Q6YHU6
Gene name |
THADA (GITA, KIAA1767) |
Protein name |
Thyroid adenoma-associated protein |
Names |
150 kDa TGF-beta-1-binding protein, C3 and PZP-like alpha-2-macroglobulin domain-containing protein 7, Platelet-specific Gov antigen, p180, r150, Gene inducing thyroid adenomas protein |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:63892 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q6YHU6
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 5T6Y | X-ray | 176 A | C | 796-807 | PDB |
| AF-Q6YHU6-F1 | Predicted | AlphaFoldDB |
2021 variants for Q6YHU6
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1482073094 CA346639017 |
2 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA1633783 rs762085952 |
3 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA346638995 rs1204944026 |
4 | K>R | No |
ClinGen TOPMed |
|
|
rs1343630079 CA346638986 |
5 | K>E | No |
ClinGen gnomAD |
|
|
rs1227549670 CA346638944 |
8 | E>Q | No |
ClinGen gnomAD |
|
|
rs759927171 CA46398879 |
9 | M>I | No |
ClinGen Ensembl |
|
|
CA346638929 rs1359966318 |
9 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1633779 rs768716443 |
10 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1468373498 CA346638890 |
12 | A>G | No |
ClinGen TOPMed |
|
|
rs774830793 CA46398864 |
12 | A>S | No |
ClinGen Ensembl |
|
|
CA346638887 rs1468373498 |
12 | A>V | No |
ClinGen TOPMed |
|
|
rs771603812 CA1633778 COSM1021017 |
13 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA1633777 rs370411818 |
15 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1168574412 CA346638842 |
16 | I>T | No |
ClinGen gnomAD |
|
|
rs780928464 CA1633774 |
16 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1403967737 CA346638830 |
17 | C>F | No |
ClinGen TOPMed |
|
|
CA46398846 rs1044274044 |
18 | H>R | No |
ClinGen gnomAD |
|
|
CA1633773 rs770596548 |
19 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs777150338 CA1633771 |
20 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1180750653 CA346638791 |
20 | D>G | No |
ClinGen gnomAD |
|
|
CA1633772 rs746612310 |
20 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346638774 rs1356512522 |
21 | L>P | No |
ClinGen TOPMed |
|
|
CA1633769 rs200695759 |
22 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 22 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1633770 rs757916965 |
22 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346638756 rs1483779663 |
23 | T>A | No |
ClinGen gnomAD |
|
|
rs780683695 CA1633768 |
25 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs780683695 CA346638730 |
25 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA346638657 rs1456191401 |
26 | S>F | No |
ClinGen TOPMed |
|
|
CA1633752 rs771529524 |
29 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1336820498 CA346638629 COSM3839560 |
29 | D>N | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs747661099 CA1633751 |
30 | V>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346638574 rs1268521066 |
33 | K>E | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 33 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1329769752 CA346638555 |
34 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1633750 rs190097300 |
34 | N>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA346638544 rs1327359321 |
35 | L>I | No |
ClinGen gnomAD |
|
|
CA346638542 rs1327359321 |
35 | L>V | No |
ClinGen gnomAD |
|
|
COSM575298 CA346638534 rs1287909838 |
36 | A>S | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1234095242 CA346638523 |
36 | A>V | No |
ClinGen gnomAD |
|
|
CA1633749 rs756710267 |
37 | S>A | No |
ClinGen ExAC gnomAD |
|
|
CA346638512 rs1299881624 |
37 | S>C | No |
ClinGen gnomAD |
|
|
rs867304321 CA46398587 |
38 | L>F | No |
ClinGen Ensembl |
|
|
CA346638491 rs746311398 |
39 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633748 rs746311398 |
39 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1322977584 CA346638477 |
40 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA46398571 rs939793088 |
40 | L>S | No |
ClinGen Ensembl |
|
|
rs1462761453 CA346638473 |
41 | H>N | No |
ClinGen TOPMed |
|
|
rs17031095 CA1633746 |
41 | H>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs781732522 CA1633747 |
41 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1462761453 CA346638468 |
41 | H>Y | No |
ClinGen TOPMed |
|
|
rs1478095865 CA346638448 |
42 | C>F | No |
ClinGen gnomAD |
|
|
CA346638455 rs1157911914 |
42 | C>R | No |
ClinGen gnomAD |
|
|
rs1048113778 CA46398561 |
44 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs948577418 CA46398555 |
46 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs752800943 CA1633742 |
47 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1190298391 CA346638389 |
47 | D>N | No |
ClinGen gnomAD |
|
|
CA1633741 rs765246231 |
48 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA46398520 rs966261634 |
48 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs759470335 CA1633740 |
52 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346638299 rs1366580296 |
53 | H>P | No |
ClinGen gnomAD |
|
|
CA346638291 rs1300388675 |
53 | H>Q | No |
ClinGen gnomAD |
|
|
CA346638297 rs1366580296 |
53 | H>R | No |
ClinGen gnomAD |
|
|
rs1232542477 CA346638301 |
53 | H>Y | No |
ClinGen gnomAD |
|
|
rs1301856743 CA346638284 |
54 | Y>H | No |
ClinGen TOPMed |
|
|
CA346638267 rs1396794348 |
55 | I>M | No |
ClinGen TOPMed |
|
|
rs1364888601 CA346638241 |
57 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs796722393 CA46398510 |
57 | Q>R | No |
ClinGen Ensembl |
|
|
rs1559037948 CA346638205 |
58 | I>V | No |
ClinGen Ensembl |
|
|
rs1559037933 CA346638198 |
59 | V>M | No |
ClinGen Ensembl |
|
|
rs374109478 CA1633726 |
60 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1633724 rs201920573 |
62 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1633725 rs777955569 |
62 | L>V | No |
ClinGen ExAC |
|
|
rs10210191 CA346638176 |
63 | E>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs753819135 COSM264023 CA1633720 |
63 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1633721 rs10210191 VAR_054070 |
63 | E>G | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs779026905 CA1633722 |
63 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA346638159 rs1348058200 |
66 | D>H | No |
ClinGen TOPMed |
|
|
rs760487579 CA1633718 |
68 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346638134 rs1290743677 |
69 | G>D | No |
ClinGen gnomAD |
|
|
rs992126127 CA46397809 |
70 | M>L | No |
ClinGen Ensembl |
|
|
CA346638111 rs1230210630 |
72 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 72 | D>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376725588 CA1633715 |
73 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1633716 rs376725588 |
73 | P>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1350960977 CA346638096 |
75 | I>V | No |
ClinGen gnomAD |
|
|
CA346638064 rs1559037735 |
79 | L>* | No |
ClinGen Ensembl |
|
|
rs1309767985 CA346638055 |
80 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs768333408 CA1633713 |
81 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633712 rs762523260 |
81 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 81 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346638043 rs1229281733 |
82 | L>S | No |
ClinGen TOPMed |
|
|
CA1633711 rs774826158 |
83 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs747420918 CA1633709 |
84 | G>C | No |
ClinGen ExAC |
|
|
CA1633708 rs778208081 |
84 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs563532541 CA1633707 |
85 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1473122618 CA346638029 |
85 | I>V | No |
ClinGen gnomAD |
|
|
CA1633706 rs748423736 |
86 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA46397748 rs543742869 |
86 | Y>H | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1472575065 CA346638018 |
87 | L>F | No |
ClinGen gnomAD |
|
|
CA346638007 rs1247325644 |
88 | S>F | No |
ClinGen gnomAD |
|
|
CA346638003 rs1223894871 |
89 | L>* | No |
ClinGen gnomAD |
|
|
rs779082057 CA1633705 |
90 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779082057 CA346637996 |
90 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346637991 rs1247069193 |
91 | L>V | No |
ClinGen TOPMed |
|
|
CA346637968 rs755086995 |
94 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633704 rs755086995 |
94 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1011417293 CA46397706 |
96 | K>R | No |
ClinGen TOPMed |
|
|
CA46397702 rs999453451 |
97 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA346637929 rs753948512 |
100 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs753948512 CA1633702 |
100 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1437997483 CA346637924 |
101 | S>N | No |
ClinGen gnomAD |
|
|
rs1294938477 CA346637452 |
101 | S>R | No |
ClinGen gnomAD |
|
|
rs1362564904 CA346637447 |
102 | S>* | No |
ClinGen TOPMed |
|
|
CA46394910 rs1045137088 |
104 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1633678 rs187052351 |
105 | S>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1317914716 CA346637401 |
106 | L>R | No |
ClinGen TOPMed |
|
|
CA346637409 rs1574385075 |
106 | L>V | No |
ClinGen Ensembl |
|
|
rs1449185117 CA346637390 |
107 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs751425959 CA1633677 |
108 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs763927007 CA1633676 |
109 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA46394898 rs985298678 |
109 | F>V | No |
ClinGen Ensembl |
|
|
rs758132464 CA1633675 |
110 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs1313425386 CA346637347 |
110 | F>V | No |
ClinGen TOPMed |
|
| rs1382663762 | 111 | L>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346637318 rs1431704911 |
112 | P>H | No |
ClinGen gnomAD |
|
|
CA346637314 rs1431704911 |
112 | P>L | No |
ClinGen gnomAD |
|
|
rs752291254 CA1633674 |
112 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs554376052 CA346637297 |
113 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346637288 rs1222122921 |
114 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs768040706 CA1633670 |
115 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773805885 CA1633671 |
115 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs371688194 CA46394860 |
116 | H>Y | No |
ClinGen ESP TOPMed |
|
|
rs61756227 CA1633668 |
117 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs61756227 CA346637248 |
117 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1633667 rs200662249 |
117 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs61756227 CA1633669 |
117 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1633666 rs749590222 |
118 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs1483742220 CA346637002 |
121 | R>C | No |
ClinGen TOPMed gnomAD |
|
|
RCV000201356 CA210161 rs769958179 |
121 | R>H | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA46394829 rs371880874 |
122 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1633663 rs371880874 |
122 | L>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1432997766 CA346636983 |
123 | Q>* | No |
ClinGen gnomAD |
|
|
CA346636980 rs1158134615 |
123 | Q>R | No |
ClinGen TOPMed |
|
|
rs1559030616 CA346636965 |
124 | E>G | No |
ClinGen Ensembl |
|
|
rs781374845 CA1633662 |
124 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs757277865 CA1633661 |
127 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346636920 rs1416427071 |
128 | T>A | No |
ClinGen TOPMed |
|
|
CA1633660 rs746879882 |
129 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs777782318 CA1633659 |
129 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs777782318 CA346636907 |
129 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1368756265 CA346636868 |
132 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA1633657 rs375237551 |
132 | Y>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346636854 rs1458561964 |
134 | Y>H | No |
ClinGen gnomAD |
|
|
rs752439110 CA1633655 |
135 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs754617107 CA1633653 |
136 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753309055 CA346636811 |
137 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753309055 CA1633652 |
137 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1416968309 CA346636802 |
138 | T>N | No |
ClinGen gnomAD |
|
|
CA1633650 rs185258611 |
140 | N>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765816694 CA1633651 |
140 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346636786 rs1182782833 |
140 | N>Y | No |
ClinGen gnomAD |
|
|
CA346636776 rs199590427 |
141 | I>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1633649 rs199590427 |
141 | I>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346636761 rs764492617 |
142 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs764492617 CA346636760 |
142 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA346636765 rs1221330869 |
142 | S>T | No |
ClinGen TOPMed |
|
|
CA1633648 rs764492617 |
142 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1262235838 CA346636748 |
143 | S>F | No |
ClinGen TOPMed |
|
|
CA346636740 rs763197877 |
144 | C>S | No |
ClinGen ExAC gnomAD |
|
|
CA1633647 rs763197877 |
144 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1334591727 CA346636729 |
145 | M>T | No |
ClinGen gnomAD |
|
|
CA346636680 rs1559030297 |
149 | N>K | No |
ClinGen Ensembl |
|
|
CA346636673 rs1334534699 |
150 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1418373568 CA346636675 |
150 | L>W | No |
ClinGen gnomAD |
|
|
rs760802119 CA1633621 |
153 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA346636620 rs1378824414 |
157 | N>D | No |
ClinGen gnomAD |
|
|
rs1453363621 CA346636616 |
157 | N>K | No |
ClinGen gnomAD |
|
|
CA1633620 rs375247905 |
157 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1633619 rs375247905 |
157 | N>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346636602 rs1248267446 |
160 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1633618 rs748059357 |
160 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778575494 CA1633617 |
161 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA46394548 rs371217345 |
164 | H>R | No |
ClinGen ESP gnomAD |
|
|
rs1362826136 CA346636548 |
166 | L>R | No |
ClinGen TOPMed |
|
|
CA1633600 rs774331636 |
166 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs768385428 CA1633599 |
167 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1633597 rs775217705 |
167 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633598 rs771119860 |
167 | Q>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771119860 CA346636545 |
167 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633596 rs78981041 |
168 | K>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1330341746 CA346636533 |
169 | S>C | No |
ClinGen gnomAD |
|
|
rs1407807074 CA346636523 |
170 | L>* | No |
ClinGen gnomAD |
|
|
CA46394532 rs372211488 |
171 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1633595 rs745459510 |
172 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1633594 rs780637216 |
173 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA346636496 rs1416216352 |
175 | E>K | No |
ClinGen gnomAD |
|
|
CA46394523 rs373673928 |
177 | N>I | No |
ClinGen Ensembl |
|
|
CA346636471 rs1379099598 |
178 | R>T | No |
ClinGen TOPMed |
|
|
CA346636241 rs1329704162 |
179 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1329704162 CA346636242 |
179 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
rs368526940 CA346636230 |
180 | C>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs527902461 CA1633574 |
182 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs867681644 CA46392683 |
184 | H>Y | No |
ClinGen Ensembl |
|
|
rs1274964297 CA346636197 |
185 | I>M | No |
ClinGen gnomAD |
|
|
CA46392680 rs1026918286 |
186 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs573213556 CA46392676 |
187 | Q>* | No |
ClinGen Ensembl |
|
|
CA346636176 rs1442591633 |
189 | Q>E | No |
ClinGen gnomAD |
|
|
rs946649968 CA46392673 |
189 | Q>R | No |
ClinGen TOPMed |
|
|
CA346636156 rs1436273757 |
191 | M>I | No |
ClinGen gnomAD |
|
|
rs1325577276 CA346636159 |
191 | M>R | No |
ClinGen gnomAD |
|
|
rs770392688 CA1633573 |
191 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1633572 rs746557034 |
193 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1285125546 CA346636147 |
193 | D>N | No |
ClinGen gnomAD |
|
|
CA346636133 rs1387135388 |
195 | L>M | No |
ClinGen gnomAD |
|
|
rs1359083827 CA346636129 |
195 | L>P | No |
ClinGen TOPMed |
|
|
rs1157532204 CA346636125 |
196 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1157532204 CA346636124 |
196 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA46392658 rs192535319 |
196 | V>I | No |
ClinGen 1000Genomes TOPMed |
|
|
rs192535319 CA346636127 COSM323806 |
196 | V>L | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes TOPMed |
|
CA346636122 rs1372425372 |
197 | G>R | No |
ClinGen gnomAD |
|
|
rs1372425372 CA346636123 |
197 | G>S | No |
ClinGen gnomAD |
|
|
CA1633570 rs1425909809 |
198 | I>F | No |
ClinGen TOPMed gnomAD |
|
|
CA346636103 rs1175624595 |
200 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
CA46392641 rs985711679 |
202 | M>I | No |
ClinGen Ensembl |
|
|
CA1633567 rs749747632 |
202 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs562360663 CA1633566 |
203 | M>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346636080 rs1189523324 |
203 | M>T | No |
ClinGen gnomAD |
|
|
CA1633565 rs756534688 |
204 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1633562 rs757372040 |
205 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs781444863 CA1633563 |
205 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781444863 CA1633564 |
205 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751672696 CA1633561 |
206 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA346636064 rs1487861295 |
206 | Q>P | No |
ClinGen TOPMed |
|
|
CA346636046 rs1302222650 |
209 | Q>* | No |
ClinGen gnomAD |
|
|
rs1228748924 CA346636040 |
209 | Q>H | No |
ClinGen gnomAD |
|
|
CA46392621 rs997144677 |
210 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA346636021 rs1258248593 |
212 | Q>* | No |
ClinGen TOPMed |
|
|
rs548649234 CA1633558 |
212 | Q>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1633557 rs765062132 |
213 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs899848397 CA46392616 |
213 | G>R | No |
ClinGen TOPMed |
|
|
CA346636000 rs1360262469 |
215 | L>R | No |
ClinGen gnomAD |
|
|
CA1633556 rs759340475 |
216 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776254069 CA1633555 |
218 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1633551 rs771706208 |
220 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 220 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346635961 rs1421332309 |
221 | S>C | No |
ClinGen gnomAD |
|
|
CA1633549 rs780685814 |
222 | P>A | No |
ClinGen ExAC |
|
|
rs770322476 CA1633548 |
222 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1633550 rs780685814 |
222 | P>S | No |
ClinGen ExAC |
|
|
rs746266806 CA1633547 |
223 | I>M | No |
ClinGen ExAC gnomAD |
|
|
rs1258140359 CA346635934 |
224 | W>C | No |
ClinGen gnomAD |
|
|
CA346635914 rs1213012572 |
225 | Q>H | No |
ClinGen gnomAD |
|
|
rs781353623 CA46392585 |
226 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781353623 CA1633546 |
226 | N>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633543 CA46392574 rs777886527 |
227 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372882224 CA1633544 |
227 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1633545 rs757505254 |
227 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA346635882 rs1293806223 |
228 | C>S | No |
ClinGen TOPMed gnomAD |
|
|
rs752668175 CA1633541 |
232 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1633540 rs759347057 |
233 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs759347057 CA1633539 |
233 | I>V | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 234 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA46392552 rs368496560 |
235 | T>S | No |
ClinGen ESP TOPMed |
|
|
rs375004363 CA46392548 |
236 | K>E | No |
ClinGen ESP TOPMed |
|
|
CA46392544 rs868430723 |
236 | K>N | No |
ClinGen gnomAD |
|
|
rs753683747 CA1633538 |
236 | K>T | No |
ClinGen ExAC gnomAD |
|
|
CA346635708 rs1342822134 |
240 | D>G | No |
ClinGen TOPMed |
|
|
COSM3839558 CA346635716 rs1257621847 |
240 | D>N | Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs962010398 CA46392540 |
241 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA46391014 rs542350440 |
242 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs542350440 CA346635131 |
242 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs750141761 CA1633519 |
243 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA346635094 rs1366391218 |
245 | Q>K | No |
ClinGen TOPMed |
|
|
CA346635069 rs1437817376 |
246 | T>S | No |
ClinGen TOPMed |
|
|
CA1633516 rs761499306 |
248 | Q>* | No |
ClinGen ExAC |
|
|
rs774002336 CA1633515 |
248 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1304548798 CA346635035 |
249 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1633514 rs763506875 |
250 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633512 rs776978690 |
251 | S>P | No |
ClinGen ExAC TOPMed |
|
|
CA1633511 rs373077677 |
251 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1633508 rs183134956 |
255 | I>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs987323546 CA46390978 |
256 | I>F | No |
ClinGen Ensembl |
|
|
rs1361514196 CA346634943 |
256 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs748307255 CA346634931 |
257 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1633507 rs748307255 |
257 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs779034878 CA1633506 |
259 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749298853 CA1633504 |
260 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633505 rs755001688 |
260 | K>T | No |
ClinGen ExAC gnomAD |
|
|
rs371326573 CA46390952 |
261 | T>I | No |
ClinGen TOPMed |
|
|
CA46390957 rs371326573 |
261 | T>S | No |
ClinGen TOPMed |
|
|
rs376415620 CA346634883 |
262 | M>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376415620 CA1633503 |
262 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs756039806 CA1633502 |
263 | F>L | No |
ClinGen ExAC |
|
|
rs750266449 CA1633501 |
264 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs563970271 CA1633499 |
265 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1633500 rs372665084 |
265 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1235117763 CA346634856 |
266 | S>P | No |
ClinGen gnomAD |
|
|
rs763707006 CA1633497 |
269 | I>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633495 rs775022070 |
270 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA346634825 rs1330263180 |
270 | P>L | No |
ClinGen gnomAD |
|
|
rs766813273 CA1633494 |
271 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA346634820 rs1383797947 |
271 | H>R | No |
ClinGen gnomAD |
|
|
CA1633473 rs762135972 |
273 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs953638717 CA46390174 |
273 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA346634790 rs1334640193 |
274 | S>N | No |
ClinGen TOPMed |
|
|
CA346634782 rs1030459797 |
275 | S>N | No |
ClinGen gnomAD |
|
|
CA46390169 rs1030459797 |
275 | S>T | No |
ClinGen gnomAD |
|
|
rs774739883 CA1633472 |
276 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA46390164 rs561564298 |
277 | L>R | No |
ClinGen 1000Genomes gnomAD |
|
|
COSM116120 rs1257223390 CA346634761 |
279 | R>C | ovary Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
COSM3426466 CA46390142 rs369231765 |
279 | R>H | large_intestine Variant assessed as Somatic; 0.000101 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ESP NCI-TCGA gnomAD |
|
rs768783970 CA1633471 |
280 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs775499084 CA1633469 |
281 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs775499084 CA346634753 COSM264022 |
281 | V>M | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs538530020 CA1633467 |
282 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs538530020 CA46390099 |
282 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA346634737 rs1286920044 |
283 | C>F | No |
ClinGen TOPMed |
|
|
CA346634739 rs1286920044 |
283 | C>Y | No |
ClinGen TOPMed |
|
|
CA46390083 rs371970621 |
284 | T>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1633466 rs371970621 |
284 | T>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346634734 rs1574337915 |
284 | T>P | No |
ClinGen Ensembl |
|
|
rs770948035 CA1633465 |
285 | S>N | No |
ClinGen ExAC |
|
|
rs746799499 CA346634725 |
285 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770948035 CA346634727 |
285 | S>T | No |
ClinGen ExAC |
|
|
CA1633461 rs752394069 |
288 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1234716275 CA346634682 |
291 | M>I | No |
ClinGen gnomAD |
|
|
CA1633459 rs372607575 |
291 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1179874234 CA346634640 |
294 | C>F | No |
ClinGen gnomAD |
|
|
rs1574337673 CA346634630 |
295 | R>G | No |
ClinGen Ensembl |
|
|
CA346634605 rs1237283868 |
296 | S>N | No |
ClinGen gnomAD |
|
|
CA1633456 rs762258981 |
296 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1044763854 CA46390052 |
297 | L>V | No |
ClinGen Ensembl |
|
|
rs764514355 CA1633454 |
299 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA346634557 rs1227718499 |
300 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1227718499 CA346634555 |
300 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346634553 rs1350721648 |
300 | G>V | No |
ClinGen gnomAD |
|
|
CA346634525 rs1416806982 |
302 | I>T | No |
ClinGen TOPMed |
|
|
rs1375710201 CA346634506 |
303 | S>F | No |
ClinGen gnomAD |
|
|
rs896404841 CA46390035 |
304 | Q>* | No |
ClinGen Ensembl |
|
|
rs1443358478 CA346634481 |
305 | S>L | No |
ClinGen TOPMed |
|
|
CA1633452 rs763142807 |
305 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633451 rs775758130 |
306 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA346634468 rs1323443986 |
307 | V>I | No |
ClinGen gnomAD |
|
|
rs759717863 CA1633449 |
308 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs776800885 CA1633448 |
309 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746894384 CA1633447 |
311 | C>F | No |
ClinGen ExAC gnomAD |
|
|
CA1633446 rs746894384 |
311 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1633443 rs771891596 |
315 | L>I | No |
ClinGen ExAC gnomAD |
|
|
CA46389955 rs902372621 |
315 | L>P | No |
ClinGen Ensembl |
|
|
rs188056909 CA346634332 |
316 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs188056909 CA1633442 |
316 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1285676347 CA346634329 |
317 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 318 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1202859720 CA346634253 |
321 | Q>H | No |
ClinGen gnomAD |
|
|
rs1303670219 CA346634231 |
323 | G>R | No |
ClinGen gnomAD |
|
|
COSM258178 CA1633439 rs748820550 |
324 | S>N | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs757709873 CA1633437 |
325 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1347472487 CA346634178 |
326 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1347472487 CA346634174 |
326 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs376879544 CA1633435 |
327 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1633436 rs572379924 |
327 | R>W | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1633433 rs201664851 |
328 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM721828 CA346634141 rs1395728271 |
329 | G>V | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs765575282 CA46389886 |
330 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633431 rs759772148 |
331 | A>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 333 | L>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1633429 rs766559656 |
335 | D>G | No |
ClinGen ExAC TOPMed |
|
|
CA346634056 rs1243770388 |
336 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1214431942 CA346634052 |
336 | T>I | No |
ClinGen gnomAD |
|
|
rs1487659092 CA346634046 |
337 | A>V | No |
ClinGen gnomAD |
|
|
CA1633428 rs760591847 |
338 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1345311648 CA346634035 |
339 | V>A | No |
ClinGen gnomAD |
|
|
rs773181831 CA1633427 |
342 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs771805446 CA1633426 |
343 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1356123112 CA346634003 |
344 | S>N | No |
ClinGen gnomAD |
|
|
CA346633993 rs1433027429 |
345 | S>L | No |
ClinGen gnomAD |
|
|
rs372846729 CA46389872 |
346 | Q>R | No |
ClinGen Ensembl |
|
| TCGA novel | 349 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1633407 rs374567530 |
349 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs111983293 CA1633406 |
351 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1633405 rs138256193 COSM1021012 |
351 | T>M | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA346633612 rs1243311242 |
353 | E>D | No |
ClinGen gnomAD |
|
|
rs958290138 CA46388640 |
354 | M>I | No |
ClinGen TOPMed |
|
|
rs1384016339 CA346633591 |
355 | F>C | No |
ClinGen TOPMed |
|
|
CA346633570 rs1307825787 |
357 | S>P | No |
ClinGen gnomAD |
|
|
rs1331011406 CA346633534 |
359 | I>M | No |
ClinGen gnomAD |
|
|
rs769289194 CA1633402 |
359 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346633527 rs1445762223 |
360 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 361 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1395013983 CA346633497 |
362 | S>F | No |
ClinGen gnomAD |
|
|
rs1327806763 CA346633471 |
364 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs780508349 CA1633400 |
367 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772635151 CA1633399 |
368 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1032432772 CA46388620 |
369 | Q>E | No |
ClinGen Ensembl |
|
|
CA1633397 rs779474834 |
369 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs748656149 CA1633398 |
369 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1284268876 CA346633348 |
372 | E>G | No |
ClinGen TOPMed |
|
|
rs201237775 CA1633395 |
372 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1633393 rs756243212 |
374 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs959545488 CA46388613 |
375 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs959545488 CA346633298 |
375 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA1633392 rs750531653 |
376 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346633291 rs750531653 COSM1288449 |
376 | P>Q | autonomic_ganglia [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1633390 rs566504845 |
379 | T>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346633177 rs1305382606 |
382 | L>P | No |
ClinGen gnomAD |
|
|
CA1633387 rs200284081 |
383 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1389924294 CA346633142 |
384 | G>R | No |
ClinGen gnomAD |
|
|
CA1633386 rs546364711 |
385 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1633383 rs776269375 |
388 | I>M | No |
ClinGen ExAC gnomAD |
|
|
CA1633381 rs748717251 |
389 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633382 rs563721551 |
389 | V>I | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1633380 rs550760548 |
390 | G>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs200288894 CA1633378 |
391 | R>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346633001 rs1188855259 |
392 | L>V | No |
ClinGen gnomAD |
|
|
rs1055756807 CA46388575 |
393 | L>S | No |
ClinGen TOPMed |
|
|
rs756363512 CA346632976 |
394 | E>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633376 rs756363512 |
394 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633374 rs781391774 |
395 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1633375 rs750608341 |
395 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs757294125 CA1633373 |
396 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1633372 rs369822260 |
397 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1633370 rs762817926 |
399 | H>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 399 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1401808689 CA346632895 |
399 | H>Y | No |
ClinGen gnomAD |
|
|
CA1633368 rs764933076 |
400 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA46388509 rs764933076 |
400 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs865883026 CA46388492 |
401 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA1633367 rs759289122 |
402 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1465839619 CA346632811 |
403 | P>T | No |
ClinGen gnomAD |
|
|
rs772804097 CA1633363 |
405 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1391638377 CA346632781 |
405 | D>H | No |
ClinGen gnomAD |
|
|
CA1633364 rs772804097 |
405 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633362 COSM4133845 rs113096905 |
406 | A>T | thyroid [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA346632758 rs1188749010 |
406 | A>V | No |
ClinGen gnomAD |
|
|
rs936713955 CA46388454 |
407 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
rs749745614 CA346632751 |
407 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA346632717 TCGA novel rs1343991670 |
409 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen TOPMed gnomAD NCI-TCGA |
|
rs775991524 CA1633360 |
409 | H>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 413 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346632658 rs1433412990 |
413 | I>M | No |
ClinGen TOPMed |
|
|
rs770042940 CA1633359 |
413 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1559003611 CA346632666 |
413 | I>V | No |
ClinGen Ensembl |
|
|
rs1375740542 CA346632628 |
414 | M>T | No |
ClinGen TOPMed |
|
|
CA346632652 rs1177892619 |
414 | M>V | No |
ClinGen TOPMed |
|
|
rs977865363 CA46388450 |
415 | F>S | No |
ClinGen TOPMed |
|
|
CA346632571 rs1315997335 |
416 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
CA346632572 rs1315997335 |
416 | K>T | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 418 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781298683 CA1633357 |
418 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1574327276 CA346632475 |
421 | M>I | No |
ClinGen Ensembl |
|
|
CA1633355 rs747104937 |
422 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346632470 rs747104937 |
422 | H>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633354 rs777760369 COSM477418 |
422 | H>Q | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1372802416 CA346632465 |
422 | H>R | No |
ClinGen TOPMed |
|
|
rs752561176 CA1633352 |
423 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633353 rs758393859 |
423 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765126430 CA1633351 |
424 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346632397 rs1559003395 |
427 | E>G | No |
ClinGen Ensembl |
|
|
rs986923172 CA46388430 |
429 | A>T | No |
ClinGen Ensembl |
|
|
CA46388423 rs951115589 |
429 | A>V | No |
ClinGen gnomAD |
|
|
CA1633348 rs766156996 |
430 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA346632363 rs1476213323 |
430 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1187055969 CA346632346 |
431 | F>I | No |
ClinGen gnomAD |
|
|
rs17031074 CA1633347 |
431 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1633344 rs763574266 |
432 | V>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767131147 CA1633345 |
432 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1257322269 CA346632310 |
433 | P>L | No |
ClinGen gnomAD |
|
|
rs1257322269 CA346632311 |
433 | P>R | No |
ClinGen gnomAD |
|
|
CA1633343 rs775840394 |
433 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs770293416 CA1633342 |
434 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
CA1633341 rs746239295 |
435 | P>A | No |
ClinGen ExAC |
|
|
CA1633339 rs771146349 |
435 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1633340 rs771146349 |
435 | P>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 438 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs959197845 CA46388397 |
440 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs182434450 COSM1267743 CA1633338 CA346632142 |
442 | E>D | oesophagus [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
| TCGA novel | 443 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346632115 rs777885047 |
444 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633337 rs777885047 |
444 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633335 rs758447438 |
446 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs748153743 CA346632073 |
446 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633334 rs748153743 |
446 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633332 rs536278126 |
451 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 453 | G>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1034660406 CA346631894 |
455 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs753593586 CA1633331 |
455 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA1633330 COSM575300 rs574838357 |
456 | T>M | lung kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA1633329 rs755897760 |
457 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs200743409 CA346631834 |
459 | G>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs374224899 CA1633327 |
459 | G>D | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200743409 CA1633328 |
459 | G>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs544356267 CA1633326 |
460 | C>G | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs879006430 CA46388349 |
463 | E>Q | No |
ClinGen Ensembl |
|
|
CA1633324 rs765675388 |
464 | C>G | No |
ClinGen ExAC gnomAD |
|
|
rs1342866583 CA346631680 |
465 | I>L | No |
ClinGen TOPMed |
|
|
rs892547556 CA46388337 |
465 | I>T | No |
ClinGen Ensembl |
|
|
rs1559002678 CA346631669 |
466 | G>E | No |
ClinGen Ensembl |
|
|
rs760020600 CA1633323 |
466 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs575482607 CA1633322 |
468 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346631648 rs1213345074 |
468 | E>K | No |
ClinGen TOPMed |
|
|
CA1633321 rs376940925 |
469 | H>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1633320 rs760933752 |
470 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1633319 rs773389210 |
472 | A>G | No |
ClinGen ExAC TOPMed |
|
|
CA46432263 rs993583336 |
472 | A>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1559002553 CA346657909 |
473 | I>M | No |
ClinGen Ensembl |
|
|
rs1559002562 CA346657917 |
473 | I>V | No |
ClinGen Ensembl |
|
|
CA1633317 rs748201612 |
474 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633318 rs374531354 |
474 | D>H | No |
ClinGen ESP ExAC gnomAD |
|
|
rs778997097 CA1633316 |
475 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs925305767 CA46432243 |
475 | K>R | No |
ClinGen TOPMed |
|
|
rs1574326192 CA346657879 |
476 | T>A | No |
ClinGen Ensembl |
|
|
CA1633315 rs768485836 |
476 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA1633313 rs780053672 |
477 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA1633314 rs558816839 |
477 | I>V | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs183744600 CA1633312 |
478 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346657809 rs1379397615 |
480 | Q>* | No |
ClinGen gnomAD |
|
|
CA346657812 rs1379397615 |
480 | Q>E | No |
ClinGen gnomAD |
|
|
CA346657723 rs1191566196 |
485 | M>L | No |
ClinGen gnomAD |
|
|
rs1478923285 CA346657696 |
486 | G>A | No |
ClinGen gnomAD |
|
|
CA1633308 rs751035278 |
487 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1633309 rs756875117 |
487 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346657689 rs756875117 |
487 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633307 rs763655641 |
488 | Q>P | No |
ClinGen ExAC gnomAD |
|
|
CA1633305 rs754316919 |
490 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1221283743 CA346657607 |
491 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1221283743 CA346657599 |
491 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1365991732 CA346657584 |
492 | P>A | No |
ClinGen gnomAD |
|
|
rs370221808 CA46432197 |
492 | P>R | No |
ClinGen ESP |
|
|
CA1633302 rs376887948 |
493 | Y>* | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1633304 rs761056362 |
493 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633303 rs761056362 |
493 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633300 rs762033664 |
494 | A>E | No |
ClinGen ExAC gnomAD |
|
|
rs1332087317 CA346657543 |
494 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs774365340 CA1633299 |
495 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA346657529 rs774365340 |
495 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA46432170 rs986987195 |
496 | D>N | No |
ClinGen Ensembl |
|
|
rs768767513 CA46432169 |
497 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633298 rs768767513 |
497 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780109636 CA46432140 |
500 | T>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780109636 CA1633296 |
500 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA46432132 rs973839785 |
501 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1478119181 CA346657415 |
501 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs769804145 CA1633295 |
501 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs745668829 CA1633294 |
503 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA1633293 rs370538247 |
504 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377667791 CA1633291 |
505 | H>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs377667791 CA1633292 |
505 | H>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346657368 rs1257753794 |
505 | H>Y | No |
ClinGen gnomAD |
|
|
rs1358224775 CA346657355 |
506 | K>E | No |
ClinGen TOPMed |
|
|
CA46432122 rs1034030690 |
506 | K>T | No |
ClinGen Ensembl |
|
|
rs1559001962 CA346657336 |
507 | S>T | No |
ClinGen Ensembl |
|
|
rs757891998 CA1633289 |
508 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA46432095 rs1001822921 |
509 | L>F | No |
ClinGen Ensembl |
|
|
CA346657271 rs1214876011 |
512 | Q>H | No |
ClinGen TOPMed |
|
|
rs766897390 CA1633287 |
514 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633285 rs374097298 |
516 | S>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1633284 rs767923431 |
517 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs767923431 CA346657211 |
517 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA346657213 rs767923431 |
517 | S>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1333276578 CA346657198 |
518 | W>* | No |
ClinGen gnomAD |
|
|
rs1357163270 CA346657206 |
518 | W>R | No |
ClinGen gnomAD |
|
|
CA46432066 rs1010017656 |
519 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs370201492 CA1633282 |
521 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346657147 rs764120566 |
522 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA1633281 rs764120566 |
522 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA346657137 rs1477192377 |
523 | H>R | No |
ClinGen gnomAD |
|
|
rs1469355524 CA346657118 COSM285691 |
524 | E>D | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs1413929856 CA346657114 |
525 | T>P | No |
ClinGen gnomAD |
|
|
rs775651138 CA1633279 |
526 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA346657060 rs1360185311 |
529 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1459419520 CA346657047 |
530 | L>P | No |
ClinGen gnomAD |
|
|
CA46432012 rs201592210 |
531 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs776347080 CA1633275 |
531 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346657039 rs776347080 |
531 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201592210 CA1633276 |
531 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1633274 rs770732836 |
533 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1633272 rs777509903 |
535 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 539 | L>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757994832 CA1633271 |
540 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA46431975 rs903828807 |
542 | K>N | No |
ClinGen Ensembl |
|
|
rs778331517 CA1633269 |
545 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373776485 CA1633268 |
546 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1166301918 CA346656898 |
547 | D>G | No |
ClinGen gnomAD |
|
|
rs1178915152 CA346656879 CA346656880 |
549 | Y>* | No |
ClinGen gnomAD |
|
|
rs1412609772 CA346656882 |
549 | Y>C | No |
ClinGen gnomAD |
|
|
rs1201731424 CA346656868 |
551 | P>Q | No |
ClinGen TOPMed |
|
|
rs1559001413 CA346656869 |
551 | P>S | No |
ClinGen Ensembl |
|
|
rs547589215 CA46431949 |
552 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA346656844 rs757612165 |
555 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs757612165 CA1633264 |
555 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA1633263 rs751832787 |
555 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1180865189 CA346656838 |
556 | Y>N | No |
ClinGen TOPMed gnomAD |
|
|
CA1633262 rs764389372 |
557 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1242627579 CA346656822 |
558 | P>A | No |
ClinGen gnomAD |
|
|
rs763199618 CA1633261 |
558 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1242627579 CA346656821 |
558 | P>S | No |
ClinGen gnomAD |
|
|
CA346656817 rs1306827318 |
559 | E>Q | No |
ClinGen gnomAD |
|
|
rs1445874827 CA346656785 |
562 | Q>H | No |
ClinGen gnomAD |
|
|
rs1468802163 CA346656779 |
563 | Y>D | No |
ClinGen TOPMed |
|
|
rs926466082 CA46431869 |
564 | M>I | No |
ClinGen TOPMed |
|
|
rs1295284613 CA346656753 |
564 | M>T | No |
ClinGen gnomAD |
|
|
CA346656758 rs1368214180 |
564 | M>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1633260 rs369020610 |
565 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA46431857 rs773638203 |
566 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA1633259 rs765394668 |
569 | Q>R | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 570 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs759591433 CA1633258 |
570 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs1378788540 CA346656659 |
570 | T>P | No |
ClinGen TOPMed gnomAD |
|
|
CA346656646 rs1332794911 |
571 | S>T | No |
ClinGen TOPMed |
|
|
CA1633257 rs776596485 |
571 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs199908402 CA1633255 |
572 | I>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374684384 CA1633256 |
572 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA46431836 rs918778618 |
573 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA46431830 rs918778618 |
573 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1633254 rs190809237 |
574 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190809237 CA46431821 |
574 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771720735 CA1633253 |
575 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA346656565 rs1559000963 |
576 | T>A | No |
ClinGen Ensembl |
|
|
CA346656554 rs1221470750 |
576 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1574324013 CA346656550 |
577 | G>R | No |
ClinGen Ensembl |
|
|
rs1423041979 CA346656430 |
581 | S>C | No |
ClinGen gnomAD |
|
|
rs758800386 CA1633227 |
586 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758800386 CA46430794 |
586 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1029241929 CA46430784 |
587 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA46430779 rs776702694 |
588 | C>Y | No |
ClinGen Ensembl |
|
|
CA46430774 rs1007626152 |
589 | N>Y | No |
ClinGen Ensembl |
|
|
rs1258607495 CA346656377 |
590 | S>G | No |
ClinGen gnomAD |
|
|
COSM477416 CA346656366 rs1200495102 |
591 | R>M | kidney Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs753067460 CA1633226 |
591 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 592 | G>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 593 | A>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| rs1397565574 | 593 | A>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA46430721 rs1052092517 |
595 | G>A | No |
ClinGen gnomAD |
|
|
rs1306579286 CA346656338 |
596 | A>G | No |
ClinGen TOPMed |
|
|
CA346656342 rs1341887132 |
596 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1633224 rs755095463 |
597 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs564201264 CA1633223 |
598 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346656319 rs897621872 |
599 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
rs897621872 CA46430698 |
599 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
CA46430689 rs897621872 |
599 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA46430683 rs374757824 |
600 | C>Y | No |
ClinGen ESP |
|
|
rs766368134 CA1633222 |
602 | R>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA346656303 rs1464543802 |
602 | R>Q | No |
ClinGen gnomAD |
|
|
CA1633221 rs760726810 |
603 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA346656295 rs750310364 |
604 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750310364 CA1633220 |
604 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA46430671 rs774014733 |
605 | R>G | No |
ClinGen Ensembl |
|
|
CA346656283 rs1231976867 |
606 | A>G | No |
ClinGen TOPMed |
|
|
CA1633219 rs767341032 |
606 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA346656271 rs761628561 |
607 | H>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
TCGA novel rs774085600 CA346656265 |
607 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
CA1633218 rs761628561 |
607 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs768312640 CA1633216 |
608 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA346656217 rs1180368689 |
610 | L>F | No |
ClinGen gnomAD |
|
|
rs1203746199 CA346656192 |
611 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1633214 rs775122260 |
614 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1272284995 CA346656150 |
614 | T>N | No |
ClinGen TOPMed gnomAD |
|
|
CA46430652 rs775122260 |
614 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747591503 CA1633212 |
616 | T>N | No |
ClinGen ExAC gnomAD |
|
|
rs377538801 CA346655983 |
621 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs377538801 CA1633209 |
621 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs374271718 CA1633208 |
622 | S>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1445130599 CA346655953 |
622 | S>F | No |
ClinGen gnomAD |
|
|
rs755296990 CA346655924 CA1633207 |
623 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1407134171 CA346655908 |
624 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs749461706 CA1633206 |
624 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs780233218 CA1633205 |
625 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs1163128938 CA346655874 |
626 | I>V | No |
ClinGen gnomAD |
|
|
rs756120732 CA1633204 |
627 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs540805240 CA1633203 |
631 | I>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1380898525 CA346655734 |
631 | I>V | No |
ClinGen gnomAD |
|
|
CA46430610 rs770796244 |
634 | H>P | No |
ClinGen Ensembl |
|
|
CA346655622 rs1437654206 |
636 | Q>E | No |
ClinGen gnomAD |
|
|
CA1633202 rs748989562 |
636 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA1633178 rs571141794 |
637 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346653866 CA1633177 rs571141794 |
637 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs932145709 CA46430004 |
638 | R>K | No |
ClinGen Ensembl |
|
|
CA1633176 rs189025105 |
638 | R>S | No |
ClinGen ExAC gnomAD |
|
|
CA346653826 rs1219301574 |
639 | I>M | No |
ClinGen gnomAD |
|
|
rs759196728 CA1633175 |
639 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA46430000 rs563216907 |
641 | T>I | No |
ClinGen Ensembl |
|
|
CA1633174 rs776345411 |
642 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs1342492199 CA346653785 |
642 | L>V | No |
ClinGen gnomAD |
|
|
CA346653760 rs1383014268 |
643 | G>V | No |
ClinGen gnomAD |
|
|
rs1344320065 CA346653749 |
644 | L>S | No |
ClinGen gnomAD |
|
|
CA1633171 rs774968041 |
646 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346653707 rs774968041 |
646 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633170 rs769166139 |
649 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs138949612 CA1633168 |
650 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA1633169 rs201567258 |
650 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1263675746 CA346653608 |
651 | S>C | No |
ClinGen TOPMed |
|
|
rs769915625 CA1633167 |
651 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs997539455 CA46429974 |
653 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 653 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1425191244 CA346653542 |
654 | I>M | No |
ClinGen gnomAD |
|
|
CA46429970 rs374808545 |
656 | S>A | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1633166 rs527284143 |
656 | S>C | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1633165 rs527284143 |
656 | S>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346653492 rs1186949148 |
657 | M>I | No |
ClinGen TOPMed |
|
|
CA346653507 CA346653512 rs3752354 |
657 | M>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC TOPMed gnomAD NCI-TCGA |
|
CA1633164 rs3752354 |
657 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346653478 rs1212668234 |
658 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1424814850 CA346653461 |
659 | E>Q | No |
ClinGen TOPMed |
|
|
rs747047689 CA1633163 |
660 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs777593477 CA1633162 |
661 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs758297048 CA1633161 |
662 | W>C | No |
ClinGen ExAC gnomAD |
|
|
rs752438267 CA346653356 CA1633160 |
664 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA1633159 rs372494428 COSM1229125 |
665 | F>L | large_intestine [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1633158 rs754737388 |
666 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs766028302 CA1633155 |
667 | I>N | No |
ClinGen ExAC gnomAD |
|
|
rs753520598 CA1633157 |
667 | I>V | No |
ClinGen ExAC |
|
|
CA346653276 rs1558995585 |
668 | T>I | No |
ClinGen Ensembl |
|
|
rs1335958091 CA346653251 |
669 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
CA346653266 rs764526891 |
669 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA1633151 rs764526891 |
669 | Y>N | No |
ClinGen ExAC gnomAD |
|
|
COSM1632012 CA1633150 rs369364138 |
670 | N>S | liver [Cosmic] | No |
ClinGen cosmic curated ESP ExAC TOPMed gnomAD |
|
CA1633148 rs548205845 |
671 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs190709877 CA346653227 |
671 | L>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1633149 rs190709877 |
671 | L>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1633147 rs188356382 |
672 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA346653147 rs1414039792 |
673 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs776865876 CA1633146 |
674 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1633145 rs541566460 |
674 | Q>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346653135 rs1287143437 |
674 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
CA346653134 rs1287143437 |
674 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA1633144 rs531379725 |
675 | S>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1321066204 CA346653101 |
676 | P>A | No |
ClinGen TOPMed |
|
|
rs777841362 CA1633143 |
677 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1633142 rs771968799 |
678 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs778624548 CA346653022 |
679 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778624548 COSM3939096 CA1633140 |
679 | R>Q | oesophagus [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs748102303 CA1633141 |
679 | R>W | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 681 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346652892 rs1380244876 |
683 | C>S | No |
ClinGen gnomAD |
|
|
rs1434270121 CA346652129 |
689 | L>F | No |
ClinGen gnomAD |
|
|
rs1427278517 CA346652127 |
690 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1427278517 CA346652126 |
690 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1490220948 CA346652114 |
691 | C>F | No |
ClinGen gnomAD |
|
|
CA346652116 rs1490220948 |
691 | C>Y | No |
ClinGen gnomAD |
|
|
rs1219108731 CA346652103 |
693 | I>V | No |
ClinGen gnomAD |
|
|
rs760945551 CA1633121 |
694 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs75542920 CA1633119 |
695 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs542005737 CA46428520 |
695 | E>K | No |
ClinGen Ensembl |
|
|
rs748077150 CA1633118 |
696 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA1633117 rs774462807 |
696 | S>N | No |
ClinGen ExAC gnomAD |
|
|
TCGA novel rs768666108 CA1633116 |
696 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs181621485 CA46428449 |
697 | S>C | No |
ClinGen 1000Genomes TOPMed |
|
|
CA346652051 rs181621485 |
697 | S>F | No |
ClinGen 1000Genomes TOPMed |
|
|
rs1221133740 CA346652042 |
698 | Q>* | No |
ClinGen gnomAD |
|
|
rs749112834 CA1633114 |
698 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
VAR_054071 CA1633113 rs17031056 |
699 | V>I | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA346651989 rs1383186438 |
701 | Y>C | No |
ClinGen gnomAD |
|
| TCGA novel | 702 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346651931 rs1288660629 |
704 | E>G | No |
ClinGen gnomAD |
|
|
rs554307239 CA1633110 CA346651907 |
705 | Q>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1633109 rs534132158 |
709 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765743165 CA1633107 |
710 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633106 rs755411685 |
710 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633108 rs765743165 |
710 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346651820 rs1479062620 |
711 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754267621 CA1633105 |
712 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633103 rs760854371 |
713 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1633104 rs766715625 |
713 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA46428378 rs867293035 |
714 | N>I | No |
ClinGen Ensembl |
|
|
CA346651782 rs1174701634 |
715 | E>Q | No |
ClinGen TOPMed |
|
|
rs370295558 CA1633101 |
717 | T>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761976499 CA1633100 |
717 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs929268534 CA46428348 |
718 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA346651670 rs1392692777 |
720 | H>R | No |
ClinGen TOPMed |
|
|
rs1558992353 CA346651623 |
722 | S>Y | No |
ClinGen Ensembl |
|
|
CA1633096 rs769611674 |
724 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1633095 rs769611674 |
724 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1396942461 CA346651545 |
726 | Q>* | No |
ClinGen gnomAD |
|
|
CA1633093 rs780917748 |
727 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs370630026 CA1633090 |
728 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1633091 rs746532780 |
728 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs1172900232 CA346651493 |
729 | K>E | No |
ClinGen gnomAD |
|
|
rs755535860 CA346651485 |
729 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA1633060 rs780635683 |
730 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346650908 rs780635683 |
730 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633061 rs780635683 |
730 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1249225620 CA346650891 |
732 | M>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1328621554 CA346650897 |
732 | M>L | No |
ClinGen gnomAD |
|
|
rs1209992923 CA346650887 |
733 | S>P | No |
ClinGen gnomAD |
|
|
rs756521093 CA1633058 |
734 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1042940516 CA46425090 |
737 | N>Y | No |
ClinGen TOPMed |
|
|
COSM442915 CA346650852 rs1574289523 |
738 | S>N | breast [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA346650840 rs1466738554 |
740 | F>L | No |
ClinGen gnomAD |
|
|
CA346650836 rs1245020896 |
740 | F>L | No |
ClinGen TOPMed |
|
|
CA1633057 rs750805266 |
740 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA346650832 rs1574289453 |
741 | E>* | No |
ClinGen Ensembl |
|
|
CA46425067 rs958694076 |
742 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs781409161 CA1633056 |
743 | L>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA46425049 rs1036099705 |
744 | F>L | No |
ClinGen Ensembl |
|
|
CA346650803 rs1237559083 |
745 | P>L | No |
ClinGen gnomAD |
|
|
CA1633054 rs751812633 |
746 | G>A | No |
ClinGen ExAC gnomAD |
|
|
CA1633053 rs764313240 |
747 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA346650795 rs1324288917 |
747 | S>T | No |
ClinGen gnomAD |
|
|
CA346650789 rs1302830465 |
748 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs752764775 CA1633051 |
749 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633050 rs765220619 |
750 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1633049 rs759386085 |
752 | R>I | No |
ClinGen ExAC gnomAD |
|
|
rs1363219410 CA346650758 |
753 | F>Y | No |
ClinGen gnomAD |
|
|
CA346650747 rs1394905972 |
755 | A>P | No |
ClinGen TOPMed |
|
|
CA1633048 rs776547228 |
759 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA346650713 rs774680255 |
760 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA46424979 rs774680255 |
760 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1266285359 CA346650707 |
761 | S>* | No |
ClinGen gnomAD |
|
|
rs1011721880 CA46424955 |
762 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA346650684 rs1574288990 |
764 | E>K | No |
ClinGen Ensembl |
|
|
rs1488795605 CA346650644 |
766 | F>S | No |
ClinGen gnomAD |
|
|
rs1286803488 CA346650618 |
767 | H>Q | No |
ClinGen gnomAD |
|
|
CA346650578 rs1350587402 |
770 | E>A | No |
ClinGen gnomAD |
|
|
rs1267243029 CA346650560 |
771 | G>C | No |
ClinGen TOPMed |
|
|
CA346647964 rs1304848023 |
771 | G>D | No |
ClinGen gnomAD |
|
|
rs1304848023 CA346647962 |
771 | G>V | No |
ClinGen gnomAD |
|
|
CA1632997 rs748503238 |
772 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs761694190 CA46419674 |
772 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs779024965 CA1632996 |
774 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779024965 CA346647945 |
774 | Y>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1241924055 CA346647941 |
775 | T>A | No |
ClinGen gnomAD |
|
|
CA46419621 rs983169822 |
777 | Y>F | No |
ClinGen Ensembl |
|
|
CA346647916 rs756102827 |
778 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346647907 rs1431571915 |
780 | S>C | No |
ClinGen gnomAD |
|
|
CA1632990 rs556481141 |
781 | H>Y | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1377211484 CA346647883 |
783 | I>F | No |
ClinGen gnomAD |
|
|
CA1632989 rs757035929 |
783 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346647885 rs1377211484 |
783 | I>V | No |
ClinGen gnomAD |
|
| TCGA novel | 784 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751322993 CA1632988 |
785 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA46419545 rs902962513 |
786 | G>R | No |
ClinGen TOPMed |
|
|
CA346647828 rs1486748456 |
787 | R>C | No |
ClinGen gnomAD |
|
|
CA1632987 rs763097281 |
787 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346647810 rs1208050582 |
788 | F>C | No |
ClinGen gnomAD |
|
|
CA346647796 rs1323545596 |
789 | Q>* | No |
ClinGen gnomAD |
|
|
CA346647779 rs1264461773 |
790 | T>A | No |
ClinGen gnomAD |
|
|
CA46419539 rs868682639 |
792 | M>I | No |
ClinGen Ensembl |
|
|
CA346647607 rs1221229517 |
792 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
rs752310981 CA1632985 |
793 | E>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 793 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs185200412 CA1632984 |
797 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1574260439 CA346647556 |
799 | F>Y | No |
ClinGen Ensembl |
|
|
rs773886662 CA1632982 |
800 | E>* | No |
ClinGen ExAC gnomAD |
|
|
CA1632980 rs774711325 |
801 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs772657204 CA346647542 |
801 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1632981 rs772657204 |
801 | D>V | No |
ClinGen ExAC gnomAD |
|
|
CA346647540 rs749514382 CA1632977 |
802 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632978 rs749514382 |
802 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346647530 rs375611743 |
803 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA346647532 rs1453465936 |
803 | K>R | No |
ClinGen gnomAD |
|
|
CA1632975 rs769836348 |
804 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1632974 rs745912433 |
806 | A>T | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 807 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs781133228 CA1632973 |
807 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs773535783 CA1632969 |
808 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs777608299 CA1632971 |
808 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632972 rs777608299 |
808 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777608299 CA1632970 |
808 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1187779088 CA346647499 |
809 | L>I | No |
ClinGen gnomAD |
|
|
rs78531159 CA46419444 |
810 | L>M | No |
ClinGen gnomAD |
|
|
rs1244957614 CA346647491 |
810 | L>P | No |
ClinGen gnomAD |
|
|
rs78531159 CA346647493 |
810 | L>V | No |
ClinGen gnomAD |
|
|
CA1632968 rs752366089 |
811 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1363486240 CA346647488 |
811 | M>L | No |
ClinGen TOPMed |
|
|
rs1363486240 CA346647489 |
811 | M>V | No |
ClinGen TOPMed |
|
|
CA1632967 rs764941109 |
812 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1306070614 CA346647464 |
814 | S>* | No |
ClinGen gnomAD |
|
|
rs199529134 CA1632965 |
814 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA46419388 rs867172460 |
815 | K>T | No |
ClinGen Ensembl |
|
|
CA1632964 rs767915404 |
816 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1385587477 CA346647436 |
819 | H>Y | No |
ClinGen gnomAD |
|
|
CA346647430 rs369396814 |
820 | F>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1632963 rs369396814 |
820 | F>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369396814 CA1632962 COSM3426465 |
820 | F>V | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 821 | Q>= | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346647406 rs1349985479 |
822 | D>N | No |
ClinGen gnomAD |
|
|
CA210233 rs201555818 RCV000201417 |
823 | S>L | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1347093309 CA346647386 |
825 | K>E | No |
ClinGen gnomAD |
|
|
rs1321337888 CA346647379 |
826 | L>M | No |
ClinGen gnomAD |
|
|
rs868641394 CA346647363 |
828 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA46416178 rs868641394 |
828 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1237556719 CA346647344 |
831 | Q>* | No |
ClinGen TOPMed |
|
|
rs371803409 CA1632926 |
833 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759791309 CA1632922 |
834 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1632924 rs376783414 |
834 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346647326 rs1198572768 |
834 | L>S | No |
ClinGen gnomAD |
|
|
CA46416154 rs376783414 |
834 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1632921 rs374408400 |
836 | L>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346647315 rs374408400 |
836 | L>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346647306 rs1328507425 |
837 | S>T | No |
ClinGen gnomAD |
|
|
rs200865103 CA1632919 |
840 | T>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1632918 rs535025800 |
840 | T>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1019986897 CA46416111 |
841 | K>E | No |
ClinGen Ensembl |
|
|
rs772203027 CA1632917 |
841 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs201048944 CA1632916 |
842 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs376123654 CA1632912 CA1632913 |
843 | Y>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs769276846 CA1632911 |
844 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1632910 rs745390860 |
844 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1387902320 CA346647258 |
845 | C>Y | No |
ClinGen gnomAD |
|
| TCGA novel | 848 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1632908 rs374562090 |
849 | S>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 850 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1632906 rs370938864 |
851 | L>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370938864 CA46416082 |
851 | L>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346647175 rs1187157861 |
852 | L>P | No |
ClinGen gnomAD |
|
|
CA1632905 rs755356710 |
852 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA346647169 rs1300630154 |
853 | N>Y | No |
ClinGen TOPMed |
|
|
rs1477420597 CA346647157 |
854 | F>L | No |
ClinGen gnomAD |
|
|
CA1632903 rs766628675 |
854 | F>L | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 856 | I>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs760803193 CA1632902 |
856 | I>L | No |
ClinGen ExAC gnomAD |
|
|
CA346647126 rs1205622605 |
856 | I>M | No |
ClinGen gnomAD |
|
|
CA346647135 rs760803193 |
856 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA1632901 rs767683104 |
857 | W>G | No |
ClinGen ExAC gnomAD |
|
|
CA1632900 rs767683104 |
857 | W>R | No |
ClinGen ExAC gnomAD |
|
|
rs774462938 CA1632898 |
859 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA1632899 rs761883837 |
859 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1558965590 CA346647062 |
862 | P>A | No |
ClinGen Ensembl |
|
|
CA1632896 rs199616396 |
862 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1558965590 CA346647061 |
862 | P>S | No |
ClinGen Ensembl |
|
|
CA346647015 rs1454083087 |
866 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
rs373036685 CA1632895 |
866 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1454083087 CA346647019 |
866 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs775083977 CA1632894 |
867 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA1632892 rs780717880 |
868 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780717880 CA1632891 |
868 | Y>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs982811795 CA46415956 |
870 | T>I | No |
ClinGen Ensembl |
|
|
rs920443033 CA46415951 |
871 | Q>R | No |
ClinGen TOPMed |
|
|
rs746470079 CA46415940 |
873 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs746470079 CA1632889 |
873 | V>D | No |
ClinGen ExAC gnomAD |
|
|
CA1632888 rs528934509 |
874 | A>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1236975924 CA346646900 |
876 | D>G | No |
ClinGen gnomAD |
|
|
rs1266198923 CA346646863 |
879 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA346646848 rs753917327 |
880 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA346646841 rs780267647 |
880 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs753917327 CA46415919 |
880 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1632884 rs141548771 |
881 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA46415900 rs764099829 |
884 | V>M | No |
ClinGen Ensembl |
|
|
CA1632882 rs767809836 |
887 | R>G | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 888 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1632881 rs760381683 |
888 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs772738489 CA1632880 |
890 | L>S | No |
ClinGen ExAC gnomAD |
|
|
rs758397403 CA1632861 |
892 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs764135639 CA1632879 |
892 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs567039407 CA1632860 |
893 | I>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346645975 rs1428539415 |
893 | I>V | No |
ClinGen Ensembl |
|
|
CA1632859 rs372737774 |
894 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759261024 CA346645930 |
895 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346645937 rs1181647433 COSM1021006 |
895 | C>Y | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA346645903 rs1574223792 |
897 | M>L | No |
ClinGen Ensembl |
|
|
rs766085265 CA1632856 |
899 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632857 rs776339335 |
899 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs144484852 CA1632855 |
900 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346645844 rs1246018460 |
901 | E>K | No |
ClinGen gnomAD |
|
|
CA346645797 rs1330518604 |
903 | E>D | No |
ClinGen gnomAD |
|
|
rs1197458739 CA346645792 |
904 | V>L | No |
ClinGen TOPMed gnomAD |
|
|
CA346645753 rs768467150 |
906 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1260528811 CA346645747 |
907 | A>T | No |
ClinGen gnomAD |
|
|
rs1199867860 CA346645740 |
907 | A>V | No |
ClinGen gnomAD |
|
|
CA346645738 rs1558958535 COSM1021005 |
908 | E>K | Variant assessed as Somatic; impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
CA46412654 rs1052367886 |
910 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs530439626 CA1632853 |
912 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs747656721 CA346645652 |
914 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346645654 rs747656721 |
914 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632852 rs747656721 |
914 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770280848 CA1632850 |
916 | A>E | No |
ClinGen ExAC gnomAD |
|
|
CA46412632 rs775885637 |
916 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775885637 CA1632851 |
916 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA46412628 rs972529472 |
917 | A>T | No |
ClinGen Ensembl |
|
|
rs961192723 CA46412626 |
917 | A>V | No |
ClinGen TOPMed |
|
|
CA346645588 rs1433509356 |
919 | P>L | No |
ClinGen gnomAD |
|
|
CA1632847 rs757615234 |
920 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs781689937 CA1632848 |
920 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA1632846 rs377003542 |
921 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM575302 rs1174263513 CA346645546 |
923 | R>* | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA1632845 rs372826539 |
923 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA1632844 rs139831932 |
924 | V>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1466186796 CA346645520 |
925 | H>P | No |
ClinGen gnomAD |
|
|
CA346645522 rs1482680004 |
925 | H>Y | No |
ClinGen TOPMed |
|
|
rs1574223230 CA346645495 |
927 | I>V | No |
ClinGen Ensembl |
|
|
rs550605047 CA1632840 |
929 | G>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs765089024 CA1632841 |
929 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747179151 CA46412610 |
930 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747179151 CA1632839 |
930 | A>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346645413 rs1170915198 |
935 | S>C | No |
ClinGen TOPMed |
|
| TCGA novel | 935 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs766140153 CA1632838 |
935 | S>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1296735987 CA346645410 |
936 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs779926699 CA346645384 |
937 | N>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632820 rs755926909 |
938 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs750176984 CA1632819 |
938 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1352223554 CA346645359 |
941 | L>F | No |
ClinGen TOPMed |
|
|
rs1482247411 CA346645340 |
944 | E>G | No |
ClinGen gnomAD |
|
|
rs751092248 CA1632816 |
944 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs975116508 CA46412377 |
945 | W>* | No |
ClinGen TOPMed |
|
|
CA1632815 rs763641575 |
946 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs999717846 CA46412366 |
947 | P>L | No |
ClinGen Ensembl |
|
|
CA1632814 rs374786657 |
947 | P>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1632813 rs777296013 |
948 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1244103874 CA346645309 |
949 | V>A | No |
ClinGen gnomAD |
|
|
CA1632812 rs771503796 |
951 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1350175153 CA346645283 |
953 | L>H | No |
ClinGen gnomAD |
|
|
CA346645279 rs1574221078 |
954 | L>V | No |
ClinGen Ensembl |
|
|
CA1632810 rs773619853 |
955 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1632809 rs191114638 |
957 | Y>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs748378604 CA346645251 |
958 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA1632807 rs778900232 |
958 | R>M | No |
ClinGen ExAC gnomAD |
|
|
rs201907462 CA1632806 |
958 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346645246 rs749318195 |
959 | L>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632805 rs749318195 |
959 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632804 rs779981719 |
962 | V>M | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 963 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1177681931 CA346645212 |
965 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs200421679 CA1632803 |
965 | P>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1177681931 CA346645211 |
965 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1453715252 CA346645194 |
968 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs781034188 CA1632801 |
968 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346645175 rs1209782572 |
970 | S>L | No |
ClinGen gnomAD |
|
|
rs756896707 CA346645170 |
971 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756896707 CA1632800 |
971 | S>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346645168 rs1270088453 |
972 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA346645167 rs1270088453 |
972 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346645150 rs1328728107 |
974 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA346645147 rs1427583935 |
975 | L>F | No |
ClinGen TOPMed |
|
|
rs1442292133 CA346645145 |
975 | L>P | No |
ClinGen gnomAD |
|
|
CA346645148 rs1427583935 |
975 | L>V | No |
ClinGen TOPMed |
|
|
rs763804030 CA1632798 |
977 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs371128693 CA1632797 |
978 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767053473 CA1632795 |
980 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346645111 rs1558957104 |
980 | T>I | No |
ClinGen Ensembl |
|
|
rs767053473 CA346645115 |
980 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632774 rs762241997 |
985 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA346644915 rs1240895196 |
985 | A>V | No |
ClinGen TOPMed |
|
|
rs774639275 CA1632773 |
986 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs1477190015 CA346644908 |
986 | S>T | No |
ClinGen TOPMed |
|
|
CA1632771 rs370549487 |
987 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1632770 rs566178801 |
987 | R>H | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1364452484 CA346644864 |
989 | Q>H | No |
ClinGen gnomAD |
|
|
CA1632768 rs745882269 |
989 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1284263469 CA346644837 |
991 | I>T | No |
ClinGen gnomAD |
|
|
rs374121530 CA1632767 |
992 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1632766 rs770719789 |
994 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1430750037 CA346644784 |
996 | Q>* | No |
ClinGen gnomAD |
|
|
rs1162302858 CA346644779 |
996 | Q>R | No |
ClinGen TOPMed |
|
|
CA346644759 rs143275203 |
998 | R>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1632765 rs143275203 |
998 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA46410766 rs777708794 |
998 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777708794 CA1632764 |
998 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1183638777 CA346644734 |
1000 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1632762 rs747782417 |
1002 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1381795744 CA346644706 |
1002 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA346644663 rs879530844 |
1005 | N>D | No |
ClinGen gnomAD |
|
|
CA46410761 rs879530844 |
1005 | N>H | No |
ClinGen gnomAD |
|
|
rs572416336 CA1632761 |
1005 | N>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA46410760 rs754547792 |
1006 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA1632760 rs754547792 |
1006 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
rs1276505306 CA346644649 |
1006 | Q>R | No |
ClinGen gnomAD |
|
|
CA1632758 rs187866390 |
1007 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs753219365 CA1632759 |
1007 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757691193 CA1632757 |
1009 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs751985267 CA1632756 |
1011 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1030192840 CA346644573 |
1013 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs763207278 CA1632754 |
1013 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1030192840 CA46410751 |
1013 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA346644568 rs1352023991 |
1014 | D>N | No |
ClinGen gnomAD |
|
|
CA346644551 rs1258940137 |
1016 | F>L | No |
ClinGen TOPMed |
|
|
CA346644538 rs376733510 |
1017 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370100401 CA1632753 |
1017 | D>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346644542 rs1306551865 |
1017 | D>Y | No |
ClinGen gnomAD |
|
|
CA346644533 rs1413169687 |
1018 | M>I | No |
ClinGen gnomAD |
|
|
CA1632751 rs759677901 |
1018 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA46410717 rs373308167 |
1018 | M>V | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs575711817 CA46410709 |
1021 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs535126397 CA1632750 |
1021 | L>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs373096415 CA1632748 |
1022 | N>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs773191166 CA1632747 |
1023 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1247166376 CA346644472 |
1024 | S>G | No |
ClinGen gnomAD |
|
|
rs1223696370 CA346644468 |
1024 | S>N | No |
ClinGen gnomAD |
|
|
rs1271987651 CA346644458 |
1025 | V>M | No |
ClinGen gnomAD |
|
|
rs751714783 CA46410687 |
1026 | V>M | No |
ClinGen Ensembl |
|
|
CA346644435 rs1175453293 |
1027 | N>H | No |
ClinGen TOPMed |
|
|
CA46410676 rs944633421 |
1028 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1286101983 CA346644404 |
1029 | D>G | No |
ClinGen gnomAD |
|
|
CA346644392 rs772014934 |
1030 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs772014934 CA1632746 |
1030 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA46410656 rs911701393 |
1031 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs911701393 CA346644385 |
1031 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1632744 rs778711650 |
1032 | T>I | No |
ClinGen ExAC gnomAD |
|
|
CA346644372 rs778711650 |
1032 | T>R | No |
ClinGen ExAC gnomAD |
|
|
CA46410647 rs868545665 |
1033 | E>* | No |
ClinGen gnomAD |
|
|
rs868545665 CA346644366 |
1033 | E>K | No |
ClinGen gnomAD |
|
|
rs1336625796 CA346644340 |
1034 | I>M | No |
ClinGen TOPMed |
|
|
CA1632711 rs189409390 |
1036 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632709 rs745338386 |
1039 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs778270347 CA1632707 |
1042 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758896058 CA1632706 |
1043 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs967271301 CA46401371 |
1044 | V>A | No |
ClinGen Ensembl |
|
|
rs1381582880 CA346643461 |
1045 | T>N | No |
ClinGen gnomAD |
|
|
CA346643455 rs1464303021 |
1046 | A>T | No |
ClinGen gnomAD |
|
|
rs375558518 CA1632704 |
1046 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1431534932 CA346643420 |
1047 | Q>H | No |
ClinGen gnomAD |
|
|
CA1632702 rs754031403 |
1048 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1388299760 CA346643416 |
1048 | M>V | No |
ClinGen gnomAD |
|
|
rs766584038 CA1632701 |
1049 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1050 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1632700 rs756266909 |
1050 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA46401322 rs1009680633 |
1052 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA346643324 rs1207814152 |
1053 | C>S | No |
ClinGen gnomAD |
|
|
rs958014857 CA46401316 |
1053 | C>Y | No |
ClinGen Ensembl |
|
|
rs1221169976 CA346643295 |
1054 | W>S | No |
ClinGen gnomAD |
|
|
rs1574158487 CA346643270 |
1056 | S>G | No |
ClinGen Ensembl |
|
|
CA1632697 rs761836630 |
1056 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA1632695 rs763771797 |
1057 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1410782522 CA346643239 |
1057 | M>R | No |
ClinGen TOPMed |
|
|
rs774239908 CA1632696 |
1057 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1558937770 CA346643225 |
1058 | K>* | No |
ClinGen Ensembl |
|
|
rs1310760511 CA346643216 |
1058 | K>T | No |
ClinGen gnomAD |
|
|
CA346643188 rs1414387585 |
1060 | V>I | No |
ClinGen gnomAD |
|
|
rs1308377552 CA346643155 |
1062 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA1632692 rs769365845 |
1063 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs745444696 CA1632691 |
1064 | L>F | No |
ClinGen ExAC |
|
|
rs367773429 CA46401280 |
1065 | G>D | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1632689 CA346643071 rs772609291 |
1066 | M>I | No |
ClinGen ExAC gnomAD |
|
|
CA1632688 rs748583935 |
1067 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs779428347 CA1632687 |
1068 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1558937625 CA346643015 |
1069 | Q>H | No |
ClinGen Ensembl |
|
|
CA46401269 rs374772675 |
1069 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1337420104 CA346643012 |
1070 | L>I | No |
ClinGen TOPMed |
|
| TCGA novel | 1071 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346642978 rs1482289203 |
1072 | P>A | No |
ClinGen gnomAD |
|
|
CA1632683 rs200340060 |
1073 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA46401254 rs906509321 |
1073 | M>R | No |
ClinGen TOPMed gnomAD |
|
|
rs201189013 CA1632684 COSM1021001 |
1073 | M>V | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
rs756391218 CA1632682 |
1074 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA46401231 rs899363165 |
1074 | Q>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1632681 rs202099412 |
1074 | Q>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs202099412 CA346642933 |
1074 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1046784502 CA46401228 |
1075 | P>S | No |
ClinGen gnomAD |
|
|
CA46401225 rs1037832101 |
1076 | V>L | No |
ClinGen TOPMed |
|
|
CA346642892 rs767672564 |
1077 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767672564 CA1632680 |
1077 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632679 rs188031118 |
1078 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA1632678 rs751470684 |
1079 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
CA346642840 rs1439999304 |
1080 | S>C | No |
ClinGen TOPMed |
|
|
CA346642823 rs1387263033 |
1081 | D>G | No |
ClinGen gnomAD |
|
|
rs376664357 CA346642804 |
1082 | G>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376664357 CA1632676 |
1082 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 1084 | L>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs190742439 CA1632674 |
1085 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs910812116 CA46401182 |
1086 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA346642729 rs1465385865 |
1087 | E>D | No |
ClinGen TOPMed |
|
|
CA1632672 rs776170716 |
1087 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA346640688 rs1471935081 |
1089 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 1091 | E>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1392612425 CA346640628 |
1092 | I>T | No |
ClinGen gnomAD |
|
|
rs777882161 CA1632638 |
1092 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1027463026 CA46393171 |
1093 | G>R | No |
ClinGen TOPMed |
|
|
rs1558915133 CA346640601 |
1094 | D>G | No |
ClinGen Ensembl |
|
|
rs1467094007 CA346640579 |
1095 | Y>* | No |
ClinGen TOPMed |
|
|
rs758319003 CA1632636 |
1095 | Y>S | No |
ClinGen ExAC TOPMed |
|
|
CA346640575 rs1170469665 |
1096 | F>I | No |
ClinGen TOPMed |
|
|
CA346640570 rs1475137183 |
1096 | F>S | No |
ClinGen gnomAD |
|
|
CA1632635 rs752656191 |
1098 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346640500 rs1189879719 |
1099 | H>Q | No |
ClinGen gnomAD |
|
|
CA1632633 rs754774902 |
1100 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1632634 rs754774902 |
1100 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs1309689196 CA346640461 |
1101 | L>S | No |
ClinGen TOPMed |
|
|
CA1632632 rs753572714 |
1102 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1348377486 CA346640412 |
1103 | S>C | No |
ClinGen TOPMed |
|
|
rs760370114 CA1632630 |
1104 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1276719116 CA346640363 |
1106 | R>G | No |
ClinGen gnomAD |
|
|
rs1212258032 CA346640341 |
1106 | R>S | No |
ClinGen gnomAD |
|
|
rs375472884 CA1632629 |
1107 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs767029413 CA346640321 |
1108 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1002869906 CA46393121 |
1108 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1632628 rs767029413 |
1108 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632626 rs776168358 |
1110 | E>G | No |
ClinGen ExAC |
|
|
CA346640180 rs1372892546 |
1114 | T>I | No |
ClinGen gnomAD |
|
|
CA346640116 rs1218429057 |
1117 | V>L | No |
ClinGen gnomAD |
|
|
rs759988302 CA1632624 |
1118 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346640066 rs1409378092 |
1119 | L>F | No |
ClinGen gnomAD |
|
|
CA1632622 rs771102193 |
1121 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA1632623 rs777118298 |
1121 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs773260735 CA1632620 |
1124 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA46927318 rs1046670247 |
1125 | R>S | No |
ClinGen Ensembl |
|
|
rs1277153456 CA346796987 |
1126 | C>S | No |
ClinGen gnomAD |
|
|
CA1632596 rs779807334 |
1129 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA1632595 rs755968207 |
1135 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs745579683 CA1632594 |
1136 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs780907489 CA1632593 |
1136 | E>V | No |
ClinGen ExAC gnomAD |
|
|
CA46927317 rs774810006 |
1137 | Q>R | No |
ClinGen Ensembl |
|
|
CA346796906 rs1156639172 |
1138 | W>* | No |
ClinGen gnomAD |
|
|
CA346796893 rs1180601043 |
1140 | W>* | No |
ClinGen gnomAD |
|
|
CA346796892 rs1195427191 |
1140 | W>* | No |
ClinGen gnomAD |
|
|
rs1425733584 CA346796897 |
1140 | W>R | No |
ClinGen gnomAD |
|
|
CA46927316 rs76054577 |
1141 | S>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1141 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751178725 CA1632591 |
1141 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346796874 rs1251815772 |
1143 | L>S | No |
ClinGen gnomAD |
|
|
CA46927315 rs1053152577 |
1147 | K>I | No |
ClinGen Ensembl |
|
|
CA346796837 rs1215474172 |
1148 | C>Y | No |
ClinGen gnomAD |
|
|
CA346796829 rs1181471851 |
1149 | S>N | No |
ClinGen TOPMed |
|
|
CA1632588 rs754404966 |
1150 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA1632587 rs766732650 |
1151 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767305014 CA346796816 |
1151 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs767305014 CA46927314 |
1151 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1632584 rs767796761 |
1153 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs572395673 CA46927313 |
1154 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA1632583 rs572395673 |
1154 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs375959741 CA1632580 |
1157 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199669113 CA1632579 |
1158 | T>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346796769 rs1394459166 |
1159 | R>T | No |
ClinGen gnomAD |
|
|
CA1632577 rs745729441 |
1160 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1632576 rs745729441 |
1160 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770743595 CA346796752 |
1162 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770743595 CA1632574 |
1162 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA46927312 rs925987619 |
1163 | G>* | No |
ClinGen gnomAD |
|
|
CA46927311 rs746685339 |
1163 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632573 rs746685339 |
1163 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs925987619 CA346796748 |
1163 | G>R | No |
ClinGen gnomAD |
|
|
rs866355500 CA46927310 |
1165 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs777531225 CA1632572 |
1166 | F>C | No |
ClinGen ExAC gnomAD |
|
|
CA1632570 rs752090937 |
1168 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346796718 rs752090937 |
1168 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780668726 CA1632569 |
1169 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA46926917 rs936125874 |
1170 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1307516986 CA346796688 |
1170 | A>V | No |
ClinGen gnomAD |
|
|
rs1297083091 CA346796671 |
1173 | A>G | No |
ClinGen gnomAD |
|
|
rs756694917 CA1632551 |
1174 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs1035492787 CA46926916 |
1175 | E>* | No |
ClinGen TOPMed |
|
|
CA46926915 rs774623519 |
1176 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1475049735 CA346796633 |
1179 | G>D | No |
ClinGen TOPMed gnomAD |
|
|
CA346796635 rs1381925190 |
1179 | G>R | No |
ClinGen TOPMed |
|
|
CA346796626 rs1184503236 |
1180 | R>K | No |
ClinGen gnomAD |
|
|
rs950252749 CA46926913 |
1181 | M>I | No |
ClinGen TOPMed |
|
|
rs757622946 CA1632548 |
1181 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs972860825 CA46926911 |
1182 | D>G | No |
ClinGen TOPMed |
|
|
CA346796615 rs917506225 |
1182 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA46926912 rs917506225 |
1182 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA346796587 rs1210469367 |
1186 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs7578597 VAR_054072 CA1632546 |
1187 | T>A | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs764354021 CA1632545 |
1187 | T>I | No |
ClinGen ExAC |
|
|
rs1271446013 CA346796560 |
1190 | E>K | No |
ClinGen gnomAD |
|
|
rs1330156923 CA346796540 |
1192 | I>M | No |
ClinGen gnomAD |
|
|
rs763077417 CA1632544 |
1192 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA346796526 rs1279891208 |
1195 | A>T | No |
ClinGen gnomAD |
|
|
CA46926910 rs910077873 |
1196 | G>R | No |
ClinGen TOPMed |
|
|
CA1632540 rs776717012 |
1198 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346796504 rs1440917469 |
1199 | D>N | No |
ClinGen gnomAD |
|
|
rs766364697 CA1632539 |
1200 | D>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA46926909 rs749601221 |
1201 | I>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749601221 CA1632537 |
1201 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1202 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs376577667 CA46926908 |
1202 | Q>R | No |
ClinGen ESP TOPMed gnomAD |
|
|
CA1632536 rs771799454 |
1204 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA46926906 rs893842463 |
1206 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346796423 rs1191321773 |
1209 | H>R | No |
ClinGen gnomAD |
|
|
CA346796401 rs1333442088 |
1212 | N>S | No |
ClinGen TOPMed |
|
|
CA346796392 rs1260767989 |
1213 | I>S | No |
ClinGen gnomAD |
|
|
CA46925950 rs1016915211 |
1216 | A>V | No |
ClinGen gnomAD |
|
|
rs1278129279 CA346796366 |
1217 | L>F | No |
ClinGen gnomAD |
|
|
rs1005992799 CA46925949 |
1219 | R>T | No |
ClinGen Ensembl |
|
|
CA1632522 rs763566405 |
1221 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632521 rs763566405 |
1221 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA346796340 rs763566405 |
1221 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs569500735 CA1632519 |
1222 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs199598541 CA1632518 |
1222 | R>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346796331 rs1300334091 |
1223 | L>R | No |
ClinGen gnomAD |
|
|
rs773877085 CA1632515 |
1224 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA1632517 rs761627286 CA1632516 |
1224 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1225 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346796315 rs1417035743 |
1226 | N>S | No |
ClinGen gnomAD |
|
|
CA1632513 rs748853427 |
1228 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632512 rs774972640 |
1229 | P>S | Variant assessed as Somatic; 4.688e-05 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs771463563 CA1632511 |
1231 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs1378431875 CA346796283 |
1231 | V>F | No |
ClinGen TOPMed |
|
|
rs752399254 CA1632510 |
1233 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418908095 CA346796270 |
1233 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1632509 CA346796267 rs778200995 |
1234 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs904296760 CA46925948 |
1234 | G>V | No |
ClinGen Ensembl |
|
|
CA1632508 rs758697239 |
1235 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs748490679 CA1632507 |
1237 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs145039246 CA1632506 |
1237 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs766547348 CA1632503 |
1239 | I>F | No |
ClinGen ExAC gnomAD |
|
|
rs766547348 CA1632504 |
1239 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA346796211 rs1188391024 |
1243 | T>I | No |
ClinGen gnomAD |
|
|
rs377547583 CA1632501 |
1245 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1632499 rs761525665 |
1246 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632498 rs751355658 |
1247 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA346796181 rs1293121476 |
1248 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs763922768 CA1632478 |
1249 | V>E | No |
ClinGen ExAC gnomAD |
|
|
rs762684727 CA346796163 |
1250 | R>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376131661 CA1632476 |
1250 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376131661 CA1632475 |
1250 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346796147 rs1253075016 |
1252 | S>L | No |
ClinGen gnomAD |
|
|
rs992431859 CA46924228 |
1253 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1216898715 CA346796137 |
1254 | T>I | No |
ClinGen gnomAD |
|
|
rs1460983860 CA346796133 |
1255 | L>F | No |
ClinGen TOPMed |
|
|
rs772499337 CA1632472 |
1256 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs774673118 CA346796108 |
1259 | A>P | No |
ClinGen ExAC gnomAD |
|
|
CA1632471 rs774673118 |
1259 | A>S | No |
ClinGen ExAC gnomAD |
|
|
CA1632470 rs774673118 |
1259 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs769176976 CA346796099 CA1632469 |
1260 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs749595373 CA1632468 |
1261 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA346796091 rs1438832390 |
1262 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
CA1632467 rs780436335 |
1265 | F>S | No |
ClinGen ExAC gnomAD |
|
|
rs770126262 CA1632466 |
1266 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA346796058 rs1325199473 |
1267 | V>F | No |
ClinGen TOPMed |
|
|
CA346796055 rs1558837118 |
1267 | V>G | No |
ClinGen Ensembl |
|
| TCGA novel | 1269 | R>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs374571276 CA1632464 |
1270 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs757187195 CA1632463 |
1270 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632462 rs751535268 |
1271 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs777645816 CA346796025 |
1272 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777645816 CA1632461 |
1272 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1174916300 CA346796018 |
1273 | E>A | No |
ClinGen gnomAD |
|
|
rs1423945435 CA346796009 |
1274 | H>R | No |
ClinGen gnomAD |
|
|
CA346796011 rs1266316090 |
1274 | H>Y | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 1277 | T>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346795986 rs1186731982 |
1277 | T>I | No |
ClinGen gnomAD |
|
| TCGA novel | 1279 | R>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA46924226 rs1026770658 |
1279 | R>K | No |
ClinGen TOPMed gnomAD |
|
|
CA346795958 rs1330175259 |
1279 | R>S | No |
ClinGen gnomAD |
|
|
CA46916871 rs368185063 |
1280 | M>V | No |
ClinGen Ensembl |
|
|
CA1632435 rs778660975 |
1281 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA346795945 rs1573605329 |
1281 | T>R | No |
ClinGen Ensembl |
|
|
rs765881990 CA1632432 |
1287 | S>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755661231 CA1632431 |
1288 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749886006 CA1632430 |
1288 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346795899 rs749886006 |
1288 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA46916870 rs951712522 |
1290 | P>R | No |
ClinGen TOPMed |
|
|
CA346795887 rs1417911685 |
1290 | P>S | No |
ClinGen gnomAD |
|
|
rs370950660 CA1632429 |
1291 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA46916869 rs375764341 |
1292 | L>P | No |
ClinGen ESP |
|
|
CA346795876 rs1251406541 |
1292 | L>V | No |
ClinGen gnomAD |
|
|
CA346795868 rs1207781995 |
1293 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
CA346795869 rs1207781995 |
1293 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
rs776041607 CA46916868 |
1294 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA1632427 rs776041607 |
1294 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA346795862 rs776041607 |
1294 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1632428 rs763522533 |
1294 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223157155 CA346795852 |
1296 | L>V | No |
ClinGen TOPMed |
|
|
CA346795845 rs1241096347 |
1297 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA346795847 rs1241096347 |
1297 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA346795827 CA1632426 rs758123298 |
1299 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA46916866 rs34612589 |
1300 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs74537080 CA46916865 |
1301 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs776914206 CA346795807 |
1303 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs776914206 CA1632424 |
1303 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1321181517 CA346795797 |
1304 | A>V | No |
ClinGen gnomAD |
|
|
CA1632423 rs771047180 |
1306 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs1291065504 CA346795783 |
1307 | V>I | No |
ClinGen gnomAD |
|
|
rs1425258853 CA346795771 |
1308 | D>E | No |
ClinGen TOPMed |
|
|
CA46916863 rs1005007701 |
1309 | S>R | No |
ClinGen gnomAD |
|
|
CA346795737 rs1195520135 |
1311 | M>T | No |
ClinGen gnomAD |
|
|
rs373241931 CA1632414 |
1311 | M>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1301478927 CA346795733 |
1312 | G>R | No |
ClinGen TOPMed |
|
|
rs749992686 CA1632413 |
1313 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs756773881 CA1632411 |
1314 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632412 rs780826956 |
1314 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs753284105 CA1632410 |
1316 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs753284105 CA346795707 |
1316 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632408 rs200421057 |
1316 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1632409 rs200421057 |
1316 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1199412028 CA346795700 |
1317 | H>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1199412028 CA346795701 |
1317 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA346795695 rs1339614664 |
1318 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs750011789 CA46916603 |
1319 | S>C | No |
ClinGen TOPMed |
|
|
CA346795690 rs750011789 |
1319 | S>G | No |
ClinGen TOPMed |
|
|
CA46916602 rs935610225 |
1319 | S>N | No |
ClinGen TOPMed |
|
|
rs754152083 CA1632407 |
1320 | M>L | No |
ClinGen ExAC gnomAD |
|
|
rs1573594516 CA346795683 |
1320 | M>T | No |
ClinGen Ensembl |
|
| TCGA novel | 1321 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs572727900 CA1632406 |
1322 | L>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346795668 rs1217122584 |
1322 | L>V | No |
ClinGen gnomAD |
|
|
CA346795658 rs1255197691 |
1323 | L>F | No |
ClinGen TOPMed |
|
|
CA1632405 rs760789285 |
1324 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1632402 rs369627486 |
1326 | V>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369627486 CA1632403 |
1326 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs201128133 CA1632398 |
1331 | Y>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346795609 rs1465352728 |
1331 | Y>C | No |
ClinGen gnomAD |
|
|
CA1632399 rs749171840 |
1331 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM1020997 rs374567143 CA1632396 |
1332 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs958389576 CA46916601 |
1333 | S>F | No |
ClinGen TOPMed |
|
|
CA346795601 rs1174499939 |
1333 | S>P | No |
ClinGen TOPMed |
|
|
CA1632395 rs780951604 |
1334 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780951604 CA346795594 |
1334 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346795587 rs1437917951 |
1335 | M>I | No |
ClinGen gnomAD |
|
|
rs751054086 CA1632393 |
1335 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs766919709 CA1632392 |
1336 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA346795576 rs1316967181 |
1337 | G>S | No |
ClinGen gnomAD |
|
|
rs1274177901 CA346795568 |
1338 | T>N | No |
ClinGen gnomAD |
|
|
rs754278667 CA1632390 |
1339 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1553438872 CA1632388 |
1341 | A>T | No |
ClinGen Ensembl |
|
|
rs1284127353 CA346795550 |
1341 | A>V | No |
ClinGen gnomAD |
|
|
CA1632385 rs760992778 |
1342 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs376676079 CA1632386 |
1342 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1632383 rs767672216 |
1343 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346795541 rs1165331139 |
1343 | S>I | No |
ClinGen TOPMed gnomAD |
|
|
CA346795542 rs1165331139 |
1343 | S>T | No |
ClinGen TOPMed gnomAD |
|
|
CA1632382 rs371383318 |
1344 | M>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs774406944 CA1632381 |
1345 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA346795530 rs1307999607 |
1345 | G>R | No |
ClinGen TOPMed |
|
|
rs367558358 CA1632380 |
1346 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs762773881 CA1632379 |
1348 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346795512 rs762773881 |
1348 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775445499 CA1632378 |
1349 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs775445499 CA346795506 |
1349 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA1632377 rs769507793 |
1350 | F>V | No |
ClinGen ExAC gnomAD |
|
|
rs745590959 CA1632376 |
1351 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA346795494 rs1285645025 |
1351 | I>V | No |
ClinGen gnomAD |
|
|
CA1632375 rs375300314 |
1352 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346795481 rs1320303174 |
1353 | R>G | No |
ClinGen gnomAD |
|
|
rs1558743801 CA346795477 |
1353 | R>K | No |
ClinGen Ensembl |
|
|
rs56269749 CA1632358 RCV000950080 |
1353 | R>S | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA346794722 rs1217660859 |
1354 | C>S | No |
ClinGen gnomAD |
|
|
rs770757753 CA1632357 |
1355 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632356 rs746683362 |
1358 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346794607 rs1431247906 |
1361 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA346794611 rs1354728330 |
1361 | H>R | No |
ClinGen TOPMed |
|
|
rs1362303136 CA346794603 |
1362 | S>T | No |
ClinGen gnomAD |
|
|
CA1632355 rs772880597 |
1362 | S>Y | No |
ClinGen ExAC gnomAD |
|
|
rs771492300 CA1632354 |
1363 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346794594 rs1375516302 |
1363 | R>H | No |
ClinGen gnomAD |
|
|
rs1375429504 CA346794591 |
1364 | E>K | No |
ClinGen TOPMed |
|
|
CA346794582 rs1177654322 |
1365 | M>V | No |
ClinGen gnomAD |
|
|
CA346794574 rs1431071311 |
1366 | A>T | No |
ClinGen gnomAD |
|
|
CA346794569 rs1424056306 |
1366 | A>V | No |
ClinGen gnomAD |
|
|
CA46912846 rs368607191 |
1367 | A>P | No |
ClinGen ESP ExAC gnomAD |
|
|
rs368607191 CA1632353 |
1367 | A>T | No |
ClinGen ESP ExAC gnomAD |
|
|
CA1632352 rs780486249 |
1368 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs756611622 CA1632351 |
1368 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409485099 CA346794537 |
1369 | A>V | No |
ClinGen gnomAD |
|
|
rs1311789471 CA346794500 |
1372 | P>L | No |
ClinGen gnomAD |
|
|
CA46912845 rs889995937 |
1372 | P>T | No |
ClinGen gnomAD |
|
| TCGA novel | 1373 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757565644 CA1632348 |
1373 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA46912844 rs934419812 |
1373 | F>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1342122485 CA346794472 |
1374 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
CA1632347 rs751757187 |
1375 | M>L | No |
ClinGen ExAC |
|
|
rs529935819 CA1632345 |
1375 | M>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs529935819 CA1632346 |
1375 | M>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346794403 rs1356064931 |
1378 | H>Q | No |
ClinGen gnomAD |
|
|
CA346794407 rs1399288216 |
1378 | H>R | No |
ClinGen gnomAD |
|
|
CA346794387 rs1308327649 |
1379 | I>M | No |
ClinGen TOPMed |
|
|
rs1573456131 CA346794396 |
1379 | I>V | No |
ClinGen Ensembl |
|
|
CA1632344 rs752807012 |
1380 | P>T | No |
ClinGen ExAC TOPMed |
|
|
CA1632343 rs370231636 |
1381 | N>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346794351 rs1457327803 |
1382 | T>S | No |
ClinGen TOPMed |
|
|
CA1632342 rs199909782 |
1383 | I>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1632340 rs548266644 COSM3426464 |
1384 | R>* | large_intestine Variant assessed as Somatic; 4.641e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs548266644 CA1632339 |
1384 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs377643139 CA346794330 |
1384 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632338 rs377643139 |
1384 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA46912843 rs33979934 |
1385 | T>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_054073 rs33979934 CA1632337 |
1385 | T>S | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1180124387 CA346794280 |
1388 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
CA46912842 rs377673222 |
1389 | T>I | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1327886829 CA346794277 |
1389 | T>P | No |
ClinGen TOPMed |
|
|
rs773822690 CA1632334 |
1390 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA346794252 rs1435614948 |
1391 | P>S | No |
ClinGen TOPMed |
|
| TCGA novel | 1392 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346794235 rs1316336706 |
1392 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs746392384 CA1632330 |
1393 | C>* | No |
ClinGen ExAC gnomAD |
|
|
rs781631410 CA1632329 |
1394 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771289600 CA1632328 |
1395 | D>H | No |
ClinGen ExAC gnomAD |
|
|
CA1632327 rs777912941 |
1398 | F>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346794127 rs1216563958 |
1398 | F>L | No |
ClinGen TOPMed |
|
|
CA1632326 rs777912941 |
1398 | F>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346794110 rs370092582 |
1399 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1632324 rs370092582 |
1399 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
COSM1020995 CA1632325 rs182266798 |
1399 | R>W | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1632323 rs779157211 |
1400 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1275074355 CA346794085 |
1402 | H>R | No |
ClinGen TOPMed |
|
|
CA346794071 rs1170365535 |
1404 | H>R | No |
ClinGen gnomAD |
|
|
CA346794060 rs1462300721 |
1406 | T>A | No |
ClinGen gnomAD |
|
|
rs753830995 CA1632321 |
1407 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1632320 rs546423687 |
1408 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA46912841 rs760017796 |
1409 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346793503 rs1233476731 |
1410 | V>I | No |
ClinGen gnomAD |
|
|
rs1332508930 CA346793487 |
1411 | F>S | No |
ClinGen gnomAD |
|
|
rs761472063 CA1632291 |
1412 | H>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632287 rs774974567 |
1414 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1359947372 CA346793434 |
1415 | Q>E | No |
ClinGen gnomAD |
|
|
rs367984894 CA1632286 |
1415 | Q>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1376168649 CA346793417 |
1416 | A>T | No |
ClinGen gnomAD |
|
|
CA46905871 rs868103313 |
1416 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA346793405 rs1432402515 |
1417 | Y>S | No |
ClinGen gnomAD |
|
|
CA1632285 rs761269249 |
1418 | S>* | No |
ClinGen ExAC gnomAD |
|
|
rs748466079 CA1632282 |
1420 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs926936403 CA46905870 |
1421 | K>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1253887914 CA346793344 |
1421 | K>N | No |
ClinGen gnomAD |
|
| TCGA novel | 1421 | K>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1632280 rs768999434 |
1423 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA1632278 rs141195177 |
1424 | T>M | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1632277 rs141195177 |
1424 | T>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs780921296 CA1632275 |
1425 | N>D | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1425 | N>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs757084513 CA1632274 |
1428 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs564383457 CA1632273 |
1429 | Q>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA346793240 rs1484266394 |
1429 | Q>H | No |
ClinGen TOPMed |
|
|
rs763803266 CA1632272 |
1430 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs746487271 CA1632270 |
1431 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374645810 CA46905869 |
1432 | L>M | No |
ClinGen ESP |
|
|
rs1476770326 CA346793196 |
1433 | T>A | No |
ClinGen gnomAD |
|
|
CA1632269 rs764835676 |
1433 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs370115327 CA46905868 |
1434 | D>G | No |
ClinGen gnomAD |
|
|
CA346793175 rs1215446607 |
1435 | I>V | No |
ClinGen gnomAD |
|
|
rs1199497866 CA346793155 |
1436 | T>I | No |
ClinGen gnomAD |
|
|
rs767897367 CA346793104 |
1440 | K>I | No |
ClinGen ExAC gnomAD |
|
|
rs767897367 CA1632266 |
1440 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1217220320 CA346793075 |
1442 | K>N | No |
ClinGen gnomAD |
|
|
CA1632265 rs61754254 |
1443 | L>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA346793063 rs1285318553 |
1443 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1632264 rs774830630 |
1444 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346793051 rs774830630 |
1444 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1445 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1632263 rs769050649 |
1445 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1632260 rs769919179 |
1447 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1010599811 CA346792971 |
1449 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1010599811 CA46902902 |
1449 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1010599811 CA346792972 |
1449 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA346792961 rs1438355801 |
1450 | N>S | No |
ClinGen gnomAD |
|
|
CA346792956 rs17334247 |
1451 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs17334247 RCV000949480 VAR_054074 CA1632236 |
1451 | P>S | No |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA346792951 rs1420250214 |
1452 | C>R | No |
ClinGen TOPMed |
|
|
CA1632235 rs777623248 |
1453 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA46902901 rs373483202 |
1454 | V>M | No |
ClinGen ESP TOPMed |
|
|
CA346792926 rs1361867645 |
1456 | R>G | No |
ClinGen gnomAD |
|
|
rs771870042 CA1632234 |
1458 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs80019860 CA1632233 |
1459 | Y>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs80019860 CA1632232 |
1459 | Y>H | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs754559135 CA1632231 |
1460 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA346792895 rs1284250185 |
1461 | D>Y | No |
ClinGen TOPMed |
|
|
CA1632230 rs753440650 |
1462 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1573051093 CA346792876 COSM721835 |
1464 | F>L | lung [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA346792852 rs1288189314 |
1467 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA46902900 rs998113941 |
1468 | C>G | No |
ClinGen Ensembl |
|
|
CA346792825 rs1217994941 |
1471 | N>S | No |
ClinGen TOPMed |
|
|
rs752998473 CA1632224 |
1476 | D>E | No |
ClinGen ExAC gnomAD |
|
|
CA1632226 rs764636271 |
1476 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs201616676 CA1632225 |
1476 | D>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1281015129 CA346792790 |
1477 | N>H | No |
ClinGen gnomAD |
|
|
rs1217751231 CA346792786 |
1477 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1632222 rs759653562 |
1479 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1475811948 CA346795462 |
1480 | V>A | No |
ClinGen TOPMed |
|
|
rs767494589 CA1632199 |
1483 | S>G | No |
ClinGen ExAC gnomAD |
|
|
rs761680850 CA1632198 |
1483 | S>I | No |
ClinGen ExAC gnomAD |
|
|
rs1249469121 CA346795440 |
1484 | L>F | No |
ClinGen gnomAD |
|
|
CA1632197 rs774309088 |
1485 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1188327703 CA346795435 |
1485 | G>S | No |
ClinGen TOPMed |
|
|
CA346795431 rs774309088 |
1485 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1314184857 CA346795427 |
1486 | F>S | No |
ClinGen gnomAD |
|
|
CA346795419 rs1409636877 |
1487 | W>L | No |
ClinGen TOPMed |
|
|
rs768344582 CA1632196 |
1488 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA346795413 rs1243145217 |
1488 | E>K | No |
ClinGen gnomAD |
|
|
CA346795401 rs1309515700 |
1489 | E>V | No |
ClinGen gnomAD |
|
|
rs1164392015 CA346795395 |
1490 | V>D | No |
ClinGen TOPMed |
|
|
rs749050784 CA1632195 |
1491 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632194 rs775336282 |
1492 | G>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 1494 | I>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs745407637 CA1632192 |
1495 | S>L | No |
ClinGen ExAC gnomAD |
|
|
CA1632191 rs780825016 |
1496 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA46899639 rs867018231 |
1496 | G>V | No |
ClinGen Ensembl |
|
|
CA346795353 CA346795354 rs1352155595 |
1497 | S>* | No |
ClinGen gnomAD |
|
|
rs779418362 CA1632188 |
1500 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632189 rs748633101 |
1500 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1046806468 CA46899638 |
1501 | T>A | No |
ClinGen TOPMed |
|
|
COSM1267744 CA46899637 rs946905474 |
1501 | T>M | oesophagus [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA346795325 rs1246272975 |
1502 | G>V | No |
ClinGen TOPMed |
|
|
CA346795318 rs1248124819 |
1503 | F>L | No |
ClinGen gnomAD |
|
|
CA346795314 rs1195031721 |
1504 | P>S | No |
ClinGen gnomAD |
|
|
COSM721837 rs199689117 CA46899636 |
1506 | A>S | lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes NCI-TCGA |
|
CA1632185 rs766629856 |
1509 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA1632186 rs754200134 |
1509 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA346795275 rs1558531907 |
1510 | P>A | No |
ClinGen Ensembl |
|
|
CA346795273 rs369662844 |
1510 | P>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1632183 rs369662844 |
1510 | P>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs376390075 CA1632182 |
1511 | G>D | No |
ClinGen ESP ExAC gnomAD |
|
|
rs376390075 CA346795267 |
1511 | G>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs761888989 CA1632181 |
1513 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1481587503 CA346795254 |
1514 | Q>* | No |
ClinGen gnomAD |
|
| TCGA novel | 1514 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA46899635 rs975506975 |
1515 | Y>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1387719931 CA346795246 |
1515 | Y>D | No |
ClinGen gnomAD |
|
|
CA346795244 rs975506975 |
1515 | Y>F | No |
ClinGen TOPMed gnomAD |
|
|
rs975506975 CA346795245 |
1515 | Y>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346795223 rs1572944350 |
1518 | S>T | No |
ClinGen Ensembl |
|
|
CA346795215 rs1572944343 |
1519 | L>P | No |
ClinGen Ensembl |
|
|
CA346795212 rs1572944315 |
1520 | T>P | No |
ClinGen Ensembl |
|
|
rs942366058 CA46899634 |
1521 | R>G | No |
ClinGen TOPMed |
|
|
rs1160584460 CA346795203 |
1521 | R>S | No |
ClinGen gnomAD |
|
|
CA1632177 rs775391450 |
1521 | R>T | No |
ClinGen ExAC gnomAD |
|
|
rs911374261 CA46899633 |
1522 | L>V | No |
ClinGen gnomAD |
|
|
rs372401509 CA346795187 |
1524 | I>M | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 1524 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs776382392 CA1632174 |
1524 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA346795184 rs1218505226 |
1525 | A>S | No |
ClinGen TOPMed |
|
|
CA346795182 rs1240447504 |
1525 | A>V | No |
ClinGen TOPMed |
|
|
CA346795177 rs1197148640 |
1526 | A>E | No |
ClinGen gnomAD |
|
|
CA1632172 rs746516287 |
1527 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs1475088922 CA346795166 |
1528 | W>* | No |
ClinGen TOPMed |
|
|
CA1632170 rs755480967 |
1530 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749703786 CA1632169 |
1530 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs756433637 CA1632167 |
1531 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs750653209 CA1632166 |
1533 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA346795125 rs1572944058 |
1534 | S>R | No |
ClinGen Ensembl |
|
|
rs375003194 CA1632164 |
1535 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs781420465 CA1632165 |
1535 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346795121 rs375003194 |
1535 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751650394 CA1632163 |
1536 | E>* | No |
ClinGen ExAC gnomAD |
|
|
rs763976539 CA1632162 |
1536 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs368805649 CA1632161 |
1537 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346795113 rs1380618914 |
1537 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs972810310 CA46899632 |
1538 | E>Q | No |
ClinGen Ensembl |
|
|
rs199712314 CA1632158 |
1539 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770613871 CA1632156 |
1540 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA1632155 rs760144479 |
1541 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346795074 rs1452720331 |
1543 | I>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA1632153 rs57257569 |
1544 | S>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1632151 rs780476875 |
1545 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs750579187 CA1632149 |
1546 | S>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632150 rs770161216 |
1546 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA346795056 rs1223314622 |
1547 | Q>E | No |
ClinGen gnomAD |
|
|
CA346795053 rs1572943738 |
1547 | Q>R | No |
ClinGen Ensembl |
|
|
CA346795039 rs1351782178 |
1549 | L>F | No |
ClinGen TOPMed |
|
|
CA346795036 rs1225983961 |
1550 | E>K | No |
ClinGen TOPMed |
|
|
CA346795029 rs1325897252 |
1551 | S>A | No |
ClinGen TOPMed gnomAD |
|
|
rs1325897252 CA346795028 |
1551 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
CA1632144 rs527237721 |
1554 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs558997006 CA46899631 |
1555 | E>V | No |
ClinGen 1000Genomes TOPMed |
|
|
CA1632142 rs765208529 COSM3407863 |
1557 | R>C | central_nervous_system [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA1632141 rs759472606 |
1557 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1313757059 CA346794982 |
1558 | S>L | No |
ClinGen TOPMed gnomAD |
|
|
rs200863125 CA346794979 |
1559 | L>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200863125 CA1632138 |
1559 | L>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs573383426 CA1632136 |
1562 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs761258931 CA1632135 |
1563 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346794955 rs761258931 |
1563 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1194560863 CA346794949 |
1564 | L>R | No |
ClinGen gnomAD |
|
|
rs1339328967 CA346794938 |
1566 | E>G | No |
ClinGen gnomAD |
|
|
rs1247086713 CA346794913 |
1569 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1247086713 CA346794914 |
1569 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs770277814 CA1632133 |
1570 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632132 rs746253931 |
1570 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs781596030 CA1632131 |
1571 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA346794899 rs1444800917 |
1572 | A>S | No |
ClinGen TOPMed |
|
|
rs771149151 CA1632130 |
1572 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1408096176 CA346794877 COSM721839 |
1576 | G>R | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs1224616025 CA346794868 |
1577 | E>G | No |
ClinGen TOPMed |
|
|
rs1558530996 CA346794872 |
1577 | E>K | No |
ClinGen Ensembl |
|
|
rs747285389 CA1632129 |
1579 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632127 rs758564351 |
1580 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346794839 rs748234890 |
1582 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779034241 CA1632125 |
1582 | P>H | No |
ClinGen ExAC gnomAD |
|
|
CA46899627 rs779034241 |
1582 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA1632126 rs748234890 |
1582 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346794840 rs748234890 |
1582 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA46899626 rs1049195279 |
1583 | L>W | No |
ClinGen TOPMed |
|
|
rs1439972377 CA346794818 |
1586 | N>D | No |
ClinGen gnomAD |
|
|
CA1632124 rs754945039 |
1586 | N>S | No |
ClinGen ExAC gnomAD |
|
|
CA1632123 rs753670448 |
1588 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs370554521 CA1632122 |
1588 | G>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346794797 rs1186943213 |
1589 | E>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs750107716 CA1632120 |
1590 | K>E | No |
ClinGen ExAC |
|
|
rs761375452 CA1632118 |
1593 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA1632117 rs773814754 |
1594 | L>S | No |
ClinGen ExAC gnomAD |
|
|
CA346794756 rs1379426338 |
1595 | A>T | No |
ClinGen gnomAD |
|
|
CA346794750 rs566925095 |
1596 | M>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1632114 rs566925095 |
1596 | M>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346794741 rs1335038174 |
1597 | K>E | No |
ClinGen gnomAD |
|
|
rs1426517185 CA346794713 |
1599 | N>Y | No |
ClinGen gnomAD |
|
|
CA46899625 rs35720761 |
1605 | C>F | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1632112 rs35720761 |
1605 | C>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
VAR_054075 CA1632111 rs35720761 |
1605 | C>Y | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA46899555 rs977222960 |
1607 | I>V | No |
ClinGen Ensembl |
|
|
CA346794517 rs1290704419 |
1610 | I>T | No |
ClinGen gnomAD |
|
|
CA1632093 rs202161314 |
1611 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375630962 CA346794496 |
1612 | H>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs761142574 CA1632092 |
1612 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs772518035 CA1632090 |
1613 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs748414681 CA1632089 CA46899553 |
1614 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346794480 rs748414681 |
1614 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632088 rs774651058 |
1615 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346794462 rs774651058 |
1615 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346794456 rs1345691974 |
1616 | P>A | No |
ClinGen gnomAD |
|
|
rs1164015549 CA346794452 |
1616 | P>R | No |
ClinGen TOPMed |
|
|
CA346794429 rs1359416100 |
1618 | E>D | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA46899552 rs139334985 |
1618 | E>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA1632087 rs768798061 |
1619 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs749319540 CA1632086 |
1621 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572940488 CA346794379 |
1622 | Q>P | No |
ClinGen Ensembl |
|
|
rs769583799 CA1632084 |
1623 | T>A | No |
ClinGen ExAC TOPMed |
|
|
CA346794369 rs780984068 |
1623 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs780984068 CA1632082 |
1623 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632083 rs780984068 |
1623 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751216022 CA1632080 |
1624 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186035613 CA346794350 |
1625 | H>N | No |
ClinGen gnomAD |
|
|
CA1632079 rs777348090 |
1625 | H>P | No |
ClinGen ExAC gnomAD |
|
|
rs1186035613 CA346794346 |
1625 | H>Y | No |
ClinGen gnomAD |
|
|
rs146912753 CA1632078 |
1626 | C>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA46899551 rs998436438 |
1628 | H>R | No |
ClinGen gnomAD |
|
|
CA1632076 rs766959700 |
1628 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs34600960 CA46899550 COSM419163 |
1629 | L>V | urinary_tract [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA346794288 rs1309212843 |
1631 | P>S | No |
ClinGen gnomAD |
|
|
CA1632073 rs768000359 |
1633 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 1634 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1572940307 CA346794247 |
1634 | F>V | No |
ClinGen Ensembl |
|
|
CA1632072 rs201100629 |
1637 | W>* | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1450095520 CA346794205 |
1638 | T>A | No |
ClinGen gnomAD |
|
|
rs200266713 CA1632071 |
1638 | T>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs369444028 CA1632068 |
1639 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs763137214 CA1632069 |
1639 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769859816 CA1632067 |
1640 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346794175 rs1387228288 |
1641 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1632066 rs745832871 |
1642 | A>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA1632065 rs781038918 |
1642 | A>V | No |
ClinGen ExAC gnomAD |
|
|
CA46899548 rs377250218 |
1644 | N>S | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs746792700 CA346794112 |
1646 | R>I | No |
ClinGen ExAC gnomAD |
|
|
CA1632063 rs746792700 |
1646 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs1301304136 CA346794024 |
1646 | R>S | No |
ClinGen TOPMed gnomAD |
|
|
CA1632064 rs746792700 |
1646 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA346794018 rs1572938779 |
1647 | S>C | No |
ClinGen Ensembl |
|
|
CA346794022 rs1404429615 |
1647 | S>P | No |
ClinGen gnomAD |
|
|
CA346794009 rs1451759214 |
1649 | I>V | No |
ClinGen TOPMed |
|
|
CA46899499 rs1013476660 |
1651 | S>I | No |
ClinGen gnomAD |
|
|
rs1290851458 CA346793979 |
1653 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346793977 rs1324895603 |
1653 | A>V | No |
ClinGen gnomAD |
|
|
rs10201898 CA346793974 |
1654 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1128210 CA46899497 |
1656 | L>I | No |
ClinGen gnomAD |
|
|
CA346793959 rs1480683190 |
1656 | L>R | No |
ClinGen gnomAD |
|
|
rs1128210 CA346793963 |
1656 | L>V | No |
ClinGen gnomAD |
|
|
rs867956557 CA46899496 |
1658 | S>Y | No |
ClinGen Ensembl |
|
|
CA46899493 rs977850549 |
1661 | I>T | No |
ClinGen TOPMed |
|
|
rs537745880 CA46899494 |
1661 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs759552112 CA1632045 |
1662 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA1632042 rs746846053 |
1663 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1632043 rs770850120 |
1663 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346793915 rs1246993734 |
1664 | H>Y | No |
ClinGen TOPMed |
|
|
rs1224518822 CA346793907 |
1665 | M>L | No |
ClinGen gnomAD |
|
|
CA1632041 rs772904848 |
1665 | M>R | No |
ClinGen ExAC TOPMed |
|
|
rs1326207991 CA346793900 |
1666 | Q>E | No |
ClinGen gnomAD |
|
|
CA346793894 rs1281917436 |
1666 | Q>H | No |
ClinGen gnomAD |
|
|
rs17030648 VAR_054076 CA1632039 |
1668 | C>R | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA346793877 rs1384529633 |
1669 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1380703821 CA346793880 |
1669 | V>M | No |
ClinGen gnomAD |
|
|
rs771778704 CA1632023 |
1671 | N>K | No |
ClinGen ExAC gnomAD |
|
|
rs1327363729 CA346793835 |
1673 | E>V | No |
ClinGen TOPMed |
|
|
CA1632019 rs773944442 |
1674 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs768395074 CA1632018 |
1675 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs748860361 CA1632016 COSM3782205 |
1675 | I>M | pancreas [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed |
|
rs1035671562 CA46898873 |
1675 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
CA46898874 rs768395074 |
1675 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA346793822 rs1339241146 |
1676 | A>P | No |
ClinGen TOPMed |
|
|
rs750259984 CA1632014 |
1678 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779728801 CA1632015 |
1678 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA346793805 rs1338788849 |
1679 | L>M | No |
ClinGen gnomAD |
|
|
rs747472058 CA1632013 |
1681 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA346793781 rs1248381377 |
1682 | W>* | No |
ClinGen gnomAD |
|
|
rs778281864 CA1632012 |
1683 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346793757 rs528278609 |
1686 | V>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1632010 rs528278609 |
1686 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs765483431 CA1632009 |
1687 | I>L | No |
ClinGen ExAC gnomAD |
|
|
rs1369379639 CA346793743 |
1688 | L>W | No |
ClinGen gnomAD |
|
| TCGA novel | 1689 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1632007 rs754020271 |
1692 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA46898872 rs754020271 |
1692 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs766451280 CA1632006 |
1693 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs760749228 CA1632005 |
1694 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1180252488 CA346793696 |
1695 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs773079245 CA1632004 |
1695 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
COSM1408116 CA46898871 rs989473013 |
1696 | T>A | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
CA346793686 rs1224818565 |
1697 | E>G | No |
ClinGen gnomAD |
|
|
CA346793690 rs765010895 |
1697 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1632003 rs765010895 |
1697 | E>Q | Variant assessed as Somatic; 0.0002321 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA1632001 rs774170476 |
1698 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA1632002 rs761550054 |
1698 | S>P | No |
ClinGen ExAC gnomAD |
|
|
rs1351091338 CA346793675 |
1699 | R>M | No |
ClinGen gnomAD |
|
|
CA46898870 rs976926911 |
1699 | R>W | No |
ClinGen TOPMed |
|
|
CA346793672 rs1281120845 |
1700 | L>M | No |
ClinGen gnomAD |
|
|
rs1572917715 CA346793657 |
1702 | V>G | No |
ClinGen Ensembl |
|
|
rs372744844 CA1631998 |
1702 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1631995 rs778211793 |
1703 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1631996 rs369837115 |
1703 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346793652 rs1400976366 |
1704 | E>K | No |
ClinGen gnomAD |
|
|
CA346793644 rs1316669297 |
1705 | V>I | No |
ClinGen TOPMed |
|
|
rs1157221089 CA346793636 |
1706 | L>I | No |
ClinGen TOPMed gnomAD |
|
|
CA346793637 rs1157221089 |
1706 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs995226614 CA46898869 |
1709 | T>S | No |
ClinGen TOPMed |
|
|
CA346793609 rs1430630406 |
1710 | T>I | No |
ClinGen gnomAD |
|
|
rs772602244 CA1631994 |
1710 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1380705616 CA346793607 |
1711 | P>A | No |
ClinGen TOPMed |
|
|
rs748510527 CA1631993 |
1712 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346793593 rs1246244308 |
1713 | F>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1715 | T>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1394001668 CA346793576 |
1716 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
rs779272372 CA1631992 |
1716 | N>I | No |
ClinGen ExAC gnomAD |
|
|
rs755268690 CA1631991 |
1717 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs754071648 CA1631990 |
1717 | P>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA46898868 rs755268690 |
1717 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs780239835 CA46898867 |
1718 | H>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346793566 rs1283842766 |
1718 | H>P | No |
ClinGen gnomAD |
|
|
rs780239835 CA1631989 |
1718 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756212636 CA1631988 |
1721 | L>F | No |
ClinGen ExAC |
|
|
CA46897903 rs926085948 |
1722 | E>V | No |
ClinGen Ensembl |
|
|
rs866177805 CA46897902 |
1724 | Q>R | No |
ClinGen Ensembl |
|
|
CA46897901 rs760164939 |
1725 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs760164939 CA1631959 |
1725 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346793484 rs1417508231 |
1726 | T>S | No |
ClinGen TOPMed gnomAD |
|
|
rs768871800 CA46897900 |
1727 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs768871800 CA1631958 |
1727 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA1631956 rs771171430 |
1729 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769118323 CA1631957 |
1729 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs770010052 CA1631954 |
1730 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA1631953 rs747380193 COSM4141104 |
1732 | C>R | ovary [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1271925462 CA346793396 |
1733 | V>A | No |
ClinGen gnomAD |
|
|
CA1631952 rs781216564 |
1734 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346793379 rs1317529961 |
1735 | T>N | No |
ClinGen gnomAD |
|
|
rs757419411 CA346793370 |
1736 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757419411 CA1631951 |
1736 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA46897899 rs943075659 |
1738 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs910228018 CA46897898 |
1740 | E>D | No |
ClinGen gnomAD |
|
|
CA346793314 rs1352786686 |
1740 | E>G | No |
ClinGen gnomAD |
|
|
rs556968261 CA1631948 |
1740 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA1631947 rs112504846 |
1741 | E>K | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1387323877 CA346793271 |
1743 | A>V | No |
ClinGen gnomAD |
|
|
CA346793237 rs1421832057 |
1746 | D>G | No |
ClinGen gnomAD |
|
|
CA346793243 rs1161963500 |
1746 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1412855172 CA346793223 |
1747 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs765112085 CA1631946 |
1749 | T>M | No |
ClinGen ExAC gnomAD |
|
|
CA46897897 rs879225115 |
1750 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA46897896 rs879225115 |
1750 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA346793178 rs1572890575 |
1751 | T>P | No |
ClinGen Ensembl |
|
|
CA1631944 rs183860704 |
1752 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1572890538 CA346793149 |
1753 | T>K | No |
ClinGen Ensembl |
|
|
rs1490395307 CA346793156 |
1753 | T>P | No |
ClinGen gnomAD |
|
|
rs1572890523 CA346793147 |
1754 | T>P | No |
ClinGen Ensembl |
|
|
CA346793112 rs1252804607 |
1756 | M>I | No |
ClinGen TOPMed |
|
|
rs765942366 CA1631943 |
1756 | M>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA46897894 rs571457349 |
1757 | S>L | No |
ClinGen 1000Genomes |
|
|
rs1242206661 CA346793092 |
1758 | Q>K | No |
ClinGen gnomAD |
|
|
rs760216293 CA1631942 |
1759 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA46897893 rs1026221518 |
1760 | N>H | No |
ClinGen TOPMed gnomAD |
|
|
CA1631940 rs200217563 |
1761 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs1290803777 CA346793031 |
1762 | C>W | No |
ClinGen Ensembl |
|
|
rs766962838 CA1631939 |
1763 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
CA46897892 rs969026738 |
1764 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs763479058 CA346793003 |
1765 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs763479058 CA1631938 |
1765 | T>P | No |
ClinGen ExAC gnomAD |
|
|
rs187305048 CA346644200 |
1766 | E>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346792993 rs1375470304 |
1766 | E>K | No |
ClinGen gnomAD |
|
|
CA346644202 rs1403259324 |
1766 | E>V | No |
ClinGen TOPMed |
|
|
CA1631919 rs753309368 |
1768 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA1631918 rs765660952 |
1769 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346644160 rs747941151 |
1772 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs747941151 CA46412627 |
1772 | V>G | No |
ClinGen TOPMed gnomAD |
|
|
CA1631917 rs200346288 |
1772 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1254257706 CA346644157 |
1773 | D>N | No |
ClinGen gnomAD |
|
|
CA1631916 rs776839617 |
1774 | A>V | No |
ClinGen ExAC |
|
|
CA346644141 rs1232648132 |
1775 | S>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA1631915 rs370104439 |
1776 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs199949051 CA1631913 |
1777 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1319675976 CA346644113 |
1781 | A>T | No |
ClinGen gnomAD |
|
|
rs1209572543 CA346644108 |
1781 | A>V | No |
ClinGen TOPMed |
|
|
rs1481544790 CA346644102 |
1783 | A>T | No |
ClinGen TOPMed |
|
|
CA346644095 COSM1531914 rs201032063 |
1784 | V>F | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs201032063 CA1631908 |
1784 | V>I | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1465102437 CA346644067 |
1788 | L>P | No |
ClinGen gnomAD |
|
| TCGA novel | 1790 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA1631906 rs755836383 |
1791 | Q>E | No |
ClinGen ExAC gnomAD |
|
|
CA1631904 CA1631903 rs756831818 |
1794 | Q>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs750086155 CA1631905 |
1794 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1355797169 CA346644011 |
1796 | A>G | No |
ClinGen TOPMed |
|
|
CA1631902 rs527393662 |
1797 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 1798 | G>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA346644004 rs1200457296 |
1798 | G>R | No |
ClinGen gnomAD |
|
|
rs868598200 CA46412577 |
1798 | G>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1631901 rs765825863 |
1800 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759984808 CA1631900 |
1802 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759984808 CA346643980 |
1802 | L>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1631899 rs754331782 |
1805 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs796208256 CA46412564 |
1807 | L>F | No |
ClinGen gnomAD |
|
|
rs1218882447 CA346643942 |
1809 | E>K | No |
ClinGen TOPMed |
|
|
rs1218882447 CA346643941 |
1809 | E>Q | No |
ClinGen TOPMed |
|
| rs1558439485 | 1810 | S>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1042515153 CA46412558 |
1810 | S>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1042515153 CA346643933 |
1810 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA346643929 rs1558439454 |
1810 | S>R | No |
ClinGen Ensembl |
|
|
CA1631897 rs761064007 |
1810 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1309354603 CA346643927 |
1811 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1309354603 CA346643926 |
1811 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs773635027 CA1631896 |
1814 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1631894 rs761999372 |
1818 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs561923328 CA46412553 |
1818 | E>K | No |
ClinGen 1000Genomes TOPMed |
|
|
CA346643872 rs1572698562 |
1819 | S>N | No |
ClinGen Ensembl |
|
|
rs1367130749 CA346643869 |
1819 | S>R | No |
ClinGen gnomAD |
|
|
rs768738682 CA1631892 CA1631893 |
1820 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1186757968 CA346643866 |
1820 | M>V | No |
ClinGen TOPMed |
|
|
CA1631890 rs779905934 |
1821 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA1631891 rs749182808 |
1821 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1631889 rs769638629 |
1822 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
CA1631874 rs147386872 |
1825 | E>D | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA1631875 rs367999040 |
1825 | E>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346643812 rs1290136065 |
1826 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
rs936609942 CA46411792 |
1826 | D>N | No |
ClinGen TOPMed |
|
|
rs1349315208 CA346643797 |
1828 | L>P | No |
ClinGen gnomAD |
|
|
CA346643766 rs1572692409 |
1832 | A>V | No |
ClinGen Ensembl |
|
|
rs1283400954 CA346643763 |
1833 | E>K | No |
ClinGen gnomAD |
|
|
rs745714135 CA1631871 |
1834 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA346643750 rs1234982645 |
1835 | N>D | No |
ClinGen gnomAD |
|
|
CA1631869 rs746648119 |
1835 | N>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746648119 CA1631868 |
1835 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1631870 rs746648119 |
1835 | N>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1401647004 CA346643725 |
1838 | A>V | No |
ClinGen gnomAD |
|
|
CA1631867 rs777425957 |
1839 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747629819 CA1631865 |
1842 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs114651703 CA46411770 |
1842 | I>V | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
| TCGA novel | 1844 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs780755446 CA1631864 |
1845 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1246333935 CA346643680 |
1846 | Y>H | No |
ClinGen gnomAD |
|
|
CA46411753 rs1023479051 |
1849 | K>R | No |
ClinGen gnomAD |
|
|
rs756708495 CA1631862 |
1850 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1320651415 CA346643633 |
1852 | F>L | No |
ClinGen gnomAD |
|
|
rs371924063 CA1631861 |
1852 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368209318 CA1631860 |
1853 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA1631859 rs757581612 COSM419164 |
1856 | S>* | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs1220435974 CA346643588 |
1857 | K>* | No |
ClinGen gnomAD |
|
|
CA346643580 rs1342340372 |
1857 | K>M | No |
ClinGen TOPMed gnomAD |
|
|
rs751783656 CA1631858 |
1857 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA346643585 rs1220435974 |
1857 | K>Q | No |
ClinGen gnomAD |
|
|
rs542006140 CA346643564 |
1859 | G>C | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
rs542006140 CA1631855 |
1859 | G>S | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA1631854 rs775528670 |
1861 | R>C | No |
ClinGen ExAC gnomAD |
|
|
CA1631853 rs765254477 |
1861 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs765254477 CA346643538 |
1861 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346643527 rs1407491611 |
1862 | P>R | No |
ClinGen gnomAD |
|
|
CA346643524 rs1440724397 |
1863 | P>A | No |
ClinGen gnomAD |
|
|
CA1631852 rs191149396 |
1864 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA1631850 rs770646079 |
1867 | M>I | No |
ClinGen ExAC |
|
|
rs1168691746 CA346643476 |
1867 | M>T | No |
ClinGen gnomAD |
|
|
rs1451590035 CA346643468 |
1868 | L>V | No |
ClinGen gnomAD |
|
|
rs1464316904 CA346643450 |
1869 | C>* | No |
ClinGen gnomAD |
|
|
rs185993732 CA1631848 |
1869 | C>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA346643447 rs1237977574 COSM1193134 |
1870 | H>D | lung [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs904462656 CA46411709 |
1872 | Q>E | No |
ClinGen TOPMed gnomAD |
|
|
rs772779173 CA1631847 |
1873 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1177401090 CA346643409 |
1873 | R>S | No |
ClinGen TOPMed |
|
|
rs1228630653 CA346643371 |
1877 | E>G | No |
ClinGen gnomAD |
|
|
rs907921774 CA46411704 |
1878 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA346643338 rs1572691685 |
1880 | H>P | No |
ClinGen Ensembl |
|
|
rs1558436066 CA346643330 |
1881 | L>F | No |
ClinGen Ensembl |
|
|
rs1228108356 CA346643310 |
1883 | S>F | No |
ClinGen gnomAD |
|
|
COSM419165 rs984749651 CA46411694 |
1884 | Q>* | Variant assessed as Somatic; impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA346643305 rs984749651 |
1884 | Q>E | No |
ClinGen TOPMed |
|
|
rs747751959 CA1631844 |
1884 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA46411683 rs888835455 |
1885 | F>L | No |
ClinGen TOPMed |
|
|
rs1007243861 CA46411686 |
1885 | F>S | No |
ClinGen Ensembl |
|
|
rs1296731580 CA346643271 |
1886 | F>L | No |
ClinGen TOPMed |
|
|
CA346643264 rs1476526284 |
1887 | R>T | No |
ClinGen gnomAD |
|
|
CA46411674 rs1051950887 |
1888 | E>K | No |
ClinGen Ensembl |
|
|
CA1631841 rs768211032 |
1890 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs1388534328 CA346643230 |
1891 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
CA346643228 rs1388534328 |
1891 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA346643220 rs1168265774 |
1892 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs781712047 CA1631839 |
1894 | E>G | No |
ClinGen ExAC |
|
|
CA346643187 rs1275076097 |
1895 | F>C | No |
ClinGen TOPMed |
|
|
rs933120912 CA346643193 |
1895 | F>I | No |
ClinGen TOPMed gnomAD |
|
|
CA46411670 rs933120912 |
1895 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA346643146 rs1482252754 |
1899 | V>M | No |
ClinGen gnomAD |
|
|
CA346643111 rs1201973154 |
1902 | T>R | No |
ClinGen TOPMed |
|
|
rs751924524 CA1631837 |
1903 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777910643 CA1631836 |
1904 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346643095 rs1488616899 |
1904 | L>V | No |
ClinGen TOPMed |
|
|
CA1631835 rs199996414 |
1905 | R>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752879015 CA1631834 |
1905 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346643087 rs752879015 |
1905 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs996809928 CA46411649 |
1906 | I>T | No |
ClinGen TOPMed |
|
|
CA346643082 rs1315302202 |
1906 | I>V | No |
ClinGen gnomAD |
|
|
rs1215312845 CA346643070 |
1907 | Q>E | No |
ClinGen gnomAD |
|
|
rs1227067605 CA346643060 |
1907 | Q>H | No |
ClinGen gnomAD |
|
|
CA1631833 rs765307257 |
1908 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs371018924 CA1631832 |
1912 | L>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346642996 rs1354103529 |
1914 | C>R | No |
ClinGen TOPMed |
|
|
rs1307628045 CA346642945 |
1919 | A>D | No |
ClinGen gnomAD |
|
|
CA346642949 rs1458629327 |
1919 | A>T | No |
ClinGen TOPMed |
|
|
CA46411642 rs940254506 |
1921 | L>F | No |
ClinGen Ensembl |
|
|
CA1631831 rs367792595 |
1921 | L>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs760436314 CA1631829 |
1922 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
rs773081785 CA1631828 |
1924 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs761560762 CA1631826 |
1925 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs201598481 CA1631827 |
1925 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA346642879 rs1572691078 |
1926 | G>E | No |
ClinGen Ensembl |
|
|
rs774086395 CA1631825 COSM1726386 |
1926 | G>R | liver [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs748798993 CA1631823 |
1927 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA1631824 rs768337527 |
1927 | E>G | No |
ClinGen ExAC |
|
|
CA346642876 rs1473269879 |
1927 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1473269879 CA346642874 |
1927 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs781593026 CA1631822 |
1928 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs1008002642 CA46411624 |
1930 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
CA1631819 rs747427140 |
1931 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs771450302 CA1631821 |
1931 | V>I | No |
ClinGen ExAC |
|
|
CA1631818 rs778234484 |
1933 | S>N | No |
ClinGen ExAC TOPMed |
|
|
CA1631816 rs370796162 |
1937 | S>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA346642754 rs1369397842 |
1938 | Y>* | No |
ClinGen TOPMed gnomAD |
|
|
rs755119430 CA1631813 |
1939 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1419252151 CA346642741 |
1940 | E>Q | No |
ClinGen TOPMed |
|
|
rs753930206 CA1631812 COSM1020986 |
1941 | S>L | endometrium [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
rs1437845083 CA346642726 |
1941 | S>P | No |
ClinGen TOPMed gnomAD |
|
|
rs371002579 CA1631811 |
1943 | Q>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1327285931 CA346642683 |
1945 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1456195950 CA346642673 |
1947 | P>R | No |
ClinGen gnomAD |
|
|
rs779072355 CA346642660 |
1949 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779072355 CA1631809 |
1949 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779072355 CA1631810 |
1949 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA346642659 rs1159785897 |
1950 | E>K | No |
ClinGen gnomAD |
|
|
CA346642648 rs114015985 |
1951 | A>E | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
COSM1196222 CA1631807 rs114015985 |
1951 | A>G | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD |
|
CA1631808 COSM1020985 rs114015985 |
1951 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs768388851 CA1631804 |
1953 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA346642635 rs762604546 |
1953 | C>W | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q6YHU6
1 GO annotations of cellular component
| Name | Definition |
|---|---|
| cytoplasmic side of endoplasmic reticulum membrane | The side (leaflet) of the plasma membrane that faces the cytoplasm. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
5 GO annotations of biological process
| Name | Definition |
|---|---|
| adaptive thermogenesis | The regulated production of heat in response to short term environmental changes, such as stress, diet or reduced temperature. |
| lipid homeostasis | Any process involved in the maintenance of an internal steady state of lipid within an organism or cell. |
| negative regulation of ATPase-coupled calcium transmembrane transporter activity | Any process that stops, prevents or reduces the frequency, rate or extent of an ATPase-coupled calcium transmembrane transporter activity. |
| negative regulation of endoplasmic reticulum calcium ion concentration | Any process that decreases the concentration of calcium ions in the endoplasmic reticulum. |
| tRNA methylation | The posttranscriptional addition of methyl groups to specific residues in a tRNA molecule. |
No homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| No homologous proteins | ||||
| 10 | 20 | 30 | 40 | 50 | 60 |
| MGVKKKKEMQ | VAALTICHQD | LETLKSFADV | EGKNLASLLL | HCVQLTDGVS | QIHYIKQIVP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LLEKADKNGM | CDPTIQSCLD | ILAGIYLSLS | LKNPLKKVLA | SSLNSLPDFF | LPEAMHRFTS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| RLQEELNTTD | LYSYRKVTDN | ISSCMENFNL | GRASVNNLLK | NVLHFLQKSL | IEILEENRKC |
| 190 | 200 | 210 | 220 | 230 | 240 |
| AGNHIIQTQL | MNDLLVGIRV | SMMLVQKVQD | FQGNLWKTSD | SPIWQNMCGL | LSIFTKVLSD |
| 250 | 260 | 270 | 280 | 290 | 300 |
| DDLLQTVQST | SGLAIILFIK | TMFHPSEKIP | HLISSVLLRS | VDCTSVPEWF | MSSCRSLCCG |
| 310 | 320 | 330 | 340 | 350 | 360 |
| DISQSAVLFL | CQGTLAMLDW | QNGSMGRSGE | ALLLDTAHVL | FTLSSQIKEP | TLEMFLSRIL |
| 370 | 380 | 390 | 400 | 410 | 420 |
| ASWTNSAIQV | LESSSPSLTD | SLNGNSSIVG | RLLEYVYTHW | EHPLDALRHQ | TKIMFKNLLQ |
| 430 | 440 | 450 | 460 | 470 | 480 |
| MHRLTVEGAD | FVPDPFFVEL | TESLLRLEWH | IKGKYTCLGC | LVECIGVEHI | LAIDKTIPSQ |
| 490 | 500 | 510 | 520 | 530 | 540 |
| ILEVMGDQSL | VPYASDLLET | MFRNHKSHLK | SQTAESSWID | QWHETWVSPL | LFILCEGNLD |
| 550 | 560 | 570 | 580 | 590 | 600 |
| QKSYVIDYYL | PKLLSYSPES | LQYMVKILQT | SIDAKTGQEQ | SFPSLGSCNS | RGALGALMAC |
| 610 | 620 | 630 | 640 | 650 | 660 |
| LRIARAHGHL | QSATDTWENL | VSDARIKQGL | IHQHCQVRID | TLGLLCESNR | STEIVSMEEM |
| 670 | 680 | 690 | 700 | 710 | 720 |
| QWIQFFITYN | LNSQSPGVRQ | QICSLLKKLF | CRIQESSQVL | YKLEQSKSKR | EPENELTKQH |
| 730 | 740 | 750 | 760 | 770 | 780 |
| PSVSLQQYKN | FMSSICNSLF | EALFPGSSYS | TRFSALTILG | SIAEVFHVPE | GRIYTVYQLS |
| 790 | 800 | 810 | 820 | 830 | 840 |
| HDIDVGRFQT | LMECFTSTFE | DVKILAFDLL | MKLSKTAVHF | QDSGKLQGLF | QAALELSTST |
| 850 | 860 | 870 | 880 | 890 | 900 |
| KPYDCVTASY | LLNFLIWQDA | LPSSLSAYLT | QQVACDNGDR | PAAVVERNTL | MVIKCLMENL |
| 910 | 920 | 930 | 940 | 950 | 960 |
| EEEVSQAENS | LLQAAAAFPM | YGRVHCITGA | LQKLSLNSLQ | LVSEWRPVVE | KLLLMSYRLS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| TVVSPVIQSS | SPEGLIPMDT | DSESASRLQM | ILNEIQPRDT | NDYFNQAKIL | KEHDSFDMKD |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| LNASVVNIDT | STEIKGKEVK | TCDVTAQMVL | VCCWRSMKEV | ALLLGMLCQL | LPMQPVPESS |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| DGLLTVEQVK | EIGDYFKQHL | LQSRHRGAFE | LAYTGFVKLT | EVLNRCPNVS | LQKLPEQWLW |
| 1150 | 1160 | 1170 | 1180 | 1190 | 1200 |
| SVLEEIKCSD | PSSKLCATRR | SAGIPFYIQA | LLASEPKKGR | MDLLKITMKE | LISLAGPTDD |
| 1210 | 1220 | 1230 | 1240 | 1250 | 1260 |
| IQSTVPQVHA | LNILRALFRD | TRLGENIIPY | VADGAKAAIL | GFTSPVWAVR | NSSTLLFSAL |
| 1270 | 1280 | 1290 | 1300 | 1310 | 1320 |
| ITRIFGVKRA | KDEHSKTNRM | TGREFFSRFP | ELYPFLLKQL | ETVANTVDSD | MGEPNRHPSM |
| 1330 | 1340 | 1350 | 1360 | 1370 | 1380 |
| FLLLLVLERL | YASPMDGTSS | ALSMGPFVPF | IMRCGHSPVY | HSREMAARAL | VPFVMIDHIP |
| 1390 | 1400 | 1410 | 1420 | 1430 | 1440 |
| NTIRTLLSTL | PSCTDQCFRQ | NHIHGTLLQV | FHLLQAYSDS | KHGTNSDFQH | ELTDITVCTK |
| 1450 | 1460 | 1470 | 1480 | 1490 | 1500 |
| AKLWLAKRQN | PCLVTRAVYI | DILFLLTCCL | NRSAKDNQPV | LESLGFWEEV | RGIISGSELI |
| 1510 | 1520 | 1530 | 1540 | 1550 | 1560 |
| TGFPWAFKVP | GLPQYLQSLT | RLAIAAVWAA | AAKSGERETN | VPISFSQLLE | SAFPEVRSLT |
| 1570 | 1580 | 1590 | 1600 | 1610 | 1620 |
| LEALLEKFLA | AASGLGEKGV | PPLLCNMGEK | FLLLAMKENH | PECFCKILKI | LHCMDPGEWL |
| 1630 | 1640 | 1650 | 1660 | 1670 | 1680 |
| PQTEHCVHLT | PKEFLIWTMD | IASNERSEIQ | SVALRLASKV | ISHHMQTCVE | NRELIAAELK |
| 1690 | 1700 | 1710 | 1720 | 1730 | 1740 |
| QWVQLVILSC | EDHLPTESRL | AVVEVLTSTT | PLFLTNPHPI | LELQDTLALW | KCVLTLLQSE |
| 1750 | 1760 | 1770 | 1780 | 1790 | 1800 |
| EQAVRDAATE | TVTTAMSQEN | TCQSTEFAFC | QVDASIALAL | ALAVLCDLLQ | QWDQLAPGLP |
| 1810 | 1820 | 1830 | 1840 | 1850 | 1860 |
| ILLGWLLGES | DDLVACVESM | HQVEEDYLFE | KAEVNFWAET | LIFVKYLCKH | LFCLLSKSGW |
| 1870 | 1880 | 1890 | 1900 | 1910 | 1920 |
| RPPSPEMLCH | LQRMVSEQCH | LLSQFFRELP | PAAEFVKTVE | FTRLRIQEER | TLACLRLLAF |
| 1930 | 1940 | 1950 | |||
| LEGKEGEDTL | VLSVWDSYAE | SRQLTLPRTE | AAC |