Q13275
PR
Gene name |
SEMA3F |
Protein name |
Semaphorin-3F |
Names |
Sema III/F, Semaphorin IV, Sema IV |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:6405 |
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 Q13275
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q13275-F1 | Predicted | AlphaFoldDB |
642 variants for Q13275
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs141286158 CA2411616 RCV001374677 |
29 | T>M | Hypogonadotropic hypogonadism [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001374676 rs768661142 CA2412087 |
452 | P>T | Hypogonadotropic hypogonadism [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001374678 RCV002537621 rs777811058 CA2412335 |
699 | R>W | Hypogonadotropic hypogonadism Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001374684 rs749838132 CA2412363 |
722 | P>L | Hypogonadotropic hypogonadism [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA2412365 RCV001374680 rs768027884 |
724 | T>M | Hypogonadotropic hypogonadism [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs768584432 CA352886529 |
2 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768584432 CA2411592 |
2 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352886543 rs1162541080 |
3 | V>L | No |
ClinGen gnomAD |
|
|
CA2411594 rs372829300 |
4 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs764991530 CA2411595 |
4 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA2411599 rs753220300 |
5 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs996733021 CA74603902 |
5 | G>V | No |
ClinGen Ensembl |
|
|
CA74603905 rs1029192625 |
6 | L>F | No |
ClinGen TOPMed |
|
|
rs868603050 CA74603915 |
7 | L>F | No |
ClinGen Ensembl |
|
|
rs1348779703 CA352886620 |
8 | L>F | No |
ClinGen TOPMed gnomAD |
|
| rs1293326621 | 8 | L>missing | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754266309 CA2411602 |
9 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs1309618309 CA352886666 |
12 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA2411604 rs2072053 |
13 | L>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2411606 CA352886693 rs61751940 |
15 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1205679329 CA352886743 |
18 | P>L | No |
ClinGen TOPMed |
|
|
CA2411608 rs747082066 |
19 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA2411607 rs140721147 |
19 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 22 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs768754151 CA2411609 |
23 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1246318233 CA352886808 |
24 | D>N | No |
ClinGen TOPMed |
|
|
rs1575372993 CA352886830 |
25 | H>P | No |
ClinGen Ensembl |
|
|
CA2411611 rs747998403 |
27 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74603973 rs762587394 |
27 | P>S | No |
ClinGen Ensembl |
|
|
CA2411614 rs762538866 |
28 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA2411615 rs766005654 |
29 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA352886880 rs1299627992 |
30 | P>A | No |
ClinGen gnomAD |
|
|
CA352886889 rs1364572533 |
30 | P>L | No |
ClinGen gnomAD |
|
|
CA352886882 rs1299627992 |
30 | P>S | No |
ClinGen gnomAD |
|
|
CA74603984 rs765808277 |
31 | R>Q | No |
ClinGen Ensembl |
|
|
rs764707701 CA2411618 |
31 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2411621 rs149285597 |
33 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1383287109 CA352886913 |
33 | R>Q | No |
ClinGen TOPMed |
|
|
rs149285597 CA2411620 |
33 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352886960 rs1281214568 |
37 | K>E | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 38 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1388978802 CA352879721 |
41 | A>T | No |
ClinGen TOPMed |
|
|
CA2411647 rs147135053 |
45 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA352879835 rs937182132 |
46 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
COSM1046414 rs367874618 CA2411648 |
47 | F>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
COSM1046414 CA2411649 rs770660254 |
47 | F>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA352879851 rs1417671122 |
47 | F>Y | No |
ClinGen gnomAD |
|
|
CA2411650 rs778564860 |
49 | N>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 50 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745455419 CA2411651 |
52 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA74587279 rs750432231 |
53 | N>S | No |
ClinGen Ensembl |
|
|
rs1377347431 CA352880059 |
54 | T>I | No |
ClinGen gnomAD |
|
|
rs1211509060 CA352880103 |
56 | D>A | No |
ClinGen gnomAD |
|
|
rs770253654 CA2411656 |
56 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs770253654 CA2411655 |
56 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1353374396 CA352880147 |
58 | R>G | No |
ClinGen gnomAD |
|
|
rs763442956 CA2411657 |
58 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2411658 rs548177299 |
62 | K>Q | No |
ClinGen 1000Genomes ExAC |
|
|
CA2411659 rs751847501 |
64 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1193551428 CA352880355 |
65 | D>E | No |
ClinGen TOPMed |
|
|
rs569980926 CA352880390 |
66 | H>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs767779495 CA2411661 |
67 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2411662 rs752763527 |
68 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA74587347 COSM1424109 rs985333083 |
68 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA2411663 rs756191868 |
69 | M>I | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 69 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1575392898 CA352880489 |
70 | Y>H | No |
ClinGen Ensembl |
|
|
rs753733068 CA2411665 |
71 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347633169 CA352880596 |
75 | D>N | No |
ClinGen TOPMed |
|
|
rs371508526 CA2411667 |
77 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA352880760 rs1236116285 |
82 | L>P | No |
ClinGen TOPMed |
|
|
CA74587371 rs745661919 |
83 | H>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758053222 CA2411670 CA2411669 |
83 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
rs745661919 CA2411668 |
83 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2411671 rs746523630 |
84 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs768172772 CA2411672 |
85 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs773862039 CA2411673 |
87 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2411674 rs749757541 |
87 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352880841 rs1428624431 |
88 | E>A | No |
ClinGen gnomAD |
|
|
rs774926819 CA2411676 |
88 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1308881337 CA352880867 |
90 | L>F | No |
ClinGen TOPMed |
|
|
rs1232955150 CA352880878 |
91 | I>F | No |
ClinGen gnomAD |
|
|
CA2411679 rs775729500 |
91 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2411707 rs150737136 |
92 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1412115038 CA352880972 |
93 | H>Y | No |
ClinGen TOPMed |
|
| TCGA novel | 94 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA74587562 rs1005611446 |
95 | A>T | No |
ClinGen TOPMed |
|
|
rs752308945 CA2411708 |
96 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA352881094 rs1398058613 |
99 | Q>L | No |
ClinGen gnomAD |
|
|
CA2411711 rs554250122 |
100 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA2411710 rs554250122 |
100 | R>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1391493383 CA352881111 |
100 | R>S | No |
ClinGen gnomAD |
|
|
CA352881242 rs1295572078 |
102 | E>D | No |
ClinGen gnomAD |
|
|
COSM1309292 CA74587579 rs991248742 |
102 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs146858928 CA2411713 |
105 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2411714 rs747370824 |
106 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74587600 rs1041428936 |
108 | G>S | No |
ClinGen TOPMed |
|
|
CA2411715 rs760150530 |
110 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA352881490 rs1249820711 |
111 | V>I | No |
ClinGen gnomAD |
|
| rs369738643 | 112 | N>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352881521 rs1232740974 |
112 | N>I | No |
ClinGen TOPMed |
|
|
rs747423827 CA352881709 |
113 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2411733 rs747423827 |
113 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2411734 rs199591994 |
113 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1464169762 CA352881727 |
114 | E>G | No |
ClinGen gnomAD |
|
|
CA2411736 rs748311285 |
114 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs149131307 CA2411738 |
119 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs762907381 CA2411739 |
121 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs112128203 CA2411742 |
123 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352881925 rs1369230895 |
124 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2411743 rs767357996 |
126 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs1268256096 CA352881978 |
127 | R>* | No |
ClinGen TOPMed |
|
|
rs752415195 CA2411744 |
127 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs760464671 CA2411745 |
129 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74587728 rs993690908 |
132 | V>M | No |
ClinGen Ensembl |
|
|
CA74587747 rs753462249 |
139 | N>K | No |
ClinGen Ensembl |
|
|
rs565188840 CA2411750 |
141 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755348562 CA2411751 |
143 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA74587805 rs1003506758 |
144 | Y>S | No |
ClinGen gnomAD |
|
|
CA2411752 rs781592621 |
145 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs748505683 CA2411753 |
147 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA2411754 rs756396183 |
147 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs756396183 CA352882397 |
147 | R>L | No |
ClinGen ExAC gnomAD |
|
|
rs770871293 CA2411757 |
148 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs1575393858 CA352882430 |
149 | R>C | No |
ClinGen Ensembl |
|
|
rs774438586 CA2411758 |
149 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352883301 rs1366983290 |
150 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
COSM241552 rs1217741408 CA352883307 |
150 | R>H | prostate [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs745746219 CA2411759 |
151 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1317704982 CA352883309 COSM1424110 |
151 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs761429476 CA2411787 |
154 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1355170401 CA352883619 |
155 | P>S | No |
ClinGen gnomAD |
|
|
CA2411788 rs764864733 |
156 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352883637 rs1227769631 |
156 | W>R | No |
ClinGen TOPMed |
|
|
CA2411789 rs374979219 |
161 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352883807 rs768032336 |
162 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2411791 rs768032336 |
162 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1354171230 CA352883883 |
164 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA2411792 rs753100848 |
165 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2411793 rs761101790 |
165 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 166 | G>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs530528855 CA74588276 |
166 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2411795 rs530528855 |
166 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs369140995 CA2411796 |
167 | S>I | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2411797 rs552156341 |
169 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs564428335 CA2411798 |
170 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 170 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1188775526 CA352884092 |
172 | G>S | No |
ClinGen gnomAD |
|
|
CA352884123 rs1390906861 |
174 | L>F | No |
ClinGen gnomAD |
|
|
CA352884131 rs1429219114 |
174 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs372800240 CA2411802 |
175 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2411804 rs138949381 |
175 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2411805 rs138949381 |
175 | R>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2411803 rs372800240 |
175 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772799248 CA2411807 |
176 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772799248 CA2411806 |
176 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352884179 rs1292102399 |
177 | M>R | No |
ClinGen TOPMed |
|
|
CA2411809 rs776081516 |
177 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA352884195 rs1270665635 |
178 | P>H | No |
ClinGen gnomAD |
|
|
rs1270665635 CA352884200 |
178 | P>L | No |
ClinGen gnomAD |
|
|
CA352884206 rs1225577715 |
179 | T>A | No |
ClinGen gnomAD |
|
| TCGA novel | 179 | T>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs761147362 CA352884224 |
180 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2411810 rs761147362 |
180 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1348165663 CA352884242 |
181 | P>Q | No |
ClinGen gnomAD |
|
|
CA2411811 rs764661400 |
182 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA352884255 rs1278416489 |
182 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1278416489 CA352884257 |
182 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA352884284 rs754197451 |
183 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74589372 rs970362206 |
184 | D>N | No |
ClinGen TOPMed |
|
|
rs144445925 CA2411834 |
186 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2411835 rs141707114 |
188 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 190 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751638590 CA2411837 |
191 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs569472089 CA2411838 |
192 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2411840 rs767383718 |
193 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2411839 rs767383718 |
193 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2411841 rs539562353 |
194 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
COSM3775182 CA2411843 rs749081279 |
195 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1357614135 CA352885414 |
195 | E>V | No |
ClinGen gnomAD |
|
|
rs756946367 CA2411844 |
196 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA352885433 rs1265278284 |
197 | G>R | No |
ClinGen gnomAD |
|
|
rs1183152476 CA352885501 |
201 | C>Y | No |
ClinGen gnomAD |
|
|
CA2411846 rs745394145 |
202 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA2411849 rs748608861 |
204 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA74589432 rs973574831 |
208 | D>A | No |
ClinGen TOPMed |
|
|
rs369786647 CA74589427 |
208 | D>N | No |
ClinGen Ensembl |
|
|
CA352885667 rs1559730986 |
209 | T>I | No |
ClinGen Ensembl |
|
|
CA74589434 rs1027063451 |
210 | A>T | No |
ClinGen TOPMed |
|
|
rs770418587 CA2411850 |
211 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1004179006 CA74589435 |
212 | A>T | No |
ClinGen TOPMed |
|
|
CA352885699 rs1430060898 |
212 | A>V | No |
ClinGen gnomAD |
|
|
rs374695737 CA2411853 |
215 | N>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2411872 rs771257970 |
217 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1434767927 CA352887166 |
218 | L>V | No |
ClinGen TOPMed |
|
|
CA2411873 rs367780828 |
222 | V>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs772183288 CA2411875 |
225 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs777449225 CA74592120 |
229 | T>A | No |
ClinGen Ensembl |
|
|
CA2411877 rs537327064 |
229 | T>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs753735514 CA2411879 |
235 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA74592124 rs1007217371 |
235 | R>H | No |
ClinGen TOPMed |
|
|
rs1205381710 CA352887412 |
237 | L>V | No |
ClinGen TOPMed |
|
|
rs1022203290 CA74592132 |
238 | G>R | No |
ClinGen TOPMed |
|
| TCGA novel | 238 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs750171769 CA2411882 |
241 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA352887484 rs1234792578 |
242 | A>V | No |
ClinGen TOPMed |
|
|
rs1363082346 CA352887500 |
243 | M>L | No |
ClinGen gnomAD |
|
|
CA2411884 rs779830920 |
243 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779830920 CA74592150 |
243 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1302556516 CA352887543 |
245 | T>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs149769565 CA74592159 |
248 | Y>F | No |
ClinGen ESP |
|
|
rs754496254 CA2411887 |
248 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352887631 rs1311785713 |
249 | N>S | No |
ClinGen gnomAD |
|
|
rs1311785713 CA352887628 |
249 | N>T | No |
ClinGen gnomAD |
|
|
CA74592165 rs968011290 |
250 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs371787785 CA2411889 |
251 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs371787785 CA2411888 |
251 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352887668 rs1465334003 |
251 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA352887705 rs1375075513 |
252 | W>C | No |
ClinGen TOPMed |
|
|
rs1311361934 CA352887722 |
253 | L>R | No |
ClinGen TOPMed |
|
|
rs1310058815 CA352888948 |
255 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2411914 rs776838630 |
257 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs564359081 CA2411915 |
259 | I>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs769790519 CA2411916 |
260 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA352889167 rs1465805143 |
262 | E>V | No |
ClinGen gnomAD |
|
|
rs148950155 CA74592450 |
267 | S>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs148950155 CA2411917 |
267 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762810649 CA2411918 |
268 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA352889377 rs1274948262 |
268 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1357581121 CA352889434 |
270 | R>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs759325844 CA2411921 COSM315066 |
270 | R>H | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs767245346 CA2411922 |
271 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA352889500 rs1226511513 |
272 | D>N | No |
ClinGen TOPMed |
|
|
rs141067151 CA74592483 |
280 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141067151 CA2411923 |
280 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs755533288 CA2411924 |
280 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750832268 CA2411926 |
282 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765807897 CA2411925 |
282 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2411928 rs780454531 |
283 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2411930 rs755234194 |
284 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352889882 rs1305765370 |
286 | A>T | No |
ClinGen TOPMed |
|
|
CA352889893 rs1229981160 |
286 | A>V | No |
ClinGen gnomAD |
|
|
rs748290614 CA2411932 |
287 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352889934 rs1172493610 |
288 | Q>* | No |
ClinGen TOPMed |
|
|
rs776547060 CA2411934 |
290 | P>HMFSL* | No |
ClinGen ExAC |
|
|
CA2411938 rs546353560 |
291 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs147698274 CA2411936 |
291 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA2411937 rs546353560 |
291 | A>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs767302908 CA2411940 |
293 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA2411942 rs565856671 |
294 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352890043 rs565856671 |
294 | A>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2411943 rs565856671 |
294 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1217375994 CA352890062 |
295 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
CA2411944 rs753375214 |
295 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs944522148 CA74592578 |
296 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1484165168 CA352890076 |
296 | I>V | No |
ClinGen TOPMed |
|
|
CA352890086 rs1427470735 |
297 | G>R | No |
ClinGen gnomAD |
|
|
CA352890096 rs1414857141 |
298 | R>C | No |
ClinGen gnomAD |
|
| rs776160589 | 302 | N>= | Variant assessed as Somatic; 4.624e-05 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1265939085 CA352890351 |
303 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA352890513 rs1452475804 |
311 | V>F | No |
ClinGen gnomAD |
|
|
CA352890516 rs1452475804 |
311 | V>I | No |
ClinGen gnomAD |
|
|
rs766901674 CA2411965 |
312 | N>H | No |
ClinGen ExAC gnomAD |
|
|
CA2411966 CA352890562 rs751995189 |
312 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352890556 rs1266570912 |
312 | N>S | No |
ClinGen gnomAD |
|
| TCGA novel | 314 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs753097043 CA2411969 |
320 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA2411970 COSM1692792 rs756328900 |
320 | A>V | skin [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA352890751 rs1300931462 |
321 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs370355902 CA74592764 |
321 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753997259 CA2411972 |
322 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1165247 CA2411974 rs569937416 |
323 | V>I | large_intestine [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA74592790 rs569937416 |
323 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs745746158 CA2411975 |
327 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs746790207 CA2411978 |
329 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2411980 rs776224826 |
333 | E>A | No |
ClinGen ExAC gnomAD |
|
|
CA352891109 rs1181456864 |
335 | H>Y | No |
ClinGen TOPMed |
|
|
rs1471946094 CA352891214 |
338 | E>A | No |
ClinGen TOPMed |
|
|
rs1205621326 CA352891227 |
339 | L>F | No |
ClinGen gnomAD |
|
|
rs1205621326 CA352891222 |
339 | L>I | No |
ClinGen gnomAD |
|
|
rs1239224234 CA352891248 |
340 | Q>* | No |
ClinGen TOPMed |
|
|
rs764499450 CA2412005 |
342 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs571093852 CA2412003 |
342 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2412004 rs571093852 |
342 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352891548 rs1298067343 |
347 | T>I | No |
ClinGen gnomAD |
|
|
rs762192570 CA2412007 |
349 | D>N | No |
ClinGen ExAC TOPMed |
|
|
rs371518982 CA2412009 |
350 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766229353 CA2412011 |
354 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs751455492 CA2412012 |
357 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1201654175 CA352891753 |
358 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA352891755 rs1201654175 |
358 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA2412013 rs754857378 |
360 | T>A | No |
ClinGen ExAC |
|
|
rs781032644 CA2412014 |
361 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs748556012 CA2412041 |
365 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1046421 CA352892034 rs1455414579 |
367 | R>Q | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA352892077 rs1413966228 |
370 | A>S | No |
ClinGen TOPMed |
|
|
CA2412043 rs773435179 COSM267399 |
370 | A>V | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA352892101 rs771028336 |
371 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2412045 rs771028336 |
371 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 377 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352892287 rs1254413108 |
380 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs759559991 COSM1046423 CA2412047 |
380 | R>H | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA352892312 rs1488588804 |
381 | M>I | No |
ClinGen gnomAD |
|
|
rs1483331634 CA352892297 |
381 | M>L | No |
ClinGen TOPMed |
|
|
CA352892382 rs767470094 |
384 | N>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA74593234 rs1017902176 |
385 | G>R | No |
ClinGen TOPMed |
|
|
CA352892563 rs1365201389 |
393 | P>S | No |
ClinGen gnomAD |
|
|
rs764010560 CA2412051 CA2412052 |
394 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA352892589 rs1195031315 |
394 | N>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA74593258 rs866358074 |
396 | Q>H | No |
ClinGen Ensembl |
|
|
rs1309689130 CA352892633 |
396 | Q>R | No |
ClinGen gnomAD |
|
|
rs1370901746 CA352892708 |
399 | P>A | No |
ClinGen gnomAD |
|
|
CA352892710 rs1370901746 |
399 | P>S | No |
ClinGen gnomAD |
|
|
CA352892771 rs1296417677 |
402 | G>R | No |
ClinGen gnomAD |
|
|
rs778408005 CA2412054 |
404 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA352892897 rs749976415 |
408 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs137935899 CA74593266 |
408 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP NCI-TCGA |
|
CA2412055 rs749976415 |
408 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA2412059 rs200890253 |
411 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs771846651 CA74595332 |
412 | C>G | No |
ClinGen Ensembl |
|
|
rs1458361886 CA352894438 |
418 | T>M | No |
ClinGen gnomAD |
|
|
rs778088955 CA2412079 |
419 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs926121508 CA74595345 |
421 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA352894536 rs1370149155 |
424 | T>A | No |
ClinGen gnomAD |
|
|
rs1263070101 CA352894592 |
426 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs9858355 CA74595349 |
428 | P>H | No |
ClinGen Ensembl |
|
|
rs1446679221 CA352894944 |
436 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs779118686 CA2412082 |
437 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA352895042 rs1386923944 |
439 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 442 | Y>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352895209 rs1289036034 |
444 | A>T | No |
ClinGen TOPMed |
|
|
rs1480659538 CA352895239 |
445 | V>L | No |
ClinGen gnomAD |
|
|
CA352895232 COSM359800 rs1480659538 |
445 | V>M | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA352895296 rs1198334944 |
447 | P>S | No |
ClinGen gnomAD |
|
|
CA2412084 rs772280883 |
450 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1427129629 CA352895424 |
450 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
rs145958913 CA2412086 |
451 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs546599637 CA2412085 |
451 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1575408268 CA352895482 |
453 | L>P | No |
ClinGen Ensembl |
|
|
rs146135698 CA2412089 |
456 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1424116 rs148796473 CA74595408 |
456 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD |
|
rs148796473 CA352895552 |
456 | R>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA74595410 rs965058464 |
459 | A>V | No |
ClinGen Ensembl |
|
|
CA352895643 rs1559738204 |
460 | P>S | No |
ClinGen Ensembl |
|
|
rs1488285898 CA352895676 |
461 | Y>C | No |
ClinGen TOPMed |
|
|
rs201165303 CA2412092 |
462 | R>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201165303 CA2412091 |
462 | R>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs766106283 CA2412093 |
462 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751136059 CA2412094 |
463 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1203426372 CA352895774 |
464 | T>I | No |
ClinGen gnomAD |
|
|
CA352895782 rs1224808712 |
465 | T>A | No |
ClinGen TOPMed |
|
| TCGA novel | 465 | T>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 466 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs754401762 CA2412095 |
466 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352895836 rs1273793158 |
467 | A>D | No |
ClinGen TOPMed |
|
|
CA2412098 rs763873712 |
468 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2412097 rs754239925 |
468 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046955 VAR_011820 CA74595425 |
474 | A>G | No |
ClinGen UniProt Ensembl dbSNP |
|
|
CA352896080 rs1363106217 |
476 | G>R | No |
ClinGen gnomAD |
|
|
COSM1225140 CA352896092 rs1468181934 |
477 | R>C | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs759861492 CA74595434 |
477 | R>H | No |
ClinGen TOPMed |
|
|
CA2412102 COSM1309295 rs780205478 |
479 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs747148318 CA2412103 |
484 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs755217152 CA2412122 |
487 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2412124 rs147680835 |
487 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs755217152 CA2412123 |
487 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749098669 CA2412127 |
488 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA2412128 rs770790599 |
489 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2412130 rs759180773 |
494 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA352896789 rs1460961300 |
494 | I>V | No |
ClinGen gnomAD |
|
|
CA352896841 rs1559738926 |
495 | V>A | No |
ClinGen Ensembl |
|
|
rs1407423442 CA352896834 |
495 | V>L | No |
ClinGen gnomAD |
|
|
CA2412131 rs771726075 |
497 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA74595719 rs201124553 |
498 | K>R | No |
ClinGen Ensembl |
|
|
rs760183999 CA2412133 |
499 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA74595745 rs868394331 |
500 | D>E | No |
ClinGen Ensembl |
|
|
VAR_008855 rs1046956 CA2412134 |
503 | L>M | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA352897129 rs1446368389 |
503 | L>S | No |
ClinGen gnomAD |
|
|
rs1046956 CA352897123 |
503 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs369678199 CA2412135 |
504 | E>K | No |
ClinGen ESP ExAC gnomAD |
|
|
CA352897194 rs1379281866 |
505 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs889480105 CA74595746 |
507 | M>T | No |
ClinGen Ensembl |
|
|
rs1225076836 CA352897300 |
508 | L>M | No |
ClinGen gnomAD |
|
| TCGA novel | 510 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352897498 rs1575409350 |
511 | V>G | No |
ClinGen Ensembl |
|
|
CA352897576 rs1575409360 |
513 | V>G | No |
ClinGen Ensembl |
|
|
rs1224775111 CA352897895 |
516 | D>E | No |
ClinGen Ensembl |
|
|
rs1243130029 CA352897958 |
518 | A>G | No |
ClinGen TOPMed |
|
|
rs1225256924 CA352897970 |
519 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA352897961 rs1225256924 |
519 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1490344216 CA352897997 |
520 | V>I | No |
ClinGen gnomAD |
|
|
rs756391322 CA2412159 |
523 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA2412158 rs540657417 |
523 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA2412160 rs764335741 |
525 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA2412161 rs753936938 |
529 | R>K | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 533 | Y>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352898711 rs1465284362 |
534 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs533578727 CA2412183 |
534 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352898742 rs1294595386 |
535 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA2412185 rs376640044 |
538 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1380053648 CA352898827 |
540 | V>I | No |
ClinGen gnomAD |
|
|
rs1575409913 CA352898888 |
542 | H>P | No |
ClinGen Ensembl |
|
|
CA352898893 rs1298473696 |
542 | H>Q | No |
ClinGen TOPMed |
|
|
CA352898909 rs1227024867 |
543 | L>P | No |
ClinGen gnomAD |
|
|
rs780779649 CA2412186 |
544 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA74596021 rs747657646 |
544 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1256660804 CA352898978 |
546 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs941036489 CA74596034 |
547 | R>C | No |
ClinGen gnomAD |
|
|
rs1398917752 CA352899007 |
547 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 547 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2412189 rs777134071 |
549 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA74596037 rs370816630 |
550 | A>S | No |
ClinGen ESP TOPMed |
|
|
rs746453207 COSM1265171 CA2412190 |
550 | A>V | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA352899128 rs1409106610 |
553 | A>V | No |
ClinGen gnomAD |
|
|
CA352899162 rs1168276927 |
555 | C>W | No |
ClinGen gnomAD |
|
| TCGA novel | 564 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2412194 rs769031941 |
564 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA352899512 rs1575410046 |
569 | D>N | No |
ClinGen Ensembl |
|
|
CA2412195 rs776928052 |
571 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352899559 rs1432424075 |
571 | Q>R | No |
ClinGen gnomAD |
|
|
rs1272337119 CA352899569 |
572 | A>P | No |
ClinGen gnomAD |
|
|
rs900398994 CA74596045 |
574 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs761815872 CA2412196 |
575 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA2412197 rs367805068 |
575 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1326203582 CA352899656 |
576 | Y>C | No |
ClinGen gnomAD |
|
|
CA352899681 rs1204451577 |
577 | T>I | No |
ClinGen gnomAD |
|
|
CA2412198 rs750467441 |
578 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs866965620 CA74596062 |
579 | S>F | No |
ClinGen Ensembl |
|
|
CA74596228 rs1038030098 |
583 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs773393032 CA2412217 |
583 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1266101141 CA352899880 |
584 | S>N | No |
ClinGen gnomAD |
|
|
CA2412219 rs766306228 |
585 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2412220 rs201250937 |
585 | R>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs759452037 CA2412221 |
586 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs752403483 CA2412223 |
589 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA74596262 rs1045993195 |
590 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1452684171 CA352900014 |
591 | H>L | No |
ClinGen gnomAD |
|
|
rs755837175 CA2412224 |
591 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352900032 rs1261668510 |
592 | G>R | No |
ClinGen gnomAD |
|
|
rs753421778 CA2412226 |
595 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs753421778 CA352900093 |
595 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA352900117 rs756763223 |
596 | R>S | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 598 | C>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1294166107 CA352900159 |
599 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA2412228 rs754854474 |
599 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 601 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352900206 rs1221372137 |
602 | N>T | No |
ClinGen gnomAD |
|
|
CA2412229 rs747580790 |
604 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747580790 CA74596282 |
604 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| rs781505281 | 605 | A>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2412247 rs749927083 |
605 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA2412248 rs749927083 |
605 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1338762288 CA352900321 |
606 | N>D | No |
ClinGen gnomAD |
|
|
rs748548002 CA2412250 |
606 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs369296269 CA2412251 |
608 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1227808150 CA352900354 |
609 | A>T | No |
ClinGen gnomAD |
|
|
CA2412253 rs560306002 CA352900360 |
610 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs560306002 CA2412254 |
610 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs745897906 CA2412256 COSM1692794 |
611 | E>K | skin [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA74596430 rs1011642100 |
612 | S>F | No |
ClinGen Ensembl |
|
|
CA2412257 rs772027459 |
613 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA352901007 rs1198396142 |
616 | G>V | No |
ClinGen gnomAD |
|
|
rs1399111219 CA352901009 |
617 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA352901050 rs1477123633 |
619 | G>D | No |
ClinGen gnomAD |
|
|
CA352901039 rs1423612417 |
619 | G>S | No |
ClinGen gnomAD |
|
| TCGA novel | 620 | S>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA352901074 rs760533853 |
620 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2412260 rs763853986 |
621 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763853986 CA352901079 |
621 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352901089 rs1194731992 |
621 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs1387343252 CA352901105 |
622 | A>G | No |
ClinGen gnomAD |
|
|
rs776485274 CA2412261 |
622 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs1575411109 CA352901169 |
626 | C>G | No |
ClinGen Ensembl |
|
|
CA74596456 rs757110934 |
628 | P>A | No |
ClinGen Ensembl |
|
|
rs761601708 CA2412262 COSM3781837 |
629 | R>H | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA2412263 rs761601708 |
629 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2412264 rs200910175 |
630 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1262134345 CA352901313 |
632 | Q>H | No |
ClinGen gnomAD |
|
|
rs756635384 CA2412268 |
632 | Q>K | No |
ClinGen ExAC gnomAD |
|
|
CA352901309 rs1575411168 |
632 | Q>P | No |
ClinGen Ensembl |
|
|
rs1242239993 CA352901353 |
634 | T>A | No |
ClinGen gnomAD |
|
|
rs1485982045 CA352901373 |
635 | V>L | No |
ClinGen gnomAD |
|
|
rs778038011 CA2412269 |
637 | W>L | No |
ClinGen ExAC gnomAD |
|
|
CA2412271 rs78468558 |
639 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74596470 rs78468558 |
639 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2412272 rs779065641 |
640 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1217522684 CA352901507 |
641 | R>G | No |
ClinGen TOPMed |
|
|
rs375597719 CA2412273 |
641 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1275330943 CA352901539 |
642 | D>V | No |
ClinGen TOPMed |
|
|
CA352901648 rs1207329702 |
645 | D>Y | No |
ClinGen Ensembl |
|
|
CA352901669 COSM731217 rs1174026804 |
646 | R>Q | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs771989354 CA2412274 |
646 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA352901693 rs1575411276 |
647 | R>C | No |
ClinGen Ensembl |
|
|
rs1365835897 CA352901694 |
647 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
rs780169693 CA2412275 |
648 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA2412299 rs747967019 |
650 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs1384528892 CA352902076 |
650 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
CA2412300 rs769765430 |
651 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs769765430 CA74596848 |
651 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773134056 CA2412301 |
651 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773134056 CA2412302 |
651 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770593817 CA2412303 |
654 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352902134 rs1358520845 |
654 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA352902195 rs143620746 |
655 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA2412305 rs759045780 |
655 | R>H | No |
ClinGen ExAC gnomAD |
|
|
rs759045780 CA352902222 |
655 | R>L | No |
ClinGen ExAC gnomAD |
|
|
CA2412304 rs143620746 |
655 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA2412306 rs764512744 |
656 | F>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2412307 rs777065974 |
658 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762295414 COSM252804 CA2412308 |
658 | R>H | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs762295414 CA352902360 |
658 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2412309 rs765659353 |
659 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA352902507 rs1182271404 |
662 | G>D | No |
ClinGen gnomAD |
|
|
rs1041233805 CA74596867 |
662 | G>S | No |
ClinGen TOPMed |
|
|
CA2412311 rs369846946 |
665 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs766577529 CA2412312 |
666 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352902673 rs766577529 |
666 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1189009669 CA352902688 |
667 | A>T | No |
ClinGen TOPMed |
|
|
rs78974255 CA74596880 |
671 | S>I | No |
ClinGen Ensembl |
|
|
CA2412317 rs756084868 |
672 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1249011069 CA352902926 |
673 | R>G | No |
ClinGen TOPMed |
|
|
COSM1424117 rs377363752 CA2412318 |
673 | R>H | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA gnomAD |
| TCGA novel | 673 | R>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1249011069 CA352902925 |
673 | R>S | No |
ClinGen TOPMed |
|
|
CA352902997 rs1575412407 |
676 | Y>S | No |
ClinGen Ensembl |
|
|
CA352903043 rs1226899345 |
677 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA352903030 rs1226899345 |
677 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA352903072 rs1198160331 |
679 | T>I | No |
ClinGen gnomAD |
|
|
rs372872279 CA2412319 |
679 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA352903089 rs1462860652 |
680 | A>G | No |
ClinGen gnomAD |
|
|
CA352903221 rs1256355810 |
683 | N>K | No |
ClinGen TOPMed |
|
|
rs886910844 CA74596903 |
684 | N>S | No |
ClinGen gnomAD |
|
|
CA352903396 rs1311481995 |
687 | H>L | No |
ClinGen gnomAD |
|
|
CA2412323 rs771629001 |
688 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1482155093 CA352903400 |
688 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs773591831 CA2412327 |
689 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141689328 CA352903463 |
689 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141689328 CA2412325 |
689 | V>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs141689328 CA2412326 |
689 | V>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1469832895 CA352903518 |
690 | T>I | No |
ClinGen gnomAD |
|
|
rs766517998 COSM446744 CA2412329 |
691 | R>* | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1357018293 CA352903530 |
691 | R>Q | No |
ClinGen gnomAD |
|
|
rs755146688 CA2412331 |
692 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1218536514 CA352903736 |
695 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA74596923 rs1056877162 |
696 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs756141927 CA2412334 |
698 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA352903821 rs756141927 |
698 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA352903841 rs1310651698 |
699 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA2412338 rs757018373 |
701 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2412337 rs757018373 |
701 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs775031605 CA2412341 |
702 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1270879493 CA352903940 |
703 | H>R | No |
ClinGen gnomAD |
|
|
rs770318868 CA74596959 |
704 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2412343 rs770318868 |
704 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352903980 rs1236750428 |
705 | A>P | No |
ClinGen TOPMed |
|
|
rs1559741622 CA352903992 |
705 | A>V | No |
ClinGen Ensembl |
|
|
CA2412344 rs773705858 |
706 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1361594340 CA352904110 |
708 | P>L | No |
ClinGen gnomAD |
|
|
rs1274331737 CA352904229 |
712 | M>I | No |
ClinGen gnomAD |
|
|
CA2412349 rs767795681 |
712 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs759884213 CA2412348 |
712 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760769051 CA352904254 |
714 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760769051 CA2412351 |
714 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1286964132 CA352904260 |
714 | A>V | No |
ClinGen gnomAD |
|
|
CA352904291 rs1352726311 |
715 | P>A | No |
ClinGen gnomAD |
|
|
rs149408865 CA2412352 COSM1424119 |
715 | P>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
rs1559741709 CA352904352 |
717 | P>L | No |
ClinGen Ensembl |
|
|
rs959911082 CA74596980 |
717 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA352904402 rs1244449329 |
718 | P>L | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 718 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA2412356 rs538607746 |
719 | G>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA2412355 rs538607746 |
719 | G>D | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs779644860 CA2412358 |
720 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM584103 rs779644860 CA2412359 |
720 | A>T | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs182139438 CA2412360 |
720 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA352904436 rs1224167239 |
721 | G>D | No |
ClinGen TOPMed |
|
|
CA2412362 rs749838132 |
722 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 723 | P>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1406438073 CA352904477 |
723 | P>T | No |
ClinGen gnomAD |
|
|
rs774797321 CA2412364 |
724 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74597011 rs143791871 |
726 | P>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA352904647 rs1310283080 |
727 | Y>F | No |
ClinGen gnomAD |
|
|
CA2412366 rs772426432 |
729 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs375649354 CA2412367 |
731 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA2412368 rs760965334 |
731 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA352904872 rs1575412863 |
734 | L>R | No |
ClinGen Ensembl |
|
|
CA352904902 rs753830480 |
735 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA2412370 rs753830480 |
735 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA352905075 rs1373187218 |
739 | V>G | No |
ClinGen Ensembl |
|
|
CA352905100 rs1287590086 |
740 | G>D | No |
ClinGen gnomAD |
|
|
CA352905155 rs1160796152 |
741 | L>F | No |
ClinGen TOPMed |
|
|
rs929314822 CA74597024 |
743 | H>Q | No |
ClinGen Ensembl |
|
|
CA352905209 rs1439044066 |
744 | Q>* | No |
ClinGen gnomAD |
|
|
CA352905205 rs1439044066 |
744 | Q>K | No |
ClinGen gnomAD |
|
|
rs369738398 CA2412371 |
745 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA352905267 rs1413284152 |
746 | C>R | No |
ClinGen TOPMed |
|
|
rs1180370179 CA352905313 |
747 | Q>H | No |
ClinGen TOPMed |
|
|
CA2412372 rs765037874 |
747 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1484238888 CA352905334 |
748 | G>V | No |
ClinGen TOPMed |
|
|
rs1437427943 CA352905403 |
750 | W>* | No |
ClinGen gnomAD |
|
|
CA352905416 rs1575412926 |
750 | W>* | No |
ClinGen Ensembl |
|
|
CA352905429 rs1177203082 |
751 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA352905426 rs1177203082 |
751 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
rs750266971 CA2412373 |
751 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352905438 rs750266971 |
751 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1487249573 CA352905454 |
752 | H>L | No |
ClinGen TOPMed |
|
|
rs1473308073 CA352905470 |
753 | V>M | No |
ClinGen gnomAD |
|
|
CA352905527 rs1288135363 |
754 | P>L | No |
ClinGen TOPMed |
|
|
rs938516953 CA74597037 |
754 | P>S | No |
ClinGen Ensembl |
|
|
CA2412375 rs779699515 |
755 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA352905565 rs1332125274 |
756 | S>I | No |
ClinGen gnomAD |
|
|
CA352905679 rs1315043804 |
759 | E>G | No |
ClinGen gnomAD |
|
|
CA2412377 rs754591015 |
759 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2412378 rs372964942 |
761 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA74597055 rs372964942 |
761 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1454287536 CA352905731 |
761 | P>S | No |
ClinGen gnomAD |
|
|
CA352905753 rs1282366377 |
762 | G>R | No |
ClinGen gnomAD |
|
|
rs1218781030 CA352905786 |
763 | A>V | No |
ClinGen gnomAD |
|
|
CA2412381 rs779219725 |
764 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA2412382 rs779219725 |
764 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775992407 CA2412385 |
765 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775992407 CA2412384 |
765 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772622323 CA2412383 |
765 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA352905817 rs1575413087 |
766 | S>A | No |
ClinGen Ensembl |
|
|
rs1187269950 CA352905828 |
767 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA74597062 rs1050002754 |
768 | E>Q | No |
ClinGen TOPMed |
|
|
CA352905874 rs1162874142 |
769 | P>T | No |
ClinGen TOPMed |
|
|
rs1367306903 CA352905978 |
771 | D>G | No |
ClinGen gnomAD |
|
|
CA352905994 rs1479073339 |
772 | Q>K | No |
ClinGen gnomAD |
|
|
rs542839951 CA2412386 |
772 | Q>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA352906207 rs1464090758 |
776 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA352906179 rs1423032225 |
776 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA2412387 rs776795355 |
778 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs761760550 CA2412388 |
778 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs776795355 CA352906269 |
778 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA2412391 rs762867485 |
779 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773078256 CA2412390 COSM3427717 |
779 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs949029732 CA74597069 |
781 | H>P | No |
ClinGen Ensembl |
|
|
rs1277440787 CA352906397 |
781 | H>Y | No |
ClinGen gnomAD |
|
|
rs754678639 CA2412394 |
783 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA74597083 rs752254860 |
784 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA74597086 rs904151002 |
785 | T>R | No |
ClinGen Ensembl |
No associated diseases with Q13275
5 regional properties for Q13275
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| extracellular space | That part of a multicellular organism outside the cells proper, usually taken to be outside the plasma membranes, and occupied by fluid. |
| glutamatergic synapse | A synapse that uses glutamate as a neurotransmitter. |
| 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. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| chemorepellent activity | Providing the environmental signal that initiates the directed movement of a motile cell or organism towards a lower concentration of that signal. |
| semaphorin receptor binding | Binding to a semaphorin receptor. |
19 GO annotations of biological process
| Name | Definition |
|---|---|
| axon extension involved in axon guidance | The long distance growth of a single cell process, that is involved in the migration of an axon growth cone, where the migration is directed to a specific target site by a combination of attractive and repulsive cues. |
| axon guidance | The chemotaxis process that directs the migration of an axon growth cone to a specific target site in response to a combination of attractive and repulsive cues. |
| branchiomotor neuron axon guidance | The process in which a branchiomotor neuron growth cone is directed to a specific target site. Branchiomotor neurons are located in the hindbrain and innervate branchial arch-derived muscles that control jaw movements, facial expression, the larynx, and the pharynx. |
| facial nerve structural organization | The process that contributes to the act of creating the structural organization of the facial nerve. This process pertains to the physical shaping of a rudimentary structure. This sensory and motor nerve supplies the muscles of facial expression and the expression and taste at the anterior two-thirds of the tongue. The principal branches are the superficial opthalmic, buccal, palatine and hyomandibular. The main trunk synapses within pterygopalatine ganglion in the parotid gland and this ganglion then gives of nerve branches which supply the lacrimal gland and the mucous secreting glands of the nasal and oral cavities. |
| negative chemotaxis | The directed movement of a motile cell or organism towards a lower concentration of a chemical. |
| negative regulation of axon extension involved in axon guidance | Any process that stops, prevents, or reduces the frequency, rate or extent of axon extension involved in axon guidance. |
| nerve development | The process whose specific outcome is the progression of a nerve over time, from its formation to the mature structure. |
| neural crest cell migration | The characteristic movement of cells from the dorsal ridge of the neural tube to a variety of locations in a vertebrate embryo. |
| neural crest cell migration involved in autonomic nervous system development | Any neural crest cell migration that is involved in autonomic nervous system development. |
| positive regulation of cell migration | Any process that activates or increases the frequency, rate or extent of cell migration. |
| regulation of postsynapse organization | Any process that modulates the physical form of a postsynapse. |
| semaphorin-plexin signaling pathway | The series of molecular signals generated as a consequence of a semaphorin receptor (composed of a plexin and a neurophilin) binding to a semaphorin ligand. |
| semaphorin-plexin signaling pathway involved in axon guidance | Any semaphorin-plexin signaling pathway that is involved in axon guidance. |
| semaphorin-plexin signaling pathway involved in neuron projection guidance | Any semaphorin-plexin signaling pathway that is involved in neuron projection guidance. |
| sympathetic ganglion development | The process whose specific outcome is the progression of a sympathetic ganglion over time, from its formation to the mature structure. |
| sympathetic neuron projection extension | Long distance growth of a single sympathetic neuron projection involved in cellular development. A neuron projection is a prolongation or process extending from a nerve cell, e.g. an axon or dendrite. |
| sympathetic neuron projection guidance | The process in which the migration of a sympathetic neuron projection is directed to a specific target site in response to a combination of attractive and repulsive cues. |
| trigeminal nerve structural organization | The process that contributes to the act of creating the structural organization of the oculomotor nerve. This process pertains to the physical shaping of a rudimentary structure. The trigeminal nerve is composed of three large branches. They are the ophthalmic (V1, sensory), maxillary (V2, sensory) and mandibular (V3, motor and sensory) branches. The sensory ophthalmic branch travels through the superior orbital fissure and passes through the orbit to reach the skin of the forehead and top of the head. The maxillary nerve contains sensory branches that reach the pterygopalatine fossa via the inferior orbital fissure (face, cheek and upper teeth) and pterygopalatine canal (soft and hard palate, nasal cavity and pharynx). The motor part of the mandibular branch is distributed to the muscles of mastication, the mylohyoid muscle and the anterior belly of the digastric. The mandibular nerve also innervates the tensor veli palatini and tensor tympani muscles. The sensory part of the mandibular nerve is composed of branches that carry general sensory information from the mucous membranes of the mouth and cheek, anterior two-thirds of the tongue, lower teeth, skin of the lower jaw, side of the head and scalp and meninges of the anterior and middle cranial fossae. |
| ventral trunk neural crest cell migration | The movement of trunk neural crest cells from the neural tube, travelling ventrally through the anterior half of each sclerotome. Trunk neural crest cells that remain in the sclerotome form the dorsal root ganglia containing the sensory neurons. Trunk neural crest cells that continue more ventrally form the sympathetic ganglia, the adrenal medulla, and the nerve clusters surrounding the aorta. |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MLVAGLLLWA | SLLTGAWPSF | PTQDHLPATP | RVRLSFKELK | ATGTAHFFNF | LLNTTDYRIL |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LKDEDHDRMY | VGSKDYVLSL | DLHDINREPL | IIHWAASPQR | IEECVLSGKD | VNGECGNFVR |
| 130 | 140 | 150 | 160 | 170 | 180 |
| LIQPWNRTHL | YVCGTGAYNP | MCTYVNRGRR | AQATPWTQTQ | AVRGRGSRAT | DGALRPMPTA |
| 190 | 200 | 210 | 220 | 230 | 240 |
| PRQDYIFYLE | PERLESGKGK | CPYDPKLDTA | SALINEELYA | GVYIDFMGTD | AAIFRTLGKQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TAMRTDQYNS | RWLNDPSFIH | AELIPDSAER | NDDKLYFFFR | ERSAEAPQSP | AVYARIGRIC |
| 310 | 320 | 330 | 340 | 350 | 360 |
| LNDDGGHCCL | VNKWSTFLKA | RLVCSVPGED | GIETHFDELQ | DVFVQQTQDV | RNPVIYAVFT |
| 370 | 380 | 390 | 400 | 410 | 420 |
| SSGSVFRGSA | VCVYSMADIR | MVFNGPFAHK | EGPNYQWMPF | SGKMPYPRPG | TCPGGTFTPS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MKSTKDYPDE | VINFMRSHPL | MYQAVYPLQR | RPLVVRTGAP | YRLTTIAVDQ | VDAADGRYEV |
| 490 | 500 | 510 | 520 | 530 | 540 |
| LFLGTDRGTV | QKVIVLPKDD | QELEELMLEE | VEVFKDPAPV | KTMTISSKRQ | QLYVASAVGV |
| 550 | 560 | 570 | 580 | 590 | 600 |
| THLSLHRCQA | YGAACADCCL | ARDPYCAWDG | QACSRYTASS | KRRSRRQDVR | HGNPIRQCRG |
| 610 | 620 | 630 | 640 | 650 | 660 |
| FNSNANKNAV | ESVQYGVAGS | AAFLECQPRS | PQATVKWLFQ | RDPGDRRREI | RAEDRFLRTE |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QGLLLRALQL | SDRGLYSCTA | TENNFKHVVT | RVQLHVLGRD | AVHAALFPPL | SMSAPPPPGA |
| 730 | 740 | 750 | 760 | 770 | 780 |
| GPPTPPYQEL | AQLLAQPEVG | LIHQYCQGYW | RHVPPSPREA | PGAPRSPEPQ | DQKKPRNRRH |
| HPPDT |