Q13332
Gene name |
PTPRS |
Protein name |
Receptor-type tyrosine-protein phosphatase S |
Names |
R-PTP-S, Receptor-type tyrosine-protein phosphatase sigma, R-PTP-sigma |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:5802 |
EC number |
3.1.3.48: Phosphoric monoester hydrolases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
985 variants for Q13332
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA9109009 rs140472977 RCV000791306 |
1586 | V>M | Variant assessed as Somatic; 0.0 impact. NK-cell enteropathy [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
| TCGA novel | 4 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs200430287 | 24 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1427468626 | 40 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1064293 | 48 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs777078756 | 49 | V>C | Variant assessed as Somatic; 4.644e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 55 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 56 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs146675930 | 80 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1397380294 | 100 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 101 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs769916725 | 148 | R>Q | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs781304015 | 150 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs770043743 | 183 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs774744361 | 196 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1302269430 | 224 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 238 | R>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 238 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs990860881 | 239 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs781664688 | 243 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1207603443 | 246 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 260 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 276 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 282 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1423516878 | 295 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 307 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1218428122 | 334 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 353 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 359 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs377318412 | 364 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1383575470 | 366 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 392 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750721878 | 403 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 404 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1568465790 | 405 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390768500 TCGA novel |
414 | S>A | Variant assessed as Somatic; impact. Variant assessed as Somatic; 4.705e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 414 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 425 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs754224013 | 429 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs919253826 | 429 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 429 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760369713 | 431 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1237664443 | 431 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1405091584 | 435 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1205925337 | 445 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 446 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 454 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 462 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs73545312 | 462 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs747170106 | 472 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 498 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1488811231 | 503 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1260947679 | 508 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs724159895 | 511 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 523 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 526 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1196402998 | 529 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs368361739 | 542 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs750655279 | 549 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 568 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs374725933 | 580 | V>M | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs775100072 | 593 | R>C | Variant assessed as Somatic; 4.621e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 593 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs778054699 | 597 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs760549393 | 608 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1237159914 | 610 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1330682967 CA403517735 |
617 | K>R | No |
ClinGen TOPMed |
|
|
CA9110167 rs777396253 |
618 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs374621025 CA9110166 |
619 | S>* | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752226232 CA9110165 |
620 | A>D | No |
ClinGen ExAC gnomAD |
|
|
rs766486140 CA9110161 |
621 | P>H | No |
ClinGen ExAC gnomAD |
|
| rs755108907 | 622 | P>L | Variant assessed as Somatic; 6.512e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1488250331 CA403517691 |
622 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403517693 rs1488250331 |
622 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760830146 CA9110156 |
624 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs772048652 CA9110154 |
630 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772048652 CA304606168 |
630 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779378586 CA9110152 |
631 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779378586 CA403517609 |
631 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1216644787 CA403517582 |
633 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs771492236 CA9110151 |
635 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 636 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868011195 CA304606167 |
640 | R>C | No |
ClinGen gnomAD |
|
|
rs150939732 CA9110149 |
640 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed |
|
CA9110148 rs755739102 |
641 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA304606166 rs994725876 |
641 | P>S | No |
ClinGen TOPMed |
|
|
CA304606165 rs1033036953 |
643 | P>A | No |
ClinGen Ensembl |
|
|
CA9110145 rs754436545 |
643 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766391106 CA9110143 |
644 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9110142 rs758460182 |
644 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs766391106 CA304606164 |
644 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403517485 rs766391106 |
644 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9110138 rs760884281 |
646 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs767837276 CA9110137 CA9110136 |
649 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA9110135 rs759529027 |
650 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 650 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403517438 rs1220417036 |
652 | V>L | No |
ClinGen gnomAD |
|
|
rs771403922 CA9110133 |
655 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs200689431 CA9110132 |
657 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403517403 rs1386910242 |
657 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA304606163 rs889829498 |
659 | R>Q | No |
ClinGen Ensembl |
|
|
rs200771602 CA9110130 |
660 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs200771602 CA304606162 |
660 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9110126 rs147784971 |
663 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200172769 CA9110125 |
663 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147784971 CA9110127 |
663 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9110124 rs370707556 |
664 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403517370 rs1484148894 |
664 | E>Q | No |
ClinGen gnomAD |
|
|
rs1372364043 CA403517360 |
665 | D>G | No |
ClinGen TOPMed |
|
|
rs1308508280 CA403517362 |
665 | D>N | No |
ClinGen TOPMed |
|
|
CA403517347 rs1377623190 |
666 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403517326 rs1355617947 |
669 | K>E | No |
ClinGen TOPMed |
|
|
CA403517276 TCGA novel rs1599550265 |
673 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA Ensembl |
|
rs919758857 CA304606161 |
673 | G>S | No |
ClinGen TOPMed |
|
|
rs759801187 CA9110119 |
674 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1238574782 CA403517262 |
675 | P>S | No |
ClinGen gnomAD |
|
|
rs1238574782 CA403517265 |
675 | P>T | No |
ClinGen gnomAD |
|
|
rs376058028 CA9110117 |
676 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1313475733 CA403517220 |
680 | Q>E | No |
ClinGen gnomAD |
|
|
CA403517213 rs1306570922 |
680 | Q>H | No |
ClinGen gnomAD |
|
|
CA304606160 rs1036934835 |
684 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1036934835 CA403517185 |
684 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1333782961 CA403517164 |
685 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 686 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770401761 CA9110113 |
689 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs568688962 CA9110110 |
693 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9110108 rs370330291 |
695 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403517048 rs1240330020 |
696 | T>I | No |
ClinGen gnomAD |
|
|
rs778710485 CA9110105 |
698 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs981031714 CA304606159 |
699 | H>N | No |
ClinGen Ensembl |
|
|
CA9110103 rs753552451 |
701 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs757257991 CA9110104 |
701 | E>Q | No |
ClinGen ExAC |
|
|
rs147750933 CA9110102 |
703 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs945177819 CA403516984 |
704 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs945177819 CA304606158 |
704 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA403516976 rs1243032613 |
705 | G>V | No |
ClinGen gnomAD |
|
|
CA403516968 rs1340279963 |
706 | P>L | No |
ClinGen gnomAD |
|
|
CA304606157 rs1053912542 |
707 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs370338775 CA9110098 |
709 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1420442830 CA403516932 |
710 | P>S | No |
ClinGen gnomAD |
|
|
rs765642813 CA9110096 |
711 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403516908 rs1367694603 |
713 | V>I | No |
ClinGen gnomAD |
|
|
rs776822913 CA9110094 |
714 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403516897 rs769069932 |
714 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs769069932 CA9110093 |
714 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs775268583 CA9110091 |
716 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403516886 rs1488356054 |
716 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA403516876 rs1447785084 |
717 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA304606156 rs971664522 |
718 | D>G | No |
ClinGen TOPMed |
|
|
CA403516687 rs1374310303 |
722 | A>T | No |
ClinGen TOPMed |
|
|
rs1393421847 CA403516685 |
722 | A>V | No |
ClinGen TOPMed |
|
|
CA403516655 rs1360054733 |
727 | V>A | No |
ClinGen gnomAD |
|
|
rs960841066 CA304605909 |
727 | V>M | No |
ClinGen TOPMed |
|
| TCGA novel | 728 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1364091998 CA403516639 |
729 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1599535237 CA403516644 |
729 | A>T | No |
ClinGen Ensembl |
|
|
CA403516641 rs1364091998 |
729 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1599535159 CA403516634 |
730 | E>G | No |
ClinGen Ensembl |
|
|
rs1273151991 CA403516625 |
731 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1328222592 CA403516607 |
734 | A>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 735 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1035485750 CA304605908 |
736 | A>S | No |
ClinGen TOPMed |
|
|
rs1164098327 CA403516584 |
738 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1254439512 CA403516583 |
738 | R>H | No |
ClinGen TOPMed |
|
|
CA304605907 rs1004888859 |
745 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1064295 CA304605906 |
745 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 746 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1195141314 CA403516529 |
747 | G>D | No |
ClinGen gnomAD |
|
|
rs1246891588 CA403516531 |
747 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1237963337 CA403516524 |
748 | R>L | No |
ClinGen gnomAD |
|
|
rs1399739848 CA403516525 |
748 | R>W | No |
ClinGen TOPMed |
|
|
CA403516507 rs1309771135 |
750 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs769766853 CA9110063 |
752 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1384894908 CA403516493 |
752 | Q>H | No |
ClinGen TOPMed |
|
|
rs1477293906 CA403516495 |
752 | Q>L | No |
ClinGen gnomAD |
|
|
CA403516488 rs1384706276 |
753 | I>T | No |
ClinGen Ensembl |
|
|
rs1307585641 CA403516461 |
757 | Q>R | No |
ClinGen TOPMed |
|
|
rs1305842029 CA403516449 |
759 | H>Y | No |
ClinGen gnomAD |
|
|
rs1027605608 CA304605904 |
760 | Y>F | No |
ClinGen TOPMed |
|
|
rs1038862962 CA304605901 |
762 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1374294763 CA403516429 |
762 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 762 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA304605902 rs1038862962 |
762 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1442731364 CA403516424 |
763 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1442731364 CA403516425 |
763 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403516405 rs1356179565 |
765 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs780989941 CA9110061 |
766 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1174099281 CA403516386 |
768 | A>G | No |
ClinGen TOPMed |
|
|
rs1175059175 CA403516389 |
768 | A>P | No |
ClinGen gnomAD |
|
|
rs1437431875 CA403516382 |
769 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA9110060 rs542345642 |
771 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1053239616 CA304605898 |
771 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1481847293 CA403516363 |
772 | P>L | No |
ClinGen gnomAD |
|
|
CA403516364 rs1481847293 |
772 | P>Q | No |
ClinGen gnomAD |
|
|
rs1259120475 CA403516359 |
773 | R>H | No |
ClinGen gnomAD |
|
|
rs746107616 CA9110059 |
777 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1298629875 CA403516321 |
778 | M>I | No |
ClinGen TOPMed |
|
|
rs1599533520 CA403516309 |
780 | A>V | No |
ClinGen Ensembl |
|
|
rs1303613614 CA403516308 |
781 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs898869635 CA304605873 |
784 | W>R | No |
ClinGen Ensembl |
|
|
CA9110023 rs761681941 |
786 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403516254 rs761681941 |
786 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403516244 rs1390648362 |
788 | D>H | No |
ClinGen gnomAD |
|
|
CA304605872 rs1015963134 |
789 | T>M | No |
ClinGen Ensembl |
|
|
CA403516225 rs1417612381 |
791 | E>K | No |
ClinGen Ensembl |
|
|
rs181439211 CA9110015 |
792 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765509959 CA9109972 |
793 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403515889 rs1302269744 |
795 | V>A | No |
ClinGen TOPMed |
|
|
rs1231581355 CA403515893 |
795 | V>I | No |
ClinGen TOPMed |
|
|
CA403515876 rs1313547507 |
797 | T>R | No |
ClinGen gnomAD |
|
|
CA9109971 rs369508635 |
798 | N>D | No |
ClinGen ESP ExAC gnomAD |
|
|
CA403515851 rs1469389508 |
801 | P>A | No |
ClinGen gnomAD |
|
|
CA9109968 rs747172851 |
802 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202087387 CA403515833 |
804 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9109967 rs202087387 |
804 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9109966 rs772609224 |
804 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA403515826 rs1599496062 |
805 | Y>S | No |
ClinGen Ensembl |
|
|
CA9109963 rs756860719 |
807 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs756860719 CA9109964 |
807 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA9109962 rs748896771 |
808 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748896771 CA304605334 |
808 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109960 rs755562182 |
810 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403515795 rs1340374850 |
811 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1338543715 CA403515771 |
814 | M>T | No |
ClinGen gnomAD |
|
|
rs755012048 CA9109957 |
815 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1159864455 CA403515662 |
817 | D>N | No |
ClinGen TOPMed |
|
|
CA9109955 rs751437578 |
819 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304605333 rs1023625190 |
820 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA403515642 rs1023625190 |
820 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1012604149 CA304605332 |
820 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA403515627 rs1475868980 |
822 | K>R | No |
ClinGen gnomAD |
|
|
rs776708266 CA9109953 |
826 | V>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 830 | G>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9109952 rs764444823 |
830 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA9109951 rs538765384 |
831 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1015526594 CA304605330 |
831 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1205852773 CA403515290 |
834 | G>S | No |
ClinGen gnomAD |
|
|
rs141070507 CA9109923 |
835 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9109922 rs746587534 |
835 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1169291996 CA403515265 |
837 | T>I | No |
ClinGen TOPMed |
|
|
rs201908599 CA9109921 |
838 | L>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403515247 rs758410040 |
839 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758410040 CA9109920 |
839 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403515228 rs1449294721 |
841 | Q>* | No |
ClinGen TOPMed |
|
|
rs1305092282 CA403515197 |
843 | T>N | No |
ClinGen TOPMed |
|
|
rs752927950 CA9109916 |
844 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1433614221 CA403515179 |
845 | E>A | No |
ClinGen gnomAD |
|
|
rs759604875 CA403515183 |
845 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759604875 CA9109914 |
845 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403515165 rs1375643869 |
846 | G>D | No |
ClinGen gnomAD |
|
|
rs766771400 CA9109912 |
849 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403515118 rs1407721470 |
850 | A>V | No |
ClinGen gnomAD |
|
|
rs763535247 CA9109911 |
851 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs199604489 CA9109910 |
851 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9109909 RCV000754561 RCV002263956 rs199604489 |
851 | R>L | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs115276698 CA304604938 |
853 | E>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA304604937 rs961564035 |
853 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
CA403515089 rs1239019907 |
853 | E>K | No |
ClinGen TOPMed |
|
|
CA403515071 rs1263196047 |
854 | P>L | No |
ClinGen TOPMed |
|
|
CA403515076 rs776422958 |
854 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9109907 rs776422958 |
854 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA403515058 rs1214736605 |
855 | P>L | No |
ClinGen gnomAD |
|
|
CA403515060 rs1214736605 |
855 | P>R | No |
ClinGen gnomAD |
|
|
rs1173800965 CA403515035 |
858 | T>A | No |
ClinGen TOPMed |
|
|
rs1173800965 CA403515037 |
858 | T>P | No |
ClinGen TOPMed |
|
|
CA403515025 rs1224185745 |
859 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9109904 rs200677865 |
859 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1167581020 CA403514994 |
861 | D>A | No |
ClinGen Ensembl |
|
|
CA403515001 rs1413585604 |
861 | D>N | No |
ClinGen gnomAD |
|
|
rs1314259486 CA403514984 |
862 | Q>E | No |
ClinGen gnomAD |
|
|
rs1451171996 CA403514968 |
863 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 865 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403514961 rs1160265804 |
865 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9109900 rs371360214 |
867 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403514945 rs1416280955 |
867 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA9109898 rs781357409 |
869 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA304604932 rs1028115213 |
869 | Q>P | No |
ClinGen TOPMed |
|
|
CA9109897 rs151114416 |
872 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9109895 rs374591804 |
872 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374591804 CA9109896 |
872 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403514895 rs1488973838 |
873 | E>A | No |
ClinGen TOPMed |
|
|
CA9109893 rs750931777 |
874 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1478125902 CA403514869 |
875 | S>W | No |
ClinGen TOPMed |
|
|
CA9109891 rs372181642 |
876 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403514849 rs1294580214 |
877 | P>L | No |
ClinGen gnomAD |
|
|
CA9109889 rs763791689 |
877 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA403514853 rs763791689 |
877 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1428091133 CA403514840 |
878 | L>P | No |
ClinGen gnomAD |
|
|
rs760436118 CA9109888 |
878 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1332317323 CA403514820 |
880 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
rs771623625 CA9109886 |
881 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA403514804 rs1568407818 |
882 | E>* | No |
ClinGen Ensembl |
|
|
rs1322918895 CA403514792 |
883 | F>L | No |
ClinGen TOPMed |
|
|
CA9109885 rs745426688 |
884 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403514775 rs1164749059 |
884 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9109884 rs774339890 |
885 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168390637 CA403514769 |
885 | P>T | No |
ClinGen gnomAD |
|
|
CA304604928 rs1007529586 |
887 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9109881 rs148744813 |
889 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9109880 rs148744813 |
889 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs747248153 CA9109879 |
889 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs780201997 CA9109878 |
890 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA9109877 rs375155482 |
891 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs765752538 CA9109875 |
892 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9109874 rs757862631 |
892 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA304604926 rs748343733 |
893 | S>L | No |
ClinGen gnomAD |
|
| TCGA novel | 894 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754216245 CA9109873 |
894 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA9109872 rs764560600 |
895 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs539486011 CA403514642 |
896 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9109871 rs550128751 |
896 | H>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403514631 rs1296988917 |
897 | K>R | No |
ClinGen gnomAD |
|
|
rs1568407380 CA403514623 |
898 | G>R | No |
ClinGen Ensembl |
|
|
rs370681168 CA9109868 |
899 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs909751365 CA304604925 |
899 | A>V | No |
ClinGen TOPMed |
|
|
CA9109867 rs773778652 |
900 | T>M | No |
ClinGen ExAC gnomAD |
|
|
rs1192744560 CA403514573 |
902 | V>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9109865 rs377203716 |
904 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1269321557 CA403514555 |
904 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA403514547 rs1479985617 |
905 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA403514532 rs1251374260 |
906 | A>V | No |
ClinGen gnomAD |
|
|
CA403514521 rs200860780 |
907 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200860780 CA9109863 |
907 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1020631416 CA304604923 |
908 | R>Q | No |
ClinGen TOPMed |
|
|
rs370397015 CA9109862 |
908 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403514493 rs1369452734 |
910 | R>C | No |
ClinGen gnomAD |
|
|
CA403514491 rs1305417503 |
910 | R>H | Variant assessed as Somatic; 7.506e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9109858 rs374643204 |
911 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs906063149 CA304604921 |
912 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA304604920 rs1014303618 |
913 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA304604919 rs1014303618 |
913 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA403514466 rs1354306749 |
913 | L>V | No |
ClinGen gnomAD |
|
|
rs1379163672 CA403514451 |
915 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs527272427 CA304604918 |
916 | E>A | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1394120193 CA403514431 |
916 | E>K | No |
ClinGen TOPMed |
|
|
CA403514426 rs527272427 |
916 | E>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs1037036904 CA304604917 |
917 | A>V | No |
ClinGen TOPMed |
|
|
CA403514407 rs1316753061 |
918 | A>D | No |
ClinGen TOPMed |
|
|
rs1251215196 CA403514398 |
919 | E>A | No |
ClinGen gnomAD |
|
| TCGA novel | 919 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs909875098 CA304604916 |
922 | S>G | No |
ClinGen TOPMed |
|
|
CA403514353 rs1211174007 |
924 | P>A | No |
ClinGen gnomAD |
|
|
rs370088739 CA9109854 |
924 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs956514858 CA403514323 |
926 | D>E | No |
ClinGen TOPMed |
|
|
CA9109852 rs767176479 |
926 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA304604912 rs759129843 |
927 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109851 rs759129843 |
927 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304604913 rs1030703866 |
927 | T>S | No |
ClinGen Ensembl |
|
|
CA403514304 rs1478220397 |
928 | P>L | No |
ClinGen TOPMed |
|
|
CA9109850 rs61729778 |
929 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403514297 rs1313647555 |
929 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA403514296 rs1313647555 |
929 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1416848107 CA403514294 |
930 | G>S | No |
ClinGen gnomAD |
|
|
rs1402658601 CA403514279 |
931 | H>P | No |
ClinGen TOPMed |
|
|
CA403514277 rs1202103155 |
931 | H>Q | No |
ClinGen gnomAD |
|
|
rs1599468025 CA403514281 |
931 | H>Y | No |
ClinGen Ensembl |
|
|
rs1156567371 CA403514270 |
932 | P>L | No |
ClinGen gnomAD |
|
|
rs1156567371 CA403514266 |
932 | P>R | No |
ClinGen gnomAD |
|
|
rs1364268470 CA403514256 |
933 | Q>H | No |
ClinGen gnomAD |
|
|
rs1161310685 CA403514244 |
934 | I>S | No |
ClinGen gnomAD |
|
|
CA304604909 rs1064296 |
935 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA9109848 rs762510209 |
937 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403514215 rs1443767326 |
938 | A>T | No |
ClinGen gnomAD |
|
|
CA304604906 rs182769562 |
940 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201435229 CA9109844 |
941 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772298342 CA9109843 |
941 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403514190 rs1293966082 |
942 | S>L | No |
ClinGen gnomAD |
|
|
CA403514192 rs1285984808 |
942 | S>P | No |
ClinGen TOPMed |
|
|
rs1014796224 CA304604905 |
944 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs895982467 CA304604904 |
945 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1385418553 CA403514173 |
945 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA403514175 rs895982467 |
945 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1385418553 CA403514174 |
945 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9109838 rs778392508 |
946 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109835 rs781437725 |
949 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403514151 rs1370939047 |
949 | R>H | No |
ClinGen gnomAD |
|
|
CA403514131 rs1420265669 |
952 | P>R | No |
ClinGen TOPMed |
|
|
rs749987801 CA9109830 |
954 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs749987801 CA9109831 |
954 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1048404327 CA304604902 |
955 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1385812531 CA403514117 |
955 | P>S | No |
ClinGen TOPMed |
|
|
CA403514111 rs1337555183 |
956 | A>G | No |
ClinGen gnomAD |
|
|
rs564427160 CA9109828 |
956 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs768350891 CA403514109 |
957 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768350891 CA9109826 |
957 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109825 rs760578565 |
958 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374990235 CA9109824 |
958 | R>H | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9109822 rs749356058 |
960 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109820 rs770291253 |
962 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109819 rs62113240 |
963 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA403514067 rs1379482387 |
964 | K>E | No |
ClinGen TOPMed |
|
|
CA403514062 rs1440176761 |
964 | K>N | No |
ClinGen TOPMed |
|
|
CA304604899 rs915133073 |
966 | T>M | No |
ClinGen TOPMed |
|
|
rs747443047 CA9109816 |
968 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs758072738 CA9109814 |
969 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs764731638 CA9109812 |
970 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109813 rs369041852 |
970 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403514015 rs1272370030 |
972 | A>V | No |
ClinGen gnomAD |
|
|
rs372440262 CA9109810 |
973 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403514009 rs912026736 |
974 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs912026736 CA304604896 |
974 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1369997087 CA403514005 |
974 | A>V | No |
ClinGen gnomAD |
|
|
CA304604895 rs986697718 |
976 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403513994 rs1410080119 |
977 | P>T | No |
ClinGen gnomAD |
|
|
rs1171385518 CA403513983 |
978 | A>V | No |
ClinGen gnomAD |
|
|
CA403513982 rs1028304582 |
979 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
CA304604894 rs1028304582 |
979 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA403513981 rs1193352037 |
979 | R>Q | No |
ClinGen gnomAD |
|
|
CA403513966 rs1484090676 |
981 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs773355226 CA9109804 |
981 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA403513967 rs1484090676 |
981 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs776974729 CA9109801 |
984 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348958046 CA403513952 |
984 | P>T | No |
ClinGen gnomAD |
|
|
rs747329678 CA9109799 |
985 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs747329678 CA403513943 |
985 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs368886554 CA9109797 |
986 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA304604893 rs868294368 |
987 | A>S | No |
ClinGen gnomAD |
|
|
rs756719219 CA9109794 |
989 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1359440247 CA403513922 |
989 | P>S | No |
ClinGen gnomAD |
|
|
rs201357930 CA9109791 |
991 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9109790 rs2230610 |
991 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs368236845 CA9109787 |
992 | E>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368236845 CA304604892 |
992 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9109784 rs201423065 |
994 | A>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9109783 rs370623380 |
994 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA403513889 rs1228933665 |
995 | L>F | No |
ClinGen gnomAD |
|
|
VAR_035649 rs775778266 CA9109781 |
996 | T>M | a colorectal cancer sample; somatic mutation [UniProt] | No |
ClinGen UniProt ExAC TOPMed dbSNP gnomAD |
|
CA403513873 rs1379393228 |
998 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs746300376 CA9109779 |
998 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304604890 rs936424649 |
999 | G>S | No |
ClinGen TOPMed |
|
|
CA403513852 rs1416406546 |
1001 | K>N | No |
ClinGen gnomAD |
|
|
rs770663085 CA9109777 |
1002 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403513840 rs752695186 |
1003 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109774 rs756049037 |
1003 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781335825 CA9109772 |
1004 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs754813198 CA9109771 |
1004 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762127352 CA9109768 |
1005 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA9109767 rs753793633 |
1005 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1174340046 CA403513828 |
1006 | Y>H | No |
ClinGen TOPMed |
|
| TCGA novel | 1007 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9109763 rs772609297 |
1007 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs943824465 CA304604888 |
1009 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs943824465 CA304604889 |
1009 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1360908131 CA403513801 |
1010 | V>L | No |
ClinGen gnomAD |
|
|
CA9109760 rs770446171 |
1011 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs1392874652 CA403513796 |
1011 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs777089062 CA9109758 |
1012 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1428131078 CA403513779 |
1014 | T>A | No |
ClinGen gnomAD |
|
|
CA403513775 rs1391073074 |
1014 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9109754 rs199829286 |
1015 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9109753 rs751272492 |
1015 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304604886 rs751272492 |
1015 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403513770 rs374799314 |
1016 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109751 rs374799314 |
1016 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109752 rs779903263 |
1016 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403513750 rs1306524101 |
1020 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1231013843 CA403513735 |
1022 | S>G | No |
ClinGen gnomAD |
|
|
rs752821383 CA9109747 |
1023 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403513726 rs1303233646 |
1023 | P>L | No |
ClinGen gnomAD |
|
|
CA403513727 rs1303233646 |
1023 | P>R | No |
ClinGen gnomAD |
|
|
rs752821383 CA9109748 |
1023 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752821383 CA9109749 |
1023 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs202163446 CA9109745 |
1024 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs772912033 CA9109742 |
1024 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772912033 CA9109743 |
1024 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772912033 CA9109741 |
1024 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109744 rs202163446 |
1024 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs202163446 CA9109746 |
1024 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs374875451 CA9109737 |
1025 | V>F | No |
ClinGen ESP ExAC TOPMed |
|
|
rs374875451 CA9109736 |
1025 | V>I | No |
ClinGen ESP ExAC TOPMed |
|
| rs756013055 | 1025 | V>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs756013055 | 1025 | V>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746980740 CA9109733 |
1026 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9109732 rs779918003 |
1026 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109730 rs745694014 |
1027 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109728 rs769764410 |
1028 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109727 rs752731468 |
1028 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769764410 CA9109729 |
1028 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109726 rs767586201 |
1029 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403513688 rs1206861930 |
1031 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA304604883 rs766862256 |
1032 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000912129 rs370399999 CA9109722 |
1032 | R>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA9109723 rs766862256 |
1032 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403513678 rs1351187602 |
1033 | D>E | No |
ClinGen gnomAD |
|
|
rs773496700 CA9109721 |
1033 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs372067337 CA9109678 |
1036 | S>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1270501015 CA403513642 |
1037 | P>R | No |
ClinGen Ensembl |
|
|
CA9109676 rs759102109 |
1039 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA403513611 rs1174993660 |
1041 | K>M | No |
ClinGen gnomAD |
|
|
CA9109675 rs774267588 |
1042 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1211765615 CA403513602 |
1043 | K>E | No |
ClinGen gnomAD |
|
|
rs1454313241 CA403513589 |
1044 | M>I | No |
ClinGen gnomAD |
|
|
CA403513591 rs1329534234 |
1044 | M>T | No |
ClinGen TOPMed |
|
|
rs1337663643 CA403513585 |
1045 | I>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs770895185 CA9109674 |
1049 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403513544 rs146080105 |
1051 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403513516 rs1219786363 |
1055 | E>K | No |
ClinGen Ensembl |
|
|
CA9109672 rs772903486 |
1056 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs768857484 CA9109671 |
1057 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs747212154 CA403513490 |
1058 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599455730 CA403513497 |
1058 | D>N | No |
ClinGen Ensembl |
|
|
CA9109669 rs780382156 |
1059 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1393807141 CA403513479 |
1060 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1195525448 CA403513450 |
1064 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA304604789 rs966517708 |
1064 | T>P | No |
ClinGen gnomAD |
|
|
CA9109666 rs141765312 |
1065 | P>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9109665 rs779544389 |
1065 | P>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1067 | K>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9109631 rs757962488 |
1069 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA403513405 rs1475035175 |
1069 | Q>R | No |
ClinGen TOPMed |
|
|
CA9109629 rs138649939 |
1073 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs776516569 CA9109627 |
1075 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1212037871 CA403513352 |
1077 | V>A | No |
ClinGen gnomAD |
|
|
rs767809989 CA9109626 |
1079 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109624 rs774511967 |
1080 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771119355 CA9109623 |
1080 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771119355 CA403513334 |
1080 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1316669370 CA403513328 |
1081 | T>I | No |
ClinGen TOPMed |
|
|
CA304604683 rs959828503 |
1082 | T>I | No |
ClinGen TOPMed |
|
|
CA403513317 rs1300507338 |
1083 | K>M | No |
ClinGen TOPMed |
|
|
CA403513306 rs1379503828 |
1085 | L>F | No |
ClinGen gnomAD |
|
|
CA9109620 rs200191658 |
1087 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403513230 rs1203670272 |
1096 | N>D | No |
ClinGen TOPMed |
|
|
CA9109617 rs202061843 |
1096 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs3202678 CA304604679 |
1097 | F>L | No |
ClinGen Ensembl |
|
|
CA403513200 rs1164236147 |
1101 | N>D | No |
ClinGen gnomAD |
|
|
rs377654164 CA9109615 |
1101 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9109614 rs575201235 |
1102 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765040102 CA9109612 |
1103 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1209147609 CA403513171 |
1105 | S>N | No |
ClinGen TOPMed |
|
|
CA403513169 rs1249771341 |
1105 | S>R | No |
ClinGen TOPMed |
|
|
CA304604677 rs544466481 |
1108 | G>S | No |
ClinGen gnomAD |
|
|
CA9109608 rs201447856 |
1112 | T>M | Variant assessed as Somatic; 0.0003238 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs769925793 CA9109605 RCV000754560 |
1115 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA403513094 rs1458048934 |
1117 | T>S | No |
ClinGen TOPMed |
|
|
CA403513082 rs1341900869 |
1119 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs372506721 CA403513074 |
1120 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372506721 CA9109603 |
1120 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs372506721 CA403513075 |
1120 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748360435 CA304604676 |
1121 | L>V | No |
ClinGen ExAC TOPMed |
|
|
CA9109600 rs769004088 |
1123 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304604675 rs868694931 |
1124 | G>D | No |
ClinGen Ensembl |
|
|
rs779660659 CA9109598 |
1124 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1127 | S>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371881792 CA9109595 |
1128 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371881792 CA9109594 |
1128 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs199805837 CA9109592 |
1129 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403513017 rs1209240784 |
1130 | P>S | No |
ClinGen TOPMed |
|
|
CA403512980 rs752585208 |
1135 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755938901 CA9109591 |
1135 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs755938901 CA403512984 |
1135 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA304604674 rs924348462 |
1136 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA9109589 rs140049694 |
1136 | G>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA304604672 rs914037320 |
1139 | M>T | No |
ClinGen TOPMed |
|
|
rs1231130806 CA403512958 |
1139 | M>V | No |
ClinGen gnomAD |
|
|
rs866466115 CA304604671 |
1145 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs765371680 CA9109587 |
1145 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765371680 CA9109586 |
1145 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1306330316 CA403512913 |
1146 | Q>E | No |
ClinGen gnomAD |
|
|
rs1461372872 CA403512908 |
1146 | Q>H | No |
ClinGen TOPMed |
|
| TCGA novel | 1147 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9109585 rs761866681 |
1148 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109582 rs760980604 |
1149 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9109583 rs147801733 |
1149 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1152 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772064790 CA304604670 |
1152 | Q>R | No |
ClinGen gnomAD |
|
|
CA9109549 rs781048317 |
1156 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286194006 CA403512814 |
1158 | M>I | No |
ClinGen TOPMed |
|
|
rs754772522 CA9109548 |
1162 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746829913 CA403512791 |
1162 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs746829913 CA9109547 |
1162 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA304604581 rs910146505 |
1164 | S>P | No |
ClinGen TOPMed |
|
|
rs1034131598 CA403512773 |
1165 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1034131598 CA304604580 |
1165 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA403512771 rs1326503987 |
1166 | G>R | No |
ClinGen gnomAD |
|
|
CA403512760 rs1465789831 |
1167 | G>D | No |
ClinGen gnomAD |
|
|
rs1263912912 CA403512755 |
1168 | Q>R | No |
ClinGen gnomAD |
|
|
CA9109546 rs779149362 CA403512745 |
1169 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109543 rs764176169 |
1172 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1174 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403512723 rs753240051 |
1174 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753240051 CA9109541 |
1174 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403512690 rs1384602128 |
1178 | D>E | No |
ClinGen gnomAD |
|
|
rs774597513 CA9109538 |
1178 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1461228258 CA403512683 |
1179 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1389490950 CA403512689 |
1179 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403512685 rs1163896977 |
1179 | M>T | No |
ClinGen TOPMed |
|
|
rs1389490950 CA403512688 |
1179 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403512672 rs762696876 |
1181 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403512670 rs1388692315 |
1181 | L>P | No |
ClinGen gnomAD |
|
|
CA9109536 rs762696876 |
1181 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1168400719 CA403512659 |
1183 | E>Q | No |
ClinGen gnomAD |
|
|
CA9109508 rs760546803 |
1185 | I>L | No |
ClinGen ExAC |
|
|
rs1342415870 CA403512616 |
1187 | D>G | No |
ClinGen TOPMed |
|
|
CA304604575 rs771853690 |
1190 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771853690 CA9109506 |
1190 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1599436263 CA403512598 |
1190 | R>W | No |
ClinGen Ensembl |
|
|
rs376266471 CA9109504 |
1192 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403512575 rs1269111261 |
1194 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9109503 rs115469963 |
1194 | R>H | Variant assessed as Somatic; 0.0006238 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1471312670 CA403512557 |
1197 | R>Q | No |
ClinGen gnomAD |
|
|
CA9109501 rs781134304 |
1197 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109500 rs755452432 |
1199 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403512540 rs1390942862 |
1200 | R>C | No |
ClinGen TOPMed |
|
|
rs781371580 CA9109497 |
1200 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA403512535 rs1204949982 |
1201 | Q>* | No |
ClinGen gnomAD |
|
|
rs1440713936 CA403512531 |
1201 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA304604573 rs957224661 |
1203 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA403512513 rs1377303300 |
1204 | V>G | No |
ClinGen TOPMed |
|
|
CA9109496 rs750841016 |
1204 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs142918634 CA403512504 |
1206 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403512505 rs142918634 |
1206 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9109494 rs142918634 |
1206 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs764944959 CA9109495 |
1206 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760302776 CA9109491 |
1209 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs542361035 CA9109489 |
1212 | R>C | Variant assessed as Somatic; 9.258e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9109488 rs375875548 |
1212 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs542361035 CA304604571 |
1212 | R>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769934024 CA9109486 |
1215 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA9109487 rs774159488 |
1215 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304604569 rs918842746 |
1217 | P>L | No |
ClinGen Ensembl |
|
|
rs1265450607 CA403512429 |
1219 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs114904537 CA304604568 |
1221 | H>N | No |
ClinGen 1000Genomes |
|
|
CA9109484 rs372619078 |
1222 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9109483 rs768612717 |
1222 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9109480 rs145842090 |
1224 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs779435853 CA403512389 |
1225 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746169857 CA9109479 |
1225 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1226 | K>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757700265 CA403512376 |
1227 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757700265 CA9109477 |
1227 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403512372 rs1176871419 |
1228 | Y>N | No |
ClinGen TOPMed |
|
|
rs1433499108 CA403512356 |
1230 | G>D | No |
ClinGen gnomAD |
|
|
CA9109475 rs202004674 |
1230 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403512345 rs752222706 |
1232 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109473 rs752222706 |
1232 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767400237 CA403512329 |
1234 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109472 rs767400237 |
1234 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304604567 rs866165812 |
1234 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9109471 rs759472181 |
1235 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759472181 CA403512323 |
1235 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1236 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9109470 rs200307602 |
1237 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9109468 rs369971329 |
1239 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201990407 CA9109466 |
1241 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs202091186 CA9109465 |
1241 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1220355220 CA403512217 |
1247 | L>F | No |
ClinGen gnomAD |
|
|
rs116545788 CA9109461 |
1249 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757534258 CA304604565 |
1251 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757534258 CA9109460 |
1251 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296936066 CA403512162 |
1252 | K>E | No |
ClinGen gnomAD |
|
|
CA9109459 rs749715659 |
1253 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs777238128 CA9109458 |
1253 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs61743105 CA9109457 |
1253 | S>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1405757941 CA403512135 |
1254 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9109454 rs139608745 |
1255 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs139608745 CA9109455 |
1255 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403510979 rs1599430116 |
1256 | T>P | No |
ClinGen Ensembl |
|
|
CA403510911 rs1156383212 |
1259 | A>V | No |
ClinGen gnomAD |
|
|
CA403510903 rs1452566818 |
1260 | S>N | No |
ClinGen gnomAD |
|
|
rs763526954 CA9109423 |
1261 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA403510886 rs1161671874 |
1261 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1239728663 CA403510840 |
1264 | D>E | No |
ClinGen TOPMed |
|
|
CA304604505 rs867337946 |
1265 | P>L | No |
ClinGen Ensembl |
|
|
rs1422453480 CA403510808 |
1267 | Q>* | No |
ClinGen gnomAD |
|
|
rs748550727 CA9109420 |
1269 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1221129890 CA403510774 |
1269 | D>G | No |
ClinGen TOPMed |
|
|
rs761904835 CA304604502 |
1269 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109421 rs761904835 |
1269 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403510732 rs1351608223 |
1271 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1204660130 CA403510739 |
1271 | P>S | No |
ClinGen gnomAD |
|
|
CA304604500 rs776652526 |
1274 | Q>H | No |
ClinGen Ensembl |
|
|
CA403510659 rs768318893 |
1276 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs146012732 CA9109417 |
1277 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146012732 CA9109416 |
1277 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750373156 CA9109414 |
1280 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs757905971 CA9109415 |
1280 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1035903725 CA304604498 |
1282 | G>E | No |
ClinGen Ensembl |
|
|
rs1385155560 CA403510489 |
1288 | G>R | No |
ClinGen gnomAD |
|
|
rs1003437214 CA304604496 |
1291 | L>V | No |
ClinGen gnomAD |
|
|
CA9109406 rs763007823 |
1293 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773740248 CA9109405 |
1295 | F>C | No |
ClinGen ExAC |
|
|
rs1446928503 CA403510384 |
1296 | I>V | No |
ClinGen gnomAD |
|
|
rs762117575 CA9109403 |
1298 | C>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762117575 CA403510354 |
1298 | C>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304604494 rs1011549015 |
1299 | I>L | No |
ClinGen Ensembl |
|
|
rs1330761136 CA403510338 |
1299 | I>T | No |
ClinGen TOPMed |
|
|
rs376345440 CA304604492 |
1301 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1312373726 CA403510292 |
1302 | A>T | No |
ClinGen gnomAD |
|
|
rs149250405 CA9109402 |
1303 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403510248 rs1246481445 |
1305 | L>F | No |
ClinGen gnomAD |
|
|
rs773998457 CA9109373 |
1310 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA403510029 rs370343222 |
1311 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370343222 CA9109370 |
1311 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403510027 rs370343222 |
1311 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9109368 rs747944058 |
1312 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs780275846 CA9109367 |
1312 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA9109340 rs374745287 |
1314 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767763908 CA9109339 |
1314 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760047878 CA9109338 |
1315 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9109336 rs766184946 |
1318 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs751229657 CA9109337 |
1318 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs762505033 CA9109335 |
1319 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs762505033 CA403509879 |
1319 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1052009018 CA304604412 |
1319 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA9109334 rs772880114 |
1320 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA304604411 rs936142250 |
1320 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs145751069 CA9109333 |
1323 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403509852 rs1239121684 |
1324 | L>V | No |
ClinGen TOPMed |
|
|
CA403509846 rs1310899689 |
1325 | L>V | No |
ClinGen TOPMed |
|
|
rs370332631 CA9109331 |
1329 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9109329 rs779055431 |
1331 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs1361339357 CA403509807 |
1331 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9109328 rs779055431 |
1331 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA304604410 rs367722276 |
1333 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
CA9109327 rs771170964 |
1334 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749295712 CA9109326 |
1335 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1423783416 CA403509756 |
1339 | V>M | No |
ClinGen gnomAD |
|
|
CA403509747 rs1366044529 |
1340 | E>A | No |
ClinGen gnomAD |
|
|
rs1568388126 CA403509744 |
1340 | E>D | No |
ClinGen Ensembl |
|
|
rs777724238 CA9109325 |
1341 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs374679831 CA9109324 |
1342 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9109323 rs753143589 |
1343 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs753143589 CA403509727 |
1343 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109321 rs201934952 |
1343 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs201934952 CA9109322 |
1343 | R>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403509724 rs1476169496 |
1344 | I>V | No |
ClinGen gnomAD |
|
|
rs1266362648 CA403509710 |
1346 | F>L | No |
ClinGen gnomAD |
|
|
CA304604182 rs908259585 |
1351 | S>A | No |
ClinGen Ensembl |
|
|
rs1403235094 CA403508976 |
1352 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA403508952 rs1440592448 |
1354 | R>G | No |
ClinGen TOPMed |
|
|
rs764987592 CA9109295 |
1355 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764987592 CA304604181 |
1355 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1469959251 CA403508916 |
1357 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 1357 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs865957699 CA304604180 |
1358 | R>G | No |
ClinGen Ensembl |
|
|
CA9109293 rs753417682 |
1360 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA304604179 rs753417682 |
1360 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403508847 rs866147610 |
1361 | G>E | No |
ClinGen gnomAD |
|
|
CA304604177 rs866147610 |
1361 | G>V | No |
ClinGen gnomAD |
|
|
rs1460411052 CA403508831 |
1362 | F>L | No |
ClinGen gnomAD |
|
|
CA403508790 rs1162516954 |
1364 | F>L | No |
ClinGen TOPMed |
|
|
rs199585880 CA9109291 |
1364 | F>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9109290 rs775461256 |
1365 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs955550206 CA304604176 |
1365 | E>D | No |
ClinGen TOPMed |
|
|
rs1265626893 CA403508451 |
1367 | M>I | No |
ClinGen gnomAD |
|
|
CA403508437 rs1285393473 |
1368 | L>F | No |
ClinGen TOPMed |
|
|
CA304603999 rs1021700507 |
1369 | S>R | No |
ClinGen gnomAD |
|
|
rs893878528 CA304603997 |
1370 | H>P | No |
ClinGen Ensembl |
|
|
CA304603998 rs909186181 |
1370 | H>Y | No |
ClinGen TOPMed |
|
|
CA9109258 rs760885887 |
1371 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9109255 rs772736665 |
1372 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA304603996 rs751670759 |
1373 | I>T | No |
ClinGen Ensembl |
|
|
CA403508341 rs1210337335 |
1373 | I>V | No |
ClinGen gnomAD |
|
|
CA403508311 rs1358436135 |
1375 | I>V | No |
ClinGen gnomAD |
|
|
CA403508298 rs200850387 |
1376 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9109254 rs200850387 |
1376 | A>T | Variant assessed as Somatic; 9.293e-05 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA403508294 rs1226089200 |
1377 | D>N | No |
ClinGen gnomAD |
|
|
rs1340688664 CA403508269 |
1378 | M>T | No |
ClinGen gnomAD |
|
|
CA403508254 rs373247829 |
1379 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9109253 rs373247829 |
1379 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs558948003 CA9109251 |
1382 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9109249 rs755603479 |
1383 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA403508153 rs114166264 |
1384 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9109248 rs114166264 |
1384 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403508161 rs1394993665 |
1384 | R>W | No |
ClinGen gnomAD |
|
|
CA304603994 rs140530332 |
1388 | N>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs267605547 CA9109246 |
1389 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482164454 CA403507213 |
1391 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1020485119 CA304603993 |
1392 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9109245 rs369098162 |
1393 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1398 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374920205 CA9109217 |
1401 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403507007 rs1455732532 |
1402 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403507005 rs1455732532 |
1402 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA403506879 rs1379803911 |
1410 | H>L | No |
ClinGen gnomAD |
|
|
CA403506881 rs1379803911 |
1410 | H>R | No |
ClinGen gnomAD |
|
|
rs1364755919 CA403506852 |
1412 | N>K | No |
ClinGen gnomAD |
|
|
rs201183797 CA9109214 |
1412 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA304603992 rs201183797 |
1412 | N>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9109212 rs773573468 |
1416 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1399239013 CA403506788 |
1418 | P>A | No |
ClinGen gnomAD |
|
|
rs530579519 CA9109211 |
1418 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403506762 rs1440179947 |
1421 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA403506760 rs1420232605 |
1421 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768182732 CA9109208 |
1425 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs768182732 CA403506709 |
1425 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA304603990 rs976014452 |
1426 | I>L | No |
ClinGen TOPMed |
|
|
CA9109206 rs114545401 |
1427 | A>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9109205 rs114545401 |
1427 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA403506679 rs1283955648 |
1427 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403506660 rs1217838563 |
1429 | D>Y | No |
ClinGen gnomAD |
|
|
rs778834304 CA9109203 |
1430 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1356400067 CA403506641 |
1430 | H>Y | No |
ClinGen gnomAD |
|
|
rs1064298 CA304603989 |
1431 | S>F | No |
ClinGen Ensembl |
|
|
CA403506611 rs1379973129 |
1432 | R>H | No |
ClinGen gnomAD |
|
|
rs190342971 CA9109199 |
1437 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9109198 rs751626412 |
1438 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109197 rs766847307 |
1438 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs528875239 CA403506432 |
1441 | I>F | No |
ClinGen 1000Genomes gnomAD |
|
|
rs528875239 CA304603899 |
1441 | I>L | No |
ClinGen 1000Genomes gnomAD |
|
|
rs747192109 CA9109162 |
1442 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs974923793 CA304603898 |
1442 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs747192109 CA9109161 |
1442 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780295096 CA9109160 |
1443 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA403506412 rs1328615941 |
1444 | S>T | No |
ClinGen TOPMed |
|
|
rs1270305003 CA403506404 |
1445 | D>G | No |
ClinGen TOPMed |
|
|
rs1426779255 CA403506385 |
1448 | N>H | No |
ClinGen gnomAD |
|
|
rs192807174 CA9109155 |
1452 | V>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1031952638 CA304603897 |
1453 | D>N | No |
ClinGen TOPMed |
|
|
CA403506341 rs1457749790 |
1454 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA403506343 rs1457749790 |
1454 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403506333 rs1238817348 |
1455 | Y>C | No |
ClinGen gnomAD |
|
|
rs752266796 CA9109152 |
1456 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9109153 rs373940938 |
1456 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9109151 rs4807697 VAR_047277 |
1457 | C>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs4807697 CA403506326 |
1457 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369756620 CA9109150 |
1457 | C>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1221980061 CA403506309 |
1459 | N>S | No |
ClinGen gnomAD |
|
|
CA9109148 rs189135288 |
1460 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs762790087 CA9109147 |
1460 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403506294 rs1301896231 |
1461 | Y>* | No |
ClinGen gnomAD |
|
|
rs930416291 CA304603896 |
1462 | I>V | No |
ClinGen TOPMed |
|
|
CA403506284 rs1466270055 |
1463 | A>S | No |
ClinGen gnomAD |
|
|
rs1274728310 CA403506275 |
1464 | T>M | No |
ClinGen TOPMed gnomAD |
|
|
rs775641545 CA9109143 |
1466 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA9109142 rs116660613 |
1467 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1255636453 CA403506248 |
1469 | P>L | No |
ClinGen gnomAD |
|
|
CA9109139 rs757423838 |
1477 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA304603895 rs532712500 |
1477 | R>H | No |
ClinGen gnomAD |
|
|
CA9109138 rs749723623 |
1479 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs778389901 CA9109137 |
1480 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs972894021 CA304603894 |
1481 | E>G | No |
ClinGen Ensembl |
|
|
rs767215087 CA9109134 |
1483 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs376549612 CA9109136 |
1483 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1599387546 CA403506148 |
1484 | S>A | No |
ClinGen Ensembl |
|
|
CA9109133 rs754694289 |
1484 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765806159 CA9109131 |
1485 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109130 rs139132124 |
1485 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1487 | I>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1326918817 CA403506132 |
1487 | I>V | No |
ClinGen gnomAD |
|
|
rs116515629 CA9109127 |
1488 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs776422333 CA9109126 |
1489 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9109125 rs768496731 |
1491 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403506097 rs770889503 |
1492 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109122 rs770889503 |
1492 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs369295620 CA9109123 |
1492 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA403506092 rs1285057720 |
1493 | L>R | No |
ClinGen TOPMed |
|
|
CA304603893 rs867284088 |
1494 | E>G | No |
ClinGen Ensembl |
|
|
rs1218678810 CA403506084 |
1495 | E>K | No |
ClinGen gnomAD |
|
|
CA403506063 rs1264309988 |
1497 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs748467965 CA9109118 |
1498 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA304603892 rs748467965 |
1498 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403506061 rs1205787412 |
1498 | R>W | No |
ClinGen TOPMed |
|
|
rs769120046 CA9109099 |
1499 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403506035 rs61729768 |
1500 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA304603887 rs1036033572 |
1502 | D>E | No |
ClinGen Ensembl |
|
|
rs368562196 CA9109096 |
1503 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs939094664 CA304603886 |
1506 | P>L | No |
ClinGen Ensembl |
|
|
CA304603885 rs928845139 |
1507 | N>S | No |
ClinGen gnomAD |
|
|
rs778479954 CA9109094 |
1509 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs147152459 CA9109092 |
1510 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs724159896 CA304603884 |
1511 | E>K | No |
ClinGen Ensembl |
|
|
CA403505958 rs1197491728 |
1512 | T>A | No |
ClinGen gnomAD |
|
|
CA304603883 rs760418863 |
1513 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760418863 CA9109090 |
1513 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403505944 rs1568375584 |
1514 | G>A | No |
ClinGen Ensembl |
|
|
rs116099658 CA403505947 |
1514 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9109088 rs116099658 |
1514 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs540902322 CA9109087 |
1516 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403505926 rs1236009082 |
1517 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403505925 rs1375370905 |
1517 | Q>R | No |
ClinGen gnomAD |
|
|
rs1308542151 CA403505916 |
1518 | V>A | No |
ClinGen gnomAD |
|
|
rs773377919 CA9109086 |
1519 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403505893 rs1166726276 |
1522 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs769320080 CA9109082 |
1525 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs772384138 CA403505835 |
1531 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772384138 CA9109079 |
1531 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403505822 rs1177403750 |
1533 | T>S | No |
ClinGen gnomAD |
|
|
CA9109074 CA403505814 rs533685228 |
1534 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143481159 CA9109076 |
1534 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs527477754 CA9109075 |
1534 | F>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA304603882 rs977538185 |
1535 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs754773533 CA9109070 |
1537 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA304603880 rs747517599 |
1537 | H>Q | No |
ClinGen gnomAD |
|
|
rs1483140281 CA403505801 |
1537 | H>R | No |
ClinGen gnomAD |
|
|
rs750640223 CA9109069 |
1538 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs757568361 CA304603599 |
1545 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754177433 CA9109045 |
1545 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757568361 CA9109046 |
1545 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9109042 rs776015928 |
1546 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs369058883 CA9109040 |
1548 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9109039 rs753499659 |
1548 | R>H | No |
ClinGen ExAC gnomAD |
|
|
CA9109038 rs771340725 |
1549 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1552 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs182037655 CA9109036 |
1553 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1191088838 CA403505007 |
1554 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1248490430 CA403504987 |
1555 | W>C | No |
ClinGen gnomAD |
|
|
rs1196839847 CA403504980 |
1556 | P>L | No |
ClinGen gnomAD |
|
|
rs1258938541 CA403504977 |
1557 | D>Y | No |
ClinGen gnomAD |
|
|
CA403504938 rs150241840 |
1560 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150241840 CA9109029 |
1560 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403504928 rs1368253825 |
1561 | P>T | No |
ClinGen gnomAD |
|
|
CA403504911 rs1375587926 |
1562 | E>A | No |
ClinGen gnomAD |
|
|
CA9109027 rs778163463 |
1562 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9109025 rs752720358 |
1565 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9109024 rs768007031 |
1565 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA403504863 rs1415481564 |
1566 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403504824 rs1397448438 |
1569 | A>D | No |
ClinGen gnomAD |
|
|
rs558410776 CA9109020 |
1572 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9109018 rs769362751 |
1572 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
CA9109019 rs558410776 |
1572 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1482411453 CA403504785 |
1573 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 1573 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1286819853 CA403504720 |
1577 | C>* | No |
ClinGen gnomAD |
|
|
rs544938921 CA9109017 |
1577 | C>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1209168744 CA403504711 |
1578 | N>S | No |
ClinGen gnomAD |
|
|
rs372226485 CA9109015 |
1579 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs372226485 CA9109016 |
1579 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1237948621 CA403504689 |
1580 | P>S | No |
ClinGen gnomAD |
|
|
rs1352291696 CA403504667 |
1581 | D>E | No |
ClinGen gnomAD |
|
|
rs1309412012 CA403504666 |
1582 | A>T | No |
ClinGen gnomAD |
|
|
rs771943247 CA9109012 |
1582 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA9109010 rs777981018 |
1583 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1449197300 CA403504642 |
1584 | P>S | No |
ClinGen gnomAD |
|
|
CA304603594 rs1038424215 |
1585 | I>T | No |
ClinGen Ensembl |
|
|
rs915320010 CA304603595 |
1585 | I>V | No |
ClinGen TOPMed |
|
|
rs1380942206 CA403504608 |
1587 | V>L | No |
ClinGen gnomAD |
|
|
CA9108972 rs571743236 |
1592 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776677741 CA9108971 |
1595 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs1385628370 CA403504477 |
1595 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA403504451 rs1355060495 |
1599 | F>Y | No |
ClinGen TOPMed |
|
|
rs367918810 CA9108968 |
1601 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9108966 rs151279682 |
1603 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9108963 rs377564137 |
1604 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9108964 rs377564137 |
1604 | A>T | Variant assessed as Somatic; 4.656e-05 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA403504396 rs1431393078 |
1607 | E>V | No |
ClinGen gnomAD |
|
|
rs148739536 CA9108960 |
1608 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA9108961 rs142364974 |
1608 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1255744139 CA403504375 |
1611 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1614 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144570007 CA9108955 |
1617 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9108956 rs144570007 |
1617 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1393306881 CA403504325 |
1618 | Y>C | No |
ClinGen TOPMed |
|
|
CA403504305 rs1242977508 |
1621 | V>L | No |
ClinGen TOPMed |
|
|
rs1242977508 CA403504307 |
1621 | V>M | No |
ClinGen TOPMed |
|
|
rs775731386 CA9108951 |
1622 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs1057017143 | 1628 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs751085808 | 1643 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1330569020 | 1644 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1648 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1654 | T>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1314953096 | 1659 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs749770933 | 1659 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs145108936 | 1710 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753283232 | 1715 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1351895585 | 1721 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs768527095 | 1733 | S>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1737 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs758652323 | 1752 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs762745270 | 1756 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1157608522 | 1766 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs779302415 | 1773 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs753489907 | 1774 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1778 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1477121983 | 1798 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771577284 | 1798 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs773706905 | 1801 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1821 | R>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs771526918 | 1834 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1269269717 | 1834 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1161731225 | 1837 | R>W | Variant assessed as Somatic; 4.71e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1846 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs777398236 | 1847 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000901083 rs148478353 |
1852 | S>L | No |
ClinVar dbSNP |
|
| TCGA novel | 1859 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1883 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs759155627 | 1884 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1477222866 | 1887 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs752031088 | 1899 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1903 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1290109580 | 1919 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1927 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1928 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1326058191 | 1935 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
No associated diseases with Q13332
27 regional properties for Q13332
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | Tyrosine-specific protein phosphatase, PTPase domain | 1392 - 1650 | IPR000242-1 |
| domain | Tyrosine-specific protein phosphatase, PTPase domain | 1679 - 1941 | IPR000242-2 |
| domain | Tyrosine-specific protein phosphatases domain | 1568 - 1639 | IPR000387-1 |
| domain | Tyrosine-specific protein phosphatases domain | 1857 - 1930 | IPR000387-2 |
| domain | Protein-tyrosine phosphatase, catalytic | 1546 - 1647 | IPR003595-1 |
| domain | Protein-tyrosine phosphatase, catalytic | 1835 - 1938 | IPR003595-2 |
| domain | Immunoglobulin subtype 2 | 45 - 114 | IPR003598-1 |
| domain | Immunoglobulin subtype 2 | 147 - 223 | IPR003598-2 |
| domain | Immunoglobulin subtype 2 | 257 - 318 | IPR003598-3 |
| domain | Immunoglobulin subtype | 39 - 125 | IPR003599-1 |
| domain | Immunoglobulin subtype | 141 - 235 | IPR003599-2 |
| domain | Immunoglobulin subtype | 251 - 329 | IPR003599-3 |
| domain | Fibronectin type III | 332 - 424 | IPR003961-1 |
| domain | Fibronectin type III | 427 - 523 | IPR003961-2 |
| domain | Fibronectin type III | 525 - 616 | IPR003961-3 |
| domain | Fibronectin type III | 618 - 718 | IPR003961-4 |
| domain | Fibronectin type III | 720 - 831 | IPR003961-5 |
| domain | Fibronectin type III | 832 - 930 | IPR003961-6 |
| domain | Fibronectin type III | 929 - 1033 | IPR003961-7 |
| domain | Fibronectin type III | 1034 - 1120 | IPR003961-8 |
| domain | Immunoglobulin-like domain | 33 - 123 | IPR007110-1 |
| domain | Immunoglobulin-like domain | 135 - 233 | IPR007110-2 |
| domain | Immunoglobulin-like domain | 245 - 327 | IPR007110-3 |
| domain | Immunoglobulin I-set | 33 - 124 | IPR013098-1 |
| domain | Immunoglobulin I-set | 245 - 328 | IPR013098-2 |
| active_site | Protein-tyrosine phosphatase, active site | 1587 - 1597 | IPR016130-1 |
| active_site | Protein-tyrosine phosphatase, active site | 1878 - 1888 | IPR016130-2 |
Functions
| Description | ||
|---|---|---|
| EC Number | 3.1.3.48 | Phosphoric monoester hydrolases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
10 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchoring junction | A cell junction that mechanically attaches a cell (and its cytoskeleton) to neighboring cells or to the extracellular matrix. |
| axon | The long process of a neuron that conducts nerve impulses, usually away from the cell body to the terminals and varicosities, which are sites of storage and release of neurotransmitter. |
| cytosol | The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| growth cone | The migrating motile tip of a growing neuron projection, where actin accumulates, and the actin cytoskeleton is the most dynamic. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of postsynaptic density membrane | The component of the postsynaptic density membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| integral component of synaptic vesicle membrane | The component of the synaptic vesicle membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| perikaryon | The portion of the cell soma (neuronal cell body) that excludes the nucleus. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| chondroitin sulfate binding | Binding to chondroitin sulfate, a glycosaminoglycan made up of two alternating monosaccharides: D-glucuronic acid (GlcA) and N-acetyl-D-galactosamine (GalNAc). |
| heparan sulfate proteoglycan binding | Binding to a heparan sulfate proteoglycan, any proteoglycan containing heparan sulfate as the glycosaminoglycan carbohydrate unit. |
| heparin binding | Binding to heparin, a member of a group of glycosaminoglycans found mainly as an intracellular component of mast cells and which consist predominantly of alternating alpha-(1->4)-linked D-galactose and N-acetyl-D-glucosamine-6-sulfate residues. |
| phosphoprotein phosphatase activity | Catalysis of the reaction: a phosphoprotein + H2O = a protein + phosphate. Together with protein kinases, these enzymes control the state of phosphorylation of cellular proteins and thereby provide an important mechanism for regulating cellular activity. |
| protein tyrosine phosphatase activity | Catalysis of the reaction: protein tyrosine phosphate + H2O = protein tyrosine + phosphate. |
11 GO annotations of biological process
| Name | Definition |
|---|---|
| negative regulation of axon extension | Any process that stops, prevents, or reduces the frequency, rate or extent of axon outgrowth. |
| negative regulation of axon regeneration | Any process that stops, prevents, or reduces the frequency, rate or extent of axon regeneration. |
| negative regulation of collateral sprouting | Any process that stops, prevents, or reduces the frequency, rate or extent of collateral sprouting. |
| negative regulation of dendritic spine development | Any process that decreases the rate, frequency, or extent of dendritic spine development, the process whose specific outcome is the progression of the dendritic spine over time, from its formation to the mature structure. |
| negative regulation of interferon-alpha production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-alpha production. |
| negative regulation of interferon-beta production | Any process that stops, prevents, or reduces the frequency, rate, or extent of interferon-beta production. |
| negative regulation of neuron projection development | Any process that decreases the rate, frequency or extent of neuron projection development. Neuron projection development is the process whose specific outcome is the progression of a neuron projection over time, from its formation to the mature structure. A neuron projection is any process extending from a neural cell, such as axons or dendrites (collectively called neurites). |
| negative regulation of toll-like receptor 9 signaling pathway | Any process that stops, prevents, or reduces the frequency, rate, or extent of toll-like receptor 9 signaling pathway. |
| peptidyl-tyrosine dephosphorylation | The removal of phosphoric residues from peptidyl-O-phospho-tyrosine to form peptidyl-tyrosine. |
| protein dephosphorylation | The process of removing one or more phosphoric residues from a protein. |
| synaptic membrane adhesion | The attachment of presynaptic membrane to postsynaptic membrane via adhesion molecules that are at least partially embedded in the plasma membrane. |
9 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P08575 | PTPRC | Receptor-type tyrosine-protein phosphatase C | Homo sapiens (Human) | PR |
| P28827 | PTPRM | Receptor-type tyrosine-protein phosphatase mu | Homo sapiens (Human) | PR |
| Q15262 | PTPRK | Receptor-type tyrosine-protein phosphatase kappa | Homo sapiens (Human) | PR |
| P10586 | PTPRF | Receptor-type tyrosine-protein phosphatase F | Homo sapiens (Human) | PR |
| P23468 | PTPRD | Receptor-type tyrosine-protein phosphatase delta | Homo sapiens (Human) | PR |
| P43378 | PTPN9 | Tyrosine-protein phosphatase non-receptor type 9 | Homo sapiens (Human) | PR |
| P49446 | Ptpre | Receptor-type tyrosine-protein phosphatase epsilon | Mus musculus (Mouse) | PR |
| Q64487 | Ptprd | Receptor-type tyrosine-protein phosphatase delta | Mus musculus (Mouse) | PR |
| P35822 | Ptprk | Receptor-type tyrosine-protein phosphatase kappa | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAPTWGPGMV | SVVGPMGLLV | VLLVGGCAAE | EPPRFIKEPK | DQIGVSGGVA | SFVCQATGDP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| KPRVTWNKKG | KKVNSQRFET | IEFDESAGAV | LRIQPLRTPR | DENVYECVAQ | NSVGEITVHA |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KLTVLREDQL | PSGFPNIDMG | PQLKVVERTR | TATMLCAASG | NPDPEITWFK | DFLPVDPSAS |
| 190 | 200 | 210 | 220 | 230 | 240 |
| NGRIKQLRSE | TFESTPIRGA | LQIESSEETD | QGKYECVATN | SAGVRYSSPA | NLYVRELREV |
| 250 | 260 | 270 | 280 | 290 | 300 |
| RRVAPRFSIL | PMSHEIMPGG | NVNITCVAVG | SPMPYVKWMQ | GAEDLTPEDD | MPVGRNVLEL |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TDVKDSANYT | CVAMSSLGVI | EAVAQITVKS | LPKAPGTPMV | TENTATSITI | TWDSGNPDPV |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SYYVIEYKSK | SQDGPYQIKE | DITTTRYSIG | GLSPNSEYEI | WVSAVNSIGQ | GPPSESVVTR |
| 430 | 440 | 450 | 460 | 470 | 480 |
| TGEQAPASAP | RNVQARMLSA | TTMIVQWEEP | VEPNGLIRGY | RVYYTMEPEH | PVGNWQKHNV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| DDSLLTTVGS | LLEDETYTVR | VLAFTSVGDG | PLSDPIQVKT | QQGVPGQPMN | LRAEARSETS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| ITLSWSPPRQ | ESIIKYELLF | REGDHGREVG | RTFDPTTSYV | VEDLKPNTEY | AFRLAARSPQ |
| 610 | 620 | 630 | 640 | 650 | 660 |
| GLGAFTPVVR | QRTLQSKPSA | PPQDVKCVSV | RSTAILVSWR | PPPPETHNGA | LVGYSVRYRP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| LGSEDPEPKE | VNGIPPTTTQ | ILLEALEKWT | QYRITTVAHT | EVGPGPESSP | VVVRTDEDVP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| SAPPRKVEAE | ALNATAIRVL | WRSPAPGRQH | GQIRGYQVHY | VRMEGAEARG | PPRIKDVMLA |
| 790 | 800 | 810 | 820 | 830 | 840 |
| DAQWETDDTA | EYEMVITNLQ | PETAYSITVA | AYTMKGDGAR | SKPKVVVTKG | AVLGRPTLSV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| QQTPEGSLLA | RWEPPAGTAE | DQVLGYRLQF | GREDSTPLAT | LEFPPSEDRY | TASGVHKGAT |
| 910 | 920 | 930 | 940 | 950 | 960 |
| YVFRLAARSR | GGLGEEAAEV | LSIPEDTPRG | HPQILEAAGN | ASAGTVLLRW | LPPVPAERNG |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| AIVKYTVAVR | EAGALGPARE | TELPAAAEPG | AENALTLQGL | KPDTAYDLQV | RAHTRRGPGP |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| FSPPVRYRTF | LRDQVSPKNF | KVKMIMKTSV | LLSWEFPDNY | NSPTPYKIQY | NGLTLDVDGR |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| TTKKLITHLK | PHTFYNFVLT | NRGSSLGGLQ | QTVTAWTAFN | LLNGKPSVAP | KPDADGFIMV |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| YLPDGQSPVP | VQSYFIVMVP | LRKSRGGQFL | TPLGSPEDMD | LEELIQDISR | LQRRSLRHSR |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| QLEVPRPYIA | ARFSVLPPTF | HPGDQKQYGG | FDNRGLEPGH | RYVLFVLAVL | QKSEPTFAAS |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| PFSDPFQLDN | PDPQPIVDGE | EGLIWVIGPV | LAVVFIICIV | IAILLYKNKP | DSKRKDSEPR |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| TKCLLNNADL | APHHPKDPVE | MRRINFQTPD | SGLRSPLREP | GFHFESMLSH | PPIPIADMAE |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| HTERLKANDS | LKLSQEYESI | DPGQQFTWEH | SNLEVNKPKN | RYANVIAYDH | SRVILQPIEG |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| IMGSDYINAN | YVDGYRCQNA | YIATQGPLPE | TFGDFWRMVW | EQRSATIVMM | TRLEEKSRIK |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| CDQYWPNRGT | ETYGFIQVTL | LDTIELATFC | VRTFSLHKNG | SSEKREVRQF | QFTAWPDHGV |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| PEYPTPFLAF | LRRVKTCNPP | DAGPIVVHCS | AGVGRTGCFI | VIDAMLERIK | PEKTVDVYGH |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| VTLMRSQRNY | MVQTEDQYSF | IHEALLEAVG | CGNTEVPARS | LYAYIQKLAQ | VEPGEHVTGM |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| ELEFKRLANS | KAHTSRFISA | NLPCNKFKNR | LVNIMPYEST | RVCLQPIRGV | EGSDYINASF |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| IDGYRQQKAY | IATQGPLAET | TEDFWRMLWE | NNSTIVVMLT | KLREMGREKC | HQYWPAERSA |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| RYQYFVVDPM | AEYNMPQYIL | REFKVTDARD | GQSRTVRQFQ | FTDWPEQGVP | KSGEGFIDFI |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| GQVHKTKEQF | GQDGPISVHC | SAGVGRTGVF | ITLSIVLERM | RYEGVVDIFQ | TVKMLRTQRP |
| 1930 | 1940 | ||||
| AMVQTEDEYQ | FCYQAALEYL | GSFDHYAT |