148860980 | 2043 | S>N | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2083412492 | 2047 | T>A | No | Ensembl | |
| rs375999712 | 2047 | T>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs375999712 | 2047 | T>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs375999712 | 2047 | T>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs143597081 | 2048 | N>D | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2083409506 | 2051 | Y>C | No | TOPMed | |
| rs1280684128 | 2052 | K>M | No | gnomAD | |
| rs1342619693 | 2055 | D>V | No | TOPMed | |
| rs2083406078 | 2057 | K>E | No |
TOPMed gnomAD |
|
|
COSM1348439 rs755965150 |
2058 | K>T | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
cosmic curated ExAC NCI-TCGA gnomAD |
| rs2083404754 | 2059 | D>N | No |
TOPMed gnomAD |
|
| rs2083404754 | 2059 | D>Y | No |
TOPMed gnomAD |
|
| COSM3439296 | 2062 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs954978424 | 2063 | R>G | No | TOPMed | |
| rs2083402762 | 2063 | R>K | No | Ensembl | |
| rs766598247 | 2067 | V>I | No |
ExAC gnomAD |
|
| rs1589618333 | 2069 | K>N | No | Ensembl | |
| rs763122489 | 2070 | P>S | No |
ExAC gnomAD |
|
| rs1398494595 | 2071 | A>T | No | gnomAD | |
| rs2083399752 | 2072 | I>T | No |
TOPMed gnomAD |
|
| rs1406606200 | 2072 | I>V | No | gnomAD | |
| rs2083398749 | 2073 | A>V | No | Ensembl | |
| rs750474644 | 2074 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs1159245267 | 2074 | L>S | No | gnomAD | |
| rs2083396792 | 2076 | E>D | No | gnomAD | |
| rs1031001339 | 2076 | E>G | No | TOPMed | |
| rs2131981674 | 2081 | M>V | No | Ensembl | |
| rs1283900792 | 2083 | P>L | No | TOPMed | |
| rs2083395757 | 2084 | A>G | No | TOPMed | |
| rs771408326 | 2086 | M>I | No | Ensembl | |
| rs1250909871 | 2086 | M>T | No | gnomAD | |
| rs1485666555 | 2087 | R>G | No | TOPMed | |
| COSM1348438 | 2088 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083393255 | 2090 | T>N | No | TOPMed | |
| rs1211071025 | 2096 | C>Y | No | gnomAD | |
| rs2083392366 | 2098 | M>I | No | TOPMed | |
| rs765321890 | 2099 | A>T | No |
ExAC TOPMed |
|
| rs2083391363 | 2101 | S>A | No | gnomAD | |
| rs762250372 | 2102 | F>S | No |
ExAC gnomAD |
|
| rs2083390425 | 2103 | F>I | No | Ensembl | |
| TCGA novel | 2103 | F>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3439295 | 2104 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3867514 | 2104 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083389951 | 2105 | T>R | No | Ensembl | |
| rs777119093 | 2106 | D>G | No |
ExAC gnomAD |
|
| rs898469810 | 2106 | D>H | No |
TOPMed gnomAD |
|
| rs898469810 | 2106 | D>Y | No |
TOPMed gnomAD |
|
| rs749819494 | 2107 | T>I | No |
TOPMed gnomAD |
|
| rs749819494 | 2107 | T>N | No |
TOPMed gnomAD |
|
|
rs749819494 CA16606022 RCV000437069 |
2107 | T>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs764644086 | 2112 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs761079561 | 2113 | D>E | No |
ExAC gnomAD |
|
| rs1286807524 | 2114 | D>E | No |
TOPMed gnomAD |
|
| TCGA novel | 2117 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775760681 | 2117 | Q>H | No |
ExAC gnomAD |
|
| rs771717966 | 2118 | H>D | No |
ExAC gnomAD |
|
| rs771717966 | 2118 | H>Y | No |
ExAC gnomAD |
|
| rs773857006 | 2119 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs2083383168 | 2120 | Q>R | No | Ensembl | |
| rs940108627 | 2122 | K>R | No |
TOPMed gnomAD |
|
| rs770573722 | 2125 | L>* | No |
ExAC gnomAD |
|
| COSM3439293 | 2131 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2131981402 COSM4847651 |
2131 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| rs748870337 | 2133 | R>K | No |
ExAC gnomAD |
|
| rs1466281427 | 2138 | P>L | No | TOPMed | |
| rs1379152478 | 2138 | P>S | No |
TOPMed gnomAD |
|
| TCGA novel | 2140 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs747941101 | 2141 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 2142 | Q>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs758596438 | 2144 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1264037458 | 2145 | E>G | No | gnomAD | |
| rs3097113 | 2146 | S>R | No | Ensembl | |
| rs757315937 | 2147 | T>I | No |
ExAC gnomAD |
|
| rs757315937 | 2147 | T>N | No |
ExAC gnomAD |
|
| rs757315937 | 2147 | T>S | No |
ExAC gnomAD |
|
| COSM3439290 | 2149 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764555985 | 2150 | K>R | No |
ExAC gnomAD |
|
| rs775877150 | 2151 | P>L | No |
ExAC gnomAD |
|
| rs775877150 | 2151 | P>Q | No |
ExAC gnomAD |
|
| TCGA novel | 2153 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759164375 | 2154 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs1449562899 | 2156 | V>A | No | Ensembl | |
| COSM3439289 | 2157 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs77740274 RCV000880852 |
2158 | I>T | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs770761671 | 2160 | P>S | No |
ExAC gnomAD |
|
| rs769729059 | 2162 | I>F | No |
ExAC gnomAD |
|
| rs748056569 | 2162 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs769729059 | 2162 | I>V | No |
ExAC gnomAD |
|
| rs2131981188 | 2163 | T>A | No | Ensembl | |
| rs1360695495 | 2163 | T>K | No | gnomAD | |
| rs754734548 | 2165 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs754734548 | 2165 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs746880099 | 2166 | R>I | No |
ExAC gnomAD |
|
| TCGA novel | 2167 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2170 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs370711252 | 2171 | H>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs370711252 | 2171 | H>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2083359695 | 2172 | V>F | No | gnomAD | |
| rs2083358664 | 2175 | S>N | No | TOPMed | |
| rs2131981100 | 2177 | D>E | No | Ensembl | |
| rs756589994 | 2178 | P>L | No |
ExAC gnomAD |
|
| COSM3439287 | 2178 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1484488618 | 2178 | P>T | No | gnomAD | |
| rs1319007150 | 2180 | A>G | No | gnomAD | |
| rs1204201835 | 2180 | A>T | No |
TOPMed gnomAD |
|
| rs368258557 | 2181 | G>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs375182759 | 2182 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs375182759 | 2182 | D>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs745956098 | 2183 | V>A | No | Ensembl | |
| rs2083354151 | 2183 | V>I | No | TOPMed | |
| COSM3439286 | 2184 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1173139713 | 2184 | P>S | No | gnomAD | |
| rs762723278 | 2186 | T>I | No | ExAC | |
| rs769199320 | 2187 | Q>L | No |
ExAC gnomAD |
|
| rs769199320 | 2187 | Q>R | No |
ExAC gnomAD |
|
|
RCV002004373 COSM465809 rs190303926 |
2188 | P>Q | kidney [Cosmic] | No |
cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
| rs190303926 | 2188 | P>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1031301461 | 2188 | P>S | No | Ensembl | |
| rs1031301461 | 2188 | P>T | No | Ensembl | |
|
rs140516425 RCV001909879 |
2191 | P>A | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs377485761 | 2191 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs140516425 | 2191 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs140516425 | 2191 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs2083346133 | 2193 | S>L | No | Ensembl | |
| rs1173169854 | 2193 | S>P | No | gnomAD | |
|
rs1176168259 COSM69640 |
2194 | P>R | ovary Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| rs2083344533 | 2195 | K>I | No | TOPMed | |
| TCGA novel | 2196 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771095356 | 2196 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs771095356 | 2196 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs749528201 | 2198 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs1258584494 | 2199 | T>A | No | gnomAD | |
| COSM256303 | 2199 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1038067510 | 2200 | F>S | No | TOPMed | |
| rs2083340452 | 2201 | M>I | No | Ensembl | |
| rs1426094883 | 2201 | M>K | No | gnomAD | |
| rs2131980854 | 2202 | E>* | No | Ensembl | |
| COSM3439285 | 2202 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1177101315 | 2203 | L>S | No | gnomAD | |
| COSM3867513 | 2205 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs752876086 | 2206 | K>R | No |
ExAC gnomAD |
|
| TCGA novel | 2207 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1034356460 | 2207 | P>R | No |
TOPMed gnomAD |
|
| rs1264374450 | 2209 | T>I | No | gnomAD | |
| rs1264374450 | 2209 | T>N | No | gnomAD | |
| rs2083332954 | 2211 | S>G | No | gnomAD | |
| rs2083332418 | 2211 | S>N | No | Ensembl | |
| rs766875443 | 2215 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs762639202 | 2216 | V>F | No |
ExAC gnomAD |
|
| rs762639202 | 2216 | V>I | No |
ExAC gnomAD |
|
| rs762639202 | 2216 | V>L | No |
ExAC gnomAD |
|
| rs1564811620 | 2217 | K>Q | No | Ensembl | |
| rs750105304 | 2218 | A>V | No |
ExAC gnomAD |
|
| TCGA novel | 2219 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3439283 | 2220 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs765007870 RCV001531687 |
2221 | M>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs761206620 RCV000484243 CA5511841 |
2223 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs776244745 | 2224 | S>G | No |
ExAC gnomAD |
|
| rs1164023239 | 2224 | S>N | No | gnomAD | |
| rs768436856 | 2225 | S>C | No |
ExAC gnomAD |
|
| rs760626993 | 2225 | S>R | No |
ExAC gnomAD |
|
| rs2083325013 | 2226 | E>D | No |
TOPMed gnomAD |
|
| COSM3439282 | 2226 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs753100931 RCV001906112 |
2227 | E>missing | No |
ClinVar dbSNP |
|
| rs940139873 | 2227 | E>V | No | TOPMed | |
| rs554371575 | 2228 | D>G | No |
TOPMed gnomAD |
|
| rs775205491 | 2229 | D>E | No |
ExAC gnomAD |
|
| TCGA novel | 2230 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1474688 | 2231 | N>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs771855903 | 2231 | N>H | No |
ExAC gnomAD |
|
|
COSM318685 rs745726299 |
2231 | N>S | lung [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs373545688 | 2232 | R>W | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000424121 rs748148709 CA5511831 |
2233 | V>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2131980498 | 2234 | L>F | No | Ensembl | |
| rs935899775 | 2235 | S>N | No | Ensembl | |
| rs1293641158 | 2237 | G>S | No |
TOPMed gnomAD |
|
| rs781367135 | 2238 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs780501756 | 2239 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs780501756 | 2239 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs747533848 | 2239 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs1231864628 | 2241 | K>Q | No |
TOPMed gnomAD |
|
| rs758831313 | 2242 | E>A | No |
ExAC TOPMed gnomAD |
|
| rs1312483886 | 2242 | E>K | No | gnomAD | |
| rs764765603 | 2246 | I>L | No |
ExAC gnomAD |
|
| rs764765603 | 2246 | I>V | No |
ExAC gnomAD |
|
| TCGA novel | 2251 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2083307771 | 2252 | M>I | No | gnomAD | |
| rs1279037537 | 2252 | M>T | No |
TOPMed gnomAD |
|
| rs917000070 | 2253 | V>A | No | Ensembl | |
| rs990145098 | 2253 | V>F | No |
TOPMed gnomAD |
|
| rs1401426766 | 2254 | Y>C | No | gnomAD | |
| TCGA novel | 2255 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1477946130 | 2255 | H>R | No |
TOPMed gnomAD |
|
|
rs370076474 COSM3439281 |
2255 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP NCI-TCGA TOPMed gnomAD |
| rs760537081 | 2256 | S>F | No |
ExAC TOPMed gnomAD |
|
|
RCV001969552 rs1259099716 |
2258 | P>R | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs767496680 | 2258 | P>S | No |
ExAC TOPMed gnomAD |
|
| rs995746990 | 2259 | G>C | No |
TOPMed gnomAD |
|
| rs995746990 | 2259 | G>S | No |
TOPMed gnomAD |
|
| rs776518174 | 2260 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs192587828 | 2260 | G>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs192587828 | 2260 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1185149185 | 2261 | E>D | No | Ensembl | |
| rs768862616 | 2262 | G>D | No |
ExAC gnomAD |
|
| rs971652732 | 2262 | G>S | No | TOPMed | |
| rs768862616 | 2262 | G>V | No |
ExAC gnomAD |
|
| rs747153709 | 2263 | A>E | No |
ExAC gnomAD |
|
| COSM4014938 | 2263 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3439280 rs1277783590 |
2266 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs1400732154 | 2267 | I>T | No | gnomAD | |
| rs1167505767 | 2269 | E>A | No | gnomAD | |
| rs1589609938 | 2271 | M>I | No | TOPMed | |
|
RCV000438130 CA5511808 rs746178496 |
2271 | M>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs746178496 | 2271 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs1362536806 | 2271 | M>V | No |
TOPMed gnomAD |
|
| rs1424129933 | 2273 | V>I | No | TOPMed | |
| rs372734784 | 2274 | H>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs2083291048 | 2278 | K>Q | No | Ensembl | |
| rs753530487 | 2279 | A>G | No |
ExAC TOPMed gnomAD |
|
| rs2083290546 | 2279 | A>S | No |
TOPMed gnomAD |
|
| rs753530487 | 2279 | A>V | No |
ExAC TOPMed gnomAD |
|
| COSM3439278 | 2280 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083289380 | 2280 | F>V | No | Ensembl | |
|
RCV002211148 rs2131980067 |
2281 | Q>* | No |
ClinVar Ensembl dbSNP |
|
| rs1398310479 | 2281 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs763718442 | 2282 | S>P | No |
ExAC gnomAD |
|
| rs763718442 | 2282 | S>T | No |
ExAC gnomAD |
|
| rs868677097 | 2283 | G>R | No |
TOPMed gnomAD |
|
| rs767414907 | 2284 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs752249185 | 2284 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2131979983 | 2285 | D>G | No | Ensembl | |
| rs777474903 | 2285 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| COSM3439277 | 2285 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs766211898 | 2286 | P>S | No |
ExAC gnomAD |
|
| COSM4014937 | 2288 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083282980 | 2289 | E>K | No | gnomAD | |
| rs761875233 | 2290 | L>Q | No |
ExAC gnomAD |
|
| rs1287458750 | 2291 | A>T | No | TOPMed | |
| COSM6066239 | 2292 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1351143249 | 2293 | L>P | No | TOPMed | |
| rs775743067 | 2294 | F>L | No |
ExAC gnomAD |
|
| rs1483767778 | 2296 | H>R | No | TOPMed | |
|
CA207325631 RCV000504341 rs766586650 |
2296 | H>Y | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| rs2083278356 | 2297 | K>T | No | Ensembl | |
| rs2083277853 | 2298 | S>L | No | TOPMed | |
|
rs772657195 RCV000444755 CA5511792 |
2299 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 2302 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1400018652 | 2303 | D>H | No | gnomAD | |
| rs771319496 | 2304 | V>I | No |
ExAC gnomAD |
|
| rs1465764831 | 2305 | H>L | No |
TOPMed gnomAD |
|
| rs1465764831 | 2305 | H>R | No |
TOPMed gnomAD |
|
| rs1160907136 | 2306 | K>R | No | gnomAD | |
| rs532708912 | 2308 | A>T | No |
ExAC gnomAD |
|
| TCGA novel | 2311 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2312 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000439635 CA16605650 rs949707021 |
2313 | A>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs2083269166 | 2314 | Q>R | No | TOPMed | |
|
RCV002016029 rs375411220 |
2315 | H>Q | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1199515200 | 2315 | H>R | No | gnomAD | |
| TCGA novel | 2318 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_061013 CA5511781 RCV000434182 rs59021407 |
2318 | K>R | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV000515107 CA207628 rs140463162 RCV000193865 |
2319 | D>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2083264769 | 2321 | Q>K | No | Ensembl | |
|
COSM3439276 rs1368764702 |
2322 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA Cosmic |
|
RCV000591608 CA658797427 rs1554876382 |
2322 | M>T | No |
ClinGen ClinVar dbSNP |
|
| rs764370843 | 2322 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs1440625580 | 2323 | K>N | No | gnomAD | |
| rs760998812 | 2324 | P>A | No |
ExAC gnomAD |
|
| rs775651285 | 2324 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs775651285 | 2324 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs760998812 | 2324 | P>T | No |
ExAC gnomAD |
|
| rs1447100042 | 2325 | K>R | No | gnomAD | |
| rs1564806965 | 2326 | L>P | No | Ensembl | |
| rs1401962698 | 2327 | E>K | No | gnomAD | |
|
CA5511775 COSM919263 rs147219129 RCV000482711 |
2328 | R>C | endometrium [Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs774905406 COSM1474687 |
2328 | R>H | breast [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs2083256900 | 2329 | I>V | No | TOPMed | |
| rs1164946129 | 2330 | I>M | No | gnomAD | |
| rs2083256371 | 2330 | I>T | No | Ensembl | |
| rs955561350 | 2332 | V>D | No |
TOPMed gnomAD |
|
| rs555071601 | 2332 | V>L | No |
1000Genomes ExAC gnomAD |
|
| rs369714799 | 2334 | I>M | No |
ESP ExAC TOPMed gnomAD |
|
| rs1167736742 | 2334 | I>T | No | gnomAD | |
| rs2083253202 | 2334 | I>V | No | Ensembl | |
|
COSM3439275 rs769392075 |
2335 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs1245246184 | 2336 | K>I | No |
TOPMed gnomAD |
|
|
rs1212696497 RCV001870493 |
2336 | K>N | No |
ClinVar TOPMed dbSNP |
|
| rs747814527 | 2337 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs747814527 | 2337 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs1452310640 | 2338 | N>K | No |
TOPMed gnomAD |
|
| COSM4014936 | 2339 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780616049 | 2343 | T>A | No |
ExAC gnomAD |
|
| rs754509195 | 2344 | E>D | No |
ExAC gnomAD |
|
| COSM4404953 | 2346 | I>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1461316291 | 2347 | I>M | No |
TOPMed gnomAD |
|
| rs751090175 | 2347 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs2131979411 | 2349 | E>Q | No | Ensembl | |
| rs1179797691 | 2350 | T>N | No | TOPMed | |
| rs1310474088 | 2353 | H>R | No |
TOPMed gnomAD |
|
| rs2083243553 | 2353 | H>Y | No | Ensembl | |
| rs2083242351 | 2354 | P>S | No | Ensembl | |
| COSM5524585 | 2355 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM2148614 | 2357 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780019630 | 2358 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs1242828580 | 2358 | M>L | No | gnomAD | |
| rs958966819 | 2359 | Y>C | No |
TOPMed gnomAD |
|
| rs958966819 | 2359 | Y>S | No |
TOPMed gnomAD |
|
| rs758308584 | 2361 | Y>S | No |
ExAC gnomAD |
|
| rs1460213309 | 2364 | D>G | No | gnomAD | |
|
rs765137118 COSM3439274 |
2366 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs750194817 | 2366 | S>P | No |
ExAC TOPMed gnomAD |
|
| rs750194817 | 2366 | S>T | No |
ExAC TOPMed gnomAD |
|
|
rs775210756 COSM919260 |
2367 | R>Q | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs760912208 | 2367 | R>W | No |
ExAC TOPMed gnomAD |
|
| COSM3439273 | 2368 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2083235897 TCGA novel |
2368 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs759636712 | 2369 | D>N | No |
ExAC TOPMed gnomAD |
|
|
RCV000437937 rs759636712 CA5511759 |
2369 | D>Y | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2083234506 | 2370 | I>T | No | TOPMed | |
| rs1441381212 | 2372 | L>P | No | gnomAD | |
| rs372831440 | 2372 | L>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1475515532 | 2374 | D>H | No |
TOPMed gnomAD |
|
| rs1475515532 | 2374 | D>Y | No |
TOPMed gnomAD |
|
| rs201931139 | 2375 | F>V | No |
ExAC TOPMed gnomAD |
|
| rs2083230933 | 2376 | L>V | No | Ensembl | |
| rs752557923 | 2377 | P>L | No | gnomAD | |
| rs2083229726 | 2379 | K>E | No | TOPMed | |
| COSM919259 | 2379 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs763396509 | 2380 | H>P | No |
ExAC TOPMed gnomAD |
|
| rs2131979225 | 2380 | H>Y | No | Ensembl | |
| rs367600332 | 2381 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs367600332 | 2381 | D>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs1487990394 | 2382 | A>G | No |
TOPMed gnomAD |
|
| rs748581447 | 2382 | A>T | No |
ExAC gnomAD |
|
|
COSM1182773 rs1487990394 |
2382 | A>V | large_intestine [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs376609372 | 2383 | F>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs768244472 | 2384 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs1260583575 | 2385 | C>F | No | gnomAD | |
| rs1278280590 | 2387 | E>K | No | gnomAD | |
|
rs1436520370 COSM3867512 |
2388 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs758298759 | 2390 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs779461792 | 2390 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs779461792 | 2390 | G>S | No |
ExAC TOPMed gnomAD |
|
| rs758298759 | 2390 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs745803467 | 2391 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs1397641902 | 2393 | E>Q | No | gnomAD | |
| rs759164511 | 2395 | E>D | No | Ensembl | |
| rs1298792417 | 2401 | E>K | No |
TOPMed gnomAD |
|
| rs1298792417 | 2401 | E>Q | No |
TOPMed gnomAD |
|
| COSM684797 | 2401 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs757102244 | 2402 | S>L | No |
ExAC gnomAD |
|
| rs962578954 | 2404 | P>A | No |
TOPMed gnomAD |
|
| rs767744691 | 2405 | S>C | No |
ExAC TOPMed gnomAD |
|
|
RCV000116339 CA248692 RCV000888286 rs148904927 |
2409 | S>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs751613435 | 2410 | S>P | No |
ExAC gnomAD |
|
| rs2083209525 | 2411 | R>G | No | Ensembl | |
| rs1477575061 | 2414 | T>P | No | gnomAD | |
| rs372041619 | 2415 | P>H | No | TOPMed | |
| rs372041619 | 2415 | P>L | No | TOPMed | |
|
RCV001804197 rs1196476571 |
2415 | P>S | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1196476571 | 2415 | P>T | No |
TOPMed gnomAD |
|
| rs754479636 | 2416 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs1055450181 | 2418 | Q>P | No |
TOPMed gnomAD |
|
| rs1402770380 | 2419 | E>V | No |
TOPMed gnomAD |
|
| rs765792452 | 2421 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1227835107 | 2422 | S>N | No |
TOPMed gnomAD |
|
|
rs762146145 COSM1675265 |
2423 | R>C | large_intestine [Cosmic] | No |
cosmic curated ExAC gnomAD |
| rs182233306 | 2423 | R>H | No |
1000Genomes TOPMed gnomAD |
|
| rs2083198202 | 2425 | S>G | No | TOPMed | |
| rs777021007 | 2425 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs777021007 | 2425 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs535775688 | 2430 | I>L | No |
TOPMed gnomAD |
|
| rs1383880539 | 2430 | I>M | No | gnomAD | |
| rs768315609 | 2430 | I>R | No |
ExAC gnomAD |
|
| rs535775688 | 2430 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1439284166 | 2431 | S>A | No | gnomAD | |
| rs1439284166 | 2431 | S>T | No | gnomAD | |
| TCGA novel | 2431 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2083193690 | 2432 | D>Y | No | Ensembl | |
| rs774997597 | 2433 | D>N | No |
ExAC gnomAD |
|
| COSM3985673 | 2433 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083191794 | 2434 | S>F | No |
TOPMed gnomAD |
|
| TCGA novel | 2434 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2083191201 | 2435 | Y>C | No | Ensembl | |
| rs569496538 | 2437 | T>A | No | 1000Genomes | |
| rs2083189360 | 2437 | T>I | No | TOPMed | |
| COSM116641 | 2438 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083187412 | 2439 | K>T | No | Ensembl | |
| COSM919257 | 2440 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1168811649 | 2441 | L>F | No | gnomAD | |
| rs998329575 | 2442 | S>G | No | TOPMed | |
| rs1214485435 | 2442 | S>I | No |
TOPMed gnomAD |
|
| rs1214485435 | 2442 | S>N | No |
TOPMed gnomAD |
|
| rs998329575 | 2442 | S>R | No | TOPMed | |
| rs757298299 | 2446 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs778968918 | 2446 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs973099898 | 2447 | E>Q | No | Ensembl | |
| rs371860084 | 2449 | H>R | No |
ESP ExAC TOPMed gnomAD |
|
| COSM6066240 | 2450 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs149194409 | 2451 | D>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs143060947 | 2451 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs2083177164 | 2452 | E>G | No |
TOPMed gnomAD |
|
|
COSM3790863 rs1163747953 |
2452 | E>Q | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
CA209945 RCV000195259 rs797045237 |
2455 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM4394740 | 2458 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 2459 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs201163600 | 2461 | Y>C | No |
1000Genomes ExAC gnomAD |
|
| rs138376140 | 2462 | R>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs771896357 | 2464 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs771896357 | 2464 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs2083170417 | 2465 | E>K | No | Ensembl | |
| TCGA novel | 2468 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759083423 | 2469 | L>R | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 2470 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs866517074 | 2475 | V>M | No | gnomAD | |
| rs374105867 | 2476 | S>F | No |
ESP ExAC TOPMed gnomAD |
|
| rs867914623 | 2478 | S>F | No | Ensembl | |
| rs981496315 | 2479 | D>V | No | Ensembl | |
| TCGA novel | 2481 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2083157081 | 2482 | E>D | No | TOPMed | |
|
rs865775713 COSM3867511 |
2482 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs147863456 | 2483 | S>L | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs748036931 | 2484 | V>I | No |
ExAC gnomAD |
|
| rs1166133140 | 2485 | T>I | No | gnomAD | |
| rs780117428 | 2486 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs758661009 | 2488 | A>G | No |
ExAC gnomAD |
|
|
COSM4403695 rs1178363583 |
2489 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs140741466 | 2490 | P>H | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2083146941 | 2491 | P>S | No | TOPMed | |
| rs2083146941 | 2491 | P>T | No | TOPMed | |
| rs778987750 | 2492 | S>G | No |
ExAC TOPMed gnomAD |
|
|
rs868483729 COSM213381 |
2492 | S>N | breast [Cosmic] | No |
cosmic curated Ensembl |
| rs757694242 | 2492 | S>R | No |
ExAC gnomAD |
|
| rs1264280865 | 2494 | E>A | No | gnomAD | |
| rs572504855 | 2494 | E>K | No | Ensembl | |
| rs903056570 | 2495 | L>F | No | Ensembl | |
| rs764717812 | 2495 | L>I | No |
ExAC gnomAD |
|
| rs1361443415 | 2495 | L>S | No |
TOPMed gnomAD |
|
|
rs368439840 RCV000761721 |
2496 | Q>P | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1589599533 | 2498 | S>A | No | Ensembl | |
| rs1377353560 | 2499 | D>A | No | gnomAD | |
| rs767237165 | 2500 | K>E | No |
ExAC gnomAD |
|
| rs2083136598 | 2500 | K>M | No | TOPMed | |
| rs773937543 | 2501 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs762595530 | 2502 | S>A | No | ExAC | |
| rs773013509 | 2505 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs769822914 | 2506 | I>R | No |
ExAC TOPMed gnomAD |
|
|
rs769822914 RCV000193947 CA207775 RCV002517041 |
2506 | I>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1421195086 | 2506 | I>V | No |
TOPMed gnomAD |
|
| rs1305675736 | 2508 | T>I | No |
TOPMed gnomAD |
|
| rs747865981 | 2509 | A>V | No |
ExAC gnomAD |
|
| rs1400517214 | 2510 | P>A | No | TOPMed | |
| rs1335209889 | 2510 | P>H | No |
TOPMed gnomAD |
|
| rs1382544046 | 2511 | K>E | No | gnomAD | |
| rs2083125827 | 2511 | K>I | No | Ensembl | |
| rs1382544046 | 2511 | K>Q | No | gnomAD | |
|
RCV001995552 rs2083125827 |
2511 | K>R | No |
ClinVar Ensembl dbSNP |
|
| rs895713634 | 2512 | K>* | No |
TOPMed gnomAD |
|
| rs2083124615 | 2512 | K>N | No | Ensembl | |
| rs895713634 | 2512 | K>Q | No |
TOPMed gnomAD |
|
| COSM3439272 | 2513 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083124085 | 2513 | E>Q | No | Ensembl | |
| rs772233864 | 2514 | I>L | No |
ExAC TOPMed gnomAD |
|
| rs772233864 | 2514 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs1266079762 | 2515 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
rs1266079762 COSM2148600 |
2515 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| COSM3807413 | 2516 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1425421681 | 2516 | S>F | No | Ensembl | |
| rs1377709589 | 2518 | I>N | No |
TOPMed gnomAD |
|
| rs1283875658 | 2521 | D>E | No | gnomAD | |
| rs370989295 | 2521 | D>G | No |
ExAC gnomAD |
|
| TCGA novel | 2521 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs370989295 | 2521 | D>V | No |
ExAC gnomAD |
|
| rs1589598063 | 2522 | V>A | No | Ensembl | |
| rs1215789404 | 2524 | E>K | No | gnomAD | |
| rs937038597 | 2526 | G>D | No | gnomAD | |
| rs1354160576 | 2526 | G>S | No | gnomAD | |
| TCGA novel | 2527 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1231381254 | 2527 | V>I | No | gnomAD | |
| rs1264766812 | 2528 | G>C | No |
TOPMed gnomAD |
|
| rs1264766812 | 2528 | G>S | No |
TOPMed gnomAD |
|
| rs1302220873 | 2528 | G>V | No | gnomAD | |
| rs1459971830 | 2529 | K>E | No |
TOPMed gnomAD |
|
| rs753998251 | 2530 | V>L | No |
ExAC gnomAD |
|
| rs753998251 | 2530 | V>M | No |
ExAC gnomAD |
|
| rs1338515607 | 2532 | K>N | No | gnomAD | |
| rs751172576 | 2535 | H>L | No |
ExAC gnomAD |
|
| rs751172576 | 2535 | H>R | No |
ExAC gnomAD |
|
| rs1420780896 | 2535 | H>Y | No |
TOPMed gnomAD |
|
| rs2083105149 | 2536 | F>L | No | TOPMed | |
| rs2083104007 | 2537 | D>G | No | Ensembl | |
| rs1171134324 | 2537 | D>H | No |
TOPMed gnomAD |
|
|
rs1444899871 CA377009993 RCV000500787 |
2538 | K>Q | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
COSM4918915 rs756672652 |
2540 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC TOPMed gnomAD |
| rs756672652 | 2540 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs2083101553 | 2544 | Y>* | No | Ensembl | |
| rs2083101013 | 2545 | S>C | No | gnomAD | |
| rs752951323 | 2546 | G>A | No |
ExAC gnomAD |
|
| rs1037418191 | 2546 | G>S | No | Ensembl | |
| rs768004286 | 2547 | N>H | No |
ExAC gnomAD |
|
| rs759201055 | 2548 | V>I | No |
ExAC gnomAD |
|
| rs766194973 | 2549 | S>I | No |
ExAC TOPMed gnomAD |
|
| rs766194973 | 2549 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs766194973 | 2549 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs982958119 | 2557 | M>L | No | gnomAD | |
| rs761833443 | 2558 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs761833443 | 2558 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs2083091644 | 2560 | T>A | No | TOPMed | |
| rs1401609177 | 2562 | D>E | No | TOPMed | |
| rs776353978 | 2562 | D>N | No |
ExAC gnomAD |
|
| rs1316160340 | 2567 | G>D | No |
TOPMed gnomAD |
|
| rs2083087147 | 2568 | R>G | No | gnomAD | |
| rs2083085556 | 2569 | E>G | No | TOPMed | |
| rs2083086264 | 2569 | E>Q | No | TOPMed | |
| rs1401167662 | 2570 | K>Q | No | gnomAD | |
| rs1332735079 | 2571 | L>S | No | gnomAD | |
|
CA151804 RCV000116341 rs61732398 RCV000965137 |
2572 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2083082252 | 2573 | Y>C | No |
TOPMed gnomAD |
|
| rs1176719945 | 2575 | D>G | No | gnomAD | |
| TCGA novel | 2576 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1420884936 | 2577 | V>L | No | gnomAD | |
| rs1420884936 | 2577 | V>M | No | gnomAD | |
| rs1412239908 | 2578 | D>G | No |
TOPMed gnomAD |
|
| rs1169286652 | 2578 | D>N | No |
TOPMed gnomAD |
|
|
RCV001325198 rs61732397 RCV000238595 CA5511672 |
2579 | R>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs61732397 | 2579 | R>T | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 2580 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771223415 | 2581 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs771223415 | 2581 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs2131977404 | 2582 | K>R | No | Ensembl | |
| rs2083075801 | 2583 | E>K | No | gnomAD | |
| rs2131977378 | 2585 | E>K | No | Ensembl | |
| COSM3867510 | 2586 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4144773 rs1185327906 |
2587 | K>I | thyroid [Cosmic] | No |
cosmic curated gnomAD |
| rs1441690472 | 2588 | L>R | No | gnomAD | |
| rs562676999 | 2589 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs562676999 RCV001999490 |
2589 | T>S | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| COSM3439271 | 2590 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs370340674 | 2593 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs1257637260 | 2594 | F>V | No | gnomAD | |
| TCGA novel | 2595 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1182781 rs2083071798 |
2596 | R>C | Variant assessed as Somatic; MODERATE impact. large_intestine breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
|
rs781782384 RCV001928321 |
2596 | R>H | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2083070760 | 2597 | D>E | No | Ensembl | |
| rs1341555404 | 2598 | K>E | No | gnomAD | |
| rs1283000230 | 2599 | T>A | No | gnomAD | |
| rs755384120 | 2601 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs766102034 | 2602 | L>Q | No |
ExAC gnomAD |
|
| COSM919253 | 2602 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083066841 | 2603 | N>H | No | TOPMed | |
| rs2083066290 | 2603 | N>S | No | TOPMed | |
| COSM5594179 | 2604 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2083065717 | 2605 | E>K | No | TOPMed | |
| rs764819212 | 2608 | S>T | No |
ExAC gnomAD |
|
| rs2083063342 | 2609 | P>L | No | TOPMed | |
| rs2083063342 | 2609 | P>Q | No | TOPMed | |
| rs761590730 | 2610 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1201104329 | 2610 | E>K | No | TOPMed | |
| rs776535847 | 2612 | K>R | No |
ExAC gnomAD |
|
| COSM1348435 | 2612 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs748542017 | 2613 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs748542017 | 2613 | A>S | No |
ExAC TOPMed gnomAD |
|
| rs748542017 | 2613 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs775291754 | 2614 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000934588 rs144638470 |
2614 | R>H | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2083055890 | 2615 | P>L | No | TOPMed | |
| rs372959896 | 2615 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs1439642182 | 2616 | K>R | No | gnomAD | |
|
RCV001870252 rs2131977038 |
2617 | N>I | No |
ClinVar Ensembl dbSNP |
|
| rs769916912 | 2618 | G>V | No |
ExAC gnomAD |
|
| rs748298419 | 2621 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs781760066 | 2623 | S>Y | No |
ExAC gnomAD |
|
| rs1311677533 | 2625 | S>I | No |
TOPMed gnomAD |
|
| rs1311677533 | 2625 | S>N | No |
TOPMed gnomAD |
|
| rs966363148 | 2626 | P>H | No | TOPMed | |
| rs1589593107 | 2627 | T>A | No | Ensembl | |
| rs2083047494 | 2627 | T>S | No | Ensembl | |
| rs369692292 | 2628 | S>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs1034280501 | 2628 | S>N | No | Ensembl | |
| rs1442412621 | 2628 | S>R | No | gnomAD | |
| TCGA novel | 2631 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2083044274 | 2631 | P>T | No | gnomAD | |
| rs1001819883 | 2633 | K>R | No | TOPMed | |
| rs780490579 | 2634 | V>L | No |
ExAC gnomAD |
|
| rs1589592519 | 2637 | T>I | No | Ensembl | |
| rs1366156989 | 2638 | E>G | No | gnomAD | |
| rs750097260 | 2639 | L>M | No |
ExAC TOPMed gnomAD |
|
| COSM4849819 | 2641 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA16605648 rs1057521794 RCV000440912 |
2642 | S>C | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs1490526453 | 2644 | D>G | No | gnomAD | |
| rs756767147 | 2644 | D>N | No |
ExAC gnomAD |
|
|
rs376931030 CA5511641 RCV002527190 RCV000504298 |
2647 | V>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2083033783 | 2647 | V>L | No | TOPMed | |
| rs2083032660 | 2648 | K>E | No | TOPMed | |
| rs2083032101 | 2648 | K>T | No | gnomAD | |
| rs1353456179 | 2649 | A>T | No | gnomAD | |
| rs1285312029 | 2649 | A>V | No | gnomAD | |
| rs2083029348 | 2651 | Q>E | No | Ensembl | |
| rs1033589455 | 2652 | H>Y | No |
TOPMed gnomAD |
|
| rs1272684233 | 2653 | G>D | No | gnomAD | |
| COSM3439268 | 2653 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1001751889 | 2654 | P>R | No | TOPMed | |
| rs2083027078 | 2654 | P>S | No | gnomAD | |
| rs2083025451 | 2655 | D>G | No | gnomAD | |
|
CA16618962 rs1064796657 RCV000479081 |
2655 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM3439267 rs371772122 |
2656 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs760624949 COSM3981053 |
2656 | G>R | ovary [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs2131976556 | 2657 | Q>H | No | Ensembl | |
| rs767346326 | 2657 | Q>R | No | ExAC | |
| rs1387264748 | 2658 | G>A | No |
TOPMed gnomAD |
|
| rs1387264748 | 2658 | G>D | No |
TOPMed gnomAD |
|
| rs764318732 | 2660 | P>S | No |
ExAC gnomAD |
|
| TCGA novel | 2661 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs201362986 | 2661 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs747531821 | 2664 | E>D | No |
ExAC gnomAD |
|
| rs746265993 | 2667 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs772481850 | 2667 | P>S | No |
ExAC gnomAD |
|
| rs753295741 | 2670 | P>S | No |
ExAC gnomAD |
|
|
RCV000503129 rs1222457954 CA377008777 |
2673 | P>A | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
| COSM427732 | 2673 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1247552544 | 2673 | P>Q | No |
TOPMed gnomAD |
|
| rs1284597903 | 2674 | E>D | No |
TOPMed gnomAD |
|
| rs755976109 | 2675 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs376054723 | 2675 | K>N | No |
ESP TOPMed |
|
| rs780215123 | 2676 | M>L | No | Ensembl | |
| rs769490845 | 2676 | M>T | No | Ensembl | |
| COSM4014934 | 2677 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1564794724 | 2677 | V>I | No | Ensembl | |
| rs867999572 | 2679 | S>F | No | Ensembl | |
| rs1432722328 | 2681 | Q>K | No | gnomAD | |
| rs759354954 | 2681 | Q>L | No |
ExAC TOPMed gnomAD |
|
| rs759354954 | 2681 | Q>R | No |
ExAC TOPMed gnomAD |
|
|
RCV001726813 rs775797548 |
2683 | E>A | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1464161452 | 2684 | D>E | No |
TOPMed gnomAD |
|
| TCGA novel | 2684 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1185091198 | 2684 | D>Y | No |
TOPMed gnomAD |
|
| rs751355813 | 2685 | S>G | No |
ExAC gnomAD |
|
| rs2082997876 | 2688 | T>A | No | Ensembl | |
|
RCV002015796 rs1188787464 |
2689 | V>A | No |
ClinVar dbSNP gnomAD |
|
| rs1420932781 | 2689 | V>M | No | gnomAD | |
| rs1445693558 | 2691 | A>T | No |
TOPMed gnomAD |
|
| rs1482487852 | 2691 | A>V | No | gnomAD | |
| rs762149369 | 2692 | K>E | No |
ExAC gnomAD |
|
| rs776794640 | 2692 | K>R | No |
ExAC gnomAD |
|
|
COSM3439264 rs2082992678 |
2693 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed |
| rs149249186 | 2693 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs760905994 | 2694 | S>I | No |
ExAC TOPMed gnomAD |
|
| rs2082991599 | 2694 | S>R | No | gnomAD | |
| COSM919251 | 2695 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs910006620 | 2695 | I>T | No |
TOPMed gnomAD |
|
|
RCV001864729 rs776042210 |
2696 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1296285737 | 2698 | S>N | No | gnomAD | |
| rs772493267 | 2698 | S>R | No |
ExAC gnomAD |
|
|
RCV002049784 rs2131976054 |
2699 | K>Q | No |
ClinVar Ensembl dbSNP |
|
| rs539102163 | 2700 | A>T | No |
1000Genomes ExAC gnomAD |
|
| rs2082988131 | 2700 | A>V | No | gnomAD | |
| rs942921085 | 2701 | P>L | No | Ensembl | |
| rs779166754 | 2702 | D>H | No |
ExAC gnomAD |
|
| rs2082985787 | 2703 | G>R | No | TOPMed | |
| rs2082983598 | 2704 | P>H | No | TOPMed | |
| rs925970422 | 2704 | P>S | No | Ensembl | |
| rs1329554721 | 2705 | Q>H | No |
TOPMed gnomAD |
|
| rs1408638793 | 2705 | Q>R | No | gnomAD | |
| rs967346751 | 2706 | S>T | No | Ensembl | |
| rs1465218887 | 2707 | G>A | No | gnomAD | |
| rs1288013962 | 2707 | G>R | No | TOPMed | |
| rs1379813940 | 2708 | F>I | No |
TOPMed gnomAD |
|
| rs2082978579 | 2709 | Q>* | No | Ensembl | |
| rs188443496 | 2710 | L>F | No | 1000Genomes | |
|
rs1064796891 RCV000486996 CA16618961 |
2711 | K>missing | No |
ClinGen ClinVar dbSNP |
|
| rs755605436 | 2712 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs2082976138 | 2714 | K>T | No | TOPMed | |
| rs2082975494 | 2716 | S>N | No | TOPMed | |
| rs752201248 | 2716 | S>R | No | ExAC | |
| rs547173120 | 2717 | S>C | No |
1000Genomes ExAC gnomAD |
|
| rs754906731 | 2719 | R>G | No |
ExAC gnomAD |
|
|
COSM3935110 rs202192255 |
2719 | R>T | oesophagus [Cosmic] | No |
cosmic curated Ensembl |
| rs751324643 | 2721 | K>Q | No |
ExAC gnomAD |
|
| rs1312340282 | 2722 | F>S | No | TOPMed | |
| rs1196355281 | 2724 | Q>K | No | gnomAD | |
| rs1480035974 | 2724 | Q>P | No | gnomAD | |
|
RCV001978080 rs993289778 RCV002246634 |
2725 | G>D | No |
ClinVar dbSNP gnomAD |
|
| rs959905284 | 2726 | T>I | No | TOPMed | |
| rs1251318793 | 2727 | H>N | No |
TOPMed gnomAD |
|
|
rs183330533 RCV001209341 |
2727 | H>Q | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs1251318793 | 2727 | H>Y | No |
TOPMed gnomAD |
|
| rs1285936519 | 2728 | A>T | No |
TOPMed gnomAD |
|
| rs371763950 | 2730 | S>N | No |
ESP ExAC gnomAD |
|
| rs1319805106 | 2730 | S>R | No | gnomAD | |
| rs371763950 | 2730 | S>T | No |
ESP ExAC gnomAD |
|
| rs760805799 | 2731 | K>E | No |
ExAC gnomAD |
|
| rs192012160 | 2733 | M>I | No |
1000Genomes ExAC gnomAD |
|
| rs1390971164 | 2733 | M>K | No | gnomAD | |
| rs1390971164 | 2733 | M>T | No | gnomAD | |
| rs768019310 | 2733 | M>V | No |
ExAC TOPMed gnomAD |
|
| COSM919250 | 2734 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs764084254 | 2737 | D>H | No |
ExAC TOPMed gnomAD |
|
| rs771277566 | 2738 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs749707940 | 2738 | R>S | No |
ExAC gnomAD |
|
| rs1164764396 | 2741 | D>G | No | gnomAD | |
| TCGA novel | 2741 | D>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769478307 | 2742 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs769478307 | 2742 | G>D | No |
ExAC TOPMed gnomAD |
|
| rs866074025 | 2743 | Q>* | No | Ensembl | |
| rs747658844 | 2743 | Q>L | No |
ExAC gnomAD |
|
| rs1176405590 | 2745 | R>G | No | gnomAD | |
| COSM1348434 | 2745 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1015908102 | 2746 | I>N | No | Ensembl | |
| rs1178483158 | 2748 | V>A | No | gnomAD | |
| rs754887157 | 2751 | I>L | No |
ExAC TOPMed gnomAD |
|
| rs1177806952 | 2751 | I>M | No | TOPMed | |
| TCGA novel | 2751 | I>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746925948 | 2751 | I>T | No |
ExAC gnomAD |
|
| COSM1348433 | 2751 | I>Y | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1410458027 | 2754 | S>N | No |
TOPMed gnomAD |
|
| rs913558110 | 2754 | S>R | No | TOPMed | |
| rs1361334742 | 2755 | K>E | No | gnomAD | |
| rs2082947698 | 2756 | L>I | No | Ensembl | |
| rs2082946579 | 2757 | P>H | No | TOPMed | |
| rs2082947161 | 2757 | P>S | No | gnomAD | |
| rs1589583973 | 2758 | V>D | No | Ensembl | |
|
rs150537210 COSM3751887 RCV001822310 RCV003728018 |
2758 | V>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs2131975506 | 2761 | V>L | No | Ensembl | |
| rs1385226404 | 2765 | E>G | No |
TOPMed gnomAD |
|
| rs2082943654 | 2766 | K>E | No | gnomAD | |
| rs756312579 | 2766 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs202183299 | 2767 | Q>H | No |
ExAC TOPMed gnomAD |
|
| rs767495801 | 2769 | K>E | No |
ExAC gnomAD |
|
| rs797045238 | 2770 | A>S | No | gnomAD | |
|
rs797045238 RCV000193278 CA206647 |
2770 | A>T | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs2082939293 | 2772 | D>E | No | TOPMed | |
|
rs374606176 COSM3439263 |
2772 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP NCI-TCGA |
| rs773601745 | 2775 | D>E | No |
ExAC gnomAD |
|
| rs763275569 | 2775 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs142507637 | 2775 | D>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs142507637 | 2775 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1430963094 | 2777 | S>C | No | gnomAD | |
| rs769392065 | 2777 | S>I | No |
ExAC gnomAD |
|
| rs1490806028 | 2778 | V>A | No | gnomAD | |
| rs552690976 | 2778 | V>I | No |
1000Genomes ExAC gnomAD |
|
| rs1204370007 | 2779 | S>A | No | gnomAD | |
| rs1351121922 | 2780 | V>L | No | gnomAD | |
| rs1351121922 | 2780 | V>M | No | gnomAD | |
| rs137932298 | 2781 | Q>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs137932298 | 2781 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| COSM919249 | 2783 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1564790518 | 2783 | D>V | No | Ensembl | |
| rs2082929861 | 2783 | D>Y | No | Ensembl | |
| rs1306794015 | 2784 | F>V | No | TOPMed | |
| rs778862880 | 2785 | M>I | No |
ExAC gnomAD |
|
| rs756050517 | 2785 | M>L | No |
ExAC TOPMed gnomAD |
|
| rs2082926736 | 2785 | M>T | No | Ensembl | |
| rs756050517 | 2785 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs530841877 | 2786 | V>A | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2082925521 | 2786 | V>I | No | TOPMed | |
| rs1387523284 | 2788 | K>R | No |
TOPMed gnomAD |
|
| rs2131975195 | 2789 | T>A | No | Ensembl | |
| rs2082921910 | 2789 | T>I | No | gnomAD | |
| rs1218596787 | 2792 | E>G | No | gnomAD | |
| rs754989066 | 2793 | H>Q | No |
ExAC TOPMed gnomAD |
|
| rs186832733 | 2793 | H>R | No |
1000Genomes ExAC |
|
| rs145834553 | 2796 | S>G | No |
ESP ExAC gnomAD |
|
| rs766834377 | 2796 | S>I | No |
ExAC TOPMed gnomAD |
|
|
rs766834377 RCV001997963 |
2796 | S>N | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs765525412 | 2798 | E>G | No |
ExAC gnomAD |
|
| rs1447381235 | 2799 | I>S | No |
TOPMed gnomAD |
|
| rs1447381235 | 2799 | I>T | No |
TOPMed gnomAD |
|
| rs1198984492 | 2800 | V>I | No |
TOPMed gnomAD |
|
| rs1173912527 | 2802 | N>H | No | Ensembl | |
| COSM3439261 | 2803 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1428519987 | 2805 | G>C | No | TOPMed | |
| rs1205695066 | 2806 | S>C | No | gnomAD | |
| COSM3867507 | 2807 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1352232837 | 2808 | N>I | No | TOPMed | |
| rs2082909455 | 2809 | V>L | No | Ensembl | |
| rs776136748 | 2811 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs776136748 | 2811 | K>Q | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 2812 | Q>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1270188992 | 2813 | R>G | No | gnomAD | |
| rs1228706230 | 2816 | M>I | No | gnomAD | |
| rs2082906864 | 2816 | M>L | No | TOPMed | |
| rs768405710 | 2817 | S>* | No |
ExAC gnomAD |
|
| rs2082905740 | 2817 | S>T | No | Ensembl | |
| rs2082904578 | 2818 | S>G | No | gnomAD | |
| rs760062332 | 2819 | K>N | No |
ExAC gnomAD |
|
| rs775161872 | 2820 | A>G | No |
ExAC gnomAD |
|
|
RCV000761720 rs1452344286 |
2820 | A>P | No |
ClinVar dbSNP gnomAD |
|
| rs1452344286 | 2820 | A>T | No | gnomAD | |
| rs772076201 | 2821 | M>T | No |
ExAC gnomAD |
|
| rs2082901701 | 2821 | M>V | No | TOPMed | |
| rs2082900008 | 2822 | P>S | No | TOPMed | |
| TCGA novel | 2823 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1005558373 | 2824 | S>P | No |
TOPMed gnomAD |
|
| TCGA novel | 2824 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3439260 | 2826 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2082898135 | 2827 | E>K | No | Ensembl | |
| rs1167270371 | 2829 | Q>K | No | gnomAD | |
| rs779056830 | 2830 | A>S | No |
ExAC gnomAD |
|
| rs1281703433 | 2832 | D>V | No | TOPMed | |
| rs2082894513 | 2833 | L>V | No | TOPMed | |
| COSM684798 | 2834 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2082893898 | 2834 | A>T | No | Ensembl | |
| COSM684800 | 2834 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1443750227 | 2836 | H>R | No |
TOPMed gnomAD |
|
| rs199656517 | 2836 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
1000Genomes ExAC NCI-TCGA gnomAD |
| rs755262102 | 2837 | I>T | No |
ExAC gnomAD |
|
|
RCV002083155 rs200218631 |
2838 | T>A | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1272325293 | 2838 | T>N | No | gnomAD | |
| rs2082889003 | 2839 | S>* | No | Ensembl | |
| rs2082887681 | 2842 | A>T | No | Ensembl | |
| rs932454279 | 2843 | T>A | No |
TOPMed gnomAD |
|
| rs1203846124 | 2843 | T>I | No | TOPMed | |
| TCGA novel | 2844 | R>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs375975947 | 2844 | R>K | No | Ensembl | |
| rs1043299353 | 2846 | P>L | No | Ensembl | |
| rs1490882322 | 2846 | P>S | No | TOPMed | |
| COSM1348432 | 2846 | P>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs143371149 | 2847 | W>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs2131974654 | 2848 | D>E | No | Ensembl | |
| rs1267898689 | 2849 | K>E | No |
TOPMed gnomAD |
|
| TCGA novel | 2850 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs765832011 | 2851 | V>F | No |
ExAC gnomAD |
|
| rs1417254699 | 2852 | F>C | No |
TOPMed gnomAD |
|
| rs1417254699 | 2852 | F>S | No |
TOPMed gnomAD |
|
| rs754272097 | 2855 | W>G | No |
ExAC gnomAD |
|
| rs763602377 | 2856 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs760415684 | 2857 | S>G | No |
ExAC gnomAD |
|
| rs775073865 | 2857 | S>R | No |
ExAC gnomAD |
|
| rs771704073 | 2858 | S>A | No |
ExAC gnomAD |
|
| rs78194762 | 2858 | S>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1367058383 | 2859 | G>E | No |
TOPMed gnomAD |
|
| rs1402716179 | 2860 | A>G | No |
TOPMed gnomAD |
|
| rs960393863 | 2860 | A>T | No | TOPMed | |
| TCGA novel | 2860 | A>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs748998872 RCV002041432 |
2861 | T>I | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs748998872 | 2861 | T>N | No |
ExAC TOPMed gnomAD |
|
| COSM1492311 | 2861 | T>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1468751716 | 2863 | N>H | No |
TOPMed gnomAD |
|
|
RCV002049345 rs149138713 |
2863 | N>K | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs371964932 | 2863 | N>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs375040820 | 2866 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs745997409 | 2867 | K>R | No |
ExAC TOPMed gnomAD |
|
|
rs866590077 COSM2148581 |
2868 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs1220503613 | 2869 | K>N | No |
TOPMed gnomAD |
|
| rs76355066 | 2869 | K>T | No | TOPMed | |
| rs77548603 | 2870 | L>F | No | Ensembl | |
|
rs201118487 COSM193432 |
2871 | S>L | ovary large_intestine endometrium [Cosmic] | No |
cosmic curated ESP ExAC TOPMed gnomAD |
| rs1360619323 | 2871 | S>P | No |
TOPMed gnomAD |
|
| rs2082860095 | 2872 | H>R | No | TOPMed | |
| rs1024469451 | 2872 | H>Y | No | TOPMed | |
| rs1278563360 | 2874 | L>F | No |
TOPMed gnomAD |
|
| rs1278563360 | 2874 | L>I | No |
TOPMed gnomAD |
|
| COSM4840943 | 2876 | H>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs369495151 | 2876 | H>R | No |
ExAC gnomAD |
|
| COSM3439259 | 2876 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2082856403 | 2877 | D>E | No | TOPMed | |
| rs756612417 | 2877 | D>V | No |
ExAC gnomAD |
|
| rs767323388 | 2882 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs773940692 | 2883 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs759083265 | 2883 | I>V | No |
ExAC gnomAD |
|
| rs963158886 | 2884 | G>C | No |
TOPMed gnomAD |
|
| rs963158886 | 2884 | G>R | No |
TOPMed gnomAD |
|
| rs779497634 | 2884 | G>V | No |
TOPMed gnomAD |
|
|
rs11599164 VAR_059115 RCV001520012 RCV000116343 CA151808 |
2885 | H>Q | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1463586522 | 2886 | P>A | No | gnomAD | |
| TCGA novel | 2887 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1471206053 | 2890 | S>I | No |
TOPMed gnomAD |
|
| rs1471206053 | 2890 | S>N | No |
TOPMed gnomAD |
|
| rs1271660185 | 2892 | D>E | No | gnomAD | |
|
RCV000444081 CA5511508 rs769577208 |
2892 | D>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2082845977 | 2892 | D>V | No | TOPMed | |
| rs1401664356 | 2893 | Q>E | No |
TOPMed gnomAD |
|
| TCGA novel | 2894 | K>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5511507 RCV000513403 rs747994876 |
2895 | N>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1283192443 | 2896 | E>A | No | gnomAD | |
| COSM3439258 | 2896 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2082840918 | 2897 | F>L | No | Ensembl | |
| rs775667996 | 2897 | F>L | No |
ExAC gnomAD |
|
| COSM265997 | 2899 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1222350588 | 2901 | T>I | No | gnomAD | |
| TCGA novel | 2902 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1315878202 | 2904 | E>D | No |
TOPMed gnomAD |
|
| rs779062292 | 2904 | E>Q | No |
ExAC gnomAD |
|
|
rs757636476 RCV001964852 COSM673798 |
2905 | R>C | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs757636476 | 2905 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs373699753 | 2905 | R>H | No |
ESP ExAC TOPMed gnomAD |
|
| rs373699753 | 2905 | R>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs757636476 | 2905 | R>S | No |
ExAC TOPMed gnomAD |
|
| rs191058357 | 2906 | K>N | No |
1000Genomes ExAC gnomAD |
|
| rs2082833713 | 2907 | L>S | No | Ensembl | |
|
rs753149099 RCV001883244 |
2910 | N>D | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs753149099 | 2910 | N>Y | No |
ExAC TOPMed gnomAD |
|
| rs141680257 | 2911 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1464434035 | 2912 | S>F | No | TOPMed | |
| rs1185275671 | 2912 | S>P | No | gnomAD | |
| rs1475300316 | 2914 | S>L | No |
TOPMed gnomAD |
|
| rs901301768 | 2916 | I>N | No |
TOPMed gnomAD |
|
| rs901301768 | 2916 | I>T | No |
TOPMed gnomAD |
|
| rs2082825006 | 2918 | E>G | No | Ensembl | |
|
rs1589573731 COSM684802 |
2919 | M>I | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
| rs1202560407 | 2919 | M>T | No | gnomAD | |
| rs762441225 | 2919 | M>V | No |
ExAC gnomAD |
|
| rs112125772 | 2920 | T>A | No | Ensembl | |
| rs773187995 | 2921 | V>L | No |
ExAC gnomAD |
|
| rs2082820689 | 2922 | K>T | No |
TOPMed gnomAD |
|
| rs765209107 | 2924 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs1181995641 | 2924 | P>R | No | Ensembl | |
|
COSM138764 rs765209107 |
2924 | P>S | skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs761565516 | 2925 | S>A | No |
ExAC TOPMed gnomAD |
|
| rs1215884242 | 2925 | S>F | No | gnomAD | |
| rs1361048485 | 2926 | K>R | No | gnomAD | |
| rs776444593 | 2927 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs776444593 | 2927 | K>Q | No |
ExAC TOPMed gnomAD |
|
| rs1589573195 | 2927 | K>R | No | Ensembl | |
| TCGA novel | 2928 | V>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2082815420 | 2929 | L>S | No | TOPMed | |
| rs772221749 | 2930 | Y>C | No |
ExAC TOPMed gnomAD |
|
| rs2082814798 | 2930 | Y>H | No | Ensembl | |
| rs772221749 | 2930 | Y>S | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 2931 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1470377667 | 2931 | R>S | No | gnomAD | |
| rs1336322584 | 2931 | R>T | No | gnomAD | |
| rs1408317421 | 2932 | E>Q | No |
TOPMed gnomAD |
|
| rs1168959272 | 2933 | Y>F | No | gnomAD | |
| rs867338505 | 2934 | V>F | No | Ensembl | |
| rs2082808965 | 2936 | K>E | No | Ensembl | |
| rs1420817118 | 2936 | K>R | No | gnomAD | |
| COSM5596258 | 2937 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1383229842 | 2938 | G>E | No | TOPMed | |
| rs2082805670 | 2942 | G>D | No |
TOPMed gnomAD |
|
| TCGA novel | 2942 | G>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774501041 | 2943 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs749376047 | 2945 | L>F | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 2945 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762436750 | 2946 | D>Y | No |
ExAC gnomAD |
|
| COSM3867505 | 2947 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs748473760 | 2949 | S>C | No |
ExAC gnomAD |
|
| rs748473760 | 2949 | S>F | No |
ExAC gnomAD |
|
| rs1230429202 | 2952 | S>N | No | gnomAD | |
| rs1408880622 | 2952 | S>R | No | TOPMed | |
| rs1589571819 | 2953 | E>D | No | TOPMed | |
| rs370916329 | 2953 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs2131973463 | 2956 | A>P | No | Ensembl | |
| rs779631156 | 2957 | V>A | No |
ExAC gnomAD |
|
| rs779631156 | 2957 | V>E | No |
ExAC gnomAD |
|
| rs2082793524 | 2959 | H>R | No | Ensembl | |
| rs2082794158 | 2959 | H>Y | No |
TOPMed gnomAD |
|
| rs749945127 | 2960 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs757906806 | 2960 | I>V | No |
ExAC gnomAD |
|
| rs1173141962 | 2961 | P>T | No | gnomAD | |
| rs145256821 | 2962 | V>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001857684 rs145256821 RCV000192410 CA205216 |
2962 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs753560521 | 2963 | R>T | No |
ExAC gnomAD |
|
| rs763868881 | 2964 | V>I | No |
ExAC gnomAD |
|
| rs2082787611 | 2965 | A>T | No | TOPMed | |
| rs2082785245 | 2966 | D>E | No | gnomAD | |
| rs376008911 | 2966 | D>N | No |
ESP TOPMed gnomAD |
|
| rs1457198047 | 2970 | M>I | No | gnomAD | |
| rs2082784684 | 2970 | M>V | No | Ensembl | |
| rs1564783323 | 2973 | S>F | No | Ensembl | |
| rs112665191 | 2973 | S>P | No | Ensembl | |
| rs763047751 | 2974 | N>I | No |
ExAC TOPMed gnomAD |
|
| rs2082780272 | 2976 | P>H | No | Ensembl | |
| COSM3439256 | 2976 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs770365214 | 2976 | P>S | No |
ExAC gnomAD |
|
| rs1305123551 | 2977 | D>E | No |
TOPMed gnomAD |
|
| rs377666009 | 2977 | D>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs1390948510 | 2978 | G>D | No | gnomAD | |
| rs1179183385 | 2980 | C>R | No | TOPMed | |
| rs1374070544 | 2980 | C>Y | No | gnomAD | |
| COSM3867504 | 2981 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1472479657 | 2982 | Q>* | No | TOPMed | |
| rs1472479657 | 2982 | Q>E | No | TOPMed | |
|
COSM2148575 rs747386150 |
2983 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs758020654 | 2984 | A>P | No |
ExAC TOPMed gnomAD |
|
| rs758020654 | 2984 | A>T | No |
ExAC TOPMed gnomAD |
|
| rs1369906645 | 2984 | A>V | No |
TOPMed gnomAD |
|
| rs749889380 | 2986 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs2082769634 | 2988 | H>Y | No | gnomAD | |
| rs142195181 | 2989 | E>K | No |
ESP ExAC gnomAD |
|
| rs1184302793 | 2991 | S>P | No |
TOPMed gnomAD |
|
|
RCV001967654 rs2131973043 |
2992 | Q>K | No |
ClinVar Ensembl dbSNP |
|
| TCGA novel | 2994 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_061014 RCV000116345 CA248694 RCV001521158 rs41274672 |
2996 | Q>H | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs865876565 | 2999 | M>K | No |
TOPMed gnomAD |
|
| rs865876565 | 2999 | M>T | No |
TOPMed gnomAD |
|
| rs1259195368 | 2999 | M>V | No | gnomAD | |
| COSM3439255 | 3001 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs571038699 | 3002 | E>A | No |
1000Genomes ExAC gnomAD |
|
| rs530192165 | 3003 | T>R | No | gnomAD | |
| rs2131972966 | 3006 | T>A | No | Ensembl | |
| rs2082757670 | 3007 | Q>H | No | Ensembl | |
| rs200068199 | 3007 | Q>L | No |
ExAC gnomAD |
|
| rs200068199 | 3007 | Q>R | No |
ExAC gnomAD |
|
| rs763095806 | 3008 | H>P | No |
ExAC TOPMed gnomAD |
|
| COSM73659 | 3008 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3736006 rs763095806 |
3008 | H>R | skin [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs773361259 | 3012 | I>T | No |
ExAC TOPMed gnomAD |
|
| rs1564781516 | 3012 | I>V | No | gnomAD | |
| rs1383183959 | 3013 | E>G | No | gnomAD | |
| rs762043039 | 3014 | D>A | No |
ExAC gnomAD |
|
| rs765405058 | 3014 | D>N | No |
ExAC TOPMed gnomAD |
|
| rs769086951 | 3017 | V>L | No |
ExAC gnomAD |
|
| rs143903352 | 3018 | T>I | No |
1000Genomes ESP ExAC gnomAD |
|
| rs143903352 | 3018 | T>N | No |
1000Genomes ESP ExAC gnomAD |
|
| rs1564781047 | 3019 | Y>H | No | Ensembl | |
| rs2082748890 | 3020 | S>L | No | TOPMed | |
| rs2082747606 | 3023 | S>T | No | Ensembl | |
| rs1434688394 | 3025 | V>L | No |
TOPMed gnomAD |
|
| rs2082745794 | 3026 | S>F | No | TOPMed | |
| rs1204796443 | 3027 | K>E | No |
TOPMed gnomAD |
|
| rs1564780785 | 3027 | K>R | No | Ensembl | |
| rs2082744017 | 3028 | H>R | No | TOPMed | |
| rs1200688625 | 3029 | Q>K | No |
TOPMed gnomAD |
|
| rs1271482716 | 3029 | Q>R | No | TOPMed | |
| rs367808856 | 3030 | S>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs142337658 | 3030 | S>N | No |
ESP ExAC gnomAD |
|
| rs2082741018 | 3031 | Y>H | No | TOPMed | |
| rs2082739871 | 3032 | V>I | No | gnomAD | |
|
COSM465807 rs1206788662 |
3033 | G>R | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1201926098 | 3034 | L>V | No | gnomAD | |
| rs777726523 | 3035 | C>Y | No |
ExAC TOPMed gnomAD |
|
| COSM1474686 | 3037 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2082735919 | 3037 | P>S | No | Ensembl | |
| rs767219836 | 3039 | E>D | No |
ExAC gnomAD |
|
| rs777012359 | 3039 | E>K | No |
TOPMed gnomAD |
|
| COSM3439254 | 3040 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1425521219 | 3043 | T>A | No |
TOPMed gnomAD |
|
| rs750662925 | 3043 | T>N | No |
ExAC gnomAD |
|
| rs1425521219 | 3043 | T>P | No |
TOPMed gnomAD |
|
|
RCV000116347 RCV001522646 rs74153183 CA151815 |
3046 | T>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1009329743 COSM3439253 |
3049 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs563874031 | 3051 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs563874031 | 3051 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs2082725768 | 3052 | L>S | No |
TOPMed gnomAD |
|
| COSM919244 | 3054 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs150243993 | 3055 | S>R | No |
ESP TOPMed gnomAD |
|
| rs1263793315 | 3056 | P>L | No |
TOPMed gnomAD |
|
| rs1263793315 | 3056 | P>R | No |
TOPMed gnomAD |
|
| rs1338074818 | 3057 | G>A | No | gnomAD | |
| COSM3439252 | 3057 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2082721744 | 3058 | K>N | No | gnomAD | |
|
rs868622451 COSM3439251 |
3059 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| rs1228683196 | 3060 | S>P | No | gnomAD | |
| rs376855070 | 3060 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1299364308 COSM1718027 |
3061 | P>S | NS Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs1299364308 | 3061 | P>T | No | gnomAD | |
| rs2082717860 | 3063 | S>C | No | TOPMed | |
| rs530039382 | 3064 | D>E | No |
1000Genomes ExAC gnomAD |
|
|
rs568053112 RCV001948417 COSM1348431 |
3067 | D>N | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs1167250594 | 3069 | S>G | No |
TOPMed gnomAD |
|
| COSM3439250 | 3070 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs546473891 | 3071 | I>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2082713256 | 3073 | G>A | No | Ensembl | |
| rs765520078 | 3077 | L>R | No |
ExAC gnomAD |
|
| rs372601342 | 3078 | A>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs372601342 | 3078 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs760863871 | 3079 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs760863871 | 3079 | P>Q | No |
ExAC TOPMed gnomAD |
|
| rs2082708128 | 3081 | A>V | No | TOPMed | |
| rs563907907 | 3082 | Q>R | No | 1000Genomes | |
|
RCV001254948 rs759850374 |
3084 | E>D | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2082706552 | 3084 | E>V | No | Ensembl | |
| COSM3439249 | 3085 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3439248 rs866679919 |
3086 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl NCI-TCGA |
| COSM919243 | 3086 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1554866952 | 3087 | K>N | No | Ensembl | |
| TCGA novel | 3087 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1589564201 | 3088 | E>D | No | gnomAD | |
| rs774720847 | 3088 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs983228771 | 3089 | I>M | No | Ensembl | |
| rs1358334538 | 3089 | I>R | No |
TOPMed gnomAD |
|
| rs1358334538 | 3089 | I>T | No |
TOPMed gnomAD |
|
| rs2131972081 | 3090 | K>Q | No | Ensembl | |
| TCGA novel | 3091 | T>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs879012403 | 3091 | T>S | No | Ensembl | |
| rs929130072 | 3092 | L>S | No |
TOPMed gnomAD |
|
| rs770512838 | 3093 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs770512838 | 3093 | P>T | No |
ExAC TOPMed gnomAD |
|
|
rs769176550 COSM5518976 |
3094 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs780407914 | 3095 | Y>C | No |
TOPMed gnomAD |
|
| rs2082699015 | 3095 | Y>H | No | TOPMed | |
| rs780407914 | 3095 | Y>S | No |
TOPMed gnomAD |
|
| rs545596119 | 3096 | V>I | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1247483855 | 3099 | V>I | No | gnomAD | |
| rs1312494259 | 3100 | Q>E | No |
TOPMed gnomAD |
|
| rs780962210 | 3101 | V>A | No |
ExAC gnomAD |
|
| rs768749795 | 3104 | Q>K | No |
ExAC gnomAD |
|
| rs975988329 | 3105 | Y>F | No | Ensembl | |
|
RCV001908874 rs1165156356 |
3105 | Y>H | No |
ClinVar TOPMed dbSNP gnomAD |
|
| COSM3439246 | 3106 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1779512645 | 3106 | E>K | No | TOPMed | |
| TCGA novel | 3106 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 3108 | E>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780011014 | 3112 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs1273436990 | 3112 | G>R | No | gnomAD | |
| rs780011014 | 3112 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs2131971885 | 3113 | G>S | No | Ensembl | |
| rs148162364 | 3115 | K>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs778103752 | 3116 | K>N | No |
ExAC gnomAD |
|
| rs1589562707 | 3116 | K>Q | No | Ensembl | |
|
rs370637835 COSM1348429 |
3117 | I>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
CA151817 VAR_059116 rs28932171 RCV000116348 RCV001520011 |
3117 | I>V | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
RCV001817252 rs374913530 |
3118 | I>V | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs760048880 | 3121 | E>G | No |
ExAC gnomAD |
|
| rs766724028 | 3122 | C>G | No |
1000Genomes ExAC gnomAD |
|
| rs766724028 | 3122 | C>R | No |
1000Genomes ExAC gnomAD |
|
| rs766724028 | 3122 | C>S | No |
1000Genomes ExAC gnomAD |
|
| rs1048486985 | 3125 | V>L | No | Ensembl | |
| rs769527509 | 3126 | Q>L | No |
ExAC TOPMed gnomAD |
|
| rs2082679827 | 3128 | T>N | No | Ensembl | |
| rs776230615 | 3129 | R>M | No |
ExAC gnomAD |
|
| rs768660263 | 3129 | R>S | No |
ExAC TOPMed gnomAD |
|
|
TCGA novel rs1003088173 |
3130 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| rs2082676339 | 3132 | F>S | No | TOPMed | |
| rs771967681 | 3133 | Y>F | No |
ExAC gnomAD |
|
| rs1478564654 | 3135 | T>A | No | gnomAD | |
| rs777814113 | 3137 | Q>H | No |
ExAC gnomAD |
|
| rs2131971540 | 3137 | Q>P | No | Ensembl | |
| rs756377705 | 3139 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs2082672830 | 3142 | P>S | No | TOPMed | |
| rs752661020 | 3143 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs866839799 | 3144 | P>L | No | Ensembl | |
| COSM3439243 | 3144 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2082668692 | 3145 | Q>H | No | gnomAD | |
| rs553731786 | 3145 | Q>K | No |
1000Genomes ExAC gnomAD |
|
| rs1261179632 | 3145 | Q>L | No | gnomAD | |
| rs755115488 | 3146 | G>D | No |
ExAC gnomAD |
|
| rs1222778820 | 3146 | G>R | No | gnomAD | |
| COSM3790862 | 3150 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 3152 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1428348747 | 3152 | T>S | No | gnomAD | |
|
RCV002006088 rs2131971323 |
3157 | S>A | No |
ClinVar Ensembl dbSNP |
|
| rs2082662212 | 3160 | D>N | No | Ensembl | |
| TCGA novel | 3161 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1415497030 | 3162 | S>C | No |
TOPMed gnomAD |
|
| rs2131971278 | 3165 | S>C | No | Ensembl | |
| rs1185188144 | 3165 | S>R | No | gnomAD | |
| rs1475291460 | 3166 | P>H | No | gnomAD | |
| rs1475291460 | 3166 | P>L | No | gnomAD | |
|
RCV000504227 CA377003041 rs1554865795 |
3167 | L>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1247094865 | 3168 | T>I | No | gnomAD | |
| rs1188740094 | 3169 | P>S | No |
1000Genomes TOPMed gnomAD |
|
| TCGA novel | 3170 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs763695793 | 3172 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs760307361 | 3172 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs763695793 | 3172 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs1226886144 | 3175 | E>K | No |
TOPMed gnomAD |
|
| rs866441469 | 3176 | E>K | No | Ensembl | |
| TCGA novel | 3177 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs146469363 | 3179 | Y>C | No |
ESP ExAC TOPMed gnomAD |
|
| rs769841771 | 3186 | P>H | No |
ExAC TOPMed gnomAD |
|
| rs769841771 | 3186 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs769841771 | 3186 | P>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
RCV001874995 rs2082650574 |
3186 | P>T | No |
ClinVar TOPMed dbSNP |
|
| rs1298616453 | 3188 | S>L | No |
TOPMed gnomAD |
|
| rs1298616453 | 3188 | S>W | No |
TOPMed gnomAD |
|
| rs755029765 | 3191 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs1158073537 | 3191 | A>T | No | Ensembl | |
| rs1173402327 | 3194 | P>L | No | TOPMed | |
| rs1470907514 | 3194 | P>S | No |
TOPMed gnomAD |
|
| TCGA novel | 3195 | G>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4014930 | 3195 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1361483331 | 3195 | G>D | No | gnomAD | |
| COSM919242 | 3197 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 3198 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs758967911 | 3200 | I>M | No |
ExAC gnomAD |
|
| rs2082642114 | 3201 | P>L | No | gnomAD | |
| rs750699498 | 3201 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1450993041 | 3202 | E>K | No |
TOPMed gnomAD |
|
| rs757632186 | 3203 | V>A | No |
ExAC gnomAD |
|
| COSM427731 | 3203 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 3204 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2082636643 | 3211 | E>K | No | TOPMed | |
| rs1564773342 | 3212 | Q>E | No | Ensembl | |
| rs1408389273 | 3212 | Q>R | No |
TOPMed gnomAD |
|
| rs1239146228 | 3213 | A>T | No | gnomAD | |
| rs2082632041 | 3215 | S>L | No | TOPMed | |
| rs753530916 | 3216 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs763876187 | 3216 | T>N | No |
ExAC TOPMed gnomAD |
|
| rs760221192 | 3217 | S>F | No |
ExAC gnomAD |
|
|
rs1060499742 CA16609525 RCV000454308 |
3218 | L>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs2131970794 | 3220 | Q>E | No | Ensembl | |
| rs1357610340 | 3220 | Q>R | No | gnomAD | |
| rs2082626303 | 3222 | T>I | No | Ensembl | |
| rs2082624697 | 3223 | V>E | No | TOPMed | |
| rs775158098 | 3223 | V>M | No |
ExAC gnomAD |
|
|
COSM225651 rs867499524 |
3225 | E>K | NS Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| rs1276642406 | 3225 | E>V | No | Ensembl | |
| rs1564772874 | 3226 | T>A | No | Ensembl | |
| rs2082620795 | 3226 | T>R | No |
TOPMed gnomAD |
|
| rs2082620162 | 3227 | A>S | No | gnomAD | |
| rs2082620162 | 3227 | A>T | No | gnomAD | |
| rs61732399 | 3228 | V>I | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61732399 RCV000962013 |
3228 | V>L | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs145590509 | 3230 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs749129953 | 3230 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs145590509 | 3230 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
|
rs940415590 COSM1603588 |
3231 | E>K | liver [Cosmic] | No |
cosmic curated TOPMed gnomAD |
| rs747043475 | 3236 | V>L | No |
ExAC TOPMed gnomAD |
|
| rs1189431623 | 3237 | S>G | No | TOPMed | |
| TCGA novel | 3239 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs780122220 | 3240 | S>C | No |
ExAC gnomAD |
|
| rs1564772401 | 3242 | Q>R | No | gnomAD | |
| rs368175435 | 3244 | P>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs368175435 | 3244 | P>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs779350430 | 3245 | K>Q | No |
ExAC gnomAD |
|
| rs757608033 | 3245 | K>R | No |
ExAC gnomAD |
|
|
rs2131970577 RCV001873936 |
3246 | N>H | No |
ClinVar Ensembl dbSNP |
|
| rs1175435990 | 3246 | N>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2082611148 | 3246 | N>T | No | gnomAD | |
|
RCV000502332 rs956407567 CA207324284 |
3247 | N>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs1035854083 | 3248 | R>T | No | Ensembl | |
| rs2082607234 | 3252 | I>M | No |
TOPMed gnomAD |
|
| rs1207121324 | 3252 | I>V | No | gnomAD | |
| rs1489795458 | 3253 | E>K | No | gnomAD | |
| rs536279152 | 3253 | E>V | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2082605556 | 3254 | F>C | No | TOPMed | |
| rs867013789 | 3255 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
Ensembl NCI-TCGA |
| TCGA novel | 3256 | P>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3415143 | 3257 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2082603510 | 3257 | P>L | No | Ensembl | |
| rs2082602401 | 3260 | L>V | No | Ensembl | |
| rs752186598 | 3262 | A>E | No |
ExAC TOPMed gnomAD |
|
| rs2082601864 | 3262 | A>T | No |
TOPMed gnomAD |
|
|
RCV001817385 rs752186598 RCV003728019 |
3262 | A>V | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs2131970397 | 3263 | D>E | No | Ensembl | |
| rs751490583 | 3263 | D>G | No |
ExAC TOPMed gnomAD |
|
| rs751490583 | 3263 | D>V | No |
ExAC TOPMed gnomAD |
|
| rs2082598747 | 3264 | Q>H | No | Ensembl | |
| rs200645558 | 3264 | Q>K | No |
TOPMed gnomAD |
|
| rs1290739014 | 3265 | I>N | No |
TOPMed gnomAD |
|
| COSM684803 | 3265 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2082597634 | 3267 | S>P | No | Ensembl | |
| rs766268239 | 3268 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1564771541 | 3268 | D>N | No | Ensembl | |
| rs374277448 | 3269 | K>E | No |
ESP ExAC gnomAD |
|
| rs1156367313 | 3271 | H>P | No | gnomAD | |
| rs1589555190 | 3271 | H>Y | No |
TOPMed gnomAD |
|
| rs908996050 | 3273 | Y>C | No | TOPMed | |
| rs768809700 | 3274 | L>I | No | ExAC | |
| rs1333637150 | 3274 | L>P | No |
TOPMed gnomAD |
|
| rs2082589136 | 3277 | K>N | No | TOPMed | |
| rs2082588222 | 3278 | E>G | No | Ensembl | |
|
rs775646259 COSM3439240 |
3278 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs745987844 | 3279 | V>D | No |
ExAC gnomAD |
|
| rs745987844 | 3279 | V>G | No |
ExAC gnomAD |
|
| rs546508880 | 3281 | M>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM919240 | 3282 | I>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM465806 rs749603197 |
3282 | I>T | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs1259178452 | 3282 | I>V | No |
TOPMed gnomAD |
|
| rs1329868927 | 3283 | E>Q | No |
TOPMed gnomAD |
|
| rs2082581957 | 3285 | N>D | No | Ensembl | |
| rs2082581957 | 3285 | N>H | No | Ensembl | |
| rs1330908691 | 3285 | N>S | No |
TOPMed gnomAD |
|
| rs778284062 | 3289 | E>K | No |
ExAC gnomAD |
|
| rs141555121 | 3291 | D>E | No |
1000Genomes TOPMed gnomAD |
|
|
COSM1660525 rs1564770469 |
3291 | D>G | kidney [Cosmic] | No |
cosmic curated Ensembl |
| rs1456264743 | 3293 | Y>S | No | gnomAD | |
| rs921500244 | 3294 | Q>R | No |
TOPMed gnomAD |
|
| rs2082576432 | 3295 | L>P | No |
TOPMed gnomAD |
|
| rs1187820174 | 3296 | A>S | No | TOPMed | |
| rs1589553351 | 3297 | E>D | No | Ensembl | |
| rs2082574372 | 3297 | E>K | No | Ensembl | |
| rs570562727 | 3298 | P>A | No | 1000Genomes | |
| rs570562727 | 3298 | P>S | No | 1000Genomes | |
| rs1376963370 | 3300 | I>V | No |
TOPMed gnomAD |
|
| rs1448545099 | 3301 | R>G | No |
TOPMed gnomAD |
|
| rs976049855 | 3302 | V>E | No |
TOPMed gnomAD |
|
| rs2131969990 | 3302 | V>M | No | Ensembl | |
| rs1434671070 | 3303 | Q>L | No | gnomAD | |
| rs1465425152 | 3307 | P>T | No | gnomAD | |
|
COSM3439239 rs965626264 |
3309 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed |
| rs2082566827 | 3309 | P>T | No | Ensembl | |
| rs2082565317 | 3310 | P>L | No | Ensembl | |
| rs1201831116 | 3311 | G>R | No |
TOPMed gnomAD |
|
| rs1257096025 | 3312 | A>S | No | gnomAD | |
| rs1257096025 | 3312 | A>T | No | gnomAD | |
| rs956747731 | 3313 | D>V | No |
TOPMed gnomAD |
|
| rs901710400 | 3314 | V>I | No |
TOPMed gnomAD |
|
|
rs147211098 COSM107646 |
3316 | D>N | skin [Cosmic] | No |
cosmic curated Ensembl |
| COSM3985672 | 3317 | S>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs374022277 | 3318 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs370076710 | 3319 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs375742067 | 3320 | D>E | No |
ESP ExAC TOPMed gnomAD |
|
| rs1173029125 | 3320 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
|
rs140902380 RCV002211147 |
3321 | E>G | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs372719095 | 3321 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 3323 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs151005010 | 3323 | I>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs151005010 | 3323 | I>T | No |
ESP ExAC TOPMed gnomAD |
|
|
CA16606667 rs1057522763 RCV000437265 |
3324 | Y>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs748500313 | 3326 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs748500313 | 3326 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs1441905236 | 3326 | P>T | No |
TOPMed gnomAD |
|
| rs764684109 | 3328 | P>L | No | Ensembl | |
|
rs148029765 COSM109560 |
3328 | P>S | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
| rs910492095 | 3330 | K>E | No |
TOPMed gnomAD |
|
| TCGA novel | 3331 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754609979 | 3331 | K>N | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 3332 | Y>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779436835 | 3334 | F>L | No |
ExAC TOPMed gnomAD |
|
| rs2131969571 | 3334 | F>L | No | Ensembl | |
| rs757974301 | 3335 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs757974301 | 3335 | K>T | No |
ExAC TOPMed gnomAD |
|
| COSM3439238 | 3338 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1337459791 | 3340 | D>G | No | TOPMed | |
|
rs1337459791 RCV000994400 |
3340 | D>V | No |
ClinVar TOPMed dbSNP |
|
|
COSM3439237 rs765213109 |
3341 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs2082546110 | 3342 | E>A | No | Ensembl | |
| rs1307227555 | 3342 | E>D | No |
TOPMed gnomAD |
|
| rs139048397 | 3343 | Q>E | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs139048397 | 3343 | Q>K | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs868199299 | 3344 | K>R | No | Ensembl | |
| rs759680076 | 3345 | E>K | No |
ExAC gnomAD |
|
| rs747987853 | 3346 | K>N | No |
ExAC gnomAD |
|
| rs766551810 | 3347 | P>R | No |
ExAC gnomAD |
|
| rs1369093094 | 3347 | P>S | No | gnomAD | |
|
rs146213267 RCV002033062 |
3348 | K>E | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs773823329 | 3350 | S>Y | No |
ExAC gnomAD |
|
|
CA208462 RCV000959107 RCV000194346 rs61845768 |
3352 | E>G | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs928819495 | 3353 | K>R | No |
TOPMed gnomAD |
|
| rs928819495 | 3353 | K>T | No |
TOPMed gnomAD |
|
| rs1207655770 | 3355 | S>F | No | gnomAD | |
| COSM919238 | 3355 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1276336115 | 3355 | S>T | No | gnomAD | |
| COSM3439236 | 3355 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1246315728 | 3356 | N>T | No | gnomAD | |
| rs776874127 | 3356 | N>Y | No |
ExAC gnomAD |
|
| rs1348631856 | 3357 | Q>E | No |
TOPMed gnomAD |
|
| rs1287637905 | 3357 | Q>R | No |
TOPMed gnomAD |
|
|
CA377001595 rs1554863720 RCV000504048 |
3360 | L>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1410225043 | 3361 | E>G | No | gnomAD | |
| rs1410225043 | 3361 | E>V | No | gnomAD | |
|
rs746638120 RCV002033364 |
3362 | S>N | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs746638120 | 3362 | S>T | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 3366 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2131969264 RCV002016971 |
3366 | G>R | No |
ClinVar Ensembl dbSNP |
|
| rs779742640 | 3367 | K>N | No |
ExAC gnomAD |
|
| rs1165136191 | 3368 | D>E | No | gnomAD | |
| TCGA novel | 3368 | D>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1391701739 | 3368 | D>N | No | gnomAD | |
| COSM3439235 | 3370 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1455695625 | 3372 | G>V | No | gnomAD | |
| rs757884517 | 3373 | L>F | No |
ExAC gnomAD |
|
|
rs2131969212 RCV001969193 |
3374 | G>C | No |
ClinVar Ensembl dbSNP |
|
|
rs2082527916 TCGA novel |
3378 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1183447723 | 3380 | N>I | No | gnomAD | |
| rs745426523 | 3381 | E>A | No |
ExAC TOPMed gnomAD |
|
| rs2082525894 | 3381 | E>D | No | TOPMed | |
|
rs2082526864 COSM3439234 |
3381 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic gnomAD |
| rs2082525363 | 3382 | I>M | No | TOPMed | |
| rs1245295580 | 3383 | A>V | No | gnomAD | |
|
rs778769380 COSM414994 |
3384 | Q>H | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000440210 CA5511277 rs148635129 |
3388 | N>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs763790019 | 3389 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA gnomAD |
| rs2082520894 | 3390 | Q>R | No | TOPMed | |
| rs755994684 | 3392 | I>F | No |
ExAC TOPMed gnomAD |
|
| rs755994684 | 3392 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs2082518971 | 3394 | E>V | No | TOPMed | |
| COSM3439233 | 3396 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs751707901 | 3399 | T>I | No |
ExAC gnomAD |
|
| rs2082516673 | 3400 | T>I | No | TOPMed | |
| rs769340915 | 3402 | E>V | No | Ensembl | |
| rs868245048 | 3403 | F>Y | No | Ensembl | |
| TCGA novel | 3404 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2082515109 | 3405 | H>Y | No | Ensembl | |
| rs766747866 | 3406 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs763086860 | 3407 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs559357054 | 3408 | D>G | No |
1000Genomes ExAC gnomAD |
|
| TCGA novel | 3409 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762232864 | 3412 | I>M | No |
ExAC TOPMed gnomAD |
|
| rs2082510897 | 3413 | D>N | No | Ensembl | |
| rs1172426614 | 3417 | G>D | No | gnomAD | |
| rs541758160 | 3418 | Y>C | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs912815823 | 3419 | D>A | No | TOPMed | |
| rs376290283 | 3422 | D>E | No |
ESP TOPMed gnomAD |
|
| TCGA novel | 3422 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 3423 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2131968886 | 3426 | G>V | No | Ensembl | |
| COSM427730 | 3427 | L>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3439232 | 3427 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1218438381 | 3430 | S>N | No | gnomAD | |
| rs1342286501 | 3430 | S>R | No |
TOPMed gnomAD |
|
| rs1276395320 | 3430 | S>R | No | gnomAD | |
| rs2082501126 | 3432 | S>C | No | gnomAD | |
| rs2082500560 | 3434 | L>F | No |
TOPMed gnomAD |
|
| rs1589546485 | 3434 | L>P | No | Ensembl | |
| rs2082499002 | 3435 | P>L | No | gnomAD | |
| rs771747311 | 3436 | I>V | No |
ExAC gnomAD |
|
| COSM3439231 | 3437 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs745321315 | 3438 | A>V | No |
ExAC TOPMed gnomAD |
|
|
rs1433103950 COSM465804 |
3439 | M>T | kidney Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| COSM3439230 | 3442 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs778395196 | 3444 | D>V | No |
ExAC gnomAD |
|
| rs1364700158 | 3444 | D>Y | No | gnomAD | |
|
rs1475463874 RCV001894727 |
3445 | I>M | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1273275880 | 3445 | I>N | No | Ensembl | |
| COSM3439228 | 3446 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1645125224 | 3447 | N>H | No | TOPMed | |
| rs1437361566 | 3447 | N>S | No | gnomAD | |
| rs2082492843 | 3450 | G>D | No | TOPMed | |
| rs770538636 | 3450 | G>R | No |
ExAC gnomAD |
|
| rs770538636 | 3450 | G>S | No |
ExAC gnomAD |
|
| rs2082492292 | 3452 | L>V | No | TOPMed | |
| rs749165324 | 3455 | A>T | No |
ExAC gnomAD |
|
|
CA5511258 RCV000481459 rs777814492 |
3457 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| rs777814492 | 3457 | R>G | No |
ExAC TOPMed gnomAD |
|
|
rs755833235 RCV002088281 |
3457 | R>H | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs755833235 | 3457 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs752570841 | 3459 | F>S | No |
ExAC TOPMed gnomAD |
|
| rs373115573 | 3461 | Q>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs373115573 | 3461 | Q>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs750462634 | 3462 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs765405132 | 3463 | K>Q | No |
ExAC gnomAD |
|
| rs369897458 | 3465 | E>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs369897458 | 3465 | E>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs544037384 | 3468 | E>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1564764214 | 3469 | E>G | No | Ensembl | |
| COSM5837080 | 3469 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs960575854 | 3470 | E>D | No | TOPMed | |
| COSM4816856 | 3470 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 3471 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775858181 | 3471 | G>V | No |
ExAC gnomAD |
|
| rs759181986 | 3472 | K>N | No |
ExAC gnomAD |
|
| rs576543207 | 3473 | V>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs576543207 | 3473 | V>M | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2082477813 | 3475 | P>L | No | Ensembl | |
| rs2082477329 | 3478 | D>E | No | Ensembl | |
| rs2082476797 | 3479 | K>R | No | TOPMed | |
| rs2082475701 | 3481 | P>S | No | Ensembl | |
| rs1405277238 | 3482 | S>F | No | TOPMed | |
| rs2082474734 | 3483 | K>R | No |
TOPMed gnomAD |
|
| COSM3439226 | 3484 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs748867182 | 3485 | S>C | No |
ExAC TOPMed gnomAD |
|
| rs748867182 | 3485 | S>F | No |
ExAC TOPMed gnomAD |
|
| COSM919237 | 3485 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs761113318 | 3487 | S>F | No | gnomAD | |
|
rs138339150 RCV001965505 |
3487 | S>P | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs138339150 | 3487 | S>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs747894899 | 3488 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs1303332545 | 3488 | E>Q | No |
TOPMed gnomAD |
|
| rs1306612552 | 3490 | T>I | No | gnomAD | |
| rs2082468867 | 3491 | P>S | No | Ensembl | |
| rs2082467044 | 3492 | D>E | No | TOPMed | |
| rs2082467978 | 3492 | D>G | No | TOPMed | |
| rs1043668493 | 3493 | K>N | No | Ensembl | |
| rs781139582 | 3494 | T>P | No |
ExAC gnomAD |
|
| rs1369569420 | 3495 | D>N | No | gnomAD | |
| rs1369569420 | 3495 | D>Y | No | gnomAD | |
| rs779247436 | 3499 | G>E | No |
ExAC gnomAD |
|
| rs2082462406 | 3500 | A>S | No | TOPMed | |
| rs2082462406 | 3500 | A>T | No | TOPMed | |
| COSM684804 | 3501 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3439224 | 3510 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs113860115 | 3512 | R>G | No | Ensembl | |
| rs2082460308 | 3512 | R>T | No | Ensembl | |
| rs753987504 | 3514 | V>A | No |
ExAC gnomAD |
|
| rs764463584 | 3516 | P>R | No |
ExAC gnomAD |
|
| rs2082459364 | 3516 | P>S | No | gnomAD | |
| COSM318683 | 3517 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2082456589 | 3520 | F>L | No | Ensembl | |
| rs199522145 | 3521 | S>G | No |
ExAC TOPMed gnomAD |
|
| rs753265298 | 3521 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs753265298 | 3521 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs1312144873 | 3525 | D>E | No | gnomAD | |
| COSM4404430 | 3526 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs368274922 | 3529 | A>T | No | Ensembl | |
| rs201731022 | 3530 | T>A | No |
1000Genomes ExAC gnomAD |
|
| rs996319497 | 3531 | P>S | No | TOPMed | |
| rs759940253 | 3534 | T>A | No |
ExAC gnomAD |
|
| rs773959864 | 3534 | T>I | No |
ExAC gnomAD |
|
| rs1429950150 | 3536 | A>V | No |
TOPMed gnomAD |
|
| rs1463240651 | 3537 | T>A | No | gnomAD | |
| rs1347736649 | 3537 | T>I | No | gnomAD | |
| rs1463240651 | 3537 | T>P | No | gnomAD | |
| rs1347736649 | 3537 | T>S | No | gnomAD | |
| rs2082446871 | 3538 | K>R | No | gnomAD | |
| rs769553086 | 3539 | G>C | No |
ExAC TOPMed gnomAD |
|
| rs1405442377 | 3539 | G>D | No |
TOPMed gnomAD |
|
| rs769553086 | 3539 | G>R | No |
ExAC TOPMed gnomAD |
|
| rs1405442377 | 3539 | G>V | No |
TOPMed gnomAD |
|
| rs1419945801 | 3541 | D>H | No | gnomAD | |
| rs1419945801 | 3541 | D>N | No | gnomAD | |
| rs1179851287 | 3543 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| COSM919236 | 3544 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1039806588 | 3545 | W>L | No |
TOPMed gnomAD |
|
| rs748093962 | 3547 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs1178692429 | 3548 | N>D | No | gnomAD | |
| rs2082440926 | 3549 | R>G | No | Ensembl | |
| rs776768218 | 3549 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs1428520546 | 3550 | G>R | No | gnomAD | |
| rs1265068590 | 3551 | D>G | No | gnomAD | |
|
rs376597004 COSM3439222 |
3553 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ESP ExAC NCI-TCGA gnomAD |
| rs746842936 | 3555 | F>V | No |
ExAC gnomAD |
|
| rs778965873 | 3556 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs757526141 | 3557 | S>G | No |
ExAC TOPMed gnomAD |
|
|
RCV002010517 rs757526141 |
3557 | S>R | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs749272857 | 3559 | S>T | No | ExAC | |
| rs2082434576 | 3560 | R>L | No | Ensembl | |
| rs756241696 | 3560 | R>P | No |
ExAC TOPMed gnomAD |
|
|
rs756241696 CA5511214 RCV000444863 |
3560 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs777899600 COSM1348426 |
3560 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs867794288 | 3561 | E>K | No | Ensembl | |
| rs2082432738 | 3562 | D>G | No | TOPMed | |
| rs2082432222 | 3563 | E>* | No | Ensembl | |
| COSM3439221 | 3563 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs371852697 | 3564 | T>A | No | ESP | |
| rs1366775254 | 3565 | K>N | No | TOPMed | |
| rs1476926239 | 3566 | P>L | No |
TOPMed gnomAD |
|
| rs768050877 | 3566 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| rs768050877 | 3566 | P>T | No |
ExAC TOPMed gnomAD |
|
|
RCV001912703 rs751975399 |
3567 | F>L | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs755295217 | 3567 | F>L | No |
ExAC TOPMed gnomAD |
|
|
RCV002003603 rs1395970554 |
3568 | G>E | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs765889848 | 3570 | A>T | No |
ExAC gnomAD |
|
| rs762671321 | 3570 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| COSM3439220 | 3572 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM427729 | 3572 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1589539988 | 3573 | D>A | No | Ensembl | |
| rs764792586 | 3574 | R>C | No |
ExAC gnomAD |
|
| rs764792586 | 3574 | R>G | No |
ExAC gnomAD |
|
| rs761460860 | 3574 | R>H | No |
ExAC TOPMed gnomAD |
|
| rs776682023 | 3576 | P>S | No |
ExAC gnomAD |
|
| rs2082422607 | 3577 | A>P | No |
TOPMed gnomAD |
|
|
RCV001985023 rs143009194 |
3577 | A>V | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1589539623 | 3579 | T>P | No | Ensembl | |
| rs1246310758 | 3581 | D>A | No |
TOPMed gnomAD |
|
| rs775373831 | 3581 | D>E | No |
ExAC gnomAD |
|
|
RCV000414611 rs1057518261 CA16042798 |
3581 | D>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM3439219 | 3582 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs2082418178 COSM84012 |
3583 | T>M | Variant assessed as Somatic; MODERATE impact. pancreas central_nervous_system [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated Ensembl |
|
COSM3699926 rs749510069 |
3586 | R>K | liver [Cosmic] | No |
cosmic curated ExAC |
| rs1231536152 | 3587 | T>A | No | gnomAD | |
|
rs1311916565 COSM919235 |
3587 | T>M | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs1564760492 | 3589 | T>A | No | Ensembl | |
| COSM919234 | 3590 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1234518187 | 3591 | E>D | No |
TOPMed gnomAD |
|
| rs756153597 | 3592 | S>N | No |
ExAC TOPMed gnomAD |
|
|
rs748256287 RCV003479316 RCV001351906 |
3595 | T>A | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs1390672871 | 3598 | P>L | No | TOPMed | |
| TCGA novel | 3603 | F>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs141513495 | 3604 | H>Q | No |
1000Genomes ExAC gnomAD |
|
| rs2082409383 | 3604 | H>R | No | TOPMed | |
|
TCGA novel rs2082409895 |
3604 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
|
rs868691543 COSM1702504 |
3606 | G>E | skin [Cosmic] | No |
cosmic curated Ensembl |
| COSM1348425 | 3608 | M>C | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 3611 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM5515345 rs2082407390 |
3613 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
| COSM339932 | 3613 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs751804173 | 3617 | I>V | No |
ExAC TOPMed gnomAD |
|
|
CA376998218 rs368045259 RCV000522444 |
3623 | D>N | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs368045259 | 3623 | D>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs758748209 | 3624 | F>S | No |
ExAC gnomAD |
|
| COSM3439218 | 3626 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2082403457 | 3627 | E>D | No | TOPMed | |
| rs1188083372 | 3628 | R>G | No |
TOPMed gnomAD |
|
| rs1397398620 | 3628 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs867686051 | 3630 | Q>P | No | Ensembl | |
| rs1264496652 | 3634 | I>T | No |
TOPMed gnomAD |
|
| rs1483145753 | 3638 | T>P | No |
TOPMed gnomAD |
|
| TCGA novel | 3638 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1256993204 | 3640 | E>K | No | gnomAD | |
| rs765024639 | 3643 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs1349671568 | 3644 | G>E | No | gnomAD | |
| rs1320328836 | 3647 | G>E | No |
TOPMed gnomAD |
|
| rs1412041936 | 3647 | G>R | No | gnomAD | |
|
rs761370414 COSM1702503 |
3648 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
| rs1326439227 | 3649 | G>R | No | gnomAD | |
| rs764068414 | 3650 | D>A | No |
ExAC gnomAD |
|
| rs764068414 | 3650 | D>G | No |
ExAC gnomAD |
|
|
rs776305737 COSM3867500 |
3650 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs776305737 | 3650 | D>Y | No |
ExAC TOPMed gnomAD |
|
|
rs115903343 CA5511183 RCV000513727 |
3651 | K>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1589536482 | 3653 | M>T | No | Ensembl | |
| rs1305790106 | 3654 | V>G | No | gnomAD | |
| rs1589536306 | 3655 | T>P | No | Ensembl | |
| rs2082390201 | 3655 | T>S | No | gnomAD | |
| rs2082389458 | 3656 | A>S | No | Ensembl | |
| rs2082389458 | 3656 | A>T | No | Ensembl | |
| TCGA novel | 3656 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771875157 | 3657 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs1589536161 | 3657 | T>P | No | Ensembl | |
| rs916671598 | 3660 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs991982953 | 3661 | Q>R | No | TOPMed | |
| rs2082381593 | 3664 | D>V | No | gnomAD | |
| rs781254027 | 3664 | D>Y | No |
ExAC TOPMed gnomAD |
|
| COSM3985670 | 3666 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs138540912 RCV001985853 |
3667 | V>I | No |
ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
| rs780475961 | 3668 | E>D | No |
ExAC TOPMed gnomAD |
|
| rs1203953342 | 3669 | T>I | No | gnomAD | |
| rs750787171 | 3672 | E>K | No |
ExAC gnomAD |
|
| COSM1297336 | 3676 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs756986467 | 3677 | T>R | No |
ExAC gnomAD |
|
| TCGA novel | 3677 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs2082373303 COSM3439217 |
3678 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic TOPMed gnomAD |
| rs1293762028 | 3678 | P>S | No | gnomAD | |
| rs1014828876 | 3681 | E>G | No |
TOPMed gnomAD |
|
| rs2082371441 | 3682 | P>S | No | TOPMed | |
| rs2082371441 | 3682 | P>T | No | TOPMed | |
| rs753336556 | 3683 | N>K | No |
ExAC gnomAD |
|
| rs1410781769 | 3684 | P>A | No |
TOPMed gnomAD |
|
| rs1398878657 | 3684 | P>L | No | gnomAD | |
| rs763679409 | 3685 | S>R | No |
ExAC gnomAD |
|
|
rs201289326 RCV000501472 RCV001851398 CA5511166 |
3687 | P>L | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs201289326 | 3687 | P>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1251601750 | 3688 | T>S | No | gnomAD | |
| rs141012790 | 3689 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 3690 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1252227510 | 3690 | G>R | No |
TOPMed gnomAD |
|
| rs1207556778 | 3690 | G>V | No |
TOPMed gnomAD |
|
| rs762018914 | 3691 | E>A | No |
ExAC TOPMed gnomAD |
|
| rs776896529 | 3694 | E>K | No |
ExAC TOPMed gnomAD |
|
| rs747100065 | 3696 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs747100065 | 3696 | T>K | No |
ExAC TOPMed gnomAD |
|
|
rs148109897 RCV001531686 |
3697 | S>C | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs148109897 | 3697 | S>F | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs148109897 | 3697 | S>Y | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs143147597 | 3698 | S>G | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs143147597 | 3698 | S>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV001863386 rs149078894 |
3700 | G>D | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs149078894 | 3700 | G>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1386293132 | 3702 | L>P | No | gnomAD | |
| rs1486052966 | 3704 | K>R | No |
TOPMed gnomAD |
|
| rs1486052966 | 3704 | K>T | No |
TOPMed gnomAD |
|
|
rs1395242519 COSM3985669 |
3705 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
| rs1052752244 | 3705 | S>L | No | Ensembl | |
| rs368602474 | 3706 | A>P | No |
ESP ExAC TOPMed gnomAD |
|
| rs368602474 | 3706 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs547465292 | 3707 | A>P | No |
1000Genomes ExAC gnomAD |
|
| rs547465292 | 3707 | A>T | No |
1000Genomes ExAC gnomAD |
|
| rs2082348198 | 3711 | T>A | No | TOPMed | |
|
COSM465803 rs1411859773 |
3712 | S>F | kidney [Cosmic] | No |
cosmic curated gnomAD |
| rs2082347658 | 3712 | S>P | No | Ensembl | |
| rs1589532585 | 3713 | K>E | No | Ensembl | |
| rs755607925 | 3714 | V>A | No |
ExAC gnomAD |
|
| rs2082345561 | 3715 | D>V | No | TOPMed | |
| rs1471324561 | 3716 | P>L | No | gnomAD | |
| COSM4014928 | 3717 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs767429955 | 3718 | L>F | No |
ExAC TOPMed gnomAD |
|
|
rs748061808 COSM1348423 |
3719 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine bone [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| rs748061808 | 3719 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs201547988 | 3720 | T>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1348422 RCV001817534 rs201547988 RCV002074289 VAR_068703 |
3720 | T>M | pancreas large_intestine found in a patient with autism; uncertain significance [Cosmic, UniProt] | No |
cosmic curated ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
| rs2082338284 | 3722 | I>M | No | TOPMed | |
| rs2082339114 | 3722 | I>T | No | TOPMed | |
| rs760761642 | 3722 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs775448362 | 3723 | K>N | No |
ExAC gnomAD |
|
|
TCGA novel rs2082337491 |
3723 | K>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs939432810 | 3724 | M>I | No | TOPMed | |
| rs992265189 | 3724 | M>L | No |
TOPMed gnomAD |
|
| rs992265189 | 3724 | M>V | No |
TOPMed gnomAD |
|
|
rs866080086 COSM3439215 |
3725 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| COSM1283406 | 3727 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2082334551 | 3728 | A>S | No | Ensembl | |
| rs2082333328 | 3729 | S>A | No |
TOPMed gnomAD |
|
| rs772567632 | 3730 | T>I | No |
ExAC gnomAD |
|
| rs2082330856 | 3731 | M>T | No | TOPMed | |
| rs746376879 | 3731 | M>V | No |
ExAC TOPMed gnomAD |
|
| rs2082329935 | 3733 | M>I | No | TOPMed | |
| rs775043377 | 3733 | M>R | No |
ExAC gnomAD |
|
| rs916110550 | 3736 | E>G | No | Ensembl | |
| rs749698365 | 3737 | G>S | No |
ExAC gnomAD |
|
| rs755733306 | 3739 | G>E | No |
ExAC TOPMed gnomAD |
|
| rs777516599 | 3739 | G>R | No |
ExAC gnomAD |
|
| rs747626239 | 3742 | T>I | No |
ExAC gnomAD |
|
| rs749747980 | 3744 | K>N | No | gnomAD | |
| rs1195026666 | 3745 | I>L | No |
TOPMed gnomAD |
|
| rs984907290 | 3745 | I>M | No | Ensembl | |
| rs780561892 | 3745 | I>T | No |
ExAC gnomAD |
|
| rs1195026666 | 3745 | I>V | No |
TOPMed gnomAD |
|
| rs145110517 | 3747 | A>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs780980701 | 3749 | M>I | No | Ensembl | |
| rs930785870 | 3749 | M>V | No | Ensembl | |
| rs919532354 | 3750 | T>A | No | Ensembl | |
|
RCV000499703 CA5511127 RCV002060095 rs200489439 |
3751 | S>G | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs758138271 | 3751 | S>N | No |
ExAC TOPMed gnomAD |
|
| rs750247618 | 3752 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
| COSM69639 | 3752 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs966074903 | 3754 | G>E | No | gnomAD | |
| rs974802718 | 3756 | E>A | No | TOPMed | |
| COSM3867498 | 3758 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1589530052 | 3759 | T>I | No | Ensembl | |
| rs2082316495 | 3760 | I>V | No | TOPMed | |
| rs201369977 | 3761 | T>A | No |
1000Genomes ExAC gnomAD |
|
| rs775835976 | 3761 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs775835976 | 3761 | T>R | No |
ExAC TOPMed gnomAD |
|
| rs1271317777 | 3762 | M>K | No |
TOPMed gnomAD |
|
| rs1271317777 | 3762 | M>T | No |
TOPMed gnomAD |
|
| rs986249509 | 3762 | M>V | No |
TOPMed gnomAD |
|
| rs759743353 | 3763 | I>T | No |
ExAC gnomAD |
|
| rs767485893 | 3763 | I>V | No |
ExAC gnomAD |
|
| rs774953499 | 3766 | T>A | No |
ExAC TOPMed gnomAD |
|
| rs774953499 | 3766 | T>P | No |
ExAC TOPMed gnomAD |
|
| rs2082310195 | 3768 | N>K | No |
TOPMed gnomAD |
|
| rs771599842 | 3768 | N>S | No |
ExAC TOPMed gnomAD |
|
| rs2131965714 | 3770 | Q>P | No | Ensembl | |
| rs773464013 | 3771 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs2082309069 | 3771 | M>V | No | gnomAD | |
| rs201931482 | 3773 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs2131965649 | 3775 | P>T | No | Ensembl | |
| rs200306902 | 3776 | H>P | No |
1000Genomes ExAC gnomAD |
|
| rs553845189 | 3776 | H>Q | No |
1000Genomes ExAC TOPMed gnomAD |
|
| COSM3439213 | 3777 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs758334296 | 3778 | K>N | No |
ExAC TOPMed gnomAD |
|
| COSM1348420 | 3778 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM919233 | 3778 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1307105556 | 3779 | H>D | No | gnomAD | |
| rs750157753 | 3779 | H>L | No |
ExAC TOPMed gnomAD |
|
| rs750157753 | 3779 | H>P | No |
ExAC TOPMed gnomAD |
|
| rs750157753 | 3779 | H>R | No |
ExAC TOPMed gnomAD |
|
| rs778555217 | 3783 | K>N | No | ExAC | |
| rs1300116876 | 3784 | D>G | No | TOPMed | |
| rs2082299139 | 3786 | F>V | No | Ensembl | |
| rs2082298612 | 3788 | N>S | No | TOPMed | |
| rs1564753294 | 3789 | N>K | No | Ensembl | |
|
RCV000905299 rs144123544 |
3789 | N>S | No |
ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs1227463754 | 3790 | N>S | No |
TOPMed gnomAD |
|
|
CA5511103 RCV001857072 RCV000499762 rs768074492 |
3791 | N>missing | No |
ClinGen ClinVar dbSNP |
|
| rs376463806 | 3791 | N>S | No |
ESP ExAC gnomAD |
|
| rs74648979 | 3791 | N>Y | No | Ensembl | |
| rs999736820 | 3794 | S>A | No |
TOPMed gnomAD |
|
| COSM919232 | 3794 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1357701203 RCV001931197 |
3796 | T>A | No |
ClinVar TOPMed dbSNP gnomAD |
|
| rs1357701203 | 3796 | T>S | No |
TOPMed gnomAD |
|
| rs767806331 | 3798 | Q>* | No | ExAC | |
| rs767806331 | 3798 | Q>K | No | ExAC | |
| rs1353550533 | 3800 | D>G | No | gnomAD | |
| rs779846656 | 3802 | I>T | No | Ensembl | |
|
rs759652500 RCV002028503 |
3804 | S>N | No |
ClinVar ExAC dbSNP gnomAD |
|
| rs751696439 | 3805 | N>H | No |
ExAC gnomAD |
|
| rs1164071654 | 3805 | N>K | No | gnomAD | |
| rs1589527571 | 3806 | I>T | No | Ensembl | |
| TCGA novel | 3807 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1348419 rs1475431412 |
3808 | L>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
RCV000436104 CA16605882 rs1057521542 |
3809 | T>I | No |
ClinGen ClinVar dbSNP gnomAD |
|
| rs2082284316 | 3811 | H>R | No | TOPMed | |
| rs906230824 | 3812 | S>F | No |
TOPMed gnomAD |
|
| rs2082283839 | 3814 | P>H | No | Ensembl | |
| rs183602732 | 3815 | T>I | No |
1000Genomes ExAC gnomAD |
|
| rs773836503 | 3815 | T>P | No |
ExAC gnomAD |
|
| rs762286836 | 3816 | C>F | No |
ExAC gnomAD |
|
| rs1011976239 | 3816 | C>R | No |
TOPMed gnomAD |
|
| rs762286836 | 3816 | C>Y | No |
ExAC gnomAD |
|
| rs750047206 | 3817 | T>A | No | TOPMed | |
| rs1273128803 | 3817 | T>S | No | gnomAD | |
| rs2131965223 | 3818 | T>I | No | Ensembl | |
| rs776098021 | 3819 | E>Q | No |
ExAC gnomAD |
|
| rs373434877 | 3821 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs1286895817 | 3822 | N>K | No | gnomAD | |
| rs1322623252 | 3823 | P>S | No |
TOPMed gnomAD |
|
| COSM3985668 | 3824 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 3826 | V>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs746447437 | 3826 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs746447437 | 3826 | V>L | No |
ExAC TOPMed gnomAD |
|
|
rs2082271667 TCGA novel |
3828 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
|
rs2131965089 TCGA novel |
3829 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs745784331 | 3831 | K>N | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 3834 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750004682 | 3834 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs750004682 | 3834 | V>L | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 3834 | V>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2082267478 | 3838 | H>P | No | TOPMed | |
| rs2082267478 | 3838 | H>R | No | TOPMed | |
|
rs2082268031 TCGA novel |
3838 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
|
TCGA novel rs2082265984 |
3839 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs1156766019 | 3839 | C>R | No | gnomAD | |
| rs755267606 | 3839 | C>W | No |
ExAC gnomAD |
|
| rs1409001811 | 3840 | V>L | No |
TOPMed gnomAD |
|
| rs1056489892 | 3842 | D>E | No |
TOPMed gnomAD |
|
| rs2082264194 | 3842 | D>N | No | gnomAD | |
| rs369515791 | 3846 | V>A | No |
ESP ExAC TOPMed gnomAD |
|
| rs369515791 | 3846 | V>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs1487562450 | 3846 | V>I | No |
TOPMed gnomAD |
|
| rs766563829 | 3847 | L>F | No |
ExAC gnomAD |
|
| COSM278821 | 3847 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs763166610 | 3847 | L>P | No |
ExAC TOPMed gnomAD |
|
| rs750873003 | 3848 | G>A | No |
ExAC TOPMed gnomAD |
|
| rs750873003 | 3848 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs1266711753 | 3849 | E>G | No | gnomAD | |
| rs1161759450 | 3851 | Q>H | No | TOPMed | |
| rs2131964885 | 3852 | K>R | No | Ensembl | |
| rs762042515 | 3853 | T>P | No | ExAC | |
|
rs2082255354 TCGA novel |
3854 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Ensembl |
| rs536449892 | 3856 | L>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs1463838119 | 3856 | L>S | No | gnomAD | |
| rs1368309459 | 3857 | I>L | No | gnomAD | |
| rs1564750962 | 3857 | I>R | No | gnomAD | |
| rs2082251885 | 3858 | G>A | No | TOPMed | |
| rs1302133277 | 3859 | I>S | No |
TOPMed gnomAD |
|
| rs1302133277 | 3859 | I>T | No |
TOPMed gnomAD |
|
| COSM1283407 | 3860 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2082249043 | 3861 | Q>E | No | gnomAD | |
| rs565823948 | 3863 | S>C | No |
1000Genomes ExAC gnomAD |
|
| rs1396600609 | 3863 | S>P | No | gnomAD | |
| rs1564750733 | 3864 | K>R | No | Ensembl | |
| rs778635116 | 3865 | L>H | No |
ExAC TOPMed gnomAD |
|
| rs1345521070 | 3866 | P>R | No | gnomAD | |
| rs761212770 | 3867 | I>L | No |
ExAC TOPMed gnomAD |
|
| rs770908501 | 3867 | I>R | No |
ExAC gnomAD |
|
| rs761212770 | 3867 | I>V | No |
ExAC TOPMed gnomAD |
|
| rs748980465 | 3868 | K>N | No |
ExAC gnomAD |
|
| rs201163929 | 3869 | A>S | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs201163929 | 3869 | A>T | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1561281 rs1351085518 |
3869 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| COSM4923298 | 3870 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs756041029 | 3871 | S>L | No |
ExAC TOPMed gnomAD |
|
| rs1246755112 | 3872 | P>T | No | gnomAD | |
|
rs2131964638 RCV001981229 |
3873 | K>R | No |
ClinVar Ensembl dbSNP |
|
| rs2082238079 | 3874 | D>G | No | Ensembl | |
| rs1214671904 | 3874 | D>H | No | gnomAD | |
| rs2082238079 | 3874 | D>V | No | Ensembl | |
| rs780473316 | 3875 | T>I | No | ExAC | |
| rs747204571 | 3875 | T>P | No |
ExAC gnomAD |
|
| rs753452693 | 3878 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs1345379716 | 3879 | N>S | No | gnomAD | |
| rs371591429 | 3880 | H>Y | No |
ESP ExAC TOPMed gnomAD |
|
| rs754358651 | 3881 | M>I | No |
ExAC TOPMed gnomAD |
|
| rs796415436 | 3881 | M>V | No | gnomAD | |
| rs1381617228 | 3882 | S>A | No | gnomAD | |
| rs2082230368 | 3882 | S>L | No | Ensembl | |
| rs761064500 | 3884 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs1440336911 | 3885 | K>N | No | TOPMed | |
| TCGA novel | 3886 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1257215124 | 3888 | K>R | No |
TOPMed gnomAD |
|
|
COSM309113 rs2082226203 |
3890 | K>R | lung [Cosmic] | No |
cosmic curated Ensembl |
| rs775097256 | 3892 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs2082224421 | 3892 | V>F | No | gnomAD | |
|
rs2082224421 RCV001817314 |
3892 | V>I | No |
ClinVar dbSNP gnomAD |
|
| rs1410323817 | 3894 | Q>P | No |
TOPMed gnomAD |
|
| rs758908403 | 3895 | S>F | No |
ExAC gnomAD |
|
| rs372175079 | 3896 | E>K | No |
ESP TOPMed |
|
| rs2131964366 | 3897 | K>N | No | Ensembl | |
| rs1192533519 | 3899 | K>R | No | gnomAD | |
| rs749245811 | 3900 | A>G | No |
ExAC gnomAD |
|
| rs561149417 | 3902 | T>S | No |
1000Genomes ExAC gnomAD |
|
| rs2082216762 | 3903 | T>P | No | Ensembl | |
| rs199864255 | 3904 | S>F | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs201833011 | 3904 | S>T | No |
1000Genomes TOPMed gnomAD |
|
| rs142931189 | 3906 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA |
| rs780383183 | 3907 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs2082212800 | 3908 | D>V | No |
TOPMed gnomAD |
|
| rs2082211653 | 3910 | K>Q | No | TOPMed | |
| rs1411381814 | 3912 | R>K | No |
TOPMed gnomAD |
|
| rs758649546 | 3913 | I>M | No |
ExAC gnomAD |
|
| rs761309540 | 3917 | N>D | No |
ExAC TOPMed gnomAD |
|
| rs775951684 | 3917 | N>K | No |
ExAC TOPMed gnomAD |
|
| TCGA novel | 3917 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 3917 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2082208087 | 3918 | T>R | No | gnomAD | |
| rs3134579 | 3919 | H>P | No | Ensembl | |
| rs1342486823 | 3919 | H>Q | No |
TOPMed gnomAD |
|
| rs1276082332 | 3919 | H>Y | No | TOPMed | |
| TCGA novel | 3920 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs374299193 | 3920 | R>S | No |
ESP ExAC TOPMed gnomAD |
|
| rs372070786 | 3921 | D>G | No |
ESP ExAC TOPMed gnomAD |
|
| rs372070786 | 3921 | D>V | No |
ESP ExAC TOPMed gnomAD |
|
| rs1023485391 | 3922 | N>D | No | Ensembl | |
| rs1416910140 | 3924 | I>T | No | gnomAD | |
| rs764629922 | 3926 | V>I | No |
ExAC TOPMed gnomAD |
|
| rs756434056 | 3929 | A>G | No |
ExAC TOPMed gnomAD |
|
| COSM919229 | 3929 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs756434056 | 3929 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs753168406 | 3930 | C>G | No | TOPMed | |
| rs753168406 | 3930 | C>R | No | TOPMed | |
| rs1375297907 | 3930 | C>S | No | gnomAD | |
| rs753168406 | 3930 | C>S | No | TOPMed | |
| rs767023596 | 3931 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs767023596 | 3931 | A>V | No |
ExAC TOPMed gnomAD |
|
| rs1190482445 | 3932 | T>R | No | gnomAD | |
| rs773944233 | 3932 | T>S | No |
ExAC gnomAD |
|
| rs200194489 | 3934 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs866601929 | 3936 | G>E | No | Ensembl | |
| rs1194739431 | 3936 | G>R | No |
TOPMed gnomAD |
|
| rs1012469081 | 3937 | Q>R | No |
TOPMed gnomAD |
|
| rs2082191976 | 3942 | K>Q | No | TOPMed | |
| rs747884842 | 3943 | A>D | No |
ExAC TOPMed gnomAD |
|
| rs1234902467 | 3943 | A>T | No | gnomAD | |
| rs1477059249 | 3945 | Q>R | No |
TOPMed gnomAD |
|
| rs2082188082 | 3946 | L>F | No | Ensembl | |
| rs1328368139 | 3951 | P>R | No | gnomAD | |
| rs1564747965 | 3952 | V>G | No | Ensembl | |
| rs1392056921 | 3953 | K>M | No | gnomAD | |
| rs1398677237 | 3954 | V>I | No | gnomAD | |
| rs768391934 | 3955 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1419191324 | 3955 | R>K | No | gnomAD | |
| rs779041475 | 3958 | C>G | No |
ExAC gnomAD |
|
| rs1361729926 | 3960 | T>I | No | gnomAD | |
| rs2082181302 | 3960 | T>S | No | Ensembl | |
| rs1361729926 | 3960 | T>S | No | gnomAD | |
| rs771016844 | 3961 | T>A | No |
ExAC gnomAD |
|
| TCGA novel | 3962 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs886511672 | 3963 | T>A | No | TOPMed | |
| rs886511672 | 3963 | T>P | No | TOPMed | |
| rs1438020108 | 3965 | T>A | No | gnomAD | |
| rs1387244533 | 3965 | T>N | No | TOPMed | |
|
RCV001890804 rs754855737 |
3966 | A>missing | No |
ClinVar dbSNP |
|
| rs1554858727 | 3966 | A>T | No | Ensembl | |
| rs749389112 | 3967 | T>A | No | ExAC | |
| rs749389112 | 3967 | T>P | No | ExAC | |
| rs778188873 | 3968 | T>A | No |
ExAC gnomAD |
|
| rs778188873 | 3968 | T>P | No |
ExAC gnomAD |
|
| rs753263187 | 3969 | T>A | No |
ExAC gnomAD |
|
| rs753263187 | 3969 | T>P | No |
ExAC gnomAD |
|
| rs577983384 | 3970 | T>N | No |
1000Genomes ExAC gnomAD |
|
| rs781618635 | 3970 | T>P | No | ExAC | |
| rs1564747024 | 3971 | T>A | No | gnomAD | |
| rs751204180 | 3972 | T>A | No | ExAC | |
| rs1279219897 | 3972 | T>I | No | gnomAD | |
| rs751204180 | 3972 | T>P | No | ExAC | |
| rs1240079115 | 3973 | T>I | No |
TOPMed gnomAD |
|
| rs1240079115 | 3973 | T>N | No |
TOPMed gnomAD |
|
| rs1564746361 | 3975 | T>A | No | Ensembl | |
| rs765969303 | 3976 | T>I | No |
ExAC TOPMed gnomAD |
|
|
rs765969303 RCV000444124 CA16605880 |
3976 | T>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs762511398 | 3977 | T>I | No | ExAC | |
| rs1048135278 | 3978 | T>P | No | Ensembl | |
|
rs548780827 RCV001981469 |
3978 | T>missing | No |
ClinVar dbSNP |
|
| COSM919227 | 3978 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1451549080 | 3979 | S>G | No | TOPMed | |
| rs749957951 | 3980 | C>Y | No |
ExAC gnomAD |
|
| rs1164942129 | 3981 | T>A | No | Ensembl | |
| rs1589516011 | 3982 | V>A | No | Ensembl | |
| rs1395857885 | 3982 | V>L | No | gnomAD | |
| rs2082144344 | 3983 | K>E | No | gnomAD | |
| rs1218864749 | 3984 | V>I | No | gnomAD | |
| rs2082142739 | 3987 | S>N | No | Ensembl | |
| rs368607611 | 3987 | S>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs776774073 | 3988 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs994320384 | 3988 | Q>H | No | Ensembl | |
| rs1564745757 | 3988 | Q>R | No | Ensembl | |
| rs911848355 | 3989 | L>P | No | Ensembl | |
| rs2082139831 | 3989 | L>V | No | TOPMed | |
| rs374607736 | 3992 | V>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs374607736 | 3992 | V>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs149557437 | 3993 | C>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs1470341861 | 3995 | H>N | No | gnomAD | |
| rs370147674 | 3997 | I>S | No |
ESP ExAC TOPMed gnomAD |
|
|
rs370147674 CA5510991 RCV001821195 RCV000439609 |
3997 | I>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs2082135308 | 3997 | I>V | No | gnomAD | |
| rs1453208796 | 3998 | E>A | No | gnomAD | |
| rs1453208796 | 3998 | E>V | No | gnomAD | |
| rs2082132546 | 3999 | Y>N | No | gnomAD | |
| rs2082132076 | 4000 | F>L | No | TOPMed | |
| COSM3867497 | 4002 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs769931720 | 4005 | G>V | No |
ExAC TOPMed gnomAD |
|
| rs748624337 | 4010 | L>F | No |
ExAC TOPMed gnomAD |
|
| rs1356199404 | 4010 | L>R | No | gnomAD | |
| rs781601009 | 4011 | V>M | No |
ExAC TOPMed gnomAD |
|
| rs111280541 | 4012 | D>E | No | Ensembl | |
| rs2131962826 | 4012 | D>G | No | Ensembl | |
| rs755321457 | 4013 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ExAC NCI-TCGA TOPMed gnomAD |
|
rs751902582 COSM1244963 |
4013 | R>H | oesophagus [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs2082126443 | 4017 | E>G | No | Ensembl | |
|
COSM4014926 rs2082125934 |
4018 | E>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic gnomAD |
| rs1429304892 | 4019 | K>N | No | gnomAD | |
| rs779690242 | 4019 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs1268832046 | 4020 | K>M | No | TOPMed | |
| rs1268832046 | 4020 | K>R | No | TOPMed | |
| COSM1348418 | 4020 | K>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1268832046 | 4020 | K>T | No | TOPMed | |
| rs1402737291 | 4021 | M>I | No | gnomAD | |
| rs750156227 | 4021 | M>T | No |
ExAC gnomAD |
|
| rs764834522 | 4022 | Q>L | No |
ExAC gnomAD |
|
| rs764834522 | 4022 | Q>P | No |
ExAC gnomAD |
|
| rs924335893 | 4024 | E>D | No |
TOPMed gnomAD |
|
| rs377041799 | 4024 | E>Q | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs561525408 RCV002021420 |
4027 | D>N | No |
ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs879140742 | 4030 | E>A | No | Ensembl | |
| rs749325930 | 4032 | T>I | No |
ExAC gnomAD |
|
|
RCV000433422 rs1057523322 CA16605646 |
4033 | S>L | No |
ClinGen ClinVar TOPMed dbSNP |
|
| rs373883428 | 4036 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM919225 rs370783050 |
4037 | S>L | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| rs370783050 | 4037 | S>W | No |
ESP ExAC TOPMed gnomAD |
|
| rs1280901852 | 4038 | L>W | No | gnomAD | |
| rs2082112127 | 4039 | S>C | No | TOPMed | |
|
COSM3439208 rs201115226 |
4040 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs747340588 | 4041 | T>I | No |
ExAC TOPMed gnomAD |
|
| rs769048129 | 4041 | T>P | No |
ExAC gnomAD |
|
| rs747340588 | 4041 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs758898774 | 4043 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs780267265 | 4043 | R>W | No |
ExAC TOPMed gnomAD |
|
| rs2082107608 | 4044 | G>D | No | TOPMed | |
| rs777870972 | 4044 | G>R | No |
ExAC gnomAD |
|
| rs777870972 | 4044 | G>S | No |
ExAC gnomAD |
|
| rs376635747 | 4045 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs866529659 | 4046 | Q>H | No | gnomAD | |
| rs2082105132 | 4046 | Q>R | No | Ensembl | |
| rs756773808 | 4048 | S>A | No |
ExAC gnomAD |
|
| rs2082101854 | 4049 | V>A | No | Ensembl | |
| rs1478745817 | 4049 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA gnomAD |
| rs2082101342 | 4050 | T>I | No | TOPMed | |
| rs549463670 | 4051 | T>A | No |
1000Genomes ExAC gnomAD |
|
| rs531332857 | 4051 | T>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
|
rs531332857 COSM2148510 |
4051 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs531332857 | 4051 | T>R | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs150420865 | 4052 | K>Q | No |
ESP ExAC TOPMed |
|
| rs2082097394 | 4054 | A>D | No | Ensembl | |
| rs1202541879 | 4054 | A>T | No | gnomAD | |
| rs1260428668 | 4056 | D>H | No |
TOPMed gnomAD |
|
| rs1564743518 | 4057 | K>E | No | gnomAD | |
| rs1564743518 | 4057 | K>Q | No | gnomAD | |
| rs2082095462 | 4058 | K>E | No | TOPMed | |
| rs1274365180 | 4059 | T>R | No | gnomAD | |
| rs773375240 | 4062 | A>T | No |
ExAC gnomAD |
|
| rs1333307276 | 4063 | P>H | No |
TOPMed gnomAD |
|
| rs1333307276 | 4063 | P>L | No |
TOPMed gnomAD |
|
| TCGA novel | 4065 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1003527535 | 4067 | K>N | No |
TOPMed gnomAD |
|
| rs765475373 | 4068 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs1234278376 | 4070 | K>E | No | gnomAD | |
| rs1379446115 | 4071 | A>T | No | gnomAD | |
| TCGA novel | 4071 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs140830125 | 4072 | G>R | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs140830125 | 4072 | G>S | No |
1000Genomes ESP ExAC TOPMed gnomAD |
|
| rs2082089822 | 4073 | S>N | No | Ensembl | |
| rs549248778 | 4074 | E>K | No |
1000Genomes ExAC gnomAD |
|
| rs2082088543 | 4075 | K>R | No | Ensembl | |
| rs1467174463 | 4076 | R>K | No | gnomAD | |
| rs1175664164 | 4081 | T>N | No | gnomAD | |
| rs1175664164 | 4081 | T>S | No | gnomAD | |
|
COSM3439206 COSM3439207 |
4086 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs759908871 | 4086 | P>T | No |
ExAC gnomAD |
|
| rs774847086 | 4089 | R>Q | No |
ExAC TOPMed gnomAD |
|
| rs1241719626 | 4089 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs2081972011 | 4091 | D>G | No | TOPMed | |
| rs771397126 | 4091 | D>H | No |
ExAC TOPMed gnomAD |
|
|
RCV001817212 rs1302027031 |
4092 | I>T | No |
ClinVar TOPMed dbSNP gnomAD |
|
|
COSM4014923 COSM4014922 |
4093 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs748863853 | 4094 | M>R | No |
ExAC TOPMed gnomAD |
|
| rs748863853 | 4094 | M>T | No |
ExAC TOPMed gnomAD |
|
| rs1589500265 | 4095 | A>E | No | Ensembl | |
| rs1589500162 | 4096 | I>M | No | Ensembl | |
| rs777534350 | 4096 | I>V | No |
ExAC gnomAD |
|
| rs1589500113 | 4097 | V>L | No | Ensembl | |
| rs866351607 | 4098 | A>V | No | Ensembl | |
| rs2081967857 | 4099 | D>H | No | TOPMed | |
| rs2081967857 | 4099 | D>N | No | TOPMed | |
| rs1452694020 | 4101 | L>V | No | gnomAD | |
| rs1362166059 | 4102 | G>A | No |
TOPMed gnomAD |
|
|
COSM919222 COSM919223 |
4104 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 4108 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1186236799 | 4108 | L>P | No | gnomAD | |
| rs1426299426 | 4108 | L>V | No | gnomAD | |
|
RCV000522608 rs1554852167 CA376994758 |
4109 | A>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM919220 COSM919221 |
4109 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1484522447 | 4115 | S>T | No | gnomAD | |
| rs1200543308 | 4116 | V>M | No | gnomAD | |
| rs1380380971 | 4117 | D>N | No | Ensembl | |
| rs780668883 | 4119 | I>V | No |
ExAC gnomAD |
|
| rs1226652904 | 4120 | N>S | No | gnomAD | |
| rs201207809 | 4121 | Q>H | No | Ensembl | |
| rs746915601 | 4123 | R>C | No |
ExAC TOPMed gnomAD |
|
|
RCV001093304 rs780088040 |
4123 | R>H | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs780088040 | 4123 | R>P | No |
ExAC TOPMed gnomAD |
|
| rs1279933673 | 4124 | V>L | No | gnomAD | |
| rs777789388 | 4127 | P>L | No |
ExAC TOPMed gnomAD |
|
| rs777789388 | 4127 | P>R | No |
ExAC TOPMed gnomAD |
|
| rs750259134 | 4127 | P>T | No |
ExAC TOPMed gnomAD |
|
| rs2081183381 | 4129 | S>P | No | TOPMed | |
|
COSM1348417 COSM1348416 |
4129 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2081183018 | 4132 | S>F | No | TOPMed | |
|
COSM3415140 COSM3415141 |
4132 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1025797163 | 4136 | M>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed gnomAD |
| rs1259632559 | 4137 | L>F | No | Ensembl | |
|
COSM919218 COSM919219 |
4137 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs756369515 | 4139 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs1240882994 | 4140 | K>N | No |
TOPMed gnomAD |
|
|
COSM1348414 COSM1348415 rs1466658148 |
4140 | K>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs2081180791 | 4140 | K>Q | No | Ensembl | |
|
COSM1348412 COSM1348413 |
4141 | W>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2081179583 | 4142 | V>I | No | Ensembl | |
| rs1589445727 | 4143 | T>N | No | TOPMed | |
| rs1589445727 | 4143 | T>S | No | TOPMed | |
| rs1804202087 | 4144 | R>K | No | TOPMed | |
|
COSM684806 COSM684805 |
4144 | R>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM193427 RCV000425702 COSM193428 CA5510895 rs184370155 |
4146 | G>R | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA dbSNP gnomAD |
| TCGA novel | 4148 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2081176811 | 4150 | T>R | No | TOPMed | |
| rs1249158964 | 4150 | T>S | No |
TOPMed gnomAD |
|
| rs1348812188 | 4152 | D>G | No | gnomAD | |
| rs2080956436 | 4153 | A>T | No |
TOPMed gnomAD |
|
| rs200085654 | 4155 | T>S | No |
ExAC TOPMed gnomAD |
|
| rs565298479 | 4156 | S>L | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs2080953125 | 4157 | V>I | No | Ensembl | |
| TCGA novel | 4159 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751694466 | 4159 | T>K | No |
ExAC TOPMed gnomAD |
|
|
COSM234199 COSM234200 |
4163 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1190496117 | 4163 | R>Q | No |
TOPMed gnomAD |
|
| rs758933057 | 4166 | I>T | No |
ExAC gnomAD |
|
| rs750959725 | 4167 | V>A | No |
ExAC TOPMed gnomAD |
|
| rs1380830734 | 4168 | T>A | No |
TOPMed gnomAD |
|
| rs765604672 | 4168 | T>R | No |
ExAC gnomAD |
|
| rs1157634919 | 4169 | L>V | No |
TOPMed gnomAD |
|
| rs1387606230 | 4173 | P>T | No | TOPMed | |
| rs1302662882 | 4174 | I>T | No |
TOPMed gnomAD |
|
|
CA5510869 rs199850352 RCV000432718 |
4174 | I>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| rs2080946375 | 4176 | D>G | No |
TOPMed gnomAD |
|
| rs1400784880 | 4177 | Y>C | No |
TOPMed gnomAD |
|
| rs1400784880 | 4177 | Y>F | No |
TOPMed gnomAD |
|
| rs1171190682 | 4180 | I>M | No | gnomAD | |
| rs2131943066 | 4181 | S>L | No | Ensembl | |
| rs763764475 | 4183 | T>A | No | ExAC | |
| rs1325712129 | 4183 | T>I | No |
TOPMed gnomAD |
|
|
COSM1474685 rs1477697252 COSM1474684 |
4184 | R>I | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
| rs760107760 | 4186 | F>S | No |
ExAC gnomAD |
|
| TCGA novel | 4186 | F>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1453065439 | 4187 | A>V | No |
TOPMed gnomAD |
|
|
COSM919217 COSM919216 |
4188 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs775077073 | 4188 | D>N | No |
ExAC gnomAD |
|
|
rs140440227 RCV001985277 |
4190 | N>S | No |
ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| rs140440227 | 4190 | N>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs1245107704 | 4191 | N>K | No | TOPMed | |
| rs370340773 | 4191 | N>S | No |
ESP ExAC gnomAD |
|
| rs367952969 | 4192 | V>D | No |
ESP TOPMed gnomAD |
|
| rs774206172 | 4194 | H>D | No |
ExAC gnomAD |
|
| rs551532480 | 4194 | H>R | No | Ensembl | |
|
COSM3867494 COSM3867493 |
4194 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs2080936647 | 4196 | P>L | No | Ensembl | |
| rs1352145764 | 4197 | V>I | No |
TOPMed gnomAD |
|
| rs760508821 | 4199 | G>D | No |
ExAC gnomAD |
|
| rs772776769 | 4200 | W>C | No | TOPMed | |
| rs1208275755 | 4203 | E>D | No |
TOPMed gnomAD |
|
| rs1484195605 | 4203 | E>G | No | gnomAD | |
| rs1256009201 | 4206 | S>C | No |
TOPMed gnomAD |
|
| rs1256009201 | 4206 | S>R | No |
TOPMed gnomAD |
|
| rs890820154 | 4207 | G>R | No | Ensembl | |
| rs201377828 | 4208 | N>Y | No | Ensembl | |
| rs2079891023 | 4209 | L>I | No | gnomAD | |
| rs2079890095 | 4210 | E>A | No |
TOPMed gnomAD |
|
| rs2079889140 | 4211 | S>F | No | TOPMed | |
| rs773156778 | 4212 | C>G | No |
ExAC gnomAD |
|
| rs769984346 | 4212 | C>Y | No |
ExAC gnomAD |
|
| rs375188855 | 4213 | A>T | No |
ESP ExAC TOPMed gnomAD |
|
| rs945841652 | 4214 | Q>P | No |
TOPMed gnomAD |
|
| rs747407117 | 4215 | A>T | No |
ExAC gnomAD |
|
| rs2079885185 | 4216 | R>G | No | TOPMed | |
| rs779784258 | 4216 | R>L | No |
ExAC TOPMed gnomAD |
|
| rs779784258 | 4216 | R>P | No |
ExAC TOPMed gnomAD |
|
|
rs779784258 COSM3439204 COSM3439205 |
4216 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
| rs758136513 | 4217 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs1456125649 | 4217 | R>T | No | gnomAD | |
| rs1164879127 | 4218 | V>I | No | gnomAD | |
|
rs745574366 CA5510767 RCV000439329 |
4219 | T>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs1376135271 | 4220 | G>A | No | TOPMed | |
| rs756828338 | 4223 | L>P | No |
ExAC gnomAD |
|
| rs753694698 | 4224 | D>E | No |
ExAC TOPMed gnomAD |
|
| rs1239851710 | 4224 | D>G | No | gnomAD | |
|
COSM3415137 COSM3415138 |
4225 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs769038211 | 4225 | R>L | No |
ExAC TOPMed gnomAD |
|
|
rs769038211 RCV001962132 |
4225 | R>Q | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
| rs755842197 | 4226 | L>P | No |
ExAC gnomAD |
|
|
COSM919212 COSM919213 |
4227 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1351655008 | 4228 | D>E | No | gnomAD | |
|
COSM427727 COSM427726 |
4228 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM919211 COSM919210 rs1356481812 |
4229 | S>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
| rs780934694 | 4230 | P>H | No |
ExAC gnomAD |
|
| rs750563582 | 4232 | Q>K | No |
ExAC gnomAD |
|
| rs368823652 | 4232 | Q>P | No |
ESP ExAC gnomAD |
|
| rs368823652 | 4232 | Q>R | No |
ESP ExAC gnomAD |
|
| rs764325997 | 4233 | C>F | No |
ExAC gnomAD |
|
| rs1358161814 | 4233 | C>G | No |
TOPMed gnomAD |
|
| rs1358161814 | 4233 | C>S | No |
TOPMed gnomAD |
|
| rs764325997 | 4233 | C>Y | No |
ExAC gnomAD |
|
| TCGA novel | 4235 | D>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM427725 COSM427724 |
4235 | D>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM919209 COSM919208 rs1419723600 |
4238 | T>A | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
| rs944249613 | 4238 | T>I | No |
TOPMed gnomAD |
|
| rs1419723600 | 4238 | T>P | No |
TOPMed gnomAD |
|
| TCGA novel | 4239 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs772538751 | 4240 | Y>H | No |
ExAC gnomAD |
|
| TCGA novel | 4241 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2079089013 | 4241 | L>V | No | TOPMed | |
| rs759965221 | 4242 | K>R | No |
ExAC TOPMed gnomAD |
|
| rs759965221 | 4242 | K>T | No |
ExAC TOPMed gnomAD |
|
| rs147941173 | 4243 | G>A | No |
ESP TOPMed gnomAD |
|
| rs147941173 | 4243 | G>E | No |
ESP TOPMed gnomAD |
|
| rs995936040 | 4247 | K>R | No |
TOPMed gnomAD |
|
| rs79971091 | 4250 | A>E | No | Ensembl | |
| rs1262670106 | 4251 | N>K | No | gnomAD | |
|
RCV000193741 rs797045231 CA207435 |
4251 | N>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| rs1448769107 | 4253 | S>G | No | gnomAD | |
| rs1199306074 | 4253 | S>R | No |
TOPMed gnomAD |
|
| rs1448769107 | 4253 | S>R | No | gnomAD | |
| rs1200435442 | 4254 | H>R | No | gnomAD | |
| rs2079083984 | 4254 | H>Y | No | gnomAD | |
| rs748955659 | 4255 | T>K | No |
ExAC gnomAD |
|
|
rs769573528 VAR_068704 |
4255 | T>P | found in a patient with autism; uncertain significance [UniProt] | No |
UniProt dbSNP gnomAD |
| rs748955659 | 4255 | T>R | No |
ExAC gnomAD |
|
| rs1337995614 | 4256 | E>K | No |
TOPMed gnomAD |
|
|
rs1425594215 RCV002018020 |
4256 | E>V | No |
ClinVar dbSNP |
|
|
RCV000116327 RCV000962012 rs12261793 VAR_054333 CA151774 |
4257 | I>V | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| rs200666755 | 4258 | T>P | No |
1000Genomes ExAC gnomAD |
|
|
rs1346507781 COSM4853938 COSM4853939 |
4260 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA gnomAD |
| rs748059914 | 4261 | A>G | No |
ExAC gnomAD |
|
| rs1331614626 | 4261 | A>T | No | gnomAD | |
| rs748059914 | 4261 | A>V | No |
ExAC gnomAD |
|
|
rs2079078019 RCV001093303 |
4263 | T>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 4263 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2079077651 | 4264 | K>E | No | Ensembl | |
| rs754730320 | 4265 | S>P | No |
ExAC gnomAD |
|
| TCGA novel | 4266 | Y>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs773627391 | 4266 | Y>C | No | Ensembl | |
| rs2131914281 | 4267 | F>L | No | Ensembl | |
| rs1589334091 | 4268 | P>L | No | TOPMed | |
| rs1174191821 | 4271 | Q>E | No | TOPMed | |
| rs74961590 | 4272 | N>K | No |
1000Genomes ExAC TOPMed gnomAD |
|
| rs746822793 | 4272 | N>S | No |
ExAC gnomAD |
|
| rs746822793 | 4272 | N>T | No |
ExAC gnomAD |
|
|
rs2131914217 RCV001919249 |
4273 | D>E | No |
ClinVar Ensembl dbSNP |
|
| rs2079074904 | 4274 | V>A | No | Ensembl | |
| rs1247023885 | 4275 | G>A | No | gnomAD | |
|
COSM1702499 COSM1702500 |
4275 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs780899852 | 4277 | Q>E | No |
ExAC TOPMed gnomAD |
|
| rs914801576 | 4279 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA TOPMed |
| rs753206170 | 4280 | K>E | No |
ExAC TOPMed gnomAD |
|
| rs1441017529 | 4281 | E>A | No | Ensembl | |
| rs1441017529 | 4281 | E>G | No | Ensembl | |
| rs2079071377 | 4283 | L>M | No |
TOPMed gnomAD |
|
| rs2079071029 | 4283 | L>P | No | Ensembl | |
| rs768167956 | 4285 | P>Q | No |
ExAC gnomAD |
|
| rs768167956 | 4285 | P>R | No |
ExAC gnomAD |
|
| rs1200692526 | 4285 | P>S | No |
TOPMed gnomAD |
|
| rs1197181984 | 4288 | H>P | No |
TOPMed gnomAD |
|
| rs1317740010 | 4288 | H>Q | No | gnomAD | |
| rs1197181984 | 4288 | H>R | No |
TOPMed gnomAD |
|
| rs1450131556 | 4288 | H>Y | No | gnomAD | |
| rs774766304 | 4290 | S>C | No |
ExAC gnomAD |
|
|
COSM4014921 COSM4014920 rs2079066732 |
4292 | H>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic Ensembl |
|
COSM919207 COSM919206 rs772904316 |
4293 | V>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
| rs772904316 | 4293 | V>L | No |
ExAC gnomAD |
|
| rs1446569409 | 4294 | E>K | No | gnomAD | |
| TCGA novel | 4295 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2079065196 | 4296 | P>A | No | TOPMed | |
| rs1341015413 | 4296 | P>R | No | gnomAD | |
| rs928744064 | 4299 | P>L | No |
TOPMed gnomAD |
|
| rs928744064 | 4299 | P>Q | No |
TOPMed gnomAD |
|
| rs928744064 | 4299 | P>R | No |
TOPMed gnomAD |
|
|
COSM3439203 COSM3439202 |
4299 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs12357325 | 4301 | A>S | No | Ensembl | |
| rs375976712 | 4305 | K>N | No |
ESP TOPMed gnomAD |
|
| TCGA novel | 4306 | S>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1268160326 | 4306 | S>C | No | TOPMed | |
|
COSM919204 COSM919205 |
4306 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs746973383 | 4306 | S>P | No |
ExAC gnomAD |
|
|
COSM1348409 COSM1348410 |
4306 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs981533760 | 4307 | L>P | No |
TOPMed gnomAD |
|
| rs779890823 | 4307 | L>V | No |
ExAC gnomAD |
|
| rs758163584 | 4308 | E>G | No |
ExAC TOPMed gnomAD |
|
| rs2079059316 | 4310 | T>I | No | Ensembl | |
| rs1172281478 | 4311 | S>N | No |
TOPMed gnomAD |
|
| rs1206976572 | 4311 | S>R | No |
TOPMed gnomAD |
|
| rs2079058055 | 4312 | K>Q | No | TOPMed | |
| rs1564654270 | 4313 | L>F | No | Ensembl | |
| rs749499038 | 4315 | I>L | No |
ExAC gnomAD |
|
| rs756221675 | 4315 | I>M | No |
ExAC gnomAD |
|
| rs778163385 | 4315 | I>T | No |
ExAC gnomAD |
|
|
COSM1182777 rs866933717 COSM1182778 |
4317 | E>D | large_intestine [Cosmic] | No |
cosmic curated Ensembl |
| rs1043669526 | 4317 | E>K | No | TOPMed | |
| rs536020200 | 4318 | T>N | No |
TOPMed gnomAD |
|
| rs536020200 | 4318 | T>S | No |
TOPMed gnomAD |
|
|
COSM4014919 COSM4014918 |
4319 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs752826387 | 4320 | P>A | No |
ExAC TOPMed gnomAD |
|
| rs752826387 | 4320 | P>S | No |
ExAC TOPMed gnomAD |
|
|
COSM465801 COSM465800 |
4321 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs947680074 | 4322 | V>A | No | TOPMed | |
| rs371742062 | 4323 | P>L | No |
ESP ExAC TOPMed gnomAD |
|
| rs1376057816 | 4323 | P>S | No |
TOPMed gnomAD |
|
| rs755506232 | 4324 | V>F | No |
ExAC TOPMed gnomAD |
|
| rs960481817 | 4325 | S>N | No | TOPMed | |
| rs1348389518 | 4325 | S>R | No | gnomAD | |
| rs1406145982 | 4326 | M>I | No | gnomAD | |
| rs367772169 | 4326 | M>V | No |
ESP ExAC TOPMed gnomAD |
|
|
COSM3790859 rs763252744 COSM3790858 |
4329 | M>I | Variant assessed as Somatic; MODERATE impact. urinary_tract [NCI-TCGA, Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD NCI-TCGA Cosmic NCI-TCGA |
| rs2079050417 | 4329 | M>T | No | TOPMed | |
| rs2079050770 | 4329 | M>V | No |
TOPMed gnomAD |
|
| rs147318982 | 4330 | S>I | No |
ESP ExAC TOPMed gnomAD |
|
| rs147318982 | 4330 | S>N | No |
ESP ExAC TOPMed gnomAD |
|
| rs201572537 | 4331 | R>G | No |
ExAC TOPMed gnomAD |
|
| rs2079048391 | 4331 | R>T | No | Ensembl | |
| rs768113947 | 4333 | S>F | No |
ExAC gnomAD |
|
|
COSM278820 COSM278819 |
4333 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1220438069 | 4334 | P>L | No | gnomAD | |
| rs1246460838 | 4334 | P>T | No |
TOPMed gnomAD |
|
| rs984601541 | 4335 | A>V | No | TOPMed | |
|
COSM3439200 COSM3439201 |
4336 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs1490408056 | 4338 | K>T | No |
TOPMed gnomAD |
|
| rs2079045511 | 4339 | P>L | No | TOPMed | |
|
COSM3439198 COSM3439199 |
4340 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs771850741 COSM3769146 COSM3769147 |
4342 | S>N | pancreas [Cosmic] | No |
cosmic curated ExAC TOPMed gnomAD |
| rs771850741 | 4342 | S>T | No |
ExAC TOPMed gnomAD |
|
| rs1240212357 | 4343 | L>F | No |
TOPMed gnomAD |
|
| rs2079042469 | 4344 | H>P | No | TOPMed | |
|
RCV001906714 rs748449445 |
4344 | H>Y | No |
ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
COSM3686802 COSM3686803 |
4346 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs149387337 | 4347 | E>D | No |
ESP ExAC TOPMed gnomAD |
|
| rs144675810 | 4347 | E>K | No |
ESP ExAC TOPMed gnomAD |
|
| rs1419123032 | 4348 | G>E | No | gnomAD | |
| rs375135544 | 4348 | G>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs138857513 | 4349 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ESP NCI-TCGA TOPMed gnomAD |
| rs138857513 | 4349 | S>T | No |
ESP TOPMed gnomAD |
|
| rs1431925018 | 4350 | S>G | No | gnomAD | |
| rs2079038632 | 4350 | S>T | No | Ensembl | |
|
COSM265585 COSM265584 |
4352 | S>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM3439197 COSM3439196 |
4355 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs867217601 | 4357 | G>E | No | Ensembl | |
| rs2076326058 | 4358 | E>K | No | TOPMed | |
| TCGA novel | 4359 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs2076325731 | 4360 | F>C | No | TOPMed | |
|
RCV001310924 rs2076325400 |
4361 | K>M | No |
ClinVar Ensembl dbSNP |
|
| rs747316209 | 4363 | K>N | No |
ExAC TOPMed gnomAD |
|
| rs1309115765 | 4364 | T>A | No | gnomAD | |
| rs1240354731 | 4364 | T>M | No |
TOPMed gnomAD |
|
| TCGA novel | 4364 | T>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| rs867387538 | 4367 | E>K | No | Ensembl | |
| TCGA novel | 4367 | E>N | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 4367 | E>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1299632040 | 4368 | I>F | No | gnomAD | |
| rs1468049332 | 4368 | I>T | No | gnomAD | |
|
COSM3439192 COSM3439193 rs556782173 |
4369 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| rs1320810793 | 4370 | H>Q | No |
TOPMed gnomAD |
|
| rs141713197 | 4370 | H>R | No |
ESP ExAC TOPMed gnomAD |
|
| rs955263663 | 4371 | V>M | No |
TOPMed gnomAD |
|
| rs2076317043 | 4374 | K>N | No | Ensembl | |
| rs2076316341 | 4375 | S>N | No | Ensembl | |
| rs1470464097 | 4376 | H>Y | No | gnomAD | |
| rs749617847 | 4377 | S>A | No |
ExAC gnomAD |
2 associated diseases with Q12955
[MIM: 615493]: Intellectual developmental disorder, autosomal recessive 37 (MRT37)
A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT37 patients manifest delayed global development with speech delay, hypotonia, spasticity, and a sleep disorder. Severe behavioral abnormalities include aggression, hyperactivity, and grinding of the teeth. Note=The disease is caused by variants affecting the gene represented in this entry. A homozygous deletion in ANK3 predicted to result in frameshift and premature truncation, has been shown to be the cause of moderate intellectual disability, an ADHD-like phenotype and behavioral problems in a consanguineous family (PubMed:23390136). .
Without disease ID
- A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRT37 patients manifest delayed global development with speech delay, hypotonia, spasticity, and a sleep disorder. Severe behavioral abnormalities include aggression, hyperactivity, and grinding of the teeth. Note=The disease is caused by variants affecting the gene represented in this entry. A homozygous deletion in ANK3 predicted to result in frameshift and premature truncation, has been shown to be the cause of moderate intellectual disability, an ADHD-like phenotype and behavioral problems in a consanguineous family (PubMed:23390136). .
17 regional properties for Q12955
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Death domain | 4080 - 4174 | IPR000488 |
| domain | ZU5 domain | 982 - 1139 | IPR000906-1 |
| domain | ZU5 domain | 1141 - 1288 | IPR000906-2 |
| repeat | Ankyrin repeat | 47 - 138 | IPR002110-1 |
| repeat | Ankyrin repeat | 139 - 171 | IPR002110-2 |
| repeat | Ankyrin repeat | 172 - 200 | IPR002110-3 |
| repeat | Ankyrin repeat | 201 - 266 | IPR002110-4 |
| repeat | Ankyrin repeat | 264 - 332 | IPR002110-5 |
| repeat | Ankyrin repeat | 330 - 398 | IPR002110-6 |
| repeat | Ankyrin repeat | 399 - 464 | IPR002110-7 |
| repeat | Ankyrin repeat | 465 - 497 | IPR002110-8 |
| repeat | Ankyrin repeat | 498 - 596 | IPR002110-9 |
| repeat | Ankyrin repeat | 596 - 662 | IPR002110-10 |
| repeat | Ankyrin repeat | 663 - 761 | IPR002110-11 |
| repeat | Ankyrin repeat | 762 - 794 | IPR002110-12 |
| domain | Ankyrin-3, death domain | 4088 - 4171 | IPR037971 |
| domain | Ankyrin, UPA domain | 1308 - 1437 | IPR040745 |
Functions
22 GO annotations of cellular component
| Name | Definition |
|---|---|
| axon initial segment | Portion of the axon proximal to the neuronal cell body, at the level of the axon hillock. The action potentials that propagate along the axon are generated at the level of this initial segment. |
| basal plasma membrane | The region of the plasma membrane located at the basal end of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| costamere | Regular periodic sub membranous arrays of vinculin in skeletal and cardiac muscle cells, these arrays link Z-discs to the sarcolemma and are associated with links to extracellular matrix. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| dendrite | A neuron projection that has a short, tapering, morphology. Dendrites receive and integrate signals from other neurons or from sensory stimuli, and conduct nerve impulses towards the axon or the cell body. In most neurons, the impulse is conveyed from dendrites to axon via the cell body, but in some types of unipolar neuron, the impulse does not travel via the cell body. |
| endoplasmic reticulum | The irregular network of unit membranes, visible only by electron microscopy, that occurs in the cytoplasm of many eukaryotic cells. The membranes form a complex meshwork of tubular channels, which are often expanded into slitlike cavities called cisternae. The ER takes two forms, rough (or granular), with ribosomes adhering to the outer surface, and smooth (with no ribosomes attached). |
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| intercalated disc | A complex cell-cell junction at which myofibrils terminate in cardiomyocytes; mediates mechanical and electrochemical integration between individual cardiomyocytes. The intercalated disc contains regions of tight mechanical attachment (fasciae adherentes and desmosomes) and electrical coupling (gap junctions) between adjacent cells. |
| lateral plasma membrane | The portion of the plasma membrane at the lateral side of the cell. In epithelial cells, lateral plasma membranes are on the sides of cells which lie at the interface of adjacent cells. |
| lysosome | A small lytic vacuole that has cell cycle-independent morphology found in most animal cells and that contains a variety of hydrolases, most of which have their maximal activities in the pH range 5-6. The contained enzymes display latency if properly isolated. About 40 different lysosomal hydrolases are known and lysosomes have a great variety of morphologies and functions. |
| neuromuscular junction | The junction between the axon of a motor neuron and a muscle fiber. In response to the arrival of action potentials, the presynaptic button releases molecules of neurotransmitters into the synaptic cleft. These diffuse across the cleft and transmit the signal to the postsynaptic membrane of the muscle fiber, leading to a change in post-synaptic potential. |
| neuron projection | A prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| node of Ranvier | An axon part that is a gap in the myelin where voltage-gated sodium channels cluster and saltatory conduction is executed. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| postsynaptic membrane | A specialized area of membrane facing the presynaptic membrane on the tip of the nerve ending and separated from it by a minute cleft (the synaptic cleft). Neurotransmitters cross the synaptic cleft and transmit the signal to the postsynaptic membrane. |
| sarcolemma | The outer membrane of a muscle cell, consisting of the plasma membrane, a covering basement membrane (about 100 nm thick and sometimes common to more than one fiber), and the associated loose network of collagen fibers. |
| sarcoplasmic reticulum | A fine reticular network of membrane-limited elements that pervades the sarcoplasm of a muscle cell; continuous over large portions of the cell and with the nuclear envelope; that part of the endoplasmic reticulum specialized for calcium release, uptake and storage. |
| spectrin-associated cytoskeleton | The part of the cytoskeleton composed of spectrin, protein 4.1 and ankyrin. Spectrin-associated cytoskeleton is associated with the plasma membrane. |
| T-tubule | Invagination of the plasma membrane of a muscle cell that extends inward from the cell surface around each myofibril. The ends of T-tubules make contact with the sarcoplasmic reticulum membrane. |
| Z disc | Platelike region of a muscle sarcomere to which the plus ends of actin filaments are attached. |
7 GO annotations of molecular function
| Name | Definition |
|---|---|
| cadherin binding | Binding to cadherin, a type I membrane protein involved in cell adhesion. |
| cytoskeletal anchor activity | The binding activity of a protein that brings together a cytoskeletal protein (either a microtubule or actin filament, spindle pole body, or protein directly bound to them) and one or more other molecules, permitting them to function in a coordinated way. |
| cytoskeletal protein binding | Binding to a protein component of a cytoskeleton (actin, microtubule, or intermediate filament cytoskeleton). |
| protein-macromolecule adaptor activity | The binding activity of a protein that brings together two or more macromolecules in contact, permitting those molecules to function in a coordinated way. The adaptor can bring together two proteins, or a protein and another macromolecule such as a lipid or a nucleic acid. |
| spectrin binding | Binding to spectrin, a protein that is the major constituent of the erythrocyte cytoskeletal network. It associates with band 4.1 (see band protein) and actin to form the cytoskeletal superstructure of the erythrocyte plasma membrane. It is composed of nonhomologous chains, alpha and beta, which aggregate side-to-side in an antiparallel fashion to form dimers, tetramers, and higher polymers. |
| structural constituent of cytoskeleton | The action of a molecule that contributes to the structural integrity of a cytoskeletal structure. |
| transmembrane transporter binding | Binding to a transmembrane transporter, a protein or protein complex that enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
25 GO annotations of biological process
| Name | Definition |
|---|---|
| axonogenesis | De novo generation of a long process of a neuron, including the terminal branched region. Refers to the morphogenesis or creation of shape or form of the developing axon, which carries efferent (outgoing) action potentials from the cell body towards target cells. |
| cellular response to magnesium ion | Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a magnesium ion stimulus. |
| establishment of protein localization | The directed movement of a protein to a specific location. |
| Golgi to plasma membrane protein transport | The directed movement of proteins from the Golgi to the plasma membrane in transport vesicles that move from the trans-Golgi network to the plasma membrane. |
| magnesium ion homeostasis | Any process involved in the maintenance of an internal steady state of magnesium ions within an organism or cell. |
| maintenance of protein location in plasma membrane | Any process in which a protein is maintained in a specific location in the plasma membrane, and is prevented from moving elsewhere. |
| membrane assembly | The aggregation, arrangement and bonding together of a set of components to form a membrane. |
| mitotic cytokinesis | A cell cycle process that results in the division of the cytoplasm of a cell after mitosis, resulting in the separation of the original cell into two daughter cells. |
| negative regulation of delayed rectifier potassium channel activity | Any process that stops, prevents or reduces the frequency, rate or extent of delayed rectifier potassium channel activity. |
| neuromuscular junction development | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of a neuromuscular junction. |
| neuronal action potential | An action potential that occurs in a neuron. |
| plasma membrane organization | A process that is carried out at the cellular level which results in the assembly, arrangement of constituent parts, or disassembly of the plasma membrane. |
| positive regulation of cation channel activity | Any process that activates or increases the frequency, rate or extent of cation channel activity. |
| positive regulation of cell communication by electrical coupling | Any process that increases the frequency, rate or extent of cell communication via electrical coupling. Cell communication via electrical coupling is the process that mediates signaling interactions between one cell and another cell by transfer of current between their adjacent cytoplasms via intercellular protein channels. |
| positive regulation of gene expression | Any process that increases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| positive regulation of homotypic cell-cell adhesion | Any process that activates or increases the frequency, rate, or extent of homotypic cell-cell adhesion. |
| positive regulation of membrane depolarization during cardiac muscle cell action potential | Any process that activates or increases the frequency, rate or extent of membrane depolarization during a cardiac muscle cell action potential. |
| positive regulation of membrane potential | Any process that activates or increases the frequency, rate or extent of establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| positive regulation of protein targeting to membrane | Any process that increases the frequency, rate or extent of the process of directing proteins towards a membrane, usually using signals contained within the protein. |
| positive regulation of sodium ion transmembrane transporter activity | Any process that activates or increases the frequency, rate or extent of sodium ion transmembrane transporter activity. |
| positive regulation of sodium ion transport | Any process that increases the frequency, rate or extent of the directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| protein localization to axon | A process in which a protein is transported to or maintained in a location within an axon. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| regulation of potassium ion transport | Any process that modulates the frequency, rate or extent of the directed movement of potassium ions (K+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| signal transduction | The cellular process in which a signal is conveyed to trigger a change in the activity or state of a cell. Signal transduction begins with reception of a signal (e.g. a ligand binding to a receptor or receptor activation by a stimulus such as light), or for signal transduction in the absence of ligand, signal-withdrawal or the activity of a constitutively active receptor. Signal transduction ends with regulation of a downstream cellular process, e.g. regulation of transcription or regulation of a metabolic process. Signal transduction covers signaling from receptors located on the surface of the cell and signaling via molecules located within the cell. For signaling between cells, signal transduction is restricted to events at and within the receiving cell. |
12 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| F1N6G5 | HACE1 | E3 ubiquitin-protein ligase HACE1 | Bos taurus (Bovine) | SS |
| E1C656 | HACE1 | E3 ubiquitin-protein ligase HACE1 | Gallus gallus (Chicken) | SS |
| Q8IYU2 | HACE1 | E3 ubiquitin-protein ligase HACE1 | Homo sapiens (Human) | EV |
| P16157 | ANK1 | Ankyrin-1 | Homo sapiens (Human) | EV |
| Q01484 | ANK2 | Ankyrin-2 | Homo sapiens (Human) | EV |
| Q3U0D9 | Hace1 | E3 ubiquitin-protein ligase HACE1 | Mus musculus (Mouse) | SS |
| Q02357 | Ank1 | Ankyrin-1 | Mus musculus (Mouse) | SS |
| Q8C8R3 | Ank2 | Ankyrin-2 | Mus musculus (Mouse) | SS |
| D3ZBM7 | Hace1 | E3 ubiquitin-protein ligase HACE1 | Rattus norvegicus (Rat) | SS |
| O70511 | Ank3 | Ankyrin-3 | Rattus norvegicus (Rat) | EV |
| Q28BK1 | hace1 | E3 ubiquitin-protein ligase HACE1 | Xenopus tropicalis (Western clawed frog) (Silurana tropicalis) | SS |
| F8W2M1 | hace1 | E3 ubiquitin-protein ligase HACE1 | Danio rerio (Zebrafish) (Brachydanio rerio) | SS |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAHAASQLKK | NRDLEINAEE | EPEKKRKHRK | RSRDRKKKSD | ANASYLRAAR | AGHLEKALDY |
| 70 | 80 | 90 | 100 | 110 | 120 |
| IKNGVDINIC | NQNGLNALHL | ASKEGHVEVV | SELLQREANV | DAATKKGNTA | LHIASLAGQA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| EVVKVLVTNG | ANVNAQSQNG | FTPLYMAAQE | NHLEVVKFLL | DNGASQSLAT | EDGFTPLAVA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| LQQGHDQVVS | LLLENDTKGK | VRLPALHIAA | RKDDTKAAAL | LLQNDNNADV | ESKSGFTPLH |
| 250 | 260 | 270 | 280 | 290 | 300 |
| IAAHYGNINV | ATLLLNRAAA | VDFTARNDIT | PLHVASKRGN | ANMVKLLLDR | GAKIDAKTRD |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GLTPLHCGAR | SGHEQVVEML | LDRAAPILSK | TKNGLSPLHM | ATQGDHLNCV | QLLLQHNVPV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| DDVTNDYLTA | LHVAAHCGHY | KVAKVLLDKK | ANPNAKALNG | FTPLHIACKK | NRIKVMELLL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| KHGASIQAVT | ESGLTPIHVA | AFMGHVNIVS | QLMHHGASPN | TTNVRGETAL | HMAARSGQAE |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VVRYLVQDGA | QVEAKAKDDQ | TPLHISARLG | KADIVQQLLQ | QGASPNAATT | SGYTPLHLSA |
| 550 | 560 | 570 | 580 | 590 | 600 |
| REGHEDVAAF | LLDHGASLSI | TTKKGFTPLH | VAAKYGKLEV | ANLLLQKSAS | PDAAGKSGLT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PLHVAAHYDN | QKVALLLLDQ | GASPHAAAKN | GYTPLHIAAK | KNQMDIATTL | LEYGADANAV |
| 670 | 680 | 690 | 700 | 710 | 720 |
| TRQGIASVHL | AAQEGHVDMV | SLLLGRNANV | NLSNKSGLTP | LHLAAQEDRV | NVAEVLVNQG |
| 730 | 740 | 750 | 760 | 770 | 780 |
| AHVDAQTKMG | YTPLHVGCHY | GNIKIVNFLL | QHSAKVNAKT | KNGYTPLHQA | AQQGHTHIIN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| VLLQNNASPN | ELTVNGNTAL | GIARRLGYIS | VVDTLKIVTE | ETMTTTTVTE | KHKMNVPETM |
| 850 | 860 | 870 | 880 | 890 | 900 |
| NEVLDMSDDE | VRKANAPEML | SDGEYISDVE | EGEDAMTGDT | DKYLGPQDLK | ELGDDSLPAE |
| 910 | 920 | 930 | 940 | 950 | 960 |
| GYMGFSLGAR | SASLRSFSSD | RSYTLNRSSY | ARDSMMIEEL | LVPSKEQHLT | FTREFDSDSL |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| RHYSWAADTL | DNVNLVSSPI | HSGFLVSFMV | DARGGSMRGS | RHHGMRIIIP | PRKCTAPTRI |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| TCRLVKRHKL | ANPPPMVEGE | GLASRLVEMG | PAGAQFLGPV | IVEIPHFGSM | RGKERELIVL |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| RSENGETWKE | HQFDSKNEDL | TELLNGMDEE | LDSPEELGKK | RICRIITKDF | PQYFAVVSRI |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| KQESNQIGPE | GGILSSTTVP | LVQASFPEGA | LTKRIRVGLQ | AQPVPDEIVK | KILGNKATFS |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| PIVTVEPRRR | KFHKPITMTI | PVPPPSGEGV | SNGYKGDTTP | NLRLLCSITG | GTSPAQWEDI |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| TGTTPLTFIK | DCVSFTTNVS | ARFWLADCHQ | VLETVGLATQ | LYRELICVPY | MAKFVVFAKM |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| NDPVESSLRC | FCMTDDKVDK | TLEQQENFEE | VARSKDIEVL | EGKPIYVDCY | GNLAPLTKGG |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| QQLVFNFYSF | KENRLPFSIK | IRDTSQEPCG | RLSFLKEPKT | TKGLPQTAVC | NLNITLPAHK |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| KETESDQDDE | IEKTDRRQSF | ASLALRKRYS | YLTEPGMIER | STGATRSLPT | TYSYKPFFST |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| RPYQSWTTAP | ITVPGPAKSG | FTSLSSSSSN | TPSASPLKSI | WSVSTPSPIK | STLGASTTSS |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| VKSISDVASP | IRSFRTMSSP | IKTVVSQSPY | NIQVSSGTLA | RAPAVTEATP | LKGLASNSTF |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| SSRTSPVTTA | GSLLERSSIT | MTPPASPKSN | INMYSSSLPF | KSIITSAAPL | ISSPLKSVVS |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| PVKSAVDVIS | SAKITMASSL | SSPVKQMPGH | AEVALVNGSI | SPLKYPSSST | LINGCKATAT |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| LQEKISSATN | SVSSVVSAAT | DTVEKVFSTT | TAMPFSPLRS | YVSAAPSAFQ | SLRTPSASAL |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| YTSLGSSISA | TTSSVTSSII | TVPVYSVVNV | LPEPALKKLP | DSNSFTKSAA | ALLSPIKTLT |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| TETHPQPHFS | RTSSPVKSSL | FLAPSALKLS | TPSSLSSSQE | ILKDVAEMKE | DLMRMTAILQ |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| TDVPEEKPFQ | PELPKEGRID | DEEPFKIVEK | VKEDLVKVSE | ILKKDVCVDN | KGSPKSPKSD |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| KGHSPEDDWI | EFSSEEIREA | RQQAAASQSP | SLPERVQVKA | KAASEKDYNL | TKVIDYLTND |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| IGSSSLTNLK | YKFEDAKKDG | EERQKRVLKP | AIALQEHKLK | MPPASMRTST | SEKELCKMAD |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| SFFGTDTILE | SPDDFSQHDQ | DKSPLSDSGF | ETRSEKTPSA | PQSAESTGPK | PLFHEVPIPP |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| VITETRTEVV | HVIRSYDPSA | GDVPQTQPEE | PVSPKPSPTF | MELEPKPTTS | SIKEKVKAFQ |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| MKASSEEDDH | NRVLSKGMRV | KEETHITTTT | RMVYHSPPGG | EGASERIEET | MSVHDIMKAF |
| 2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
| QSGRDPSKEL | AGLFEHKSAV | SPDVHKSAAE | TSAQHAEKDN | QMKPKLERII | EVHIEKGNQA |
| 2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
| EPTEVIIRET | KKHPEKEMYV | YQKDLSRGDI | NLKDFLPEKH | DAFPCSEEQG | QQEEEELTAE |
| 2410 | 2420 | 2430 | 2440 | 2450 | 2460 |
| ESLPSYLESS | RVNTPVSQEE | DSRPSSAQLI | SDDSYKTLKL | LSQHSIEYHD | DELSELRGES |
| 2470 | 2480 | 2490 | 2500 | 2510 | 2520 |
| YRFAEKMLLS | EKLDVSHSDT | EESVTDHAGP | PSSELQGSDK | RSREKIATAP | KKEILSKIYK |
| 2530 | 2540 | 2550 | 2560 | 2570 | 2580 |
| DVSENGVGKV | SKDEHFDKVT | VLHYSGNVSS | PKHAMWMRFT | EDRLDRGREK | LIYEDRVDRT |
| 2590 | 2600 | 2610 | 2620 | 2630 | 2640 |
| VKEAEEKLTE | VSQFFRDKTE | KLNDELQSPE | KKARPKNGKE | YSSQSPTSSS | PEKVLLTELL |
| 2650 | 2660 | 2670 | 2680 | 2690 | 2700 |
| ASNDEWVKAR | QHGPDGQGFP | KAEEKAPSLP | SSPEKMVLSQ | QTEDSKSTVE | AKGSISQSKA |
| 2710 | 2720 | 2730 | 2740 | 2750 | 2760 |
| PDGPQSGFQL | KQSKLSSIRL | KFEQGTHAKS | KDMSQEDRKS | DGQSRIPVKK | IQESKLPVYQ |
| 2770 | 2780 | 2790 | 2800 | 2810 | 2820 |
| VFAREKQQKA | IDLPDESVSV | QKDFMVLKTK | DEHAQSNEIV | VNDSGSDNVK | KQRTEMSSKA |
| 2830 | 2840 | 2850 | 2860 | 2870 | 2880 |
| MPDSFSEQQA | KDLACHITSD | LATRGPWDKK | VFRTWESSGA | TNNKSQKEKL | SHVLVHDVRE |
| 2890 | 2900 | 2910 | 2920 | 2930 | 2940 |
| NHIGHPESKS | VDQKNEFMSV | TERERKLLTN | GSLSEIKEMT | VKSPSKKVLY | REYVVKEGDH |
| 2950 | 2960 | 2970 | 2980 | 2990 | 3000 |
| PGGLLDQPSR | RSESSAVSHI | PVRVADERRM | LSSNIPDGFC | EQSAFPKHEL | SQKLSQSSMS |
| 3010 | 3020 | 3030 | 3040 | 3050 | 3060 |
| KETVETQHFN | SIEDEKVTYS | EISKVSKHQS | YVGLCPPLEE | TETSPTKSPD | SLEFSPGKES |
| 3070 | 3080 | 3090 | 3100 | 3110 | 3120 |
| PSSDVFDHSP | IDGLEKLAPL | AQTEGGKEIK | TLPVYVSFVQ | VGKQYEKEIQ | QGGVKKIISQ |
| 3130 | 3140 | 3150 | 3160 | 3170 | 3180 |
| ECKTVQETRG | TFYTTRQQKQ | PPSPQGSPED | DTLEQVSFLD | SSGKSPLTPE | TPSSEEVSYE |
| 3190 | 3200 | 3210 | 3220 | 3230 | 3240 |
| FTSKTPDSLI | AYIPGKPSPI | PEVSEESEEE | EQAKSTSLKQ | TTVEETAVER | EMPNDVSKDS |
| 3250 | 3260 | 3270 | 3280 | 3290 | 3300 |
| NQRPKNNRVA | YIEFPPPPPL | DADQIESDKK | HHYLPEKEVD | MIEVNLQDEH | DKYQLAEPVI |
| 3310 | 3320 | 3330 | 3340 | 3350 | 3360 |
| RVQPPSPVPP | GADVSDSSDD | ESIYQPVPVK | KYTFKLKEVD | DEQKEKPKAS | AEKASNQKEL |
| 3370 | 3380 | 3390 | 3400 | 3410 | 3420 |
| ESNGSGKDNE | FGLGLDSPQN | EIAQNGNNDQ | SITECSIATT | AEFSHDTDAT | EIDSLDGYDL |
| 3430 | 3440 | 3450 | 3460 | 3470 | 3480 |
| QDEDDGLTES | DSKLPIQAME | IKKDIWNTEG | ILKPADRSFS | QSKLEVIEEE | GKVGPDEDKP |
| 3490 | 3500 | 3510 | 3520 | 3530 | 3540 |
| PSKSSSSEKT | PDKTDQKSGA | QFFTLEGRHP | DRSVFPDTYF | SYKVDEEFAT | PFKTVATKGL |
| 3550 | 3560 | 3570 | 3580 | 3590 | 3600 |
| DFDPWSNNRG | DDEVFDSKSR | EDETKPFGLA | VEDRSPATTP | DTTPARTPTD | ESTPTSEPNP |
| 3610 | 3620 | 3630 | 3640 | 3650 | 3660 |
| FPFHEGKMFE | MTRSGAIDMS | KRDFVEERLQ | FFQIGEHTSE | GKSGDQGEGD | KSMVTATPQP |
| 3670 | 3680 | 3690 | 3700 | 3710 | 3720 |
| QSGDTTVETN | LERNVETPTV | EPNPSIPTSG | ECQEGTSSSG | SLEKSAAATN | TSKVDPKLRT |
| 3730 | 3740 | 3750 | 3760 | 3770 | 3780 |
| PIKMGISAST | MTMKKEGPGE | ITDKIEAVMT | SCQGLENETI | TMISNTANSQ | MGVRPHEKHD |
| 3790 | 3800 | 3810 | 3820 | 3830 | 3840 |
| FQKDNFNNNN | NLDSSTIQTD | NIMSNIVLTE | HSAPTCTTEK | DNPVKVSSGK | KTGVLQGHCV |
| 3850 | 3860 | 3870 | 3880 | 3890 | 3900 |
| RDKQKVLGEQ | QKTKELIGIR | QKSKLPIKAT | SPKDTFPPNH | MSNTKASKMK | QVSQSEKTKA |
| 3910 | 3920 | 3930 | 3940 | 3950 | 3960 |
| LTTSSCVDVK | SRIPVKNTHR | DNIIAVRKAC | ATQKQGQPEK | GKAKQLPSKL | PVKVRSTCVT |
| 3970 | 3980 | 3990 | 4000 | 4010 | 4020 |
| TTTTTATTTT | TTTTTTTTSC | TVKVRKSQLK | EVCKHSIEYF | KGISGETLKL | VDRLSEEEKK |
| 4030 | 4040 | 4050 | 4060 | 4070 | 4080 |
| MQSELSDEEE | STSRNTSLSE | TSRGGQPSVT | TKSARDKKTE | AAPLKSKSEK | AGSEKRSSRR |
| 4090 | 4100 | 4110 | 4120 | 4130 | 4140 |
| TGPQSPCERT | DIRMAIVADH | LGLSWTELAR | ELNFSVDEIN | QIRVENPNSL | ISQSFMLLKK |
| 4150 | 4160 | 4170 | 4180 | 4190 | 4200 |
| WVTRDGKNAT | TDALTSVLTK | INRIDIVTLL | EGPIFDYGNI | SGTRSFADEN | NVFHDPVDGW |
| 4210 | 4220 | 4230 | 4240 | 4250 | 4260 |
| QNETSSGNLE | SCAQARRVTG | GLLDRLDDSP | DQCRDSITSY | LKGEAGKFEA | NGSHTEITPE |
| 4270 | 4280 | 4290 | 4300 | 4310 | 4320 |
| AKTKSYFPES | QNDVGKQSTK | ETLKPKIHGS | GHVEEPASPL | AAYQKSLEET | SKLIIEETKP |
| 4330 | 4340 | 4350 | 4360 | 4370 | |
| CVPVSMKKMS | RTSPADGKPR | LSLHEEEGSS | GSEQKQGEGF | KVKTKKEIRH | VEKKSHS |