Q8TDI8
PR
Gene name |
TMC1 |
Protein name |
Transmembrane channel-like protein 1 |
Names |
Transmembrane cochlear-expressed protein 1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:117531 |
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
1 structures for Q8TDI8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q8TDI8-F1 | Predicted | AlphaFoldDB |
647 variants for Q8TDI8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000225071 rs878853229 |
6 | V>missing | Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000155718 rs727504554 |
8 | I>missing | Rare genetic deafness [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001166568 RCV001358325 RCV001166567 rs140437301 CA5081583 RCV001195528 |
16 | E>K | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 Variant assessed as Somatic; 0.0001391 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs121908073 RCV000211859 CA253002 RCV001291357 RCV000756783 RCV000004319 |
34 | R>* | Variant assessed as Somatic; 0.0 impact. Hearing loss, autosomal recessive Autosomal recessive nonsyndromic hearing loss 7 Rare genetic deafness [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA142057 RCV000041131 RCV001807767 RCV001166569 RCV001166570 rs149947445 |
49 | I>L | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs730880359 RCV000156220 |
74 | R>missing | Rare genetic deafness [ClinVar] | Yes |
ClinVar dbSNP |
|
rs878853230 RCV000225099 |
77 | R>missing | Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_052333 CA142071 RCV000371206 rs1796993 RCV002054802 RCV000041139 RCV000314308 |
81 | E>K | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000344685 RCV000392033 RCV000041140 rs376040866 RCV001575375 |
83 | E>missing | Nonsyndromic Hearing Loss, Dominant Nonsyndromic Hearing Loss, Recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
CA142075 rs397517840 RCV001168316 RCV000041141 RCV001588860 RCV001168317 |
113 | M>I | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5081655 RCV001168319 rs377607548 RCV000658001 RCV001168318 |
125 | K>Q | Autosomal dominant nonsyndromic hearing loss 36 Variant assessed as Somatic; 0.0 impact. Autosomal recessive nonsyndromic hearing loss 7 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
VAR_052334 RCV000954948 RCV000041143 RCV000274209 RCV000313087 rs11143384 CA142079 |
141 | R>W | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002523801 RCV000993333 rs148340276 CA5081692 RCV000356134 RCV000259345 |
158 | R>H | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 Variant assessed as Somatic; 4.622e-05 impact. Inborn genetic diseases [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1564530932 RCV000778888 |
198 | V>missing | TMC1-Related Disorders [ClinVar] | Yes |
ClinVar dbSNP |
|
CA5081724 RCV001291358 rs756960425 RCV000785601 |
199 | N>I | Hearing loss, autosomal recessive Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000477752 rs781747541 CA5081731 |
208 | S>R | Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA261929 RCV002513572 RCV000041146 rs370088722 |
225 | P>L | Rare genetic deafness [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs200831684 RCV000378595 CA5081762 RCV000316961 RCV001584100 |
235 | A>S | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA142085 rs111033497 RCV000041147 RCV001169054 RCV001169053 |
254 | V>I | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1008565149 CA10633926 RCV000289948 RCV000377451 |
304 | G>R | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000347264 CA5081830 CA373504413 RCV000381063 RCV000514897 rs113342704 |
308 | D>E | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000477846 rs1060499599 CA16616911 |
313 | F>S | Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA373504489 RCV001291359 RCV000679844 rs1564554255 |
315 | W>* | Deafness Hearing loss, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000271834 RCV002494874 CA5081835 rs142629075 |
319 | T>S | Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001166151 rs1481117336 CA373504562 RCV001166150 |
326 | G>S | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002518208 CA5081847 RCV002518209 RCV000223470 rs771281791 |
340 | M>V | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000778151 rs367924428 CA5081875 RCV001291360 RCV000268431 |
372 | V>M | Hearing loss, autosomal recessive Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001291361 rs757327146 RCV000681552 CA373504945 CA5081883 |
381 | Y>* | Hearing loss, autosomal recessive Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ExAC TOPMed gnomAD ClinVar dbSNP |
|
RCV000215864 RCV000416069 CA5081882 rs749491943 RCV001197463 |
381 | Y>N | Autosomal recessive nonsyndromic hearing loss 7 Rare genetic deafness [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000596838 RCV000041126 rs151001642 CA261926 |
389 | R>* | Rare genetic deafness [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001197257 rs1271495869 |
401 | L>I | Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000679842 RCV001291362 CA373505103 TCGA novel rs773851192 |
403 | W>* | Deafness Hearing loss, autosomal recessive Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD NCI-TCGA |
|
rs1564555185 RCV000681545 |
407 | N>missing | Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV000413125 rs876657727 RCV000217598 RCV001824690 |
413 | M>missing | Autosomal recessive nonsyndromic hearing loss 7 Rare genetic deafness [ClinVar] | Yes |
ClinVar dbSNP |
|
CA273817 RCV000162325 rs786201027 |
418 | M>K | Autosomal dominant nonsyndromic hearing loss 36 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1564556995 RCV000761610 CA373505922 RCV001291364 |
420 | C>Y | Hearing loss, autosomal recessive Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001166638 rs372710475 RCV001291365 RCV000407406 COSM2154745 RCV000778889 RCV000155854 CA273577 |
445 | R>C | Autosomal dominant nonsyndromic hearing loss 36 central_nervous_system Hearing loss, autosomal recessive Autosomal recessive nonsyndromic hearing loss 7 Rare genetic deafness [ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1828278868 RCV001291366 |
455 | Y>H | Hearing loss, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001166639 RCV001166640 rs993650641 |
473 | K>Q | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs17058153 RCV000041130 VAR_052335 CA142055 RCV000288900 RCV000350979 RCV000993331 |
486 | M>T | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001808419 RCV000152038 CA178210 rs727503483 |
511 | P>H | Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA16609566 RCV000454230 rs727503483 |
511 | P>L | Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000004323 RCV001291367 CA253007 rs121908076 |
515 | C>R | Hearing loss, autosomal recessive Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5081996 RCV001166641 rs759289124 RCV001168380 |
532 | V>I | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000297440 RCV000356923 rs150206751 RCV002524603 CA5081998 |
537 | V>I | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001288079 rs876657728 CA10576754 RCV000219905 |
559 | W>* | Rare genetic deafness [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000214242 rs876657729 RCV002517527 CA10576755 |
559 | W>* | Rare genetic deafness [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5082048 RCV001168382 RCV001168381 rs369890353 RCV000999171 RCV001195529 |
570 | E>K | Autosomal dominant nonsyndromic hearing loss 36 Variant assessed as Somatic; 0.0 impact. Autosomal recessive nonsyndromic hearing loss 7 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs121908072 CA253005 RCV000004321 |
572 | D>H | Autosomal dominant nonsyndromic hearing loss 36 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000217542 COSM1462918 CA253001 RCV000004318 rs121908072 RCV001810830 VAR_014125 |
572 | D>N | Autosomal dominant nonsyndromic hearing loss 36 large_intestine Variant assessed as Somatic; impact. Rare genetic deafness DFNA36 [ClinVar, Cosmic, NCI-TCGA, UniProt] | Yes |
ClinGen cosmic curated ClinVar UniProt Ensembl NCI-TCGA dbSNP |
|
CA373668346 rs761261855 RCV000679843 RCV001291368 |
576 | N>K | Deafness Hearing loss, autosomal recessive [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1828785763 RCV001291478 |
585 | G>missing | Hearing loss, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1290684098 RCV001291479 |
596 | S>R | Hearing loss, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001291480 rs777777359 CA5082077 COSM1229448 |
604 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine Hearing loss, autosomal recessive [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV000225028 RCV001782704 rs138527651 RCV000221167 CA5082097 |
647 | S>P | Autosomal recessive nonsyndromic hearing loss 7 Rare genetic deafness [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
CA253004 VAR_014126 rs121908074 RCV000004320 |
654 | M>V | Autosomal recessive nonsyndromic hearing loss 7 DFNB7 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
rs1828864557 RCV001328470 |
668 | S>G | Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001169133 RCV001169134 rs1828964954 |
671 | N>D | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1828965654 RCV001291481 |
679 | E>K | Hearing loss, autosomal recessive [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001723626 RCV002490577 RCV001169138 rs41310067 RCV000041138 RCV001169137 CA142069 |
715 | Y>F | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1588105861 RCV000988186 CA373675060 |
721 | K>N | Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs573874378 CA5082169 RCV001169139 RCV001166206 RCV000729982 |
726 | A>V | Autosomal dominant nonsyndromic hearing loss 36 Variant assessed as Somatic; 0.0 impact. Autosomal recessive nonsyndromic hearing loss 7 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000382265 rs1057515624 RCV000322877 CA10633932 |
735 | K>T | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA373675541 rs1564583413 RCV000770876 |
740 | E>* | Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001859076 rs139102393 RCV001166207 CA5082202 RCV001166208 |
749 | A>S | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001253923 CA5082276 RCV001166209 rs142073640 RCV002514317 |
759 | R>C | Autosomal dominant nonsyndromic hearing loss 36 Variant assessed as Somatic; 0.0 impact. Autosomal recessive nonsyndromic hearing loss 7 [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001166210 rs765191961 CA5082278 RCV001166709 |
759 | R>H | Autosomal dominant nonsyndromic hearing loss 36 Autosomal recessive nonsyndromic hearing loss 7 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000156234 rs569626109 CA184431 |
3 | P>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs922432583 CA193326960 |
4 | K>Q | No |
ClinGen TOPMed |
|
|
CA5081554 rs145050019 |
4 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766655548 CA5081555 |
5 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751771334 CA5081556 |
6 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA373723144 rs1240634356 |
7 | Q>R | No |
ClinGen gnomAD |
|
|
rs372383725 CA5081580 |
8 | I>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1287826699 CA373723148 |
8 | I>V | No |
ClinGen gnomAD |
|
|
CA5081581 rs757765718 |
11 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1256139209 CA373723179 |
12 | E>K | No |
ClinGen gnomAD |
|
|
CA373723206 rs1483956051 |
14 | E>Q | No |
ClinGen gnomAD |
|
|
CA373723228 rs779209726 |
15 | D>A | No |
ClinGen ExAC gnomAD |
|
|
CA373723234 rs2589615 |
15 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs779209726 CA5081582 |
15 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs776220877 CA5081584 |
18 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1588032894 CA373723296 |
19 | E>D | No |
ClinGen Ensembl |
|
|
CA373723293 rs1378821340 |
19 | E>V | No |
ClinGen TOPMed gnomAD |
|
|
rs189479995 CA193341194 |
20 | S>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs189479995 CA5081585 |
20 | S>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5081586 rs144387828 |
22 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA193341223 rs144387828 |
22 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1564495681 CA373723617 |
22 | S>N | No |
ClinGen Ensembl |
|
|
rs1317983939 CA373723626 |
23 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1256718391 CA373723642 |
25 | E>G | No |
ClinGen gnomAD |
|
|
rs1286247872 CA373723640 |
25 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs777217789 CA5081604 |
27 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1487669194 CA373723666 |
28 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA5081607 rs367993839 |
30 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373723700 rs1168576676 |
33 | P>H | No |
ClinGen gnomAD |
|
|
rs753977925 CA5081608 |
34 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA5081611 rs572854741 |
44 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs775411731 CA5081610 |
44 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753879286 CA5081613 |
46 | R>I | No |
ClinGen ExAC TOPMed |
|
|
CA5081614 rs140388347 RCV000041129 CA142053 RCV001561443 |
47 | D>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD ClinVar dbSNP |
|
| TCGA novel | 47 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs562374634 CA5081615 |
48 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1003275832 CA193345746 |
50 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1292549270 CA373723813 |
51 | E>G | No |
ClinGen gnomAD |
|
|
CA373723810 rs1446131992 |
51 | E>K | No |
ClinGen TOPMed |
|
|
rs1185774277 CA373723820 |
52 | D>G | No |
ClinGen TOPMed |
|
|
CA373723817 rs1033828130 |
52 | D>H | No |
ClinGen gnomAD |
|
|
CA193345749 rs1033828130 |
52 | D>N | No |
ClinGen gnomAD |
|
|
rs1222130340 CA373723831 |
53 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs780458439 CA5081616 |
54 | P>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 60 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755733171 CA5081618 |
61 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373723888 rs1241564328 |
62 | E>K | No |
ClinGen gnomAD |
|
|
CA373723899 rs1291189248 |
63 | T>K | No |
ClinGen TOPMed |
|
|
CA5081619 rs145098032 |
65 | K>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5081620 rs551184500 |
66 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1415801221 CA373723924 |
67 | R>T | No |
ClinGen gnomAD |
|
|
rs564668916 CA5081621 |
68 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1293692474 CA373723946 |
70 | E>A | No |
ClinGen TOPMed |
|
|
rs779134204 CA193345801 |
71 | R>G | No |
ClinGen gnomAD |
|
|
rs1360787887 CA373723953 |
71 | R>T | No |
ClinGen gnomAD |
|
|
CA373723959 rs1381809026 |
72 | R>K | No |
ClinGen TOPMed |
|
|
rs1369129879 CA373723966 |
73 | R>K | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 73 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778543840 CA5081622 |
76 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs140482278 CA5081623 |
79 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs140482278 CA5081624 |
79 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA193350282 rs145647775 |
80 | E>K | No |
ClinGen ESP gnomAD |
|
|
CA5081635 rs536350054 |
81 | E>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1796993 CA373724387 |
81 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1295277804 CA373724403 |
83 | E>* | No |
ClinGen gnomAD |
|
|
CA373724430 rs1414578604 |
86 | E>D | No |
ClinGen gnomAD |
|
|
rs1588038557 CA373724428 |
86 | E>G | No |
ClinGen Ensembl |
|
|
rs1335567171 CA373724489 |
94 | A>V | No |
ClinGen gnomAD |
|
|
rs767739170 CA5081636 |
98 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs997556103 CA193350313 |
99 | K>* | No |
ClinGen Ensembl |
|
|
CA373724556 rs1564499726 |
103 | I>M | No |
ClinGen Ensembl |
|
|
rs1310537268 CA373724558 |
104 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA373724559 rs1310537268 |
104 | A>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 104 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373724567 rs1391244700 |
105 | T>I | No |
ClinGen TOPMed |
|
|
rs753572224 CA5081637 |
106 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA373724607 rs1345926328 |
111 | W>* | No |
ClinGen gnomAD |
|
|
CA5081638 rs756957433 |
111 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA193350337 rs1030083514 |
112 | K>N | No |
ClinGen Ensembl |
|
|
rs778631855 CA5081639 |
113 | M>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 114 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1222930328 CA373724640 |
115 | K>N | No |
ClinGen gnomAD |
|
|
rs758421299 CA5081640 |
117 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1439351996 CA373724658 |
118 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA193350367 rs368673178 |
121 | K>R | No |
ClinGen ESP gnomAD |
|
|
rs1451893116 CA373494601 |
124 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1345315143 CA373494599 |
124 | K>R | No |
ClinGen gnomAD |
|
|
rs745767539 TCGA novel |
125 | K>N | Variant assessed as Somatic; 0.0 impact. Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752998493 CA5081656 |
126 | F>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 126 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1417764398 CA373494617 |
127 | V>M | No |
ClinGen TOPMed |
|
|
CA5081657 rs372983741 |
128 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749978207 CA5081659 |
129 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA373494707 rs1420666696 |
134 | L>P | No |
ClinGen TOPMed |
|
|
RCV000041142 CA142077 rs397517841 |
135 | G>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 136 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373494812 rs1345080270 |
141 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA373494810 rs1345080270 |
141 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs1009151028 CA193278425 |
142 | W>* | No |
ClinGen Ensembl |
|
|
CA373494834 rs1281097211 |
142 | W>* | No |
ClinGen TOPMed |
|
|
rs1318519289 CA373494840 |
143 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 146 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5081662 rs781112060 |
147 | M>T | No |
ClinGen ExAC |
|
|
rs1280151309 COSM1625076 CA373494905 |
147 | M>V | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1364363141 CA373494937 |
148 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1241260590 CA373494966 |
149 | M>I | No |
ClinGen TOPMed |
|
|
rs1048509958 CA193278439 |
149 | M>T | No |
ClinGen TOPMed |
|
|
RCV000606120 CA5081663 rs534560340 |
150 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA373495238 rs1446953320 |
153 | W>* | No |
ClinGen gnomAD |
|
|
CA5081688 rs145102585 |
154 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371485372 CA193279398 |
154 | A>V | No |
ClinGen 1000Genomes gnomAD |
|
|
rs761235546 CA5081690 |
156 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA5081691 RCV001764721 rs200841002 RCV000602711 |
158 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA373495300 rs1303450782 |
159 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1257498319 CA373495303 |
160 | F>I | No |
ClinGen TOPMed |
|
|
CA373495331 rs1485114057 |
163 | F>S | No |
ClinGen TOPMed |
|
|
rs762736726 CA5081693 |
165 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5081694 rs765885670 COSM164950 |
166 | A>V | NS large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
| TCGA novel | 168 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs796412699 CA193279423 |
168 | V>I | No |
ClinGen gnomAD |
|
|
rs752678337 CA5081698 |
170 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1564525592 CA373495535 |
175 | K>N | No |
ClinGen Ensembl |
|
|
rs747645067 CA193279443 RCV001027644 |
177 | I>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA5081699 rs756028904 |
177 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs886042321 CA10604080 RCV000406173 |
178 | E>D | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
RCV000825470 CA373495565 rs1588060117 |
178 | E>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs770640925 CA5081716 |
179 | S>N | No |
ClinGen ExAC gnomAD |
|
|
RCV000825471 rs989635871 CA193283629 |
181 | F>L | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA373497491 rs199560971 |
182 | G>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199560971 CA5081718 |
182 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5081717 rs773838098 |
182 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs199560971 CA373497492 |
182 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 183 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373497534 rs1564530897 |
185 | V>A | No |
ClinGen Ensembl |
|
|
CA373497545 rs727504470 |
186 | A>D | No |
ClinGen ExAC gnomAD |
|
|
RCV000155596 CA183106 rs727504470 |
186 | A>G | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5081720 rs774972622 |
186 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA5081721 rs727504470 |
186 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA373497580 rs1178631956 |
188 | Y>* | No |
ClinGen TOPMed |
|
|
rs1417706013 CA373497588 |
189 | F>V | No |
ClinGen TOPMed |
|
|
CA373497610 rs1410437012 |
190 | L>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 190 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373497626 rs1182519815 |
191 | F>S | No |
ClinGen TOPMed |
|
|
rs865985561 CA193283655 |
194 | W>* | No |
ClinGen Ensembl |
|
|
rs1172357346 CA373497671 RCV000760453 |
194 | W>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs1172357346 CA373497676 |
194 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
rs368246679 CA5081722 |
195 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA193283660 rs1042818751 |
196 | Y>C | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 197 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5081723 rs753687760 |
197 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs756960425 CA5081725 |
199 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750662616 CA5081726 |
200 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs1257701032 CA373497759 |
200 | M>V | No |
ClinGen TOPMed |
|
|
CA5081728 rs780348810 |
202 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA5081730 rs368042336 |
207 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1352384353 CA373497820 |
209 | L>F | No |
ClinGen TOPMed |
|
|
CA5081733 rs565926145 |
210 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5081734 rs773609760 |
211 | M>R | No |
ClinGen ExAC |
|
|
rs745569653 RCV000615974 CA5081735 |
213 | P>S | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs1564531010 CA373497851 |
214 | E>Q | No |
ClinGen Ensembl |
|
|
CA193284969 rs964315149 |
215 | Y>* | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 217 | W>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs150896910 CA5081752 |
217 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5081753 rs749608265 |
219 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 220 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5081754 rs771735027 |
220 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs533159785 CA5081756 |
221 | Y>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779639998 CA5081755 |
221 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1345433244 CA373498390 |
222 | G>D | No |
ClinGen TOPMed |
|
|
rs776193666 CA5081757 |
226 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1410624760 CA373498473 |
228 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
CA5081758 rs201827013 |
229 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 232 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5081760 COSM1701156 rs373537563 |
233 | E>K | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5081763 rs751873680 |
236 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767557406 CA5081765 |
239 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs752751599 CA5081766 |
241 | G>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 243 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1469818234 CA373498677 |
245 | D>N | No |
ClinGen gnomAD |
|
|
CA5081768 rs778293772 |
246 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA373498697 rs549050367 |
247 | N>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs549050367 CA5081769 |
247 | N>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs750724247 CA193292473 |
249 | L>M | No |
ClinGen Ensembl |
|
|
rs1588076085 CA373502638 |
250 | A>V | No |
ClinGen Ensembl |
|
|
rs1397983606 CA373502680 |
253 | S>P | No |
ClinGen TOPMed |
|
|
rs375919123 CA5081785 |
254 | V>A | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373502757 rs1281425584 |
257 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1343605167 CA373502770 |
258 | G>S | No |
ClinGen gnomAD |
|
|
CA373502811 rs727503482 |
259 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA373502806 rs1484217328 |
259 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs764050135 CA5081786 |
259 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373502789 rs764050135 |
259 | Y>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373502819 rs1588076103 |
260 | Y>N | No |
ClinGen Ensembl |
|
|
rs1193821979 CA373502847 |
261 | D>A | No |
ClinGen gnomAD |
|
| TCGA novel | 263 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765657443 CA5081789 |
264 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs147147941 CA142087 RCV000041148 |
264 | R>P | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs147147941 CA5081790 |
264 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs747645756 CA5081793 |
266 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs536753857 CA5081792 |
266 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM1554835 CA373502967 rs1263141648 |
268 | W>* | lung [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA193292517 rs750373958 |
268 | W>L | No |
ClinGen Ensembl |
|
|
rs1588076134 CA373503007 |
270 | N>S | No |
ClinGen Ensembl |
|
|
CA193292523 rs111839361 |
272 | R>G | No |
ClinGen Ensembl |
|
|
CA373503043 rs1375217140 |
272 | R>T | No |
ClinGen gnomAD |
|
|
CA193292527 COSM2152032 rs111839361 |
272 | R>W | Variant assessed as Somatic; impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs1220260884 CA373503067 |
273 | L>F | No |
ClinGen TOPMed |
|
|
CA5081794 rs755694066 |
274 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867920048 CA193292538 |
275 | L>F | No |
ClinGen Ensembl |
|
|
rs770921263 CA5081797 |
276 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs774299359 CA5081799 RCV000734147 COSM3746038 |
277 | Y>C | liver [Cosmic] | No |
ClinGen cosmic curated ClinVar ExAC dbSNP |
|
CA373503154 rs1304862300 |
278 | F>L | No |
ClinGen Ensembl |
|
|
RCV000041149 rs397517842 CA142089 |
281 | G>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA373503267 rs1382787087 |
284 | C>F | No |
ClinGen gnomAD |
|
|
CA5081801 rs745607141 |
284 | C>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 284 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373503318 COSM1109980 rs1296250761 |
286 | G>E | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1225032183 CA373503351 |
288 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 288 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM303399 rs760785189 CA5081804 |
295 | A>G | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA373503532 rs1278653582 |
295 | A>T | No |
ClinGen TOPMed |
|
|
rs760785189 CA5081805 |
295 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5081823 rs776707718 |
297 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1349241233 CA373504263 |
298 | K>E | No |
ClinGen gnomAD |
|
|
rs149912546 CA5081824 |
298 | K>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373504291 rs1244218571 |
300 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs773751182 CA5081826 |
301 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA373504303 rs770320624 |
301 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5081825 rs770320624 |
301 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763351588 CA5081827 |
302 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs766828978 CA5081828 |
303 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1296030485 CA373504344 |
304 | G>A | No |
ClinGen TOPMed |
|
|
rs1456717564 CA373504351 |
305 | G>S | No |
ClinGen gnomAD |
|
|
rs1019498266 CA193299779 |
307 | D>G | No |
ClinGen Ensembl |
|
|
rs144501871 CA5081832 |
310 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1378040842 CA373504439 |
310 | T>I | No |
ClinGen gnomAD |
|
|
CA193299784 rs1026637921 |
311 | F>Y | No |
ClinGen Ensembl |
|
|
RCV001195466 CA5081834 rs148443938 RCV001567833 |
312 | N>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA5081833 rs753426697 |
312 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA373504482 rs1460931936 |
314 | S>R | No |
ClinGen TOPMed |
|
|
rs1564554265 CA373504515 |
319 | T>A | No |
ClinGen Ensembl |
|
|
CA373504523 rs1467569980 |
320 | S>T | No |
ClinGen TOPMed |
|
|
rs1298947515 CA373504528 |
321 | W>R | No |
ClinGen gnomAD |
|
|
rs779905040 CA5081839 |
322 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373504549 rs1480530506 |
323 | Y>* | No |
ClinGen TOPMed |
|
|
rs746724027 CA5081840 |
323 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5081841 rs768891360 |
327 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1248601605 CA373504575 |
328 | P>T | No |
ClinGen gnomAD |
|
|
CA5081843 rs748342146 |
329 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1274285534 CA373504593 |
330 | T>I | No |
ClinGen gnomAD |
|
|
rs1470897776 CA373504594 |
331 | A>T | No |
ClinGen gnomAD |
|
|
CA5081844 rs769913872 |
332 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376305043 CA5081846 |
337 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1321205350 CA373504647 |
338 | I>V | No |
ClinGen TOPMed |
|
|
CA193299859 rs962204105 |
339 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA142046 rs111033464 RCV000041124 |
340 | M>T | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs727504568 CA183385 RCV000155735 |
341 | N>T | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1363207425 CA373504708 |
345 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs749274559 CA5081865 |
347 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs771497286 CA5081866 |
351 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 352 | A>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 352 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs397517834 RCV000041125 RCV002274902 CA142048 |
357 | N>S | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA5081868 rs774756982 |
358 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774756982 CA5081867 |
358 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs868456133 CA193300295 |
359 | H>Y | No |
ClinGen Ensembl |
|
|
rs772620520 CA5081869 |
360 | L>M | No |
ClinGen ExAC gnomAD |
|
|
CA5081870 rs775992461 |
362 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs761560850 CA5081871 |
362 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1211839569 CA373504842 |
365 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 366 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373504851 rs1386660500 |
366 | F>S | No |
ClinGen gnomAD |
|
|
CA5081873 rs768955462 |
367 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1388715565 CA373504860 |
368 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
CA193300311 rs758739636 |
371 | F>L | No |
ClinGen TOPMed |
|
|
rs762332645 CA373504886 |
371 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5081878 rs767369935 |
377 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs754899734 CA5081877 |
377 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs752427037 CA5081879 |
378 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA5081880 rs372215112 |
380 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373504936 rs1227853868 |
380 | G>R | No |
ClinGen gnomAD |
|
|
rs1246048245 CA373504943 |
381 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1420431206 CA373504953 |
383 | I>V | No |
ClinGen TOPMed |
|
|
CA373504972 rs1588084150 |
385 | W>L | No |
ClinGen Ensembl |
|
|
rs1362518139 CA373504976 |
386 | A>S | No |
ClinGen TOPMed |
|
|
rs1244645231 CA373504992 |
388 | K>R | No |
ClinGen gnomAD |
|
|
CA5081885 rs772640673 |
389 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373505007 rs1401880558 |
391 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
CA5081886 rs776010914 |
391 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374313036 CA5081887 |
394 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373505042 rs1489012382 |
396 | Q>E | No |
ClinGen TOPMed |
|
|
rs185702148 CA5081890 RCV000220142 |
397 | D>N | No |
ClinGen ClinVar 1000Genomes ExAC dbSNP gnomAD |
|
|
CA373505067 rs1447558158 |
399 | D>G | No |
ClinGen gnomAD |
|
|
CA5081891 rs765865619 |
400 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1271495869 CA373505077 |
401 | L>F | No |
ClinGen Ensembl |
|
|
CA373505081 rs1221694790 |
401 | L>P | No |
ClinGen TOPMed |
|
|
rs773851192 CA5081892 |
403 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs759478413 CA5081893 |
404 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs878853240 CA16616836 |
404 | W>R | No |
ClinGen Ensembl |
|
|
rs767390037 CA5081894 |
405 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA193300370 rs969922326 |
405 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA373505134 rs1291774207 |
406 | K>E | No |
ClinGen TOPMed |
|
|
rs1019122214 CA193300380 |
406 | K>R | No |
ClinGen TOPMed |
|
|
CA373505162 rs1186419198 |
408 | E>A | No |
ClinGen gnomAD |
|
|
CA373505687 rs1588085304 |
409 | M>I | No |
ClinGen Ensembl |
|
|
CA373505680 rs1168833163 |
409 | M>T | No |
ClinGen gnomAD |
|
|
RCV000152037 rs184603559 CA178208 RCV001753541 |
411 | M>I | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs963105486 CA193301067 |
411 | M>K | No |
ClinGen Ensembl |
|
|
CA373505744 rs963105486 |
411 | M>T | No |
ClinGen Ensembl |
|
|
rs1167231174 CA373505736 |
411 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373505777 COSM1581830 rs1307556703 |
412 | V>A | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA373505775 rs1307556703 |
412 | V>D | No |
ClinGen TOPMed gnomAD |
|
|
rs568058201 CA5081907 |
412 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs995717899 CA373505793 |
413 | M>L | No |
ClinGen TOPMed |
|
|
rs995717899 CA193301075 |
413 | M>V | No |
ClinGen TOPMed |
|
|
rs1366287644 CA373505814 |
414 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA373505850 rs1210812299 |
416 | L>R | No |
ClinGen TOPMed |
|
|
CA193301080 rs1026225100 |
416 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373505881 rs775453038 |
418 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5081910 rs775453038 |
418 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5081911 rs760645934 |
419 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs868082421 CA193301096 |
422 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV000609883 CA373505953 rs868082421 |
422 | T>K | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA193301099 rs753600914 |
423 | L>M | No |
ClinGen ExAC |
|
|
rs761954491 CA5081913 |
423 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA373505991 rs1211061169 |
424 | F>L | No |
ClinGen gnomAD |
|
|
COSM1726716 CA373505986 rs1490380695 |
424 | F>S | liver [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1265945276 CA373505994 |
425 | D>N | No |
ClinGen gnomAD |
|
|
CA5081915 rs750563026 |
427 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1392396283 CA373506025 |
427 | F>S | No |
ClinGen gnomAD |
|
|
rs1011844435 CA193301113 |
428 | A>G | No |
ClinGen TOPMed |
|
|
CA373506033 rs1447978629 |
428 | A>T | No |
ClinGen gnomAD |
|
|
rs780260906 CA5081917 |
429 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs752172170 CA5081918 |
431 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA193301122 rs928648519 |
432 | D>A | No |
ClinGen TOPMed gnomAD |
|
|
rs928648519 CA373506094 |
432 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1161511210 CA373506089 |
432 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1311808777 CA373506103 |
433 | Y>C | No |
ClinGen TOPMed |
|
|
rs375264737 CA5081919 |
434 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781418962 CA5081921 |
434 | H>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs375264737 CA373506119 |
434 | H>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA5081922 rs770517350 |
437 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA5081924 rs745495139 |
438 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA373506211 rs1246401807 |
441 | W>* | No |
ClinGen gnomAD |
|
|
rs771625117 CA5081925 |
444 | G>E | No |
ClinGen ExAC |
|
|
CA5081926 rs760532554 COSM3216816 |
445 | R>H | liver [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1228556649 CA373506346 |
449 | L>P | No |
ClinGen gnomAD |
|
|
CA5081927 rs768579412 |
450 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA5081928 rs776311501 |
451 | L>V | No |
ClinGen ExAC |
|
|
CA373506465 rs1425778786 |
455 | Y>C | No |
ClinGen gnomAD |
|
|
rs763255951 CA5081932 |
456 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs397517836 CA142051 RCV000041128 |
457 | F>L | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA373506503 rs1159862966 |
458 | I>F | No |
ClinGen gnomAD |
|
|
CA373506500 rs1159862966 |
458 | I>L | No |
ClinGen gnomAD |
|
|
CA373506508 rs1390688898 |
458 | I>T | No |
ClinGen gnomAD |
|
|
rs751594947 CA5081933 |
459 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1261624639 CA373506529 |
460 | A>G | No |
ClinGen TOPMed |
|
|
rs755457390 CA5081934 |
462 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs758352261 CA373506580 |
463 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758352261 CA5081935 |
463 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1179898549 CA373506687 |
467 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
CA5081937 rs753108960 |
468 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs947189078 CA193301221 |
469 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373506844 rs1284414791 |
471 | E>* | No |
ClinGen gnomAD |
|
|
rs993650641 CA193301224 |
473 | K>E | No |
ClinGen TOPMed |
|
|
CA5081952 rs371004715 |
473 | K>N | No |
ClinGen ESP ExAC gnomAD |
|
|
CA193301227 rs1043264053 |
473 | K>T | No |
ClinGen TOPMed |
|
|
CA373507023 rs1467966798 |
478 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA193301237 rs905735885 |
479 | I>N | No |
ClinGen TOPMed |
|
|
CA373507046 rs1461519287 |
480 | T>P | No |
ClinGen TOPMed |
|
|
CA373507048 rs1461519287 |
480 | T>S | No |
ClinGen TOPMed |
|
|
rs1401888628 CA373507076 COSM1701158 |
481 | L>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA5081956 rs754142954 |
482 | W>R | No |
ClinGen ExAC gnomAD |
|
|
RCV000658002 rs1554728060 CA373507143 |
483 | E>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1249691731 CA373507150 |
484 | A>T | No |
ClinGen gnomAD |
|
|
CA5081957 rs758068479 |
485 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746611422 CA5081958 |
487 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs368087393 CA5081959 |
489 | A>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA373507293 rs887241990 |
491 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1348142681 CA373507302 |
491 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA193301249 rs887241990 |
491 | N>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 492 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5081960 rs780555614 |
492 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs769847194 CA5081962 |
493 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs748118938 CA5081961 |
493 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1227231831 CA373507379 |
494 | F>L | No |
ClinGen gnomAD |
|
|
CA5081964 rs749066542 |
500 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5081963 rs773195404 |
500 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA373507525 rs1370337426 |
501 | P>A | No |
ClinGen gnomAD |
|
|
rs771313896 CA5081965 |
501 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs1230898342 CA373507544 |
502 | P>H | No |
ClinGen gnomAD |
|
|
CA373507548 rs1230898342 |
502 | P>L | No |
ClinGen gnomAD |
|
|
rs1230898342 CA373507547 |
502 | P>R | No |
ClinGen gnomAD |
|
|
rs774660132 CA5081966 |
502 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA373507590 rs1194771055 |
505 | V>L | No |
ClinGen TOPMed |
|
|
RCV000657658 CA5081967 rs200171616 |
512 | R>* | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA373507754 rs1482786407 |
512 | R>Q | No |
ClinGen gnomAD |
|
|
rs767642609 CA5081968 |
515 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA373507845 rs1489404848 |
516 | W>* | No |
ClinGen gnomAD |
|
|
rs1189320333 CA373507930 |
519 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA373507966 rs1346889068 |
520 | V>A | No |
ClinGen TOPMed |
|
|
CA5081969 rs146558576 |
521 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA373507998 rs1170128899 |
522 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1313886386 CA373508004 |
522 | Q>P | No |
ClinGen gnomAD |
|
|
CA5081992 rs777145557 |
524 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1292651442 CA373667517 |
525 | V>L | No |
ClinGen gnomAD |
|
|
CA5081994 rs761621035 |
529 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750746559 CA5081995 |
530 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1375266244 CA373667557 |
531 | D>E | No |
ClinGen gnomAD |
|
|
CA373667598 rs1157478753 |
538 | T>I | No |
ClinGen gnomAD |
|
|
CA373667600 rs1440539662 |
539 | I>V | No |
ClinGen TOPMed |
|
|
RCV000312108 CA5082002 rs201955337 |
541 | I>T | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs1357621933 CA373667621 |
542 | G>E | No |
ClinGen gnomAD |
|
|
rs745630603 CA373667631 |
543 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 544 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA373667641 rs1480474842 |
545 | L>V | No |
ClinGen TOPMed |
|
|
CA373667660 rs1175348109 |
548 | C>R | No |
ClinGen TOPMed |
|
| TCGA novel | 548 | C>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5082006 rs201465054 |
550 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs747186037 CA5082007 |
551 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 552 | F>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768736139 CA5082008 |
553 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA193290437 rs917323119 |
554 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs776624164 CA5082009 |
554 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1272127765 CA373667730 CA373667728 |
557 | W>C | No |
ClinGen TOPMed gnomAD |
|
|
CA373667733 rs1588092012 |
558 | C>G | No |
ClinGen Ensembl |
|
|
CA5082010 rs762371411 |
560 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA5082011 rs770186250 |
560 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373667759 rs1478590012 |
562 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 563 | Y>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA193290469 rs1017313099 |
564 | G>A | No |
ClinGen Ensembl |
|
|
rs1222503212 CA373667787 |
565 | Y>* | No |
ClinGen TOPMed |
|
|
CA373668233 rs1369821363 |
568 | Y>* | No |
ClinGen TOPMed |
|
|
rs1387262993 CA373668229 |
568 | Y>C | No |
ClinGen gnomAD |
|
|
RCV001853490 CA5082046 rs148971770 RCV000215959 |
569 | T>A | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1329140038 CA373668240 |
569 | T>N | No |
ClinGen gnomAD |
|
|
rs1297602315 CA373668260 |
571 | F>L | No |
ClinGen TOPMed |
|
|
rs1430309680 CA373668275 |
571 | F>S | No |
ClinGen TOPMed |
|
| TCGA novel | 574 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1365841589 CA373668315 |
575 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs919280403 CA193294808 |
576 | N>S | No |
ClinGen TOPMed |
|
|
rs1250257217 CA373668375 |
579 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA373668395 rs1453465718 |
581 | I>L | No |
ClinGen TOPMed |
|
|
rs764756492 CA5082050 |
581 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs758288878 CA373668437 |
584 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758288878 CA5082052 |
584 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs377731576 CA193294822 |
584 | Q>R | No |
ClinGen ESP |
|
| TCGA novel | 586 | M>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368084452 CA5082072 |
588 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766228632 CA5082053 |
588 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1287951091 CA373669530 |
589 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs759355645 CA5082073 |
590 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA373669539 rs1397306960 |
590 | G>V | No |
ClinGen gnomAD |
|
|
rs1355444681 CA373669573 |
595 | P>L | No |
ClinGen gnomAD |
|
|
rs944185428 CA193296944 |
597 | L>F | No |
ClinGen Ensembl |
|
|
CA373669590 rs1588100821 |
598 | P>L | No |
ClinGen Ensembl |
|
|
rs727503486 RCV000152042 CA178214 |
599 | G>D | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA373669593 rs1246615890 |
599 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs202144745 CA193296962 RCV001195532 |
600 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1041352991 CA193296966 |
602 | I>S | No |
ClinGen Ensembl |
|
|
rs1484356573 CA373669625 COSM1173515 |
604 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs753934157 CA5082078 |
605 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs552859227 CA193296987 |
607 | T>I | No |
ClinGen 1000Genomes |
|
|
rs757882877 CA5082079 |
610 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1483383669 CA373669689 |
613 | C>F | No |
ClinGen gnomAD |
|
|
CA5082080 rs779595582 |
613 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA193297042 rs932693448 |
616 | V>A | No |
ClinGen gnomAD |
|
|
rs932693448 CA373669709 |
616 | V>G | No |
ClinGen gnomAD |
|
|
RCV002267080 rs376422017 RCV001195530 CA5082083 |
616 | V>I | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA373669710 rs780400544 |
617 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA193297050 rs1048894035 |
617 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA5082084 rs780400544 |
617 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1300900067 CA373669721 COSM609404 |
618 | C>F | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs766917705 CA193297058 |
620 | N>D | No |
ClinGen Ensembl |
|
|
COSM73000 rs769474449 CA5082086 |
620 | N>S | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs772644384 CA5082087 |
622 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA373669748 rs1387585272 |
622 | P>L | No |
ClinGen TOPMed |
|
|
rs1349151202 CA373669750 |
623 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
RCV001195531 CA5082088 rs762417969 |
625 | R>T | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs938476373 CA193297085 |
628 | K>N | No |
ClinGen TOPMed |
|
|
rs1302396616 CA373669793 |
629 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
CA193297088 rs888425701 |
629 | A>T | No |
ClinGen Ensembl |
|
|
rs1302396616 CA373669794 |
629 | A>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 630 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs774290221 CA5082090 |
631 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA373669818 rs1564577142 |
633 | N>S | No |
ClinGen Ensembl |
|
|
CA5082091 rs759407054 |
634 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs767285617 RCV000220237 CA10576756 |
634 | N>K | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA373669831 rs541669728 |
634 | N>S | No |
ClinGen 1000Genomes TOPMed |
|
|
CA193297116 rs541669728 |
634 | N>T | No |
ClinGen 1000Genomes TOPMed |
|
|
rs752528578 CA5082094 |
636 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1036872726 CA193297154 |
638 | G>D | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 638 | G>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 641 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5082098 rs779079165 |
648 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA5082099 rs750971301 |
649 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 650 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1169933015 CA373670249 |
650 | P>S | No |
ClinGen gnomAD |
|
|
rs758968889 CA373670295 |
652 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA373670320 rs1461930932 |
653 | Y>C | No |
ClinGen gnomAD |
|
|
CA193297214 rs931234840 |
654 | M>R | No |
ClinGen TOPMed |
|
|
CA5082102 rs144147585 |
656 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5082103 rs769370851 |
658 | L>H | No |
ClinGen ExAC gnomAD |
|
|
CA373670531 rs1303007203 |
660 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
RCV000041135 CA142063 rs397517837 |
663 | D>G | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs397517837 CA373670597 |
663 | D>V | No |
ClinGen gnomAD |
|
|
CA178216 RCV000152043 rs727503487 |
664 | C>W | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA193297234 rs978669699 |
666 | P>L | No |
ClinGen Ensembl |
|
|
rs1272560690 CA373670657 |
667 | F>Y | No |
ClinGen gnomAD |
|
|
rs1181901214 CA373672657 |
668 | S>R | No |
ClinGen gnomAD |
|
|
CA373672683 rs1474507472 |
670 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 671 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1164767371 CA373672714 |
672 | R>G | No |
ClinGen gnomAD |
|
|
rs1564580932 CA373672764 |
674 | F>S | No |
ClinGen Ensembl |
|
|
CA5082127 rs561207896 |
675 | E>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA373672773 rs540988111 |
675 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs540988111 CA5082126 |
675 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5082128 rs764992976 |
676 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373672818 rs1448901281 |
677 | I>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 677 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5082129 rs768503451 |
680 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA5082130 rs199819595 |
682 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
RCV000041136 CA142065 rs199819595 |
682 | E>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs563322370 CA5082133 |
684 | D>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1674539 rs563322370 RCV000415824 CA5082132 |
684 | D>N | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA373672973 rs1329628505 |
686 | P>S | No |
ClinGen gnomAD |
|
|
CA5082135 rs752117955 |
688 | W>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5082136 rs755369550 |
689 | M>T | No |
ClinGen ExAC gnomAD |
|
|
RCV000041137 CA142067 rs397517838 |
690 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP |
|
COSM1109988 CA5082137 rs371947894 |
690 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA373673097 rs1484368059 |
692 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA5082138 rs756948278 |
695 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs745477868 CA373673265 |
699 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745477868 CA5082140 |
699 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5082141 rs757941226 |
701 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
CA5082143 rs747035869 |
702 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs376843201 COSM3382565 CA193299730 |
704 | A>G | pancreas [Cosmic] | No |
ClinGen cosmic curated ESP TOPMed gnomAD |
|
CA373673353 rs1385246326 |
704 | A>T | No |
ClinGen TOPMed |
|
|
CA5082144 rs768465472 |
707 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776617166 CA5082145 |
709 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA5082163 rs781309408 |
712 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1230296047 CA373674835 COSM487548 |
713 | I>T | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs769722158 CA5082165 |
714 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1361623823 CA373674877 |
715 | Y>H | No |
ClinGen TOPMed |
|
|
rs749588216 CA5082166 |
717 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA5082167 rs771042716 |
723 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1013701048 CA373675114 |
723 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1564583188 CA373675087 |
723 | Q>R | No |
ClinGen Ensembl |
|
|
rs1047876956 CA193300738 |
725 | A>P | No |
ClinGen TOPMed |
|
|
CA193300743 rs886638163 |
725 | A>V | No |
ClinGen TOPMed |
|
|
rs573874378 CA373675174 |
726 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA193300750 rs967700463 |
727 | N>H | No |
ClinGen Ensembl |
|
|
rs532762720 CA5082171 |
727 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373675214 rs1215905582 |
728 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 730 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5082172 rs775993082 |
731 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142701058 CA5082174 |
732 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs201945537 CA5082176 |
734 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5082175 rs201945537 |
734 | M>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5082177 rs201945537 |
734 | M>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA373675531 rs1588105994 |
739 | L>* | No |
ClinGen Ensembl |
|
|
CA373675583 rs1433853309 |
742 | K>R | No |
ClinGen gnomAD |
|
|
rs979335324 CA193300824 |
743 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
RCV000155294 RCV001850127 CA182534 COSM300204 rs150738413 |
744 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA373675628 rs756166626 |
744 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5082199 rs756166626 |
744 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1034321691 CA193300835 |
745 | N>K | No |
ClinGen gnomAD |
|
|
rs753763142 CA5082201 |
746 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA373675684 rs1465702507 |
747 | K>N | No |
ClinGen TOPMed |
|
|
rs1474780352 CA373675703 |
748 | M>T | No |
ClinGen gnomAD |
|
| TCGA novel | 749 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs778706687 CA5082203 |
749 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5082204 rs149506642 |
752 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5082205 rs191912512 |
752 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA373675817 rs1588106051 |
754 | A>T | No |
ClinGen Ensembl |
|
|
CA373677753 rs1353234734 |
755 | A>S | No |
ClinGen gnomAD |
|
|
CA5082274 rs768121893 |
756 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs776193466 CA5082275 |
758 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA5082277 rs765191961 |
759 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5082279 rs570411548 |
760 | Q>K | No |
ClinGen 1000Genomes ExAC gnomAD |
2 associated diseases with Q8TDI8
[MIM: 606705]: Deafness, autosomal dominant, 36 (DFNA36)
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA36 is a bilateral hearing loss, and begins at 5-10 years of age. It progresses to profound deafness within 10-15 years. {ECO:0000269|PubMed:11850618, ECO:0000269|PubMed:25388789}. Note=The disease is caused by variants affecting the gene represented in this entry.
[MIM: 600974]: Deafness, autosomal recessive, 7 (DFNB7)
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:11850618}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA36 is a bilateral hearing loss, and begins at 5-10 years of age. It progresses to profound deafness within 10-15 years. {ECO:0000269|PubMed:11850618, ECO:0000269|PubMed:25388789}. Note=The disease is caused by variants affecting the gene represented in this entry.
- A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:11850618}. Note=The disease is caused by variants affecting the gene represented in this entry.
1 regional properties for Q8TDI8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| domain | TMC domain | 515 - 630 | IPR012496 |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| external side of plasma membrane | The leaflet of the plasma membrane that faces away from the cytoplasm and any proteins embedded or anchored in it or attached to its surface. |
| 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. |
| stereocilium tip | A distinct compartment at the tip of a stereocilium, distal to the site of attachment to the apical cell surface. It consists of a dense matrix bridging the barbed ends of the stereocilium actin filaments with the overlying plasma membrane, is dynamic compared to the shaft, and is required for stereocilium elongation. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| mechanosensitive ion channel activity | Enables the transmembrane transfer of an ion by a channel that opens in response to a mechanical stress. |
| voltage-gated calcium channel activity | Enables the transmembrane transfer of a calcium ion by a voltage-gated channel. A voltage-gated channel is a channel whose open state is dependent on the voltage across the membrane in which it is embedded. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| auditory receptor cell development | The process whose specific outcome is the progression of an auditory receptor cell over time, from its formation to the mature structure. Cell development does not include the steps involved in committing a cell to a specific fate. |
| detection of mechanical stimulus involved in sensory perception of sound | The series of events involved in the perception of sound vibration in which the vibration is received and converted into a molecular signal. |
| regulation of calcium ion transmembrane transport | Any process that modulates the frequency, rate or extent of calcium ion transmembrane transport. |
| vestibular reflex | A reflex process in which a response to an angular or linear acceleration stimulus begins with an afferent nerve impulse from a receptor in the inner ear and ends with the compensatory action of eye muscles. Signaling never reaches a level of consciousness. |
5 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8IU68 | TMC8 | Transmembrane channel-like protein 8 | Homo sapiens (Human) | PR |
| Q7Z402 | TMC7 | Transmembrane channel-like protein 7 | Homo sapiens (Human) | PR |
| Q6UXY8 | TMC5 | Transmembrane channel-like protein 5 | Homo sapiens (Human) | PR |
| Q7Z5M5 | TMC3 | Transmembrane channel-like protein 3 | Homo sapiens (Human) | PR |
| Q8R4P5 | Tmc1 | Transmembrane channel-like protein 1 | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSPKKVQIKV | EEKEDETEES | SSEEEEEVED | KLPRRESLRP | KRKRTRDVIN | EDDPEPEPED |
| 70 | 80 | 90 | 100 | 110 | 120 |
| EETRKAREKE | RRRRLKRGAE | EEEIDEEELE | RLKAELDEKR | QIIATVKCKP | WKMEKKIEVL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KEAKKFVSEN | EGALGKGKGK | RWFAFKMMMA | KKWAKFLRDF | ENFKAACVPW | ENKIKAIESQ |
| 190 | 200 | 210 | 220 | 230 | 240 |
| FGSSVASYFL | FLRWMYGVNM | VLFILTFSLI | MLPEYLWGLP | YGSLPRKTVP | RAEEASAANF |
| 250 | 260 | 270 | 280 | 290 | 300 |
| GVLYDFNGLA | QYSVLFYGYY | DNKRTIGWMN | FRLPLSYFLV | GIMCIGYSFL | VVLKAMTKNI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| GDDGGGDDNT | FNFSWKVFTS | WDYLIGNPET | ADNKFNSITM | NFKEAITEEK | AAQVEENVHL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| IRFLRFLANF | FVFLTLGGSG | YLIFWAVKRS | QEFAQQDPDT | LGWWEKNEMN | MVMSLLGMFC |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PTLFDLFAEL | EDYHPLIALK | WLLGRIFALL | LGNLYVFILA | LMDEINNKIE | EEKLVKANIT |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LWEANMIKAY | NASFSENSTG | PPFFVHPADV | PRGPCWETMV | GQEFVRLTVS | DVLTTYVTIL |
| 550 | 560 | 570 | 580 | 590 | 600 |
| IGDFLRACFV | RFCNYCWCWD | LEYGYPSYTE | FDISGNVLAL | IFNQGMIWMG | SFFAPSLPGI |
| 610 | 620 | 630 | 640 | 650 | 660 |
| NILRLHTSMY | FQCWAVMCCN | VPEARVFKAS | RSNNFYLGML | LLILFLSTMP | VLYMIVSLPP |
| 670 | 680 | 690 | 700 | 710 | 720 |
| SFDCGPFSGK | NRMFEVIGET | LEHDFPSWMA | KILRQLSNPG | LVIAVILVMV | LAIYYLNATA |
| 730 | 740 | 750 | |||
| KGQKAANLDL | KKKMKMQALE | NKMRNKKMAA | ARAAAAAGRQ |