Q96RN1
PR
Gene name |
SLC26A8 |
Protein name |
Testis anion transporter 1 |
Names |
Anion exchange transporter, Solute carrier family 26 member 8 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:116369 |
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 Q96RN1
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96RN1-F1 | Predicted | AlphaFoldDB |
728 variants for Q96RN1
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
VAR_070058 RCV000043624 rs140210148 CA143847 |
87 | R>Q | Spermatogenic failure 3 SPGF3; there is a reduced interactions with CFTR and complete failure to activate CFTR-dependent anion transport [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
VAR_070059 RCV002513638 CA143849 RCV002247429 RCV000043625 rs142724470 |
812 | E>K | Spermatogenic failure 3 SPGF3; there is a reduced interactions with CFTR and complete failure to activate CFTR-dependent anion transport [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs398123027 CA143851 VAR_070060 RCV000043626 |
954 | R>C | Spermatogenic failure 3 SPGF3; there is a reduced interactions with CFTR and complete failure to activate CFTR-dependent anion transport [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD |
|
rs201560074 CA3775937 |
7 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363793710 rs116551877 |
7 | S>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs769670162 CA3775938 |
7 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA3775935 rs189677862 |
8 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA363793700 rs1399473326 |
8 | A>V | No |
ClinGen TOPMed |
|
|
rs746494902 CA363793685 |
9 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs746494902 CA3775934 |
9 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1328665043 CA363793618 |
14 | S>F | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 15 | K>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777381698 CA3775932 |
17 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1225830992 CA363793577 |
17 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM1078463 CA363793572 rs1346725120 |
18 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs771506667 CA3775931 |
18 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3775929 rs184824016 |
21 | F>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3775928 rs184824016 |
21 | F>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs754263412 CA3775927 |
21 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM3715396 CA3775925 rs557709759 |
22 | A>T | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs750449787 CA3775924 |
23 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1581703834 CA363793480 |
24 | D>E | No |
ClinGen Ensembl |
|
|
rs1283535923 CA363793486 |
24 | D>N | No |
ClinGen TOPMed |
|
| TCGA novel | 25 | V>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363793456 rs1244058412 |
28 | E>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1244058412 CA363793455 |
28 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs144948453 CA3775922 |
28 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 30 | Y>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1464627432 CA363793437 |
31 | N>D | No |
ClinGen gnomAD |
|
|
rs370122961 CA3775921 |
34 | T>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs370122961 CA137331348 |
34 | T>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs920572887 COSM126235 CA137331346 |
40 | K>Q | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
rs752076345 CA137331345 |
40 | K>R | No |
ClinGen TOPMed |
|
|
rs759391001 CA3775918 |
42 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363793349 rs1174793709 |
43 | A>T | No |
ClinGen TOPMed |
|
|
rs1217817073 CA363793340 |
44 | S>F | No |
ClinGen gnomAD |
|
|
rs376145664 CA3775916 |
45 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363793323 rs1341767526 |
47 | G>A | No |
ClinGen TOPMed |
|
|
CA3775915 rs760715809 |
47 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1019108558 CA137331311 |
50 | N>D | No |
ClinGen Ensembl |
|
|
rs753457797 CA137331281 |
55 | T>A | No |
ClinGen Ensembl |
|
|
rs1173949865 CA363793247 |
58 | H>Y | No |
ClinGen gnomAD |
|
|
CA363793235 rs142576626 CA3775911 |
59 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1419897712 CA363793239 |
59 | H>Y | No |
ClinGen gnomAD |
|
|
rs1029670131 COSM1078462 CA137331231 |
60 | V>I | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA3775909 rs749626180 |
61 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3775908 COSM1444058 rs780448398 |
63 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs769836507 CA3775907 COSM1444056 |
63 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1444057 rs769836507 CA3775906 |
63 | R>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA3775876 rs147744024 |
68 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1165984018 CA363792487 |
69 | F>I | No |
ClinGen TOPMed |
|
|
rs201650524 CA3775875 COSM1078461 |
71 | R>* | endometrium central_nervous_system Variant assessed as Somatic; 4.673e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs116146081 CA137326349 |
71 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3775874 rs116146081 |
71 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3775872 VAR_039464 rs743923 |
73 | V>M | not a cause of male infertility [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA363792424 rs1271439581 |
75 | T>A | No |
ClinGen gnomAD |
|
|
CA3775869 rs747470157 |
76 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363792386 rs1217288652 |
78 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA363792354 rs1287160509 |
81 | E>G | No |
ClinGen gnomAD |
|
|
rs1317057097 CA363792359 |
81 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3775868 rs549200030 |
83 | M>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363792332 rs1453354219 |
83 | M>V | No |
ClinGen TOPMed |
|
|
rs199880055 CA3775867 |
84 | C>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748298266 CA3775866 |
85 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1237974753 CA363792310 |
85 | M>V | No |
ClinGen TOPMed |
|
|
CA3775865 rs779192459 |
86 | Y>F | No |
ClinGen ExAC TOPMed |
|
|
COSM1078460 CA137326306 rs867629953 |
87 | R>* | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 88 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749769087 CA3775864 |
89 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780805055 CA3775863 |
94 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363792203 rs1158554045 |
95 | D>N | No |
ClinGen gnomAD |
|
|
rs1220970427 CA363792170 |
97 | L>P | No |
ClinGen gnomAD |
|
|
rs751428541 CA3775861 |
98 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA137326296 rs1042621577 |
101 | S>R | No |
ClinGen gnomAD |
|
|
CA3775859 rs762434536 |
102 | V>D | No |
ClinGen ExAC gnomAD |
|
|
rs764028332 CA3775860 |
102 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA363792068 rs1418863431 |
107 | V>A | No |
ClinGen TOPMed |
|
|
CA3775856 rs759158549 |
107 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs759158549 CA3775857 |
107 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA137326269 rs1028014646 |
108 | P>L | No |
ClinGen TOPMed |
|
|
CA3775855 rs769579658 |
109 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
rs769579658 CA137326263 |
109 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA3775841 rs758369045 |
110 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363790716 rs758369045 |
110 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363790696 rs1486832154 |
112 | T>K | No |
ClinGen TOPMed |
|
|
rs371164746 CA3775838 |
114 | S>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs753364360 CA3775837 |
120 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA137320600 rs1036233561 |
121 | I>S | No |
ClinGen TOPMed |
|
|
CA137320585 rs937625114 |
124 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 125 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761119105 CA3775835 |
126 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768118883 CA3775833 |
127 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs564484360 CA3775832 |
127 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs939875741 CA137320558 |
134 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs952662385 CA137320551 |
135 | V>I | No |
ClinGen TOPMed |
|
|
rs144307209 CA3775828 |
139 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1172516710 CA363790519 |
139 | I>V | No |
ClinGen TOPMed |
|
|
rs770065425 CA3775827 |
142 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA137320533 rs991942762 |
142 | S>T | No |
ClinGen TOPMed |
|
|
rs960188982 CA137320523 |
143 | C>R | No |
ClinGen TOPMed |
|
|
rs1440599876 CA363790487 |
144 | H>Y | No |
ClinGen gnomAD |
|
|
rs777592694 CA3775825 |
146 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA3775824 rs758233484 |
147 | S>F | No |
ClinGen ExAC gnomAD |
|
|
VAR_039465 CA3775823 rs17713154 |
148 | I>V | not a cause of male infertility [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs975393180 CA137320499 |
149 | G>C | No |
ClinGen Ensembl |
|
|
rs552935865 CA3775811 |
149 | G>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1394442640 CA363790423 |
152 | F>L | No |
ClinGen TOPMed |
|
|
rs1200049033 CA363790402 |
155 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 160 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1229500445 CA363790370 |
160 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
COSM174628 CA3775806 rs199595123 |
161 | V>I | large_intestine Variant assessed as Somatic; 4.62e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1350098973 CA363790360 |
162 | L>V | No |
ClinGen gnomAD |
|
|
rs1006187218 CA137319531 |
164 | V>A | No |
ClinGen Ensembl |
|
|
CA363790348 rs1322559551 |
164 | V>L | No |
ClinGen gnomAD |
|
| TCGA novel | 165 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363790339 rs1390123890 |
165 | S>N | No |
ClinGen gnomAD |
|
|
rs201627972 CA137319514 |
166 | P>A | No |
ClinGen TOPMed |
|
|
rs201627972 CA363790334 |
166 | P>S | No |
ClinGen TOPMed |
|
|
CA3775803 rs778712525 |
168 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3775801 rs151303308 |
170 | G>R | No |
ClinGen 1000Genomes ExAC |
|
|
rs1311075001 CA363790299 |
171 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA363790257 rs1445133765 |
177 | F>C | No |
ClinGen TOPMed |
|
|
rs757546070 COSM299782 CA3775795 |
178 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA363790233 rs1329057169 |
181 | E>K | No |
ClinGen gnomAD |
|
| TCGA novel | 182 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs752023890 COSM3626122 CA3775794 |
183 | S>L | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA137319482 rs868407472 |
188 | L>F | No |
ClinGen Ensembl |
|
|
CA3775791 rs753224015 |
189 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs144881787 CA3775790 |
190 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA3775789 rs759615510 |
191 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1417279620 CA363790167 |
191 | Y>H | No |
ClinGen TOPMed |
|
|
rs1165518185 CA363790155 |
192 | N>K | No |
ClinGen TOPMed |
|
|
CA363790158 rs1433775483 |
192 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA363790157 rs1433775483 |
192 | N>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 192 | N>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA137319473 rs767575771 |
196 | S>N | No |
ClinGen Ensembl |
|
|
CA363790119 rs1386343674 |
198 | V>M | No |
ClinGen gnomAD |
|
|
rs1178230239 CA363790112 |
199 | A>T | No |
ClinGen gnomAD |
|
|
rs1383437477 CA363790096 |
201 | T>I | No |
ClinGen TOPMed |
|
|
CA3775788 rs776775396 |
202 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137319470 rs776775396 |
202 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363790072 rs1319365707 |
206 | G>R | No |
ClinGen TOPMed |
|
|
rs781602631 CA137319469 |
207 | I>N | No |
ClinGen Ensembl |
|
|
CA137354116 rs201152927 |
210 | L>I | No |
ClinGen 1000Genomes ExAC |
|
|
rs759598852 CA3775771 |
210 | L>P | No |
ClinGen ExAC TOPMed |
|
|
rs753958743 CA3775770 |
212 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs150075304 CA3775767 |
214 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs150075304 CA363804325 |
214 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA137354080 rs141632932 |
215 | L>S | No |
ClinGen ESP gnomAD |
|
|
rs376657760 CA3775764 |
216 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3775765 rs376657760 |
216 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3775761 rs776250971 |
220 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA363804286 rs1417410282 |
220 | I>T | No |
ClinGen gnomAD |
|
|
CA363804279 rs1158150789 |
221 | A>V | No |
ClinGen TOPMed |
|
|
CA3775760 rs148004355 |
223 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746630906 CA3775759 |
225 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3775756 rs17707331 VAR_039466 |
230 | S>N | not a cause of male infertility [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1285991835 CA363804201 |
233 | L>P | No |
ClinGen TOPMed |
|
|
rs1437301573 CA363804192 |
235 | A>P | No |
ClinGen gnomAD |
|
|
CA3775755 rs779362379 |
236 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3775754 rs755529715 |
237 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA363804176 rs754325913 |
238 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA3775753 rs754325913 |
238 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA3775751 rs147711219 |
239 | H>Q | No |
ClinGen ESP ExAC gnomAD |
|
|
rs766444706 CA3775752 |
239 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1349183096 CA363804170 |
239 | H>Y | No |
ClinGen TOPMed |
|
|
CA3775749 rs767912491 |
240 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1331660902 CA363804161 |
240 | I>M | No |
ClinGen TOPMed |
|
|
CA363804163 rs1269229948 |
240 | I>T | No |
ClinGen TOPMed |
|
|
CA3775748 rs762840908 |
243 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA363804144 rs1370873645 |
243 | S>Y | No |
ClinGen gnomAD |
|
|
rs1307211126 CA363804103 |
249 | F>S | No |
ClinGen gnomAD |
|
|
CA363804062 rs1194770134 |
255 | F>L | No |
ClinGen gnomAD |
|
|
CA137353977 rs759953274 |
257 | A>D | No |
ClinGen Ensembl |
|
|
CA3775745 rs759495209 |
257 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA363804041 rs546689610 |
258 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3775742 rs546689610 |
258 | G>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 262 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1258917505 CA363803996 |
264 | Y>* | No |
ClinGen TOPMed |
|
|
rs772905469 CA3775741 |
264 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766284320 CA3775726 |
265 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs570860784 CA3775725 |
266 | I>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363803965 rs1251759553 |
267 | I>S | No |
ClinGen TOPMed |
|
|
rs772758273 CA3775724 |
268 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3775723 rs771594051 |
269 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs1487964593 CA363803947 |
270 | C>R | No |
ClinGen gnomAD |
|
|
rs147094400 CA3775722 |
272 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363803935 rs147094400 |
272 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363803921 rs1267495226 |
274 | P>R | No |
ClinGen gnomAD |
|
|
rs773998145 CA3775721 |
274 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1423434971 CA363803909 |
276 | A>S | No |
ClinGen TOPMed |
|
|
CA3775720 rs768954684 |
276 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA363803891 rs1301735915 |
279 | T>A | No |
ClinGen gnomAD |
|
|
CA363803883 rs1367218531 |
280 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA3775718 rs192911481 |
283 | V>I | No |
ClinGen 1000Genomes ExAC |
|
|
rs770247853 CA3775717 |
286 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA363803833 rs1437441417 |
288 | V>A | No |
ClinGen gnomAD |
|
|
rs757441045 CA3775714 |
290 | A>G | No |
ClinGen ExAC |
|
|
CA3775716 rs141811686 |
290 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757441045 CA3775715 |
290 | A>V | No |
ClinGen ExAC |
|
|
CA3775713 rs145871916 |
292 | R>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs778153300 CA3775712 |
292 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1369905035 CA363803795 |
295 | K>R | No |
ClinGen TOPMed |
|
|
CA3775711 rs754787120 |
297 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs766309755 CA363803749 |
302 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3775709 rs766309755 |
302 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3775708 rs373168711 |
302 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3775710 rs766309755 |
302 | N>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs766948763 CA3775706 |
303 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750392845 CA3775707 |
303 | Q>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1465012120 CA363803742 |
303 | Q>R | No |
ClinGen gnomAD |
|
| TCGA novel | 305 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363803712 rs1203253324 |
307 | E>V | No |
ClinGen gnomAD |
|
|
rs1562052933 CA363803686 |
311 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
| TCGA novel | 312 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA137353627 rs914779823 |
313 | F>L | No |
ClinGen TOPMed |
|
|
rs762467882 CA3775684 |
316 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs906825144 CA137346855 |
317 | G>V | No |
ClinGen TOPMed |
|
|
CA137346847 rs1025653805 |
318 | F>V | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 319 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs149769574 CA3775683 |
319 | T>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149769574 CA137346803 |
319 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1395967010 CA363802937 |
321 | I>T | No |
ClinGen gnomAD |
|
|
CA3775682 rs765456205 |
323 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1400682181 CA363802903 |
326 | S>N | No |
ClinGen TOPMed |
|
|
CA3775681 rs759994640 |
327 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3775680 rs777267187 |
329 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs771634396 CA3775679 |
330 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1369604879 CA363802879 |
330 | E>K | No |
ClinGen gnomAD |
|
|
CA3775678 rs747055365 |
332 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363802852 rs1368544475 |
333 | Q>H | No |
ClinGen gnomAD |
|
|
rs1186676623 CA363802851 |
334 | T>A | No |
ClinGen gnomAD |
|
|
CA3775677 rs377430788 |
334 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs377430788 CA363802847 |
334 | T>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363802842 rs1182677802 |
335 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs748250825 CA3775675 |
338 | M>V | No |
ClinGen ExAC TOPMed |
|
|
rs779208405 CA3775674 |
339 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1281112748 CA363802809 |
340 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3775673 rs755846316 |
341 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
rs868340920 CA137346714 |
342 | S>N | No |
ClinGen Ensembl |
|
|
rs1282948053 CA363802753 |
345 | L>I | No |
ClinGen TOPMed |
|
|
CA363802715 rs1331363729 |
348 | T>I | No |
ClinGen gnomAD |
|
|
CA3775651 rs777783724 |
351 | F>I | No |
ClinGen ExAC |
|
|
CA363802673 rs1359573576 |
352 | S>R | No |
ClinGen gnomAD |
|
|
CA137343814 rs1021385991 |
352 | S>T | No |
ClinGen Ensembl |
|
|
CA3775650 rs757836477 |
354 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1159731037 CA363802635 |
355 | P>R | No |
ClinGen gnomAD |
|
|
CA3775649 rs752320463 |
355 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs767868363 CA3775648 |
356 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137343780 rs1011478521 |
360 | Q>K | No |
ClinGen gnomAD |
|
|
CA3775646 rs753567658 |
361 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs369820117 CA137343773 |
362 | F>L | No |
ClinGen ESP TOPMed |
|
|
CA137343770 rs956133072 |
363 | S>P | No |
ClinGen gnomAD |
|
|
CA363802541 rs1562039090 |
363 | S>Y | No |
ClinGen Ensembl |
|
|
rs766782790 CA3775644 |
364 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs974190662 CA137343760 |
366 | L>S | No |
ClinGen TOPMed |
|
|
CA363802502 rs1581654233 |
367 | V>M | No |
ClinGen Ensembl |
|
|
CA363802422 rs1192029084 |
373 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA3775641 rs563497493 |
373 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363802402 rs1488085892 |
375 | L>P | No |
ClinGen gnomAD |
|
|
CA3775640 rs151057676 |
376 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3775638 rs768742066 |
377 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
CA363802373 rs1302327823 |
378 | K>R | No |
ClinGen gnomAD |
|
|
rs1320672841 CA363802361 |
379 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA3775637 rs550588031 |
379 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs775698341 CA3775636 |
381 | S>N | No |
ClinGen ExAC |
|
|
rs887972884 CA137343694 |
386 | S>C | No |
ClinGen TOPMed |
|
|
rs887972884 CA137343700 |
386 | S>R | No |
ClinGen TOPMed |
|
|
CA363802298 rs1402537887 |
388 | N>D | No |
ClinGen TOPMed |
|
|
CA363802295 rs1343406335 |
388 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs988878281 CA137343691 |
390 | N>S | No |
ClinGen TOPMed |
|
|
CA363802278 rs1449356689 |
391 | Q>K | No |
ClinGen TOPMed |
|
|
CA137343690 rs1049238385 |
391 | Q>L | No |
ClinGen gnomAD |
|
| TCGA novel | 392 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 393 | L>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363802043 rs1562037149 |
395 | A>D | No |
ClinGen Ensembl |
|
|
rs1051710959 CA137342402 |
395 | A>S | No |
ClinGen Ensembl |
|
|
rs1409521940 CA363802036 |
396 | I>T | No |
ClinGen gnomAD |
|
|
CA363802039 rs1581651619 |
396 | I>V | No |
ClinGen Ensembl |
|
|
CA3775610 rs779007673 |
397 | G>S | No |
ClinGen ExAC gnomAD |
|
|
CA363802026 rs1466593915 |
398 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs748872669 CA137342394 |
401 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs748872669 CA3775608 |
401 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3775609 rs768267988 |
401 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3775606 rs368170044 |
402 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363801982 rs1274981733 |
405 | F>V | No |
ClinGen gnomAD |
|
|
CA137342393 rs989481929 |
407 | R>S | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 408 | S>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1305197771 CA363801952 |
409 | C>S | No |
ClinGen gnomAD |
|
|
rs1291428849 CA363801947 |
410 | V>M | No |
ClinGen gnomAD |
|
|
CA3775605 rs745526569 |
413 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3775604 rs757570864 |
415 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1291183023 CA363801913 |
415 | I>M | No |
ClinGen gnomAD |
|
|
rs757570864 CA3775603 |
415 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3775602 rs752009716 |
416 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA363801907 rs1352555119 |
417 | R>G | No |
ClinGen gnomAD |
|
|
CA363801897 rs1311410688 |
418 | T>N | No |
ClinGen TOPMed |
|
|
CA3775600 rs758471827 |
420 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs752815585 CA3775599 |
422 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1462399075 CA363801857 |
424 | S>T | No |
ClinGen gnomAD |
|
|
rs759754981 CA3775597 |
425 | G>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs765425794 CA3775598 |
425 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3775596 rs776751089 |
429 | Q>* | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 429 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754076326 CA3775577 |
432 | S>A | No |
ClinGen ExAC gnomAD |
|
|
rs1236678090 CA363801748 |
432 | S>C | No |
ClinGen gnomAD |
|
|
CA3775575 rs761635503 |
434 | V>G | No |
ClinGen ExAC gnomAD |
|
|
rs766577082 CA3775576 |
434 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs575429225 CA3775572 |
436 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA363801697 rs1437862786 |
437 | G>V | No |
ClinGen gnomAD |
|
|
rs775569144 CA3775571 |
438 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA3775570 rs182055577 |
439 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs890541007 CA137338023 |
441 | L>F | No |
ClinGen Ensembl |
|
| TCGA novel | 443 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 444 | V>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363801617 rs1581643695 |
445 | K>N | No |
ClinGen Ensembl |
|
| TCGA novel | 446 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA137338022 rs1051831737 |
446 | M>V | No |
ClinGen Ensembl |
|
|
rs535421831 CA3775569 |
447 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs932154783 CA137338021 |
451 | Y>C | No |
ClinGen Ensembl |
|
|
CA363801557 rs1361261362 |
451 | Y>H | No |
ClinGen gnomAD |
|
|
CA363801542 rs1453447603 |
452 | T>R | No |
ClinGen gnomAD |
|
|
CA363801518 rs1189990531 |
455 | N>D | No |
ClinGen gnomAD |
|
|
CA3775553 rs765158766 |
461 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 463 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3775552 rs201957816 |
464 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363800947 rs1340083675 |
466 | V>D | No |
ClinGen gnomAD |
|
|
rs192321943 CA3775550 |
466 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3775548 rs772856358 |
468 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363800919 rs1223488359 |
468 | P>L | No |
ClinGen TOPMed |
|
|
CA363800927 rs772856358 |
468 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363800912 rs1581636118 |
469 | Y>S | No |
ClinGen Ensembl |
|
|
rs373313189 CA3775547 |
470 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1581636110 CA363800873 |
472 | T>P | No |
ClinGen Ensembl |
|
|
CA363800861 rs1294272370 |
473 | I>L | No |
ClinGen gnomAD |
|
|
CA363800850 rs1562025643 |
473 | I>T | No |
ClinGen Ensembl |
|
|
CA363800856 rs1294272370 |
473 | I>V | No |
ClinGen gnomAD |
|
|
rs1414618441 CA363800824 |
475 | N>T | No |
ClinGen gnomAD |
|
|
rs1353176113 CA363800816 |
476 | L>I | No |
ClinGen gnomAD |
|
|
CA363800810 rs1309398575 |
476 | L>P | No |
ClinGen gnomAD |
|
|
rs779444566 CA3775544 |
478 | S>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 479 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA137330422 rs868473796 |
480 | W>* | No |
ClinGen Ensembl |
|
|
CA363800715 rs1165690731 |
483 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 484 | Q>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs964855171 CA137329246 |
488 | A>G | No |
ClinGen gnomAD |
|
|
CA3775526 rs565898702 |
488 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363800523 rs565898702 |
488 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs964855171 CA363800513 |
488 | A>V | No |
ClinGen gnomAD |
|
|
rs1032623115 CA363800509 |
489 | L>F | No |
ClinGen TOPMed |
|
|
rs1032623115 CA137329235 |
489 | L>V | No |
ClinGen TOPMed |
|
|
CA363800456 rs1581634524 |
492 | M>T | No |
ClinGen Ensembl |
|
|
CA3775524 rs769092555 |
493 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA3775522 rs776073302 |
495 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769977831 CA3775521 |
496 | S>P | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs116528901 RCV000883816 CA3775519 |
498 | I>V | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1236054427 CA363800341 |
501 | G>* | No |
ClinGen gnomAD |
|
|
rs1236054427 CA363800345 |
501 | G>R | No |
ClinGen gnomAD |
|
|
CA363800328 rs1371025872 |
502 | L>P | No |
ClinGen gnomAD |
|
|
CA3775518 rs757605023 |
503 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747281174 CA3775517 |
504 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747281174 CA363800311 |
504 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137329136 rs1020370881 |
506 | L>R | No |
ClinGen Ensembl |
|
| TCGA novel | 507 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754809213 CA3775515 |
509 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1297427205 CA363800198 |
513 | A>T | No |
ClinGen TOPMed |
|
|
rs1382515925 CA363800158 |
515 | F>S | No |
ClinGen gnomAD |
|
|
rs753660355 CA3775514 |
516 | I>S | No |
ClinGen ExAC gnomAD |
|
|
rs766361815 CA3775513 |
517 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA3775511 rs755589263 |
517 | T>N | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 518 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1193138899 CA363800119 |
518 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1193138899 CA363800120 |
518 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3775510 rs749983760 |
520 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs571951265 CA3775509 |
520 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA137329011 rs571951265 |
520 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363800107 rs749983760 |
520 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761331197 CA3775508 |
523 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs774054057 CA3775507 |
523 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs769348959 CA3775495 |
526 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs769348959 CA3775496 |
526 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA137328888 rs1037665859 |
529 | L>P | No |
ClinGen Ensembl |
|
|
rs750390863 CA3775493 |
529 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs766944428 CA3775492 |
532 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3775491 rs756801565 |
533 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA363799799 rs756801565 |
533 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA363799768 rs1485787829 |
535 | T>A | No |
ClinGen gnomAD |
|
|
CA363799697 rs751155856 |
538 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs763871315 CA3775489 |
539 | R>K | No |
ClinGen ExAC gnomAD |
|
|
CA363799675 rs1213882528 |
540 | S>N | No |
ClinGen gnomAD |
|
|
CA363799658 rs1337417907 |
542 | N>H | No |
ClinGen gnomAD |
|
|
rs115224596 CA3775488 |
542 | N>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA137328866 rs907751371 |
543 | D>N | No |
ClinGen TOPMed |
|
|
rs142348124 CA3775486 |
545 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3775487 rs371767526 |
545 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1163172753 CA363798857 |
547 | I>M | No |
ClinGen gnomAD |
|
|
rs1417546526 CA363798858 |
547 | I>N | No |
ClinGen gnomAD |
|
|
rs758022953 CA3775469 |
548 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1562023245 CA363798840 |
550 | I>T | No |
ClinGen Ensembl |
|
|
rs765631477 CA3775466 |
553 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3775465 rs754385740 |
558 | C>G | No |
ClinGen ExAC gnomAD |
|
|
CA3775464 rs754385740 |
558 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1346004044 CA363798738 |
560 | S>R | No |
ClinGen TOPMed |
|
|
CA3775463 rs766978287 |
562 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs984824086 CA137328095 |
566 | N>S | No |
ClinGen Ensembl |
|
|
rs1581632928 CA363798611 |
567 | V>D | No |
ClinGen Ensembl |
|
|
rs1271013925 CA363798618 |
567 | V>I | No |
ClinGen gnomAD |
|
|
rs1026038576 CA137328094 |
569 | Y>D | No |
ClinGen gnomAD |
|
|
rs1026038576 CA363798582 |
569 | Y>H | No |
ClinGen gnomAD |
|
| TCGA novel | 570 | L>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3775461 rs773291467 |
571 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs975929995 CA137328079 |
577 | E>D | No |
ClinGen TOPMed |
|
|
rs75822578 CA3775438 RCV000970981 |
578 | V>A | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA363798357 rs1330855990 |
578 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA12267334 rs1402065519 |
579 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs200071824 CA3775437 |
580 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3775436 rs534402044 |
581 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs748821012 CA3775434 CA363798307 |
582 | K>N | No |
ClinGen TOPMed |
|
|
rs770148950 CA3775433 |
583 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs770148950 CA3775432 |
583 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA137327951 rs867659983 COSM461778 |
586 | K>I | cervix Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
| TCGA novel | 587 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1375443264 CA363798267 |
589 | E>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA363798248 rs1233485291 |
591 | F>S | No |
ClinGen TOPMed |
|
|
rs1191302600 CA363798208 |
596 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1394687560 CA363798206 |
597 | S>G | No |
ClinGen TOPMed |
|
|
rs778678726 CA3775429 |
600 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1056456705 CA137327947 |
600 | N>S | No |
ClinGen Ensembl |
|
|
rs1174280749 CA363798174 |
602 | Q>E | No |
ClinGen gnomAD |
|
|
CA3775427 rs186939060 |
602 | Q>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3775428 rs186939060 |
602 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376774482 CA3775425 |
603 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3775426 rs780398749 |
603 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1230215521 CA363798162 |
604 | G>A | No |
ClinGen gnomAD |
|
|
CA3775424 rs750925624 |
604 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA363798150 rs767972512 |
606 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 606 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3775423 rs767972512 |
606 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 607 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs566209205 CA3775420 |
609 | C>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs566209205 CA3775421 |
609 | C>Y | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3775419 rs763123584 |
617 | E>G | No |
ClinGen ExAC |
|
|
rs149456040 CA3775418 |
618 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363798054 rs1369744113 |
620 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 623 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3775393 rs760488780 |
623 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA363797591 rs1237673010 |
627 | R>* | No |
ClinGen TOPMed gnomAD |
|
|
rs566366898 CA363797589 |
627 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA3775391 rs566366898 |
627 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369781000 CA3775390 |
629 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA3775389 rs774442692 |
630 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA3775388 rs768268138 |
632 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1408779143 CA363797524 |
633 | D>Y | No |
ClinGen TOPMed |
|
|
rs1440545204 CA363797509 |
634 | P>A | No |
ClinGen TOPMed |
|
|
CA137325340 rs867882525 |
635 | E>D | No |
ClinGen Ensembl |
|
|
rs142738122 CA3775386 |
635 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3775385 rs375526103 |
636 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1375463469 CA363797456 |
638 | S>C | No |
ClinGen gnomAD |
|
|
rs17845763 CA137325330 |
639 | I>N | No |
ClinGen Ensembl |
|
|
rs17845763 CA137325316 |
639 | I>S | No |
ClinGen Ensembl |
|
|
VAR_039467 CA3775384 rs2295852 |
639 | I>V | not a cause of male infertility [UniProt] | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA363797421 rs1224367940 |
641 | L>P | No |
ClinGen TOPMed |
|
|
CA363797410 rs1371712728 |
642 | I>T | No |
ClinGen gnomAD |
|
|
rs1403320539 CA363797395 |
643 | H>R | No |
ClinGen gnomAD |
|
|
rs1265295988 CA363797378 |
644 | C>* | No |
ClinGen TOPMed |
|
|
CA3775381 rs747461096 |
644 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA3775380 rs778315210 |
645 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1379735962 CA363797364 |
646 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 648 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs779175707 CA3775377 |
649 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1254257382 CA363797324 |
650 | M>V | No |
ClinGen gnomAD |
|
|
CA363797315 rs1198784390 |
651 | N>D | No |
ClinGen gnomAD |
|
|
CA363797281 rs1480931968 |
655 | T>I | No |
ClinGen TOPMed |
|
|
rs1178395346 CA363797280 |
656 | A>S | No |
ClinGen TOPMed |
|
|
rs754115798 CA3775375 COSM285060 |
657 | S>F | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs767361951 CA3775374 |
658 | E>K | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA137325278 rs925276020 |
659 | D>E | No |
ClinGen TOPMed |
|
|
CA3775373 rs761756989 |
661 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs937339162 CA137325262 |
663 | Y>C | No |
ClinGen gnomAD |
|
|
CA363797229 rs1434239129 |
664 | T>P | No |
ClinGen gnomAD |
|
|
CA3775371 rs764162395 |
664 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA363797217 rs1581627615 |
665 | V>I | No |
ClinGen Ensembl |
|
|
CA363797190 rs1562019525 |
666 | S>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA363797201 rs1400814116 |
666 | S>P | No |
ClinGen gnomAD |
|
|
CA3775368 rs769374548 |
667 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 668 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3775364 rs771275420 |
668 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141797526 COSM1078454 CA3775366 |
668 | V>M | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3775362 rs778221619 |
669 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3775360 rs772505303 |
672 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA3775357 rs148376118 |
675 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3775356 rs755098413 |
676 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs143407739 CA137325213 |
676 | Q>H | No |
ClinGen ESP TOPMed |
|
|
rs754099409 CA3775355 |
676 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758016136 CA3775354 |
677 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137325208 rs904812456 |
679 | E>D | No |
ClinGen Ensembl |
|
|
CA3775351 rs763969380 |
683 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA363796892 rs1217859361 |
684 | W>S | No |
ClinGen TOPMed gnomAD |
|
|
CA3775349 rs149134636 |
686 | P>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 689 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3775347 rs200648238 |
692 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 692 | N>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3775346 rs113631099 |
693 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363796812 rs1333644820 |
696 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1333644820 CA363796810 |
696 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3775345 rs766060468 |
699 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA3775343 rs550582798 |
700 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs761005477 CA3775344 |
700 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs772520541 CA363796784 |
701 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772520541 COSM2152923 CA3775342 |
701 | A>V | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1236361563 CA363796779 |
702 | E>G | No |
ClinGen gnomAD |
|
|
CA3775340 rs774979134 |
702 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137325140 rs955148874 |
703 | S>N | No |
ClinGen TOPMed |
|
|
rs1207485459 CA363796758 |
705 | G>W | No |
ClinGen gnomAD |
|
| TCGA novel | 706 | R>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1273547892 CA363796751 |
706 | R>K | No |
ClinGen gnomAD |
|
|
rs768612764 CA3775337 |
708 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1269322001 CA363796728 |
710 | I>V | No |
ClinGen TOPMed |
|
|
rs1362387905 CA363796720 |
711 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1235340254 CA363796691 |
715 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs780397612 CA3775335 |
716 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1291405078 CA363796673 |
719 | P>S | No |
ClinGen TOPMed |
|
|
CA3775334 rs756352601 |
722 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA3775332 rs777362756 |
723 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs777362756 CA3775333 |
723 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA137325105 rs905649821 |
724 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763291737 CA137325100 |
729 | S>F | No |
ClinGen Ensembl |
|
| TCGA novel | 730 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs758229360 CA363796599 |
730 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758229360 CA3775331 |
730 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1398519326 CA363796601 |
730 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA3775330 rs559176786 |
731 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA137325061 rs145161622 |
732 | H>D | No |
ClinGen ESP TOPMed |
|
|
CA363796587 rs1179764192 |
732 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA3775328 rs754457861 |
732 | H>R | No |
ClinGen ExAC |
|
|
rs145161622 CA137325066 |
732 | H>Y | No |
ClinGen ESP TOPMed |
|
|
CA3775327 rs765897190 |
733 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137325054 rs904244938 |
733 | Y>H | No |
ClinGen Ensembl |
|
|
CA3775325 rs138344479 CA137325048 |
734 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs138344479 CA3775324 |
734 | V>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1265824 CA3775322 rs200862862 |
737 | R>Q | Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA3775323 rs371474067 |
737 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363796553 rs1169555628 |
739 | L>I | No |
ClinGen gnomAD |
|
|
rs140565578 COSM1444049 CA3775317 |
741 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs140565578 CA3775318 |
741 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1289350936 CA363796526 |
743 | R>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs772845742 CA3775292 |
746 | C>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363795684 rs1280584574 |
747 | N>K | No |
ClinGen TOPMed |
|
|
rs375415581 CA3775291 |
748 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363795677 rs1376202790 |
748 | A>T | No |
ClinGen TOPMed |
|
|
CA363795612 rs1279672723 |
750 | Q>K | No |
ClinGen TOPMed |
|
|
COSM186514 rs568126801 CA3775289 |
752 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA363795434 rs1213287546 |
756 | I>M | No |
ClinGen TOPMed |
|
|
CA363795448 rs1323665977 |
756 | I>V | No |
ClinGen gnomAD |
|
|
rs1302970079 CA363795428 |
757 | L>V | No |
ClinGen gnomAD |
|
|
rs756893705 CA3775287 |
759 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA3775286 rs751174367 |
760 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751174367 CA137323245 |
760 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1423266005 CA363795176 |
763 | S>Y | No |
ClinGen gnomAD |
|
|
rs1254204528 CA363795113 |
765 | I>T | No |
ClinGen gnomAD |
|
|
rs146819478 CA137323164 |
766 | V>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA3775268 rs564834835 |
768 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1295589665 CA363794996 |
769 | F>L | No |
ClinGen TOPMed |
|
|
rs765719288 CA3775265 |
773 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs912786844 CA137323138 |
773 | D>N | No |
ClinGen gnomAD |
|
|
CA137323133 rs953043420 COSM1078452 |
774 | F>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA363794923 rs1196653127 COSM1078452 |
774 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA363794891 rs1310870930 |
775 | F>L | No |
ClinGen gnomAD |
|
| TCGA novel | 776 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3775263 rs531138938 |
777 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA363794854 rs1462763369 |
778 | G>D | No |
ClinGen gnomAD |
|
|
CA363794859 rs1329228229 |
778 | G>S | No |
ClinGen gnomAD |
|
|
CA363794790 rs1211732956 |
782 | T>N | No |
ClinGen TOPMed |
|
|
CA3775261 rs760727575 |
788 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA137323106 rs957994981 |
789 | H>Y | No |
ClinGen Ensembl |
|
|
rs767772396 CA3775259 |
790 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA3775257 rs775225736 COSM1078451 |
791 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs115071158 CA3775255 COSM742207 |
792 | V>M | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1453636905 CA363794588 |
795 | A>T | No |
ClinGen gnomAD |
|
|
CA363794553 rs1162301941 |
797 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs865839546 CA137323081 |
800 | V>I | No |
ClinGen Ensembl |
|
|
CA363794494 rs1353885036 |
801 | I>L | No |
ClinGen gnomAD |
|
|
rs776488829 CA3775253 |
804 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201485711 CA137323053 |
806 | L>I | No |
ClinGen 1000Genomes |
|
|
CA363794426 rs1352345625 |
808 | I>T | No |
ClinGen gnomAD |
|
|
CA3775252 rs770472944 |
808 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA3775249 rs758075213 |
809 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363794423 rs114153657 |
809 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA3775250 rs114153657 RCV000974518 |
809 | D>N | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs868619414 CA137323034 |
811 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA363794392 rs1160687906 |
813 | T>I | No |
ClinGen gnomAD |
|
|
rs755314326 CA3775247 |
815 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3775245 rs116200048 |
816 | R>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
RCV000971363 rs116200048 CA3775244 |
816 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA3775246 rs754358341 |
816 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750450160 CA3775243 |
817 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363794351 rs1449514902 |
820 | S>L | No |
ClinGen gnomAD |
|
|
CA363794355 rs1198676789 |
820 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA3775242 rs767611050 |
823 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1216908205 CA363794324 |
824 | K>M | No |
ClinGen gnomAD |
|
| TCGA novel | 826 | D>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750073209 CA137320059 |
826 | D>E | No |
ClinGen Ensembl |
|
|
CA3775219 rs759354665 |
829 | R>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363793168 rs759354665 |
829 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3775218 rs568128778 |
830 | Y>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs760627909 CA3775216 |
831 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs773299771 CA3775215 |
832 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA3775214 rs546949071 |
833 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs951862266 CA137320045 |
834 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA363793130 rs1424693603 |
834 | S>R | No |
ClinGen TOPMed |
|
|
CA137320044 rs764892860 |
838 | G>E | No |
ClinGen Ensembl |
|
|
rs764892860 CA137320041 |
838 | G>V | No |
ClinGen Ensembl |
|
|
CA3775213 rs147340546 |
840 | Q>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA363793089 rs774029662 |
841 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3775211 rs774029662 |
841 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1177384804 CA363793086 |
841 | K>R | No |
ClinGen gnomAD |
|
| TCGA novel | 842 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA363793065 rs1562011112 |
844 | S>N | No |
ClinGen Ensembl |
|
|
rs1427695282 CA363793059 |
845 | P>A | No |
ClinGen TOPMed |
|
|
CA363793056 rs1271212606 |
845 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA363793050 rs748997621 |
846 | G>A | No |
ClinGen ExAC gnomAD |
|
|
rs748997621 CA3775209 |
846 | G>V | No |
ClinGen ExAC gnomAD |
|
|
CA363793044 rs1371139728 |
847 | F>C | No |
ClinGen TOPMed |
|
|
CA3775208 rs780212413 |
848 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3775206 rs142704837 |
850 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3775207 rs770157059 |
850 | I>T | No |
ClinGen ExAC |
|
| TCGA novel | 851 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA3775204 rs757294120 |
851 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1366464281 CA363793013 |
852 | Q>* | No |
ClinGen TOPMed |
|
|
CA3775203 rs751640773 |
853 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA3775202 rs115757327 |
856 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1303785333 CA363792980 |
857 | E>Q | No |
ClinGen TOPMed |
|
|
rs758509513 CA3775201 |
858 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA3775199 rs766033177 |
859 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA363792958 rs1484348717 |
860 | L>S | No |
ClinGen TOPMed |
|
|
rs750383316 CA3775197 |
861 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs147178909 CA3775198 |
861 | D>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1238785974 CA363792939 |
863 | E>* | No |
ClinGen gnomAD |
|
|
CA3775195 rs761861209 |
867 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA3775194 rs773691088 |
868 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
rs763660020 CA3775193 |
868 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA363792898 rs1355933746 |
869 | E>G | No |
ClinGen gnomAD |
|
|
rs762455280 CA3775192 |
869 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs775271646 CA3775191 |
870 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA3775189 rs746269757 |
872 | L>Q | No |
ClinGen ExAC gnomAD |
|
|
rs777102610 CA3775188 |
873 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs917831718 CA137319899 |
873 | G>V | No |
ClinGen Ensembl |
|
|
CA3775187 rs531131699 |
874 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1167784226 CA363792860 |
876 | L>P | No |
ClinGen TOPMed |
|
|
rs1380349469 CA363792843 |
879 | D>A | No |
ClinGen gnomAD |
|
|
CA3775184 rs777648550 |
879 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1380349469 CA363792841 |
879 | D>V | No |
ClinGen gnomAD |
|
|
CA3775183 rs138910476 |
880 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363792837 rs1158010434 |
880 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA137319879 rs550711405 |
883 | E>Q | No |
ClinGen 1000Genomes |
|
|
rs1191488527 CA363792810 |
884 | P>L | No |
ClinGen gnomAD |
|
|
rs748309911 CA3775182 |
884 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs959402924 CA137319874 |
885 | E>V | No |
ClinGen Ensembl |
|
|
rs750191047 CA3775179 |
887 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA3775180 rs755944971 |
887 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767449839 CA3775178 |
888 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757072385 CA3775177 |
889 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA363792779 rs1436687606 |
889 | K>R | No |
ClinGen TOPMed |
|
|
rs751525175 CA3775176 |
890 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3662471 rs763497134 CA3775175 |
893 | E>K | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs762591175 CA3775174 |
894 | T>I | No |
ClinGen ExAC |
|
|
rs1220240078 CA363792743 |
895 | K>E | No |
ClinGen gnomAD |
|
|
rs1298871710 CA363792740 |
895 | K>R | No |
ClinGen TOPMed |
|
|
CA363792735 rs1367325207 |
896 | T>A | No |
ClinGen gnomAD |
|
|
CA363792731 rs1222570798 |
896 | T>I | No |
ClinGen Ensembl |
|
|
CA3775171 rs142760708 |
899 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs961417425 CA137319825 |
899 | E>D | No |
ClinGen Ensembl |
|
|
CA363792710 rs1296982666 |
900 | M>L | No |
ClinGen gnomAD |
|
|
rs1451553110 CA363792699 |
901 | E>* | No |
ClinGen gnomAD |
|
|
rs1360892620 CA363792695 |
901 | E>D | No |
ClinGen gnomAD |
|
|
rs761201891 CA137319823 |
902 | P>A | No |
ClinGen Ensembl |
|
|
CA3775170 rs372767707 |
903 | Q>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA137319819 rs368843251 |
905 | E>* | No |
ClinGen ESP TOPMed |
|
|
rs113781963 CA3775169 |
907 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs747416961 CA3775168 |
908 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA363792650 rs1197574150 |
909 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 909 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs865836060 CA137319803 |
910 | M>I | No |
ClinGen Ensembl |
|
|
CA3775166 rs61741366 |
912 | P>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA363792615 rs1204562125 |
913 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA137319783 rs955848731 |
914 | P>H | No |
ClinGen Ensembl |
|
|
CA363792613 rs1468024672 |
914 | P>T | No |
ClinGen gnomAD |
|
|
CA363792595 rs1484930540 |
916 | S>F | No |
ClinGen gnomAD |
|
|
rs1028572418 CA137319772 |
917 | R>G | No |
ClinGen gnomAD |
|
|
CA363792582 rs1581615923 |
919 | R>G | No |
ClinGen Ensembl |
|
| TCGA novel | 919 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs997470788 CA137319767 |
924 | P>L | No |
ClinGen Ensembl |
|
|
rs866682176 COSM1754760 CA137319758 |
925 | Q>* | urinary_tract [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
COSM1078448 CA3775164 rs564267631 |
927 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs371431327 CA3775163 |
927 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA363792466 rs1161412400 |
928 | Y>H | No |
ClinGen TOPMed |
|
|
CA363792437 rs1412392021 |
929 | W>C | No |
ClinGen TOPMed |
|
|
CA363792418 rs1581615867 |
931 | M>L | No |
ClinGen Ensembl |
|
|
rs749523584 CA3775162 |
933 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs200359080 CA3775161 |
934 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA3775158 rs145617232 |
936 | M>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757824045 CA3775157 |
938 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA363792293 rs1581615808 |
938 | S>P | No |
ClinGen Ensembl |
|
|
CA363792283 rs1581615793 |
939 | T>P | No |
ClinGen Ensembl |
|
|
CA3775155 rs764760105 |
940 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752155289 CA363792260 |
940 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752155289 CA3775156 |
940 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200264081 CA137319720 |
941 | S>C | No |
ClinGen 1000Genomes |
|
|
rs1042278018 CA137319718 |
944 | Q>K | No |
ClinGen Ensembl |
|
|
rs201547554 CA3775153 |
946 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA363792143 rs1183742240 |
948 | W>G | No |
ClinGen TOPMed gnomAD |
|
|
CA363792145 rs1183742240 COSM1292305 |
948 | W>R | haematopoietic_and_lymphoid_tissue [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA363792119 rs1055058342 CA137319701 |
949 | S>* | No |
ClinGen gnomAD |
|
|
rs767809410 CA137319696 |
952 | R>K | No |
ClinGen gnomAD |
|
|
CA3775149 rs772686449 |
954 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs762255127 CA3775148 |
955 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774503713 CA3775147 |
956 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs768866410 CA3775146 |
957 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs146813930 CA137319688 |
957 | M>V | No |
ClinGen ESP gnomAD |
|
|
CA363792016 rs1250462732 |
958 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA3775145 rs749505029 |
960 | Y>* | No |
ClinGen ExAC gnomAD |
|
|
rs1224752648 CA363791987 |
960 | Y>C | No |
ClinGen gnomAD |
|
|
rs1395397663 CA363791930 |
964 | G>A | No |
ClinGen gnomAD |
|
|
RCV000905722 CA3775144 rs191020229 |
965 | N>S | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 968 | E>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368090823 CA137319684 |
969 | D>Y | No |
ClinGen Ensembl |
|
|
CA3775142 rs746868103 |
970 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA3775143 rs770601228 |
970 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
1 associated diseases with Q96RN1
[MIM: 606766]: Spermatogenic failure 3 (SPGF3)
A disorder characterized by primary infertility, sperm morphologic abnormalities, and moderate to severe asthenozoospermia, condition in which the percentage of progressively motile sperm is abnormally low. {ECO:0000269|PubMed:23582645}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A disorder characterized by primary infertility, sperm morphologic abnormalities, and moderate to severe asthenozoospermia, condition in which the percentage of progressively motile sperm is abnormally low. {ECO:0000269|PubMed:23582645}. Note=The disease is caused by variants affecting the gene represented in this entry.
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| 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. |
| 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 |
|---|---|
| bicarbonate transmembrane transporter activity | Enables the transfer of bicarbonate from one side of a membrane to the other. Bicarbonate is the hydrogencarbonate ion, HCO3-. |
| chloride channel activity | Enables the facilitated diffusion of a chloride (by an energy-independent process) involving passage through a transmembrane aqueous pore or channel without evidence for a carrier-mediated mechanism. |
| chloride transmembrane transporter activity | Enables the transfer of chloride ions from one side of a membrane to the other. |
| oxalate transmembrane transporter activity | Enables the transfer of oxalate from one side of a membrane to the other. Oxalate, or ethanedioic acid, occurs in many plants and is highly toxic to animals. |
| sulfate transmembrane transporter activity | Enables the transfer of sulfate ions, SO4(2-), from one side of a membrane to the other. |
7 GO annotations of biological process
| Name | Definition |
|---|---|
| anion transport | The directed movement of anions, atoms or small molecules with a net negative charge, into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| chloride transport | The directed movement of chloride into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
| flagellated sperm motility | The directed, self-propelled movement of a cilium (aka flagellum) that contributes to the movement of a flagellated sperm. |
| meiotic cell cycle | Progression through the phases of the meiotic cell cycle, in which canonically a cell replicates to produce four offspring with half the chromosomal content of the progenitor cell via two nuclear divisions. |
| oxalate transport | The directed movement of oxalate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Oxalate, or ethanedioic acid, occurs in many plants and is highly toxic to animals. |
| sperm capacitation | A process required for sperm to reach fertilization competence. Sperm undergo an incompletely understood series of morphological and molecular maturational processes, termed capacitation, involving, among other processes, protein tyrosine phosphorylation and increased intracellular calcium. |
| sulfate transport | The directed movement of sulfate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. |
15 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| A6QNW6 | SLC26A8 | Testis anion transporter 1 | Bos taurus (Bovine) | PR |
| P50443 | SLC26A2 | Sulfate transporter | Homo sapiens (Human) | PR |
| P58743 | SLC26A5 | Prestin | Homo sapiens (Human) | PR |
| Q8TE54 | SLC26A7 | Anion exchange transporter | Homo sapiens (Human) | PR |
| Q86WA9 | SLC26A11 | Sodium-independent sulfate anion transporter | Homo sapiens (Human) | PR |
| Q9R155 | Slc26a4 | Pendrin | Mus musculus (Mouse) | PR |
| Q9WVC8 | Slc26a3 | Chloride anion exchanger | Mus musculus (Mouse) | PR |
| Q99NH7 | Slc26a5 | Prestin | Mus musculus (Mouse) | PR |
| Q8R0C3 | Slc26a8 | Testis anion transporter 1 | Mus musculus (Mouse) | PR |
| Q924C9 | Slc26a3 | Chloride anion exchanger | Rattus norvegicus (Rat) | PR |
| Q9EPH0 | Slc26a5 | Prestin | Rattus norvegicus (Rat) | PR |
| Q02920 | Early nodulin-70 | Glycine max (Soybean) (Glycine hispida) | PR | |
| Q9SV13 | SULTR3;1 | Sulfate transporter 3.1 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q9FY46 | SULTR4;1 | Sulfate transporter 4.1, chloroplastic | Arabidopsis thaliana (Mouse-ear cress) | PR |
| Q8GYH8 | SULTR4;2 | Probable sulfate transporter 4.2 | Arabidopsis thaliana (Mouse-ear cress) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAQLERSAIS | GFSSKSRRNS | FAYDVKREVY | NEETFQQEHK | RKASSSGNMN | INITTFRHHV |
| 70 | 80 | 90 | 100 | 110 | 120 |
| QCRCSWHRFL | RCVLTIFPFL | EWMCMYRLKD | WLLGDLLAGI | SVGLVQVPQG | LTLSLLARQL |
| 130 | 140 | 150 | 160 | 170 | 180 |
| IPPLNIAYAA | FCSSVIYVIF | GSCHQMSIGS | FFLVSALLIN | VLKVSPFNNG | QLVMGSFVKN |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EFSAPSYLMG | YNKSLSVVAT | TTFLTGIIQL | IMGVLGLGFI | ATYLPESAMS | AYLAAVALHI |
| 250 | 260 | 270 | 280 | 290 | 300 |
| MLSQLTFIFG | IMISFHAGPI | SFFYDIINYC | VALPKANSTS | ILVFLTVVVA | LRINKCIRIS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| FNQYPIEFPM | ELFLIIGFTV | IANKISMATE | TSQTLIDMIP | YSFLLPVTPD | FSLLPKIILQ |
| 370 | 380 | 390 | 400 | 410 | 420 |
| AFSLSLVSSF | LLIFLGKKIA | SLHNYSVNSN | QDLIAIGLCN | VVSSFFRSCV | FTGAIARTII |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QDKSGGRQQF | ASLVGAGVML | LLMVKMGHFF | YTLPNAVLAG | IILSNVIPYL | ETISNLPSLW |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RQDQYDCALW | MMTFSSSIFL | GLDIGLIISV | VSAFFITTVR | SHRAKILLLG | QIPNTNIYRS |
| 550 | 560 | 570 | 580 | 590 | 600 |
| INDYREIITI | PGVKIFQCCS | SITFVNVYYL | KHKLLKEVDM | VKVPLKEEEI | FSLFNSSDTN |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LQGGKICRCF | CNCDDLEPLP | RILYTERFEN | KLDPEASSIN | LIHCSHFESM | NTSQTASEDQ |
| 670 | 680 | 690 | 700 | 710 | 720 |
| VPYTVSSVSQ | KNQGQQYEEV | EEVWLPNNSS | RNSSPGLPDV | AESQGRRSLI | PYSDASLLPS |
| 730 | 740 | 750 | 760 | 770 | 780 |
| VHTIILDFSM | VHYVDSRGLV | VLRQICNAFQ | NANILILIAG | CHSSIVRAFE | RNDFFDAGIT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KTQLFLSVHD | AVLFALSRKV | IGSSELSIDE | SETVIRETYS | ETDKNDNSRY | KMSSSFLGSQ |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KNVSPGFIKI | QQPVEEESEL | DLELESEQEA | GLGLDLDLDR | ELEPEMEPKA | ETETKTQTEM |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EPQPETEPEM | EPNPKSRPRA | HTFPQQRYWP | MYHPSMASTQ | SQTQTRTWSV | ERRRHPMDSY |
| SPEGNSNEDV |