Q92887
SS
Gene name |
ABCC2 (CMOAT, CMOAT1, CMRP, MRP2) |
Protein name |
ATP-binding cassette sub-family C member 2 |
Names |
EC 7.6.2.- , EC 7.6.2.2 , EC 7.6.2.3 , Canalicular multidrug resistance protein , Canalicular multispecific organic anion transporter 1 , Multidrug resistance-associated protein 2 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:1244 |
EC number |
7.6.2.2: Linked to the hydrolysis of a nucleoside triphosphate |
Protein Class |
|
Descriptions
MRP2 (Multidrug resistance-associated protein 2) is an efflux transporter for organic anions, expressed in hepatocyte canalicular membranes. It plays a role in exporting bilirubin glucuronide, a breakdown product of heme. The structural analysis of rat Mrp2 (rMrp2) reveals an autoinhibited state where the regulatory domain (R-domain) is folded within the transmembrane domain cavity, preventing substrate binding and NBD:NBD interface formation. Phosphorylation of the R-domain by intracellular kinases relieves autoinhibition, enhancing rMrp2 transport activity. The drug-bound state of rMrp2 shows two probenecid binding sites, suggesting a dynamic interplay with autoinhibition and providing insights into drug modulation of MRP2 activity.
Autoinhibitory domains (AIDs)
Target domain |
324-605 (Transmembrane domain 1);980-1264 (Transmembrane domain 2) |
Relief mechanism |
PTM |
Assay |
|
Accessory elements
No accessory elements
1388 variants for Q92887
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
CA5642748 RCV001103774 RCV000733111 rs375147383 |
8 | S>F | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5642767 rs141278106 RCV003106114 RCV001103776 |
19 | P>L | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002549711 RCV000988441 rs927344 CA5642784 VAR_047152 |
39 | Y>F | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5642793 rs145346144 RCV001105714 |
57 | K>Q | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs761468521 RCV001329234 |
57 | K>R | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001105715 rs148791847 CA5642817 |
72 | V>I | Variant assessed as Somatic; 0.0 impact. Dubin-Johnson syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1564670777 RCV000778266 |
138 | L>missing | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs138663047 RCV000732796 RCV002493347 CA5642914 |
173 | G>R | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001105717 rs1382048442 |
226 | V>D | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs17222744 CA5642986 RCV001106831 RCV000595396 CA5642984 VAR_029113 RCV000730899 |
246 | M>L | Dubin-Johnson syndrome Dubin-johnson syndrome (djs) [ClinVar, Ensembl] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD UniProt |
|
CA5642989 RCV000361972 rs139964853 |
255 | R>Q | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000487870 CA203405 VAR_013324 RCV001106832 rs56131651 RCV000179756 |
281 | S>N | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs200342237 CA5643030 RCV000732313 RCV002535266 |
303 | K>R | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000594270 RCV003160057 rs375385616 CA5643035 |
320 | M>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
VAR_020226 RCV001106833 CA5643040 rs17222674 RCV000597972 |
333 | D>G | Dubin-johnson syndrome (djs) Dubin-Johnson syndrome decreased expression; altered subcellular localization; altered transporter activity [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001106834 rs149854486 RCV000335417 CA5643042 |
336 | T>M | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs864309675 RCV000203293 |
338 | V>missing | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs7080681 RCV000273329 RCV000969591 CA5643074 VAR_020227 |
353 | R>H | Dubin-Johnson syndrome altered transporter activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5643100 RCV002535396 rs763509429 RCV000734795 |
393 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000595125 CA5643098 RCV001809690 rs777902199 |
393 | R>W | Variant assessed as Somatic; 0.0 impact. Dubin-Johnson syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs199595780 RCV000388608 CA5643134 |
417 | V>A | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5643133 RCV000333965 RCV000254241 rs2273697 VAR_013325 RCV001723837 |
417 | V>I | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001103868 CA5643141 rs769259115 |
438 | M>V | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000729489 rs776087856 CA5643145 RCV000778267 |
442 | W>* | Dubin-johnson syndrome (djs) Dubin-Johnson syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000280205 rs71488021 CA10629663 |
449 | V>A | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000596235 VAR_070607 rs17222589 CA5643176 RCV001103871 |
486 | T>I | Dubin-johnson syndrome (djs) Dubin-Johnson syndrome altered transporter activity [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA200783 RCV000173998 rs17222561 RCV000966387 VAR_029115 RCV001103872 |
495 | K>E | Dubin-johnson syndrome (djs) Dubin-Johnson syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002509526 RCV000733363 CA5643226 rs781337846 |
529 | R>Q | Variant assessed as Somatic; 0.0 impact. Dubin-Johnson syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001473723 RCV002520523 RCV000375624 rs149593061 CA5643228 |
534 | K>N | Dubin-Johnson syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001104152 CA5643241 rs191954987 |
553 | T>I | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs145520251 RCV000591348 CA5643261 RCV002506440 |
566 | V>I | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs762486508 RCV001104153 CA5643273 |
595 | M>V | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA5643311 RCV001104154 rs771619987 |
619 | G>W | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000597846 RCV000340687 CA5643314 rs141413284 |
620 | D>E | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000879036 CA5643371 rs17222632 VAR_020228 RCV001104155 |
670 | I>T | Dubin-johnson syndrome (djs) Dubin-Johnson syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs778892744 RCV001104156 CA5643373 |
674 | G>S | Variant assessed as Somatic; 0.0 impact. Dubin-Johnson syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000728196 CA5643384 rs199859869 RCV001106928 |
698 | K>R | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001106929 rs371103752 CA5643409 |
719 | I>V | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs786205465 RCV000171189 RCV000305954 CA235819 |
758 | G>V | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV001106930 CA378117611 rs1369784733 |
766 | K>Q | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002536413 CA5643446 rs536840524 RCV000728567 |
768 | R>Q | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_000099 rs56199535 RCV000008923 RCV000726727 CA119596 |
768 | R>W | Dubin-johnson syndrome (djs) Dubin-Johnson syndrome DJS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV000726880 rs772673105 RCV000342000 |
788 | L>missing | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5643461 RCV002067788 rs56220353 RCV001106931 VAR_013326 |
789 | S>F | Dubin-johnson syndrome (djs) Dubin-Johnson syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001809792 CA5643489 RCV000734741 rs773850184 |
815 | R>* | Variant assessed as Somatic; 0.0 impact. Dubin-Johnson syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs147649283 RCV000305806 RCV002518056 CA5643492 |
821 | S>G | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs2038480826 RCV001329846 |
834 | L>P | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV002520524 CA5643510 rs17222617 RCV000394137 VAR_020229 |
849 | L>R | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5643519 rs201820826 RCV002261035 RCV000310100 |
863 | L>P | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000761746 rs112758556 RCV000318770 RCV000274873 CA5643568 |
915 | R>C | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs775944091 RCV000593116 RCV000763637 CA5643600 |
919 | S>T | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
VAR_070608 RCV000953284 rs41318029 CA5643602 RCV001107593 |
921 | G>S | Dubin-johnson syndrome (djs) Dubin-Johnson syndrome altered transporter activity [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5643614 RCV001107594 rs112339372 RCV000761747 RCV000292976 |
938 | S>N | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs772482844 RCV001103980 RCV000731815 CA5643641 |
971 | L>V | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000387053 VAR_029117 RCV001103982 RCV000761748 rs17222554 CA5643651 |
982 | I>V | Dubin-johnson syndrome (djs) Dubin-Johnson syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5643658 rs145105011 RCV001103984 |
988 | M>I | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5643657 RCV002485929 RCV000733335 rs748479566 |
988 | M>K | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs572224582 TCGA novel CA5643660 RCV000779012 |
999 | W>* | Variant assessed as Somatic; impact. Dubin-Johnson syndrome [NCI-TCGA, ClinVar] | Yes |
NCI-TCGA ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
rs147566977 RCV000595438 RCV000763638 CA5643661 |
1003 | W>L | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5643666 rs774137965 RCV001103985 |
1009 | I>V | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000727607 rs144521346 RCV001103986 CA5643669 |
1019 | Q>H | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5643675 RCV000275779 RCV002522138 rs374311166 |
1023 | R>I | Dubin-Johnson syndrome Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA201917 VAR_020230 RCV000176368 rs45441199 RCV000972073 RCV001104272 |
1036 | I>T | Dubin-Johnson syndrome no effect on transporter activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5643713 rs17222540 RCV000761749 VAR_029118 RCV001104274 RCV000372140 |
1063 | N>S | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA129838 RCV000024307 rs72558199 RCV000725912 |
1066 | R>* | Dubin-johnson syndrome (djs) Dubin-Johnson syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs145672804 RCV000591217 CA5643725 RCV001104275 |
1079 | R>Q | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs138221862 CA5643726 RCV000371422 |
1080 | I>T | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5643729 rs769152380 RCV000263290 |
1086 | G>S | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5643756 RCV001107034 RCV000597201 rs142715085 |
1100 | R>C | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs775771081 RCV000489957 RCV003129872 |
1114 | V>missing | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs762914474 RCV000366725 RCV000853302 |
1134 | Y>missing | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs752720879 CA5643805 RCV001195954 |
1139 | M>I | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs72558200 VAR_013327 RCV000008930 CA119604 |
1150 | R>H | Dubin-johnson syndrome (djs) Dubin-Johnson syndrome DJS; protein is properly localized at the plasma membrane, but transporter activity is impaired [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000594302 rs140680467 RCV000283239 CA5643832 |
1167 | V>A | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000727693 CA119602 rs72558201 RCV000008929 VAR_013328 |
1173 | I>F | Dubin-johnson syndrome (djs) Dubin-Johnson syndrome DJS; decreased expression and mislocation to the endoplasmic reticulum [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
RCV000591203 rs139188247 CA5643835 VAR_070609 RCV002491212 |
1174 | R>H | Dubin-Johnson syndrome decreased expression; altered subcellular localization; decreased transporter activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000176524 RCV000378633 CA201964 rs8187692 RCV000947277 VAR_020231 |
1181 | R>L | Dubin-Johnson syndrome decreased expression [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs8187692 RCV001107036 CA5643842 |
1181 | R>Q | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_020232 RCV000288970 RCV001711894 rs17222723 CA5643849 |
1188 | V>E | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA212866225 CA5643903 rs144967259 RCV000406012 RCV000731436 |
1216 | N>K | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_070610 CA5643919 rs757141905 RCV001107693 |
1244 | N>K | Dubin-johnson syndrome (djs) Dubin-Johnson syndrome decreased transporter activity [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
CA10636711 RCV000309246 rs886046620 |
1272 | I>T | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5643954 RCV000965149 rs8187699 VAR_024360 RCV001107695 |
1273 | T>A | Dubin-johnson syndrome (djs) Dubin-Johnson syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001107696 rs2038979968 |
1278 | V>L | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA378126647 rs1590192032 RCV000853304 |
1284 | W>* | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000322326 RCV000350050 CA5643981 rs143990242 |
1296 | S>R | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000401910 RCV000315231 CA5643994 rs759452729 |
1325 | G>S | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs72558202 RCV000008927 CA119599 VAR_010756 |
1382 | Q>R | Dubin-johnson syndrome (djs) Dubin-Johnson syndrome DJS [Ensembl, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt dbSNP gnomAD |
| VAR_013329 | 1392 | R>del | DJS; impaired transport from the endoplasmic reticulum to the apical plasma membrane associated with impaired maturation [UniProt] | Yes | UniProt |
|
rs762346634 RCV001267596 RCV001009274 |
1414 | H>missing | Inborn genetic diseases [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000390732 CA5644118 RCV002504026 rs56296335 |
1450 | A>S | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001104372 rs142573385 RCV000326654 CA5644132 |
1477 | T>M | Dubin-johnson syndrome (djs) Dubin-Johnson syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA10636712 RCV000358500 rs886046621 |
1483 | F>V | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs780026074 CA5644137 RCV000266434 |
1485 | H>R | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
VAR_020234 RCV000329504 rs8187710 CA5644184 RCV001723883 |
1515 | C>Y | Dubin-Johnson syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000898527 rs533470370 CA5644192 RCV001107121 |
1523 | Q>P | Dubin-johnson syndrome (djs) Dubin-Johnson syndrome [Ensembl, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs749476023 CA5642746 |
3 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1266994286 CA378100119 |
5 | F>S | No |
ClinGen TOPMed |
|
|
CA378100124 rs1208413085 |
6 | C>R | No |
ClinGen TOPMed |
|
|
rs769004636 CA5642747 |
6 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1420969492 CA378100154 |
10 | F>S | No |
ClinGen gnomAD |
|
|
CA5642749 rs748623159 |
10 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378100679 rs1193992791 |
15 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1414407577 CA378100693 |
17 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 18 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1433080106 CA378100711 |
20 | E>G | No |
ClinGen gnomAD |
|
|
rs747479981 CA5642770 |
21 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5642771 rs769292618 |
22 | D>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 24 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762628115 CA5642773 |
24 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5642775 rs150765440 |
26 | C>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5642776 rs761583735 |
29 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs562413451 CA5642777 |
30 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1564665958 CA378100782 |
31 | V>A | No |
ClinGen Ensembl |
|
|
CA378100786 rs1172766973 |
32 | L>P | No |
ClinGen TOPMed |
|
|
CA378100785 rs1182566622 |
32 | L>V | No |
ClinGen Ensembl |
|
|
rs139131305 CA5642778 |
33 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs139131305 CA378100789 |
33 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5642780 rs766440827 |
34 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA212846377 rs757900831 |
35 | I>T | No |
ClinGen Ensembl |
|
|
CA5642781 rs368821808 |
36 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 37 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5642782 rs755131559 |
37 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 38 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590134009 CA378100831 |
39 | Y>* | No |
ClinGen Ensembl |
|
|
rs927344 CA378100829 |
39 | Y>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378100828 rs927344 |
39 | Y>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1257093850 CA378100835 |
40 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1395260791 CA378100861 |
44 | A>V | No |
ClinGen gnomAD |
|
|
CA378100865 rs1443387807 |
45 | P>S | No |
ClinGen gnomAD |
|
|
RCV000596062 rs778300481 CA5642786 |
46 | W>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 47 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378100877 rs1444324174 |
47 | Q>K | No |
ClinGen TOPMed |
|
|
CA378100900 rs1281231157 |
50 | H>P | No |
ClinGen TOPMed |
|
|
rs147471996 CA378100905 |
51 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs147471996 CA5642788 |
51 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1554845888 CA378100916 RCV000594763 |
52 | Y>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5642792 rs768214282 |
55 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs761468521 CA5642794 |
57 | K>M | No |
ClinGen ExAC gnomAD |
|
|
CA378100959 rs1474310307 |
59 | S>P | No |
ClinGen Ensembl |
|
|
CA378100970 rs1438020162 |
61 | T>A | No |
ClinGen gnomAD |
|
|
rs1183047323 CA378100980 |
62 | T>S | No |
ClinGen gnomAD |
|
|
CA378100987 rs41286890 |
63 | K>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378100989 rs1471915301 |
64 | L>F | No |
ClinGen gnomAD |
|
|
rs1321894236 CA378100994 |
64 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA212846487 rs766200636 |
65 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766200636 CA5642798 |
65 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 66 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs375805189 CA5642799 |
68 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145427140 RCV000728428 CA5642800 |
69 | Q>P | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5642814 RCV000596839 rs199700510 |
70 | V>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs199700510 CA378101710 |
70 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770824435 CA5642816 |
71 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5642818 rs765361901 |
72 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA378101749 rs1229176388 |
76 | L>P | No |
ClinGen gnomAD |
|
|
CA5642821 rs763168977 |
77 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA378101791 rs1199759177 |
83 | L>R | No |
ClinGen TOPMed |
|
|
CA5642824 rs757560484 |
83 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1484538477 CA378101797 |
84 | A>G | No |
ClinGen gnomAD |
|
|
rs750844583 CA5642826 |
85 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA378101808 rs1190592190 |
86 | V>A | No |
ClinGen gnomAD |
|
|
rs959197182 CA212829314 |
87 | L>F | No |
ClinGen Ensembl |
|
|
RCV000729561 CA378101818 rs1564669915 |
88 | T>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1564669915 CA378101819 |
88 | T>R | No |
ClinGen Ensembl |
|
| TCGA novel | 89 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780578920 CA5642827 |
89 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5642828 rs747631052 |
92 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA5642830 rs757957967 |
93 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA5642829 rs757957967 |
93 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 95 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 97 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5642832 rs770576906 |
98 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1364066487 CA378101883 |
99 | V>L | No |
ClinGen gnomAD |
|
|
rs529588584 CA5642834 |
100 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs529588584 CA5642835 |
100 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5642837 rs547716861 |
100 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1440501893 CA378101902 |
102 | T>I | No |
ClinGen TOPMed |
|
|
rs1208656081 CA378101905 |
103 | N>D | No |
ClinGen gnomAD |
|
|
CA378101907 rs1255982060 |
103 | N>S | No |
ClinGen gnomAD |
|
|
CA212829367 rs866184400 |
105 | S>N | No |
ClinGen Ensembl |
|
|
rs369365906 CA5642839 |
106 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1419747426 CA378101941 |
108 | L>P | No |
ClinGen TOPMed |
|
|
rs762116980 CA5642841 |
109 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5642840 rs762116980 |
109 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5642864 rs200755148 |
113 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5642866 rs370178040 |
117 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1287072917 CA378102545 |
119 | Y>C | No |
ClinGen gnomAD |
|
|
CA5642869 rs202137941 |
123 | W>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA212830299 rs140642817 |
123 | W>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5642868 rs140642817 |
123 | W>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA5642870 rs754539916 |
124 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378102586 rs1221051389 |
125 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA378102593 rs1251677719 |
126 | Q>* | No |
ClinGen gnomAD |
|
|
rs375303240 CA5642871 |
128 | N>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1475482528 CA378102623 |
130 | W>* | No |
ClinGen gnomAD |
|
|
CA378102630 rs1485386941 |
131 | F>L | No |
ClinGen TOPMed |
|
|
rs768605704 CA5642873 |
132 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA212830324 rs748801711 |
136 | W>* | No |
ClinGen Ensembl |
|
|
rs377486283 CA212830326 |
137 | I>S | No |
ClinGen ESP TOPMed |
|
|
rs748245551 CA5642875 |
138 | L>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs772107587 CA5642876 |
139 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212830332 rs772107587 |
139 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760898763 CA5642878 |
140 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA378102685 rs1432089433 |
140 | I>L | No |
ClinGen gnomAD |
|
|
CA5642879 rs771234305 |
141 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5642880 rs777014829 |
144 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5642881 rs759860316 |
146 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1376977453 CA378102725 |
146 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 148 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378102743 rs1298684275 |
148 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs765756613 CA5642882 |
149 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1354101218 CA378102746 |
149 | T>S | No |
ClinGen TOPMed |
|
|
CA5642884 rs371113793 |
152 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5642883 rs146452937 |
152 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140841926 CA5642885 |
154 | L>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs750041547 CA5642886 |
156 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212830545 rs140550051 |
157 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000596785 CA5642903 rs140550051 |
157 | G>V | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs769798659 RCV000597758 |
159 | N>missing | No |
ClinVar dbSNP |
|
|
rs150083455 CA212830554 |
159 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA378102826 rs1166837675 |
161 | N>H | No |
ClinGen TOPMed |
|
|
rs967364024 CA212830557 |
162 | L>I | No |
ClinGen Ensembl |
|
|
rs775999587 CA5642906 |
163 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212830564 rs986071454 |
164 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA5642907 rs763384555 |
165 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA378102859 rs1174674397 |
166 | C>* | No |
ClinGen gnomAD |
|
|
rs767088436 CA5642908 |
166 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs767088436 CA5642909 |
166 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs767088436 CA378102858 |
166 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA5642911 rs760309302 |
168 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212830584 rs978948085 |
169 | F>L | No |
ClinGen TOPMed |
|
|
CA212830596 rs991704017 |
173 | G>E | No |
ClinGen gnomAD |
|
|
CA5642917 rs752628817 |
175 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA378102935 rs758360846 |
178 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758360846 CA5642918 |
178 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5642919 rs777729976 |
182 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149688690 CA5642920 |
186 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1207538473 CA378103060 CA378103062 |
190 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs149329378 CA5642921 |
190 | S>P | No |
ClinGen ESP ExAC |
|
|
CA5642923 rs746082160 |
192 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378103195 rs1459643176 |
199 | S>* | No |
ClinGen gnomAD |
|
|
rs749655460 CA5642945 |
201 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378103232 rs1390267200 |
202 | S>N | No |
ClinGen gnomAD |
|
|
CA5642947 rs774931173 |
204 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs201974074 CA212830948 |
207 | S>R | No |
ClinGen TOPMed |
|
|
CA5642949 rs770512658 |
209 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1396526793 CA378103351 |
209 | Y>C | No |
ClinGen TOPMed |
|
|
CA5642950 rs143584410 |
211 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA378104183 rs1465538873 |
213 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1190693560 CA378104220 |
216 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1190693560 CA378104219 |
216 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs202129492 CA5642966 RCV000317880 |
217 | Y>S | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
rs1359130315 CA378104240 |
218 | K>N | No |
ClinGen gnomAD |
|
|
rs554127506 CA5642967 |
218 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378104236 rs554127506 |
218 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5642969 RCV000730834 rs572309746 |
219 | R>C | Variant assessed as Somatic; 4.62e-05 impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5642968 rs572309746 |
219 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5642970 rs138121128 |
219 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5642971 rs201145273 |
220 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768392258 CA5642973 |
223 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA378104281 rs1404271474 |
224 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA378104312 rs1382048442 |
226 | V>A | No |
ClinGen gnomAD |
|
|
CA378104305 rs1364001495 |
226 | V>I | No |
ClinGen gnomAD |
|
|
rs774163715 RCV000730893 CA5642974 |
228 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1564673265 CA378104342 |
229 | V>I | No |
ClinGen Ensembl |
|
|
CA378104374 rs1248986482 |
232 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1314486961 RCV000730197 |
233 | M>missing | No |
ClinVar dbSNP |
|
|
rs761638769 CA5642975 |
233 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs112878826 CA5642978 |
236 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378104459 rs1210667442 |
239 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs750440697 CA212832654 |
240 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5642979 RCV000374117 rs750440697 |
240 | S>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5642981 rs200570593 |
244 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5642983 rs755278187 |
245 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 246 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs17222744 CA5642985 |
246 | M>V | Dubin-johnson syndrome (djs) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1458417288 CA378104571 |
247 | K>R | No |
ClinGen gnomAD |
|
|
CA5642987 rs778142003 |
249 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA378104587 rs375549546 |
249 | E>K | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA212832678 rs375549546 |
249 | E>Q | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA378104629 rs1278520457 |
253 | A>T | No |
ClinGen TOPMed |
|
|
rs139964853 CA5642990 |
255 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000733388 CA5642988 rs147494662 |
255 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1370098693 CA378104655 |
256 | A>S | No |
ClinGen gnomAD |
|
|
CA378104686 rs1403478645 |
259 | R>G | No |
ClinGen gnomAD |
|
| TCGA novel | 259 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5642993 rs141855755 |
260 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5642992 rs141855755 |
260 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370287805 CA5642991 |
260 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs771901947 CA5642995 |
265 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 267 | Q>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5642996 rs772960810 |
267 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5642998 rs766329304 |
270 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs776821017 CA5642999 |
270 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA378104820 rs1252499407 |
272 | R>S | No |
ClinGen gnomAD |
|
|
rs368116041 CA378104823 |
273 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1158274146 RCV000731442 |
274 | P>missing | No |
ClinVar dbSNP |
|
|
CA378104833 rs1351549341 |
274 | P>S | No |
ClinGen gnomAD |
|
|
CA378104843 rs1451896108 |
275 | G>D | No |
ClinGen TOPMed |
|
|
rs765544671 CA5643001 |
275 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA378104855 rs1406555731 |
276 | L>F | No |
ClinGen gnomAD |
|
|
CA5643003 rs753036793 |
277 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA5643004 rs751966215 |
282 | Q>* | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 282 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378104944 rs1590147319 |
284 | Q>E | No |
ClinGen Ensembl |
|
|
CA5643006 rs113972365 |
287 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1444589804 CA378104981 |
287 | L>R | No |
ClinGen TOPMed |
|
|
CA378104974 rs113972365 |
287 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378104984 rs1055472475 |
288 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA212832778 rs1055472475 |
288 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs750931555 CA5643024 |
290 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA378105107 rs1430820147 |
290 | E>K | No |
ClinGen Ensembl |
|
|
CA212833715 rs978166050 |
292 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1188740044 CA378105134 |
292 | V>F | No |
ClinGen gnomAD |
|
|
rs754424951 CA5643025 |
294 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378105161 rs1166481394 |
295 | K>Q | No |
ClinGen gnomAD |
|
|
CA5643027 rs778413437 |
297 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs759781877 | 297 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1181312696 CA378105199 |
298 | K>E | No |
ClinGen TOPMed |
|
| rs759781877 | 298 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 299 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 299 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1488205308 CA378105259 |
304 | D>V | No |
ClinGen TOPMed |
|
|
rs931458251 CA212833747 |
305 | V>A | No |
ClinGen gnomAD |
|
|
CA378105264 rs1403912897 |
305 | V>I | No |
ClinGen gnomAD |
|
|
CA378105278 rs1284281849 |
306 | P>L | No |
ClinGen TOPMed |
|
|
CA378105289 CA378105291 rs1321536602 |
307 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 308 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs553674996 CA5643031 |
310 | L>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1248865630 CA378105322 |
311 | M>L | No |
ClinGen TOPMed |
|
|
CA378105328 rs1269329134 |
311 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5643032 rs565840553 |
313 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378105361 rs1220814117 |
314 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA212833770 rs939311117 |
317 | T>S | No |
ClinGen TOPMed |
|
|
rs1590149143 CA378105408 |
318 | F>S | No |
ClinGen Ensembl |
|
|
rs1049949075 CA212833777 |
319 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA378105419 rs1049949075 |
319 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1444898331 CA378105454 |
322 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA378105456 rs1444898331 |
322 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1241849163 CA378105462 |
323 | L>P | No |
ClinGen gnomAD |
|
|
CA5643036 rs769945419 |
324 | K>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000343826 rs371866713 CA378105483 CA5643037 |
325 | S>* | No |
ClinGen ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
|
CA212833800 rs199528736 |
328 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes NCI-TCGA |
|
rs768904287 CA5643039 |
331 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1391139240 CA378105944 |
332 | N>D | No |
ClinGen gnomAD |
|
|
CA378105969 rs1590149250 |
334 | I>V | No |
ClinGen Ensembl |
|
|
rs1331415317 CA378105988 |
335 | F>C | No |
ClinGen gnomAD |
|
|
rs149854486 CA5643043 |
336 | T>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378105999 rs149854486 RCV000597818 |
336 | T>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1344774157 CA378106008 |
337 | F>Y | No |
ClinGen gnomAD |
|
|
RCV000728712 rs1564674618 |
339 | S>missing | No |
ClinVar dbSNP |
|
|
CA5643046 rs766835577 |
339 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261513094 CA378106026 |
339 | S>R | No |
ClinGen TOPMed |
|
|
CA5643045 rs766835577 |
339 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378106040 rs1210063784 |
341 | Q>R | No |
ClinGen gnomAD |
|
|
rs751209236 CA5643068 |
345 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212834478 rs867302897 |
348 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 348 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1384309752 CA378106106 |
350 | A>P | No |
ClinGen gnomAD |
|
|
CA5643070 RCV000733274 rs1288501345 |
351 | S>G | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
CA5643072 rs781035546 |
351 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212834480 rs371376256 |
352 | D>N | No |
ClinGen Ensembl |
|
| TCGA novel | 352 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5643073 rs750223927 |
353 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558253756 CA212834496 |
354 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs780038218 CA5643075 |
355 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs749193170 CA5643076 |
356 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1313391525 CA378106160 |
358 | W>* | No |
ClinGen gnomAD |
|
|
CA5643078 rs768730413 |
359 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs768730413 CA5643077 |
359 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA378106163 rs1359243326 |
359 | I>V | No |
ClinGen gnomAD |
|
|
rs772260311 CA5643080 |
360 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643079 rs748262653 |
360 | G>R | No |
ClinGen ExAC |
|
|
rs773481078 CA5643081 |
362 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs746247549 CA212834523 |
363 | C>R | No |
ClinGen gnomAD |
|
|
rs1564675319 CA378106187 RCV000732718 |
363 | C>Y | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1181918780 CA378106221 |
368 | F>C | No |
ClinGen gnomAD |
|
|
rs771202302 CA5643083 |
368 | F>L | No |
ClinGen ExAC gnomAD |
|
|
RCV000728861 rs144390464 CA212834549 |
370 | A>V | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
rs1460076327 CA378106237 |
371 | A>S | No |
ClinGen TOPMed |
|
|
rs773968282 CA5643087 |
372 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA378106243 rs1425979380 |
372 | L>V | No |
ClinGen TOPMed |
|
| TCGA novel | 373 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761462953 CA5643088 |
373 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs1336436144 CA378106248 |
373 | I>V | No |
ClinGen gnomAD |
|
|
CA5643089 rs767269895 |
374 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5643090 rs750170304 |
377 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 378 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1365428996 CA378106295 |
380 | C>S | No |
ClinGen gnomAD |
|
|
rs766106628 CA5643092 |
380 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212834589 rs978497992 |
381 | Y>H | No |
ClinGen TOPMed |
|
|
rs753767218 CA5643093 |
383 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA5643094 rs199742191 |
387 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778867248 CA5643095 |
389 | G>C | No |
ClinGen ExAC gnomAD |
|
|
CA5643096 rs775871205 |
389 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1465495557 CA378106392 |
390 | V>I | No |
ClinGen gnomAD |
|
|
CA5643097 rs551601287 |
391 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs777902199 CA5643099 |
393 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs918383893 CA212834646 |
394 | T>I | No |
ClinGen gnomAD |
|
|
rs918383893 CA378106427 |
394 | T>K | No |
ClinGen gnomAD |
|
|
rs746285388 CA5643102 |
394 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000283003 CA10603961 rs886042227 |
395 | A>T | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA378106438 rs1590150728 |
396 | I>V | No |
ClinGen Ensembl |
|
|
CA378106463 rs1305598262 |
398 | A>D | No |
ClinGen TOPMed |
|
|
CA378106461 rs770182474 |
398 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770182474 CA5643103 |
398 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378106460 rs770182474 |
398 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 398 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1175054156 CA378106476 |
399 | S>F | No |
ClinGen gnomAD |
|
| TCGA novel | 399 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1454989967 CA378106487 |
400 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1454989967 CA378106486 |
400 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA378106499 rs1381997807 |
401 | Y>* | No |
ClinGen gnomAD |
|
|
CA5643104 rs764229326 |
401 | Y>* | No |
ClinGen ExAC |
|
|
CA5643105 rs776201427 |
401 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1366739607 CA378106490 |
401 | Y>H | No |
ClinGen TOPMed |
|
|
rs1302670446 CA378106511 |
402 | K>N | No |
ClinGen gnomAD |
|
|
CA5643124 rs749829232 |
404 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA5643123 rs749829232 |
404 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA378106876 rs1406857640 |
404 | A>V | No |
ClinGen gnomAD |
|
|
CA5643125 rs772814626 |
405 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA5643126 rs146464095 |
406 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs146464095 CA378106887 |
406 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA212835919 rs146464095 |
406 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1161639791 CA378106907 |
410 | L>M | No |
ClinGen TOPMed |
|
|
CA5643129 rs759186995 |
411 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643130 rs765027508 |
412 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA5643131 rs752580497 |
414 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 415 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762211499 CA212835928 |
418 | G>A | No |
ClinGen Ensembl |
|
|
CA378106976 rs1564676967 |
420 | T>I | No |
ClinGen Ensembl |
|
|
rs1244971882 CA378106981 |
421 | V>A | No |
ClinGen gnomAD |
|
|
rs1564676980 CA378106977 RCV000729267 |
421 | V>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA378107001 rs1237568661 |
424 | M>I | No |
ClinGen TOPMed |
|
|
CA212835931 rs951539092 |
424 | M>R | No |
ClinGen TOPMed |
|
|
rs137854867 CA212835934 |
425 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 425 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757419591 CA5643135 |
426 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1208873596 RCV000730335 |
431 | L>missing | No |
ClinVar dbSNP |
|
|
rs780593937 CA5643139 |
432 | M>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756491798 CA5643138 |
432 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 433 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1185113389 CA378107123 |
435 | T>N | No |
ClinGen gnomAD |
|
|
CA378107138 rs1208904735 |
436 | N>S | No |
ClinGen TOPMed |
|
|
rs749708368 CA5643140 |
437 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1016499468 CA212835962 |
437 | F>L | No |
ClinGen Ensembl |
|
|
rs963574514 CA378107160 |
438 | M>K | No |
ClinGen Ensembl |
|
|
rs963574514 CA212835966 |
438 | M>T | No |
ClinGen Ensembl |
|
|
rs368060678 CA5643142 |
439 | H>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378107190 rs1564677085 |
440 | M>I | No |
ClinGen Ensembl |
|
|
CA212835974 RCV000729554 rs996397410 |
440 | M>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs374787164 CA10606924 RCV000396189 |
441 | L>M | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5643146 rs759252777 |
442 | W>C | No |
ClinGen ExAC TOPMed |
|
|
rs536569226 CA5643144 |
442 | W>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs746612317 CA5643147 |
444 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378107253 rs1339023045 |
446 | L>R | No |
ClinGen gnomAD |
|
|
rs762785326 CA5643149 |
447 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs370095941 CA10606925 RCV000307388 |
448 | I>M | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs71488021 CA212835998 |
449 | V>G | No |
ClinGen Ensembl |
|
|
rs764007655 CA5643150 |
452 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212835999 rs751585113 |
453 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378107334 rs761736186 |
454 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA5643152 rs761736186 |
454 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA378107360 rs1204980658 |
456 | W>* | No |
ClinGen gnomAD |
|
|
CA5643154 rs750565571 |
457 | R>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750565571 CA378107369 |
457 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378107376 rs1460561406 |
458 | E>K | No |
ClinGen gnomAD |
|
|
CA5643155 rs756370972 |
458 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs755457692 CA5643158 |
464 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs867979691 CA212836043 |
465 | A>V | No |
ClinGen gnomAD |
|
|
rs1480829160 CA378107457 |
466 | G>D | No |
ClinGen gnomAD |
|
|
CA378107463 rs1178654747 |
467 | V>I | No |
ClinGen gnomAD |
|
|
CA5643160 rs140048023 |
469 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5643161 rs140048023 |
469 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1403676854 CA378107502 |
470 | M>I | No |
ClinGen gnomAD |
|
|
rs1564677201 RCV000732370 |
470 | M>LV | No |
ClinVar dbSNP |
|
|
CA5643163 rs745424334 |
471 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643162 rs780784861 |
471 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA5643165 rs775182704 |
472 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs377037872 CA5643166 |
472 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5643167 rs768506514 |
473 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1289129554 CA378107544 |
475 | P>Q | No |
ClinGen TOPMed |
|
|
rs1564677235 CA378107561 RCV000732797 |
477 | N>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs201399138 CA5643169 |
478 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760891652 CA5643172 |
479 | I>K | No |
ClinGen ExAC gnomAD |
|
|
CA212836091 rs947250555 |
480 | L>P | No |
ClinGen Ensembl |
|
|
rs766700788 CA5643173 |
480 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378107612 rs1436588965 |
482 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA378107679 rs1164700298 |
488 | Q>* | No |
ClinGen TOPMed |
|
|
rs1426298117 CA378107787 |
489 | V>F | No |
ClinGen gnomAD |
|
|
rs1590155069 CA378107790 |
489 | V>G | No |
ClinGen Ensembl |
|
|
rs764659536 CA5643197 |
491 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA378107840 rs752069285 |
492 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA5643198 rs752069285 |
492 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA378107926 rs1240421497 |
497 | K>E | No |
ClinGen gnomAD |
|
|
CA5643199 rs779734655 |
497 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643201 rs754633636 |
498 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA5643202 rs186620377 |
498 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5643203 rs747969402 |
500 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs1169428928 CA378108005 |
501 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5643205 rs777794497 |
502 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA378108019 rs771766210 |
502 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643204 rs771766210 |
502 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378108089 rs1392211638 |
506 | L>P | No |
ClinGen gnomAD |
|
|
rs1340548715 CA378108118 |
508 | G>V | No |
ClinGen Ensembl |
|
|
rs1196486463 CA378108123 |
509 | I>V | No |
ClinGen gnomAD |
|
|
rs1157562604 CA378108140 |
510 | K>E | No |
ClinGen TOPMed |
|
|
CA378108368 rs1462789225 |
513 | K>E | No |
ClinGen gnomAD |
|
|
rs376285753 CA5643221 |
515 | F>S | No |
ClinGen ESP ExAC |
|
|
rs1221061370 CA378108456 |
516 | A>S | No |
ClinGen TOPMed |
|
|
rs1590156999 CA378108518 |
518 | E>G | No |
ClinGen Ensembl |
|
|
CA5643222 rs758162018 |
518 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA378108557 rs1320320480 |
519 | P>L | No |
ClinGen TOPMed |
|
|
CA5643223 rs777739639 |
519 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA378108616 rs1195316790 |
522 | R>K | No |
ClinGen gnomAD |
|
|
CA378108624 rs1195316790 |
522 | R>T | No |
ClinGen gnomAD |
|
|
CA378108641 rs1371262907 |
523 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1477237225 CA378108659 |
524 | Q>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs145924141 CA5643224 |
525 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145924141 CA212837451 |
525 | V>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 526 | Q>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378108808 rs1215494791 |
528 | L>R | No |
ClinGen TOPMed |
|
|
rs138799687 CA5643225 RCV000732012 |
529 | R>W | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs745955948 CA5643227 |
532 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs775725511 CA5643229 |
535 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378109032 rs1325179526 |
536 | L>Q | No |
ClinGen gnomAD |
|
|
rs1564679059 CA378109046 RCV000728136 |
537 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs537368151 CA5643232 |
538 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs762219872 CA5643233 |
540 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA5643234 rs768003791 |
540 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA212837487 rs903690171 |
541 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs373710735 CA5643236 |
542 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764673856 CA5643237 |
542 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1329368312 CA378109171 |
543 | Q>K | No |
ClinGen TOPMed |
|
|
rs903973956 CA212837513 |
543 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA378109250 rs1479160110 |
546 | V>L | No |
ClinGen gnomAD |
|
|
rs758091787 CA5643239 |
548 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1481479853 CA378109310 |
548 | F>S | No |
ClinGen TOPMed |
|
|
CA5643240 rs763886522 |
549 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000597526 rs1554849397 CA378109366 |
551 | Q>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5643243 rs781211523 |
554 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA378110719 rs1357131909 |
557 | V>I | No |
ClinGen gnomAD |
|
|
rs757063217 CA5643259 |
558 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA378110777 rs916426669 |
560 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA212840430 rs916426669 |
560 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
VAR_029116 rs17216233 CA212840432 |
562 | F>L | No |
ClinGen UniProt TOPMed dbSNP |
|
|
CA212840434 rs924489412 |
565 | Y>S | No |
ClinGen TOPMed |
|
|
CA5643263 rs780092108 |
568 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1449474182 CA378110952 |
569 | D>H | No |
ClinGen TOPMed |
|
|
CA5643264 rs545186194 |
571 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA378111085 rs1369397291 |
575 | D>Y | No |
ClinGen gnomAD |
|
|
CA378111108 rs1164189710 |
576 | A>E | No |
ClinGen gnomAD |
|
|
rs1463583503 CA378111242 |
581 | T>I | No |
ClinGen gnomAD |
|
|
RCV000730201 rs1564679568 CA378111283 |
584 | T>N | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA378111315 rs1316845594 |
586 | F>L | No |
ClinGen gnomAD |
|
|
rs748389017 CA5643267 |
586 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs773416711 CA5643269 |
587 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 588 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1590157887 CA378111412 |
589 | L>P | No |
ClinGen Ensembl |
|
|
CA212840522 rs747449108 |
590 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs751940502 RCV000734853 CA5643271 |
590 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5643270 rs747449108 |
590 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354505426 CA378111462 |
592 | P>S | No |
ClinGen Ensembl |
|
|
rs777261910 CA5643272 |
594 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762486508 CA5643274 |
595 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs774098809 CA5643275 |
595 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs370432154 CA5643276 |
596 | L>P | No |
ClinGen ESP ExAC gnomAD |
|
|
CA378111585 rs1472006497 RCV000729170 |
598 | M>V | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA212840556 rs1048609880 |
599 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5643277 rs767242200 |
601 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs750165659 CA5643278 |
602 | S>F | No |
ClinGen ExAC |
|
|
rs1168560333 CA378111723 |
603 | M>V | No |
ClinGen gnomAD |
|
|
CA5643279 rs760580627 |
604 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA5643280 rs766157931 CA378111806 |
605 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1343785070 CA378112129 |
609 | S>F | No |
ClinGen gnomAD |
|
|
RCV000591495 CA5643303 rs376124211 |
612 | R>Q | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs777791701 CA378112192 |
612 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1371086437 CA378112202 |
613 | L>I | No |
ClinGen TOPMed |
|
|
CA5643305 rs781715954 |
614 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643304 rs757517025 |
614 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs148300008 TCGA novel CA5643308 |
615 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
NCI-TCGA ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs747660621 CA378112269 |
616 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs747660621 CA5643309 |
616 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
rs771619987 CA378112325 |
619 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563518350 CA5643313 |
620 | D>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs772687313 CA5643312 |
620 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378112344 rs772687313 |
620 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643315 rs776386715 |
624 | T>K | No |
ClinGen ExAC gnomAD |
|
|
RCV000730427 rs765154081 CA5643317 |
626 | A>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA378112470 rs765154081 |
626 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564680657 CA378112481 |
627 | I>V | No |
ClinGen Ensembl |
|
|
rs775410341 CA5643318 |
628 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5643319 rs762884509 |
628 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1183098222 CA378112514 |
629 | H>P | No |
ClinGen TOPMed |
|
|
RCV000729671 rs1257076487 CA378112565 |
631 | C>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA378112586 rs1379667312 |
632 | N>S | No |
ClinGen gnomAD |
|
|
CA212842550 rs758986395 |
634 | D>E | No |
ClinGen Ensembl |
|
|
CA378112807 rs1308937371 |
634 | D>G | No |
ClinGen gnomAD |
|
|
CA378112850 rs1363681528 |
636 | A>G | No |
ClinGen TOPMed |
|
|
rs1384191165 CA378112841 |
636 | A>P | No |
ClinGen gnomAD |
|
|
rs763980664 CA5643338 |
637 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378112874 rs1282936966 |
638 | Q>K | No |
ClinGen gnomAD |
|
|
rs774470450 CA5643339 |
638 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA212842553 rs886664486 |
641 | E>K | No |
ClinGen Ensembl |
|
|
rs761858863 CA5643340 |
642 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA5643341 rs767851195 |
645 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1590161016 CA378113004 |
645 | T>P | No |
ClinGen Ensembl |
|
|
CA378113009 rs767851195 |
645 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA5643343 rs750683352 |
647 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750683352 CA5643342 |
647 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766877794 CA5643344 |
648 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA212842591 rs965012036 |
648 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA378113071 rs1185417308 |
649 | D>Y | No |
ClinGen gnomAD |
|
|
CA5643346 rs755485165 |
650 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5643348 rs746522689 |
651 | E>K | No |
ClinGen ExAC |
|
|
CA378113166 rs1590161098 |
654 | V>G | No |
ClinGen Ensembl |
|
|
rs1421064825 CA378113155 |
654 | V>I | No |
ClinGen gnomAD |
|
|
rs780765144 CA5643350 |
655 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780765144 CA378113169 |
655 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 655 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5643351 RCV000733559 rs200976632 |
655 | R>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA378113176 rs1310549311 |
656 | D>Y | No |
ClinGen gnomAD |
|
|
rs780712119 CA5643366 |
657 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA378113869 rs1590162397 |
658 | N>S | No |
ClinGen Ensembl |
|
| TCGA novel | 660 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5643367 rs749965212 |
660 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA378113912 rs1564682199 RCV000733622 |
661 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1399445935 CA378113960 |
663 | A>V | No |
ClinGen gnomAD |
|
|
CA378113963 rs1284223849 |
664 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1255132696 CA378113988 |
665 | Q>P | No |
ClinGen gnomAD |
|
|
CA5643369 rs779584212 |
666 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA378114006 rs779584212 |
666 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1253744822 CA378114038 |
668 | A>V | No |
ClinGen TOPMed |
|
|
CA378114120 rs1269056301 |
674 | G>D | No |
ClinGen gnomAD |
|
|
CA378114124 rs1269056301 |
674 | G>V | No |
ClinGen gnomAD |
|
|
rs772170301 CA5643375 |
675 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs748140863 CA5643374 |
675 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA212843344 rs1055485523 |
676 | G>E | No |
ClinGen TOPMed |
|
|
CA378114134 rs1226153645 |
676 | G>R | No |
ClinGen TOPMed |
|
|
CA5643377 rs760853099 |
679 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs773379718 CA5643376 |
679 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1161017545 CA378114209 |
680 | L>F | No |
ClinGen gnomAD |
|
|
CA378114298 RCV000598148 rs1359163275 |
686 | G>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs771119171 CA5643378 |
689 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5643382 CA5643381 RCV000734633 rs765570396 |
693 | G>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs763409433 CA5643383 |
695 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs751742010 CA212843366 |
696 | T>A | No |
ClinGen Ensembl |
|
|
CA378114532 rs1336166879 |
697 | I>V | No |
ClinGen gnomAD |
|
|
CA378116317 rs765852873 |
700 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5643404 rs765852873 |
700 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA212847236 rs1008888195 |
703 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs753424054 CA5643405 |
704 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1236673016 CA378116378 |
705 | P>S | No |
ClinGen gnomAD |
|
|
rs754542501 CA5643406 |
708 | S>F | No |
ClinGen ExAC gnomAD |
|
|
RCV000391369 rs764958537 CA5643407 |
709 | W>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA378116442 rs1274428587 |
709 | W>S | No |
ClinGen gnomAD |
|
|
CA378116457 rs1479069812 |
710 | I>S | No |
ClinGen TOPMed |
|
|
rs1269731805 CA378116499 |
713 | G>V | No |
ClinGen TOPMed |
|
|
CA378116537 rs1416560742 |
716 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV000732635 rs1198723210 |
717 | D>missing | No |
ClinVar dbSNP |
|
|
RCV000594211 CA378116549 rs1554851498 |
717 | D>E | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5643408 rs3740072 |
718 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs989618589 CA212847342 |
720 | L>V | No |
ClinGen Ensembl |
|
|
CA212847345 rs529582986 |
722 | G>V | No |
ClinGen Ensembl |
|
|
CA378116626 rs1019638803 |
723 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA212847351 rs1019638803 |
723 | T>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1221466902 CA378116631 |
724 | E>Q | No |
ClinGen TOPMed |
|
|
rs1324840191 CA378116663 |
726 | N>D | No |
ClinGen TOPMed |
|
|
CA378116685 rs1448440047 |
727 | E>A | No |
ClinGen gnomAD |
|
|
rs746992289 CA5643411 |
727 | E>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 728 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5643412 rs757329469 |
731 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA5643413 rs781091313 |
732 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA5643414 rs745982246 RCV000729786 |
734 | L>P | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs146129125 CA5643415 |
737 | C>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378116817 rs1216480403 |
737 | C>S | No |
ClinGen gnomAD |
|
|
rs1216480403 CA378116813 |
737 | C>Y | No |
ClinGen gnomAD |
|
|
CA5643416 rs775692370 |
738 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 738 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1317740127 CA378116839 |
739 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1317740127 CA378116837 |
739 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA378116850 rs1245496080 |
740 | L>H | No |
ClinGen gnomAD |
|
|
CA378116858 rs1211198371 |
741 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5643417 rs749646638 |
742 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA378116907 rs1482521823 |
745 | M>L | No |
ClinGen gnomAD |
|
|
CA5643419 rs774814801 |
747 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1423154075 CA378116955 |
748 | G>A | No |
ClinGen gnomAD |
|
|
rs762263251 CA5643421 |
748 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA212847459 rs140110854 |
750 | D>E | No |
ClinGen ESP TOPMed |
|
|
CA378116976 rs1590170176 |
750 | D>G | No |
ClinGen Ensembl |
|
|
rs200511859 CA5643422 |
750 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200511859 CA378116970 |
750 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378116989 rs1590170184 RCV000840180 |
751 | L>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 752 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5643423 rs775949172 |
752 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564687941 RCV000728135 |
754 | I>missing | No |
ClinVar dbSNP |
|
|
rs759092730 CA5643424 |
754 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643425 rs764979636 |
757 | K>Q | No |
ClinGen ExAC |
|
|
CA5643426 rs202105946 |
757 | K>T | No |
ClinGen 1000Genomes ExAC |
|
|
CA5643441 rs748562479 |
759 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5643440 rs779203197 |
759 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643442 rs149694648 |
760 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA212848383 rs200331549 |
763 | G>E | No |
ClinGen gnomAD |
|
|
rs898185740 CA212848384 |
764 | G>C | No |
ClinGen TOPMed |
|
|
rs898185740 CA378117588 |
764 | G>S | No |
ClinGen TOPMed |
|
|
CA378117623 rs1245171929 |
767 | Q>E | No |
ClinGen gnomAD |
|
|
CA212848411 rs56199535 |
768 | R>G | Dubin-johnson syndrome (djs) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
rs536840524 RCV000730752 CA378117637 |
768 | R>P | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
RCV000730645 rs762655590 CA5643447 |
769 | I>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP |
|
|
CA5643448 rs763861644 |
770 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA378117669 rs1564688575 |
772 | A>T | No |
ClinGen Ensembl |
|
|
rs1157957721 CA378117683 |
773 | R>K | No |
ClinGen gnomAD |
|
|
CA5643449 rs751253980 |
774 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 774 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000593455 rs1554851699 |
775 | T>missing | No |
ClinVar dbSNP |
|
|
rs1564688595 RCV000728931 |
776 | Y>missing | No |
ClinVar dbSNP |
|
|
CA5643451 rs767350747 |
778 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000730200 rs1564688620 CA378117758 |
781 | I>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs750430644 CA5643453 |
781 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA378117753 rs1332386619 |
781 | I>V | No |
ClinGen gnomAD |
|
|
rs1279487647 CA378117764 |
782 | Y>* | No |
ClinGen gnomAD |
|
|
CA5643454 rs201387148 |
782 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378117766 rs1288159560 |
783 | L>I | No |
ClinGen gnomAD |
|
|
CA5643455 rs780144697 |
786 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs367752350 CA5643456 |
786 | D>E | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1185752165 CA378117785 |
786 | D>N | No |
ClinGen TOPMed |
|
|
CA378117793 rs1314314509 |
787 | P>S | No |
ClinGen Ensembl |
|
|
rs190598794 CA5643459 |
788 | L>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA212848481 rs56220353 |
789 | S>C | Dubin-johnson syndrome (djs) [Ensembl] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
CA5643462 rs778121666 |
790 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA378117810 rs1239835776 |
790 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 791 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378117827 rs1181046957 |
792 | D>N | No |
ClinGen gnomAD |
|
|
rs747591710 CA378117846 |
793 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643463 rs747591710 |
793 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775090587 CA5643465 |
794 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs201303732 CA5643464 |
794 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643466 rs368007210 |
796 | G>E | No |
ClinGen ESP ExAC gnomAD |
|
|
CA378117870 rs1412628623 |
796 | G>R | No |
ClinGen gnomAD |
|
|
rs768355812 CA5643467 |
798 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs148835620 CA5643469 RCV000591756 |
803 | V>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA212848507 rs758532984 |
803 | V>I | No |
ClinGen Ensembl |
|
|
CA378117985 rs1341546325 |
805 | G>V | No |
ClinGen gnomAD |
|
|
CA5643471 rs113300169 |
807 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA212848554 rs113300169 |
807 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5643472 rs750292336 |
808 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000596798 rs765580991 |
809 | L>missing | No |
ClinVar dbSNP |
|
|
rs1334232476 CA378118046 |
812 | G>D | No |
ClinGen gnomAD |
|
|
CA378118053 rs1394413069 |
813 | K>E | No |
ClinGen TOPMed |
|
|
CA212848708 rs889701210 |
814 | T>N | No |
ClinGen Ensembl |
|
|
CA378118100 rs1305169133 |
814 | T>P | No |
ClinGen TOPMed |
|
|
CA378118129 rs1390500644 |
817 | L>W | No |
ClinGen TOPMed |
|
|
CA5643490 rs747872854 |
818 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643491 rs771649861 |
819 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1195157133 CA378118148 |
819 | T>K | No |
ClinGen gnomAD |
|
|
CA378118159 rs1260635876 |
820 | H>R | No |
ClinGen gnomAD |
|
|
rs142298707 CA5643493 |
821 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200405170 CA5643494 |
822 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378118200 rs1467870313 |
823 | H>Q | No |
ClinGen gnomAD |
|
|
CA595642443 rs1172367072 |
824 | F>CRQGVI* | No |
ClinGen gnomAD |
|
|
CA212848725 rs867615681 |
824 | F>L | No |
ClinGen gnomAD |
|
|
rs1375321156 CA378118207 |
824 | F>S | No |
ClinGen gnomAD |
|
|
rs776609852 CA5643495 |
826 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643496 rs759592910 |
827 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA5643497 rs765400464 |
827 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5643498 rs752751273 |
828 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378118260 rs1302243850 |
829 | D>V | No |
ClinGen gnomAD |
|
|
rs764234864 CA5643500 |
831 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643499 rs758598539 |
831 | I>V | No |
ClinGen ExAC |
|
|
rs146086483 CA212848756 |
833 | V>I | No |
ClinGen ESP TOPMed |
|
|
CA5643502 RCV000597720 rs369677401 |
835 | G>E | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs369677401 CA378118359 |
835 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378118347 rs1302612720 |
835 | G>W | No |
ClinGen gnomAD |
|
|
CA5643503 rs781760876 |
836 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs746423753 CA5643504 |
837 | G>* | No |
ClinGen ExAC gnomAD |
|
|
rs1590171789 CA378118384 |
838 | T>A | No |
ClinGen Ensembl |
|
|
CA378118395 rs1485254334 |
838 | T>I | No |
ClinGen gnomAD |
|
|
rs576352719 CA5643505 |
840 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747631201 CA5643507 |
841 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1004266017 CA212848859 |
843 | G>* | No |
ClinGen TOPMed |
|
|
rs771693127 CA5643508 |
844 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1564688998 CA378118491 |
844 | S>T | No |
ClinGen Ensembl |
|
|
CA5643509 rs772811862 |
845 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA378118542 rs1224373823 |
847 | A>T | No |
ClinGen TOPMed |
|
| TCGA novel | 850 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150231534 CA5643512 |
851 | K>N | No |
ClinGen ESP ExAC |
|
|
rs938934195 CA212848867 |
851 | K>R | No |
ClinGen Ensembl |
|
|
rs1362202519 CA378118625 |
852 | K>E | No |
ClinGen gnomAD |
|
|
CA212848870 rs993509972 |
853 | G>E | No |
ClinGen Ensembl |
|
| rs1393497113 | 853 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1482820345 CA378118641 |
853 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA378118670 rs996642196 CA212848876 |
854 | E>D | No |
ClinGen TOPMed |
|
|
CA378118684 rs1331234900 |
855 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 856 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 856 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759431258 CA5643513 |
858 | N>T | No |
ClinGen ExAC gnomAD |
|
|
rs1590171907 CA378118768 |
859 | L>P | No |
ClinGen Ensembl |
|
|
CA5643514 rs765109547 |
860 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs775582637 CA5643515 |
860 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs762946078 CA5643516 |
861 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs762946078 CA378118794 |
861 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA5643518 rs764373164 |
862 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643517 rs764373164 |
862 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176447262 CA378118832 |
864 | R>K | No |
ClinGen TOPMed |
|
|
rs768031038 CA5643520 |
865 | H>L | No |
ClinGen ExAC gnomAD |
|
|
CA5643521 rs750846958 |
868 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378118910 rs1375569778 |
869 | E>K | No |
ClinGen TOPMed |
|
|
rs1244818212 CA378118921 |
870 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 872 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5643525 rs547147518 |
874 | V>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA378120314 rs1258429983 |
875 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs761016258 CA5643541 |
876 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs770251199 CA212857637 |
877 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA5643543 rs770251199 |
877 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA378120352 rs1467019111 |
878 | S>T | No |
ClinGen gnomAD |
|
| TCGA novel | 880 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1224922647 CA378120388 |
880 | E>K | No |
ClinGen gnomAD |
|
|
CA5643546 rs777225633 |
881 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643545 RCV000286258 rs757896583 |
881 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA378120430 rs751093497 |
882 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1278470889 CA378120444 |
883 | D>G | No |
ClinGen gnomAD |
|
|
rs911797034 CA378120434 |
883 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA212857654 rs911797034 |
883 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs911797034 CA378120436 |
883 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1307273670 CA378120543 |
889 | S>P | No |
ClinGen gnomAD |
|
|
CA5643551 rs745670308 |
890 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643550 rs745670308 |
890 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378120560 rs745670308 |
890 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs3740071 CA5643552 |
893 | E>K | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs3740071 CA5643553 |
893 | E>Q | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs1181321563 CA378120618 |
894 | I>L | No |
ClinGen gnomAD |
|
|
rs1590181366 CA378120623 |
894 | I>T | No |
ClinGen Ensembl |
|
|
CA5643555 rs377107178 RCV000593294 |
896 | E>K | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs748247326 CA5643556 |
898 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA378120706 rs1564694665 |
898 | A>V | No |
ClinGen Ensembl |
|
|
rs1478891387 CA378120742 |
900 | S>F | No |
ClinGen gnomAD |
|
|
CA212857691 rs1030505812 |
900 | S>P | No |
ClinGen Ensembl |
|
|
CA5643557 rs370265181 |
902 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 902 | T>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378120807 rs1433524409 |
905 | R>G | No |
ClinGen gnomAD |
|
|
rs201874841 CA5643558 |
905 | R>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201874841 CA5643559 RCV000596161 |
905 | R>K | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5643560 RCV000363336 rs766697550 |
905 | R>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs574891402 CA5643562 |
908 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765749316 CA5643563 |
910 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000729644 rs149359610 CA5643564 |
910 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs149359610 CA378120916 |
910 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756825916 CA5643565 |
911 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA378120919 rs756825916 |
911 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378120932 rs767142650 |
911 | R>P | No |
ClinGen ExAC gnomAD |
|
|
RCV000593589 rs767142650 CA5643566 |
911 | R>Q | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5643567 rs750091935 |
912 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1346257988 CA378120946 |
913 | L>V | No |
ClinGen gnomAD |
|
|
rs779670568 CA5643569 |
915 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs112758556 CA378120998 |
915 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138187790 CA5643571 |
916 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs929261014 CA212857753 |
916 | S>N | No |
ClinGen TOPMed |
|
|
CA5643599 rs770191836 |
918 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746216620 CA5643598 RCV000594276 |
918 | R>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5643601 rs200512939 |
920 | N>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA5643604 rs760235008 |
923 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378121142 rs1275028609 |
927 | L>P | No |
ClinGen gnomAD |
|
|
CA5643607 rs759376697 |
928 | R>K | No |
ClinGen ExAC |
|
|
CA378121157 rs1314507271 |
929 | N>K | No |
ClinGen TOPMed |
|
|
rs765088337 CA5643608 RCV000731038 |
930 | S>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA378121167 rs1475884280 |
931 | L>S | No |
ClinGen gnomAD |
|
|
CA5643609 rs752566519 |
933 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643612 rs200477714 |
934 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000729655 CA5643611 rs777771609 |
934 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA378121193 rs757417376 |
935 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 935 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1408777592 CA378121195 |
936 | V>M | No |
ClinGen gnomAD |
|
|
CA378121236 rs1249870132 |
942 | D>N | No |
ClinGen TOPMed |
|
|
CA212858033 rs574920702 |
943 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5643616 rs574920702 |
943 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
| TCGA novel | 944 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA212858035 rs535593521 |
946 | V>L | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
rs780347910 CA5643617 |
948 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1564695030 CA378121281 |
949 | Q>* | No |
ClinGen Ensembl |
|
|
rs1554853026 RCV000591396 |
952 | I>missing | No |
ClinVar dbSNP |
|
|
CA5643620 rs768974139 |
955 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA378121360 rs1279228110 |
959 | T>I | No |
ClinGen gnomAD |
|
|
CA378121364 rs1237459906 |
960 | G>E | No |
ClinGen TOPMed |
|
|
CA378121368 rs1486374710 |
961 | K>E | No |
ClinGen gnomAD |
|
|
rs774987234 CA5643621 |
961 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1156487493 CA378121395 |
963 | K>M | No |
ClinGen TOPMed |
|
|
rs17222547 CA201872 RCV000176262 |
967 | Y>* | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 967 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs372803066 CA212858410 |
970 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA TOPMed gnomAD |
|
rs776226153 CA5643642 |
972 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs776226153 CA5643643 |
972 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs776226153 CA378121452 |
972 | Q>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 973 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs184055071 CA5643646 |
974 | I>M | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775342469 CA378121467 |
974 | I>R | No |
ClinGen ExAC gnomAD |
|
|
CA5643645 rs775342469 |
974 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs769566042 CA5643644 |
974 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763988128 CA5643647 |
978 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5643649 rs761760214 |
979 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA5643650 rs767455559 RCV000733896 |
981 | F>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs17222554 CA212858465 |
982 | I>L | Dubin-johnson syndrome (djs) [Ensembl] | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs1438672389 CA378121537 |
985 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754135552 CA5643654 |
986 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs779290395 CA5643656 |
988 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1254067008 CA378121572 |
991 | V>M | No |
ClinGen gnomAD |
|
|
CA378121578 rs1470104905 |
992 | A>T | No |
ClinGen gnomAD |
|
|
rs1051582892 CA212858514 |
997 | N>D | No |
ClinGen Ensembl |
|
|
rs1252857540 CA378121626 |
998 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1362303690 CA378121666 |
1001 | S>I | No |
ClinGen gnomAD |
|
|
CA378121678 rs1435255916 |
1002 | A>D | No |
ClinGen TOPMed |
|
|
RCV000731138 CA378121697 rs1564695476 |
1003 | W>C | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5643663 RCV000734740 rs775253982 |
1004 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs775253982 CA5643664 |
1004 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378121721 rs1406766646 |
1005 | S>R | No |
ClinGen TOPMed |
|
|
rs768215744 CA5643665 |
1005 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1162480061 CA378121758 |
1008 | K>R | No |
ClinGen TOPMed |
|
|
CA201870 rs57351269 RCV002261000 RCV000176261 |
1009 | I>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1334632932 CA378121787 |
1011 | N>D | No |
ClinGen gnomAD |
|
|
CA212858560 rs576340107 |
1012 | S>I | No |
ClinGen 1000Genomes |
|
|
CA5643668 rs773188597 |
1014 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA378121925 rs1564695545 |
1020 | R>W | No |
ClinGen Ensembl |
|
|
rs753889614 CA5643673 |
1021 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs753889614 CA5643672 |
1021 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5643674 rs147849654 |
1022 | M>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA212858581 rs147849654 |
1022 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378121952 rs1590182568 |
1022 | M>V | No |
ClinGen Ensembl |
|
|
rs1418569480 CA378121965 |
1023 | R>G | No |
ClinGen gnomAD |
|
|
CA378121971 rs374311166 |
1023 | R>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378121977 rs1290821942 |
1024 | V>F | No |
ClinGen TOPMed |
|
|
rs1420214351 CA378121994 |
1025 | G>E | No |
ClinGen gnomAD |
|
|
rs778404603 CA5643678 |
1027 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs778404603 CA5643677 |
1027 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA378122027 rs148887680 |
1028 | G>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148887680 RCV000594399 CA5643680 |
1028 | G>R | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1277140353 CA378122042 |
1029 | A>V | No |
ClinGen TOPMed |
|
|
rs1035077853 CA212858660 |
1031 | G>A | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1033 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1461522153 CA378122143 |
1035 | G>D | No |
ClinGen gnomAD |
|
|
rs45441199 CA5643698 |
1036 | I>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378122156 rs1172029710 |
1036 | I>M | No |
ClinGen TOPMed |
|
|
CA5643700 rs754501570 |
1040 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778602659 CA5643701 |
1042 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242859798 CA378122227 |
1043 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA378122248 rs1184519015 |
1044 | W>L | No |
ClinGen gnomAD |
|
|
CA5643702 rs747836600 |
1046 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212858875 rs907087501 |
1049 | F>S | No |
ClinGen TOPMed |
|
|
rs199961748 CA5643705 |
1050 | V>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs777490403 CA5643704 |
1050 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770854510 CA5643706 |
1051 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA212858894 rs894292458 |
1051 | H>Y | No |
ClinGen TOPMed |
|
|
CA378122325 rs776490975 |
1052 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA378122318 rs1159392272 |
1052 | A>T | No |
ClinGen gnomAD |
|
|
rs776490975 CA5643707 |
1052 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA212858904 rs1012313021 |
1054 | N>S | No |
ClinGen TOPMed |
|
|
rs1370924906 CA378122359 |
1055 | I>T | No |
ClinGen TOPMed |
|
|
CA378122353 rs1433361198 |
1055 | I>V | No |
ClinGen gnomAD |
|
|
rs375785245 CA5643709 |
1056 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1442375990 CA378122386 |
1057 | H>Q | No |
ClinGen gnomAD |
|
|
CA378122426 rs1285257857 |
1061 | L>R | No |
ClinGen gnomAD |
|
|
CA378122422 rs1218654562 |
1061 | L>V | No |
ClinGen gnomAD |
|
|
CA5643712 CA5643711 rs763216683 |
1062 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378122446 rs1247228877 |
1063 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs766399139 CA212858918 |
1064 | I>N | No |
ClinGen Ensembl |
|
|
CA378122451 rs1468745268 |
1064 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs768051811 CA5643715 |
1066 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768051811 CA5643714 |
1066 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212858931 rs754476800 |
1068 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA5643716 rs754476800 |
1068 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA378122498 rs1590182936 |
1069 | M>I | No |
ClinGen Ensembl |
|
|
rs764610655 CA5643717 |
1069 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378122491 rs764610655 |
1069 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643718 rs568424220 |
1070 | R>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
RCV000731586 rs771652807 |
1073 | D>* | No |
ClinVar dbSNP |
|
|
rs777325157 RCV000594004 |
1074 | T>missing | No |
ClinVar dbSNP |
|
|
CA378122725 rs1157915680 |
1076 | P>S | No |
ClinGen gnomAD |
|
|
rs746797136 CA5643723 |
1078 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5643722 rs777472412 |
1078 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA5643724 rs757051605 |
1079 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378122745 rs1375584028 |
1080 | I>V | No |
ClinGen gnomAD |
|
|
CA5643727 rs769794601 |
1082 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1082 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1215257427 CA378122774 |
1084 | F>C | No |
ClinGen gnomAD |
|
|
rs1184872587 CA378122968 |
1087 | D>G | No |
ClinGen TOPMed |
|
|
rs1186933294 CA378123005 |
1088 | I>S | No |
ClinGen TOPMed |
|
|
rs1186933294 CA378122998 |
1088 | I>T | No |
ClinGen TOPMed |
|
|
CA378123030 rs1242131862 |
1089 | S>F | No |
ClinGen TOPMed |
|
|
CA5643753 rs773384396 |
1091 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196374265 CA378123048 |
1091 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1036772767 CA212860523 |
1093 | D>N | No |
ClinGen TOPMed |
|
|
rs1435577224 CA378123119 |
1094 | T>N | No |
ClinGen gnomAD |
|
|
CA378123107 rs1590184513 |
1094 | T>P | No |
ClinGen Ensembl |
|
|
rs896855951 CA212860534 |
1096 | P>A | No |
ClinGen TOPMed |
|
|
CA5643755 rs766785942 |
1096 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1286577714 CA378123167 |
1097 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs145186820 RCV000594697 CA5643758 |
1100 | R>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5643757 rs142715085 |
1100 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378123261 rs751095276 |
1101 | S>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643759 rs751095276 |
1101 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643760 rs373130678 |
1102 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378123307 rs1378999451 |
1104 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5643761 rs767201064 |
1105 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs1408305774 CA378123385 |
1106 | F>L | No |
ClinGen gnomAD |
|
|
rs755990930 CA5643763 |
1108 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs780113530 CA5643764 |
1111 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA5643765 rs753865751 |
1111 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378123459 rs1564696764 |
1112 | T>A | No |
ClinGen Ensembl |
|
|
CA5643768 RCV000730408 rs779085460 |
1112 | T>N | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA378123477 rs772181323 |
1113 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772181323 CA5643770 |
1113 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866511724 CA212860629 |
1114 | V>A | No |
ClinGen gnomAD |
|
|
CA5643771 rs778116144 |
1114 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378123482 rs778116144 |
1114 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747314403 CA5643772 |
1115 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA378123559 rs1262731300 |
1116 | I>M | No |
ClinGen gnomAD |
|
|
rs904650728 CA212860681 |
1118 | M>I | No |
ClinGen Ensembl |
|
|
rs777014953 CA5643774 |
1118 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1242535819 CA378123617 |
1119 | A>S | No |
ClinGen TOPMed |
|
|
rs770302197 CA5643776 |
1121 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs1487303697 CA378123676 |
1122 | V>D | No |
ClinGen TOPMed |
|
|
CA5643777 rs773666110 |
1122 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA5643779 rs775953981 |
1124 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564696809 CA378123719 |
1124 | T>I | No |
ClinGen Ensembl |
|
|
CA378123740 rs760356661 |
1125 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1436600162 CA378123725 |
1125 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA5643783 rs149412446 |
1126 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763259031 RCV000734160 |
1126 | I>missing | No |
ClinVar dbSNP |
|
|
CA5643784 rs754902981 |
1127 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA212860788 rs754902981 |
1127 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs370049107 CA242400 RCV000176457 |
1127 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA378123802 rs1324439156 |
1128 | I>T | No |
ClinGen gnomAD |
|
|
CA378123852 rs1434370656 |
1130 | L>F | No |
ClinGen gnomAD |
|
|
CA5643785 rs779062798 |
1130 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA212860827 rs769179507 |
1134 | Y>H | No |
ClinGen Ensembl |
|
|
rs747218133 CA5643789 |
1136 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA5643790 rs771168840 |
1137 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 1140 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA212861969 rs993439234 |
1140 | F>S | No |
ClinGen Ensembl |
|
|
rs774778158 RCV000732039 |
1141 | Y>missing | No |
ClinVar dbSNP |
|
|
CA378124290 RCV000595615 rs375280444 CA212861997 |
1142 | V>L | No |
ClinGen ESP TOPMed gnomAD ClinVar dbSNP |
|
|
rs375280444 CA212861990 |
1142 | V>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA5643807 rs758302747 |
1143 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs758302747 CA378124299 |
1143 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1590185727 CA378124311 |
1144 | T>P | No |
ClinGen Ensembl |
|
|
rs1419734990 CA378124326 |
1145 | S>P | No |
ClinGen gnomAD |
|
|
rs377550597 RCV000259265 CA5643808 |
1146 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5643809 rs148551677 RCV000734499 |
1146 | R>H | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs148551677 CA378124344 |
1146 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1165316603 CA378124361 |
1147 | Q>H | No |
ClinGen gnomAD |
|
|
CA378124354 rs1472160100 |
1147 | Q>P | No |
ClinGen gnomAD |
|
|
rs757405951 CA5643811 |
1148 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs757405951 RCV000728465 CA5643810 |
1148 | L>V | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5643813 rs200009488 |
1150 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA378124408 rs769064396 |
1151 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1173266821 CA378124412 |
1151 | L>P | No |
ClinGen TOPMed |
|
|
CA212862077 rs964875560 |
1152 | D>A | No |
ClinGen Ensembl |
|
|
CA378124425 rs964875560 |
1152 | D>G | No |
ClinGen Ensembl |
|
|
CA378124416 rs1349447092 |
1152 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA378124437 rs1294334346 |
1153 | S>C | No |
ClinGen gnomAD |
|
|
RCV000596186 rs919078015 |
1155 | T>missing | No |
ClinVar dbSNP |
|
|
rs746520129 CA5643817 |
1155 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA5643819 rs140345019 |
1156 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378124476 rs1564697605 |
1157 | S>P | No |
ClinGen Ensembl |
|
|
rs762291612 RCV000728551 |
1158 | P>missing | No |
ClinVar dbSNP |
|
|
CA378124486 rs1466832597 |
1158 | P>S | No |
ClinGen TOPMed |
|
|
CA5643822 rs765042639 |
1159 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643821 rs759374777 |
1159 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775175641 CA5643823 |
1160 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378124513 rs1419843363 |
1161 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA5643825 rs374452437 |
1164 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1164003492 CA378124534 |
1164 | S>N | No |
ClinGen gnomAD |
|
|
rs374452437 CA5643824 |
1164 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767701081 CA5643828 |
1165 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA5643827 RCV000592076 rs199938496 |
1165 | E>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
RCV000728429 CA5643831 rs367739304 |
1167 | V>I | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs367739304 CA5643830 |
1167 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1333544687 RCV000598363 |
1168 | S>missing | No |
ClinVar dbSNP |
|
|
CA378124552 rs1590185865 |
1168 | S>P | No |
ClinGen Ensembl |
|
|
rs1054339070 CA212862152 |
1169 | G>S | No |
ClinGen gnomAD |
|
|
CA378124769 rs1381816763 |
1171 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs72558201 CA5643833 |
1173 | I>V | Dubin-johnson syndrome (djs) [Ensembl] | No |
ClinGen ExAC TOPMed gnomAD |
|
rs746497342 CA5643834 |
1174 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs746497342 CA378124796 |
1174 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000729712 CA378124813 rs1272618565 |
1175 | A>V | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs776311889 CA5643836 |
1176 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA212862175 rs948576355 |
1177 | E>K | No |
ClinGen gnomAD |
|
|
rs183923599 CA5643838 RCV000728865 |
1180 | Q>* | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA5643839 rs775292117 |
1180 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1045996985 CA212862206 |
1181 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA5643843 rs761847168 |
1182 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs145008610 CA5643844 RCV000330137 |
1183 | L>M | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1202156660 CA378124934 |
1183 | L>P | No |
ClinGen TOPMed |
|
|
rs201266053 CA5643846 |
1186 | N>D | No |
ClinGen 1000Genomes ExAC |
|
|
rs368005178 CA5643847 |
1186 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5643851 rs753216379 |
1189 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA378125058 rs1311777224 |
1191 | D>A | No |
ClinGen TOPMed |
|
|
CA5643852 rs758997455 |
1192 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA5643854 rs745380673 |
1193 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA5643855 RCV000731631 rs559137047 |
1194 | Q>* | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA5643856 rs779633376 |
1194 | Q>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378125113 rs1235065840 RCV000728525 |
1195 | K>E | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1416712581 CA378125137 |
1196 | C>F | No |
ClinGen TOPMed |
|
|
rs749084548 CA5643857 |
1196 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1209647362 CA378125153 |
1197 | V>A | No |
ClinGen gnomAD |
|
|
rs768373392 CA5643858 |
1197 | V>L | No |
ClinGen ExAC |
|
|
CA378125176 rs1486717728 |
1199 | S>T | No |
ClinGen gnomAD |
|
|
CA212862284 rs577353173 RCV000592247 |
1200 | W>* | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
TCGA novel rs772009281 CA5643861 |
1200 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
rs577353173 CA5643860 |
1200 | W>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372032261 CA5643862 |
1202 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760731724 CA5643863 |
1203 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1300010489 CA378125256 |
1204 | N>K | No |
ClinGen gnomAD |
|
|
rs1230011500 CA378126113 |
1208 | A>T | No |
ClinGen gnomAD |
|
|
rs754558286 CA5643894 |
1210 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs778603543 CA5643895 |
1210 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5643896 rs778603543 |
1210 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1244237465 CA378126146 |
1211 | L>P | No |
ClinGen TOPMed |
|
|
rs746872922 CA378126159 |
1212 | E>G | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 1212 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5643900 rs746872922 |
1212 | E>V | No |
ClinGen ExAC TOPMed |
|
|
rs1440176244 CA378126167 |
1213 | L>V | No |
ClinGen TOPMed |
|
|
CA5643902 rs200286512 |
1214 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA5643901 rs770914805 |
1214 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs1412212418 CA378126196 |
1216 | N>I | No |
ClinGen gnomAD |
|
|
rs1283644213 CA378126203 |
1217 | L>P | No |
ClinGen TOPMed |
|
|
CA5643906 rs775906590 |
1219 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212866238 CA5643907 rs763375000 |
1221 | F>L | No |
ClinGen ExAC |
|
|
CA5643909 rs774796983 |
1226 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs762165282 CA378126266 |
1227 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs762165282 CA5643910 |
1227 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA378126280 rs768072382 |
1229 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1564700056 CA378126279 |
1229 | Y>D | No |
ClinGen Ensembl |
|
|
CA5643911 rs768072382 |
1229 | Y>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1230 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV000302237 CA5643912 rs753282654 |
1230 | R>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA378126302 rs1355618741 |
1232 | T>I | No |
ClinGen gnomAD |
|
|
CA378126301 rs1355618741 |
1232 | T>N | No |
ClinGen gnomAD |
|
|
rs1276243449 CA378126305 |
1233 | L>V | No |
ClinGen gnomAD |
|
|
rs764846386 CA5643914 |
1238 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1240 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5643915 rs752308344 |
1241 | V>L | No |
ClinGen ExAC gnomAD |
|
|
CA378126362 rs1344153755 |
1242 | L>V | No |
ClinGen TOPMed |
|
|
CA5643916 rs758070780 |
1243 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs566053264 CA5643918 |
1244 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5643917 rs566053264 |
1244 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745923936 CA5643921 |
1246 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA5643922 rs770037260 |
1247 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378126405 rs1209235053 |
1248 | I>V | No |
ClinGen TOPMed |
|
|
CA5643936 rs780964183 |
1249 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA5643937 rs750342363 RCV000734929 |
1251 | T>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs756140095 CA5643938 |
1256 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA5643939 rs780221312 |
1257 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs368653746 CA212866891 |
1257 | R>K | No |
ClinGen ESP |
|
|
rs749380312 CA5643940 |
1257 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs748436835 CA5643943 |
1258 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5643941 rs768755574 |
1258 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643942 RCV000728895 rs768755574 |
1258 | M>V | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs773589868 CA5643945 |
1263 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1273816385 CA378126498 |
1263 | E>K | No |
ClinGen gnomAD |
|
|
CA5643947 rs771434703 |
1264 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA378126519 rs148292402 |
1266 | I>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5643949 rs557494144 |
1266 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000734342 rs148292402 CA5643948 |
1266 | I>V | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs187490316 CA5643950 |
1267 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5643951 rs751269660 |
1269 | V>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1270 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5643952 RCV000730799 rs761406918 |
1271 | R>* | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5643953 rs767290900 |
1271 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643955 rs554976086 |
1275 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1277 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378126645 rs1265009798 CA378126644 |
1284 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA378126654 rs1564701000 |
1285 | V>L | No |
ClinGen Ensembl |
|
|
CA378126672 rs766395282 |
1287 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1342942117 CA378126669 |
1287 | D>G | No |
ClinGen gnomAD |
|
|
CA595453530 rs1564701009 |
1288 | K>* | No |
ClinGen Ensembl |
|
|
CA212867147 CA5643978 rs371697049 |
1289 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1290 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
VAR_020233 RCV000956858 rs17216317 CA202131 RCV000176844 |
1291 | P>L | altered transporter activity [UniProt] | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs374880003 CA5643980 |
1292 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1590192057 CA378126708 |
1293 | D>E | No |
ClinGen Ensembl |
|
|
rs778029064 CA5643982 |
1298 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs4148400 CA212867157 |
1299 | K>Q | No |
ClinGen Ensembl |
|
| TCGA novel | 1303 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1390270032 CA378127232 |
1304 | N>K | No |
ClinGen gnomAD |
|
|
CA5643983 rs747354567 |
1305 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA378127270 rs1166362650 |
1306 | Q>H | No |
ClinGen gnomAD |
|
|
CA378127284 rs1369507770 |
1307 | V>A | No |
ClinGen gnomAD |
|
|
rs568415988 CA212867161 |
1307 | V>M | No |
ClinGen Ensembl |
|
|
rs147177143 CA5643984 |
1308 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5643985 rs147177143 |
1308 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1024856612 CA212867176 |
1308 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA212867202 rs972633238 |
1309 | Y>C | No |
ClinGen Ensembl |
|
|
CA5643988 rs66898362 |
1310 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs66898362 CA378127322 |
1310 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378127330 rs369846306 |
1310 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5643989 rs369846306 |
1310 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378127340 rs1230645938 |
1311 | P>S | No |
ClinGen gnomAD |
|
|
rs771834678 CA5643990 |
1314 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5643991 rs773046145 |
1315 | L>M | No |
ClinGen ExAC gnomAD |
|
|
rs1554854276 RCV000598185 CA378127433 |
1315 | L>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs760513620 CA5643992 |
1316 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212867234 rs760513620 |
1316 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1482121206 CA378127485 |
1319 | G>E | No |
ClinGen gnomAD |
|
|
CA378127480 rs1257611201 |
1319 | G>R | No |
ClinGen gnomAD |
|
|
CA212867237 rs962388011 |
1320 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
CA378127527 rs1248525752 |
1322 | C>G | No |
ClinGen TOPMed gnomAD |
|
|
rs3740066 CA5643993 |
1324 | I>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA378127571 rs1301456567 |
1324 | I>T | No |
ClinGen gnomAD |
|
|
rs1388985149 CA378127590 |
1326 | S>N | No |
ClinGen gnomAD |
|
|
rs1177779646 CA378127616 |
1327 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs765154671 CA5643995 |
1327 | M>K | No |
ClinGen ExAC gnomAD |
|
|
rs765154671 CA5643996 |
1327 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA378127634 rs1590192168 |
1328 | E>V | No |
ClinGen Ensembl |
|
|
CA5643997 rs763073550 |
1329 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA212868079 rs371358683 |
1330 | I>F | No |
ClinGen ESP TOPMed |
|
|
rs769749645 CA5644015 |
1331 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378127773 rs1295528038 |
1331 | G>D | No |
ClinGen gnomAD |
|
|
CA5644014 rs769749645 |
1331 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378127782 rs1158002593 |
1332 | V>A | No |
ClinGen gnomAD |
|
|
CA378127811 rs1354696575 |
1334 | G>D | No |
ClinGen TOPMed |
|
|
CA378127805 rs1365818501 |
1334 | G>S | No |
ClinGen gnomAD |
|
|
rs764114668 CA5644017 |
1335 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA378127865 rs1330938044 |
1337 | G>E | No |
ClinGen gnomAD |
|
|
rs1228822366 CA378127876 |
1338 | A>G | No |
ClinGen TOPMed |
|
|
rs751655956 CA5644018 |
1340 | K>R | No |
ClinGen ExAC TOPMed |
|
|
CA378127987 rs1226515536 |
1346 | C>Y | No |
ClinGen gnomAD |
|
|
rs767694433 CA5644020 RCV000734730 |
1347 | L>F | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs373121133 CA5644021 |
1347 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA378128027 rs1394845841 |
1348 | F>L | No |
ClinGen TOPMed |
|
|
RCV000735014 rs756482190 CA5644022 |
1349 | R>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5644023 rs780578539 |
1352 | E>K | No |
ClinGen ExAC |
|
|
CA5644024 rs754258307 |
1353 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378128118 rs1590192950 |
1354 | A>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1354 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5644026 rs189165453 |
1355 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs148393425 RCV000358934 CA5644027 |
1357 | Q>H | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs142700351 CA243027 RCV000176916 |
1359 | I>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs780758213 CA5644028 |
1360 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs780758213 CA378128219 RCV000734158 |
1360 | I>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 1361 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs571273081 CA5644029 |
1363 | V>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA378128279 rs571273081 |
1363 | V>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775382123 CA5644031 |
1365 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769438303 CA5644030 |
1365 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378128314 rs1213321394 |
1366 | A>V | No |
ClinGen TOPMed |
|
|
rs150575961 CA212868162 |
1368 | I>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs150575961 CA5644032 |
1368 | I>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1339365269 CA378128381 |
1371 | H>D | No |
ClinGen TOPMed |
|
|
CA212868179 rs878987633 |
1371 | H>L | No |
ClinGen Ensembl |
|
|
CA5644034 rs774406517 |
1372 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA378128427 rs1205442801 |
1373 | L>H | No |
ClinGen gnomAD |
|
|
CA5644035 rs761935489 |
1373 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs767754823 CA5644036 |
1374 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA5644037 rs773345306 |
1374 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1237056049 CA378128462 |
1375 | E>Q | No |
ClinGen TOPMed |
|
|
CA378128483 rs1180167902 |
1376 | K>M | No |
ClinGen gnomAD |
|
|
CA378128505 rs1473452859 |
1378 | T>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs766603723 CA5644039 |
1381 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754267460 CA5644040 |
1382 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs765809237 CA5644062 |
1383 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs753216780 CA5644063 |
1384 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA5644064 rs758969782 |
1385 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1183312226 CA378128900 |
1386 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
RCV000731290 TCGA novel rs1564702291 CA378128909 |
1387 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA378128917 rs1250043965 |
1387 | F>L | No |
ClinGen gnomAD |
|
|
rs1554854589 RCV000595039 CA378128912 |
1387 | F>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1445293097 CA378128933 |
1389 | G>E | No |
ClinGen gnomAD |
|
|
rs901195430 CA212869100 |
1389 | G>R | No |
ClinGen TOPMed |
|
|
CA5644066 rs749958396 |
1390 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1479117074 CA378128955 |
1392 | R>K | No |
ClinGen gnomAD |
|
|
rs749662916 RCV000593913 |
1392 | R>missing | No |
ClinVar dbSNP |
|
|
RCV000177443 rs779736415 CA5644069 CA243621 |
1393 | M>I | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA5644068 rs532277392 |
1393 | M>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5644070 rs754805706 |
1395 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs748027575 CA5644072 |
1396 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5644073 rs146587077 |
1397 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773099450 CA5644074 |
1399 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs958313191 CA212869223 |
1400 | N>K | No |
ClinGen TOPMed |
|
|
CA378129037 rs1332508590 |
1400 | N>S | No |
ClinGen gnomAD |
|
|
CA212869221 rs942275845 |
1400 | N>Y | No |
ClinGen Ensembl |
|
|
rs771036937 CA5644076 |
1402 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs759871708 CA5644078 |
1403 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs777034549 CA5644077 |
1403 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348670639 CA378129076 |
1404 | E>K | No |
ClinGen gnomAD |
|
|
CA5644080 rs770238320 |
1404 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA5644082 rs371641096 |
1406 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1197522109 CA378129104 |
1407 | W>S | No |
ClinGen gnomAD |
|
|
rs1554854612 RCV000595162 |
1414 | H>missing | No |
ClinVar dbSNP |
|
|
rs544311254 CA5644084 RCV000734170 |
1414 | H>Y | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
RCV000728932 CA378129162 rs1564702358 |
1416 | K>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1452936119 CA378129165 |
1416 | K>R | No |
ClinGen gnomAD |
|
|
CA5644086 rs749883731 |
1417 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA378129176 rs1392251452 |
1418 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs760277974 CA5644087 |
1421 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA5644088 rs765981124 |
1425 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA378129227 rs1290776704 |
1426 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
CA378129229 rs1290776704 |
1426 | L>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1428 | H>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754646220 CA5644091 |
1429 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs754646220 CA5644090 |
1429 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA378129256 rs1473389000 |
1430 | V>A | No |
ClinGen TOPMed |
|
|
CA378129276 rs1207384397 |
1433 | A>G | No |
ClinGen TOPMed |
|
|
rs376276952 CA5644093 |
1434 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376276952 CA378129281 |
1434 | G>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
RCV000732050 CA212871942 rs924936790 |
1439 | I>M | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5644112 rs751467736 |
1439 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1442 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5644114 rs145715632 |
1443 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs145715632 CA5644115 |
1443 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5644116 rs746015901 |
1446 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs770132111 CA5644117 |
1446 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA212871987 rs972986184 |
1448 | G>S | No |
ClinGen TOPMed |
|
|
rs1054963476 CA212871997 |
1449 | R>S | No |
ClinGen Ensembl |
|
|
rs56296335 CA212872006 |
1450 | A>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_013330 rs56296335 CA212872015 |
1450 | A>T | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1013510354 CA212872021 |
1451 | L>V | No |
ClinGen Ensembl |
|
|
rs750778276 CA212872027 |
1452 | L>F | No |
ClinGen Ensembl |
|
|
CA5644121 rs369429349 |
1453 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000592178 CA5644120 rs769022665 |
1453 | R>W | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA378129926 rs1451051789 |
1455 | S>Y | No |
ClinGen gnomAD |
|
|
rs1046615391 CA212872046 |
1456 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs772572036 CA5644123 |
1461 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs201658889 RCV000596586 CA5644122 |
1461 | D>G | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA212872054 rs897003279 |
1461 | D>N | No |
ClinGen Ensembl |
|
|
CA378129998 rs1590195794 |
1462 | E>G | No |
ClinGen Ensembl |
|
|
CA212872067 rs1027097712 |
1463 | A>T | No |
ClinGen Ensembl |
|
|
CA378130008 rs1257517385 |
1463 | A>V | No |
ClinGen gnomAD |
|
|
CA5644124 rs776113583 |
1464 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1202945746 CA378130013 |
1464 | T>I | No |
ClinGen gnomAD |
|
|
rs143844308 CA5644125 |
1466 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA378130037 rs373467581 |
1467 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373467581 CA5644127 |
1467 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA212872084 rs943354331 |
1468 | D>V | No |
ClinGen TOPMed |
|
|
rs1418295468 CA378130058 |
1469 | L>V | No |
ClinGen gnomAD |
|
|
CA378130097 rs1176260311 |
1473 | N>S | No |
ClinGen gnomAD |
|
|
CA378130102 rs1218342933 |
1474 | L>F | No |
ClinGen TOPMed |
|
|
rs1018285054 CA212872118 |
1477 | T>A | No |
ClinGen TOPMed |
|
|
CA378130139 rs1366525701 |
1480 | Q>* | No |
ClinGen TOPMed |
|
|
rs1564703854 RCV000734837 CA378130142 |
1480 | Q>R | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA378130152 rs536104796 |
1481 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371733435 CA212872156 |
1482 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA378130167 rs756299268 |
1483 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA378130169 rs1354984709 |
1484 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA378130177 rs1590195895 |
1484 | A>V | No |
ClinGen Ensembl |
|
|
rs780026074 CA378130188 |
1485 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378130231 rs1424766401 |
1489 | I>M | No |
ClinGen TOPMed |
|
|
rs779269741 CA5644142 |
1489 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779269741 CA5644141 |
1489 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378130229 rs779269741 |
1489 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5644140 rs376336059 |
1489 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs967548842 CA212872233 |
1492 | A>T | No |
ClinGen gnomAD |
|
|
rs1479621417 CA378130272 |
1492 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 1497 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA378130323 rs1402929399 |
1497 | T>N | No |
ClinGen gnomAD |
|
|
rs539252097 CA10606286 RCV000408321 |
1498 | I>M | No |
ClinGen ClinVar 1000Genomes dbSNP |
|
|
CA5644149 rs769296980 |
1498 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs762597571 CA5644151 |
1499 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA378130341 rs762597571 |
1499 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs149200446 CA5644150 RCV000597912 |
1499 | M>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs143278266 CA5644152 |
1501 | S>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5644153 rs774178958 |
1501 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761744789 CA5644154 |
1502 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5644156 rs767535698 |
1503 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA378130498 rs1462140907 |
1503 | K>N | No |
ClinGen gnomAD |
|
|
rs1382237404 CA378130502 |
1504 | V>L | No |
ClinGen gnomAD |
|
|
CA378130540 rs1185545789 |
1506 | V>I | No |
ClinGen gnomAD |
|
|
rs1383460004 CA378130562 |
1507 | L>P | No |
ClinGen gnomAD |
|
|
rs751985179 RCV000729305 CA5644182 |
1510 | G>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA212872943 rs1000373193 |
1511 | K>E | No |
ClinGen TOPMed |
|
|
CA378130628 rs1407960691 |
1511 | K>R | No |
ClinGen gnomAD |
|
|
RCV000730904 rs1564704176 CA378130657 |
1513 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
RCV000733334 rs186295082 CA5644186 |
1516 | G>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs768015709 CA5644187 |
1518 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA5644188 rs778592657 |
1519 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1564704207 RCV000732384 CA378130737 |
1519 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA212872977 rs1008057529 |
1520 | E>K | No |
ClinGen TOPMed |
|
|
rs1554854998 RCV000596569 |
1521 | L>missing | No |
ClinVar dbSNP |
|
|
rs747747906 CA5644189 |
1521 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771857453 CA5644190 |
1522 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5644194 RCV000595681 rs776473749 |
1527 | P>L | No |
ClinGen ClinVar ExAC dbSNP |
|
|
rs759540575 CA5644195 |
1529 | Y>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765242108 CA5644196 |
1530 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752776810 CA5644197 |
1531 | M>K | No |
ClinGen ExAC gnomAD |
|
|
CA378130942 rs1244014457 |
1534 | E>A | No |
ClinGen gnomAD |
|
|
CA378130968 rs1474538077 |
1536 | G>V | No |
ClinGen gnomAD |
|
|
rs763155977 CA5644198 |
1537 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA5644199 rs764355811 |
1538 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1353079932 CA378131052 |
1544 | K>I | No |
ClinGen TOPMed |
|
|
rs1564704261 CA378131076 |
1545 | F>L | No |
ClinGen Ensembl |
1 associated diseases with Q92887
[MIM: 237500]: Dubin-Johnson syndrome (DJS)
Autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function. . Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- Autosomal recessive disorder characterized by conjugated hyperbilirubinemia, an increase in the urinary excretion of coproporphyrin isomer I, deposition of melanin-like pigment in hepatocytes, and prolonged retention of sulfobromophthalein, but otherwise normal liver function. . Note=The disease is caused by variants affecting the gene represented in this entry.
7 regional properties for Q92887
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | ABC transporter-like, ATP-binding domain | 637 - 861 | IPR003439-1 |
| domain | ABC transporter-like, ATP-binding domain | 1300 - 1534 | IPR003439-2 |
| domain | AAA+ ATPase domain | 663 - 838 | IPR003593-1 |
| domain | AAA+ ATPase domain | 1326 - 1511 | IPR003593-2 |
| domain | ABC transporter type 1, transmembrane domain | 323 - 605 | IPR011527-1 |
| domain | ABC transporter type 1, transmembrane domain | 979 - 1264 | IPR011527-2 |
| conserved_site | ABC transporter-like, conserved site | 761 - 775 | IPR017871 |
Functions
| Description | ||
|---|---|---|
| EC Number | 7.6.2.2 | Linked to the hydrolysis of a nucleoside triphosphate |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
4 GO annotations of cellular component
| Name | Definition |
|---|---|
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| intercellular canaliculus | An extremely narrow tubular channel located between adjacent cells. An instance of this is the secretory canaliculi occurring between adjacent parietal cells in the gastric mucosa of vertebrates. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
10 GO annotations of molecular function
| Name | Definition |
|---|---|
| ABC-type glutathione S-conjugate transporter activity | Catalysis of the reaction |
| ABC-type transporter activity | Primary active transporter characterized by two nucleotide-binding domains and two transmembrane domains. Uses the energy generated from ATP hydrolysis to drive the transport of a substance across a membrane. |
| ABC-type xenobiotic transporter activity | Catalysis of the reaction |
| ATP binding | Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator. |
| ATP hydrolysis activity | Catalysis of the reaction |
| ATPase-coupled inorganic anion transmembrane transporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction |
| ATPase-coupled transmembrane transporter activity | Primary active transporter of a solute across a membrane, via the reaction |
| bilirubin transmembrane transporter activity | Enables the transfer of bilirubin from one side of a membrane to the other. Bilirubin is a linear tetrapyrrole produced in the reticuloendothelial system from biliverdin and transported to the liver as a complex with serum albumin. In the liver, bilirubin is converted to bilirubin bisglucuronide, which is excreted in the bile. |
| organic anion transmembrane transporter activity | Enables the transfer of organic anions from one side of a membrane to the other. Organic anions are atoms or small molecules with a negative charge which contain carbon in covalent linkage. |
| xenobiotic transmembrane transporter activity | Enables the directed movement of a xenobiotic from one side of a membrane to the other. A xenobiotic is a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
12 GO annotations of biological process
| Name | Definition |
|---|---|
| bile acid and bile salt transport | The directed movement of bile acid and bile salts into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| bilirubin transport | The directed movement of bilirubin into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| heme catabolic process | The chemical reactions and pathways resulting in the breakdown of heme, any compound of iron complexed in a porphyrin (tetrapyrrole) ring. |
| leukotriene transport | The directed movement of leukotrienes into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Leukotrienes are linear C20 endogenous metabolites of arachidonic acid (icosa-5,8,11,14-tetraenoic acid) containing a terminal carboxy function and four or more double bonds (three or more of which are conjugated) as well as other functional groups. |
| negative regulation of gene expression | Any process that decreases the frequency, rate or extent of gene expression. Gene expression is the process in which a gene's coding sequence is converted into a mature gene product (protein or RNA). |
| transepithelial transport | The directed movement of a substance from one side of an epithelium to the other. |
| transmembrane transport | The process in which a solute is transported across a lipid bilayer, from one side of a membrane to the other. |
| transport across blood-brain barrier | The directed movement of substances (e.g. macromolecules, small molecules, ions) through the blood-brain barrier. |
| xenobiotic export from cell | The directed movement of a xenobiotic from a cell, into the extracellular region. A xenobiotic is a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| xenobiotic metabolic process | The chemical reactions and pathways involving a xenobiotic compound, a compound foreign to the organim exposed to it. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| xenobiotic transmembrane transport | The process in which a xenobiotic, a compound foreign to the organim exposed to it, is transported across a membrane. It may be synthesized by another organism (like ampicilin) or it can be a synthetic chemical. |
| xenobiotic transport across blood-brain barrier | The directed movement of a xenobiotic through the blood-brain barrier. |
25 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| P14772 | BPT1 | Bile pigment transporter 1 | Saccharomyces cerevisiae (strain ATCC 204508 / S288c) (Baker's yeast) | PR |
| Q8HXQ5 | ABCC1 | Multidrug resistance-associated protein 1 | Bos taurus (Bovine) | PR |
| Q2QLE5 | CFTR | Cystic fibrosis transmembrane conductance regulator | Pan troglodytes (Chimpanzee) | PR |
| P91660 | Rh5 | Probable multidrug resistance-associated protein lethal(2)03659 | Drosophila melanogaster (Fruit fly) | PR |
| O15438 | ABCC3 | ATP-binding cassette sub-family C member 3 | Homo sapiens (Human) | PR |
| O95255 | ABCC6 | ATP-binding cassette sub-family C member 6 | Homo sapiens (Human) | PR |
| P33527 | ABCC1 | Multidrug resistance-associated protein 1 | Homo sapiens (Human) | PR |
| Q96J66 | ABCC11 | ATP-binding cassette sub-family C member 11 | Homo sapiens (Human) | PR |
| P13569 | CFTR | Cystic fibrosis transmembrane conductance regulator | Homo sapiens (Human) | PR |
| O15439 | ABCC4 | ATP-binding cassette sub-family C member 4 | Homo sapiens (Human) | PR |
| B2RX12 | Abcc3 | ATP-binding cassette sub-family C member 3 | Mus musculus (Mouse) | PR |
| P26361 | Cftr | Cystic fibrosis transmembrane conductance regulator | Mus musculus (Mouse) | PR |
| Q80WJ6 | Abcc12 | ATP-binding cassette sub-family C member 12 | Mus musculus (Mouse) | PR |
| O35379 | Abcc1 | Multidrug resistance-associated protein 1 | Mus musculus (Mouse) | PR |
| Q8VI47 | Abcc2 | ATP-binding cassette sub-family C member 2 | Mus musculus (Mouse) | SS |
| Q6PQZ2 | CFTR | Cystic fibrosis transmembrane conductance regulator | Sus scrofa (Pig) | PR |
| Q6Y306 | Abcc12 | ATP-binding cassette sub-family C member 12 | Rattus norvegicus (Rat) | PR |
| Q8CG09 | Abcc1 | Multidrug resistance-associated protein 1 | Rattus norvegicus (Rat) | PR |
| Q63120 | Abcc2 | ATP-binding cassette sub-family C member 2 | Rattus norvegicus (Rat) | EV |
| Q00553 | CFTR | Cystic fibrosis transmembrane conductance regulator | Macaca mulatta (Rhesus macaque) | PR |
| Q9SKX0 | ABCC13 | ABC transporter C family member 13 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8VZZ4 | ABCC6 | ABC transporter C family member 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M1C7 | ABCC9 | ABC transporter C family member 9 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9C8G9 | ABCC1 | ABC transporter C family member 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9C8H0 | ABCC12 | ABC transporter C family member 12 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLEKFCNSTF | WNSSFLDSPE | ADLPLCFEQT | VLVWIPLGYL | WLLAPWQLLH | VYKSRTKRSS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| TTKLYLAKQV | FVGFLLILAA | IELALVLTED | SGQATVPAVR | YTNPSLYLGT | WLLVLLIQYS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RQWCVQKNSW | FLSLFWILSI | LCGTFQFQTL | IRTLLQGDNS | NLAYSCLFFI | SYGFQILILI |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FSAFSENNES | SNNPSSIASF | LSSITYSWYD | SIILKGYKRP | LTLEDVWEVD | EEMKTKTLVS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| KFETHMKREL | QKARRALQRR | QEKSSQQNSG | ARLPGLNKNQ | SQSQDALVLE | DVEKKKKKSG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TKKDVPKSWL | MKALFKTFYM | VLLKSFLLKL | VNDIFTFVSP | QLLKLLISFA | SDRDTYLWIG |
| 370 | 380 | 390 | 400 | 410 | 420 |
| YLCAILLFTA | ALIQSFCLQC | YFQLCFKLGV | KVRTAIMASV | YKKALTLSNL | ARKEYTVGET |
| 430 | 440 | 450 | 460 | 470 | 480 |
| VNLMSVDAQK | LMDVTNFMHM | LWSSVLQIVL | SIFFLWRELG | PSVLAGVGVM | VLVIPINAIL |
| 490 | 500 | 510 | 520 | 530 | 540 |
| STKSKTIQVK | NMKNKDKRLK | IMNEILSGIK | ILKYFAWEPS | FRDQVQNLRK | KELKNLLAFS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QLQCVVIFVF | QLTPVLVSVV | TFSVYVLVDS | NNILDAQKAF | TSITLFNILR | FPLSMLPMMI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| SSMLQASVST | ERLEKYLGGD | DLDTSAIRHD | CNFDKAMQFS | EASFTWEHDS | EATVRDVNLD |
| 670 | 680 | 690 | 700 | 710 | 720 |
| IMAGQLVAVI | GPVGSGKSSL | ISAMLGEMEN | VHGHITIKGT | TAYVPQQSWI | QNGTIKDNIL |
| 730 | 740 | 750 | 760 | 770 | 780 |
| FGTEFNEKRY | QQVLEACALL | PDLEMLPGGD | LAEIGEKGIN | LSGGQKQRIS | LARATYQNLD |
| 790 | 800 | 810 | 820 | 830 | 840 |
| IYLLDDPLSA | VDAHVGKHIF | NKVLGPNGLL | KGKTRLLVTH | SMHFLPQVDE | IVVLGNGTIV |
| 850 | 860 | 870 | 880 | 890 | 900 |
| EKGSYSALLA | KKGEFAKNLK | TFLRHTGPEE | EATVHDGSEE | EDDDYGLISS | VEEIPEDAAS |
| 910 | 920 | 930 | 940 | 950 | 960 |
| ITMRRENSFR | RTLSRSSRSN | GRHLKSLRNS | LKTRNVNSLK | EDEELVKGQK | LIKKEFIETG |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| KVKFSIYLEY | LQAIGLFSIF | FIILAFVMNS | VAFIGSNLWL | SAWTSDSKIF | NSTDYPASQR |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| DMRVGVYGAL | GLAQGIFVFI | AHFWSAFGFV | HASNILHKQL | LNNILRAPMR | FFDTTPTGRI |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| VNRFAGDIST | VDDTLPQSLR | SWITCFLGII | STLVMICMAT | PVFTIIVIPL | GIIYVSVQMF |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| YVSTSRQLRR | LDSVTRSPIY | SHFSETVSGL | PVIRAFEHQQ | RFLKHNEVRI | DTNQKCVFSW |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| ITSNRWLAIR | LELVGNLTVF | FSALMMVIYR | DTLSGDTVGF | VLSNALNITQ | TLNWLVRMTS |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| EIETNIVAVE | RITEYTKVEN | EAPWVTDKRP | PPDWPSKGKI | QFNNYQVRYR | PELDLVLRGI |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| TCDIGSMEKI | GVVGRTGAGK | SSLTNCLFRI | LEAAGGQIII | DGVDIASIGL | HDLREKLTII |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| PQDPILFSGS | LRMNLDPFNN | YSDEEIWKAL | ELAHLKSFVA | SLQLGLSHEV | TEAGGNLSIG |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| QRQLLCLGRA | LLRKSKILVL | DEATAAVDLE | TDNLIQTTIQ | NEFAHCTVIT | IAHRLHTIMD |
| 1510 | 1520 | 1530 | 1540 | ||
| SDKVMVLDNG | KIIECGSPEE | LLQIPGPFYF | MAKEAGIENV | NSTKF |