P04275
EV
Gene name |
VWF (F8VWF) |
Protein name |
von Willebrand factor [Cleaved into: von Willebrand antigen 2 ] |
Names |
vWF, von Willebrand antigen II |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:7450 |
EC number |
|
Protein Class |
EXTRACELLULAR MATRIX GLYCOPROTEIN RELATED (PTHR11339) |
Descriptions
Von Willebrand Factor (VWF) is a giant extracellular protein playing a key role in blood clotting. Activated by shear-stress, VWF crosslinks the endothelial extracellular matrix with blood platelets at the site of vascular injury. Functional VWF is a linear multimer of tens of covalently linked monomers, extending up to 15 mm. Autoinhibition of VWF is mediated by the A1-A2 domain-domain interaction. The VWF A2 domain targets and blocks specific regions of the VWF A1 domain that correspond to the binding site of the platelet glycoprotein Iba (GPIba) receptor. A stretching force unblocks the GPIba binding site by dissociating the A1A2 complex. Also, the autoinhibitory modules (AIMs) flanking the VWF-A1 domain contribute to autoinhibition of the VWF. The N-terminal AIM cooperates with the C-terminal AIM to form a joint Rotini-like structure, partially autoinhibiting the VWF-A1-GPIba interaction.
Autoinhibitory domains (AIDs)
Target domain |
1275-1458 (A1 domain) |
Relief mechanism |
Others |
Assay |
Deletion assay, Structural analysis |
Target domain |
1275-1458 (A1 domain) |
Relief mechanism |
Others |
Assay |
Structural analysis |
Target domain |
1275-1458 (A1 domain) |
Relief mechanism |
Others |
Assay |
Deletion assay, Structural analysis |
Accessory elements
No accessory elements
References
- Zhao YC et al. (2022) "The N-terminal autoinhibitory module of the A1 domain in von Willebrand factor stabilizes the mechanosensor catch bond", RSC chemical biology, 3, 707-720
- Aponte-Santamaría C et al. (2015) "Force-sensitive autoinhibition of the von Willebrand factor is mediated by interdomain interactions", Biophysical journal, 108, 2312-21
- Legan ER et al. (2023) "Type 2B von Willebrand disease mutations differentially perturb autoinhibition of the A1 domain", Blood, 141, 1221-1232
- Legan ER et al. (2023) "Type 2B von Willebrand disease mutations differentially perturb autoinhibition of the A1 domain", Blood, 141, 1221-1232
- Emsley J et al. (1998) "Crystal structure of the von Willebrand Factor A1 domain and implications for the binding of platelet glycoprotein Ib", The Journal of biological chemistry, 273, 10396-401
Autoinhibited structure
Activated structure
40 structures for P04275
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 1AO3 | X-ray | 220 A | A/B | 1686-1872 | PDB |
| 1ATZ | X-ray | 180 A | A/B | 1685-1873 | PDB |
| 1AUQ | X-ray | 230 A | A | 1261-1468 | PDB |
| 1FE8 | X-ray | 203 A | A/B/C | 1683-1874 | PDB |
| 1FNS | X-ray | 200 A | A | 1271-1465 | PDB |
| 1IJB | X-ray | 180 A | A | 1263-1464 | PDB |
| 1IJK | X-ray | 260 A | A | 1263-1464 | PDB |
| 1M10 | X-ray | 310 A | A | 1261-1468 | PDB |
| 1OAK | X-ray | 220 A | A | 1271-1465 | PDB |
| 1SQ0 | X-ray | 260 A | A | 1259-1471 | PDB |
| 1U0N | X-ray | 295 A | A | 1261-1468 | PDB |
| 1UEX | X-ray | 285 A | C | 1260-1468 | PDB |
| 2ADF | X-ray | 190 A | A | 1683-1874 | PDB |
| 2MHP | NMR | - | A | 766-864 | PDB |
| 2MHQ | NMR | - | A | 766-864 | PDB |
| 3GXB | X-ray | 190 A | A/B | 1495-1671 | PDB |
| 3HXO | X-ray | 240 A | A | 1260-1468 | PDB |
| 3HXQ | X-ray | 269 A | A | 1260-1468 | PDB |
| 3PPV | X-ray | 190 A | A | 1488-1674 | PDB |
| 3PPW | X-ray | 190 A | A | 1488-1674 | PDB |
| 3PPX | X-ray | 191 A | A | 1488-1674 | PDB |
| 3PPY | X-ray | 200 A | A | 1488-1674 | PDB |
| 3ZQK | X-ray | 170 A | A/B/C | 1478-1674 | PDB |
| 4C29 | X-ray | 220 A | A/B | 1264-1471 | PDB |
| 4C2A | X-ray | 208 A | A | 1264-1471 | PDB |
| 4C2B | X-ray | 280 A | A/C/E/G | 1264-1471 | PDB |
| 4DMU | X-ray | 280 A | B/D/F/H/J/L | 1683-1874 | PDB |
| 4NT5 | X-ray | 328 A | A | 2721-2813 | PDB |
| 5BV8 | X-ray | 159 A | A | 1238-1471 | PDB |
| 6FWN | NMR | - | A | 2497-2577 | PDB |
| 6N29 | X-ray | 250 A | A/B | 764-1244 | PDB |
| 7EOW | X-ray | 160 A | A | 1261-1468 | PDB |
| 7F49 | X-ray | 209 A | A | 1259-1468 | PDB |
| 7KWO | EM | 290 A | V | 1-1256 | PDB |
| 7P4N | NMR | - | A | 2647-2720 | PDB |
| 7PMV | EM | 370 A | A/B/D/E | 1-1241 | PDB |
| 7PNF | EM | 435 A | B/D | 1-1241 | PDB |
| 7ZWH | EM | 320 A | PDB | ||
| 8D3C | EM | 310 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P | 1-1464 | PDB |
| 8D3D | EM | 320 A | A/B/C/D/E/F/G/H/I/J/K/L/M/N/O/P | 1-1464 | PDB |
2853 variants for P04275
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000851810 rs751286556 |
17 | L>missing | von Willebrand disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002264667 rs61753983 RCV000086844 CA228729 |
19 | G>R | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA228255 RCV000086554 rs61753984 RCV001787039 COSM431632 COSM3675510 |
34 | R>* | Variant assessed as Somatic; HIGH impact. von Willebrand disease type 3 breast [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1306914162 CA383507786 RCV000852058 |
61 | L>P | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA6403851 RCV000520820 RCV000346508 rs372664002 |
84 | L>F | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000086630 rs61753988 RCV001787050 |
92 | F>missing | von Willebrand disease type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002466428 RCV000086629 rs61753988 |
93 | D>* | von Willebrand disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA232363434 RCV001284260 rs374854636 RCV002537931 |
113 | Y>C | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
RCV002272194 RCV002244012 CA6403810 rs76505074 RCV000246724 RCV000382333 |
131 | G>S | von Willebrand disorder von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs61753992 CA228557 RCV000086743 RCV000852120 RCV002264661 |
141 | D>N | von Willebrand disorder von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1591924311 CA383518460 RCV001284373 RCV000851790 |
145 | N>K | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA228603 rs61753994 RCV000086768 RCV001787058 RCV000851799 |
150 | L>P | von Willebrand disorder von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs990682639 CA232349411 RCV002245637 RCV000760132 RCV001335410 |
202 | R>W | von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs62643623 CA228744 RCV001787067 RCV000086853 |
218 | Q>* | von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000086858 RCV001787068 rs62643624 CA228753 |
222 | W>* | von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000851880 rs63749067 RCV000086900 |
263 | C>missing | von Willebrand disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000779110 rs1565853894 |
265 | C>missing | von Willebrand disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
CA383508513 rs747799959 RCV000852228 |
272 | A>P | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV003313936 CA228829 COSM3765663 rs61753997 VAR_010242 RCV000086907 |
273 | R>W | liver von Willebrand disease type 1 VWD1 and VWD3; defect in secretion and formation of multimers [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP |
|
RCV002243755 rs61753998 RCV000086911 CA228836 |
275 | C>R | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA228834 RCV001787084 RCV000086910 rs61753998 |
275 | C>S | von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000180179 CA203585 RCV000385776 RCV002243869 RCV001636712 VAR_057023 rs1800387 RCV002243870 RCV002243868 |
318 | N>K | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001787087 RCV002280872 RCV002243756 CA228862 rs61754000 RCV000086927 |
324 | R>* | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6403610 RCV000851924 rs147924974 |
331 | C>* | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA232322015 RCV000851626 rs932134873 |
334 | G>E | von Willebrand disorder Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs535978867 RCV000331112 RCV003153556 CA6403576 |
351 | V>M | von Willebrand disorder Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000086555 RCV000000344 CA114174 rs61754002 |
357 | Y>* | von Willebrand disease type 2N [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001787040 rs61754003 RCV000086556 CA228257 |
365 | R>* | von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs62643626 VAR_005782 CA228263 RCV000086560 |
377 | W>C | VWD3 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000356731 rs886049745 CA10642188 |
381 | N>S | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000506145 RCV002481634 CA6403498 rs779082753 |
402 | R>K | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002271405 RCV000086561 rs61754006 |
404 | F>NP | Von Willebrand disease type 2A [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000851587 rs1591895308 |
447 | R>missing | von Willebrand disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000254402 RCV001706298 VAR_060591 rs1800377 RCV002243945 CA6403433 RCV002243944 RCV000359908 RCV002243943 |
471 | V>I | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002243950 RCV000390452 RCV000249735 RCV002243951 rs1800378 CA6403395 RCV002243949 VAR_024553 RCV001357216 |
484 | H>R | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs144817575 CA6403389 RCV000852034 |
488 | A>G | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001270793 CA6403379 rs774725519 |
499 | Q>H | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs139830291 RCV003117556 RCV000851704 CA6403375 |
505 | R>H | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000506932 rs1555198442 CA645509534 RCV003320360 |
521 | C>S | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002243608 RCV000000346 CA114178 rs61754010 RCV000086569 VAR_005783 |
528 | N>S | von Willebrand disease type 2 Von Willebrand disease type 2A VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
CA383498252 RCV002264736 rs1591890769 RCV000852041 |
536 | L>P | von Willebrand disorder von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6403319 RCV000765104 rs141649383 RCV003147455 RCV000852047 RCV003323534 RCV002264696 RCV000760113 |
542 | A>G | von Willebrand disorder von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM1270331 RCV000086570 VAR_005784 CA114156 rs61754011 RCV000000332 |
550 | G>R | oesophagus Von Willebrand disease type 2A VWD2 [Cosmic, ClinVar, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl dbSNP |
|
RCV000086574 RCV000343818 rs150146744 CA228284 RCV000506040 |
576 | M>I | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003313776 rs267607308 CA228287 RCV000086576 |
594 | A>G | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002506077 CA6403256 RCV000759383 rs200586078 RCV001821208 |
606 | R>Q | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs776987924 RCV000852060 CA6403250 |
614 | S>F | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs886049744 RCV000387130 CA10643114 |
621 | C>S | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000851726 rs61754019 RCV000506298 CA228298 RCV000086582 RCV000477864 RCV003313777 |
641 | A>V | von Willebrand disorder von Willebrand disease type 1 Hemorrhage [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001787042 RCV000086584 rs61748460 CA228302 |
644 | E>* | von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000851729 rs761288966 CA383495444 |
658 | Y>* | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA383494920 RCV000851736 rs1591886521 |
687 | C>Y | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002552029 rs199623726 RCV001029880 CA6403185 RCV001800937 |
691 | P>T | von Willebrand disease type 1 Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA228307 RCV000086588 RCV001787043 rs61748463 |
706 | Q>* | von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001787044 RCV000086589 rs61748464 |
709 | C>missing | von Willebrand disease type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001787045 rs62643628 RCV000086591 |
720 | D>missing | von Willebrand disease type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_057024 CA201316 rs2228317 RCV002243714 RCV002243713 RCV002243715 RCV000175146 RCV000086592 RCV000267455 |
740 | M>I | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000086593 RCV001787046 rs61748465 |
757 | L>missing | von Willebrand disease type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs61748466 CA228314 RCV000086594 COSM5013852 RCV003147338 |
760 | R>C | Variant assessed as Somatic; MODERATE impact. von Willebrand disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA228316 RCV000024003 rs61748467 RCV000086595 |
760 | R>H | Variant assessed as Somatic; MODERATE impact. von Willebrand disease type 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1591880825 CA383522540 RCV000851739 |
767 | C>R | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs772203447 CA6403104 RCV000778379 COSM4740716 |
768 | R>Q | von Willebrand disorder Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs61748476 CA228334 RCV000086604 VAR_009141 |
788 | C>Y | VWD2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs1063856 RCV000250620 RCV000755433 RCV002243965 RCV002243964 VAR_005785 RCV000266084 RCV002243966 CA6403090 |
789 | T>A | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_005786 CA114135 RCV000086606 RCV000000318 RCV002264633 RCV002227436 RCV000851745 rs61748477 |
791 | T>M | von Willebrand disorder von Willebrand disease type 2N von Willebrand disease type 2 VWD2; Normandy type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
rs61748478 RCV000086607 CA114166 RCV000000340 |
795 | Y>C | von Willebrand disease type 2N [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA114168 rs62643630 RCV000086609 RCV000000341 |
804 | C>F | von Willebrand disease type 2N [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs62643632 RCV000086611 RCV000851752 RCV000000330 RCV000852083 RCV002264635 RCV002476902 |
812 | P>missing | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000086613 CA114137 VAR_005787 RCV001195286 RCV000000319 rs121964894 |
816 | R>W | von Willebrand disorder von Willebrand disease type 2N VWD2; Normandy type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs57950734 RCV002243716 RCV002243718 RCV000247162 RCV002243717 RCV000086615 RCV002490752 CA228345 RCV000310668 |
817 | H>Q | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001270518 rs61748481 RCV001787048 RCV000086616 |
839 | G>missing | von Willebrand disease type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000336497 RCV000000321 VAR_005789 RCV000086620 RCV000000320 CA114139 RCV000851593 rs41276738 RCV000762901 RCV001270529 RCV000169683 |
854 | R>Q | von Willebrand disorder von Willebrand disease type 2N von Willebrand disease type 1 von Willebrand disease type 2 VWD2; Normandy type [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000086619 rs61748482 CA228351 RCV001787049 |
854 | R>W | von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs765163545 RCV000477961 RCV000852094 CA6403020 |
857 | N>S | von Willebrand disorder von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1591874316 RCV000852098 |
884 | L>missing | von Willebrand disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs33978901 CA228368 RCV002243720 RCV002243719 RCV000086632 RCV001787051 |
924 | R>Q | von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6402916 RCV001335404 rs370984712 |
960 | R>W | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002245636 CA6402913 RCV000760115 rs141087261 RCV002245635 RCV002245634 |
967 | G>D | von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1591870340 RCV000851766 CA383516346 |
974 | W>* | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000086635 CA228372 RCV002264642 rs267607312 |
979 | S>N | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA383515383 rs1591867991 RCV000851594 |
994 | G>D | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003317406 RCV001787121 rs368366214 RCV001284259 |
1034 | T>missing | von Willebrand disease type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000600065 rs762105711 |
1060 | C>missing | von Willebrand disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000000345 VAR_028446 rs61748497 RCV000086640 CA114176 |
1060 | C>R | von Willebrand disease type 2N VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA228380 RCV002264643 rs267607314 RCV000086641 RCV002264644 |
1060 | C>Y | von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA6402790 RCV000851632 rs759805079 |
1084 | C>Y | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA228392 RCV002243722 rs267607319 RCV000086647 |
1107 | Y>C | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267607321 RCV000086649 CA228396 RCV002281057 RCV000851636 |
1120 | W>S | von Willebrand disorder von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002481740 rs183119284 CA6402770 RCV000519420 RCV001270611 |
1122 | T>M | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002245832 RCV001001172 rs1591866134 CA383511780 |
1126 | C>Y | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA228404 RCV000086654 RCV002243723 rs267607324 |
1130 | C>F | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002264640 RCV000086656 RCV001800314 CA228408 RCV000851956 rs267607326 RCV000024001 |
1146 | Y>C | von Willebrand disorder von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA228410 RCV002264636 VAR_064925 RCV000086657 RCV000000337 rs61748511 |
1149 | C>R | von Willebrand disease type 1 von Willebrand disease type 2 VWD1; reduced secretion of homodimers and heterodimers with wild type VWD and increased degradation by the proteasome [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000086659 CA228414 rs267607328 RCV001787053 RCV000851957 RCV002264645 |
1156 | T>M | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002264675 CA6402756 RCV000283100 rs566672558 RCV000254215 |
1162 | P>L | von Willebrand disorder von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV003126497 RCV000086663 rs267607332 RCV001093531 CA228421 |
1180 | G>R | von Willebrand disorder Von Willebrand disease type 2A [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001787054 CA228423 RCV000086664 RCV000851643 rs61749364 RCV002264646 |
1190 | C>R | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003317360 RCV002222625 CA383510975 rs1591865026 RCV001003907 RCV000851644 |
1190 | C>Y | von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002274046 CA6402724 RCV000508382 RCV000851647 rs373787920 |
1205 | R>C | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000086666 RCV000000335 CA114160 rs121964895 RCV001003906 RCV000000336 RCV000851598 |
1205 | R>H | von Willebrand disorder von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs61749366 RCV000086669 CA228431 RCV001787055 |
1227 | C>R | von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000086670 CA228433 RCV002264648 rs61749367 RCV000250437 RCV002264649 RCV002243724 RCV000851979 RCV002264647 |
1229 | V>G | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001824942 CA6402698 RCV001787126 rs61749368 RCV002280902 RCV002225814 |
1231 | N>S | von Willebrand disease type 3 von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA228435 rs61749368 RCV002243725 RCV000086671 RCV000851980 RCV000242240 |
1231 | N>T | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs150576611 RCV001284371 CA6402693 RCV000327886 |
1240 | P>L | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6402680 rs770872838 RCV002714572 |
1251 | P>L | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000314989 VAR_005791 RCV000853236 RCV002247228 RCV000086676 RCV003313771 RCV000454456 CA114170 rs61749370 RCV000000342 |
1266 | P>L | von Willebrand disorder von Willebrand disease type 1 von Willebrand disease type 2 Von Willebrand disease type 2B VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002281924 RCV002247493 rs61749370 RCV001823113 RCV000086675 RCV002490753 RCV000678765 CA228441 |
1266 | P>Q | von Willebrand disorder von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002243727 VAR_005792 rs61749371 CA228445 RCV002243726 RCV000086678 |
1268 | H>D | von Willebrand disorder von Willebrand disease type 2 VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs63524161 VAR_067340 RCV000086683 CA228453 |
1272 | C>F | VWD2; subtype 2A [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000000328 RCV000086679 RCV002243607 VAR_005793 rs61749372 CA114149 |
1272 | C>R | von Willebrand disease type 2 Von Willebrand disease type 2A VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs61749375 RCV002243728 RCV000086685 |
1277 | D>E | von Willebrand disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003313778 RCV001002668 CA228459 RCV000086686 RCV002222388 RCV002280868 rs61749376 RCV000851984 |
1279 | V>I | von Willebrand disorder von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA383506852 rs1591863438 RCV000851985 RCV002222051 |
1281 | L>P | von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003155073 rs61749377 RCV000086688 |
1283 | D>missing | von Willebrand disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000000339 RCV000086691 CA114164 rs61749380 |
1285 | S>F | von Willebrand disease type 2M [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs61749379 RCV000086690 CA228466 RCV002264650 |
1285 | S>P | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000086693 RCV002264651 CA228470 rs267607334 RCV002264652 RCV000851986 |
1288 | L>R | von Willebrand disorder von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002264653 rs267607335 CA228472 RCV000086694 |
1293 | F>L | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002243730 CA228484 rs61749385 RCV000086701 RCV003226194 |
1306 | R>L | von Willebrand disorder von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs61749385 CA228482 RCV002243729 RCV000086700 |
1306 | R>Q | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000851599 RCV000000312 RCV000086699 VAR_005794 RCV000851989 CA114123 RCV000851990 rs61749384 |
1306 | R>W | von Willebrand disorder von Willebrand disease type 2 Von Willebrand disease type 2B VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs61749386 CA228486 RCV000086702 RCV002264654 |
1307 | L>P | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002225253 RCV000851770 RCV000086703 RCV000000313 CA114125 rs61749387 VAR_005795 |
1308 | R>C | von Willebrand disorder Variant assessed as Somatic; MODERATE impact. von Willebrand disease type 2 Von Willebrand disease type 2B VWD2 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA228492 RCV000086706 RCV002243731 RCV000678766 rs61749389 |
1309 | I>V | von Willebrand disorder von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA228496 RCV001787056 RCV002280869 RCV001250230 rs267607337 RCV000086708 |
1311 | Q>* | von Willebrand disorder von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000086709 CA114121 RCV000000311 rs61749392 VAR_005796 |
1313 | W>C | Von Willebrand disease type 2B VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000087017 VAR_005797 CA114151 rs61749393 RCV000000329 |
1314 | V>L | Von Willebrand disease type 2B VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000086712 COSM1704940 RCV002264655 RCV002243732 rs61749395 RCV000851600 CA228502 |
1315 | R>C | von Willebrand disorder Variant assessed as Somatic; MODERATE impact. skin von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar Ensembl NCI-TCGA dbSNP |
|
rs61749396 RCV002466429 RCV000086713 CA228504 RCV000505876 |
1315 | R>H | Variant assessed as Somatic; MODERATE impact. von Willebrand disease type 2 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs61749396 RCV002243733 CA228506 RCV000086714 |
1315 | R>L | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA114127 RCV000678767 RCV000507168 RCV000086715 RCV000000314 RCV002476901 RCV000851771 VAR_005798 rs61749397 |
1316 | V>M | von Willebrand disorder von Willebrand disease type 1 von Willebrand disease type 2 Von Willebrand disease type 2B VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs372028373 VAR_005799 CA383506062 |
1318 | V>L | VWD2 [UniProt] | Yes |
ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
CA6402644 rs372028373 RCV000276216 |
1318 | V>M | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1591863294 RCV000851773 CA383506019 |
1321 | Y>C | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_005800 RCV000000327 CA114147 rs61749398 RCV000086716 |
1324 | G>S | von Willebrand disease type 2M VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs886049741 CA10638269 RCV001787097 RCV000354347 RCV001001031 |
1336 | R>Q | von Willebrand disorder von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000086718 rs61749400 RCV002222015 CA228510 RCV002243734 |
1337 | P>L | von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000086722 CA228516 RCV002264656 rs61749403 |
1341 | R>P | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000000315 rs61749403 RCV002227435 RCV000086721 CA114129 VAR_005801 RCV002243605 |
1341 | R>Q | von Willebrand disorder Variant assessed as Somatic; MODERATE impact. von Willebrand disease type 2 Von Willebrand disease type 2B VWD2 [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA dbSNP gnomAD |
|
RCV002280870 RCV000086720 CA228514 rs61749402 RCV003323398 RCV002243735 |
1341 | R>W | von Willebrand disorder Variant assessed as Somatic; MODERATE impact. von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV002272127 rs150923481 RCV000086724 RCV003235041 CA228520 RCV000851778 |
1343 | I>V | von Willebrand disorder von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001787057 CA228522 rs61749405 RCV000086725 |
1346 | Q>* | von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000086726 CA228524 RCV002264657 rs61749407 |
1359 | E>K | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000678768 RCV000851781 RCV000086728 rs61749408 CA228528 |
1361 | L>S | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA6402601 RCV000297167 rs199675425 |
1368 | I>T | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000086731 rs61750069 CA228533 RCV002222390 RCV000851784 |
1369 | F>I | von Willebrand disorder von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs61750069 RCV000852114 CA383505291 |
1369 | F>L | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA228535 rs61750070 RCV000678769 RCV002243736 RCV003226195 RCV000086732 |
1372 | I>S | von Willebrand disorder von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA228539 VAR_005802 RCV002222016 RCV000086734 rs61750071 RCV000678770 |
1374 | R>C | von Willebrand disorder von Willebrand disease type 2 VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
RCV000086735 RCV001093529 VAR_005803 RCV000851939 RCV000626712 RCV000852116 CA228541 RCV002264658 rs61750072 |
1374 | R>H | von Willebrand disorder von Willebrand disease type 1 von Willebrand disease type 2 Von Willebrand disease type 2A VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA228543 RCV000086736 RCV002264659 RCV002243737 rs61750072 |
1374 | R>L | von Willebrand disorder von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000759397 CA6402597 RCV001816815 RCV002245633 rs141211612 |
1377 | A>V | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002243738 CA228547 COSM290551 RCV000778378 RCV000086738 rs61750074 RCV002264660 |
1379 | R>C | von Willebrand disorder Variant assessed as Somatic; MODERATE impact. large_intestine von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar, NCI-TCGA, Cosmic] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000755447 RCV002480119 RCV002244790 RCV002244791 CA6402595 RCV000400807 rs11063988 RCV002244789 |
1380 | I>V | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000337059 RCV002244013 VAR_005804 rs216311 RCV000251458 RCV002244014 CA6402593 RCV002244015 RCV001354682 |
1381 | T>A | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000852119 CA228555 RCV000086742 rs61750077 RCV002222017 |
1399 | R>C | von Willebrand disorder von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA114133 rs1800382 RCV000756907 RCV001270629 RCV000000317 RCV003234883 RCV000851940 VAR_005805 RCV002243606 |
1399 | R>H | von Willebrand disorder von Willebrand disease type 1 VON WILLEBRAND FACTOR POLYMORPHISM [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002466251 RCV001093530 rs61750078 RCV002271406 RCV000086745 RCV002243739 |
1408 | K>missing | von Willebrand disorder von Willebrand disease type 2M von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000086749 CA228569 RCV000852123 rs61750081 RCV002243740 |
1416 | I>N | von Willebrand disorder von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000506329 RCV001563671 CA383503536 rs61750081 |
1416 | I>T | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs61750083 RCV002227446 RCV002498470 RCV000086751 CA228573 |
1425 | I>F | von Willebrand disorder Variant assessed as Somatic; MODERATE impact. von Willebrand disease type 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV000302817 RCV002244786 RCV002480118 RCV000756904 rs11063987 CA6402552 RCV002244787 RCV002244788 |
1435 | N>S | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000086752 RCV002243741 CA228575 rs61750084 |
1437 | A>T | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs533417176 CA6402545 RCV000851791 |
1454 | V>I | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs61750088 VAR_005806 RCV000086757 CA228584 |
1460 | L>V | VWD2 [UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA228588 VAR_005807 RCV000086759 rs61750089 RCV000506610 |
1461 | A>V | VWD2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA228590 RCV002466430 rs61750090 RCV000086760 |
1462 | P>A | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002244017 VAR_029656 RCV001812683 RCV000397126 CA6402534 RCV001093528 RCV000243265 RCV002244018 rs1800383 RCV002244016 |
1472 | D>H | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 2M von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001420493 CA383502052 RCV003141914 rs1800383 |
1472 | D>N | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003313787 RCV001816687 COSM225895 rs149424724 CA6402527 RCV000986075 RCV000678771 |
1486 | S>L | von Willebrand disorder skin von Willebrand disease type 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA232297764 RCV001335407 rs1009808532 |
1498 | D>N | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA383501687 rs1555194979 RCV002264704 RCV000506081 |
1499 | V>E | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000086774 RCV000852128 CA228615 RCV002222018 rs61750100 |
1506 | S>L | von Willebrand disorder von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA114154 VAR_005808 RCV000086775 rs61750101 RCV000000331 |
1514 | F>C | Von Willebrand disease type 2A VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV001787059 rs61750103 RCV000086777 |
1523 | E>* | von Willebrand disease type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001027679 CA6402505 rs780538558 |
1527 | R>Q | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs267607340 RCV002264662 RCV000852131 RCV000086778 |
1535 | I>missing | von Willebrand disorder von Willebrand disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607342 RCV000086780 CA228624 VAR_005809 |
1540 | L>P | VWD2 [UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA383500714 rs1591862393 RCV000852133 |
1541 | Q>R | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000086781 RCV001787060 rs267607343 CA228626 |
1542 | Y>* | von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs267607344 CA228628 RCV002222391 RCV000086782 |
1543 | S>F | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000852134 rs1591862366 CA383500567 |
1546 | V>G | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000852135 rs1591862342 |
1550 | Y>S | von Willebrand disease type 2 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000086786 rs61750110 RCV002264663 CA228635 |
1556 | Q>R | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002244026 RCV002244027 RCV001812685 RCV000382042 RCV002244025 CA6402474 rs1800385 VAR_014630 RCV000244522 |
1565 | V>L | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs267607349 RCV002264664 RCV000086790 CA228643 |
1573 | G>S | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA383499865 rs1591862230 RCV000852138 |
1576 | T>N | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_005810 RCV002280857 RCV000678772 CA114162 RCV001255177 RCV001843449 RCV000622977 rs1800386 RCV000086795 RCV003313770 RCV000000338 |
1584 | Y>C | von Willebrand disease, type 1, susceptibility to von Willebrand disorder Thrombus von Willebrand disease type 1 von Willebrand disease type 2 Inborn genetic diseases exhibits increased in susceptibility to proteolysis by ADAMTS13 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000086796 VAR_005811 rs61750117 CA228653 |
1597 | R>G | VWD2 [UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
CA228657 RCV002243742 RCV000086799 RCV000852141 VAR_005812 rs61750577 |
1597 | R>Q | von Willebrand disorder von Willebrand disease type 2 VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000000309 RCV002243603 RCV000086797 rs61750117 VAR_005813 RCV000999877 COSM1178585 RCV000623564 CA114117 RCV000851942 |
1597 | R>W | von Willebrand disorder oesophagus prostate von Willebrand disease type 2 Inborn genetic diseases Von Willebrand disease type 2A VWD2 [ClinVar, Cosmic, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt dbSNP gnomAD |
|
RCV002243604 rs61750579 VAR_005814 CA114119 RCV000000310 RCV000086803 |
1607 | V>D | von Willebrand disease type 2 Von Willebrand disease type 2A VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV002243743 rs61750580 CA228665 VAR_005815 RCV000086804 |
1609 | G>R | von Willebrand disease type 2 VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA383498979 RCV000852143 rs1591862118 |
1612 | A>P | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs61750581 CA114131 RCV000086805 RCV000000316 VAR_005816 |
1613 | S>P | Von Willebrand disease type 2A VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
CA114115 rs61750584 VAR_005817 RCV000778377 RCV000086808 RCV000000308 RCV002243602 |
1628 | I>T | von Willebrand disorder von Willebrand disease type 2 Von Willebrand disease type 2A VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs61750588 RCV003230404 CA228676 VAR_005818 RCV000086812 |
1638 | E>K | VWD2 [UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs1591862022 RCV001811479 RCV000851803 CA383498671 |
1644 | W>* | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000086814 rs61750590 VAR_005819 CA228680 |
1648 | P>S | Variant assessed as Somatic; MODERATE impact. VWD2 [NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
RCV000086816 RCV001787061 rs61750591 |
1649 | I>missing | von Willebrand disease type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA114141 RCV000000322 RCV000086820 RCV000000323 rs61750595 RCV002227437 COSM1990391 |
1659 | R>* | von Willebrand disorder pancreas von Willebrand disease type 3 von Willebrand disease type 1 [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000086822 rs61750596 VAR_005820 CA228692 RCV002243744 |
1665 | V>E | von Willebrand disease type 2 VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
RCV000086824 rs61750598 CA228696 RCV002281925 RCV002243745 |
1672 | G>R | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002243746 rs61750603 CA228704 RCV000343743 RCV000086830 RCV000826083 |
1731 | S>T | von Willebrand disorder von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs267607352 RCV001787130 |
1745 | W>* | von Willebrand disease type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607352 CA228706 RCV002271338 RCV000086831 |
1745 | W>C | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000852152 RCV000086833 CA228710 rs61750605 |
1774 | L>S | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003156071 rs61750606 RCV001787064 RCV000086835 CA228713 |
1779 | R>* | von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002468978 RCV000086836 CA228715 RCV000024004 rs267607353 |
1783 | S>A | von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs551649729 RCV000330483 CA243723 RCV000177518 COSM5498050 |
1790 | P>L | von Willebrand disorder Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000086838 CA228719 RCV002264666 rs267607355 |
1794 | K>E | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs61750608 RCV000086839 CA228721 RCV002515778 |
1818 | N>S | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA383493882 RCV000852158 rs61750610 |
1824 | P>R | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000985056 rs1591858979 |
1841 | G>missing | von Willebrand disease type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
CA6402238 RCV001796735 rs201548925 RCV000388372 |
1845 | D>N | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000000325 RCV001813924 RCV000000324 CA114143 RCV000851820 RCV000086843 rs61750612 |
1853 | R>* | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs746837624 RCV000851826 CA6402184 COSM942312 |
1890 | G>R | von Willebrand disorder endometrium [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA6402158 RCV000299801 rs149799233 |
1929 | N>Y | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA232292894 rs139845585 RCV002264738 RCV001807345 RCV000852160 |
1934 | V>G | von Willebrand disorder von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
rs1591849732 CA383492952 RCV000851603 |
1950 | C>Y | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000852162 rs144072210 RCV001787107 RCV002469281 RCV002264731 RCV000994803 RCV003147542 CA6402133 |
1951 | T>A | von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002222058 CA6402130 rs751433166 RCV000994802 COSM1232475 |
1956 | R>W | large_intestine von Willebrand disease type 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs886049739 RCV000358578 CA10642148 |
1959 | V>G | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001270345 RCV001356243 RCV001357164 CA6402106 rs761740133 |
2009 | H>Y | von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000306101 CA6402102 rs775806908 |
2015 | E>K | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs61750614 RCV000086847 RCV001787065 |
2061 | F>missing | von Willebrand disease type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002243748 VAR_009142 RCV002243749 RCV000177861 CA202650 RCV002243747 RCV000400661 RCV000086848 rs61750615 |
2063 | P>S | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 VWD3; likely benign variant [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000345879 RCV002522245 CA10633397 rs886049738 |
2066 | N>D | von Willebrand disorder Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000086849 RCV002243750 rs61750616 CA228736 |
2104 | T>I | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs761604165 CA6402011 RCV000851835 |
2105 | T>I | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA232287266 RCV000851841 rs923531708 RCV000851840 |
2141 | V>I | von Willebrand disorder von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002280871 rs61750618 RCV000086851 CA228740 RCV000778376 |
2145 | P>S | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000851845 rs779764302 CA6401982 RCV003314644 RCV002264734 |
2160 | Y>C | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000851607 rs1591848387 CA383491152 |
2163 | C>Y | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA228742 rs61750619 RCV000086852 RCV001787066 |
2174 | C>G | von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000086854 rs61750620 RCV002264668 CA228746 |
2179 | S>F | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000852180 CA383490850 rs1591848338 |
2180 | Y>H | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002243753 RCV002243752 RCV000401548 VAR_057027 RCV000241790 CA228748 RCV002483170 rs2229446 RCV000086855 RCV002243751 |
2185 | R>Q | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000986084 RCV000852182 rs569962285 RCV001029879 COSM169003 RCV002264739 CA6401966 |
2185 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine von Willebrand disease type 1 von Willebrand disease type 2 [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs753731128 RCV000346976 CA6401960 |
2191 | V>A | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000294318 rs777556669 CA6401940 |
2204 | P>L | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA383489915 RCV000851851 rs1232884671 |
2254 | C>W | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000086862 rs61750625 RCV002265605 CA228760 RCV000765102 |
2287 | R>W | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV003235186 CA6401845 rs149432685 RCV000373951 |
2303 | T>M | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002264669 rs61750626 RCV001787069 CA228762 RCV000086863 |
2304 | C>Y | von Willebrand disease type 3 von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs150725355 CA6401840 RCV000321650 |
2311 | R>C | von Willebrand disorder Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA228766 RCV000086865 RCV001336951 rs62641242 |
2313 | R>H | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs144769404 RCV000361746 CA6401803 |
2336 | P>L | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000852194 CA383491725 rs111597150 RCV002264740 |
2360 | C>* | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_009143 RCV000000343 RCV000086870 CA114172 rs61750630 |
2362 | C>F | von Willebrand disease type 3 VWD3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs267607359 RCV001787071 RCV000086872 |
2378 | H>missing | von Willebrand disease type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000086873 CA228775 rs61751283 RCV000852195 RCV002509210 |
2379 | R>C | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM5704535 CA6401733 RCV000310447 rs754853953 |
2414 | A>T | von Willebrand disorder Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001787112 rs1591841452 |
2418 | C>missing | von Willebrand disease type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001787072 RCV000086877 CA228781 rs62643640 |
2434 | R>* | von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1591838833 CA383490468 RCV000852203 |
2451 | C>Y | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000851615 rs1591838814 |
2454 | T>missing | von Willebrand disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000086880 RCV002264670 RCV001270490 RCV000778374 CA228786 COSM4949822 rs61751286 |
2464 | R>C | von Willebrand disorder Variant assessed as Somatic; MODERATE impact. von Willebrand disease type 1 [ClinVar, NCI-TCGA] | Yes |
ClinGen NCI-TCGA Cosmic ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA383490368 rs1591838792 RCV001787113 |
2467 | Q>* | von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000086881 rs61751287 CA228788 RCV001787073 |
2469 | S>P | von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA228790 RCV000852206 RCV000086882 COSM549495 RCV001787074 rs61751288 |
2470 | Q>* | lung von Willebrand disorder von Willebrand disease type 3 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA383490296 rs1591838774 RCV001787110 |
2477 | C>R | von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000851865 rs139864572 CA6401661 |
2484 | V>I | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001759470 RCV000778373 rs1229452874 |
2495 | L>missing | von Willebrand disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV003226384 RCV001796780 RCV002264735 RCV000851866 CA6401654 rs369669154 |
2498 | A>D | von Willebrand disorder von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000851867 rs1591836930 |
2509 | D>missing | von Willebrand disorder [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1943442849 RCV001260928 |
2527 | P>H | von Willebrand disease type 1 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000000326 RCV000086892 CA114145 rs61751296 RCV002227438 RCV002264634 |
2535 | R>* | Variant assessed as Somatic; HIGH impact. von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA dbSNP gnomAD |
|
RCV002503143 RCV000986088 CA6401603 rs150778949 |
2540 | V>A | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000086893 CA228808 RCV001787075 rs61751297 |
2544 | Q>* | von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002225289 RCV000086894 CA228810 VAR_009144 RCV001787076 rs61751298 |
2546 | N>Y | von Willebrand disease type 3 von Willebrand disease type 1 VWD3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
|
RCV000086895 RCV001787077 rs267607364 |
2557 | C>missing | von Willebrand disease type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs267607365 RCV001787078 RCV000086896 |
2559 | S>missing | von Willebrand disease type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002244058 RCV002244060 RCV000252234 rs35335161 CA6401588 RCV000368572 RCV000994793 RCV002244059 |
2561 | F>Y | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA6401558 rs369970893 RCV000852210 |
2578 | R>C | von Willebrand disorder Variant assessed as Somatic; MODERATE impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000393200 rs886049737 CA10638259 |
2597 | I>N | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1591834850 RCV001787115 |
2622 | T>missing | von Willebrand disease type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs61751302 CA228819 RCV000765101 RCV002225290 COSM357715 RCV000851886 RCV000086901 RCV002225291 |
2647 | T>M | lung von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000851890 CA6401423 RCV000986090 RCV002280878 RCV000413262 RCV000778372 rs149834874 RCV001270575 |
2663 | R>P | von Willebrand disorder von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000323842 CA6401422 RCV002243902 RCV002243901 RCV000224741 rs78353028 RCV002243903 RCV002478824 |
2666 | T>M | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000086902 rs61751303 RCV001787081 CA228821 |
2671 | C>Y | von Willebrand disease type 3 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003313785 RCV000594988 CA6401416 RCV002506430 rs151129435 |
2679 | N>S | von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA383487478 rs1565806829 RCV000778371 |
2684 | Y>* | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV003317409 rs76459136 RCV000994790 CA6401409 RCV002254195 |
2695 | P>R | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000285216 CA10633391 rs886049736 |
2699 | H>R | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000243707 rs7962217 RCV000381947 CA6401404 VAR_057028 RCV002244066 RCV002244064 RCV002244065 |
2705 | G>R | von Willebrand disorder von Willebrand disease type 3 von Willebrand disease type 1 von Willebrand disease type 2 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA383487083 RCV000852232 rs1591827147 |
2739 | C>R | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs61751305 CA228832 VAR_005821 RCV000086909 RCV001787083 |
2739 | C>Y | von Willebrand disease type 3 VWD3 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC dbSNP gnomAD |
|
rs267607368 RCV001787085 RCV000086912 |
2748 | H>missing | von Willebrand disease type 3 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000852236 CA6401339 rs776681874 RCV002280892 |
2759 | M>T | von Willebrand disorder von Willebrand disease type 1 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA232258301 RCV000852235 rs776211115 |
2759 | M>V | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1591826730 RCV000852237 CA383486702 |
2769 | D>E | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_005822 CA114158 RCV000086917 RCV000000333 rs61751310 |
2773 | C>R | Von Willebrand disease type 2A VWD2 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs374314985 CA6401327 COSM3398969 RCV003190330 |
2779 | T>M | Variant assessed as Somatic; MODERATE impact. central_nervous_system Inborn genetic diseases [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6401322 rs371036946 RCV002705066 |
2789 | T>N | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA6401323 rs371036946 RCV000364601 |
2789 | T>S | von Willebrand disorder [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA383510882 rs1314021275 |
3 | P>S | No |
ClinGen gnomAD |
|
|
CA383510785 rs1478605207 |
6 | F>C | No |
ClinGen TOPMed |
|
|
rs1374009057 CA383510799 |
6 | F>L | No |
ClinGen gnomAD |
|
|
rs866946680 CA232321721 |
7 | A>V | No |
ClinGen Ensembl |
|
|
CA6403990 rs201015235 COSM1704947 |
8 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs201015235 CA6403991 |
8 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6403987 rs768885457 CA6403988 |
9 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403989 rs768885457 |
9 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 10 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747049949 CA6403986 |
14 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs1295142745 CA383510476 |
17 | L>F | No |
ClinGen TOPMed |
|
|
rs267603621 CA6403909 |
19 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1248200326 CA383509120 |
21 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs768896863 CA6403905 |
25 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs747404115 CA6403904 RCV000759407 |
26 | T>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA383508951 rs1373999500 |
27 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA6403903 rs773817619 |
27 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1704946 COSM3464114 |
28 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6403900 rs777235699 |
28 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403899 rs755672837 |
29 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA383508870 rs1468538045 |
30 | S>* | No |
ClinGen gnomAD |
|
|
rs1591930443 CA383508872 |
30 | S>A | No |
ClinGen Ensembl |
|
|
CA232319531 rs772515993 |
32 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA6403898 rs537944350 |
32 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs368132716 CA6403896 |
33 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA228253 rs61753984 RCV000086553 |
34 | R>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs766468461 CA6403895 |
34 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374601266 CA6403894 |
36 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383508709 rs750720570 |
36 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs374601266 CA383508718 |
36 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762049443 CA6403891 |
39 | G>E | No |
ClinGen ExAC gnomAD |
|
|
COSM4740721 CA383508636 COSM4740720 rs1397778191 |
39 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
rs138001833 CA6403889 |
40 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs138001833 CA6403890 |
40 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383508486 rs200710351 CA232319470 |
42 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403886 rs772466729 |
43 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA232319455 rs1012488531 |
44 | N>S | No |
ClinGen gnomAD |
|
|
CA383508414 rs1012488531 |
44 | N>T | No |
ClinGen gnomAD |
|
|
CA228271 RCV000086564 rs61753985 |
47 | D>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1195660161 CA383508261 |
49 | S>R | No |
ClinGen TOPMed |
|
|
rs61753986 RCV000086565 CA228273 CA6403884 |
49 | S>R | No |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
|
CA232319425 rs958629333 |
50 | M>T | No |
ClinGen Ensembl |
|
|
COSM4044049 COSM4044048 |
51 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs747701551 CA6403882 |
52 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA383508104 rs1479532600 |
53 | F>S | No |
ClinGen gnomAD |
|
|
rs200901782 CA6403881 |
54 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301367628 CA383507966 |
56 | Y>C | No |
ClinGen gnomAD |
|
|
CA228282 RCV000086573 rs61753987 |
57 | C>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs779874391 CA6403878 |
57 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA383507922 rs61753987 |
57 | C>W | No |
ClinGen gnomAD |
|
|
CA6403877 rs758324527 |
59 | Y>H | No |
ClinGen ExAC |
|
| TCGA novel | 62 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs906927941 CA232319351 |
62 | A>T | No |
ClinGen Ensembl |
|
|
rs62643618 RCV000086581 |
64 | G>missing | No |
ClinVar dbSNP |
|
|
CA383507698 rs1591930324 |
64 | G>A | No |
ClinGen Ensembl |
|
|
COSM4846781 COSM4846780 |
66 | Q>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA232319296 rs892950501 |
66 | Q>K | No |
ClinGen Ensembl |
|
|
CA6403875 rs765560613 |
66 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs757353387 CA6403874 COSM1735039 |
68 | R>C | Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6403873 rs753973552 |
68 | R>H | No |
ClinGen ExAC gnomAD |
|
|
RCV000086590 rs62643619 CA228310 |
71 | S>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6403871 rs62643619 |
71 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA232319223 rs921931922 |
73 | I>F | No |
ClinGen Ensembl |
|
|
COSM3464110 rs756159469 COSM3464111 |
74 | G>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
rs777859406 CA6403855 |
74 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768075585 CA6403852 |
78 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs1020664699 CA232363901 |
79 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 80 | K>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383519609 rs1274318204 |
81 | R>K | No |
ClinGen gnomAD |
|
|
CA383519595 rs1233127757 |
82 | V>A | No |
ClinGen gnomAD |
|
|
RCV000086617 CA228348 rs62643620 |
85 | S>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs140044866 COSM4044047 COSM1270326 CA6403847 |
86 | V>M | Variant assessed as Somatic; MODERATE impact. oesophagus large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs62643621 RCV000086622 CA228355 |
87 | Y>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs996706475 CA383519529 |
88 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs996706475 CA232363868 |
88 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA232363846 rs751410490 |
89 | G>E | No |
ClinGen Ensembl |
|
|
CA383519499 rs1204340960 |
90 | E>D | No |
ClinGen gnomAD |
|
|
rs760170954 CA6403845 |
91 | F>I | No |
ClinGen ExAC gnomAD |
|
|
CA383519426 rs1415405296 |
95 | H>R | No |
ClinGen gnomAD |
|
|
rs1437432449 CA383519313 |
99 | N>I | No |
ClinGen TOPMed |
|
|
rs1475875021 CA383519284 |
101 | T>A | No |
ClinGen gnomAD |
|
|
rs147514785 CA6403841 |
102 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs770652563 CA6403840 |
103 | T>K | No |
ClinGen ExAC |
|
|
CA6403838 rs777859270 |
105 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1428358025 CA383519180 |
106 | D>A | No |
ClinGen TOPMed |
|
| TCGA novel | 106 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383519071 rs1591924432 |
110 | S>A | No |
ClinGen Ensembl |
|
|
CA6403819 rs769955003 |
110 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA383519065 rs1262180179 |
111 | M>L | No |
ClinGen TOPMed |
|
|
rs1349554783 CA383519059 |
111 | M>T | No |
ClinGen gnomAD |
|
|
rs1280452644 CA383519049 |
112 | P>S | No |
ClinGen gnomAD |
|
|
COSM6137624 COSM6137625 |
114 | A>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM4946292 rs1365449398 COSM1562504 CA383519007 |
114 | A>V | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
rs1281205147 CA383518966 |
116 | K>N | No |
ClinGen gnomAD |
|
|
rs748190942 CA6403818 |
117 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383518913 rs1305880207 |
119 | Y>C | No |
ClinGen gnomAD |
|
| COSM278111 | 119 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs777585191 CA6403815 |
120 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM4870488 COSM942339 |
123 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1455811716 CA383518838 |
124 | A>S | No |
ClinGen TOPMed |
|
|
RCV000086673 rs63749066 |
125 | G>missing | No |
ClinVar dbSNP |
|
|
rs267607300 RCV000086674 |
126 | Y>missing | No |
ClinVar dbSNP |
|
|
CA383518809 rs1004001002 |
126 | Y>C | No |
ClinGen gnomAD |
|
|
CA232363407 rs1004001002 |
126 | Y>F | No |
ClinGen gnomAD |
|
|
rs1410879724 CA383518789 |
127 | Y>C | No |
ClinGen gnomAD |
|
|
CA228468 rs61753991 RCV000086692 |
129 | L>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA383518738 rs1433436236 |
130 | S>C | No |
ClinGen TOPMed |
|
|
CA383518730 rs76505074 |
131 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383518701 rs1190459219 |
133 | A>T | No |
ClinGen gnomAD |
|
|
rs1486478814 CA383518681 |
134 | Y>C | No |
ClinGen gnomAD |
|
|
rs1209608007 CA383518657 |
135 | G>V | No |
ClinGen gnomAD |
|
|
rs1309918137 CA383518640 |
136 | F>S | No |
ClinGen gnomAD |
|
|
CA6403809 rs71582882 |
137 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA232363369 rs932271358 |
138 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6403808 rs545695166 |
139 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs148218885 CA383518564 |
140 | I>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs148218885 CA6403807 |
140 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61753993 RCV000086746 CA228563 |
141 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA228559 rs61753992 RCV000086744 |
141 | D>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs781180895 CA6403802 COSM1990543 COSM4209968 |
144 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs199939434 CA6403801 |
147 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1483313796 CA383518417 |
147 | Q>R | No |
ClinGen gnomAD |
|
|
CA228601 rs61753994 RCV000086767 |
150 | L>Q | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs768721653 CA6403800 |
150 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA383518327 rs1328350286 |
152 | D>G | No |
ClinGen TOPMed |
|
|
CA232363228 rs754806588 |
152 | D>H | No |
ClinGen gnomAD |
|
|
rs928730817 CA232363225 |
153 | R>K | No |
ClinGen gnomAD |
|
|
rs940748585 CA232363219 |
154 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs371953822 RCV000759401 CA6403797 |
156 | N>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6403796 rs553810662 |
157 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6403795 rs779098641 |
158 | T>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000086798 CA228655 rs61753995 |
160 | G>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA383518133 rs1370736490 |
163 | G>D | No |
ClinGen Ensembl |
|
|
rs747744741 CA232363137 |
164 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs754520488 CA6403791 |
165 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs62643622 RCV000086821 CA228690 |
166 | N>I | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs62643622 CA383518088 |
166 | N>T | No |
ClinGen TOPMed gnomAD |
|
|
CA383518067 rs1456095450 |
167 | I>M | No |
ClinGen TOPMed |
|
|
rs751076191 CA6403790 |
169 | A>T | No |
ClinGen ExAC |
|
|
rs201312416 CA232363083 |
169 | A>V | No |
ClinGen Ensembl |
|
|
rs1387184481 CA383518025 |
170 | E>G | No |
ClinGen gnomAD |
|
|
COSM4858315 COSM468743 |
170 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA232363071 rs200764995 |
172 | D>G | No |
ClinGen 1000Genomes gnomAD |
|
|
CA6403789 rs766305860 |
172 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs750391930 CA6403787 |
174 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA383517963 rs1179066080 |
174 | M>K | No |
ClinGen TOPMed |
|
|
rs762755471 CA6403788 |
174 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA232363042 rs201368895 |
175 | T>I | No |
ClinGen 1000Genomes gnomAD |
|
|
rs1555076348 CA6403785 |
175 | T>S | No |
ClinGen Ensembl |
|
|
CA383515253 rs1357081621 |
178 | G>A | No |
ClinGen TOPMed |
|
|
COSM3464105 COSM3464104 |
178 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6403762 rs760760518 |
179 | T>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 181 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3464103 COSM3464102 |
181 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs372719492 CA6403760 |
182 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383515147 rs1189316912 |
183 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA383515113 rs1261879138 |
184 | P>A | No |
ClinGen TOPMed |
|
|
CA6403758 rs774705733 |
184 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA383515090 rs1350557556 |
185 | Y>H | No |
ClinGen TOPMed |
|
|
COSM4857579 COSM468741 |
185 | Y>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6403757 rs771612011 |
188 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6403755 rs778239123 |
190 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA383514890 rs1282940525 |
193 | L>V | No |
ClinGen TOPMed |
|
|
CA383514873 rs1235088649 |
194 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 194 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1299804437 CA383514751 |
199 | W>* | No |
ClinGen gnomAD |
|
|
CA383514755 rs1370961985 |
199 | W>R | No |
ClinGen gnomAD |
|
|
CA383514708 rs1309327221 |
200 | C>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6403753 rs746578867 |
201 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs369737556 CA383514670 |
202 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6403752 rs369737556 |
202 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1293789701 CA383514654 |
203 | A>T | No |
ClinGen gnomAD |
|
|
COSM3464100 COSM3464101 |
205 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs745435568 CA6403750 |
207 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403749 rs377057638 |
208 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM468740 COSM4857989 |
209 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1409513467 CA383514478 |
210 | C>R | No |
ClinGen gnomAD |
|
|
rs753796586 CA6403747 |
211 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311956539 CA383514391 |
213 | S>A | No |
ClinGen TOPMed |
|
|
CA6403746 rs763817902 |
213 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs755941786 CA232349350 CA6403745 |
215 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA6403743 rs767837153 |
216 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383514301 rs1472879882 |
217 | M>T | No |
ClinGen gnomAD |
|
|
CA383514279 rs62643623 |
218 | Q>K | No |
ClinGen gnomAD |
|
|
CA383509527 rs770423079 |
221 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403712 rs770423079 |
221 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383509509 rs1274225503 |
222 | W>L | No |
ClinGen gnomAD |
|
| COSM270544 | 223 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6403711 rs748853071 |
224 | Q>* | No |
ClinGen ExAC |
|
|
rs1282064425 CA383509434 |
226 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA383509436 rs1282064425 |
226 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA383509405 rs1365311849 |
228 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA383509382 rs1296175184 |
230 | S>N | No |
ClinGen gnomAD |
|
|
CA383509363 rs1432836165 |
231 | T>N | No |
ClinGen gnomAD |
|
|
rs1591902486 CA383509366 |
231 | T>P | No |
ClinGen Ensembl |
|
|
rs367571869 CA6403708 |
232 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6403706 rs754738949 |
233 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169881617 CA383509300 |
235 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs140912382 CA6403705 |
236 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780485557 CA6403704 |
236 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA232325124 rs374004459 |
237 | C>S | No |
ClinGen ESP |
|
|
CA383509251 rs1591902439 |
238 | H>P | No |
ClinGen Ensembl |
|
|
rs1186700816 CA383509239 |
239 | P>S | No |
ClinGen gnomAD |
|
|
rs1297757585 CA383509181 |
242 | D>E | No |
ClinGen TOPMed |
|
|
CA6403700 rs370654988 |
243 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372100774 CA6403701 |
243 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs372100774 CA6403702 |
243 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6403698 rs137987854 |
244 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383509158 rs137987854 |
244 | E>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6403697 rs761093365 |
246 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA383509097 rs1342374542 |
247 | V>E | No |
ClinGen gnomAD |
|
|
rs1273345423 CA383509085 |
248 | A>T | No |
ClinGen gnomAD |
|
|
rs1225502180 CA383509067 |
249 | L>V | No |
ClinGen gnomAD |
|
| TCGA novel | 251 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383509004 rs1439952441 |
252 | K>E | No |
ClinGen TOPMed |
|
|
CA6403696 rs773979952 |
252 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6403695 rs770617263 |
254 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA383508935 rs1298898586 |
255 | C>Y | No |
ClinGen TOPMed |
|
|
rs1227726415 CA383508844 |
259 | G>R | No |
ClinGen TOPMed |
|
| COSM3872227 | 260 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| rs760130928 | 261 | L>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs769207315 CA6403691 |
262 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1172518956 CA383508781 |
262 | E>G | No |
ClinGen gnomAD |
|
|
CA383508793 rs1396272640 |
262 | E>K | No |
ClinGen gnomAD |
|
|
CA232325049 rs748057326 |
263 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403689 rs145476045 |
264 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145476045 CA6403688 |
264 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383508730 rs1468418538 |
264 | A>V | No |
ClinGen TOPMed |
|
| COSM942334 | 265 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs201450675 CA232325014 |
266 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1250604422 CA383508675 |
266 | P>L | No |
ClinGen gnomAD |
|
|
rs140388695 CA6403687 |
267 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6403686 rs780395497 |
268 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA383508522 rs750697933 |
271 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403682 rs747799959 |
272 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6403683 rs747799959 |
272 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6403680 rs764566111 COSM255688 |
273 | R>Q | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6403679 rs761003216 |
276 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6403678 rs753099465 |
276 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs904991472 CA232324902 |
278 | E>A | No |
ClinGen Ensembl |
|
|
CA6403677 rs767897472 |
278 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383508324 rs1395198370 |
280 | M>T | No |
ClinGen TOPMed |
|
| TCGA novel | 281 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6403675 rs781455398 |
282 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383508243 rs781455398 |
282 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 283 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376461502 CA6403672 |
284 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383508186 rs1382537954 |
285 | W>R | No |
ClinGen TOPMed |
|
|
CA383508118 rs1410139197 |
286 | T>I | No |
ClinGen gnomAD |
|
|
rs1486423717 CA383508102 |
287 | D>H | No |
ClinGen gnomAD |
|
|
CA383508021 rs746977731 |
289 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375397606 CA6403667 |
290 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772006599 CA6403669 |
290 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772006599 CA6403668 |
290 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403666 rs375397606 |
290 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383507997 rs1565853813 |
291 | C>F | No |
ClinGen Ensembl |
|
|
CA383508008 rs1466559078 |
291 | C>G | No |
ClinGen gnomAD |
|
|
rs1309430763 CA383507000 |
293 | P>L | No |
ClinGen gnomAD |
|
|
rs1275509110 CA383506994 |
294 | V>A | No |
ClinGen gnomAD |
|
|
rs770781601 CA6403631 |
295 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA383506974 rs1340753881 COSM1704944 |
296 | P>L | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA383506953 rs1300845509 |
298 | G>A | No |
ClinGen TOPMed |
|
|
RCV000086926 rs267607303 |
299 | M>missing | No |
ClinVar dbSNP |
|
|
CA6403630 rs140911166 |
302 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200097381 CA6403628 |
306 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200097381 CA6403627 |
306 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 306 | S>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs200097381 CA6403626 |
306 | S>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| COSM694867 | 307 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs557379500 CA232323094 |
308 | C>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200615283 CA6403623 |
309 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200615283 CA383506793 |
309 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs758796468 CA6403622 |
309 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA383506767 rs753536993 |
310 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs777628949 CA6403620 |
311 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403619 rs201496129 |
311 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| COSM6137627 | 312 | C>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383506694 rs1488332900 |
313 | Q>* | No |
ClinGen TOPMed |
|
|
CA383506671 rs1433657148 |
314 | S>G | No |
ClinGen gnomAD |
|
|
CA383506652 rs1266431336 |
314 | S>N | No |
ClinGen gnomAD |
|
|
rs752292917 CA6403618 |
318 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs767084830 CA6403617 |
318 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6403616 rs751525114 |
320 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs762870016 CA383506456 |
321 | C>W | No |
ClinGen ExAC gnomAD |
|
|
rs766016814 CA6403615 |
321 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 322 | Q>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 323 | E>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000086928 CA228864 rs61754001 |
324 | R>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA6403613 rs11837584 |
325 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1352009704 CA383506397 |
325 | C>R | No |
ClinGen gnomAD |
|
|
CA383506372 rs1368194560 |
326 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 326 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1368854438 CA383506380 |
326 | V>M | No |
ClinGen TOPMed |
|
| COSM6073209 | 329 | C>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000086929 rs267607304 |
330 | S>missing | No |
ClinVar dbSNP |
|
|
CA6403611 rs140004667 |
331 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780678562 CA383506266 |
332 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA6403609 rs780678562 |
332 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6403590 rs746407466 |
333 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1376970449 CA383506254 |
333 | E>K | No |
ClinGen gnomAD |
|
|
CA383505512 rs1243561912 |
338 | D>V | No |
ClinGen TOPMed |
|
|
CA6403587 rs370201773 |
340 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6403588 rs370201773 |
340 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780960745 CA383505438 |
342 | C>* | No |
ClinGen ExAC TOPMed |
|
|
CA6403582 rs779463835 |
343 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6403584 rs746575545 |
343 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746575545 CA6403583 |
343 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000986057 CA6403580 rs111971143 |
346 | T>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs757111785 CA6403578 |
347 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6403575 rs760642864 |
352 | H>R | No |
ClinGen ExAC gnomAD |
|
|
COSM4150294 rs1024151920 CA383505294 |
353 | S>C | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA383505300 rs1455431103 |
353 | S>P | No |
ClinGen gnomAD |
|
|
rs1024151920 CA232321943 |
353 | S>Y | No |
ClinGen TOPMed |
|
| COSM6137628 | 354 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6403571 rs775002681 |
354 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs760061887 CA6403572 |
354 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383505279 rs1370050087 |
355 | K>T | No |
ClinGen gnomAD |
|
|
COSM1735026 CA6403570 rs771413750 |
356 | R>C | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs377580592 CA6403569 |
356 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1450677715 CA383505245 |
358 | P>L | No |
ClinGen gnomAD |
|
|
COSM106793 CA232321894 rs146154234 |
359 | P>S | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs199570108 CA383505233 |
360 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM4044040 | 360 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs199570108 CA6403567 |
360 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746666406 CA6403566 |
361 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1591900254 CA383505223 |
361 | T>P | No |
ClinGen Ensembl |
|
|
CA6403565 rs779561353 |
363 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6403564 rs373521756 |
364 | S>F | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1289020576 CA383505183 |
365 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1289020576 CA383505187 |
365 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA383505171 rs745805859 |
366 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232321873 rs1002720658 |
366 | D>G | No |
ClinGen gnomAD |
|
|
CA6403561 rs370984009 |
369 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 370 | C>L | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6403559 rs763827767 |
370 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1472685902 CA383505086 |
371 | I>V | No |
ClinGen gnomAD |
|
|
rs62643625 RCV000086559 CA228261 |
373 | R>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs78516266 CA6403538 |
373 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78516266 CA383505071 |
373 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs78516266 CA6403537 |
373 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403535 rs201185151 |
374 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1321160729 CA383505042 |
377 | W>L | No |
ClinGen gnomAD |
|
|
rs763461692 CA6403534 |
379 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403533 rs750901816 |
380 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6403532 rs765633902 |
382 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1227349336 CA383505002 |
383 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1356843352 CA383505000 |
383 | E>G | No |
ClinGen gnomAD |
|
|
rs762146804 CA6403531 |
384 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs775101417 CA6403530 |
384 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| COSM3872225 | 385 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383504983 rs1252096855 |
386 | G>R | No |
ClinGen TOPMed |
|
|
CA6403504 rs367556535 |
386 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6403503 rs768578418 |
387 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1240100361 CA383503541 |
390 | V>I | No |
ClinGen gnomAD |
|
|
rs765582225 CA232314849 |
393 | Q>E | No |
ClinGen Ensembl |
|
|
CA383503378 rs1402782763 |
395 | H>N | No |
ClinGen TOPMed |
|
|
CA232314825 rs780724123 |
396 | F>L | No |
ClinGen gnomAD |
|
|
rs745975177 CA6403499 |
397 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 398 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1434923750 CA383503290 |
398 | S>T | No |
ClinGen gnomAD |
|
|
rs1438233482 CA383503127 |
405 | T>A | No |
ClinGen gnomAD |
|
|
CA383503128 rs1438233482 |
405 | T>P | No |
ClinGen gnomAD |
|
|
rs1350078273 CA383503095 |
407 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
rs201306785 CA232314823 |
408 | G>R | No |
ClinGen 1000Genomes TOPMed |
|
| TCGA novel | 410 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6403497 rs757658534 |
411 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA383503008 rs1422205069 |
412 | Y>C | No |
ClinGen gnomAD |
|
|
CA232314801 rs934491089 COSM1363514 |
413 | L>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs375451251 CA6403494 |
414 | L>M | No |
ClinGen ESP ExAC TOPMed |
|
|
CA232314790 rs549641611 |
415 | A>V | No |
ClinGen Ensembl |
|
|
rs137950753 CA232314783 COSM3464099 |
416 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP NCI-TCGA gnomAD |
|
CA6403493 rs185908682 |
416 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201379649 CA232314778 |
419 | Q>* | No |
ClinGen 1000Genomes |
|
|
CA6403492 rs751199609 |
421 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1488965491 CA383502870 |
421 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs765997490 CA6403491 |
422 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1260267611 CA383502757 |
425 | I>V | No |
ClinGen TOPMed |
|
|
rs61754007 CA228267 RCV000086562 |
427 | I>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs61754007 CA6403490 |
427 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403489 rs370628384 |
428 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383502639 rs1228345297 |
429 | T>A | No |
ClinGen gnomAD |
|
|
RCV000760107 CA383502624 rs764823369 |
429 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6403488 rs764823369 |
429 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383502586 rs552315432 |
431 | Q>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6403487 rs552315432 |
431 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA232314138 rs779213804 |
432 | C>F | No |
ClinGen Ensembl |
|
|
rs1591895396 CA383502299 |
435 | D>A | No |
ClinGen Ensembl |
|
|
RCV001284252 CA6403458 rs145443126 |
436 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs770245302 CA6403457 |
436 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs374722386 CA232314110 |
437 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383502266 rs375486035 COSM1990494 |
437 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
CA6403455 rs375486035 |
437 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267607305 RCV000086563 |
437 | D>missing | No |
ClinVar dbSNP |
|
|
rs756620872 CA6403453 |
438 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs948343939 CA232314094 |
439 | V>E | No |
ClinGen TOPMed |
|
|
rs979801293 CA232314100 |
439 | V>M | No |
ClinGen Ensembl |
|
|
CA383501724 rs372938917 |
440 | C>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372938917 CA6403452 |
440 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383501719 rs1334521989 |
441 | T>A | No |
ClinGen gnomAD |
|
|
rs1334521989 CA383501717 |
441 | T>P | No |
ClinGen gnomAD |
|
|
CA6403451 rs148247755 RCV000994820 |
442 | R>C | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs199665748 CA6403450 |
442 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM3464098 | 443 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6403449 RCV000319239 rs149116506 |
444 | V>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs752687986 CA383501682 |
445 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM3464097 | 445 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6403448 rs752687986 |
445 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383501680 rs1254288235 |
445 | T>S | No |
ClinGen TOPMed |
|
|
rs767209816 CA6403447 |
446 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6403444 rs771179169 |
447 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403445 rs372495746 |
447 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6403443 rs377243998 |
448 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383501647 rs1202027696 |
449 | P>R | No |
ClinGen TOPMed |
|
| TCGA novel | 449 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs773227284 CA6403442 |
452 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs748534787 CA6403440 |
454 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246069621 CA383501599 |
454 | S>N | No |
ClinGen gnomAD |
|
|
rs781753473 CA6403438 |
455 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA383501564 rs1591895248 |
457 | K>T | No |
ClinGen Ensembl |
|
|
rs1230440100 CA383501481 |
463 | G>A | No |
ClinGen gnomAD |
|
|
rs372738366 CA6403437 |
465 | A>P | No |
ClinGen ESP ExAC |
|
|
rs780597852 CA6403435 |
466 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs201345218 CA232313859 |
466 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA383501383 rs1393138003 |
469 | Q>R | No |
ClinGen gnomAD |
|
|
CA383501360 rs111867665 |
470 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1383388529 CA383501347 |
471 | V>A | No |
ClinGen gnomAD |
|
|
CA383501309 rs1591895193 |
473 | L>P | No |
ClinGen Ensembl |
|
|
CA383501273 rs751311885 |
475 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs751311885 CA6403427 |
475 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6403426 rs766183710 |
476 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA6403404 rs761973219 |
478 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403425 rs763102998 |
478 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA383501206 rs763102998 |
478 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs764099274 CA6403402 |
479 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403403 rs776723859 |
479 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA383500925 rs1443005850 |
480 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1443005850 CA383500921 |
480 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA383500931 rs1450413754 |
480 | L>V | No |
ClinGen TOPMed |
|
|
rs186112213 CA6403400 |
481 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6403399 rs772554807 |
481 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs569669757 CA6403398 |
482 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383500882 rs1469007988 |
483 | Q>R | No |
ClinGen gnomAD |
|
|
rs1800378 CA6403396 |
484 | H>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs199771680 CA6403397 |
484 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403394 rs147913451 |
484 | H>Q | No |
ClinGen ESP ExAC TOPMed |
|
|
CA232312950 rs199771680 |
484 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372734168 CA232312933 |
486 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs372734168 CA6403393 |
486 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6403392 rs535991479 |
487 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6403391 rs780016761 |
487 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1202791545 CA383500790 |
488 | A>T | No |
ClinGen gnomAD |
|
|
COSM942333 rs757446283 CA6403387 |
490 | V>M | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM5841666 rs372904370 CA232312899 |
491 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP NCI-TCGA gnomAD |
|
rs553537150 CA6403385 |
491 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383500680 rs1336547641 |
493 | S>G | No |
ClinGen gnomAD |
|
| COSM694868 | 493 | S>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1391201211 CA383500644 |
494 | Y>C | No |
ClinGen gnomAD |
|
|
CA6403382 RCV000420928 rs369852695 |
495 | G>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs768176218 CA6403381 |
495 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs760147730 CA6403380 |
496 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs1446441820 CA383500580 |
497 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA6403378 rs771212649 |
500 | M>T | No |
ClinGen ExAC TOPMed |
|
|
CA383500498 rs1182851994 |
501 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 503 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761461711 CA6403377 |
503 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA383500455 rs1249623519 |
504 | G>C | No |
ClinGen gnomAD |
|
|
CA383500459 rs1249623519 |
504 | G>S | No |
ClinGen gnomAD |
|
|
CA6403376 rs776211220 |
505 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771947987 CA6403372 |
506 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs201456647 CA232312858 CA6403373 |
506 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6403371 rs189409574 |
507 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 507 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1289794324 CA383500379 |
510 | V>M | No |
ClinGen gnomAD |
|
|
CA383498408 rs1376757047 |
512 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1011342804 CA232310764 |
512 | L>V | No |
ClinGen Ensembl |
|
|
rs1565847540 CA383498405 |
513 | S>A | No |
ClinGen Ensembl |
|
|
CA383498404 rs1402542705 |
513 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1402542705 CA383498403 |
513 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA232310760 rs914503124 |
514 | P>A | No |
ClinGen TOPMed |
|
| COSM3464096 | 514 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA232310757 rs867631561 |
515 | V>I | No |
ClinGen Ensembl |
|
|
rs1800379 CA383498385 RCV000760112 |
516 | Y>* | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA383498386 rs1397434734 |
516 | Y>F | No |
ClinGen TOPMed |
|
|
CA383498377 rs767005834 |
518 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767005834 CA6403340 |
518 | G>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs148591481 RCV000507666 CA6403339 |
521 | C>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA232310729 rs772428931 |
524 | C>Y | No |
ClinGen Ensembl |
|
|
RCV000086568 CA228277 rs267607306 |
525 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1420962761 CA383498313 |
527 | Y>* | No |
ClinGen gnomAD |
|
|
rs1251285196 CA383498311 |
528 | N>D | No |
ClinGen gnomAD |
|
|
CA383498300 rs1479932155 |
529 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV000593106 CA383498298 rs1555198437 |
530 | N>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs769713195 CA383498293 CA6403335 RCV000489280 |
530 | N>K | No |
ClinGen ExAC gnomAD ClinVar dbSNP |
|
|
CA383498295 rs1204708344 |
530 | N>S | No |
ClinGen gnomAD |
|
|
rs1484982165 CA383498290 |
531 | Q>* | No |
ClinGen TOPMed |
|
|
rs200291678 CA232310706 |
532 | G>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs200291678 CA383498284 |
532 | G>S | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA383498272 rs1182156724 |
533 | D>E | No |
ClinGen TOPMed |
|
| COSM3872224 | 533 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM942332 | 534 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6403332 rs377501452 |
536 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747097782 CA6403331 |
537 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs878892980 CA232310687 |
537 | T>P | No |
ClinGen Ensembl |
|
|
CA6403328 rs139196998 |
538 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000986060 CA6403326 rs139196998 |
538 | P>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6403327 rs139196998 |
538 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6403329 rs758774591 |
538 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM3987126 | 539 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6403323 rs767200162 |
539 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383498244 rs1249758434 |
539 | S>T | No |
ClinGen gnomAD |
|
|
rs1364511255 CA383498239 |
540 | G>R | No |
ClinGen gnomAD |
|
|
rs765922774 CA6403320 |
542 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141649383 CA232310640 |
542 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs761746851 CA6403316 |
544 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1241627827 CA383498215 |
544 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1241627827 CA383498217 RCV000760114 |
544 | P>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1486623931 CA383498211 |
545 | R>G | No |
ClinGen gnomAD |
|
|
CA6403315 rs776960730 |
545 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA232310616 rs903303077 |
546 | V>A | No |
ClinGen TOPMed |
|
|
CA6403313 rs747270990 |
546 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1381798843 CA383498169 |
551 | N>K | No |
ClinGen gnomAD |
|
|
rs779932077 CA383498166 |
552 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779932077 CA6403312 COSM1476808 |
552 | A>T | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1384177579 CA383498163 |
552 | A>V | No |
ClinGen gnomAD |
|
|
RCV000086571 rs267607307 |
553 | W>missing | No |
ClinVar dbSNP |
|
|
CA6403311 rs772261688 |
554 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779449782 CA6403310 |
555 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232310589 COSM4899638 rs916726587 |
557 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA |
|
rs1444535183 CA383498129 |
558 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA383498127 rs1444535183 |
558 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA232310581 rs912452327 |
559 | C>S | No |
ClinGen TOPMed |
|
|
rs754526458 CA6403305 RCV000759381 |
560 | Q>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA6403304 rs376162697 |
561 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6403303 rs376162697 |
561 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1262007640 CA383498075 |
562 | L>M | No |
ClinGen gnomAD |
|
| COSM3464094 | 564 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6403302 rs762581251 |
564 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6403301 rs750364485 |
565 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1050981582 CA232310560 |
566 | H>R | No |
ClinGen TOPMed |
|
|
CA383498003 rs1223200932 |
567 | S>C | No |
ClinGen gnomAD |
|
|
CA232310558 rs992461922 |
567 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA383497988 rs1322647015 |
568 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs765304952 CA6403299 |
569 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA228280 RCV000086572 rs61754013 |
570 | C>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6403298 rs761871643 |
571 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 571 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1565847355 CA383497922 |
571 | A>V | No |
ClinGen Ensembl |
|
|
rs768503443 CA6403296 |
575 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383497848 rs768503443 |
575 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM6073210 | 576 | M>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs759780661 CA6403273 |
577 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA6403272 rs774353488 |
580 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs749787965 CA383497541 |
581 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383497561 rs1206640514 |
581 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA6403269 rs773824205 |
583 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383497520 rs1407217551 |
583 | A>T | No |
ClinGen gnomAD |
|
|
CA383497509 rs773824205 |
583 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758074950 CA6403265 |
585 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs141777100 RCV001284254 CA6403266 |
585 | A>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1363168211 CA383497426 |
588 | T>K | No |
ClinGen gnomAD |
|
|
rs1363168211 CA383497420 |
588 | T>M | No |
ClinGen gnomAD |
|
| TCGA novel | 593 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232310157 rs868839018 |
595 | C>F | No |
ClinGen TOPMed |
|
|
CA383497297 rs868839018 |
595 | C>Y | No |
ClinGen TOPMed |
|
|
rs756887965 CA6403263 |
597 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756887965 CA383497269 |
597 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756040607 CA6403260 |
599 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383497246 rs756040607 COSM1363507 |
599 | V>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA6403259 rs752491954 |
600 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA383497229 rs1307718211 |
600 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA383497218 rs1384023992 |
601 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1341283023 CA383497198 |
603 | P>L | No |
ClinGen TOPMed |
|
|
rs759684646 CA6403257 |
604 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1319814107 CA383497181 |
605 | L>V | No |
ClinGen gnomAD |
|
|
CA232310143 rs759819747 |
606 | R>W | No |
ClinGen gnomAD |
|
|
rs1446348219 CA383497135 |
609 | R>C | No |
ClinGen gnomAD |
|
| TCGA novel | 609 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232310135 rs1056962966 |
609 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
RCV000086577 CA228289 rs61754015 |
610 | Y>* | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1181065227 CA383497121 |
610 | Y>F | No |
ClinGen gnomAD |
|
|
rs1327495128 CA383497115 |
611 | D>Y | No |
ClinGen gnomAD |
|
|
CA6403253 CA383497105 rs562188657 |
612 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383497106 rs562188657 |
612 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs985631118 CA232310126 |
613 | C>G | No |
ClinGen TOPMed |
|
|
rs776987924 CA6403251 |
614 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA383497077 rs1198498097 |
615 | C>R | No |
ClinGen TOPMed |
|
|
CA383497055 rs1225435169 |
616 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1291576203 CA383497042 |
617 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1335888900 CA383497050 |
617 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA232310118 rs922706729 |
619 | R>C | No |
ClinGen TOPMed |
|
|
CA232310116 rs902690502 |
619 | R>H | No |
ClinGen Ensembl |
|
|
RCV000086578 CA228291 rs61754016 |
620 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA232310113 rs61754016 |
620 | E>Q | No |
ClinGen Ensembl |
|
|
rs886049744 CA383497020 |
621 | C>F | No |
ClinGen gnomAD |
|
|
RCV000086579 rs61754017 CA228293 |
623 | C>W | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs756800153 CA6403246 |
624 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs61754018 RCV000086580 |
624 | G>missing | No |
ClinVar dbSNP |
|
|
CA6403247 rs542226383 RCV003117544 RCV000759384 |
624 | G>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA232310101 rs972740801 |
627 | A>D | No |
ClinGen TOPMed |
|
|
rs1269483390 CA383496962 |
631 | A>T | No |
ClinGen TOPMed |
|
|
CA6403245 RCV000478268 RCV001800702 rs199963222 |
631 | A>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6403244 rs777174824 |
632 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs915477489 CA232310091 |
632 | A>V | No |
ClinGen TOPMed |
|
|
CA383496944 rs1187357286 |
634 | A>T | No |
ClinGen gnomAD |
|
|
RCV000851723 RCV001284255 rs761282513 CA6403243 |
634 | A>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA232310080 rs546850070 |
639 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1005399170 CA232310077 |
640 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383496905 rs1274115577 |
641 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
RCV000086583 rs61754666 CA228300 |
642 | W>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA383496891 rs1385309544 |
643 | R>C | No |
ClinGen TOPMed |
|
|
CA383496888 rs1457006758 |
643 | R>H | No |
ClinGen TOPMed |
|
|
CA383496887 rs61748460 |
644 | E>K | No |
ClinGen gnomAD |
|
|
CA383496886 rs61748460 |
644 | E>Q | No |
ClinGen gnomAD |
|
|
CA383496879 rs1345532406 |
645 | P>A | No |
ClinGen gnomAD |
|
|
rs976240876 CA232310069 |
647 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs976240876 CA232310072 |
647 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs762909392 CA232310066 |
647 | R>H | No |
ClinGen TOPMed |
|
|
CA383495585 rs1293661861 |
652 | C>G | No |
ClinGen TOPMed |
|
|
CA383495579 rs1438247325 |
652 | C>Y | No |
ClinGen gnomAD |
|
|
rs11064012 CA6403217 |
653 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000507138 CA6403214 rs750678981 |
655 | G>D | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA232308627 rs1015287607 |
656 | Q>* | No |
ClinGen Ensembl |
|
|
CA6403212 rs527703280 |
656 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6403211 rs754367354 |
657 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA6403210 rs764659038 |
658 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs972259250 CA232308618 |
659 | L>R | No |
ClinGen TOPMed |
|
|
CA383495437 rs1453727896 |
659 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1401763967 CA383495408 |
661 | C>G | No |
ClinGen gnomAD |
|
|
rs1401763967 CA383495411 RCV000759386 |
661 | C>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs772573308 CA6403207 |
662 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403205 rs772793595 |
663 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6403206 rs762658939 |
663 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs202186148 CA6403204 |
664 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383495345 rs1387523104 |
665 | C>Y | No |
ClinGen gnomAD |
|
|
CA6403202 rs780709880 |
666 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA383495302 rs1179705140 |
667 | L>P | No |
ClinGen gnomAD |
|
|
CA6403201 rs201886182 |
668 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA6403200 rs746961815 |
670 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000994815 rs1022679972 COSM1990478 CA383495250 |
670 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1022679972 CA232308592 |
670 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383495257 rs746961815 |
670 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383495239 rs1245250442 |
671 | S>A | No |
ClinGen gnomAD |
|
|
rs1339589150 CA383495235 |
671 | S>C | No |
ClinGen gnomAD |
|
|
CA383495241 rs1245250442 |
671 | S>P | No |
ClinGen gnomAD |
|
|
rs1384094650 CA383495226 |
672 | L>I | No |
ClinGen gnomAD |
|
|
RCV000086586 rs61748462 |
673 | S>missing | No |
ClinVar dbSNP |
|
|
rs758185902 CA6403198 |
674 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200087139 CA6403197 |
675 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772709356 CA232308570 |
676 | D>G | No |
ClinGen gnomAD |
|
|
rs267603620 CA232308567 |
678 | E>K | No |
ClinGen Ensembl |
|
|
rs1457741631 CA383495081 |
679 | C>Y | No |
ClinGen gnomAD |
|
|
rs1367049080 CA383495056 |
680 | N>S | No |
ClinGen gnomAD |
|
|
rs757532502 CA6403195 |
681 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs753922791 CA6403194 |
682 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs764286793 CA6403193 |
683 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA383494973 rs1486984569 |
684 | L>R | No |
ClinGen gnomAD |
|
|
rs759864277 CA6403189 |
688 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA6403188 rs764755360 |
689 | C>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267607309 RCV000086587 |
691 | P>missing | No |
ClinVar dbSNP |
|
|
rs768159207 CA6403184 |
691 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
COSM1242994 rs267607309 |
691 | P>Q | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
CA383494842 rs199623726 |
691 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1398231658 CA383494827 |
692 | G>R | No |
ClinGen gnomAD |
|
|
rs771871090 CA6403181 |
694 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565844846 COSM3464093 CA383494741 |
695 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA |
|
rs1389091775 CA383494751 |
695 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA383494714 rs1300253081 |
696 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1300253081 CA383494711 |
696 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
COSM3464092 rs745612376 CA6403180 |
698 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs778794495 CA6403179 |
699 | G>E | No |
ClinGen ExAC |
|
|
rs1591886442 CA383494641 |
700 | D>G | No |
ClinGen Ensembl |
|
|
rs377672051 CA6403178 |
700 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 700 | D>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377672051 RCV001001187 CA6403177 |
700 | D>Y | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs78995469 CA6403176 |
701 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs767946240 CA6403174 CA383494618 |
702 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM4805098 RCV000489817 rs767946240 CA6403173 |
702 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6403171 rs377240952 |
703 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377240952 CA6403172 |
703 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1261567513 CA383494604 |
703 | P>S | No |
ClinGen TOPMed |
|
|
CA6403169 rs761387526 |
705 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383494568 rs1197326218 |
705 | A>V | No |
ClinGen gnomAD |
|
|
CA383494523 rs1457991100 |
708 | P>A | No |
ClinGen gnomAD |
|
|
CA383494517 rs1448783833 |
708 | P>L | No |
ClinGen Ensembl |
|
|
CA383494521 rs1457991100 |
708 | P>S | No |
ClinGen gnomAD |
|
|
rs1216992284 CA383494513 |
709 | C>Y | No |
ClinGen gnomAD |
|
|
CA232308498 rs867607966 |
711 | Y>* | No |
ClinGen Ensembl |
|
|
rs1428093142 CA383494480 |
711 | Y>F | No |
ClinGen gnomAD |
|
|
CA6403168 rs372280803 |
712 | D>N | No |
ClinGen ESP ExAC |
|
|
rs760218536 CA6403166 |
713 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418751948 COSM1676658 CA383494444 |
713 | G>S | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed |
| COSM1299747 | 715 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6403165 rs771858185 |
716 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000986064 rs771858185 CA6403164 |
716 | F>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| COSM3464091 | 719 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1378473757 CA383494304 |
720 | D>E | No |
ClinGen TOPMed |
|
|
rs745833693 CA6403163 |
720 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA6403162 rs773954330 |
722 | F>V | No |
ClinGen ExAC gnomAD |
|
|
COSM1704942 CA232308478 rs1050503662 |
723 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1448001886 CA383494240 |
724 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs770830710 CA6403161 |
725 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs369273301 CA232308472 |
726 | H>Y | No |
ClinGen ESP TOPMed |
|
|
rs1330300378 CA383494162 |
727 | T>S | No |
ClinGen gnomAD |
|
|
CA383494137 rs1407720910 |
728 | M>I | No |
ClinGen gnomAD |
|
|
CA6403160 rs749503392 |
728 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1218047489 CA383523508 |
731 | C>F | No |
ClinGen gnomAD |
|
|
rs770089534 CA6403141 |
732 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1284406532 CA383523470 |
735 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs149168790 CA232300634 |
736 | M>T | No |
ClinGen ESP gnomAD |
|
|
rs1248628444 COSM248308 CA383523462 |
736 | M>V | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs748413451 CA6403140 |
737 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403139 rs781064814 |
740 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA383523433 rs1187711769 |
740 | M>V | No |
ClinGen TOPMed |
|
|
rs1299487140 CA383523424 |
741 | S>N | No |
ClinGen gnomAD |
|
|
rs1591882362 CA383523412 |
743 | V>I | No |
ClinGen Ensembl |
|
|
CA6403137 rs367811486 |
745 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6403135 rs765691813 |
750 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1565842575 CA383523369 |
750 | D>H | No |
ClinGen Ensembl |
|
|
CA383523363 rs1406902030 |
751 | A>T | No |
ClinGen gnomAD |
|
|
CA383523329 rs1324975118 |
754 | S>G | No |
ClinGen TOPMed |
|
|
CA6403133 rs755699566 |
755 | S>I | No |
ClinGen ExAC gnomAD |
|
|
CA6403132 rs752465256 |
756 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA383523299 rs1265499224 |
756 | P>S | No |
ClinGen gnomAD |
|
|
CA232300633 rs928452293 |
757 | L>P | No |
ClinGen Ensembl |
|
|
rs540645545 CA6403131 |
757 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6403130 rs759131281 |
758 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403129 rs751417437 |
758 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1289593973 CA383523270 |
759 | H>Y | No |
ClinGen gnomAD |
|
|
CA6403110 rs77853528 |
761 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
RCV000086596 CA228318 rs267607310 |
762 | K>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000086597 CA228320 rs61748469 |
763 | R>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1189937384 CA383522628 |
763 | R>K | No |
ClinGen gnomAD |
|
| COSM3464090 | 763 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 764 | S>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6403109 rs761717107 |
764 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776321440 CA6403108 |
764 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA383522532 rs1175840784 |
767 | C>Y | No |
ClinGen TOPMed |
|
|
rs775479826 CA6403105 |
768 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA383522498 rs1277852868 |
769 | P>H | No |
ClinGen gnomAD |
|
| COSM3464089 | 769 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6403103 rs143145764 |
769 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6403102 rs143145764 |
769 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6403101 rs149051646 |
770 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61748470 RCV000086598 CA228322 |
771 | M>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs199588249 CA6403099 |
771 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1212894308 CA383522481 |
771 | M>V | No |
ClinGen gnomAD |
|
|
COSM4740715 rs776747320 |
771 | M>W | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
rs1053973832 CA383522451 |
772 | V>A | No |
ClinGen TOPMed |
|
|
rs1053973832 CA232300404 |
772 | V>G | No |
ClinGen TOPMed |
|
|
CA6403098 rs778023824 |
773 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA383522410 rs1260986068 |
775 | V>A | No |
ClinGen TOPMed |
|
|
CA383522419 rs1374965841 |
775 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs146892641 CA383522363 |
778 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000508225 rs146892641 CA6403096 |
778 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA383522357 rs1358608091 |
778 | A>V | No |
ClinGen gnomAD |
|
|
rs779708332 CA6403095 |
779 | D>G | No |
ClinGen ExAC gnomAD |
|
|
RCV000759388 RCV001816814 rs143904314 CA6403094 |
780 | N>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs756566834 CA232300403 |
780 | N>S | No |
ClinGen TOPMed |
|
|
rs756566834 CA383522326 |
780 | N>T | No |
ClinGen TOPMed |
|
|
rs61748472 CA6403092 |
782 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61748472 RCV000086600 CA228326 |
782 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs61748471 RCV002281923 RCV000086599 CA228324 |
782 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1247993965 CA383522277 |
784 | E>K | No |
ClinGen gnomAD |
|
|
RCV000086601 CA228328 rs61748473 |
785 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA228330 rs61748474 RCV000086602 |
787 | E>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA228332 RCV000086603 rs61748475 |
788 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA228336 RCV000086605 rs1063856 |
789 | T>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA383522145 rs1565841707 RCV000759389 |
790 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6403089 rs767559740 |
791 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1407663422 CA383522110 |
793 | Q>R | No |
ClinGen TOPMed |
|
|
CA6403088 rs759648147 |
794 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763386439 CA6403085 |
796 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403086 rs771423537 |
796 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383522061 rs1219013109 |
797 | L>R | No |
ClinGen TOPMed |
|
|
rs954273691 CA232300402 |
799 | C>Y | No |
ClinGen TOPMed |
|
|
CA6403083 rs61748479 |
800 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1028377754 CA232300400 |
800 | M>T | No |
ClinGen TOPMed |
|
|
CA228338 RCV000086608 rs61748479 |
800 | M>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA383522012 rs1361735958 |
802 | M>L | No |
ClinGen gnomAD |
|
|
rs1292090820 CA383522008 |
802 | M>T | No |
ClinGen TOPMed |
|
|
rs1158509169 CA383521993 |
803 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA383521972 rs1418273953 |
805 | V>I | No |
ClinGen gnomAD |
|
|
rs1565841678 CA383521952 |
806 | S>F | No |
ClinGen Ensembl |
|
|
COSM4769847 CA383521896 rs1478975030 |
811 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed |
|
rs779902513 CA6403081 |
811 | P>S | No |
ClinGen ExAC gnomAD |
|
|
RCV000086610 rs62643631 RCV000851751 RCV002222387 COSM1293497 CA228340 |
812 | P>L | cervix [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA383521886 rs62643631 |
812 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM5547528 rs62643632 |
812 | P>R | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
CA6403078 rs778299428 |
813 | G>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000759390 rs62643632 |
814 | M>missing | No |
ClinVar dbSNP |
|
|
rs62643632 COSM1990469 |
814 | M>H | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic NCI-TCGA |
|
CA232300398 rs753783777 |
814 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403075 rs753783777 |
814 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777607730 CA6403058 |
815 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs62643634 RCV000852085 RCV000086614 CA228343 |
816 | R>Q | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA6403057 rs752443680 |
817 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA383520478 rs1314686139 |
818 | E>G | No |
ClinGen TOPMed |
|
|
rs368825064 RCV000759392 CA6403055 |
826 | R>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs374958989 CA6403054 |
826 | R>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368825064 CA383520424 |
826 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1285074430 CA383520411 |
828 | P>S | No |
ClinGen gnomAD |
|
|
rs750911635 CA6403052 |
830 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383520395 rs1289549922 |
830 | F>S | No |
ClinGen TOPMed |
|
|
rs1250869827 CA383520389 |
831 | H>R | No |
ClinGen TOPMed gnomAD |
|
| COSM1363506 | 833 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6403051 rs151048762 |
833 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 834 | K>M | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1365536987 CA383520363 |
835 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
RCV001284256 CA6403049 rs75645183 |
837 | A>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs561063693 CA6403050 |
837 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs75645183 CA232299462 |
837 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149520234 CA6403048 |
838 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1185130206 CA383520344 |
838 | P>S | No |
ClinGen TOPMed |
|
|
rs1373658393 CA383520339 |
839 | G>R | No |
ClinGen TOPMed gnomAD |
|
| COSM942330 | 840 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1364274607 CA383520321 |
841 | T>R | No |
ClinGen TOPMed |
|
|
CA6403046 RCV000507385 rs773921894 |
842 | V>E | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6403047 rs759248794 |
842 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1311903183 CA383520309 |
843 | K>N | No |
ClinGen gnomAD |
|
|
CA383520312 rs1023013245 |
843 | K>R | No |
ClinGen gnomAD |
|
|
CA232299461 rs1023013245 |
843 | K>T | No |
ClinGen gnomAD |
|
|
rs1448624351 CA383520306 |
844 | I>F | No |
ClinGen gnomAD |
|
|
CA383520297 rs1377189930 |
845 | G>D | No |
ClinGen gnomAD |
|
|
rs200106723 CA6403045 |
846 | C>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs267607311 RCV000086618 |
847 | N>missing | No |
ClinVar dbSNP |
|
|
rs748704250 COSM1664976 CA6403044 |
847 | N>S | kidney [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA6403043 rs772796741 |
849 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs772534075 CA6403023 |
852 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000507141 rs216321 |
852 | Q>= | No |
ClinVar dbSNP |
|
|
rs772534075 CA6403024 |
852 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383520241 rs216321 |
852 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6403022 VAR_005788 rs216321 |
852 | Q>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs768410690 CA6403021 |
856 | W>C | No |
ClinGen ExAC gnomAD |
|
| VAR_005790 | 857 | N>D | No | UniProt | |
|
RCV000086621 rs61748484 CA228353 |
858 | C>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs184227165 CA232299278 |
858 | C>W | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs371017187 CA6403019 COSM4932385 |
859 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs900547220 CA232299277 |
861 | H>R | No |
ClinGen Ensembl |
|
|
rs1185601519 CA383520183 COSM5541671 |
861 | H>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed |
|
rs1365748921 CA383520176 |
862 | V>M | No |
ClinGen TOPMed |
|
|
rs1344449213 CA383520166 |
863 | C>F | No |
ClinGen gnomAD |
|
|
rs754363142 CA383520158 |
864 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6403015 rs146405753 |
864 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383520145 rs1391742837 |
866 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA232299276 rs376980353 |
868 | S>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6403011 rs376980353 |
868 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767931609 CA6403010 |
869 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1195095761 CA383520128 |
869 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
CA6403007 rs148122508 |
871 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761354900 CA6403006 |
872 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA383520097 rs1212649640 |
874 | H>R | No |
ClinGen gnomAD |
|
|
CA383520099 rs1290188590 |
874 | H>Y | No |
ClinGen gnomAD |
|
|
CA6403005 rs143762054 |
876 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1204065077 CA383520083 |
876 | L>H | No |
ClinGen TOPMed |
|
|
CA6403003 rs148969007 |
878 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000086623 CA228357 rs61748485 |
879 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6403001 rs771958869 |
880 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs61748486 RCV000086624 |
881 | L>missing | No |
ClinVar dbSNP |
|
|
CA383520054 rs746053613 |
881 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA6402999 rs779314631 |
881 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6403000 rs746053613 |
881 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA383520036 rs1171471119 |
883 | Y>* | No |
ClinGen gnomAD |
|
| COSM1990464 | 884 | L>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs146850658 CA6402998 |
884 | L>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383520025 rs1478584971 |
885 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760242174 CA6402996 |
885 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_057025 rs11064002 CA232299274 |
885 | F>S | No |
ClinGen UniProt Ensembl dbSNP |
|
|
rs760242174 CA383520030 |
885 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141451322 CA232299273 |
886 | P>S | No |
ClinGen Ensembl |
|
|
rs756515188 CA6402995 |
887 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs373780244 CA232299272 |
888 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA6402994 rs753317915 |
891 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs201072235 CA6402993 |
892 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA232298867 rs1022033438 |
896 | D>Y | No |
ClinGen TOPMed |
|
|
CA383518173 rs1239647717 |
897 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 898 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6402975 rs142135013 |
899 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6402972 rs780411422 |
900 | S>G | No |
ClinGen ExAC gnomAD |
|
| COSM4931794 | 900 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs753545906 CA6402970 |
901 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs763488500 CA6402969 |
902 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1591871850 CA383517959 |
904 | T>N | No |
ClinGen Ensembl |
|
|
rs542975251 CA6402966 |
906 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs542975251 CA6402965 |
906 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6402967 rs752176819 |
906 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383517904 rs1199238081 |
909 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 911 | N>I | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000086628 rs61748490 |
912 | K>missing | No |
ClinVar dbSNP |
|
|
rs773534134 CA6402961 |
912 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1311544944 CA383517814 |
913 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA232298866 rs1051182051 |
914 | C>Y | No |
ClinGen TOPMed |
|
|
RCV000986067 rs776598010 CA6402958 |
915 | S>N | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA383517774 rs1376791036 |
917 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA383517777 rs1173895132 |
917 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 918 | S>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM3688386 rs1172210024 CA383517763 |
919 | V>A | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA383517749 rs1159440161 |
921 | C>Y | No |
ClinGen gnomAD |
|
|
CA6402957 rs769093954 |
923 | K>R | No |
ClinGen ExAC gnomAD |
|
|
COSM5481081 rs61748491 CA228366 RCV000086631 |
924 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6402956 rs758811865 |
925 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs376037865 CA232298865 |
929 | V>M | No |
ClinGen ESP |
|
| COSM1299745 | 931 | G>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6402954 rs777440637 |
931 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs755741472 CA6402953 |
932 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA232298864 rs897378328 |
933 | E>D | No |
ClinGen gnomAD |
|
|
rs1447571715 CA383517601 |
934 | I>F | No |
ClinGen TOPMed |
|
|
CA232298863 rs142563352 |
934 | I>T | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1188567730 CA383517578 |
935 | E>D | No |
ClinGen gnomAD |
|
|
CA6402952 rs752191528 |
935 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA383517572 rs1374780362 |
936 | L>V | No |
ClinGen TOPMed |
|
|
CA383517556 rs1443289791 |
937 | F>S | No |
ClinGen TOPMed |
|
|
rs147408448 CA6402950 |
939 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383517513 rs1268610851 |
940 | E>G | No |
ClinGen Ensembl |
|
| COSM942329 | 941 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 945 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3464088 | 946 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs142861582 CA383516674 |
947 | M>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6402920 rs772506779 |
947 | M>R | No |
ClinGen ExAC gnomAD |
|
|
rs142861582 CA6402921 |
947 | M>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs866176159 CA232298645 |
949 | D>N | No |
ClinGen Ensembl |
|
|
CA383516619 rs1565835918 |
950 | E>K | No |
ClinGen Ensembl |
|
|
CA6402919 rs374622681 |
955 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374622681 CA6402918 |
955 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1200616174 CA383516525 |
956 | V>M | No |
ClinGen gnomAD |
|
|
CA383516517 rs1430159488 |
957 | E>K | No |
ClinGen Ensembl |
|
|
rs1430159488 CA383516518 |
957 | E>Q | No |
ClinGen Ensembl |
|
|
CA232298644 rs370984712 |
960 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6402915 rs781033577 |
960 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1304622929 CA383516481 |
963 | I>V | No |
ClinGen gnomAD |
|
|
CA383516462 rs1369807837 |
966 | L>P | No |
ClinGen gnomAD |
|
|
rs149573046 CA232298643 |
967 | G>S | No |
ClinGen ESP TOPMed |
|
|
rs141087261 CA383516451 |
967 | G>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| COSM942328 | 969 | A>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6402911 rs202175420 |
969 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150418484 CA383516376 |
972 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150418484 CA6402908 |
972 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| COSM694870 | 974 | W>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1453506829 CA383516320 |
975 | D>E | No |
ClinGen gnomAD |
|
|
rs1388943262 CA383516334 |
975 | D>N | No |
ClinGen TOPMed |
|
|
rs764251476 CA6402907 |
976 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs181452677 CA6402906 |
976 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| COSM4839456 | 979 | S>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs267607312 CA6402905 |
979 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6402904 rs767647904 |
980 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1484529401 CA383516225 |
981 | S>F | No |
ClinGen gnomAD |
|
|
CA6402902 rs376548659 |
982 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6402901 rs376548659 |
982 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383516207 rs1346125089 |
983 | V>I | No |
ClinGen gnomAD |
|
| COSM942327 | 985 | K>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383516146 rs1300858498 |
987 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 988 | Y>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6402900 rs763191895 |
989 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA383515523 rs1250978697 |
990 | E>K | No |
ClinGen TOPMed |
|
|
rs1320050740 CA383515463 |
992 | V>A | No |
ClinGen gnomAD |
|
| COSM6073211 | 992 | V>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000086636 CA228374 rs61748493 |
996 | C>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM4397974 | 997 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383515349 rs1565834646 |
997 | G>R | No |
ClinGen Ensembl |
|
|
rs1438192210 CA383515336 |
998 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA383515312 rs1369988754 |
998 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1000 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383515243 rs1476253383 |
1001 | G>A | No |
ClinGen gnomAD |
|
|
rs1409407856 CA383515181 |
1003 | Q>H | No |
ClinGen TOPMed |
|
|
rs141477932 CA6402877 |
1003 | Q>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6402876 rs141477932 |
1003 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs367549408 CA6402875 |
1005 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6402874 rs749285654 |
1005 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM3782756 | 1006 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6402872 rs138940478 |
1008 | T>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA6402870 rs374126602 |
1008 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6402871 rs374126602 |
1008 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138940478 CA383515045 |
1008 | T>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1336370766 CA383514996 |
1009 | S>N | No |
ClinGen gnomAD |
|
|
CA6402868 rs751539842 |
1010 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs766485706 CA6402867 |
1010 | S>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1011 | N>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1271808815 CA383514864 |
1012 | L>R | No |
ClinGen gnomAD |
|
| COSM942325 | 1013 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6402866 rs758969074 |
1014 | V>M | No |
ClinGen ExAC TOPMed |
|
|
CA6402865 rs751031390 |
1017 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6402863 rs534377998 |
1018 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6402864 rs765676204 |
1018 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1271236214 CA383514604 |
1019 | V>A | No |
ClinGen TOPMed |
|
|
CA383514522 rs1395402253 |
1023 | N>D | No |
ClinGen gnomAD |
|
|
rs767019732 CA6402861 |
1024 | S>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000086637 rs267607313 |
1025 | W>missing | No |
ClinVar dbSNP |
|
|
CA6402860 rs572012161 |
1029 | S>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6402857 rs762852594 |
1030 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
RCV000986068 rs145125264 RCV002469318 CA6402858 |
1030 | Q>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6402856 rs141412860 |
1031 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383514236 rs531867007 |
1032 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383514233 rs531867007 |
1032 | A>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs531867007 CA6402855 |
1032 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752219725 RCV001284258 |
1033 | D>missing | No |
ClinVar dbSNP |
|
|
rs146648301 CA6402853 |
1035 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383514144 rs1275080001 |
1036 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1038 | P>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1040 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6402831 rs747177751 |
1040 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1375690430 CA383513987 |
1041 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA232298271 rs571875867 |
1042 | S>F | No |
ClinGen 1000Genomes TOPMed |
|
| COSM942324 | 1042 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1007459436 CA232298270 |
1044 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA6402830 rs780365988 |
1045 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs772443177 CA6402828 |
1047 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1435775407 CA383513856 |
1047 | H>Y | No |
ClinGen gnomAD |
|
|
CA383513833 rs1346648857 |
1048 | N>S | No |
ClinGen gnomAD |
|
|
rs1431094402 CA383513777 |
1050 | I>V | No |
ClinGen gnomAD |
|
|
rs1177285174 CA383513746 |
1051 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA228378 RCV000086639 rs61748496 |
1053 | Q>H | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA383513654 rs1249565555 |
1054 | T>A | No |
ClinGen gnomAD |
|
|
CA6402825 rs757834200 |
1054 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383513634 rs1254096629 |
1055 | M>T | No |
ClinGen TOPMed |
|
|
rs777974061 CA6402823 |
1055 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA383513614 rs1454198148 |
1056 | V>L | No |
ClinGen TOPMed |
|
|
CA383513586 rs1192362863 |
1057 | D>Y | No |
ClinGen TOPMed |
|
|
CA6402822 rs374339543 |
1059 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383513556 rs374339543 |
1059 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs267607314 CA383513517 |
1060 | C>F | No |
ClinGen TOPMed |
|
|
rs753032917 CA6402820 |
1061 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383513420 rs143024162 |
1064 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6402818 rs143024162 |
1064 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6402816 COSM1363504 rs749872924 |
1067 | V>I | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs761643822 CA383513305 |
1070 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761643822 CA6402814 |
1070 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA228382 RCV000086642 rs267607315 |
1071 | C>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1591866389 CA383512350 |
1075 | V>G | No |
ClinGen Ensembl |
|
|
rs764705104 CA6402798 |
1076 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA6402797 rs756834308 |
1077 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1330515069 CA383512340 |
1077 | P>S | No |
ClinGen TOPMed |
|
|
rs267607316 RCV000086643 CA228384 |
1078 | E>K | No |
ClinGen ClinVar ESP TOPMed dbSNP |
|
|
CA232298117 rs267607316 |
1078 | E>Q | No |
ClinGen ESP TOPMed |
|
|
rs1334197148 CA383512326 |
1079 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1276807781 CA383512316 |
1081 | L>V | No |
ClinGen TOPMed |
|
|
rs767478373 CA6402791 |
1082 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1084 | C>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs771087646 CA6402787 |
1087 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383512270 rs1591866311 |
1088 | T>P | No |
ClinGen Ensembl |
|
|
CA6402785 rs529227474 |
1090 | S>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383512253 rs529227474 |
1090 | S>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1169504012 CA383512239 |
1092 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
RCV000086644 rs267607317 CA228386 |
1094 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA383512219 rs1397155952 |
1095 | G>E | No |
ClinGen gnomAD |
|
|
CA383512218 rs1397155952 |
1095 | G>V | No |
ClinGen gnomAD |
|
|
rs748673885 CA6402783 |
1096 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA383512205 rs149895348 |
1097 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1002438894 CA232298116 |
1097 | C>Y | No |
ClinGen TOPMed |
|
|
COSM4044036 CA6402781 rs755385279 |
1098 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
rs1169771081 CA383512195 |
1099 | C>Y | No |
ClinGen TOPMed |
|
|
rs202034414 CA232298115 |
1101 | C>G | No |
ClinGen Ensembl |
|
|
CA228388 rs202034414 RCV000086645 |
1101 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs267607318 CA228390 RCV000086646 |
1101 | C>W | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs778499185 CA6402779 |
1102 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383512170 rs113805591 |
1103 | T>A | No |
ClinGen gnomAD |
|
|
CA232298114 rs113805591 |
1103 | T>P | No |
ClinGen gnomAD |
|
|
CA383512155 RCV000851633 rs1591866220 |
1105 | A>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA232298112 rs913989558 |
1108 | A>V | No |
ClinGen TOPMed |
|
|
rs756884497 CA6402778 |
1109 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs756064548 CA6402775 |
1110 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs763577959 CA6402776 |
1110 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA228394 rs267607320 RCV000086648 |
1111 | C>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA383512091 rs1408359593 |
1112 | A>V | No |
ClinGen gnomAD |
|
|
rs543974370 CA232298111 |
1113 | Q>H | No |
ClinGen 1000Genomes |
|
|
CA6402771 rs751419967 |
1119 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867413416 CA232298109 |
1123 | A>T | No |
ClinGen Ensembl |
|
|
rs763092699 CA6402769 |
1124 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs769825878 CA6402767 |
1125 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA383511798 rs1184092848 |
1125 | L>W | No |
ClinGen gnomAD |
|
|
rs139579968 COSM4575648 CA6402766 |
1127 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1449152862 CA383511619 |
1128 | Q>E | No |
ClinGen TOPMed |
|
|
rs267607322 RCV000086651 |
1129 | S>missing | No |
ClinVar dbSNP |
|
|
RCV000086653 rs267607323 CA228402 |
1130 | C>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs267607323 RCV000086652 CA228400 |
1130 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000986070 rs1591865617 CA383511562 |
1130 | C>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA232298040 rs1029092876 |
1131 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA383511539 rs1476476767 |
1132 | E>G | No |
ClinGen gnomAD |
|
|
rs1239632320 CA383511491 |
1134 | N>S | No |
ClinGen TOPMed |
|
|
CA383511495 rs1239632320 |
1134 | N>T | No |
ClinGen TOPMed |
|
|
CA383511467 rs1258764367 |
1136 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA383511471 rs1196204671 |
1136 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1383933829 CA383511463 |
1137 | E>Q | No |
ClinGen TOPMed |
|
|
CA232298039 rs996642659 |
1138 | N>D | No |
ClinGen TOPMed |
|
|
rs1447019004 CA383511395 |
1143 | E>* | No |
ClinGen TOPMed |
|
|
RCV000086655 CA228406 rs267607325 |
1144 | W>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1206499921 CA383511380 |
1145 | R>G | No |
ClinGen gnomAD |
|
|
CA383511378 rs1350829214 |
1145 | R>H | No |
ClinGen gnomAD |
|
|
CA383511369 rs1555195305 |
1146 | Y>* | No |
ClinGen Ensembl |
|
|
rs1440323763 CA383511354 |
1148 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1449083671 CA383511345 |
1150 | A>T | No |
ClinGen TOPMed |
|
|
rs1225967733 CA383511340 |
1150 | A>V | No |
ClinGen gnomAD |
|
|
rs267607327 CA228412 RCV000086658 |
1154 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs267607329 CA228416 RCV000086660 |
1157 | C>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA383511283 rs1591865493 |
1159 | H>P | No |
ClinGen Ensembl |
|
|
CA383511272 rs1281035109 |
1161 | E>K | No |
ClinGen TOPMed |
|
|
rs1241824492 CA383511251 |
1164 | A>V | No |
ClinGen TOPMed |
|
|
CA383511232 rs1320598387 |
1167 | V>L | No |
ClinGen gnomAD |
|
|
CA383511202 rs1382987602 |
1171 | E>G | No |
ClinGen gnomAD |
|
|
rs267607330 CA228418 RCV000086661 |
1171 | E>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
COSM3931712 rs1555195293 CA383511196 |
1172 | G>V | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs1388099496 CA383511150 |
1178 | P>L | No |
ClinGen gnomAD |
|
|
CA383511144 rs1591865463 |
1179 | P>L | No |
ClinGen Ensembl |
|
|
rs780855722 CA6402741 |
1180 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs780855722 CA6402740 |
1180 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA232297983 rs147818186 |
1183 | L>V | No |
ClinGen ESP |
|
|
rs1243003069 CA383511044 |
1184 | D>N | No |
ClinGen TOPMed |
|
|
rs758171853 CA6402736 |
1188 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA383510980 rs1185251070 |
1189 | T>N | No |
ClinGen TOPMed |
|
|
rs1591865040 CA383510983 |
1189 | T>P | No |
ClinGen Ensembl |
|
|
CA6402734 rs368327275 |
1191 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1591865008 CA383510962 |
1192 | D>A | No |
ClinGen Ensembl |
|
|
CA383510965 rs1168869975 |
1192 | D>Y | No |
ClinGen gnomAD |
|
|
COSM6073212 rs1389202589 CA383510951 COSM549489 |
1194 | E>K | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs374591991 CA383510943 |
1195 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374591991 CA6402731 |
1195 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61749365 CA228425 RCV000086665 |
1196 | C>R | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA6402730 rs761144403 |
1196 | C>W | No |
ClinGen ExAC gnomAD |
|
|
CA6402729 rs372171661 |
1197 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM694872 CA383510872 rs372171661 |
1197 | P>Q | lung Variant assessed as Somatic; MODERATE impact. [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| COSM694873 | 1199 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1274965501 CA383510777 |
1200 | E>K | No |
ClinGen gnomAD |
|
|
rs1344312081 CA383510731 |
1201 | V>A | No |
ClinGen TOPMed |
|
|
CA6402727 rs759769683 |
1202 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs774790905 CA6402726 |
1203 | G>D | No |
ClinGen ExAC gnomAD |
|
| COSM6073213 | 1204 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1014100882 CA232297980 |
1204 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs769502210 CA6402725 |
1204 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000086667 CA228427 rs121964895 |
1205 | R>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM3464084 | 1206 | F>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs776268929 CA6402723 |
1207 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1031496851 CA232297979 |
1208 | S>L | No |
ClinGen TOPMed |
|
|
CA6402722 rs768331524 |
1208 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA383510562 rs1330096689 |
1209 | G>E | No |
ClinGen gnomAD |
|
|
rs746935137 CA6402721 |
1218 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1220 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1166400139 CA383510353 |
1222 | C>R | No |
ClinGen gnomAD |
|
|
RCV000086668 rs267607333 CA228429 |
1225 | C>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1285257788 CA383510305 |
1225 | C>Y | No |
ClinGen TOPMed |
|
|
CA383507906 rs1182716198 |
1228 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 1228 | D>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6402699 rs771840215 |
1229 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383507840 rs1398513804 |
1231 | N>H | No |
ClinGen gnomAD |
|
|
CA6402697 rs749109451 |
1232 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383507813 rs1327728460 |
1233 | T>A | No |
ClinGen gnomAD |
|
|
rs1327728460 CA383507814 |
1233 | T>P | No |
ClinGen gnomAD |
|
|
RCV000086672 rs61749369 CA228437 |
1234 | C>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1236 | A>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1441119158 CA383507729 |
1236 | A>T | No |
ClinGen gnomAD |
|
|
CA6402695 rs756371665 |
1236 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383507696 rs1591863651 |
1237 | C>F | No |
ClinGen Ensembl |
|
| TCGA novel | 1237 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383507616 rs1357714632 |
1239 | E>D | No |
ClinGen TOPMed |
|
| TCGA novel | 1239 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383507606 rs1192830957 |
1240 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1192830957 CA383507613 |
1240 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1408494737 CA383507573 |
1241 | G>E | No |
ClinGen TOPMed |
|
|
CA6402690 rs752162086 |
1243 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6402688 rs540839573 |
1244 | V>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs763785588 CA6402686 |
1246 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1367663700 CA383507429 |
1247 | P>R | No |
ClinGen TOPMed |
|
| COSM3464083 | 1247 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs780840625 CA6402684 |
1249 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6402681 rs144691240 |
1250 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6402682 rs144691240 |
1250 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769901328 CA6402677 |
1252 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA232297778 rs906284277 |
1254 | P>L | No |
ClinGen TOPMed |
|
|
rs1042075297 CA232297777 |
1255 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs781111573 CA6402674 |
1258 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751720834 CA6402672 |
1261 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs755127078 CA6402673 |
1261 | D>N | No |
ClinGen ExAC gnomAD |
|
|
COSM230697 CA6402670 rs758991219 |
1263 | S>L | Variant assessed as Somatic; MODERATE impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA383507152 rs758991219 |
1263 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383507141 rs1367762735 |
1264 | E>A | No |
ClinGen gnomAD |
|
|
CA383507134 rs1162458252 |
1264 | E>D | No |
ClinGen gnomAD |
|
|
rs765703178 CA6402668 |
1265 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383507126 rs1430039021 |
1265 | P>S | No |
ClinGen gnomAD |
|
|
CA383507115 rs1272514150 |
1266 | P>S | No |
ClinGen TOPMed |
|
|
CA228443 rs61749371 RCV000086677 |
1268 | H>N | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA232297776 rs61749371 |
1268 | H>Y | No |
ClinGen TOPMed |
|
|
COSM942323 rs770786924 CA6402664 |
1269 | D>N | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
CA383507069 rs770786924 |
1269 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
RCV000086681 rs63524160 |
1271 | Y>YFY | No |
ClinVar dbSNP |
|
|
CA228447 RCV000086680 rs61749372 |
1272 | C>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs63524161 RCV000086682 CA228451 |
1272 | C>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1273 | S>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1273 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6402663 rs762943129 |
1275 | L>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000086684 rs61749374 CA228455 |
1276 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA228461 rs61749376 RCV000086687 |
1279 | V>F | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1370175388 CA383506880 |
1280 | F>V | No |
ClinGen gnomAD |
|
|
rs61749378 CA228464 RCV000086689 |
1282 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1219290844 CA383506819 |
1283 | D>Y | No |
ClinGen TOPMed |
|
|
rs61749380 CA383506757 |
1285 | S>C | No |
ClinGen gnomAD |
|
|
CA383506740 rs1386795875 |
1287 | R>G | No |
ClinGen gnomAD |
|
|
RCV000507598 CA6402656 rs138900040 RCV001356514 |
1290 | E>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 1291 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6402655 rs746438161 |
1295 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs61749381 CA228474 RCV000086695 |
1296 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs554436297 CA383506425 |
1298 | A>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs554436297 CA6402654 |
1298 | A>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383506368 rs1397054209 |
1300 | V>G | No |
ClinGen gnomAD |
|
|
rs754172743 CA6402652 |
1300 | V>L | No |
ClinGen ExAC |
|
|
rs1591863382 CA383506361 |
1301 | V>M | No |
ClinGen Ensembl |
|
|
rs61749382 CA228476 RCV000086696 |
1302 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA383506344 rs1344094892 |
1302 | D>N | No |
ClinGen gnomAD |
|
| COSM3464082 | 1303 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383506283 rs1448042092 |
1303 | M>T | No |
ClinGen TOPMed |
|
|
rs1029751209 CA232297774 |
1303 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
RCV000086698 rs61749383 |
1304 | M>missing | No |
ClinVar dbSNP |
|
|
rs767135898 CA6402651 |
1304 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs267607336 RCV000086697 CA228478 |
1304 | M>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1265932750 CA383506232 |
1305 | E>A | No |
ClinGen gnomAD |
|
|
RCV001000781 rs61749385 CA383506213 |
1306 | R>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs61749388 CA228488 COSM1363503 RCV000086704 |
1308 | R>H | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6402650 rs61749388 |
1308 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA228490 rs61749388 RCV000086705 |
1308 | R>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs61749390 CA228494 RCV000086707 |
1310 | S>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6402648 rs267607337 |
1311 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000986072 rs1591863336 CA383506136 |
1312 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA228500 rs61749394 RCV000086711 |
1314 | V>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs61749393 CA228498 RCV000086710 |
1314 | V>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6402646 rs61749397 |
1316 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1591863300 CA383506035 |
1320 | E>G | No |
ClinGen Ensembl |
|
|
rs1565832266 RCV000759393 CA383505999 |
1322 | H>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6402643 rs775702030 |
1322 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs558167224 CA6402639 |
1323 | D>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369628563 CA6402641 |
1323 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61749399 RCV000086717 CA228508 |
1324 | G>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs538488005 CA6402638 |
1325 | S>F | No |
ClinGen 1000Genomes ExAC |
|
|
rs751260845 CA383505924 |
1327 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751260845 CA6402636 |
1327 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765845488 CA6402635 |
1327 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs138413641 CA6402633 |
1329 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757866123 CA6402634 |
1329 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs548929810 CA6402631 |
1330 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6402629 rs764041417 |
1333 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs775812331 CA383505823 |
1334 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775812331 CA6402627 |
1334 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM4740710 CA6402628 RCV003317357 RCV000759394 rs746810319 |
1334 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1253742420 CA383505818 |
1335 | K>E | No |
ClinGen gnomAD |
|
|
rs1565832211 CA383505798 RCV000759395 |
1336 | R>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA383505783 rs61749400 |
1337 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA383505786 rs1287608430 |
1337 | P>T | No |
ClinGen gnomAD |
|
|
CA228512 RCV000086719 rs61749401 |
1338 | S>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000759396 rs771464323 CA6402624 |
1338 | S>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1400256562 CA383505760 |
1339 | E>V | No |
ClinGen gnomAD |
|
|
rs61749403 CA228518 RCV000086723 |
1341 | R>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs61749404 CA228959 RCV000087018 |
1342 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6402623 rs527483960 COSM1990430 |
1342 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA383505726 rs527483960 |
1342 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6402619 rs778358708 |
1346 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM4044033 | 1347 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs757208857 CA6402618 |
1348 | K>E | No |
ClinGen ExAC gnomAD |
|
|
COSM1171928 CA6402616 rs764155969 |
1350 | A>V | Variant assessed as Somatic; MODERATE impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA383505629 rs1338948803 |
1351 | G>S | No |
ClinGen gnomAD |
|
|
CA383505565 rs1322770774 |
1353 | Q>* | No |
ClinGen gnomAD |
|
|
rs752550181 CA6402614 |
1353 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1329838691 CA383505508 |
1355 | A>V | No |
ClinGen TOPMed |
|
|
CA6402611 rs774476528 |
1357 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs267607338 RCV002222389 CA228526 RCV000086727 |
1360 | V>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs61750067 CA228530 RCV000086729 |
1362 | K>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs781543243 CA6402607 |
1364 | T>S | No |
ClinGen ExAC |
|
|
rs61750068 RCV000086730 |
1365 | L>missing | No |
ClinVar dbSNP |
|
|
CA6402605 rs745569482 |
1365 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA383505320 CA6402602 rs753407706 |
1366 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199703097 CA232297772 |
1368 | I>V | No |
ClinGen Ensembl |
|
|
CA383504516 rs1364639559 |
1371 | K>T | No |
ClinGen gnomAD |
|
|
CA383504506 rs767476789 |
1372 | I>M | No |
ClinGen ExAC gnomAD |
|
| COSM1299744 | 1372 | I>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383504502 rs1591863082 |
1373 | D>A | No |
ClinGen Ensembl |
|
|
rs1332206266 CA383504505 |
1373 | D>N | No |
ClinGen gnomAD |
|
|
rs1332206266 CA383504503 |
1373 | D>Y | No |
ClinGen gnomAD |
|
|
CA228537 rs61750071 RCV000086733 |
1374 | R>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs751767496 CA6402598 RCV001800719 |
1375 | P>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA383504470 rs1565832117 |
1376 | E>D | No |
ClinGen Ensembl |
|
|
rs61750073 RCV000086737 CA228545 |
1378 | S>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6402596 rs773292982 |
1379 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383504420 rs216311 |
1381 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs773823592 CA6402590 |
1383 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000086739 CA228549 rs61750075 |
1383 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs61750075 CA228551 RCV000086740 |
1383 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA383504344 rs1565832072 RCV000759398 |
1387 | S>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1205530944 CA383504332 |
1388 | Q>* | No |
ClinGen gnomAD |
|
|
rs201895432 CA6402588 |
1389 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383504310 rs1235599365 |
1389 | E>G | No |
ClinGen TOPMed |
|
|
RCV000086741 rs63749069 |
1392 | R>missing | No |
ClinVar dbSNP |
|
|
rs1944100808 RCV001284372 |
1392 | R>Q | No |
ClinVar dbSNP |
|
|
COSM942321 CA6402585 rs555891676 |
1392 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
CA6402584 rs781101010 |
1393 | M>V | No |
ClinGen ExAC |
|
|
rs1033516182 CA232297770 |
1394 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs766456147 CA6402581 |
1395 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751394243 CA6402582 |
1395 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758651560 CA6402580 |
1396 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA6402579 rs750498610 |
1396 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA383504130 rs1249080969 |
1398 | V>I | No |
ClinGen TOPMed |
|
|
rs1800382 CA383504076 |
1399 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6402577 rs764695443 |
1400 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs777165972 CA6402578 |
1400 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1289816 rs536484748 RCV000986074 CA6402575 |
1401 | V>I | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
COSM4044032 rs1182668622 RCV001812450 CA383503965 |
1402 | Q>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs141990425 CA6402573 |
1408 | K>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs141990425 CA6402572 |
1408 | K>Q | No |
ClinGen ESP ExAC gnomAD |
|
| COSM3398971 | 1409 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383503755 rs1278014477 |
1410 | I>V | No |
ClinGen gnomAD |
|
|
CA6402569 rs780941826 |
1412 | I>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000086747 CA228565 rs61750079 |
1413 | P>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA383503635 rs61750079 RCV000507966 RCV001805123 |
1413 | P>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1565831973 RCV000759399 CA383503586 |
1414 | V>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA383503581 rs1400741237 |
1415 | G>C | No |
ClinGen gnomAD |
|
|
rs61750080 CA228567 RCV000086748 |
1415 | G>D | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA383503557 rs61750080 |
1415 | G>V | No |
ClinGen gnomAD |
|
|
rs1449781994 CA383503533 |
1416 | I>M | No |
ClinGen gnomAD |
|
|
CA6402566 rs375498783 |
1419 | H>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6402565 rs569177726 |
1419 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6402567 rs375498783 |
1419 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765274536 CA6402564 |
1420 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA228571 RCV000086750 rs61750082 |
1421 | N>K | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA6402563 rs757291698 |
1423 | K>R | No |
ClinGen ExAC gnomAD |
|
|
COSM4044031 rs555366738 CA6402561 |
1426 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA383503203 rs761308466 |
1426 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs761308466 CA6402560 |
1426 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs555366738 CA6402562 |
1426 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752988023 CA383503189 |
1427 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA383503184 rs1201887591 |
1427 | L>H | No |
ClinGen gnomAD |
|
| COSM4044030 | 1427 | L>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6402559 rs752988023 |
1427 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs762661828 CA6402557 |
1428 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6402554 rs761350219 |
1429 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs371554756 CA6402555 |
1429 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764656927 CA6402553 |
1432 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383503027 rs1229196096 |
1432 | A>V | No |
ClinGen gnomAD |
|
|
rs761133732 CA232297768 |
1436 | K>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761133732 CA6402551 |
1436 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6402550 rs150077670 COSM1162773 |
1439 | V>M | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1343307373 CA383502758 |
1444 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA228577 RCV000086753 rs61750085 |
1447 | E>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA6402547 rs757471243 |
1452 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA383502464 rs533417176 |
1454 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA228579 RCV000086754 rs61750086 CA228581 RCV000086755 |
1456 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6402544 rs756553861 |
1456 | Y>D | No |
ClinGen ExAC |
|
| COSM4740709 | 1457 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA228582 rs61750087 RCV000086756 |
1458 | C>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6402543 rs61750088 RCV001284374 |
1460 | L>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA228586 rs61750089 RCV000086758 |
1461 | A>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV001812440 rs1944097477 |
1461 | A>T | No |
ClinVar dbSNP |
|
| TCGA novel | 1463 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759931005 CA6402542 |
1463 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6402541 rs751985873 |
1464 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1290650452 CA383502176 |
1465 | P>L | No |
ClinGen gnomAD |
|
|
rs764916576 CA6402540 |
1465 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs61750091 RCV000086761 CA228592 |
1467 | P>S | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1591862730 CA383502135 |
1468 | T>P | No |
ClinGen Ensembl |
|
|
CA383502092 rs761625938 |
1470 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1323909138 CA383502088 |
1470 | P>R | No |
ClinGen TOPMed |
|
|
CA6402539 rs761625938 |
1470 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359821478 CA383502066 |
1471 | P>R | No |
ClinGen gnomAD |
|
|
CA6402537 rs768264558 |
1471 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000086762 rs1555194995 |
1472 | D>missing | No |
ClinVar dbSNP |
|
|
RCV000086763 rs61750093 |
1472 | D>missing | No |
ClinVar dbSNP |
|
| COSM1363499 | 1472 | D>T | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6402535 rs1800383 |
1472 | D>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383502005 rs1591862673 |
1474 | A>S | No |
ClinGen Ensembl |
|
|
rs61750094 CA228596 RCV000086764 |
1475 | Q>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA383501993 rs61750094 |
1475 | Q>E | No |
ClinGen gnomAD |
|
|
rs778742589 CA6402531 COSM3812735 |
1480 | P>L | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA383501898 rs1390402085 |
1481 | G>E | No |
ClinGen gnomAD |
|
|
CA232297767 rs267603619 |
1484 | G>E | No |
ClinGen Ensembl |
|
|
rs61750095 RCV000851794 RCV000086765 |
1485 | V>missing | No |
ClinVar dbSNP |
|
|
rs1163946298 CA383501845 |
1485 | V>I | No |
ClinGen TOPMed |
|
|
rs981971418 CA232297766 |
1489 | G>R | No |
ClinGen TOPMed |
|
|
CA6402525 rs781740850 |
1489 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA6402524 rs755546877 |
1490 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383501773 RCV000851795 rs1591862624 |
1491 | K>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA383501765 rs1381767728 |
1492 | R>S | No |
ClinGen TOPMed |
|
|
rs751967839 CA6402523 |
1494 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA232297765 rs1020816159 |
1495 | M>I | No |
ClinGen TOPMed |
|
|
rs1591862606 CA383501750 |
1495 | M>V | No |
ClinGen Ensembl |
|
|
CA383501731 rs766910271 |
1496 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs766910271 CA6402522 |
1496 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1305235751 CA383501711 |
1497 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1565831748 CA383501702 RCV000756908 |
1498 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA228599 RCV000086766 rs61750096 |
1500 | A>E | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA6402520 rs61750096 RCV000508271 |
1500 | A>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA6402517 rs774879567 |
1502 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA228607 RCV000086770 rs61750097 |
1503 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000086769 CA228605 rs61750097 |
1503 | L>Q | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs61750097 CA228609 RCV000086771 |
1503 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA228613 rs61750099 RCV000086773 |
1505 | G>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000086772 rs61750098 CA228611 |
1505 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs770750061 CA6402513 |
1509 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1182847924 CA383501525 |
1510 | G>C | No |
ClinGen TOPMed |
|
|
rs1267327723 CA383501475 |
1512 | A>V | No |
ClinGen gnomAD |
|
|
rs769921684 CA6402510 |
1513 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| COSM3464080 | 1514 | F>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1157153007 CA383501419 |
1515 | N>D | No |
ClinGen TOPMed |
|
|
rs1252153468 CA383501410 |
1515 | N>S | No |
ClinGen TOPMed gnomAD |
|
| COSM6137632 | 1516 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA228617 rs61750102 RCV000086776 |
1518 | K>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1257255818 CA383501262 COSM1739907 |
1520 | F>L | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6402508 rs781489378 |
1521 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466757844 CA383501254 |
1521 | M>V | No |
ClinGen TOPMed |
|
|
CA232297763 rs267603618 |
1526 | Q>* | No |
ClinGen Ensembl |
|
|
CA6402507 rs755528551 |
1526 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747570522 CA6402506 |
1527 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6402504 rs564544500 |
1528 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383501072 rs1328509520 |
1528 | M>T | No |
ClinGen gnomAD |
|
|
rs138670575 CA6402503 |
1529 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs138670575 CA6402502 |
1529 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1212135386 CA383501018 |
1532 | Q>E | No |
ClinGen gnomAD |
|
|
CA6402497 rs774230893 |
1533 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1161976560 CA383500954 |
1533 | D>G | No |
ClinGen gnomAD |
|
|
CA6402498 rs759435371 |
1533 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA6402496 rs766324620 |
1534 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383500870 rs1208991478 |
1536 | H>D | No |
ClinGen TOPMed |
|
|
CA383500862 rs1277873576 |
1536 | H>R | No |
ClinGen TOPMed |
|
|
COSM942319 rs772887330 CA6402494 |
1537 | V>I | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs377512022 CA6402493 COSM1363498 |
1538 | T>M | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs267607341 CA228622 RCV000086779 |
1539 | V>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1460463859 CA383500709 COSM1176434 |
1541 | Q>H | endometrium [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs267607345 RCV000086783 |
1545 | M>* | No |
ClinVar dbSNP |
|
|
rs267607346 RCV000086784 |
1546 | V>missing | No |
ClinVar dbSNP |
|
|
rs776831620 CA6402491 |
1546 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776831620 CA383500587 |
1546 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383500540 rs1236558845 |
1548 | V>M | No |
ClinGen gnomAD |
|
|
CA228633 RCV000086785 RCV001002224 rs267607347 |
1549 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6402489 rs747120629 |
1550 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA6402487 rs186559034 |
1551 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs186559034 CA6402488 |
1551 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs779199328 CA6402485 |
1553 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA6402482 rs182250388 |
1554 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752384122 CA6402483 |
1554 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1301911610 CA383500351 |
1555 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA383500359 rs1301911610 |
1555 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6402480 rs751081188 |
1557 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA6402479 rs766271288 |
1558 | K>I | No |
ClinGen ExAC gnomAD |
|
|
CA383500210 rs1443549124 RCV000759402 |
1560 | D>E | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs762864472 CA6402478 |
1560 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs61750111 CA228637 RCV000086787 |
1562 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA383500188 rs1465310133 |
1562 | L>V | No |
ClinGen gnomAD |
|
|
rs1203208451 CA383500154 |
1564 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
RCV001001989 CA6402475 rs370854023 |
1564 | R>W | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
RCV000086788 CA228639 COSM3398970 rs61750112 |
1566 | R>* | Variant assessed as Somatic; HIGH impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
CA383500115 rs1245516346 |
1566 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
RCV000086789 CA228641 rs267607348 |
1568 | I>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs61909722 CA6402473 |
1569 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769025840 CA6402472 |
1569 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| VAR_036276 | 1570 | Y>C | a breast cancer sample; somatic mutation [UniProt] | No | UniProt |
|
CA383500032 rs1435940468 |
1570 | Y>S | No |
ClinGen TOPMed |
|
|
CA232297761 rs144474530 COSM107819 |
1571 | Q>H | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
| COSM6137634 | 1572 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs775720629 CA6402470 |
1574 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA383499900 rs1407490710 |
1575 | R>K | No |
ClinGen gnomAD |
|
| TCGA novel | 1575 | R>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs913807168 CA232297760 |
1578 | T>A | No |
ClinGen TOPMed |
|
|
rs61750113 RCV000086791 CA228645 |
1579 | G>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM6137635 | 1579 | G>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA228649 rs61750115 RCV000086793 |
1580 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000086792 CA228647 rs61750114 |
1580 | L>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6402465 rs538030800 |
1583 | R>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs61750116 RCV002222392 RCV000086794 CA228651 |
1583 | R>W | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA383499619 rs1475440343 |
1584 | Y>* | No |
ClinGen gnomAD |
|
|
rs373898451 CA6402464 |
1586 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1167553231 CA383499477 |
1589 | S>N | No |
ClinGen TOPMed |
|
|
CA6402462 rs758335641 |
1594 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA6402461 rs750369682 |
1596 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs765253214 CA6402460 |
1596 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA228659 rs61750577 RCV000086800 |
1597 | R>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs753701755 CA6402458 |
1598 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6402456 rs376943868 |
1600 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA383499205 rs1366845638 |
1601 | P>S | No |
ClinGen TOPMed |
|
|
CA383499192 rs1332121982 |
1602 | N>D | No |
ClinGen gnomAD |
|
|
rs267607350 RCV000086801 CA228661 |
1603 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000086802 CA228663 rs61750578 |
1604 | V>F | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs549303552 CA6402454 |
1606 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| COSM468738 | 1608 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383499000 rs1410103901 |
1611 | P>T | No |
ClinGen gnomAD |
|
|
CA6402451 rs771480690 |
1612 | A>V | No |
ClinGen ExAC gnomAD |
|
| COSM3464079 | 1613 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1335546904 CA383498936 |
1614 | D>E | No |
ClinGen TOPMed |
|
|
rs61750582 CA228667 RCV000086806 |
1614 | D>G | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1478977315 RCV000760123 CA383498944 |
1614 | D>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs901427117 CA232297757 |
1615 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1565831484 CA383498920 |
1616 | I>L | No |
ClinGen Ensembl |
|
|
rs1016225841 CA232297756 |
1616 | I>N | No |
ClinGen TOPMed |
|
|
rs559911446 CA6402448 |
1617 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1254310454 CA383498862 |
1620 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1275182323 CA383498863 |
1620 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1437392509 CA383498855 |
1621 | G>R | No |
ClinGen gnomAD |
|
|
CA383498798 RCV000508422 rs1220968200 |
1625 | V>L | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs369291547 CA6402444 |
1626 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA228669 RCV000086807 rs61750583 |
1627 | P>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs61750586 RCV000086810 |
1629 | G>missing | No |
ClinVar dbSNP |
|
|
CA228671 RCV000086809 rs61750585 COSM1704937 |
1629 | G>R | skin [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
RCV000086811 rs61750587 CA228674 |
1630 | V>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1390243433 CA383498745 |
1632 | P>H | No |
ClinGen TOPMed |
|
|
rs778661133 CA6402443 |
1635 | N>I | No |
ClinGen ExAC gnomAD |
|
|
CA383498721 rs1591862046 |
1636 | V>A | No |
ClinGen Ensembl |
|
|
CA6402441 RCV000760124 rs145676400 |
1636 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA232297755 rs61750588 |
1638 | E>Q | No |
ClinGen TOPMed |
|
|
RCV000086813 rs61750589 CA228678 |
1639 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| COSM3464077 | 1641 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM1270325 CA6402438 rs752818760 |
1642 | I>T | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
COSM1990395 CA10604006 rs886042266 RCV000351455 |
1643 | G>S | liver [Cosmic] | No |
ClinGen cosmic curated ClinVar Ensembl dbSNP |
|
rs1591862019 CA383498665 |
1645 | P>A | No |
ClinGen Ensembl |
|
|
rs1591862014 CA383498656 |
1646 | N>T | No |
ClinGen Ensembl |
|
|
CA6402437 rs767800116 |
1647 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA6402436 rs267607351 |
1648 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267607351 RCV000086815 CA228682 |
1648 | P>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1306900762 CA6402435 |
1649 | I>V | No |
ClinGen TOPMed |
|
|
CA6402434 rs774492504 |
1651 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA383498618 COSM942318 rs1283877127 |
1652 | Q>H | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
|
rs1342434690 CA383498601 |
1655 | E>K | No |
ClinGen gnomAD |
|
|
CA383498596 rs1469836095 |
1655 | E>V | No |
ClinGen gnomAD |
|
|
rs773544469 COSM2153614 CA6402431 |
1656 | T>M | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs61750593 RCV000086818 CA228687 |
1657 | L>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs61750592 CA228685 RCV000086817 |
1657 | L>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA383498581 rs1202328622 |
1658 | P>H | No |
ClinGen gnomAD |
|
|
rs1186450408 CA383498583 |
1658 | P>S | No |
ClinGen TOPMed |
|
|
RCV000086819 rs61750594 |
1659 | R>missing | No |
ClinVar dbSNP |
|
|
rs781675955 CA6402429 |
1659 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA383498559 rs1223530959 |
1662 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA232297754 rs949350626 |
1663 | D>G | No |
ClinGen TOPMed |
|
| COSM468737 | 1666 | L>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383498531 rs1449653323 |
1667 | Q>* | No |
ClinGen gnomAD |
|
|
CA383498532 rs1449653323 |
1667 | Q>E | No |
ClinGen gnomAD |
|
|
rs575428870 CA383498526 |
1667 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs61750597 CA228694 RCV000086823 |
1668 | R>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1468180315 CA383498512 |
1669 | C>W | No |
ClinGen gnomAD |
|
|
CA6402425 rs749273878 |
1670 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA6402423 rs752547341 |
1673 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA228698 rs61750599 RCV000086825 |
1675 | L>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA383498473 rs1591861894 |
1676 | Q>* | No |
ClinGen Ensembl |
|
|
CA383498466 rs1242618824 |
1677 | I>V | No |
ClinGen gnomAD |
|
|
CA383498455 rs1466659084 |
1678 | P>L | No |
ClinGen gnomAD |
|
|
CA383498458 rs1477870096 |
1678 | P>S | No |
ClinGen gnomAD |
|
|
CA6402420 rs751577332 |
1679 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6402419 rs573448801 |
1680 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| COSM942317 | 1680 | L>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA232297753 rs397840484 |
1680 | L>R | No |
ClinGen Ensembl |
|
|
CA383498448 rs573448801 |
1680 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000176852 rs794727461 CA242930 |
1682 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs763419756 CA6402418 |
1683 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765757461 CA6402416 |
1684 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1170482741 CA383496819 |
1687 | S>N | No |
ClinGen TOPMed |
|
|
rs1373717354 CA383496813 |
1688 | Q>K | No |
ClinGen gnomAD |
|
|
CA6402400 rs139320345 |
1689 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6402396 rs548269199 |
1692 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1200649735 CA383496747 |
1693 | I>L | No |
ClinGen gnomAD |
|
|
CA6402395 rs764555265 |
1694 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1272874836 CA383496716 |
1695 | L>F | No |
ClinGen TOPMed |
|
|
rs1272874836 CA383496721 |
1695 | L>I | No |
ClinGen TOPMed |
|
|
rs760973223 CA383496674 |
1698 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760973223 CA6402394 |
1698 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM1990384 | 1699 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6402393 rs369529543 |
1700 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770714844 CA6402392 |
1701 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534379046 CA6402391 |
1703 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383496586 rs1223948393 |
1704 | A>G | No |
ClinGen gnomAD |
|
|
rs566275530 CA6402390 |
1704 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs552464208 CA6402388 |
1705 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769616393 CA6402389 |
1705 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1393370856 CA383496565 |
1706 | Y>S | No |
ClinGen gnomAD |
|
|
CA6402387 rs780827503 |
1708 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs768448504 COSM3872222 CA6402386 |
1709 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs375946218 CA6402385 |
1710 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs780181623 CA6402384 |
1712 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs150873446 CA383496435 |
1713 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383496447 rs1187670388 |
1713 | F>L | No |
ClinGen TOPMed |
|
|
rs750486293 CA6402382 |
1714 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6402381 rs563959776 |
1715 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA232294134 rs776792833 |
1715 | K>R | No |
ClinGen Ensembl |
|
|
rs1194776238 CA383496401 |
1716 | A>S | No |
ClinGen gnomAD |
|
|
CA383496370 rs1166635399 |
1717 | F>L | No |
ClinGen TOPMed |
|
|
rs74509284 CA232294131 |
1719 | S>* | No |
ClinGen Ensembl |
|
| COSM431629 | 1720 | K>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM5041976 | 1721 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383496344 rs1479360984 |
1721 | A>V | No |
ClinGen gnomAD |
|
|
CA6402380 rs757670823 |
1722 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA6402379 rs372748722 |
1722 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383496333 rs1281164389 |
1723 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1322651402 CA383496336 |
1723 | I>V | No |
ClinGen gnomAD |
|
|
CA232294124 rs946833577 |
1724 | G>W | No |
ClinGen TOPMed |
|
|
CA6402355 RCV000760125 rs78302129 |
1725 | P>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA232294072 rs751816462 COSM3872221 |
1726 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
CA6402353 RCV001813099 rs147313320 |
1726 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6402354 rs147313320 |
1726 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383496305 rs1341194139 |
1727 | L>I | No |
ClinGen TOPMed |
|
|
rs61750602 RCV000086829 |
1728 | T>missing | No |
ClinVar dbSNP |
|
|
rs1384703954 CA383496294 |
1729 | Q>K | No |
ClinGen gnomAD |
|
|
CA383496290 rs1282710917 |
1729 | Q>R | No |
ClinGen TOPMed |
|
|
rs764077750 CA6402352 |
1731 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1404301969 CA383496276 |
1732 | V>L | No |
ClinGen gnomAD |
|
| COSM4044027 | 1732 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs374707563 CA6402350 |
1734 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383496254 rs1195230967 |
1735 | Y>C | No |
ClinGen gnomAD |
|
|
CA383496246 rs1278690542 |
1736 | G>E | No |
ClinGen TOPMed |
|
|
rs771900602 CA6402349 |
1737 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA6402348 rs745681357 |
1738 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA6402347 rs774570138 |
1739 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6402346 rs371539649 |
1740 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6402344 rs777783627 |
1741 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs749377211 CA6402345 |
1741 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6402343 rs748715084 |
1742 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM3872220 | 1742 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs781770261 CA6402341 RCV000986076 |
1743 | V>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
COSM5051847 rs1179074493 CA383496164 |
1747 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA gnomAD |
|
rs1458901160 CA383496154 |
1748 | V>I | No |
ClinGen gnomAD |
|
|
CA6402339 rs751874044 |
1749 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766882631 CA232294032 |
1750 | E>A | No |
ClinGen TOPMed |
|
|
CA383496093 rs1423524626 |
1752 | A>V | No |
ClinGen gnomAD |
|
| COSM694876 | 1754 | L>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs756915371 CA6402337 |
1756 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA6402336 rs376888924 |
1757 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383496037 rs376888924 |
1757 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1375213244 CA383496020 |
1758 | V>A | No |
ClinGen TOPMed |
|
|
CA6402334 rs41276736 CA383496007 |
1759 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6402335 rs763549909 |
1759 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
RCV000086832 CA228708 rs61750604 RCV000852150 RCV001001933 |
1760 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6402332 rs61750604 |
1760 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1269946329 CA383495982 |
1761 | M>I | No |
ClinGen gnomAD |
|
|
CA383495986 rs1490774216 |
1761 | M>K | No |
ClinGen gnomAD |
|
|
CA6402331 rs774075149 |
1762 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs199729586 CA6402330 |
1762 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6402328 rs373074982 |
1763 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763126601 CA6402329 |
1763 | R>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1339348614 CA383495955 |
1764 | E>K | No |
ClinGen gnomAD |
|
|
rs1268910016 CA383495939 |
1765 | G>R | No |
ClinGen gnomAD |
|
|
CA383495919 rs1225796199 |
1766 | G>A | No |
ClinGen gnomAD |
|
| TCGA novel | 1769 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6402327 rs769947073 |
1770 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA383495856 rs370016586 CA6402325 |
1771 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1243040706 CA383495781 COSM3464075 |
1772 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
CA383495772 rs1352828085 |
1772 | D>V | No |
ClinGen TOPMed |
|
|
rs1319094965 CA383495755 |
1773 | A>V | No |
ClinGen gnomAD |
|
|
rs1346169007 CA383495672 |
1778 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760828829 CA383495656 |
1779 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs760828829 COSM5375747 CA6402290 |
1779 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
CA6402289 rs372002214 |
1780 | Y>D | No |
ClinGen ESP ExAC gnomAD |
|
|
RCV000177517 rs372002214 CA243721 |
1780 | Y>H | No |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
|
rs1335985416 CA383495628 |
1781 | L>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1784 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1363496 | 1785 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6402288 rs150349730 |
1785 | M>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs267607354 CA228717 RCV000086837 |
1786 | H>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA232293887 rs1031442442 |
1786 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs774768100 CA6402287 |
1787 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383495470 rs1182650408 |
1789 | R>G | No |
ClinGen TOPMed |
|
|
rs551649729 CA383495432 |
1790 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs747848982 CA6402285 |
1791 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA383495394 rs1385224712 |
1792 | A>D | No |
ClinGen gnomAD |
|
|
rs1180621919 CA383495342 |
1794 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA383495336 rs1381342822 |
1795 | A>T | No |
ClinGen TOPMed |
|
|
rs146729537 CA6402284 |
1795 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6402283 rs754405864 |
1796 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1370420734 CA383495317 |
1796 | V>M | No |
ClinGen gnomAD |
|
|
CA232293873 rs374312131 |
1797 | V>I | No |
ClinGen Ensembl |
|
| TCGA novel | 1800 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779797296 CA6402281 |
1801 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA383495172 rs1226550750 |
1803 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs765163531 CA6402279 |
1805 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA383495052 rs1339347079 |
1807 | S>L | No |
ClinGen Ensembl |
|
|
CA383495046 rs1339258944 |
1808 | V>M | No |
ClinGen gnomAD |
|
|
rs1565830221 CA383494956 |
1811 | A>G | No |
ClinGen Ensembl |
|
|
rs1565830221 CA383494964 |
1811 | A>V | No |
ClinGen Ensembl |
|
|
CA383494933 rs1591860285 |
1813 | D>G | No |
ClinGen Ensembl |
|
| COSM4392897 | 1813 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383494905 rs1358922592 |
1814 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA383494904 rs1358922592 |
1814 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA6402277 rs754062706 |
1815 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA383494867 rs1162704340 |
1816 | R>K | No |
ClinGen gnomAD |
|
|
CA383494866 rs1162704340 |
1816 | R>T | No |
ClinGen gnomAD |
|
|
CA383494843 rs1591860271 |
1817 | S>A | No |
ClinGen Ensembl |
|
|
CA6402257 rs767687582 |
1819 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs759635862 CA6402256 |
1820 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383493894 rs61750609 |
1822 | V>A | No |
ClinGen TOPMed |
|
|
RCV000086840 CA228723 rs61750609 |
1822 | V>G | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA228725 rs61750610 RCV000086841 |
1824 | P>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1825 | I>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383493880 rs372430819 |
1825 | I>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6402254 rs766877030 |
1825 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6402255 rs372430819 |
1825 | I>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6402253 rs763246893 |
1828 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1299445904 CA383493858 |
1828 | G>V | No |
ClinGen gnomAD |
|
|
rs1374150483 CA383493851 |
1829 | D>E | No |
ClinGen gnomAD |
|
|
CA6402252 rs143445274 |
1829 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1829 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768189363 COSM1636907 CA6402251 |
1830 | R>C | Variant assessed as Somatic; MODERATE impact. bone [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs370511668 CA6402250 |
1830 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs186798928 CA6402249 |
1831 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 1831 | Y>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM1476807 | 1832 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383493839 COSM942314 rs1376775130 |
1832 | D>N | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
rs745399451 CA6402247 |
1834 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1834 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM2150072 rs545304154 CA6402245 |
1837 | R>Q | Variant assessed as Somatic; MODERATE impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1250634491 COSM1232474 CA383493806 |
1837 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA6402244 rs575249185 |
1838 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6402242 rs376350586 |
1840 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs752918966 CA6402241 |
1840 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1555194446 CA383493781 RCV000523087 |
1841 | G>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 1843 | A>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383493750 rs1385684947 |
1846 | S>F | No |
ClinGen gnomAD |
|
|
rs146540001 CA383493744 |
1847 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766858874 CA6402237 |
1847 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA6402234 rs376993019 |
1848 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM942313 CA6402235 rs376993019 |
1848 | V>M | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA383493734 rs1591858957 |
1849 | V>G | No |
ClinGen Ensembl |
|
|
CA228727 RCV000086842 rs61750611 |
1849 | V>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6402233 rs775165212 |
1850 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA383493724 rs1363981519 |
1851 | L>F | No |
ClinGen gnomAD |
|
|
CA383493716 rs1234538970 |
1852 | Q>R | No |
ClinGen TOPMed |
|
| COSM1363494 | 1853 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
COSM107468 rs139711566 CA232293292 |
1855 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA6402231 rs770964353 |
1856 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770964353 CA6402230 |
1856 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777597265 CA6402228 CA383493663 |
1860 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM258359 | 1864 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6402224 rs755252307 |
1865 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1469734100 CA383493633 |
1865 | N>S | No |
ClinGen TOPMed |
|
|
rs267603617 CA232293274 |
1866 | S>F | No |
ClinGen ESP TOPMed gnomAD |
|
| COSM1492998 | 1866 | S>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs200461577 CA232293272 |
1867 | F>S | No |
ClinGen Ensembl |
|
|
CA6402223 rs747086590 |
1868 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs780146973 CA6402222 |
1869 | H>P | No |
ClinGen ExAC gnomAD |
|
|
CA383493584 rs1339179561 |
1873 | S>P | No |
ClinGen gnomAD |
|
|
CA6402204 rs747963607 |
1875 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA383493470 rs1346961148 |
1875 | F>V | No |
ClinGen gnomAD |
|
|
CA383493464 rs776478608 |
1876 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776478608 CA6402203 |
1876 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM468736 CA232292998 rs535766882 |
1880 | M>I | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes gnomAD |
|
rs747278782 CA6402201 |
1880 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs780276684 CA6402200 |
1881 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA383493423 rs1191180569 |
1882 | E>K | No |
ClinGen gnomAD |
|
|
rs1482546683 CA383493382 |
1887 | K>R | No |
ClinGen TOPMed |
|
|
rs1321740824 CA383493350 |
1890 | G>A | No |
ClinGen TOPMed |
|
|
rs369450995 CA6402182 |
1891 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6402181 rs745945911 |
1892 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA383493322 rs1591857807 |
1894 | T>I | No |
ClinGen Ensembl |
|
|
rs771450152 CA6402179 |
1896 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1205743847 CA383493312 |
1896 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA6402178 rs749765999 |
1898 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383493300 rs749765999 |
1898 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs559785610 CA6402177 |
1899 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA383493278 rs1240823988 |
1901 | T>A | No |
ClinGen gnomAD |
|
|
CA6402173 rs144757652 |
1902 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6402172 rs749919428 |
1905 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA6402171 rs552647960 |
1907 | D>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6402170 rs761406405 |
1908 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1333156221 CA383493232 |
1908 | G>C | No |
ClinGen gnomAD |
|
|
rs753735116 CA6402169 |
1913 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA6402168 rs532551665 |
1915 | H>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs532551665 CA6402167 |
1915 | H>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772331230 CA383493181 |
1916 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772331230 CA6402165 |
1916 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775318319 CA6402166 |
1916 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA6402164 rs759714903 |
1918 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA383493150 rs563631823 |
1921 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6402162 rs770879215 COSM4044024 |
1921 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
rs563631823 COSM942310 CA6402163 |
1921 | R>W | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1048674696 CA383493145 |
1922 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs749386904 CA6402161 |
1922 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1048674696 CA232292909 |
1922 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs778370191 CA6402160 |
1923 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA383493137 rs1160424430 |
1924 | R>K | No |
ClinGen TOPMed |
|
|
CA383493124 rs1217171079 |
1926 | S>A | No |
ClinGen gnomAD |
|
|
CA232292906 rs375136778 |
1926 | S>L | No |
ClinGen ESP TOPMed |
|
| COSM1323118 | 1927 | C>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs543952558 CA6402159 |
1928 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1379318512 CA383493106 |
1929 | N>T | No |
ClinGen gnomAD |
|
|
rs1565828460 CA383493096 |
1930 | S>N | No |
ClinGen Ensembl |
|
|
CA383493090 rs1359172781 |
1931 | Q>* | No |
ClinGen TOPMed |
|
|
CA6402156 rs574811308 |
1931 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs778657980 CA6402154 |
1932 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1189338901 CA383493076 |
1933 | P>L | No |
ClinGen Ensembl |
|
|
rs372572865 CA232292896 COSM3464072 |
1933 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP NCI-TCGA TOPMed |
|
CA383493063 rs1419551697 |
1935 | K>N | No |
ClinGen gnomAD |
|
|
rs756689204 CA6402153 |
1936 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1938 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs561950510 CA6402152 |
1939 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6402151 rs764001779 |
1940 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383493026 rs1180283088 |
1941 | G>V | No |
ClinGen gnomAD |
|
|
rs1591857674 CA383493016 |
1942 | C>W | No |
ClinGen Ensembl |
|
|
rs1476518821 CA383493011 |
1943 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA383492996 rs1279247258 |
1945 | T>N | No |
ClinGen TOPMed |
|
|
CA383493000 rs1591857666 |
1945 | T>P | No |
ClinGen Ensembl |
|
|
CA383492981 rs1312789020 |
1947 | P>L | No |
ClinGen TOPMed |
|
|
CA383492979 rs1591857651 |
1948 | C>R | No |
ClinGen Ensembl |
|
|
CA383492961 rs216902 |
1948 | C>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1303877251 CA383492965 |
1948 | C>Y | No |
ClinGen gnomAD |
|
|
rs374459416 CA6402134 |
1949 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1306586341 CA383492953 |
1950 | C>G | No |
ClinGen gnomAD |
|
|
rs752540502 CA6402132 |
1951 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs113237579 CA232288778 |
1952 | G>S | No |
ClinGen Ensembl |
|
|
CA6402131 rs767497450 |
1955 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766705058 CA383492917 |
1956 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766705058 CA6402128 |
1956 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763307365 CA6402127 |
1958 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs765357873 CA6402125 |
1959 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6402124 rs762012588 |
1960 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1485631110 CA383492896 |
1960 | T>N | No |
ClinGen TOPMed |
|
|
CA232288752 rs561973646 |
1962 | D>H | No |
ClinGen Ensembl |
|
| TCGA novel | 1963 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA228731 rs267607356 RCV000086845 |
1964 | Q>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1384938802 CA383492869 |
1964 | Q>R | No |
ClinGen gnomAD |
|
|
CA232288747 rs1051967565 |
1967 | K>R | No |
ClinGen Ensembl |
|
|
CA6402123 rs370223669 |
1970 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769219244 CA6402122 |
1971 | S>G | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs747318535 CA6402121 |
1971 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs1258777341 CA383492807 |
1973 | S>F | No |
ClinGen TOPMed |
|
|
rs775987118 CA6402120 |
1974 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1975 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383492776 rs1242982172 |
1978 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 1980 | K>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000086846 rs61750613 CA228733 |
1981 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA383492744 rs1444742012 |
1982 | Q>H | No |
ClinGen gnomAD |
|
|
CA6402119 rs770537385 |
1982 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs748986187 CA6402118 |
1983 | D>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1985 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232288689 rs929527575 |
1985 | E>K | No |
ClinGen Ensembl |
|
| COSM316494 | 1986 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383492720 rs1591849638 |
1986 | V>G | No |
ClinGen Ensembl |
|
|
CA383492723 rs1173806793 |
1986 | V>M | No |
ClinGen gnomAD |
|
|
CA383492709 rs1441478891 |
1988 | L>I | No |
ClinGen gnomAD |
|
|
rs755558381 CA6402116 |
1988 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6402115 rs199924971 |
1989 | H>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs780982814 CA6402114 |
1989 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM1299743 | 1997 | A>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1158262683 CA383492649 |
1997 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1458386111 CA383492646 |
1997 | A>V | No |
ClinGen TOPMed |
|
|
rs755010612 CA6402112 |
1998 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA6402111 rs751282313 |
1999 | Q>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2002 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758292026 CA6402109 |
2005 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383492594 rs758292026 |
2005 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs140229844 CA6402107 |
2006 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM3368912 | 2009 | H>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs993256435 CA232288647 |
2009 | H>R | No |
ClinGen TOPMed |
|
|
CA232288643 rs909621262 |
2010 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs776829848 CA6402105 |
2012 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA6402103 rs761281536 |
2014 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6402101 rs185374140 |
2018 | S>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6402100 rs759901328 |
2019 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs769498397 CA6402098 |
2020 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs769498397 CA6402099 |
2020 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA383492491 rs1187745342 |
2021 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 2022 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232287709 rs772460346 |
2022 | V>A | No |
ClinGen Ensembl |
|
| TCGA novel | 2023 | T>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761576269 CA6402077 |
2023 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2027 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2029 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232287678 rs925533478 |
2030 | S>F | No |
ClinGen TOPMed |
|
|
rs1354387158 CA383492406 |
2032 | P>L | No |
ClinGen gnomAD |
|
|
rs746504900 CA6402074 |
2033 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA6402072 rs772192840 |
2034 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778887346 CA6402070 |
2035 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs186806674 CA6402069 |
2035 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383492393 rs778887346 |
2035 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778887346 CA6402071 |
2035 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777887085 CA6402067 |
2036 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1192524399 CA383492382 |
2037 | N>S | No |
ClinGen gnomAD |
|
|
CA6402064 rs768011948 |
2038 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA6402065 rs752835830 |
2038 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6402063 rs760081155 |
2039 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6402062 rs141949957 |
2041 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA232287639 rs771176447 |
2042 | V>D | No |
ClinGen Ensembl |
|
|
CA6402061 rs779004919 |
2042 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763260567 CA6402060 |
2044 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs183640579 CA6402059 |
2046 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1185879568 CA383492322 |
2046 | I>S | No |
ClinGen TOPMed |
|
|
CA383492304 rs1449892461 |
2049 | E>K | No |
ClinGen gnomAD |
|
|
CA6402058 rs763665546 |
2050 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1199438217 CA383492277 |
2052 | F>L | No |
ClinGen gnomAD |
|
|
CA6402057 rs760247929 |
2053 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs552465061 CA6402056 |
2055 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1212564306 CA383492247 |
2057 | H>P | No |
ClinGen gnomAD |
|
|
rs969961495 CA232287619 |
2060 | T>R | No |
ClinGen Ensembl |
|
|
CA6402055 rs772100394 |
2061 | F>C | No |
ClinGen ExAC |
|
|
rs745846395 CA6402054 RCV001284738 |
2061 | F>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA232287602 rs1023772790 |
2062 | T>I | No |
ClinGen Ensembl |
|
|
rs770716495 CA6402053 |
2063 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383492211 rs61750615 |
2063 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777974428 CA6402051 |
2066 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383492185 rs1399075543 |
2067 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 2067 | E>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383492139 rs1416487399 |
2073 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 2073 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM316496 | 2074 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1055642561 CA232287559 |
2076 | T>S | No |
ClinGen TOPMed |
|
|
rs1172448656 CA383492108 |
2077 | F>L | No |
ClinGen gnomAD |
|
|
rs368207430 CA6402047 |
2081 | T>M | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752022525 CA6402045 |
2083 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs192374602 CA6402044 |
2084 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1285854958 CA383492056 |
2086 | G>R | No |
ClinGen TOPMed |
|
|
rs1015433625 CA232287408 |
2088 | C>W | No |
ClinGen TOPMed |
|
|
rs1413291063 CA383491935 |
2089 | D>G | No |
ClinGen gnomAD |
|
|
CA383491946 rs984855564 |
2089 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs984855564 CA232287404 |
2089 | D>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 2090 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752356198 CA6402019 |
2091 | N>H | No |
ClinGen ExAC gnomAD |
|
|
rs767280593 CA6402018 COSM4044022 |
2092 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
CA6402017 rs149274687 |
2093 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs199546602 CA6402016 |
2094 | N>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA6402015 rs766310019 |
2095 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA383491825 rs1406083255 |
2095 | D>G | No |
ClinGen gnomAD |
|
|
CA383491802 rs1565822889 |
2096 | F>L | No |
ClinGen Ensembl |
|
|
rs762847913 CA6402014 |
2096 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383491793 rs1474078813 |
2097 | M>V | No |
ClinGen gnomAD |
|
|
CA6402013 rs371105544 |
2101 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA232287372 rs907144231 |
2102 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA383491688 rs1591848574 |
2106 | D>H | No |
ClinGen Ensembl |
|
|
rs377640206 COSM3464069 CA6402009 |
2107 | W>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
NCI-TCGA Cosmic ClinGen ESP ExAC TOPMed gnomAD |
|
rs377640206 CA232287339 |
2107 | W>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM396901 | 2112 | Q>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1465018524 CA383491646 |
2112 | Q>E | No |
ClinGen TOPMed |
|
| COSM942308 | 2113 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1320380655 CA383491609 |
2117 | Q>* | No |
ClinGen gnomAD |
|
|
rs1279236701 CA383491607 |
2117 | Q>R | No |
ClinGen gnomAD |
|
|
CA6402005 rs375779188 |
2118 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200719767 COSM1363492 CA6402006 |
2118 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA383491597 rs1295852546 |
2119 | P>Q | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 2120 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383491594 rs1437238974 |
2120 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs779593487 CA6402004 |
2122 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383491575 rs1591848527 |
2123 | C>G | No |
ClinGen Ensembl |
|
|
rs750099637 CA232287304 |
2124 | Q>* | No |
ClinGen Ensembl |
|
| COSM6137639 | 2126 | I>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV000994800 rs71579338 CA6401999 |
2126 | I>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6402000 rs754719008 |
2126 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401998 rs765758844 |
2127 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1198017707 CA383491544 |
2128 | E>Q | No |
ClinGen TOPMed |
|
|
CA228738 rs61750617 RCV000086850 |
2129 | E>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1192883584 CA383491531 |
2129 | E>D | No |
ClinGen gnomAD |
|
|
CA383491537 rs61750617 |
2129 | E>K | No |
ClinGen Ensembl |
|
|
rs1591848498 CA383491510 |
2132 | L>P | No |
ClinGen Ensembl |
|
|
CA383491504 rs1591848493 |
2133 | V>A | No |
ClinGen Ensembl |
|
|
CA6401996 rs750265377 |
2134 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1243328479 COSM5524181 CA383491502 |
2134 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic Ensembl NCI-TCGA |
|
CA6401994 rs146529302 |
2135 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765176386 CA6401995 |
2135 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765176386 CA383491496 |
2135 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383491487 rs1444987834 |
2136 | S>T | No |
ClinGen TOPMed gnomAD |
|
| COSM1323119 | 2137 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383491449 rs1591848468 |
2141 | V>G | No |
ClinGen Ensembl |
|
|
CA6401992 rs190741083 RCV001270610 |
2142 | L>F | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA383491438 rs1591848451 |
2143 | L>R | No |
ClinGen Ensembl |
|
|
rs61750618 CA232287253 |
2145 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6401990 rs61750618 |
2145 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 2149 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383491403 rs1397931528 |
2149 | E>G | No |
ClinGen gnomAD |
|
|
rs1330984328 CA383491365 |
2151 | H>R | No |
ClinGen gnomAD |
|
|
rs1324782158 CA383491371 |
2151 | H>Y | No |
ClinGen TOPMed |
|
|
CA232287247 rs967451925 |
2152 | K>E | No |
ClinGen Ensembl |
|
| COSM4044021 | 2152 | K>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383491328 rs1461260333 |
2153 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA6401986 rs368419568 |
2155 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6401987 rs368419568 |
2155 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1216710216 CA383491282 |
2156 | P>S | No |
ClinGen TOPMed |
|
|
CA383491255 rs1276458189 |
2157 | A>V | No |
ClinGen TOPMed |
|
|
CA6401985 rs201394479 |
2158 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA6401984 rs534005857 |
2159 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA6401981 rs779764302 |
2160 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA6401983 rs756524650 |
2160 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA383491191 rs1238375177 |
2161 | A>T | No |
ClinGen gnomAD |
|
|
CA6401980 rs757791706 |
2162 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1337012217 CA383491074 |
2167 | S>G | No |
ClinGen TOPMed |
|
|
CA383491035 rs1472234775 |
2169 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs752711827 CA232287211 |
2170 | Q>L | No |
ClinGen Ensembl |
|
|
rs572231700 CA232287202 |
2171 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| TCGA novel | 2172 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383490982 rs1211355513 |
2172 | Q>K | No |
ClinGen gnomAD |
|
|
rs1347777555 CA383490954 |
2173 | V>A | No |
ClinGen gnomAD |
|
|
VAR_057026 rs34230288 RCV000760135 CA6401974 |
2178 | A>S | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs34230288 CA6401975 |
2178 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs759518968 CA383490834 |
2180 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401972 rs767792047 |
2180 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA383490824 rs1192085047 |
2181 | A>G | No |
ClinGen TOPMed |
|
|
CA6401969 rs771544504 |
2181 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771544504 CA6401970 |
2181 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749765595 CA6401968 |
2183 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1036690966 CA232287140 |
2188 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1398115517 CA383490694 |
2189 | V>A | No |
ClinGen TOPMed |
|
|
rs756778806 CA6401961 |
2191 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA6401958 rs536264084 |
2195 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1237062592 CA383490653 |
2195 | T>I | No |
ClinGen gnomAD |
|
|
rs536264084 CA6401959 |
2195 | T>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA232287077 rs980083309 |
2196 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1313762681 CA383490647 |
2197 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA6401956 rs767604556 |
2200 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA6401939 rs756142336 |
2205 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA232285728 rs543536638 |
2206 | S>F | No |
ClinGen TOPMed |
|
|
rs1173257947 CA383490239 |
2206 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
RCV000086857 rs61750622 CA228751 |
2207 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1372975560 CA383490231 |
2208 | V>I | No |
ClinGen gnomAD |
|
|
rs752414005 CA6401938 |
2209 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
CA6401937 rs780993393 |
2210 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs754851946 CA6401936 |
2213 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA383490195 rs1213221818 |
2213 | E>K | No |
ClinGen gnomAD |
|
|
rs553943046 CA232285694 |
2214 | H>P | No |
ClinGen Ensembl |
|
|
rs201195374 CA232285701 |
2214 | H>Y | No |
ClinGen gnomAD |
|
|
COSM299625 CA232285690 rs779819874 |
2215 | G>D | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated Ensembl NCI-TCGA |
|
CA6401934 rs766725540 |
2218 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200382972 COSM1363491 CA6401935 |
2218 | R>W | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 2222 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3671155 | 2222 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383490131 rs1269478138 |
2222 | G>V | No |
ClinGen gnomAD |
|
|
rs999435230 CA232285679 |
2223 | N>D | No |
ClinGen TOPMed |
|
|
rs369015684 CA232285674 |
2223 | N>T | No |
ClinGen TOPMed |
|
|
COSM1990345 CA232285640 rs1021756719 |
2224 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
rs142316574 CA6401931 |
2225 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs181987927 CA6401930 |
2226 | S>Y | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA6401929 rs777023647 |
2227 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401928 rs769020774 |
2228 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA383490084 rs1166600444 |
2230 | H>P | No |
ClinGen gnomAD |
|
|
rs1314785780 CA383490081 |
2230 | H>Q | No |
ClinGen TOPMed |
|
| COSM694878 | 2231 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA232285625 rs1041424802 |
2232 | S>P | No |
ClinGen TOPMed |
|
|
CA383490067 rs61750623 |
2233 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
COSM5008067 CA383490068 rs61750623 |
2233 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic NCI-TCGA TOPMed gnomAD |
|
CA228755 rs61750623 RCV000086859 |
2233 | E>Q | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA383490061 rs1485236451 |
2234 | G>S | No |
ClinGen TOPMed |
|
|
rs770625592 CA6401925 |
2237 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs748791680 CA6401924 |
2240 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2240 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6401923 rs777393949 |
2241 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1591847163 CA383489996 |
2243 | M>T | No |
ClinGen Ensembl |
|
|
CA383489999 rs1438129979 |
2243 | M>V | No |
ClinGen gnomAD |
|
|
rs887036932 CA232285586 |
2246 | G>D | No |
ClinGen TOPMed |
|
|
rs1193930321 CA383489975 |
2246 | G>R | No |
ClinGen gnomAD |
|
|
rs1186659967 CA383489953 |
2249 | V>F | No |
ClinGen TOPMed |
|
|
CA6401922 rs769211574 COSM3464067 |
2250 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
rs780997211 CA6401920 |
2255 | T>A | No |
ClinGen ExAC gnomAD |
|
| COSM116280 | 2255 | T>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| TCGA novel | 2256 | Q>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6401918 rs200300292 |
2256 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383489904 rs1159132894 |
2256 | Q>L | No |
ClinGen TOPMed |
|
|
CA228757 rs62643638 RCV000086860 |
2257 | C>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6401917 rs780422165 |
2258 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147715696 CA6401915 |
2262 | G>R | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1565821977 CA383489773 |
2265 | H>Y | No |
ClinGen Ensembl |
|
|
CA6401914 rs765308636 |
2266 | Q>K | No |
ClinGen ExAC gnomAD |
|
| COSM4209944 | 2267 | F>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6401890 rs759824731 |
2269 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418265659 CA383488812 |
2270 | A>T | No |
ClinGen TOPMed |
|
|
CA6401889 rs772864135 |
2272 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA6401887 rs761386093 |
2273 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA383488785 rs1293058536 |
2274 | D>Y | No |
ClinGen gnomAD |
|
|
rs776323909 CA383488629 |
2275 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs767257065 CA232280710 |
2277 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1301588391 CA383488603 |
2279 | Q>R | No |
ClinGen TOPMed |
|
|
CA232280699 rs760493208 |
2280 | I>V | No |
ClinGen Ensembl |
|
|
CA6401884 rs746891722 |
2282 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs775597704 CA6401883 |
2282 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383488559 rs745659470 |
2285 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757486690 CA6401879 COSM3464066 |
2286 | G>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
CA6401880 rs779181955 |
2286 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401878 rs61750625 |
2287 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs563856279 CA6401877 COSM1990342 |
2287 | R>Q | pancreas [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA383488547 rs1565819778 |
2288 | K>R | No |
ClinGen Ensembl |
|
|
CA6401876 rs753138371 |
2291 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs540687510 CA232280566 |
2292 | T>A | No |
ClinGen gnomAD |
|
|
rs755358165 CA6401874 |
2292 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755358165 CA383488520 |
2292 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs879859172 CA232280550 |
2293 | T>A | No |
ClinGen Ensembl |
|
|
CA6401873 rs142921275 |
2293 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1212181276 CA383488501 |
2295 | P>L | No |
ClinGen gnomAD |
|
|
rs201372397 RCV001284739 CA6401871 |
2297 | P>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA6401870 rs774051063 |
2298 | T>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs573454985 CA232280518 |
2299 | A>V | No |
ClinGen TOPMed gnomAD |
|
| COSM3464063 | 2302 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1478398589 CA383488452 |
2302 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs149432685 CA6401846 |
2303 | T>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383488446 rs1271088495 |
2303 | T>P | No |
ClinGen gnomAD |
|
|
rs1241346987 CA383488423 |
2307 | C>R | No |
ClinGen gnomAD |
|
|
CA383488421 rs1317722592 |
2307 | C>Y | No |
ClinGen gnomAD |
|
|
rs781181388 CA6401841 |
2308 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA6401842 rs748199105 |
2308 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM942307 | 2308 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA228764 rs267607357 RCV000086864 |
2311 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA090911 RCV001284740 rs184921605 RCV001819976 |
2313 | R>C | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs184921605 CA6401839 |
2313 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1454935692 CA383488383 |
2314 | Q>* | No |
ClinGen gnomAD |
|
|
CA6401838 rs777559810 |
2314 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232279994 rs866378298 |
2316 | A>V | No |
ClinGen Ensembl |
|
|
CA6401837 rs755869272 |
2317 | D>E | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs138618444 CA232279993 |
2317 | D>N | No |
ClinGen ESP TOPMed |
|
|
rs1417651109 CA383488348 |
2319 | C>Y | No |
ClinGen gnomAD |
|
|
CA6401836 rs543900335 |
2321 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs543900335 CA383488334 |
2321 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| COSM694879 | 2322 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6401834 rs201792015 |
2322 | E>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1284592964 CA383488308 |
2324 | E>D | No |
ClinGen TOPMed gnomAD |
|
| COSM3464062 | 2324 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383488305 rs1256082707 |
2325 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 2326 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232291188 rs997267903 |
2326 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs764980510 CA6401809 |
2327 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6401808 rs761604234 |
2330 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776655299 CA6401807 |
2331 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1245761195 CA383491998 |
2332 | C>Y | No |
ClinGen TOPMed |
|
|
CA6401806 rs764430521 |
2335 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs775676532 CA6401804 |
2336 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA6401801 rs775029177 |
2337 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs61750628 RCV000086867 CA228769 |
2340 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs142612858 CA232291155 |
2342 | R>C | No |
ClinGen ESP TOPMed |
|
|
rs34120165 CA6401800 RCV000759403 |
2342 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs34120165 CA232291147 |
2342 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs61750629 CA383491897 |
2343 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA228771 rs61750629 RCV000086868 |
2343 | G>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA6401798 rs780706642 |
2346 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232291134 rs967443310 |
2350 | N>S | No |
ClinGen Ensembl |
|
|
rs1339970856 CA383491826 |
2351 | P>T | No |
ClinGen gnomAD |
|
|
CA383491816 rs1250729377 |
2352 | G>D | No |
ClinGen gnomAD |
|
|
CA6401794 rs112319661 RCV001284741 RCV002509649 |
2353 | E>D | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1340222881 CA383491806 |
2353 | E>G | No |
ClinGen TOPMed |
|
|
CA6401795 rs779492794 |
2353 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1439719475 CA383491801 |
2354 | C>G | No |
ClinGen gnomAD |
|
|
rs1431522746 CA383491795 |
2354 | C>S | No |
ClinGen Ensembl |
|
|
CA383491779 rs1281774203 |
2355 | R>S | No |
ClinGen TOPMed |
|
|
rs750296925 CA232291116 |
2357 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750296925 CA383491762 |
2357 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750296925 CA6401793 |
2357 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383491737 rs1331271302 |
2359 | T>I | No |
ClinGen gnomAD |
|
| rs557817663 | 2361 | A>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383491720 rs1396364240 |
2361 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| COSM431626 | 2361 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001284742 rs1943611695 |
2362 | C>W | No |
ClinVar dbSNP |
|
| TCGA novel | 2366 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6401764 rs763471709 |
2366 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs773625561 CA6401763 |
2368 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2369 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383491303 rs1254154100 |
2369 | R>T | No |
ClinGen TOPMed |
|
|
rs770133697 CA6401762 |
2370 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA383491284 rs1483383834 |
2371 | S>F | No |
ClinGen TOPMed |
|
|
rs148908677 CA6401761 |
2373 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1413320081 CA383491258 |
2374 | S>F | No |
ClinGen gnomAD |
|
|
CA383491264 rs1422237266 |
2374 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1471489623 CA383491249 |
2375 | C>F | No |
ClinGen gnomAD |
|
|
CA383491250 rs1471489623 |
2375 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 2375 | C>W | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383491244 rs775107211 |
2376 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401760 rs775107211 |
2376 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401759 rs368646629 |
2377 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| rs267607359 | 2378 | H>A | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464150286 CA383491224 |
2378 | H>P | No |
ClinGen TOPMed gnomAD |
|
|
CA6401757 rs758156301 COSM1363489 |
2379 | R>H | large_intestine central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs758156301 CA383491212 |
2379 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758156301 CA383491213 |
2379 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267607361 RCV000086874 |
2380 | L>missing | No |
ClinVar dbSNP |
|
|
CA383491204 RCV000595338 rs1335944944 |
2380 | L>F | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA6401756 rs749206995 |
2382 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383491190 rs1227113669 |
2382 | T>I | No |
ClinGen gnomAD |
|
| COSM431624 | 2382 | T>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383491194 rs749206995 |
2382 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000986086 rs150201871 CA6401753 COSM4044017 |
2384 | R>Q | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs145697622 CA6401754 |
2384 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 2388 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA228778 RCV000086875 rs61751285 |
2392 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1342989518 CA383491082 |
2392 | Y>C | No |
ClinGen TOPMed |
|
|
rs181290699 CA6401750 |
2392 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA6401749 rs766444913 |
2393 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1403529326 CA383491066 |
2393 | E>D | No |
ClinGen gnomAD |
|
|
CA383491058 rs1288690774 |
2394 | C>Y | No |
ClinGen gnomAD |
|
|
rs982803482 CA232290506 |
2395 | A>T | No |
ClinGen Ensembl |
|
|
RCV001284743 rs1943610160 |
2395 | A>V | No |
ClinVar dbSNP |
|
|
rs966234326 CA232290500 |
2398 | C>R | No |
ClinGen TOPMed |
|
|
CA383490991 rs1453586785 |
2400 | N>H | No |
ClinGen TOPMed |
|
|
rs750888785 CA383490987 |
2400 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401747 rs750888785 |
2400 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401745 rs762156577 |
2403 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6401746 rs147705313 |
2403 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767130840 CA6401743 |
2404 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777016887 CA6401744 |
2404 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6401742 rs759137155 |
2404 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA6401741 rs774020679 |
2406 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM4404862 | 2406 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
RCV001284744 CA6401739 rs201494706 |
2407 | L>P | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA383490899 rs1165701382 |
2409 | Y>F | No |
ClinGen TOPMed |
|
|
rs748759913 CA6401738 |
2409 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs773187867 CA6401737 |
2411 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591841504 CA383490883 |
2411 | A>P | No |
ClinGen Ensembl |
|
|
CA383490869 rs747934541 |
2413 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1292717444 CA383490863 |
2413 | T>I | No |
ClinGen gnomAD |
|
|
CA383490867 rs747934541 |
2413 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs747934541 CA6401735 |
2413 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs754853953 CA232290455 |
2414 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA232290452 rs905814542 |
2414 | A>V | No |
ClinGen TOPMed |
|
|
CA383490849 rs1374179815 |
2415 | T>I | No |
ClinGen gnomAD |
|
|
CA6401732 rs747165661 |
2416 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780157825 CA6401731 |
2418 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs758495824 CA6401730 |
2420 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA383490794 rs1454439899 |
2420 | C>W | No |
ClinGen gnomAD |
|
|
rs750530966 CA6401729 |
2421 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA383490782 rs1189815687 |
2422 | T>A | No |
ClinGen gnomAD |
|
|
rs1189815687 CA383490784 |
2422 | T>P | No |
ClinGen gnomAD |
|
|
rs957015244 CA232290437 |
2423 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs765740267 CA6401728 |
2424 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA383490756 rs1358481418 |
2425 | C>Y | No |
ClinGen TOPMed |
|
|
rs764400779 CA6401725 |
2428 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs754363583 CA6401726 |
2428 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401707 rs756456376 |
2430 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA383490602 RCV000994796 rs1591838900 |
2431 | C>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs62643639 RCV000086876 |
2432 | V>missing | No |
ClinVar dbSNP |
|
|
rs62643640 CA232287713 |
2434 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs370600984 CA6401706 COSM171123 |
2434 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1158859952 CA383490580 |
2435 | S>R | No |
ClinGen gnomAD |
|
|
CA383490568 rs1456012153 |
2436 | T>I | No |
ClinGen gnomAD |
|
| COSM267754 | 2440 | V>M | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs62643641 CA228783 RCV000086878 |
2441 | G>C | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1254166562 CA383490538 |
2441 | G>D | No |
ClinGen gnomAD |
|
|
rs62643641 CA6401704 |
2441 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs139290955 CA6401703 |
2442 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA232287680 rs920817475 |
2442 | Q>R | No |
ClinGen gnomAD |
|
|
rs764775440 CA6401702 |
2443 | F>S | No |
ClinGen ExAC gnomAD |
|
| COSM286486 | 2444 | W>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs760482755 CA6401698 |
2449 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 2450 | V>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2451 | C>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775194189 CA6401697 |
2453 | C>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 2453 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6401696 rs200486416 |
2454 | T>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200486416 CA6401695 |
2454 | T>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383490447 rs200486416 |
2454 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs763541335 CA6401693 |
2455 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763541335 CA6401692 |
2455 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778247950 CA6401691 |
2456 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM1704931 | 2458 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs149677556 CA232287616 |
2460 | V>M | No |
ClinGen ESP TOPMed |
|
|
rs1271686320 CA383490387 |
2463 | L>H | No |
ClinGen TOPMed |
|
|
CA6401686 COSM96813 rs373896832 |
2464 | R>H | Variant assessed as Somatic; MODERATE impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs373896832 CA6401687 |
2464 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383490382 rs373896832 |
2464 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs267607362 CA228785 RCV000086879 |
2465 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs375655409 CA6401684 |
2465 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs775525534 CA6401682 |
2475 | D>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2475 | D>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs61751289 CA228794 RCV000086884 |
2477 | C>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs61751289 RCV000086883 CA228792 |
2477 | C>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 2478 | R>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs111752224 CA383490290 |
2478 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111752224 CA6401680 |
2478 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs771694902 CA6401681 COSM84130 |
2478 | R>W | Variant assessed as Somatic; MODERATE impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs774541336 CA6401679 |
2479 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401678 rs771209761 |
2479 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1172235742 | 2480 | G>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA232284673 rs893467050 |
2482 | T>S | No |
ClinGen gnomAD |
|
|
CA383489854 rs1375716785 |
2483 | Y>N | No |
ClinGen gnomAD |
|
|
rs61751291 RCV000086887 |
2484 | V>missing | No |
ClinVar dbSNP |
|
|
CA383489820 rs1312908190 RCV001284745 |
2486 | H>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs748315151 CA383489812 |
2487 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748315151 CA6401658 |
2487 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401657 rs776996931 |
2488 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA383489803 rs776996931 |
2488 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs949209563 CA232284625 |
2489 | E>D | No |
ClinGen TOPMed |
|
|
rs769241795 CA6401656 |
2489 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401655 rs747351776 |
2490 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA383489743 rs1174500026 COSM942306 |
2493 | R>S | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA gnomAD |
|
CA232284601 rs1040897547 |
2496 | P>L | No |
ClinGen Ensembl |
|
|
CA383489720 rs1237966741 |
2496 | P>T | No |
ClinGen TOPMed |
|
|
CA383489711 rs1193489623 |
2497 | S>F | No |
ClinGen TOPMed |
|
|
RCV000086888 CA228800 rs61751292 |
2497 | S>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 2499 | C>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383489701 rs1416647748 |
2499 | C>Y | No |
ClinGen gnomAD |
|
|
CA6401652 rs777584185 |
2501 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA6401651 rs755568210 |
2502 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs181094101 CA6401649 COSM1232477 |
2506 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC gnomAD |
|
CA383489654 rs762748393 |
2507 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401645 rs762748393 |
2507 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1270327 rs368286307 CA6401646 |
2507 | R>W | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 2509 | D>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1591836920 CA383489644 |
2509 | D>G | No |
ClinGen Ensembl |
|
|
CA6401644 rs757915054 |
2509 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383489646 rs757915054 |
2509 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM3464060 | 2510 | S>F | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA6401643 rs543595163 |
2512 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
| COSM4044016 | 2512 | S>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs938759382 CA232284504 |
2514 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1209709476 CA383489599 |
2515 | K>N | No |
ClinGen gnomAD |
|
|
CA6401642 rs761764663 |
2516 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs768645164 CA6401641 |
2516 | S>R | No |
ClinGen ExAC gnomAD |
|
| rs145955543 | 2517 | V>= | Variant assessed as Somatic; LOW impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1403041223 CA383489578 |
2517 | V>D | No |
ClinGen gnomAD |
|
|
rs971026321 CA383489573 RCV000759405 |
2518 | G>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA232282157 rs971026321 |
2518 | G>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
RCV000086889 rs61751293 CA228802 |
2518 | G>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1347031870 CA383489569 |
2519 | S>A | No |
ClinGen TOPMed |
|
|
CA383489568 rs1223683041 |
2519 | S>F | No |
ClinGen TOPMed |
|
|
rs1347031870 CA383489570 |
2519 | S>P | No |
ClinGen TOPMed |
|
|
rs1448479214 CA383489563 |
2520 | Q>* | No |
ClinGen gnomAD |
|
|
RCV000086890 rs61751294 CA228804 |
2520 | Q>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA383489556 rs1282400728 |
2521 | W>G | No |
ClinGen TOPMed |
|
|
CA383489548 rs1025645485 |
2522 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA232282139 rs1025645485 |
2522 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA6401613 rs374690023 |
2524 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1009015592 CA232282137 |
2524 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 2525 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2525 | E>G | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383489530 rs1481550936 |
2525 | E>G | No |
ClinGen TOPMed |
|
|
CA383489534 rs1249655559 |
2525 | E>K | No |
ClinGen TOPMed |
|
|
rs779932835 CA6401611 COSM431621 |
2526 | N>K | Variant assessed as Somatic; MODERATE impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
CA383489523 rs1591835834 |
2526 | N>T | No |
ClinGen Ensembl |
|
| COSM1363488 | 2527 | P>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs758376829 CA6401610 |
2527 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758376829 CA383489519 |
2527 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369878547 CA6401609 |
2530 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757011174 CA6401607 |
2531 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000086891 CA228806 rs61751295 |
2533 | C>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs754037205 CA6401606 |
2534 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs137987906 CA6401605 |
2535 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1368057909 CA383489459 |
2536 | V>G | No |
ClinGen gnomAD |
|
|
rs1325900198 CA383489443 |
2538 | E>D | No |
ClinGen gnomAD |
|
|
CA6401604 rs752865231 |
2539 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA383489438 rs752865231 |
2539 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs201213029 RCV000986089 CA232282025 |
2542 | I>K | No |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
|
rs1565813254 CA383489417 |
2542 | I>M | No |
ClinGen Ensembl |
|
|
rs201213029 CA383489418 |
2542 | I>R | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA6401602 rs532963814 |
2542 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA383489414 rs1368264172 |
2543 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs774724224 CA6401601 |
2543 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1263673651 CA383489385 |
2547 | V>A | No |
ClinGen gnomAD |
|
|
CA6401599 rs763283384 |
2547 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM3792876 | 2548 | S>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1473847291 CA383489378 |
2548 | S>F | No |
ClinGen gnomAD |
|
|
CA383489382 rs1591835785 |
2548 | S>P | No |
ClinGen Ensembl |
|
|
CA232281967 rs376366370 |
2550 | P>L | No |
ClinGen ESP TOPMed |
|
|
CA6401598 rs776340794 |
2551 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776340794 CA383489364 |
2551 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 2551 | Q>P | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383489353 rs1482129712 |
2552 | L>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 2553 | E>D | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1211095597 CA383489352 |
2553 | E>K | No |
ClinGen gnomAD |
|
|
rs1272582929 CA383489340 |
2554 | V>A | No |
ClinGen TOPMed |
|
|
rs915754316 CA232281955 |
2555 | P>R | No |
ClinGen TOPMed |
|
|
rs372582651 CA6401596 |
2556 | V>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs774929265 CA6401595 |
2557 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA6401593 rs373158962 |
2558 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202068340 CA6401594 |
2558 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM694881 rs778732929 CA6401592 |
2559 | S>L | lung Variant assessed as Somatic; MODERATE impact. urinary_tract [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
rs749106300 CA383489311 |
2560 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749106300 CA6401590 |
2560 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61751300 RCV000086897 |
2562 | Q>missing | No |
ClinVar dbSNP |
|
| TCGA novel | 2562 | Q>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM4044015 | 2562 | Q>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1407559775 CA383489291 |
2563 | L>V | No |
ClinGen gnomAD |
|
|
CA6401586 rs767664790 |
2564 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs752093211 CA383489250 |
2569 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs926673879 CA232281808 |
2569 | A>P | No |
ClinGen Ensembl |
|
| TCGA novel | 2569 | A>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752093211 CA6401584 |
2569 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383489248 rs1318746837 |
2570 | C>S | No |
ClinGen TOPMed |
|
|
CA383489235 rs1258347142 |
2571 | C>F | No |
ClinGen gnomAD |
|
|
rs368810263 CA232281781 |
2572 | P>S | No |
ClinGen ESP TOPMed |
|
|
rs192262780 CA232281770 |
2573 | S>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA TOPMed gnomAD |
|
CA383489215 rs1374402576 |
2574 | C>F | No |
ClinGen gnomAD |
|
|
CA383489219 rs1475565311 |
2574 | C>R | No |
ClinGen gnomAD |
|
|
rs375991463 CA6401582 COSM4400461 |
2575 | R>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA6401581 rs373321657 |
2575 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770499408 CA6401556 |
2578 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401557 rs770499408 |
2578 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383489172 COSM116956 rs1182430540 |
2579 | M>I | ovary [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA6401555 rs762759559 |
2580 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA232280465 rs1022335649 |
2581 | A>T | No |
ClinGen Ensembl |
|
|
rs769698712 CA6401553 |
2583 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs371687405 CA6401554 |
2583 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371687405 CA383489150 |
2583 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383489141 rs1471476983 |
2584 | L>F | No |
ClinGen TOPMed |
|
|
rs781531963 CA6401551 |
2586 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs747274989 CA6401549 |
2588 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs750868060 CA232280401 |
2589 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA6401547 rs374131634 |
2589 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374131634 CA6401548 |
2589 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6401545 rs779457972 |
2590 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779457972 CA232280351 |
2590 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401516 rs142316324 COSM694883 |
2592 | G>R | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1565812456 CA383489079 |
2593 | K>E | No |
ClinGen Ensembl |
|
|
COSM3464059 rs772325737 CA6401511 |
2598 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA gnomAD |
|
CA383489037 rs1161174703 |
2599 | V>L | No |
ClinGen gnomAD |
|
|
CA6401509 rs774367706 |
2600 | C>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2600 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6401507 rs138303680 |
2601 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383489020 rs1368628558 |
2602 | T>P | No |
ClinGen gnomAD |
|
|
rs760515060 COSM165536 CA6401503 |
2604 | R>C | NS [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs147052620 CA6401502 |
2604 | R>H | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1591834887 CA383488991 |
2606 | M>K | No |
ClinGen Ensembl |
|
|
CA383488975 rs1250279064 |
2608 | Q>R | No |
ClinGen gnomAD |
|
|
CA6401500 rs764771186 |
2609 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750127803 CA6401501 |
2609 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs753701276 CA6401498 |
2612 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA383488954 rs1357145368 |
2612 | I>V | No |
ClinGen gnomAD |
|
|
rs866581131 CA232279471 |
2614 | G>E | No |
ClinGen Ensembl |
|
|
rs1244038792 CA383488931 |
2615 | F>L | No |
ClinGen gnomAD |
|
|
rs764162698 CA6401497 |
2616 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA6401495 rs371948517 RCV000852219 |
2617 | L>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6401493 rs759715664 |
2618 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs774563410 CA6401492 |
2621 | K>* | No |
ClinGen ExAC gnomAD |
|
|
CA6401490 rs141666705 |
2626 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6401489 rs773560179 |
2627 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1591834843 CA383488855 |
2627 | C>Y | No |
ClinGen Ensembl |
|
|
rs1027354339 CA232279382 |
2628 | P>S | No |
ClinGen Ensembl |
|
| COSM1493000 | 2629 | L>P | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs112100565 CA232279353 |
2629 | L>Q | No |
ClinGen Ensembl |
|
|
CA232279344 rs112100565 |
2629 | L>R | No |
ClinGen Ensembl |
|
|
CA383488844 rs1475306001 |
2629 | L>V | No |
ClinGen gnomAD |
|
|
rs781166200 CA6401456 |
2630 | G>D | No |
ClinGen ExAC gnomAD |
|
| COSM1990316 | 2633 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs751403940 CA6401454 |
2633 | E>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2634 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6401453 rs201953086 |
2635 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA383487787 rs750614443 |
2639 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401450 rs765299984 |
2641 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2643 | R>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383487760 rs1268276578 |
2643 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 2644 | C>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761852479 CA6401449 |
2645 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA6401448 rs777271299 |
2645 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA383487740 rs1327877879 |
2646 | P>L | No |
ClinGen TOPMed |
|
|
rs553284346 CA232266985 |
2646 | P>S | No |
ClinGen Ensembl |
|
|
rs769324223 CA6401447 |
2647 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA6401445 rs202052078 |
2649 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs777305420 CA6401443 |
2650 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs777305420 CA383487722 |
2650 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1176742312 CA383487716 |
2651 | I>V | No |
ClinGen gnomAD |
|
|
RCV001290764 rs1943217420 |
2653 | L>missing | No |
ClinVar dbSNP |
|
|
rs769335635 CA6401442 |
2655 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1043399177 CA232266935 |
2656 | G>R | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| rs768488894 | 2656 | G>missing | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1473571630 CA383487666 |
2658 | I>M | No |
ClinGen TOPMed |
|
|
rs199968654 CA383487650 |
2661 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383487641 rs1411072226 |
2662 | K>R | No |
ClinGen TOPMed |
|
|
rs370662678 CA6401425 |
2663 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA6401424 rs149834874 |
2663 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs149834874 CA232265866 |
2663 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383487621 rs1313337406 |
2664 | D>A | No |
ClinGen gnomAD |
|
|
CA232265853 rs906594101 |
2664 | D>N | No |
ClinGen TOPMed |
|
| COSM694884 | 2666 | T>A | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383487588 COSM1676657 rs1451640262 |
2669 | D>N | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA6401419 rs746890802 |
2670 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1428401301 CA383487558 |
2673 | T>I | No |
ClinGen gnomAD |
|
|
CA383487549 rs1444201656 |
2674 | H>Q | No |
ClinGen gnomAD |
|
| COSM3464057 | 2678 | V>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs377514450 CA6401417 |
2679 | N>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA383487505 rs1157064128 |
2680 | E>D | No |
ClinGen TOPMed |
|
|
CA6401415 rs538486039 |
2682 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs144511926 CA6401414 |
2683 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 2685 | F>S | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383487463 rs1484884716 |
2686 | W>L | No |
ClinGen gnomAD |
|
| COSM3464056 | 2687 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
| COSM3464055 | 2689 | R>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs200389567 CA6401413 |
2690 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1358240846 CA383487426 |
2691 | T>I | No |
ClinGen gnomAD |
|
|
rs62641243 CA228823 RCV000086903 |
2693 | C>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6401410 rs76459136 COSM213831 |
2695 | P>L | breast [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs774529699 CA6401407 |
2696 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1381011008 CA383487389 |
2697 | D>E | No |
ClinGen gnomAD |
|
|
CA383487384 rs1370409927 |
2698 | E>A | No |
ClinGen gnomAD |
|
|
CA383487387 rs1480797105 |
2698 | E>K | No |
ClinGen gnomAD |
|
|
rs1424122226 CA383487374 |
2699 | H>Q | No |
ClinGen gnomAD |
|
|
COSM942305 CA383487353 rs1307171312 |
2702 | L>P | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated NCI-TCGA TOPMed |
| TCGA novel | 2703 | A>V | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 2708 | I>L | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
| COSM3464054 | 2709 | M>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1361042571 CA383487300 |
2709 | M>L | No |
ClinGen gnomAD |
|
|
CA6401388 rs766672651 |
2710 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| COSM1704929 | 2712 | P>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383487247 rs1565806605 |
2716 | C>* | No |
ClinGen Ensembl |
|
|
CA6401387 rs763365172 |
2716 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs1249405500 CA383487251 |
2716 | C>Y | No |
ClinGen gnomAD |
|
|
CA383487242 rs1375621314 |
2717 | D>G | No |
ClinGen TOPMed |
|
|
rs1194377444 CA383487244 |
2717 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1315438499 CA383487214 |
2719 | C>F | No |
ClinGen gnomAD |
|
|
rs1565806592 RCV000759408 CA383487230 |
2719 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6401366 rs765610294 |
2720 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA6401364 rs752402059 |
2721 | E>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000086906 rs62641244 RCV001804839 CA228827 COSM84129 |
2722 | P>A | pancreas [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
| COSM4340402 | 2722 | P>T | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383487192 rs1476520970 |
2723 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 2724 | C>Y | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1363486 rs530699221 CA232258860 |
2725 | N>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed |
|
rs774426276 CA6401362 COSM1990307 |
2726 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic ExAC NCI-TCGA TOPMed gnomAD |
|
CA383487160 rs1161230702 |
2727 | I>V | No |
ClinGen TOPMed |
|
| COSM6073217 | 2728 | T>I | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs199871749 CA232258846 |
2728 | T>S | No |
ClinGen 1000Genomes |
|
|
RCV000086908 rs267607367 |
2730 | R>missing | No |
ClinVar dbSNP |
|
|
rs762820546 CA6401360 TCGA novel |
2730 | R>S | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
rs1443181806 CA383487130 |
2732 | Q>P | No |
ClinGen gnomAD |
|
|
rs773094944 CA6401359 |
2733 | Y>C | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2737 | G>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416998754 CA383487072 |
2740 | K>M | No |
ClinGen Ensembl |
|
| TCGA novel | 2741 | S>V | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA6401357 rs776969304 |
2743 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA6401358 rs748259003 |
2743 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 2746 | D>G | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA383487025 rs1360376008 |
2747 | I>T | No |
ClinGen gnomAD |
|
|
CA6401356 rs768614382 |
2748 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA383486983 rs1244883314 |
2751 | Q>R | No |
ClinGen gnomAD |
|
|
CA383486926 rs1406175363 |
2752 | G>S | No |
ClinGen gnomAD |
|
|
rs764927154 CA6401341 |
2753 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs61751306 CA228840 RCV000086913 |
2754 | C>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA383486897 rs1218734303 |
2754 | C>Y | No |
ClinGen TOPMed |
|
|
rs959332198 CA232258320 |
2758 | A>T | No |
ClinGen Ensembl |
|
|
CA6401340 rs144542595 RCV000759409 |
2758 | A>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA383486792 rs1355961536 |
2762 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs775506247 CA6401336 COSM942304 |
2766 | D>N | Variant assessed as Somatic; MODERATE impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ExAC NCI-TCGA gnomAD |
|
CA383486730 rs1481081229 |
2767 | V>E | No |
ClinGen gnomAD |
|
|
rs772146195 CA6401335 |
2768 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383486715 rs865914426 |
2769 | D>H | No |
ClinGen Ensembl |
|
| COSM694887 | 2769 | D>N | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA232258256 rs865914426 |
2769 | D>Y | No |
ClinGen Ensembl |
|
|
rs61751307 RCV000086914 CA228842 |
2771 | C>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000086915 rs61751308 CA228844 |
2771 | C>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA383486662 rs1453219361 |
2772 | S>P | No |
ClinGen gnomAD |
|
|
rs61751309 RCV000086916 |
2773 | C>missing | No |
ClinVar dbSNP |
|
|
RCV000086918 rs61751311 CA228847 |
2773 | C>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA6401333 rs376285757 |
2775 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA228849 COSM3384553 RCV000086919 rs61751312 |
2776 | P>L | upper_aerodigestive_tract ovary pancreas [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM298946 CA6401329 rs150577615 RCV001283880 |
2778 | R>Q | Variant assessed as Somatic; MODERATE impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6401330 COSM376165 RCV000759411 rs368634026 |
2778 | R>W | lung Variant assessed as Somatic; MODERATE impact. oesophagus [Cosmic, NCI-TCGA] | No |
ClinGen NCI-TCGA Cosmic cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA6401328 rs765927433 |
2779 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309953703 CA383486575 |
2780 | E>K | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
RCV000086920 CA228851 rs61751313 |
2781 | P>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1375008704 CA383486552 |
2782 | M>L | No |
ClinGen gnomAD |
|
|
CA383486540 rs1172733830 |
2782 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1298396777 CA383486531 |
2783 | Q>* | No |
ClinGen gnomAD |
|
|
rs1441108589 CA383486524 |
2783 | Q>H | No |
ClinGen gnomAD |
|
|
CA383486511 rs1216075007 |
2785 | A>S | No |
ClinGen TOPMed |
|
|
CA383486505 COSM3671154 rs1353102739 |
2786 | L>M | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA383486498 rs1339157537 |
2786 | L>R | No |
ClinGen gnomAD |
|
|
rs765259491 CA383486488 |
2787 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765259491 CA6401325 |
2787 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1470571061 CA383486493 |
2787 | H>Y | No |
ClinGen gnomAD |
|
|
rs371036946 CA6401321 |
2789 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| COSM4044013 | 2791 | G>C | Variant assessed as Somatic; MODERATE impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
CA383486444 rs1591826627 |
2791 | G>S | No |
ClinGen Ensembl |
|
|
CA383486423 rs1408905191 |
2792 | S>F | No |
ClinGen gnomAD |
|
|
RCV000756906 CA6401320 RCV000500840 rs143743709 |
2793 | V>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA6401319 rs772129534 |
2794 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA232258057 rs1047560782 |
2794 | V>M | No |
ClinGen Ensembl |
|
| COSM5681222 | 2797 | E>* | Variant assessed as Somatic; HIGH impact. [NCI-TCGA] | No | NCI-TCGA Cosmic |
|
rs1439617045 CA383486332 |
2799 | L>F | No |
ClinGen TOPMed |
|
|
CA232258015 rs930440664 |
2799 | L>R | No |
ClinGen Ensembl |
|
|
rs267607369 CA228853 RCV000086921 |
2801 | A>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA232257994 rs267607369 |
2801 | A>V | No |
ClinGen Ensembl |
|
|
rs1591826600 CA383486305 |
2802 | M>V | No |
ClinGen Ensembl |
|
|
CA383486260 rs1205378828 |
2804 | C>* | No |
ClinGen gnomAD |
|
|
CA228855 RCV000086922 rs267607370 |
2804 | C>Y | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
RCV000086923 rs267607371 |
2805 | K>missing | No |
ClinVar dbSNP |
|
|
CA383486253 rs1403749521 |
2805 | K>R | No |
ClinGen TOPMed |
|
|
RCV000086924 rs267607372 CA228858 |
2806 | C>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA383486232 rs1461682673 |
2807 | S>P | No |
ClinGen gnomAD |
|
|
CA232257977 rs990713039 |
2807 | S>Y | No |
ClinGen Ensembl |
|
|
rs774693533 CA6401317 |
2808 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA232257957 rs938017810 |
2810 | K>R | No |
ClinGen gnomAD |
|
|
rs771517718 CA6401316 |
2811 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA383486178 rs1222824162 |
2812 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
rs138263930 CA232257948 |
2813 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA383486162 rs1374246873 |
2813 | K>R | No |
ClinGen gnomAD |
|
|
rs778161123 CA6401314 |
2814 | K>W | No |
ClinGen ExAC gnomAD |
No associated diseases with P04275
9 regional properties for P04275
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Protein kinase domain | 349 - 609 | IPR000719 |
| domain | Serine-threonine/tyrosine-protein kinase, catalytic domain | 351 - 605 | IPR001245 |
| domain | Protein kinase C-like, phorbol ester/diacylglycerol-binding domain | 138 - 186 | IPR002219 |
| domain | Raf-like Ras-binding | 56 - 131 | IPR003116 |
| active_site | Serine/threonine-protein kinase, active site | 464 - 476 | IPR008271 |
| binding_site | Protein kinase, ATP binding site | 355 - 375 | IPR017441 |
| domain | Diacylglycerol/phorbol-ester binding | 136 - 150 | IPR020454-1 |
| domain | Diacylglycerol/phorbol-ester binding | 152 - 172 | IPR020454-2 |
| domain | Diacylglycerol/phorbol-ester binding | 173 - 185 | IPR020454-3 |
Functions
| Description | ||
|---|---|---|
| EC Number | ||
| Subcellular Localization |
|
|
| PANTHER Family | PTHR11339 | EXTRACELLULAR MATRIX GLYCOPROTEIN RELATED |
| PANTHER Subfamily | PTHR11339:SF361 | VON WILLEBRAND FACTOR |
| PANTHER Protein Class | extracellular matrix protein | |
| PANTHER Pathway Category |
Inflammation mediated by chemokine and cytokine signaling pathway EMC Blood coagulation vWF |
|
9 GO annotations of cellular component
| Name | Definition |
|---|---|
| collagen-containing extracellular matrix | An extracellular matrix consisting mainly of proteins (especially collagen) and glycosaminoglycans (mostly as proteoglycans) that provides not only essential physical scaffolding for the cellular constituents but can also initiate crucial biochemical and biomechanical cues required for tissue morphogenesis, differentiation and homeostasis. The components are secreted by cells in the vicinity and form a sheet underlying or overlying cells such as endothelial and epithelial cells. |
| 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). |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| extracellular matrix | A structure lying external to one or more cells, which provides structural support, biochemical or biomechanical cues for cells or tissues. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| platelet alpha granule | A secretory organelle found in blood platelets, which is unique in that it exhibits further compartmentalization and acquires its protein content via two distinct mechanisms |
| platelet alpha granule lumen | The volume enclosed by the membrane of the platelet alpha granule. |
| Weibel-Palade body | A large, elongated, rod-shaped secretory granule characteristic of vascular endothelial cells that contain a number of structurally and functionally distinct proteins, of which the best characterized are von Willebrand factor (VWF) and P-selectin. Weibel-Palade bodies are formed from the trans-Golgi network in a process that depends on VWF, which is densely packed in a highly organized manner, and on coat proteins that remain associated with the granules. Upon cell stimulation, regulated exocytosis releases the contained proteins to the cell surface, where they act in the recruitment of platelets and leukocytes and in inflammatory and vasoactive responses. |
6 GO annotations of molecular function
| Name | Definition |
|---|---|
| collagen binding | Binding to collagen, a group of fibrous proteins of very high tensile strength that form the main component of connective tissue in animals. Collagen is highly enriched in glycine (some regions are 33% glycine) and proline, occurring predominantly as 3-hydroxyproline (about 20%). |
| identical protein binding | Binding to an identical protein or proteins. |
| immunoglobulin binding | Binding to an immunoglobulin. |
| integrin binding | Binding to an integrin. |
| protease binding | Binding to a protease or a peptidase. |
| protein-folding chaperone binding | Binding to a chaperone protein, a class of proteins that bind to nascent or unfolded polypeptides and ensure correct folding or transport. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| blood coagulation | The sequential process in which the multiple coagulation factors of the blood interact, ultimately resulting in the formation of an insoluble fibrin clot; it may be divided into three stages |
| cell adhesion | The attachment of a cell, either to another cell or to an underlying substrate such as the extracellular matrix, via cell adhesion molecules. |
| cell-substrate adhesion | The attachment of a cell to the underlying substrate via adhesion molecules. |
| hemostasis | The stopping of bleeding (loss of body fluid) or the arrest of the circulation to an organ or part. |
| platelet activation | A series of progressive, overlapping events triggered by exposure of the platelets to subendothelial tissue. These events include shape change, adhesiveness, aggregation, and release reactions. When carried through to completion, these events lead to the formation of a stable hemostatic plug. |
| positive regulation of intracellular signal transduction | Any process that activates or increases the frequency, rate or extent of intracellular signal transduction. |
| response to wounding | Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a stimulus indicating damage to the organism. |
6 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q28295 | VWF | von Willebrand factor | Canis lupus familiaris (Dog) (Canis familiaris) | SS |
| Q8CIZ8 | Vwf | von Willebrand factor | Mus musculus (Mouse) | SS |
| Q28833 | VWF | von Willebrand factor | Sus scrofa (Pig) | SS |
| Q62935 | Vwf | von Willebrand factor | Rattus norvegicus (Rat) | SS |
| Q69V36 | Os06g0194400 | B3 domain-containing protein Os06g0194400 | Oryza sativa subsp japonica (Rice) | PR |
| Q9FHB2 | At5g58280 | Putative B3 domain-containing protein At5g58280 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MIPARFAGVL | LALALILPGT | LCAEGTRGRS | STARCSLFGS | DFVNTFDGSM | YSFAGYCSYL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LAGGCQKRSF | SIIGDFQNGK | RVSLSVYLGE | FFDIHLFVNG | TVTQGDQRVS | MPYASKGLYL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| ETEAGYYKLS | GEAYGFVARI | DGSGNFQVLL | SDRYFNKTCG | LCGNFNIFAE | DDFMTQEGTL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| TSDPYDFANS | WALSSGEQWC | ERASPPSSSC | NISSGEMQKG | LWEQCQLLKS | TSVFARCHPL |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VDPEPFVALC | EKTLCECAGG | LECACPALLE | YARTCAQEGM | VLYGWTDHSA | CSPVCPAGME |
| 310 | 320 | 330 | 340 | 350 | 360 |
| YRQCVSPCAR | TCQSLHINEM | CQERCVDGCS | CPEGQLLDEG | LCVESTECPC | VHSGKRYPPG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| TSLSRDCNTC | ICRNSQWICS | NEECPGECLV | TGQSHFKSFD | NRYFTFSGIC | QYLLARDCQD |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HSFSIVIETV | QCADDRDAVC | TRSVTVRLPG | LHNSLVKLKH | GAGVAMDGQD | VQLPLLKGDL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RIQHTVTASV | RLSYGEDLQM | DWDGRGRLLV | KLSPVYAGKT | CGLCGNYNGN | QGDDFLTPSG |
| 550 | 560 | 570 | 580 | 590 | 600 |
| LAEPRVEDFG | NAWKLHGDCQ | DLQKQHSDPC | ALNPRMTRFS | EEACAVLTSP | TFEACHRAVS |
| 610 | 620 | 630 | 640 | 650 | 660 |
| PLPYLRNCRY | DVCSCSDGRE | CLCGALASYA | AACAGRGVRV | AWREPGRCEL | NCPKGQVYLQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| CGTPCNLTCR | SLSYPDEECN | EACLEGCFCP | PGLYMDERGD | CVPKAQCPCY | YDGEIFQPED |
| 730 | 740 | 750 | 760 | 770 | 780 |
| IFSDHHTMCY | CEDGFMHCTM | SGVPGSLLPD | AVLSSPLSHR | SKRSLSCRPP | MVKLVCPADN |
| 790 | 800 | 810 | 820 | 830 | 840 |
| LRAEGLECTK | TCQNYDLECM | SMGCVSGCLC | PPGMVRHENR | CVALERCPCF | HQGKEYAPGE |
| 850 | 860 | 870 | 880 | 890 | 900 |
| TVKIGCNTCV | CQDRKWNCTD | HVCDATCSTI | GMAHYLTFDG | LKYLFPGECQ | YVLVQDYCGS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| NPGTFRILVG | NKGCSHPSVK | CKKRVTILVE | GGEIELFDGE | VNVKRPMKDE | THFEVVESGR |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| YIILLLGKAL | SVVWDRHLSI | SVVLKQTYQE | KVCGLCGNFD | GIQNNDLTSS | NLQVEEDPVD |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| FGNSWKVSSQ | CADTRKVPLD | SSPATCHNNI | MKQTMVDSSC | RILTSDVFQD | CNKLVDPEPY |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| LDVCIYDTCS | CESIGDCACF | CDTIAAYAHV | CAQHGKVVTW | RTATLCPQSC | EERNLRENGY |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| ECEWRYNSCA | PACQVTCQHP | EPLACPVQCV | EGCHAHCPPG | KILDELLQTC | VDPEDCPVCE |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| VAGRRFASGK | KVTLNPSDPE | HCQICHCDVV | NLTCEACQEP | GGLVVPPTDA | PVSPTTLYVE |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| DISEPPLHDF | YCSRLLDLVF | LLDGSSRLSE | AEFEVLKAFV | VDMMERLRIS | QKWVRVAVVE |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| YHDGSHAYIG | LKDRKRPSEL | RRIASQVKYA | GSQVASTSEV | LKYTLFQIFS | KIDRPEASRI |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| TLLLMASQEP | QRMSRNFVRY | VQGLKKKKVI | VIPVGIGPHA | NLKQIRLIEK | QAPENKAFVL |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| SSVDELEQQR | DEIVSYLCDL | APEAPPPTLP | PDMAQVTVGP | GLLGVSTLGP | KRNSMVLDVA |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| FVLEGSDKIG | EADFNRSKEF | MEEVIQRMDV | GQDSIHVTVL | QYSYMVTVEY | PFSEAQSKGD |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| ILQRVREIRY | QGGNRTNTGL | ALRYLSDHSF | LVSQGDREQA | PNLVYMVTGN | PASDEIKRLP |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| GDIQVVPIGV | GPNANVQELE | RIGWPNAPIL | IQDFETLPRE | APDLVLQRCC | SGEGLQIPTL |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| SPAPDCSQPL | DVILLLDGSS | SFPASYFDEM | KSFAKAFISK | ANIGPRLTQV | SVLQYGSITT |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| IDVPWNVVPE | KAHLLSLVDV | MQREGGPSQI | GDALGFAVRY | LTSEMHGARP | GASKAVVILV |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| TDVSVDSVDA | AADAARSNRV | TVFPIGIGDR | YDAAQLRILA | GPAGDSNVVK | LQRIEDLPTM |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| VTLGNSFLHK | LCSGFVRICM | DEDGNEKRPG | DVWTLPDQCH | TVTCQPDGQT | LLKSHRVNCD |
| 1930 | 1940 | 1950 | 1960 | 1970 | 1980 |
| RGLRPSCPNS | QSPVKVEETC | GCRWTCPCVC | TGSSTRHIVT | FDGQNFKLTG | SCSYVLFQNK |
| 1990 | 2000 | 2010 | 2020 | 2030 | 2040 |
| EQDLEVILHN | GACSPGARQG | CMKSIEVKHS | ALSVELHSDM | EVTVNGRLVS | VPYVGGNMEV |
| 2050 | 2060 | 2070 | 2080 | 2090 | 2100 |
| NVYGAIMHEV | RFNHLGHIFT | FTPQNNEFQL | QLSPKTFASK | TYGLCGICDE | NGANDFMLRD |
| 2110 | 2120 | 2130 | 2140 | 2150 | 2160 |
| GTVTTDWKTL | VQEWTVQRPG | QTCQPILEEQ | CLVPDSSHCQ | VLLLPLFAEC | HKVLAPATFY |
| 2170 | 2180 | 2190 | 2200 | 2210 | 2220 |
| AICQQDSCHQ | EQVCEVIASY | AHLCRTNGVC | VDWRTPDFCA | MSCPPSLVYN | HCEHGCPRHC |
| 2230 | 2240 | 2250 | 2260 | 2270 | 2280 |
| DGNVSSCGDH | PSEGCFCPPD | KVMLEGSCVP | EEACTQCIGE | DGVQHQFLEA | WVPDHQPCQI |
| 2290 | 2300 | 2310 | 2320 | 2330 | 2340 |
| CTCLSGRKVN | CTTQPCPTAK | APTCGLCEVA | RLRQNADQCC | PEYECVCDPV | SCDLPPVPHC |
| 2350 | 2360 | 2370 | 2380 | 2390 | 2400 |
| ERGLQPTLTN | PGECRPNFTC | ACRKEECKRV | SPPSCPPHRL | PTLRKTQCCD | EYECACNCVN |
| 2410 | 2420 | 2430 | 2440 | 2450 | 2460 |
| STVSCPLGYL | ASTATNDCGC | TTTTCLPDKV | CVHRSTIYPV | GQFWEEGCDV | CTCTDMEDAV |
| 2470 | 2480 | 2490 | 2500 | 2510 | 2520 |
| MGLRVAQCSQ | KPCEDSCRSG | FTYVLHEGEC | CGRCLPSACE | VVTGSPRGDS | QSSWKSVGSQ |
| 2530 | 2540 | 2550 | 2560 | 2570 | 2580 |
| WASPENPCLI | NECVRVKEEV | FIQQRNVSCP | QLEVPVCPSG | FQLSCKTSAC | CPSCRCERME |
| 2590 | 2600 | 2610 | 2620 | 2630 | 2640 |
| ACMLNGTVIG | PGKTVMIDVC | TTCRCMVQVG | VISGFKLECR | KTTCNPCPLG | YKEENNTGEC |
| 2650 | 2660 | 2670 | 2680 | 2690 | 2700 |
| CGRCLPTACT | IQLRGGQIMT | LKRDETLQDG | CDTHFCKVNE | RGEYFWEKRV | TGCPPFDEHK |
| 2710 | 2720 | 2730 | 2740 | 2750 | 2760 |
| CLAEGGKIMK | IPGTCCDTCE | EPECNDITAR | LQYVKVGSCK | SEVEVDIHYC | QGKCASKAMY |
| 2770 | 2780 | 2790 | 2800 | 2810 | |
| SIDINDVQDQ | CSCCSPTRTE | PMQVALHCTN | GSVVYHEVLN | AMECKCSPRK | CSK |