Q9Y6R1
PR
Gene name |
SLC4A4 (NBC, NBC1, NBCE1) |
Protein name |
Electrogenic sodium bicarbonate cotransporter 1 |
Names |
Sodium bicarbonate cotransporter, Na(+)/HCO3(-) cotransporter, Solute carrier family 4 member 4, kNBC1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:8671 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q9Y6R1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6CAA | EM | 390 A | A/B | 77-1079 | PDB |
| AF-Q9Y6R1-F1 | Predicted | AlphaFoldDB |
649 variants for Q9Y6R1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000303899 CA2954527 rs781030949 |
97 | G>E | Variant assessed as Somatic; 0.0 impact. Autosomal recessive proximal renal tubular acidosis [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA2954531 RCV001156087 RCV002558355 rs748205618 |
110 | T>M | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001861238 RCV000260340 CA2954578 rs139851720 RCV002520265 |
171 | M>V | Autosomal recessive proximal renal tubular acidosis Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000320068 RCV002523476 CA2954579 rs149802590 |
174 | R>W | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2954648 rs772360411 RCV000356228 |
248 | M>V | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1553913019 RCV000656732 |
277 | K>missing | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_024751 CA118293 RCV000006844 rs121908856 |
342 | R>S | Autosomal recessive proximal renal tubular acidosis pRTA-OA; decreased localization to the basolateral membrane; mistargeting to the apical membrane probably explains the loss of the cotransporter activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl dbSNP |
|
rs886059595 CA10621647 RCV000326814 |
378 | I>L | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs886059596 RCV000381454 CA10621650 |
412 | N>S | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
COSM328670 RCV000400494 rs148635969 RCV000893381 CA2954781 COSM328669 |
424 | G>D | liver large_intestine Autosomal recessive proximal renal tubular acidosis [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
COSM4159164 CA2954784 RCV001152303 COSM4159163 rs771339934 RCV002032405 |
433 | C>R | thyroid Autosomal recessive proximal renal tubular acidosis [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2954800 RCV001153586 COSM1430832 RCV001760109 COSM1430833 rs138493429 RCV002557305 |
454 | A>V | large_intestine Autosomal recessive proximal renal tubular acidosis Inborn genetic diseases [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
| VAR_024752 | 471 | S>L | pRTA-OA; mistargeting to the apical membrane and altered function [UniProt] | Yes | UniProt |
| VAR_024753 | 529 | T>S | pRTA-OA; decreased cotransporter activity; mediates electroneutral sodium/bicarbonate cotransport rather than electrogenic sodium/bicarbonate cotransport; no effect on cell membrane localization; significant loss of cotransporter activity when associated with S-530 [UniProt] | Yes | UniProt |
| VAR_071661 | 530 | G>R | pRTA-OA; decreased cotransporter activity; no effect on localization to the basolateral membrane; significant loss of cotransporter activity when associated with S-529 [UniProt] | Yes | UniProt |
|
VAR_024754 CA118296 rs121908857 RCV000006845 |
554 | R>H | Variant assessed as Somatic; impact. Autosomal recessive proximal renal tubular acidosis pRTA-OA; mistargeting and altered function [NCI-TCGA, ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt Ensembl NCI-TCGA dbSNP |
| VAR_071662 | 566 | L>P | pRTA-OA; loss of localization to the plasma membrane; the retention in the cytoplasm probably explains the loss of the cotransporter activity [UniProt] | Yes | UniProt |
|
RCV001153588 RCV000886002 rs72650362 CA2954890 |
602 | K>R | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001153589 CA2954903 rs150863118 |
634 | P>S | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA2954957 RCV000958739 rs145378038 RCV000343135 |
648 | E>K | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA2954997 RCV001156203 RCV002558358 rs201133749 |
680 | N>K | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001156204 CA2955002 rs35891845 RCV000961043 |
684 | N>I | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs148889712 RCV000956778 CA2955051 RCV000297189 |
748 | V>A | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000970967 CA2955054 rs140846842 RCV002503069 |
758 | E>Q | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002057946 RCV000356669 rs140882617 CA2955084 |
771 | P>S | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs201643562 CA2955129 RCV000392761 |
829 | L>I | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000312498 CA2955132 rs202236628 |
835 | L>F | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
| VAR_024755 | 843 | A>V | pRTA-OA; altered function [UniProt] | Yes | UniProt |
|
RCV001157879 rs1735529581 |
849 | I>M | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1735535325 RCV001157880 |
871 | L>R | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinVar dbSNP |
|
rs138942006 RCV000902622 CA2955168 RCV000367196 |
892 | F>L | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_024756 rs1203164637 CA357422272 |
925 | R>C | Variant assessed as Somatic; impact. pRTA-OA; altered function [NCI-TCGA, UniProt] | Yes |
ClinGen UniProt NCI-TCGA TOPMed dbSNP |
|
CA2955322 rs145013450 RCV001152407 |
1076 | H>R | Autosomal recessive proximal renal tubular acidosis [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA357414682 rs1327290885 |
2 | E>G | No |
ClinGen Ensembl |
|
|
CA357414689 rs1330011264 |
3 | D>Y | No |
ClinGen gnomAD |
|
|
CA357414715 rs1208614477 |
5 | A>S | No |
ClinGen gnomAD |
|
|
CA357414744 rs1182345891 |
9 | R>G | No |
ClinGen gnomAD |
|
|
rs765297615 CA2954452 |
10 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs753231947 CA2954453 |
11 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA357414788 rs1416005066 |
15 | K>N | No |
ClinGen gnomAD |
|
|
rs1333519852 CA357414785 |
15 | K>R | No |
ClinGen TOPMed |
|
| TCGA novel | 17 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560801621 CA357414798 |
17 | V>L | No |
ClinGen Ensembl |
|
|
CA357415759 rs1430335958 |
27 | H>R | No |
ClinGen gnomAD |
|
|
rs749218443 CA2954464 |
29 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1041064148 CA99440917 |
31 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs377031010 CA99440918 |
32 | G>R | No |
ClinGen 1000Genomes ESP TOPMed gnomAD |
|
|
CA357415929 rs1231291191 |
36 | P>L | No |
ClinGen gnomAD |
|
|
rs1343454240 CA357415923 |
36 | P>S | No |
ClinGen gnomAD |
|
|
CA99440919 rs888297264 |
39 | Y>C | No |
ClinGen TOPMed |
|
|
rs776904118 CA2954470 |
41 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA357416037 rs1191442324 |
43 | R>K | No |
ClinGen gnomAD |
|
|
rs867931760 CA357416056 |
44 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA357416058 rs1252178361 |
44 | R>H | No |
ClinGen gnomAD |
|
|
rs867931760 CA99440920 |
44 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1449950226 CA357416109 |
47 | R>G | No |
ClinGen gnomAD |
|
|
CA2954472 rs41265669 |
50 | G>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1393069650 CA357416207 |
53 | E>D | No |
ClinGen gnomAD |
|
|
CA357416202 rs1163923242 |
53 | E>G | No |
ClinGen gnomAD |
|
| TCGA novel | 54 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357416215 rs1460105119 |
54 | K>Q | No |
ClinGen gnomAD |
|
|
rs1037177466 CA99440921 |
57 | K>R | No |
ClinGen TOPMed |
|
|
rs560219064 CA2954473 |
59 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 59 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357416274 rs1185702051 |
60 | I>L | No |
ClinGen TOPMed |
|
|
CA357416291 rs1256170026 |
61 | S>F | No |
ClinGen TOPMed |
|
|
rs763409420 CA2954474 |
61 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2954475 rs764607132 COSM1057156 |
62 | E>D | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2954476 rs201370168 |
63 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2954477 rs757623063 |
64 | Y>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA99440922 rs757623063 |
64 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2954478 rs781476675 |
65 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA2954479 rs750078946 |
65 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779587819 CA2954483 |
69 | D>A | No |
ClinGen ExAC gnomAD |
|
|
rs779587819 CA357416382 |
69 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs748841942 CA99440923 |
70 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748841942 CA2954484 |
70 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 73 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357416460 rs1188290690 |
75 | E>K | No |
ClinGen gnomAD |
|
|
CA357416485 rs1370296052 |
76 | S>Y | No |
ClinGen gnomAD |
|
|
CA2954486 COSM3392947 rs778993689 |
79 | S>N | Variant assessed as Somatic; 0.0 impact. pancreas [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA2954487 rs748159337 |
79 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs771883561 CA2954488 |
85 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2954522 rs752280327 |
87 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA2954524 rs144438179 |
90 | E>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357414373 rs1392645451 |
91 | R>C | No |
ClinGen gnomAD |
|
|
COSM1694502 CA357414378 rs746761566 COSM1694503 |
91 | R>H | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2954525 rs746761566 |
91 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM170325 rs1237613315 CA357414400 |
93 | R>Q | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs756988866 CA2954526 |
95 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749479356 CA2954528 |
101 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA357414481 rs1430317541 |
101 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA2954529 rs768913941 |
105 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357414512 rs1220574168 |
105 | P>L | No |
ClinGen TOPMed |
|
|
CA357414508 rs768913941 |
105 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2954530 rs146115336 |
106 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 107 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 107 | Q>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376538998 COSM1196862 CA99450337 CA2954535 COSM1196861 |
118 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs376538998 CA2954534 |
118 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357414605 rs1322505626 |
120 | G>A | No |
ClinGen gnomAD |
|
|
rs1271553868 CA357414611 |
121 | Q>R | No |
ClinGen gnomAD |
|
|
rs1418274022 CA357414629 |
123 | M>I | No |
ClinGen TOPMed |
|
|
CA357414624 rs1468318813 |
123 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA357414625 rs1468318813 |
123 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
rs777187621 CA2954536 |
126 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs765014658 CA2954538 |
128 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1441556936 CA357414708 |
130 | R>K | No |
ClinGen TOPMed |
|
|
CA357415631 rs1281537850 |
133 | K>Q | No |
ClinGen gnomAD |
|
|
rs1348944261 CA357415711 |
137 | K>N | No |
ClinGen gnomAD |
|
|
rs867784169 CA99451510 |
139 | E>* | No |
ClinGen Ensembl |
|
| TCGA novel | 145 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357416070 rs755912760 |
149 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA2954571 rs752835067 |
152 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA2954572 rs758700409 |
156 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA357416245 rs1337797532 |
158 | L>V | No |
ClinGen TOPMed |
|
|
rs1468398614 CA357416280 CA357416278 |
159 | F>L | No |
ClinGen gnomAD |
|
|
CA357416300 rs1157800654 |
160 | E>D | No |
ClinGen gnomAD |
|
|
rs1578892632 CA357416285 |
160 | E>Q | No |
ClinGen Ensembl |
|
|
rs1395544001 CA552616374 |
161 | L>H | No |
ClinGen gnomAD |
|
|
rs777668991 CA2954573 |
163 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs747146513 CA2954574 |
165 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA99451513 rs906192343 |
165 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2954575 rs41265671 |
166 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs781768390 CA2954576 |
169 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1431718784 CA357416430 |
170 | I>L | No |
ClinGen TOPMed |
|
|
rs746436209 CA2954577 |
170 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs762490300 CA2954580 |
174 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1232716865 CA357416503 |
175 | E>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs768376775 CA2954581 |
176 | A>P | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 179 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357416590 rs1353125682 |
181 | Q>L | No |
ClinGen Ensembl |
|
|
rs767382056 CA2954584 |
183 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1371385436 CA357416909 |
185 | M>I | No |
ClinGen gnomAD |
|
|
rs780231212 CA2954600 |
186 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2954601 rs749691459 |
189 | H>D | No |
ClinGen ExAC gnomAD |
|
|
rs1420372949 CA357416946 |
190 | Q>H | No |
ClinGen gnomAD |
|
|
CA2954602 rs768124053 |
193 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2954603 rs768124053 |
193 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357416972 rs747852925 |
195 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA2954604 rs747852925 |
195 | L>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 197 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760561625 CA357416991 |
198 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs760561625 CA2954607 |
198 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1316897458 CA357417000 |
199 | E>V | No |
ClinGen gnomAD |
|
|
rs756131828 CA2954608 |
200 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756131828 CA357417004 |
200 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776225388 CA2954609 |
200 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA357417010 rs1293512705 |
201 | K>* | No |
ClinGen TOPMed gnomAD |
|
|
CA357417008 rs1293512705 |
201 | K>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs751827235 CA2954612 |
205 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs777696257 CA99452272 |
206 | Y>C | No |
ClinGen Ensembl |
|
|
CA357417061 rs1272352669 |
208 | L>F | No |
ClinGen gnomAD |
|
|
CA2954613 rs757594713 |
209 | L>H | No |
ClinGen ExAC gnomAD |
|
|
rs964627894 CA99452274 |
210 | R>Q | No |
ClinGen gnomAD |
|
|
CA357417069 rs1337721443 |
210 | R>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2954615 rs750552801 |
212 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs933990528 CA99452275 |
213 | R>Q | No |
ClinGen TOPMed |
|
|
rs375731627 CA2954617 |
213 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA357417102 rs1164604188 |
215 | Q>R | No |
ClinGen gnomAD |
|
|
COSM1226454 rs779313209 COSM1226453 CA2954620 |
220 | N>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1234237169 CA357417149 |
222 | R>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 223 | S>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357417165 rs1384943635 |
225 | A>T | No |
ClinGen gnomAD |
|
|
rs770990234 CA99452276 |
230 | T>A | No |
ClinGen Ensembl |
|
|
CA2954626 rs776619122 |
236 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1284226419 CA357417259 |
238 | F>L | No |
ClinGen TOPMed |
|
|
rs148500426 CA2954627 |
239 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1211642028 CA357417274 |
241 | P>T | No |
ClinGen gnomAD |
|
|
rs775473449 CA2954629 |
243 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1187451910 CA357417290 |
243 | N>S | No |
ClinGen gnomAD |
|
|
rs769873680 CA2954645 |
244 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1451971658 CA357415442 |
246 | P>S | No |
ClinGen gnomAD |
|
|
CA2954647 rs762844653 |
247 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1215215654 CA357415458 |
248 | M>I | No |
ClinGen TOPMed |
|
|
CA357415454 rs1240560109 |
248 | M>T | No |
ClinGen TOPMed |
|
|
rs1054318929 CA357415466 |
250 | H>D | No |
ClinGen gnomAD |
|
|
CA99456981 rs1054318929 |
250 | H>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 252 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1296146509 CA357415503 |
255 | S>F | No |
ClinGen gnomAD |
|
|
rs773551466 CA2954649 |
256 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA357415512 rs1270049022 |
257 | S>N | No |
ClinGen TOPMed |
|
|
rs910457241 CA99456982 |
259 | N>S | No |
ClinGen TOPMed |
|
|
CA99456983 rs1031550297 |
260 | D>V | No |
ClinGen TOPMed |
|
|
rs1380955180 CA357415540 |
261 | I>T | No |
ClinGen TOPMed |
|
|
CA2954653 rs760051430 |
261 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296422829 CA357415549 |
263 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 263 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2954654 rs765868207 |
265 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA357415568 rs765868207 |
265 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1309432996 CA357415564 |
265 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 266 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469179202 CA357415583 |
267 | K>N | No |
ClinGen gnomAD |
|
|
rs758750649 CA2954656 |
268 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA357417348 rs1415368721 |
275 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 277 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357417386 COSM1694505 COSM1694504 rs1159727907 |
280 | R>C | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
COSM1057172 rs376230462 COSM1057173 CA2954677 |
280 | R>H | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs786205569 RCV000171377 CA236215 |
281 | D>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs112689683 CA99461975 |
282 | A>T | No |
ClinGen Ensembl |
|
|
CA357417426 rs1156536835 |
286 | N>S | No |
ClinGen TOPMed |
|
|
rs1560510725 CA357417433 |
287 | V>A | No |
ClinGen Ensembl |
|
|
rs201871554 CA2954680 |
287 | V>M | Variant assessed as Somatic; 0.0003234 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2954681 rs755670542 |
290 | G>A | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 291 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1233298806 CA357417457 |
291 | E>V | No |
ClinGen TOPMed |
|
|
rs1440668413 CA357417461 |
292 | V>L | No |
ClinGen TOPMed |
|
|
CA99461976 rs989632309 |
293 | D>G | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 294 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357417492 rs1486098803 |
296 | D>G | No |
ClinGen TOPMed |
|
|
CA2954683 rs749204335 |
298 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs372798212 CA2954684 |
299 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2954686 rs747159754 |
300 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376061886 CA2954687 |
301 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 303 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs746159136 CA2954689 |
307 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA357417567 rs1472309461 |
308 | A>P | No |
ClinGen gnomAD |
|
| TCGA novel | 308 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177575402 CA357417573 |
309 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 311 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 312 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2954690 rs370035396 |
312 | G>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs568270283 CA99461977 |
316 | E>D | No |
ClinGen 1000Genomes |
|
| TCGA novel | 318 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs763401489 CA2954693 |
321 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA2954713 rs774707540 |
324 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1263848020 CA357417683 |
325 | F>I | No |
ClinGen TOPMed |
|
|
rs762448439 CA2954714 |
326 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2954717 rs572285443 |
332 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2954716 rs572285443 |
332 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357417749 rs1197797653 |
335 | K>E | No |
ClinGen gnomAD |
|
|
CA357417763 rs1295526653 |
337 | Y>H | No |
ClinGen TOPMed |
|
|
CA357417774 rs1469794133 |
338 | H>R | No |
ClinGen gnomAD |
|
|
rs375658881 CA2954719 |
338 | H>Y | No |
ClinGen ESP ExAC gnomAD |
|
|
CA357417787 rs1377118904 |
340 | I>V | No |
ClinGen gnomAD |
|
|
CA357417808 rs1340443691 |
343 | A>G | No |
ClinGen TOPMed |
|
|
CA357417811 rs1475806922 |
344 | I>V | No |
ClinGen gnomAD |
|
|
CA357417836 rs1421831560 |
348 | M>L | No |
ClinGen gnomAD |
|
|
CA357417838 rs1465369889 |
348 | M>T | No |
ClinGen gnomAD |
|
|
rs1348902362 CA357417895 |
354 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs773669644 CA2954735 |
355 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1357131412 CA357417915 |
357 | A>P | No |
ClinGen gnomAD |
|
|
rs200568322 CA2954737 |
358 | Y>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA99463005 rs1023017198 |
359 | K>I | No |
ClinGen TOPMed |
|
|
CA357417953 rs1283943265 |
362 | D>E | No |
ClinGen gnomAD |
|
|
COSM1057178 rs1206923428 COSM1057179 CA357417949 |
362 | D>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA2954739 rs759277095 |
364 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs368983343 CA2954740 |
365 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368983343 CA357417970 |
365 | D>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs981578231 CA99463007 |
366 | L>M | No |
ClinGen TOPMed |
|
|
CA357417984 rs1283665030 |
367 | I>T | No |
ClinGen TOPMed |
|
|
rs764024312 CA2954743 |
370 | I>F | No |
ClinGen ExAC |
|
|
rs886059595 CA99463008 |
378 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
rs886059595 CA357418056 |
378 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs781031046 CA2954746 |
379 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2954747 rs754026790 |
386 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA357418119 rs1313099219 |
387 | P>L | No |
ClinGen gnomAD |
|
|
CA2954750 rs140258099 |
397 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs758762368 CA99463009 |
399 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758762368 CA2954751 |
399 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA99463010 rs57897542 |
400 | S>Y | No |
ClinGen Ensembl |
|
|
rs1048611954 CA99463012 |
401 | D>E | No |
ClinGen TOPMed |
|
|
CA99463011 rs928889013 |
401 | D>V | No |
ClinGen Ensembl |
|
|
CA357418250 rs1188163464 |
405 | N>S | No |
ClinGen gnomAD |
|
|
CA357418259 rs765498323 CA2954767 |
406 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs758549949 CA2954769 |
408 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2954770 rs778043180 |
409 | G>V | No |
ClinGen ExAC gnomAD |
|
|
rs747499245 CA2954771 |
411 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174897900 CA357418292 |
412 | N>H | No |
ClinGen gnomAD |
|
|
CA2954772 rs757862562 |
413 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs757862562 CA99463072 |
413 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466927300 CA357418299 |
413 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 414 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 414 | Q>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2954773 rs540927022 |
415 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs1441522117 CA357418334 |
418 | D>H | No |
ClinGen gnomAD |
|
|
CA2954774 COSM1430829 rs150324904 COSM1430828 |
419 | T>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs775193706 CA2954776 |
420 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs576843254 CA2954779 |
421 | H>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1257797347 CA357418354 |
421 | H>Q | No |
ClinGen gnomAD |
|
|
rs370710771 COSM734789 COSM734788 CA2954780 |
421 | H>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs576843254 CA2954778 |
421 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA357418368 rs1329166985 |
423 | G>A | No |
ClinGen TOPMed |
|
|
CA2954783 COSM1430830 rs760529597 COSM1430831 |
426 | G>R | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA357418412 rs1355060292 |
430 | H>Q | No |
ClinGen gnomAD |
|
|
rs1305026741 CA357418423 |
432 | D>A | No |
ClinGen TOPMed |
|
| TCGA novel | 432 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752935590 CA2954785 |
434 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA357418442 rs1261945167 |
435 | E>K | No |
ClinGen gnomAD |
|
|
rs1370124409 CA357418456 |
436 | L>F | No |
ClinGen TOPMed |
|
|
rs375668046 CA99463074 |
438 | R>* | No |
ClinGen ESP |
|
|
rs1169489768 CA357418466 |
438 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1191130118 CA357418477 |
440 | G>E | No |
ClinGen gnomAD |
|
|
rs969000345 CA99463075 |
440 | G>R | No |
ClinGen gnomAD |
|
|
rs1461830749 CA357418483 |
441 | R>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
COSM1328414 rs530167253 CA2954786 COSM195714 |
441 | R>W | ovary Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA357418532 rs1297757215 |
447 | I>T | No |
ClinGen gnomAD |
|
|
rs1376293244 CA357418551 |
449 | D>E | No |
ClinGen gnomAD |
|
|
rs1224973479 CA357418565 |
451 | K>N | No |
ClinGen TOPMed |
|
|
rs773200104 CA2954799 |
454 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357418591 rs1224799419 |
455 | P>L | No |
ClinGen gnomAD |
|
|
CA2954802 rs776317333 |
457 | F>L | No |
ClinGen ExAC TOPMed |
|
|
rs1355216100 CA357418607 |
458 | A>S | No |
ClinGen gnomAD |
|
| TCGA novel | 458 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357418615 rs1284783144 |
459 | S>G | No |
ClinGen gnomAD |
|
|
rs763227236 CA2954804 |
459 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs763227236 CA2954803 |
459 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1211916975 CA357418638 |
462 | Y>F | No |
ClinGen gnomAD |
|
|
CA2954807 rs767557536 |
468 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA99463304 rs200620568 |
469 | A>T | No |
ClinGen 1000Genomes |
|
|
rs1437832706 CA357418698 |
471 | S>P | No |
ClinGen gnomAD |
|
|
CA357418711 rs1479115045 |
473 | I>V | No |
ClinGen TOPMed |
|
|
rs1395863319 CA357418717 |
474 | L>V | No |
ClinGen gnomAD |
|
|
CA357418742 rs1266130734 |
477 | Y>F | No |
ClinGen TOPMed |
|
|
CA552616436 rs1443461025 |
484 | A>VK* | No |
ClinGen gnomAD |
|
| TCGA novel | 493 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs371902610 CA2954811 |
495 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2954815 rs771582820 |
497 | N>S | No |
ClinGen ExAC gnomAD |
|
| rs373128647 | 500 | G>= | Variant assessed as Somatic; impact. Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs775473175 CA2954842 |
501 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2954843 rs376854506 |
505 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
rs867523939 CA99464688 |
509 | A>S | No |
ClinGen Ensembl |
|
| TCGA novel | 509 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 513 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357419053 COSM1057187 COSM1057186 rs1560533196 |
523 | L>V | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA357419068 rs1400192982 |
525 | I>S | No |
ClinGen gnomAD |
|
|
CA357419107 rs1284645271 |
531 | P>R | No |
ClinGen gnomAD |
|
|
rs1358427289 CA357419114 |
532 | V>A | No |
ClinGen gnomAD |
|
| TCGA novel | 535 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2954849 rs557716573 |
538 | L>F | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 540 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 540 | F>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357419167 rs1488682174 |
541 | N>H | No |
ClinGen gnomAD |
|
|
CA357419217 rs1560538488 |
545 | D>E | No |
ClinGen Ensembl |
|
|
CA357419211 rs1261790075 |
545 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 546 | N>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1038856732 CA99465383 |
546 | N>S | No |
ClinGen TOPMed |
|
|
CA2954869 rs759999689 |
547 | N>H | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 550 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 551 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357419321 rs1303109158 |
560 | W>L | No |
ClinGen gnomAD |
|
| TCGA novel | 560 | W>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1404082170 CA357419328 |
561 | S>P | No |
ClinGen gnomAD |
|
|
CA2954873 rs764587851 |
562 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1057191 COSM1057190 CA2954872 rs763214525 |
562 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA357419365 rs761573966 |
567 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA2954875 rs761573966 |
567 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs746539206 CA2954876 |
568 | L>A | No |
ClinGen ExAC |
|
|
CA2954877 rs768089972 |
568 | L>F | No |
ClinGen ExAC |
|
|
CA2954878 rs767086043 |
569 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1258043787 CA357419407 |
573 | A>V | No |
ClinGen gnomAD |
|
|
rs780150203 CA2954882 |
577 | V>D | No |
ClinGen ExAC |
|
|
rs1326897852 CA357419440 |
578 | Q>R | No |
ClinGen TOPMed |
|
|
rs754722455 CA2954885 |
579 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA357419453 rs1577986862 |
580 | F>V | No |
ClinGen Ensembl |
|
|
CA357419468 rs1176320345 |
582 | R>H | No |
ClinGen gnomAD |
|
|
rs1379009107 CA357419484 |
584 | T>M | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 586 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357419521 rs1400826392 |
590 | S>T | No |
ClinGen gnomAD |
|
|
CA2954889 rs781186518 |
595 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs769906270 CA99465386 |
598 | Y>H | No |
ClinGen gnomAD |
|
|
CA357419603 rs1355355128 |
601 | F>L | No |
ClinGen Ensembl |
|
|
CA357419597 rs1462229875 |
601 | F>L | No |
ClinGen TOPMed |
|
|
CA357419617 rs1303596896 |
603 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
CA357419654 rs1374100224 |
608 | A>V | No |
ClinGen TOPMed |
|
|
COSM357597 COSM357596 rs769920196 CA2954891 |
609 | D>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2954893 rs763557637 |
612 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357419685 rs1266136377 |
613 | I>V | No |
ClinGen TOPMed |
|
|
CA2954895 rs774799248 |
615 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs761515935 CA2954896 |
616 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs749894750 CA2954898 |
617 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA357419718 rs1255779990 |
618 | K>Q | No |
ClinGen TOPMed |
|
|
CA99465387 rs528614232 |
619 | V>M | No |
ClinGen Ensembl |
|
|
rs565018017 CA2954899 |
620 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1217744440 CA357419733 |
620 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 622 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2954900 rs766052860 |
624 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1560538940 CA357419761 |
624 | L>P | No |
ClinGen Ensembl |
|
|
rs753686491 CA2954901 |
626 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2954902 rs181405193 |
632 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs181405193 CA99465388 |
632 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1271803773 CA357419810 |
632 | P>T | No |
ClinGen TOPMed |
|
|
CA99465389 rs957430198 |
633 | D>V | No |
ClinGen TOPMed |
|
| TCGA novel | 635 | A>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1453042980 CA357420483 |
637 | I>N | No |
ClinGen TOPMed |
|
|
CA357420492 rs1278525037 |
638 | S>L | No |
ClinGen gnomAD |
|
|
rs755080451 CA2954951 |
639 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1359979453 CA357420502 |
640 | S>F | No |
ClinGen TOPMed |
|
|
CA99467013 rs1057450680 |
642 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
CA357420516 rs1057450680 |
642 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
| TCGA novel | 643 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1199175072 CA357420536 |
645 | L>R | No |
ClinGen gnomAD |
|
|
CA357420537 rs1578021113 |
646 | A>T | No |
ClinGen Ensembl |
|
|
CA357420542 rs1259928939 |
646 | A>V | No |
ClinGen gnomAD |
|
|
rs1436083603 CA357420545 |
647 | P>T | No |
ClinGen gnomAD |
|
|
rs540388376 CA2954958 |
649 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1478386664 CA357420576 |
652 | T>S | No |
ClinGen gnomAD |
|
|
CA2954961 rs775007084 |
654 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA2954963 rs768582917 |
655 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA357420602 rs1327632938 |
656 | T>A | No |
ClinGen gnomAD |
|
|
rs867804545 CA99467015 |
656 | T>I | No |
ClinGen Ensembl |
|
|
CA357420601 rs1327632938 |
656 | T>P | No |
ClinGen gnomAD |
|
|
CA357420622 rs1462435991 |
658 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
CA357421007 rs1358489961 |
659 | Y>* | No |
ClinGen gnomAD |
|
|
rs1243882659 CA357421014 |
660 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs940999855 CA99468144 |
660 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA2954985 rs772903468 |
664 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1260076232 CA357421049 |
665 | D>E | No |
ClinGen gnomAD |
|
|
CA99468146 rs973682248 |
665 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA357421043 rs973682248 |
665 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs759762835 CA2954986 |
667 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 669 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2954987 rs765571280 |
669 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2954989 COSM195719 rs753028337 |
670 | S>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA357421079 rs1239725774 |
670 | S>T | No |
ClinGen gnomAD |
|
|
CA2954991 rs764309534 |
672 | K>R | No |
ClinGen ExAC gnomAD |
|
|
COSM1057192 COSM1057193 CA357421102 rs1578045563 |
673 | E>G | endometrium [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA2954992 rs752089136 |
673 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA99468148 rs267600241 |
675 | S>L | No |
ClinGen Ensembl |
|
|
CA2954993 rs757730427 |
675 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1180212783 CA357421121 |
676 | K>T | No |
ClinGen gnomAD |
|
|
CA357421133 rs200126485 |
677 | Y>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1331891718 CA357421130 |
677 | Y>C | No |
ClinGen TOPMed |
|
|
CA99468150 rs867102226 |
678 | G>E | No |
ClinGen Ensembl |
|
|
CA2954995 rs750760673 |
678 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1186917103 CA357421144 |
680 | N>H | No |
ClinGen gnomAD |
|
|
rs1384951065 CA357421148 |
680 | N>S | No |
ClinGen gnomAD |
|
|
rs773341183 CA2955000 |
682 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs200499771 CA2955001 |
683 | G>W | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs35891845 CA2955003 |
684 | N>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2955004 rs368541921 |
685 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770917126 CA2955005 |
686 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA2955006 rs775824815 |
687 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763319653 CA2955007 |
688 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2955009 rs774328524 |
692 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774328524 CA99468152 |
692 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1040969189 CA99468151 |
692 | I>V | No |
ClinGen Ensembl |
|
|
CA2955013 rs756462462 |
698 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs750994711 CA2955012 |
698 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1408091752 CA357421267 |
699 | L>F | No |
ClinGen gnomAD |
|
|
CA357421270 rs1224011363 |
699 | L>P | No |
ClinGen TOPMed |
|
|
CA357421278 rs1560562991 |
700 | F>L | No |
ClinGen Ensembl |
|
| TCGA novel | 707 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357421328 rs766766737 |
708 | M>R | No |
ClinGen ExAC gnomAD |
|
|
CA2955014 rs766766737 |
708 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2955015 COSM3826161 rs753466011 COSM3826160 |
709 | A>S | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1305080499 CA357421336 |
709 | A>V | No |
ClinGen gnomAD |
|
|
rs754648234 CA2955016 |
712 | K>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 712 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA917223383 rs1578046095 |
717 | P>QR* | No |
ClinGen Ensembl |
|
|
rs1203574037 CA357421389 |
717 | P>S | No |
ClinGen gnomAD |
|
|
rs747614978 CA2955018 |
721 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1457769324 CA357421425 |
722 | T>I | No |
ClinGen gnomAD |
|
|
CA357420241 rs1430832561 |
728 | S>C | No |
ClinGen gnomAD |
|
|
CA357420247 rs1373623867 |
729 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2955041 rs781070175 |
732 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757296324 CA2955040 |
732 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769685200 CA2955043 |
733 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs745674797 CA2955042 |
733 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1364576628 CA357420284 |
734 | L>F | No |
ClinGen gnomAD |
|
|
CA357420292 rs1426000774 |
736 | I>L | No |
ClinGen TOPMed |
|
|
rs1213323091 CA357420328 |
741 | V>I | No |
ClinGen gnomAD |
|
|
CA357420338 rs1295572952 |
742 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA357420342 rs1306342164 |
743 | D>H | No |
ClinGen gnomAD |
|
|
CA357420351 rs1293430331 |
744 | A>T | No |
ClinGen gnomAD |
|
|
CA2955046 rs772019721 |
744 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA357420359 rs1486757793 |
746 | V>I | No |
ClinGen gnomAD |
|
|
COSM255415 rs760895286 CA2955050 |
748 | V>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1560593238 RCV000722424 CA357420388 |
750 | T>I | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1383523784 CA357420392 |
751 | P>L | No |
ClinGen gnomAD |
|
|
rs752270634 CA2955053 |
754 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1379325859 CA357420449 |
760 | K>Q | No |
ClinGen Ensembl |
|
|
rs1300588462 CA357420642 |
762 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1261195456 CA357420647 |
763 | S>R | No |
ClinGen gnomAD |
|
|
rs1205332620 CA357420657 |
764 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs985734698 CA99472116 |
764 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs766047320 CA2955079 |
765 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357420667 rs571728694 |
766 | R>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2955080 rs571728694 |
766 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1176907910 CA357420668 |
766 | R>Q | No |
ClinGen gnomAD |
|
|
rs758489289 CA2955081 |
767 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA357420674 rs1481630878 |
767 | G>V | No |
ClinGen gnomAD |
|
|
CA2955083 rs150967020 |
770 | V>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150967020 CA2955082 COSM420534 COSM420535 |
770 | V>I | Variant assessed as Somatic; 0.0 impact. central_nervous_system endometrium urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2955085 rs781272521 |
772 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs770342264 CA2955087 |
773 | F>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 774 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357420738 rs1345852402 |
777 | P>S | No |
ClinGen gnomAD |
|
|
CA99472117 rs1045355676 |
778 | W>R | No |
ClinGen TOPMed |
|
|
rs1560595474 CA357420763 |
780 | V>A | No |
ClinGen Ensembl |
|
|
CA357420775 rs1303838630 |
782 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 783 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2955092 rs761601854 |
787 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2955094 rs772806856 |
789 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA357420826 rs1204021591 |
790 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 790 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2955097 rs753776784 |
793 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA2955096 rs766350949 |
793 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs754797105 CA2955098 |
795 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867672529 CA99472119 |
797 | M>I | No |
ClinGen Ensembl |
|
|
CA357420867 rs1244576835 |
797 | M>T | No |
ClinGen TOPMed |
|
|
rs145087134 CA2955099 |
797 | M>V | No |
ClinGen 1000Genomes ESP ExAC gnomAD |
|
|
rs751733804 CA2955100 |
798 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1407731399 CA357420878 |
799 | Q>K | No |
ClinGen gnomAD |
|
|
rs1406439034 CA357420926 |
806 | V>I | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 808 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 808 | R>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA99472120 rs926742764 |
809 | K>R | No |
ClinGen Ensembl |
|
|
rs1254352748 CA357420967 |
811 | H>R | No |
ClinGen gnomAD |
|
| rs749796830 | 814 | K>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA99472122 rs749796830 COSM1540902 COSM1540901 |
814 | K>N | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs757268018 CA99472121 |
814 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757268018 CA2955105 |
814 | K>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188204937 CA357421450 |
816 | G>A | No |
ClinGen TOPMed |
|
|
CA357421446 RCV000723041 rs1259668764 |
816 | G>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs959037549 CA99473502 |
817 | A>T | No |
ClinGen Ensembl |
|
|
CA2955128 rs748535335 |
820 | H>D | No |
ClinGen ExAC |
|
| TCGA novel | 822 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1184818465 CA357421495 |
823 | L>I | No |
ClinGen gnomAD |
|
|
rs1243201660 CA357421529 |
828 | I>V | No |
ClinGen gnomAD |
|
|
CA2955131 rs746679122 |
832 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA2955130 rs777477339 |
832 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 836 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 838 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759402925 CA2955134 |
838 | L>V | No |
ClinGen ExAC |
|
|
rs1456636968 CA357421604 |
839 | P>L | No |
ClinGen gnomAD |
|
|
CA357421658 rs1312234984 |
847 | I>M | No |
ClinGen gnomAD |
|
|
CA357421699 rs933523828 |
853 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
CA99473504 rs369743555 |
853 | D>N | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 854 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2955140 rs760825786 |
861 | T>N | No |
ClinGen ExAC gnomAD |
|
|
CA357421758 rs760825786 |
861 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1254933250 CA357421795 |
867 | Q>R | No |
ClinGen gnomAD |
|
|
rs753968353 CA2955142 |
868 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 869 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1472151671 CA357421832 |
873 | V>L | No |
ClinGen gnomAD |
|
|
rs1176990490 CA357421841 |
874 | R>M | No |
ClinGen gnomAD |
|
| TCGA novel | 878 | V>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1578163191 CA357421902 |
881 | T>I | No |
ClinGen Ensembl |
|
|
CA2955166 rs753232968 |
885 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA2955165 rs753232968 |
885 | I>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 886 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1560609764 CA357421932 RCV000723050 |
886 | L>P | No |
ClinGen ClinVar Ensembl dbSNP |
|
| TCGA novel | 893 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357421992 rs1386692701 |
896 | I>L | No |
ClinGen gnomAD |
|
|
CA357422003 rs1578163302 |
897 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 898 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1206808374 CA357422123 |
905 | L>F | No |
ClinGen gnomAD |
|
|
rs962456349 CA99474436 |
906 | Y>F | No |
ClinGen TOPMed |
|
|
rs962456349 CA357422132 |
906 | Y>S | No |
ClinGen TOPMed |
|
|
rs1056518545 CA99474437 |
909 | F>C | No |
ClinGen TOPMed |
|
|
rs896584057 CA99474438 |
910 | L>M | No |
ClinGen TOPMed |
|
|
CA99474439 rs112816784 |
911 | Y>C | No |
ClinGen gnomAD |
|
|
CA357422172 rs1560617287 |
912 | M>I | No |
ClinGen Ensembl |
|
|
rs1456255767 CA357422168 |
912 | M>V | No |
ClinGen gnomAD |
|
|
CA357422181 rs1185589463 |
914 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA357422183 rs1185589463 |
914 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2955194 rs778710148 |
915 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA357422200 rs1423557409 |
917 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA357422222 rs1299649328 |
920 | V>A | No |
ClinGen gnomAD |
|
|
CA357422281 rs1375179516 |
927 | K>Q | No |
ClinGen gnomAD |
|
|
rs372090327 CA2955219 |
930 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2955222 rs371466311 |
940 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 942 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1288032 COSM1288031 rs762155173 CA2955223 |
943 | R>H | ovary Variant assessed as Somatic; 0.0 impact. autonomic_ganglia [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1057195 CA2955225 rs772578212 COSM1057194 |
948 | R>C | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA2955226 rs772578212 |
948 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761021368 CA2955227 |
948 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761021368 CA357422421 |
948 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA99474682 rs140006352 |
950 | V>I | No |
ClinGen ESP |
|
|
rs376441084 CA99474683 |
956 | L>V | No |
ClinGen Ensembl |
|
|
rs376039922 CA2955230 |
961 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA99474685 rs112893531 |
962 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 962 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357422515 rs1171406612 |
963 | L>R | No |
ClinGen gnomAD |
|
|
rs1355390771 CA357422532 |
966 | I>V | No |
ClinGen TOPMed |
|
|
CA2955231 rs764612723 |
967 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA357422562 rs1413422933 |
970 | T>M | No |
ClinGen gnomAD |
|
|
CA357422585 rs1307153292 |
974 | I>S | No |
ClinGen gnomAD |
|
|
CA357422603 rs1406687998 |
977 | P>S | No |
ClinGen gnomAD |
|
|
CA357422646 rs1447130617 |
981 | L>S | No |
ClinGen gnomAD |
|
|
rs1191238009 CA357422666 |
984 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 989 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2955257 rs750242447 |
990 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1385516668 CA357422742 |
995 | S>C | No |
ClinGen gnomAD |
|
|
rs1560622479 CA357422749 |
996 | Q>R | No |
ClinGen Ensembl |
|
|
rs1235965886 CA357422761 |
998 | D>N | No |
ClinGen TOPMed |
|
|
rs1322471938 CA357422875 |
1013 | K>R | No |
ClinGen gnomAD |
|
|
CA2955263 rs758449153 |
1019 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1020 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1463203634 CA357422935 |
1021 | K>E | No |
ClinGen Ensembl |
|
|
CA2955264 rs552492720 |
1021 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA99474892 rs552492720 |
1021 | K>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1022 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2955265 rs564384504 |
1025 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA357422969 rs1242941437 |
1026 | S>R | No |
ClinGen gnomAD |
|
|
rs1300732605 CA357422979 |
1027 | L>Q | No |
ClinGen TOPMed |
|
| TCGA novel | 1028 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA357423004 rs1225906931 |
1030 | D>E | No |
ClinGen gnomAD |
|
|
CA357423002 rs1351928450 |
1030 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA2955268 rs777062616 |
1031 | N>Y | No |
ClinGen ExAC |
|
|
rs1379370886 CA357423043 |
1034 | S>A | No |
ClinGen gnomAD |
|
|
rs748686762 CA99475265 |
1035 | D>E | No |
ClinGen Ensembl |
|
|
CA357423056 rs1448705714 |
1036 | C>R | No |
ClinGen gnomAD |
|
|
CA357423067 rs1172176959 |
1037 | P>L | No |
ClinGen gnomAD |
|
|
CA357423064 rs1464618334 |
1037 | P>S | No |
ClinGen gnomAD |
|
|
CA2955285 rs757348416 |
1038 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
CA2955286 rs781702911 |
1039 | S>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770149956 CA2955288 |
1041 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs780599990 CA2955289 |
1041 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA2955291 rs748878877 |
1042 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA2955290 rs748878877 |
1042 | V>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1042 | V>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1043 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2955293 rs150809470 |
1049 | M>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs944434214 CA99475266 |
1050 | D>G | No |
ClinGen TOPMed |
|
|
rs1334955224 CA357423168 |
1052 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs771525234 CA2955294 |
1054 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2955295 rs773181809 |
1054 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs375680237 CA357423196 |
1056 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2955296 rs375680237 |
1056 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375680237 CA357423197 |
1056 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA99475267 rs766123877 |
1057 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs994393227 CA99475268 |
1059 | S>I | No |
ClinGen Ensembl |
|
|
rs1269398719 CA357423217 |
1060 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1269398719 CA357423219 |
1060 | D>Y | No |
ClinGen gnomAD |
|
|
rs1291214865 CA357423226 |
1061 | S>G | No |
ClinGen gnomAD |
|
|
CA357423243 rs1560626335 |
1063 | P>L | No |
ClinGen Ensembl |
|
|
rs536244068 CA2955299 |
1063 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1373778642 CA357423251 |
1064 | S>F | No |
ClinGen gnomAD |
|
|
rs952392815 CA99475269 |
1066 | R>G | No |
ClinGen Ensembl |
|
|
CA357423282 rs1349642570 |
1067 | E>G | No |
ClinGen gnomAD |
|
|
CA357423280 rs1485904286 |
1067 | E>K | No |
ClinGen TOPMed |
|
|
CA99475623 rs898826029 |
1068 | R>G | No |
ClinGen TOPMed |
|
|
rs1289967903 CA357423290 |
1068 | R>K | No |
ClinGen gnomAD |
|
|
CA357423295 rs1388648594 |
1068 | R>S | No |
ClinGen gnomAD |
|
|
CA2955315 rs542016635 |
1071 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745768466 CA357423315 |
1071 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745768466 CA2955317 |
1071 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs542016635 CA2955316 |
1071 | T>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs745768466 CA357423314 |
1071 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1072 | F>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776616025 CA2955319 |
1072 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA357423328 rs1292182758 |
1073 | L>F | No |
ClinGen TOPMed |
|
|
rs1246752028 CA357423329 |
1073 | L>H | No |
ClinGen TOPMed |
|
|
rs759294648 CA2955320 |
1074 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA2955321 COSM315346 rs149938502 |
1075 | R>C | lung [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1243900867 CA357423345 |
1075 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1243900867 CA357423347 |
1075 | R>L | No |
ClinGen TOPMed gnomAD |
No associated diseases with Q9Y6R1
No regional properties for Q9Y6R1
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q9Y6R1 | |||
6 GO annotations of cellular component
| Name | Definition |
|---|---|
| basolateral plasma membrane | The region of the plasma membrane that includes the basal end and sides of the cell. Often used in reference to animal polarized epithelial membranes, where the basal membrane is the part attached to the extracellular matrix, or in plant cells, where the basal membrane is defined with respect to the zygotic axis. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| extracellular exosome | A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm. |
| integral component of plasma membrane | The component of the plasma membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
| membrane | A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
5 GO annotations of molecular function
| Name | Definition |
|---|---|
| identical protein binding | Binding to an identical protein or proteins. |
| sodium:bicarbonate symporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: Na+(out) + HCO3-(out) = Na+(in) + HCO3-(in). |
| solute:inorganic anion antiporter activity | Enables the transfer of a solute or solutes from one side of a membrane to the other according to the reaction: inorganic anion(out) + solute(in) = inorganic anion (in) + solute(out). |
| symporter activity | Enables the active transport of a solute across a membrane by a mechanism whereby two or more species are transported together in the same direction in a tightly coupled process not directly linked to a form of energy other than chemiosmotic energy. |
| transmembrane transporter activity | Enables the transfer of a substance, usually a specific substance or a group of related substances, from one side of a membrane to the other. |
10 GO annotations of biological process
| Name | Definition |
|---|---|
| bicarbonate transport | The directed movement of bicarbonate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| ion homeostasis | Any process involved in the maintenance of an internal steady state of ions within an organism or cell. |
| positive regulation of glycolytic process | Any process that activates or increases the frequency, rate or extent of glycolysis. |
| regulation of intracellular pH | Any process that modulates the internal pH of a cell, measured by the concentration of the hydrogen ion. |
| regulation of membrane potential | Any process that modulates the establishment or extent of a membrane potential, the electric potential existing across any membrane arising from charges in the membrane itself and from the charges present in the media on either side of the membrane. |
| sodium ion export across plasma membrane | The directed movement of sodium ions from inside of a cell, across the plasma membrane and into the extracellular region. |
| sodium ion transmembrane transport | A process in which a sodium ion is transported from one side of a membrane to the other by means of some agent such as a transporter or pore. |
| sodium ion transport | The directed movement of sodium ions (Na+) into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| 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. |
24 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q32LP4 | SLC4A10 | Sodium-driven chloride bicarbonate exchanger | Bos taurus (Bovine) | PR |
| Q9GL77 | SLC4A4 | Electrogenic sodium bicarbonate cotransporter 1 | Bos taurus (Bovine) | PR |
| Q8NBS3 | SLC4A11 | Solute carrier family 4 member 11 | Homo sapiens (Human) | PR |
| Q9Y6M7 | SLC4A7 | Sodium bicarbonate cotransporter 3 | Homo sapiens (Human) | PR |
| Q6U841 | SLC4A10 | Sodium-driven chloride bicarbonate exchanger | Homo sapiens (Human) | PR |
| Q2Y0W8 | SLC4A8 | Electroneutral sodium bicarbonate exchanger 1 | Homo sapiens (Human) | PR |
| P02730 | SLC4A1 | Band 3 anion transport protein | Homo sapiens (Human) | PR |
| P04920 | SLC4A2 | Anion exchange protein 2 | Homo sapiens (Human) | PR |
| P04919 | Slc4a1 | Band 3 anion transport protein | Mus musculus (Mouse) | PR |
| Q8JZR6 | Slc4a8 | Electroneutral sodium bicarbonate exchanger 1 | Mus musculus (Mouse) | PR |
| Q8BTY2 | Slc4a7 | Sodium bicarbonate cotransporter 3 | Mus musculus (Mouse) | PR |
| P13808 | Slc4a2 | Anion exchange protein 2 | Mus musculus (Mouse) | PR |
| A2AJN7 | Slc4a11 | Solute carrier family 4 member 11 | Mus musculus (Mouse) | PR |
| Q5DTL9 | Slc4a10 | Sodium-driven chloride bicarbonate exchanger | Mus musculus (Mouse) | PR |
| P16283 | Slc4a3 | Anion exchange protein 3 | Mus musculus (Mouse) | PR |
| O88343 | Slc4a4 | Electrogenic sodium bicarbonate cotransporter 1 | Mus musculus (Mouse) | PR |
| Q4U116 | SLC4A4 | Electrogenic sodium bicarbonate cotransporter 1 | Sus scrofa (Pig) | PR |
| Q9R1N3 | Slc4a7 | Sodium bicarbonate cotransporter 3 | Rattus norvegicus (Rat) | PR |
| Q80ZA5 | Slc4a10 | Sodium-driven chloride bicarbonate exchanger | Rattus norvegicus (Rat) | PR |
| Q9JI66 | Slc4a4 | Electrogenic sodium bicarbonate cotransporter 1 | Rattus norvegicus (Rat) | PR |
| Q3E954 | BOR6 | Probable boron transporter 6 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9M1P7 | BOR2 | Probable boron transporter 2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9SUU1 | BOR7 | Probable boron transporter 7 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8VYR7 | BOR1 | Boron transporter 1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MEDEAVLDRG | ASFLKHVCDE | EEVEGHHTIY | IGVHVPKSYR | RRRRHKRKTG | HKEKKEKERI |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SENYSDKSDI | ENADESSSSI | LKPLISPAAE | RIRFILGEED | DSPAPPQLFT | ELDELLAVDG |
| 130 | 140 | 150 | 160 | 170 | 180 |
| QEMEWKETAR | WIKFEEKVEQ | GGERWSKPHV | ATLSLHSLFE | LRTCMEKGSI | MLDREASSLP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| QLVEMIVDHQ | IETGLLKPEL | KDKVTYTLLR | KHRHQTKKSN | LRSLADIGKT | VSSASRMFTN |
| 250 | 260 | 270 | 280 | 290 | 300 |
| PDNGSPAMTH | RNLTSSSLND | ISDKPEKDQL | KNKFMKKLPR | DAEASNVLVG | EVDFLDTPFI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| AFVRLQQAVM | LGALTEVPVP | TRFLFILLGP | KGKAKSYHEI | GRAIATLMSD | EVFHDIAYKA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| KDRHDLIAGI | DEFLDEVIVL | PPGEWDPAIR | IEPPKSLPSS | DKRKNMYSGG | ENVQMNGDTP |
| 430 | 440 | 450 | 460 | 470 | 480 |
| HDGGHGGGGH | GDCEELQRTG | RFCGGLIKDI | KRKAPFFASD | FYDALNIQAL | SAILFIYLAT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| VTNAITFGGL | LGDATDNMQG | VLESFLGTAV | SGAIFCLFAG | QPLTILSSTG | PVLVFERLLF |
| 550 | 560 | 570 | 580 | 590 | 600 |
| NFSKDNNFDY | LEFRLWIGLW | SAFLCLILVA | TDASFLVQYF | TRFTEEGFSS | LISFIFIYDA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FKKMIKLADY | YPINSNFKVG | YNTLFSCTCV | PPDPANISIS | NDTTLAPEYL | PTMSSTDMYH |
| 670 | 680 | 690 | 700 | 710 | 720 |
| NTTFDWAFLS | KKECSKYGGN | LVGNNCNFVP | DITLMSFILF | LGTYTSSMAL | KKFKTSPYFP |
| 730 | 740 | 750 | 760 | 770 | 780 |
| TTARKLISDF | AIILSILIFC | VIDALVGVDT | PKLIVPSEFK | PTSPNRGWFV | PPFGENPWWV |
| 790 | 800 | 810 | 820 | 830 | 840 |
| CLAAAIPALL | VTILIFMDQQ | ITAVIVNRKE | HKLKKGAGYH | LDLFWVAILM | VICSLMALPW |
| 850 | 860 | 870 | 880 | 890 | 900 |
| YVAATVISIA | HIDSLKMETE | TSAPGEQPKF | LGVREQRVTG | TLVFILTGLS | VFMAPILKFI |
| 910 | 920 | 930 | 940 | 950 | 960 |
| PMPVLYGVFL | YMGVASLNGV | QFMDRLKLLL | MPLKHQPDFI | YLRHVPLRRV | HLFTFLQVLC |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| LALLWILKST | VAAIIFPVMI | LALVAVRKGM | DYLFSQHDLS | FLDDVIPEKD | KKKKEDEKKK |
| 1030 | 1040 | 1050 | 1060 | 1070 | |
| KKKKGSLDSD | NDDSDCPYSE | KVPSIKIPMD | IMEQQPFLSD | SKPSDRERSP | TFLERHTSC |