Q96QH2
PR
Gene name |
PRAM1 |
Protein name |
PML-RARA-regulated adapter molecule 1 |
Names |
PRAM, PRAM-1 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:84106 |
EC number |
|
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
1 structures for Q96QH2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q96QH2-F1 | Predicted | AlphaFoldDB |
769 variants for Q96QH2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
rs1364315758 CA403747241 |
2 | A>S | No |
ClinGen gnomAD |
|
|
CA403747225 rs1392416231 |
3 | H>L | No |
ClinGen gnomAD |
|
|
CA403747233 rs747809881 |
3 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA403747227 rs1392416231 |
3 | H>R | No |
ClinGen gnomAD |
|
|
CA9158244 rs747809881 |
3 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA403747215 rs1166927841 |
4 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1190751499 CA403746929 |
6 | P>L | No |
ClinGen gnomAD |
|
|
rs780743679 CA305006346 |
6 | P>S | No |
ClinGen ExAC |
|
|
rs780743679 CA9158243 |
6 | P>T | No |
ClinGen ExAC |
|
|
rs1261968178 CA403746920 |
7 | A>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9158242 rs754509684 |
7 | A>T | No |
ClinGen ExAC |
|
|
rs1261968178 CA403746923 |
7 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA403746911 rs1254334052 |
8 | A>D | No |
ClinGen gnomAD |
|
|
CA403746914 rs1466717169 |
8 | A>S | No |
ClinGen gnomAD |
|
|
CA9158241 rs751092228 |
9 | M>V | No |
ClinGen ExAC |
|
|
rs760749254 CA9158232 |
10 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158230 rs577816974 |
11 | S>N | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA305005598 rs940215579 |
13 | Q>E | No |
ClinGen TOPMed |
|
|
rs185321110 CA9158228 |
15 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403746783 rs747964549 |
16 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs534829677 CA9158224 |
16 | R>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9158225 rs534829677 |
16 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA9158226 rs747964549 |
16 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs987470990 CA305005585 |
17 | S>N | No |
ClinGen TOPMed |
|
|
CA305005580 rs921272688 |
21 | K>Q | No |
ClinGen TOPMed |
|
|
CA305005576 rs545518329 |
22 | F>L | No |
ClinGen Ensembl |
|
|
rs1330359517 CA403746726 |
24 | A>V | No |
ClinGen TOPMed |
|
|
rs370417724 CA9158221 |
25 | S>C | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9158219 rs367747523 |
27 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9158220 rs750944789 |
27 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1421385286 CA403746707 |
28 | E>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754166421 CA9158217 |
28 | E>V | No |
ClinGen ExAC gnomAD |
|
|
rs760836189 CA9158215 |
29 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158216 rs370079604 |
29 | P>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs752721608 CA9158214 |
30 | S>G | No |
ClinGen ExAC |
|
|
rs767559785 CA403746691 |
30 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773125188 CA9158211 |
31 | D>G | No |
ClinGen ExAC |
|
|
CA305005560 rs376535244 |
31 | D>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs376535244 CA9158212 |
31 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1349960361 CA403746682 |
32 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
TCGA novel rs569843461 CA9158210 |
35 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA |
|
rs1241341425 CA403746658 |
36 | P>S | No |
ClinGen gnomAD |
|
|
CA9158209 rs761614956 |
37 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403746653 rs1451399638 |
37 | P>T | No |
ClinGen TOPMed |
|
|
CA403746643 rs1477154016 |
38 | K>N | No |
ClinGen TOPMed |
|
|
CA9158207 rs768317514 |
38 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs368782291 CA403746635 |
40 | E>K | No |
ClinGen TOPMed |
|
|
rs368782291 CA305005549 |
40 | E>Q | No |
ClinGen TOPMed |
|
|
CA403746594 rs117729791 |
45 | K>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs745428159 CA9158204 |
46 | K>* | No |
ClinGen ExAC gnomAD |
|
|
rs745428159 CA9158203 |
46 | K>E | No |
ClinGen ExAC gnomAD |
|
|
rs1382401623 CA403746590 |
46 | K>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403746560 rs1599883824 |
49 | Q>E | No |
ClinGen Ensembl |
|
|
CA403746536 rs1389478565 |
50 | P>R | No |
ClinGen TOPMed |
|
|
CA9158202 rs779417917 |
50 | P>S | No |
ClinGen ExAC gnomAD |
|
|
rs201098926 CA403746497 |
53 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1325338903 CA403746508 |
53 | S>R | No |
ClinGen TOPMed |
|
|
CA305005535 rs527760943 |
54 | E>D | No |
ClinGen 1000Genomes |
|
|
rs547450112 CA9158198 |
54 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9158199 rs547450112 |
54 | E>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9158196 rs767790595 |
55 | H>N | No |
ClinGen ExAC gnomAD |
|
|
CA305005531 rs904908573 |
55 | H>R | No |
ClinGen Ensembl |
|
|
rs767790595 CA9158197 |
55 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA9158195 rs759603012 |
56 | P>L | No |
ClinGen ExAC gnomAD |
|
|
VAR_029808 rs4804305 CA9158194 |
57 | K>Q | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs1446620904 CA403746433 |
58 | K>N | No |
ClinGen gnomAD |
|
|
rs55837738 CA305005529 |
59 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs55837738 CA9158193 |
59 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158192 rs761689213 |
59 | A>V | No |
ClinGen ExAC TOPMed |
|
|
rs199916444 CA9158190 |
60 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA305005523 rs940495598 |
60 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
CA305005516 rs55895504 |
61 | L>P | No |
ClinGen TOPMed |
|
|
CA403746405 rs55895504 |
61 | L>Q | No |
ClinGen TOPMed |
|
|
rs1264455183 CA403746385 |
63 | E>Q | No |
ClinGen TOPMed |
|
|
CA403746370 rs866917327 |
64 | F>L | No |
ClinGen TOPMed |
|
|
CA305005513 rs866917327 |
64 | F>V | No |
ClinGen TOPMed |
|
|
rs775277109 CA9158188 |
66 | A>E | No |
ClinGen ExAC TOPMed |
|
|
CA403746307 rs865803530 |
69 | L>* | No |
ClinGen TOPMed gnomAD |
|
|
rs745309046 CA403746310 |
69 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305005503 rs865803530 |
69 | L>S | No |
ClinGen TOPMed gnomAD |
|
|
rs952769700 CA403746274 |
71 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA305005500 rs952769700 |
71 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
CA305005497 rs201944123 |
72 | P>L | No |
ClinGen TOPMed |
|
|
rs1599883676 CA403746268 |
72 | P>S | No |
ClinGen Ensembl |
|
|
rs1555714803 CA920052479 |
73 | P>AASVH* | No |
ClinGen Ensembl |
|
|
CA305005483 rs4239541 |
73 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
VAR_029809 rs4239541 CA9158184 RCV000949046 |
73 | P>Q | No |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs4990821 CA403746235 |
75 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs4990821 RCV000949045 CA9158182 |
75 | E>Q | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA9158180 rs4239540 RCV000949044 VAR_029810 |
76 | V>F | No |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP |
|
|
rs4239540 CA403746222 |
76 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed |
|
|
CA9158179 rs778381716 |
77 | T>A | No |
ClinGen ExAC |
|
|
rs1487108552 CA403746207 |
77 | T>N | No |
ClinGen TOPMed |
|
|
CA403746195 rs1389425141 |
78 | D>A | No |
ClinGen gnomAD |
|
|
rs1010159445 CA403746152 COSM2730455 |
83 | P>A | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
rs1010159445 CA305005454 |
83 | P>S | No |
ClinGen TOPMed |
|
|
rs1254956246 CA403746135 |
84 | P>L | No |
ClinGen TOPMed |
|
|
COSM2730454 rs956930818 CA305005447 |
85 | P>L | upper_aerodigestive_tract [Cosmic] | No |
ClinGen cosmic curated TOPMed |
|
CA403746125 rs956930818 |
85 | P>Q | No |
ClinGen TOPMed |
|
|
rs1195646299 CA403746110 |
86 | P>L | No |
ClinGen gnomAD |
|
|
rs1447592047 CA403746104 |
87 | E>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs879354850 CA9158172 |
88 | V>F | No |
ClinGen TOPMed |
|
|
CA9158168 rs748565219 |
89 | T>S | No |
ClinGen ExAC |
|
|
rs1599883508 CA403746064 |
90 | D>A | No |
ClinGen Ensembl |
|
|
rs1336852361 CA403746050 |
91 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA305005433 rs202084886 |
95 | P>A | No |
ClinGen gnomAD |
|
|
CA403745995 rs1213748537 |
95 | P>L | No |
ClinGen gnomAD |
|
|
rs202084886 CA403746000 |
95 | P>S | No |
ClinGen gnomAD |
|
|
rs781338763 CA9158165 |
96 | P>L | No |
ClinGen ExAC TOPMed |
|
|
CA305005427 rs200547271 COSM290016 |
97 | P>L | lung Variant assessed as Somatic; 0.0 impact. large_intestine [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA403745978 rs200547271 |
97 | P>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA9158163 rs751602709 |
97 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs180944065 CA403745960 |
99 | E>K | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA305005421 rs180944065 |
99 | E>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA305005417 rs189361135 |
100 | V>F | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA9158157 rs758557000 |
100 | V>G | No |
ClinGen ExAC |
|
|
CA305005411 rs199932369 |
101 | T>S | No |
ClinGen Ensembl |
|
|
CA305005400 rs2967596 |
102 | D>E | No |
ClinGen ExAC |
|
|
rs764160538 CA9158154 |
102 | D>H | No |
ClinGen ExAC |
|
|
rs201760294 CA305005404 |
102 | D>V | No |
ClinGen Ensembl |
|
|
rs775428414 CA403745377 |
103 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs775428414 CA9158151 |
103 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs759282595 CA9158148 |
104 | P>A | No |
ClinGen ExAC |
|
|
CA9158147 rs770313131 |
104 | P>H | No |
ClinGen ExAC TOPMed |
|
|
CA9158146 rs770313131 |
104 | P>L | No |
ClinGen ExAC TOPMed |
|
|
rs748891639 CA9158142 |
105 | K>R | No |
ClinGen ExAC TOPMed |
|
|
CA9158137 rs748448716 |
106 | K>N | No |
ClinGen ExAC |
|
|
rs773576177 CA9158140 |
106 | K>Q | No |
ClinGen ExAC |
|
|
rs1483294668 CA403745321 |
107 | P>L | No |
ClinGen TOPMed |
|
|
rs200799156 CA9158134 |
107 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1475784404 CA403745308 |
108 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA9158132 rs755147975 |
108 | P>T | No |
ClinGen ExAC |
|
|
rs780365982 CA9158129 |
109 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs878944379 CA305005364 |
110 | P>L | No |
ClinGen Ensembl |
|
|
rs867232175 CA305005352 |
112 | V>F | No |
ClinGen Ensembl |
|
|
CA305005348 rs112277136 |
113 | T>S | No |
ClinGen Ensembl |
|
|
CA403745223 rs1378062947 |
115 | L>H | No |
ClinGen TOPMed |
|
|
rs756152085 CA9158122 |
115 | L>I | No |
ClinGen ExAC TOPMed |
|
|
rs756152085 CA305005343 |
115 | L>V | No |
ClinGen ExAC TOPMed |
|
| TCGA novel | 118 | K>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9158120 rs199515679 |
119 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403745164 rs1191797610 |
120 | S>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs773868597 CA9158118 |
122 | L>M | No |
ClinGen ExAC TOPMed |
|
|
CA403745108 rs762308315 |
124 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA305005333 rs770419761 |
124 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1301226182 CA403745082 |
126 | D>G | No |
ClinGen TOPMed |
|
|
rs1435796091 CA403745074 |
127 | L>I | No |
ClinGen gnomAD |
|
|
CA403745045 rs1313251614 |
129 | K>R | No |
ClinGen TOPMed |
|
|
rs772786529 CA9158115 |
130 | K>E | No |
ClinGen ExAC |
|
|
rs1274872499 CA403745033 |
130 | K>N | No |
ClinGen gnomAD |
|
|
rs946730104 CA305005325 |
132 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM1003547 rs1346695383 CA403745016 |
133 | Q>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
| TCGA novel | 133 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1300852772 CA403745013 |
133 | Q>L | No |
ClinGen gnomAD |
|
|
VAR_061692 rs58466313 CA9158114 |
135 | G>E | No |
ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA403745004 rs1371136158 |
135 | G>R | No |
ClinGen gnomAD |
|
|
rs1234194351 CA9158110 |
136 | A>G | No |
ClinGen TOPMed |
|
|
CA403745000 rs777174312 |
136 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs777174312 CA403744999 |
136 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs777174312 CA9158112 |
136 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1430847244 CA403744995 |
137 | T>A | No |
ClinGen TOPMed gnomAD |
|
|
rs569934245 COSM1003546 CA9158109 |
138 | P>L | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs569934245 CA9158108 |
138 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403744984 rs1481405387 |
139 | F>L | No |
ClinGen TOPMed |
|
|
CA403744972 rs1172031320 |
141 | R>G | No |
ClinGen gnomAD |
|
|
rs772353502 CA9158106 |
141 | R>K | No |
ClinGen ExAC gnomAD |
|
|
rs772353502 CA9158107 |
141 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA9158105 rs745894616 |
142 | K>N | No |
ClinGen ExAC gnomAD |
|
|
rs757459676 CA9158103 |
143 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs867480130 CA305005309 |
143 | P>L | No |
ClinGen Ensembl |
|
|
CA9158104 rs757459676 |
143 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA403744954 rs1168410634 |
144 | L>P | No |
ClinGen TOPMed |
|
|
rs781342267 CA9158101 |
148 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs781342267 CA403744926 |
148 | V>G | No |
ClinGen ExAC gnomAD |
|
|
CA305005297 COSM1397775 rs909084826 |
149 | G>S | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA9158100 rs754712191 |
150 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403744913 rs1226084380 |
151 | A>T | No |
ClinGen gnomAD |
|
|
CA9158099 rs751379944 |
151 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765883963 CA9158098 |
152 | P>A | No |
ClinGen ExAC gnomAD |
|
|
CA403744905 rs1221643830 |
152 | P>R | No |
ClinGen gnomAD |
|
| TCGA novel | 152 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9158097 rs762701878 |
153 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403744887 rs1407374604 |
155 | A>P | No |
ClinGen TOPMed |
|
|
rs1407374604 CA403744889 |
155 | A>S | No |
ClinGen TOPMed |
|
|
rs1407374604 CA403744888 |
155 | A>T | No |
ClinGen TOPMed |
|
|
rs749889447 CA9158096 |
156 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403744883 rs1410771228 |
156 | S>T | No |
ClinGen gnomAD |
|
|
rs777121047 CA9158093 |
158 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777121047 CA403744871 |
158 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761354770 CA9158094 |
158 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1399066127 CA403744854 |
161 | G>R | No |
ClinGen gnomAD |
|
|
rs775954405 CA9158089 |
162 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9158087 rs746078484 |
163 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1014602389 CA305005271 |
164 | A>G | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA403744834 rs771127522 |
165 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs890246858 CA305005266 |
165 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
COSM3743208 CA305005268 rs890246858 |
165 | R>Q | Variant assessed as Somatic; 0.0 impact. liver [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA9158085 rs771127522 |
165 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213012062 CA403744821 |
167 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs1213012062 CA403744819 |
167 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1164346225 CA403744822 |
167 | P>S | No |
ClinGen TOPMed |
|
|
CA9158081 rs754945095 |
170 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158083 rs781213839 |
170 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158082 rs781213839 |
170 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750049106 CA9158077 |
171 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750049106 CA9158078 |
171 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1417078219 CA403744795 |
172 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9158074 rs753359807 |
173 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs116858681 CA9158073 |
174 | S>C | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs957160843 CA305005261 |
174 | S>I | No |
ClinGen TOPMed |
|
|
rs957160843 CA403744780 |
174 | S>N | No |
ClinGen TOPMed |
|
|
CA9158072 rs761265579 |
174 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158071 rs775910153 |
175 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403744776 rs1214129435 |
175 | H>Y | No |
ClinGen TOPMed |
|
|
rs530838486 CA9158070 |
176 | P>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1568317659 CA403744764 |
177 | A>S | No |
ClinGen Ensembl |
|
|
CA403744756 rs1166788736 |
178 | R>K | No |
ClinGen gnomAD |
|
|
rs749310474 CA9158065 |
179 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9158062 rs528107208 |
180 | P>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs200841911 CA9158060 |
180 | P>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA305005245 rs200841911 |
180 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9158059 rs200841911 |
180 | P>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9158061 rs528107208 |
180 | P>S | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs528107208 CA9158063 |
180 | P>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM221851 CA403744744 rs1334760932 |
181 | S>F | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA9158057 rs756907789 |
181 | S>T | No |
ClinGen ExAC |
|
|
rs1235497154 CA403744742 |
182 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs755617460 CA9158054 |
183 | P>H | No |
ClinGen ExAC gnomAD |
|
|
rs753242175 CA9158053 |
184 | K>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1213045373 CA403744728 |
184 | K>T | No |
ClinGen TOPMed gnomAD |
|
|
CA403744719 rs1364427949 |
185 | S>C | No |
ClinGen gnomAD |
|
|
rs1392173881 CA403744715 |
186 | G>D | No |
ClinGen gnomAD |
|
|
CA9158051 rs759920676 |
186 | G>S | No |
ClinGen ExAC gnomAD |
|
|
rs1458186656 CA403744710 |
187 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403744707 rs1599882822 |
187 | A>V | No |
ClinGen Ensembl |
|
|
CA403744700 rs1372292565 |
188 | F>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403744695 rs1167806941 |
189 | P>L | No |
ClinGen gnomAD |
|
|
CA9158049 rs766664322 |
190 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403744659 rs1225455667 |
194 | Q>R | No |
ClinGen TOPMed |
|
|
rs763294487 CA9158047 |
195 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1251620026 CA403744652 |
195 | P>R | No |
ClinGen gnomAD |
|
|
CA403744654 rs763294487 |
195 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs773359719 CA9158046 |
196 | E>K | No |
ClinGen ExAC gnomAD |
|
|
COSM4154428 CA9158043 rs563214438 |
198 | G>S | kidney [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
CA305005227 rs1004545103 |
200 | A>G | No |
ClinGen TOPMed gnomAD |
|
|
rs771919560 CA9158042 |
201 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs745595691 CA9158041 |
201 | T>I | No |
ClinGen ExAC gnomAD |
|
|
COSM715616 CA9158040 rs778712025 |
202 | P>L | lung [Cosmic] | No |
ClinGen cosmic curated ExAC TOPMed gnomAD |
|
CA403744612 rs778712025 |
202 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757091729 CA403744607 |
203 | R>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757091729 CA9158039 |
203 | R>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403744602 rs1599882741 |
204 | S>A | No |
ClinGen Ensembl |
|
|
rs1395756876 CA403744599 |
204 | S>F | No |
ClinGen TOPMed gnomAD |
|
|
CA305005219 rs374381822 |
205 | P>L | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs1463930197 CA403744597 |
205 | P>S | No |
ClinGen gnomAD |
|
|
CA305005216 rs377605050 |
206 | Q>K | No |
ClinGen ESP |
|
|
CA9158036 rs368832868 |
207 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403744578 rs1039847318 |
208 | E>A | No |
ClinGen gnomAD |
|
|
CA305005209 rs1039847318 |
208 | E>G | No |
ClinGen gnomAD |
|
|
rs1396379199 COSM1003545 CA403744580 |
208 | E>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA403744566 rs1330256212 |
210 | S>G | No |
ClinGen TOPMed |
|
|
rs781673726 CA9158034 |
210 | S>N | No |
ClinGen ExAC gnomAD |
|
|
rs944119968 CA305005205 |
211 | T>A | No |
ClinGen gnomAD |
|
|
rs1484254773 CA403744558 |
211 | T>N | No |
ClinGen gnomAD |
|
|
CA403744542 rs1275574716 |
213 | P>L | No |
ClinGen gnomAD |
|
|
rs1210445735 CA403744537 |
214 | K>R | No |
ClinGen gnomAD |
|
|
rs755571156 CA9158032 |
216 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403744517 rs1234140071 |
217 | A>E | No |
ClinGen gnomAD |
|
|
rs751926877 CA9158031 |
217 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA403744516 rs1234140071 |
217 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9158029 rs763455103 |
219 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9158030 rs766830807 |
219 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9158028 rs750657864 |
220 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA403744477 rs1266334718 |
223 | V>E | No |
ClinGen gnomAD |
|
|
CA9158027 rs765435888 |
223 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403744471 rs1224018800 |
224 | Y>C | No |
ClinGen TOPMed |
|
|
rs1311824865 CA403744474 |
224 | Y>H | No |
ClinGen gnomAD |
|
|
CA9158024 rs771958277 |
226 | K>R | No |
ClinGen ExAC gnomAD |
|
|
CA9158022 rs377325902 |
228 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9158021 rs199705772 |
229 | P>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9158017 rs769331971 |
230 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs201237549 CA9158019 |
230 | Q>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9158018 rs201237549 |
230 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9158016 rs200185915 |
231 | P>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs544551771 CA9158014 COSM1397773 |
234 | G>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA9158013 rs752084200 |
234 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403744404 rs1230153329 |
235 | G>D | No |
ClinGen gnomAD |
|
|
CA9158011 rs369494902 |
235 | G>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9158010 rs750766959 |
236 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs201771866 CA9158008 |
238 | K>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 238 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9158007 rs753907476 |
238 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267605774 CA305005172 |
240 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9158006 rs764126877 |
240 | S>T | No |
ClinGen ExAC gnomAD |
|
|
CA9158002 rs762738576 |
241 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA9158004 rs201168055 |
241 | V>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs201168055 CA9158003 |
241 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1046488708 CA305005154 |
242 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1321401881 CA403744371 |
242 | P>T | No |
ClinGen TOPMed |
|
|
rs1474459125 CA403744353 |
244 | P>L | No |
ClinGen gnomAD |
|
|
CA305005150 rs769435843 |
245 | E>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs769435843 CA9158000 |
245 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs747737089 CA9157999 |
246 | F>Y | No |
ClinGen ExAC gnomAD |
|
|
rs768282181 COSM1305327 CA9157997 |
248 | E>K | Variant assessed as Somatic; 0.0 impact. urinary_tract [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs746579251 CA9157996 |
249 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs758979158 CA9157994 |
251 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
CA403744309 rs1358241960 |
251 | Q>H | No |
ClinGen gnomAD |
|
|
rs111320448 CA9157993 |
251 | Q>R | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403744300 rs1284356003 |
252 | T>I | No |
ClinGen gnomAD |
|
|
CA9157992 rs200322895 |
253 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA305005134 rs200322895 |
253 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs757679567 CA9157991 |
254 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1389989298 CA403744278 |
255 | W>R | No |
ClinGen gnomAD |
|
|
CA9157990 rs373601288 |
256 | K>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305005126 rs201884280 |
256 | K>R | No |
ClinGen Ensembl |
|
|
CA9157989 rs764357945 |
259 | S>F | No |
ClinGen ExAC gnomAD |
|
|
rs1004931629 CA305005121 |
259 | S>P | No |
ClinGen Ensembl |
|
|
rs756129137 CA9157988 |
260 | S>G | No |
ClinGen ExAC gnomAD |
|
|
CA9157987 rs752774795 |
260 | S>I | No |
ClinGen ExAC gnomAD |
|
|
RCV000947912 rs80155757 CA9157985 |
260 | S>R | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA9157984 rs773247419 |
261 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403744177 rs1190571799 |
262 | P>L | No |
ClinGen gnomAD |
|
|
rs764912962 CA9157983 |
262 | P>S | No |
ClinGen ExAC |
|
|
rs761737505 CA9157982 |
263 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs564707710 CA305005103 |
264 | R>C | No |
ClinGen Ensembl |
|
|
CA9157981 rs776414844 |
265 | D>N | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 266 | S>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs368775014 CA305005099 |
267 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403744102 COSM257799 rs1195075574 |
268 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA9157979 rs746454471 |
269 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403744045 rs1476213775 |
272 | K>R | No |
ClinGen TOPMed |
|
|
CA9157977 rs772584060 |
273 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1303227282 CA403744021 |
274 | S>F | No |
ClinGen gnomAD |
|
|
rs1434962469 CA403744016 |
275 | Q>E | No |
ClinGen gnomAD |
|
|
rs1424999107 CA403744009 |
275 | Q>R | No |
ClinGen TOPMed |
|
|
CA403743993 rs1599882351 |
276 | P>L | No |
ClinGen Ensembl |
|
|
rs757546530 CA9157975 |
277 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757546530 CA305005085 |
277 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9157974 rs757546530 |
277 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1409803909 CA403743975 |
278 | L>P | No |
ClinGen gnomAD |
|
|
rs777904097 CA9157972 |
279 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403743966 rs777904097 |
279 | S>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs866427855 CA305005069 |
280 | D>A | No |
ClinGen Ensembl |
|
| TCGA novel | 280 | D>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs868512121 CA305005073 |
280 | D>N | No |
ClinGen Ensembl |
|
|
CA9157971 rs570407538 |
281 | F>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA9157970 rs570407538 |
281 | F>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1450096659 CA403743928 |
282 | P>A | No |
ClinGen gnomAD |
|
|
rs553761550 CA9157969 |
282 | P>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755129157 CA9157968 |
283 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA9157967 rs750325097 |
283 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs1180791590 CA403743875 |
286 | P>A | No |
ClinGen gnomAD |
|
|
COSM180071 CA9157964 rs533898136 |
286 | P>L | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
rs533898136 CA9157965 |
286 | P>R | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs1599882271 CA403743845 |
288 | P>H | No |
ClinGen Ensembl |
|
|
rs1346444673 CA403743825 |
289 | E>D | No |
ClinGen gnomAD |
|
|
rs771476394 CA9157960 |
290 | L>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9157959 rs745439697 |
290 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs771476394 CA403743821 |
290 | L>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1429761705 CA403743799 |
292 | D>G | No |
ClinGen TOPMed |
|
|
CA403743779 rs1384149408 |
294 | T>P | No |
ClinGen TOPMed |
|
|
CA403743767 rs1445040815 |
295 | R>G | No |
ClinGen TOPMed |
|
|
CA9157956 rs771472602 |
296 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403743727 rs1343803398 |
298 | S>L | No |
ClinGen gnomAD |
|
|
rs749610186 CA9157955 |
298 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs778129265 CA9157954 |
300 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA9157953 rs770190159 |
303 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA403743683 rs1174001263 |
304 | V>E | No |
ClinGen gnomAD |
|
|
CA9157952 rs531817922 |
304 | V>L | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA305005033 rs531817922 |
304 | V>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA305005027 rs375285996 |
306 | P>R | No |
ClinGen ESP TOPMed |
|
|
CA403743640 CA403743642 rs1157955417 |
307 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
CA403743648 rs1425720151 |
307 | K>R | No |
ClinGen gnomAD |
|
|
CA403743638 rs1468348520 |
308 | R>G | No |
ClinGen gnomAD |
|
|
CA9157950 rs569501823 |
309 | P>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1253722033 CA403743623 |
309 | P>S | No |
ClinGen gnomAD |
|
|
CA9157947 rs757251739 |
310 | R>P | No |
ClinGen ExAC gnomAD |
|
|
CA305005020 rs757251739 |
310 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs778653079 CA9157948 |
310 | R>W | No |
ClinGen ExAC gnomAD |
|
|
rs1312297572 CA403743598 |
311 | P>L | No |
ClinGen gnomAD |
|
|
rs370554450 CA305005013 |
312 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs370554450 CA9157945 |
312 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM1397770 rs1046877677 CA305005008 |
313 | E>K | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
rs1290598251 CA403743563 |
314 | F>S | No |
ClinGen gnomAD |
|
|
CA403743553 rs1355033311 |
315 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA9157943 rs752382855 |
316 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs948168996 CA305005001 |
317 | L>F | No |
ClinGen TOPMed |
|
|
CA9157942 rs767211263 |
317 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403743515 rs1455564306 |
318 | S>F | No |
ClinGen gnomAD |
|
|
CA403743483 rs773942766 |
321 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9157940 rs773942766 |
321 | P>T | No |
ClinGen ExAC gnomAD |
|
|
CA9157937 rs377529698 |
322 | P>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA403743468 rs1461521538 |
322 | P>S | No |
ClinGen TOPMed |
|
|
CA403743448 rs1415161565 |
323 | Q>H | No |
ClinGen gnomAD |
|
| TCGA novel | 324 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9157936 rs773746883 |
324 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403743442 rs1183244622 |
324 | P>S | No |
ClinGen gnomAD |
|
|
CA305004987 rs544712189 |
325 | E>D | No |
ClinGen 1000Genomes ExAC |
|
|
rs532897414 CA305004989 |
325 | E>K | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 326 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403743405 rs1463912617 |
327 | G>C | No |
ClinGen gnomAD |
|
|
rs1270625743 CA403743403 |
327 | G>D | No |
ClinGen gnomAD |
|
|
CA9157933 rs781218191 |
328 | G>D | No |
ClinGen ExAC gnomAD |
|
|
rs1334641756 CA403743397 |
328 | G>S | No |
ClinGen gnomAD |
|
|
CA9157932 rs768932675 |
329 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs768932675 CA403743387 |
329 | L>I | No |
ClinGen ExAC gnomAD |
|
|
rs747020335 CA9157931 |
329 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs867594827 CA305004977 |
330 | P>T | No |
ClinGen Ensembl |
|
|
CA403743346 rs1321176699 |
332 | T>I | No |
ClinGen gnomAD |
|
|
CA403743322 rs1347915729 |
334 | S>L | No |
ClinGen gnomAD |
|
|
rs1166733444 CA403743315 |
335 | E>G | No |
ClinGen gnomAD |
|
|
rs758601957 CA9157928 |
336 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1424028672 CA403743306 |
336 | P>T | No |
ClinGen gnomAD |
|
|
CA403743273 rs1450814828 |
338 | F>L | No |
ClinGen gnomAD |
|
|
rs777913335 CA9157925 |
338 | F>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1209907032 CA403743237 |
341 | L>F | No |
ClinGen gnomAD |
|
|
CA305004973 rs964612624 |
342 | P>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 343 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9157923 rs752540937 |
343 | R>T | No |
ClinGen ExAC gnomAD |
|
|
CA403743191 rs759244523 CA403743190 |
344 | K>N | No |
ClinGen ExAC gnomAD |
|
|
CA403743198 rs1599881983 |
344 | K>R | No |
ClinGen Ensembl |
|
|
rs1367450010 CA403743179 |
346 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9157920 rs751216829 |
348 | P>A | No |
ClinGen ExAC gnomAD |
|
|
rs765879141 CA403743148 |
348 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs765879141 CA9157919 |
348 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs369144041 CA403743128 |
350 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA403743126 rs1262038112 |
350 | R>H | No |
ClinGen TOPMed |
|
|
rs369144041 CA9157918 |
350 | R>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs762103173 CA9157915 |
351 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs1166359141 CA403743116 |
351 | R>W | No |
ClinGen gnomAD |
|
|
CA403743099 rs1205186803 |
352 | G>V | No |
ClinGen TOPMed |
|
|
CA305004963 rs891211988 |
353 | P>L | No |
ClinGen TOPMed |
|
|
CA403743079 rs1192525020 |
354 | P>L | No |
ClinGen gnomAD |
|
|
rs200997771 CA9157913 |
355 | R>C | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs200997771 CA403743076 |
355 | R>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs373788642 CA403743072 |
355 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs373788642 CA9157912 |
355 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs200997771 CA305004961 |
355 | R>S | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1250907145 CA403743007 |
360 | P>A | No |
ClinGen gnomAD |
|
|
rs775615863 CA9157911 |
360 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9157910 rs772276285 |
361 | E>G | No |
ClinGen ExAC gnomAD |
|
|
rs1329255775 CA403742975 |
362 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 363 | S>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777784615 CA9157908 |
363 | S>R | No |
ClinGen ExAC gnomAD |
|
|
CA403742948 rs1305730395 |
364 | A>D | No |
ClinGen gnomAD |
|
|
rs1372347069 CA403742953 COSM1397769 |
364 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA9157906 rs747847757 |
367 | K>R | No |
ClinGen ExAC gnomAD |
|
|
rs781014069 CA9157903 |
368 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1369731042 CA403742903 |
368 | R>K | No |
ClinGen gnomAD |
|
|
CA403742873 rs868174549 |
370 | P>L | No |
ClinGen gnomAD |
|
|
CA305004943 rs868174549 |
370 | P>Q | No |
ClinGen gnomAD |
|
| TCGA novel | 370 | P>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305004945 rs903902200 |
370 | P>T | No |
ClinGen Ensembl |
|
|
rs754765610 CA9157902 |
371 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs751216701 CA9157901 |
371 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA305004939 rs964452075 |
372 | P>R | No |
ClinGen TOPMed |
|
|
rs1568316816 CA403742856 |
372 | P>S | No |
ClinGen Ensembl |
|
|
rs766080966 TCGA novel CA9157900 |
374 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC gnomAD NCI-TCGA |
|
rs757849662 CA9157899 |
375 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs561836671 CA9157897 |
376 | G>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403742815 rs1187610358 |
378 | L>F | No |
ClinGen gnomAD |
|
|
CA403742811 rs1199897137 |
378 | L>P | No |
ClinGen gnomAD |
|
|
rs1342997107 CA403742804 |
379 | P>L | No |
ClinGen gnomAD |
|
|
rs1257620412 CA403742802 COSM1003542 |
380 | R>* | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1233891966 CA403742800 |
380 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403742801 rs1233891966 |
380 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA403742791 rs751558428 |
381 | K>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403742776 rs1411471996 |
384 | L>F | No |
ClinGen gnomAD |
|
|
CA403742769 rs1599881734 |
385 | P>R | No |
ClinGen Ensembl |
|
|
CA403742770 rs1350701973 |
385 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 386 | S>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs762405383 CA9157896 |
386 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs562171237 CA305004928 |
387 | S>C | No |
ClinGen Ensembl |
|
|
CA9157895 rs138042924 |
387 | S>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9157894 rs764489809 |
388 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1268921609 CA403742751 |
388 | A>V | No |
ClinGen Ensembl |
|
|
CA305004925 rs989632230 |
390 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA403742713 rs1157373245 |
394 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
rs775721642 CA403742708 |
395 | A>G | No |
ClinGen ExAC gnomAD |
|
|
rs775721642 CA9157892 |
395 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs555985088 CA9157890 |
396 | A>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs774595612 CA9157889 |
397 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1464362155 CA403742692 |
398 | A>V | No |
ClinGen gnomAD |
|
|
CA9157887 rs748083987 |
399 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403742690 rs1227120711 |
399 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403742675 rs1229946483 |
401 | S>N | No |
ClinGen gnomAD |
|
|
rs781054510 CA403742664 |
403 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA9157885 rs375102545 |
403 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs781054510 CA9157886 |
403 | R>W | No |
ClinGen ExAC gnomAD |
|
|
CA403742657 rs1599881628 |
404 | H>P | No |
ClinGen Ensembl |
|
| TCGA novel | 405 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1341964163 CA403742649 |
405 | P>R | No |
ClinGen gnomAD |
|
|
CA9157883 rs202063115 |
406 | L>P | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA403742637 rs1568316687 |
407 | S>I | No |
ClinGen Ensembl |
|
|
rs201139615 CA9157880 |
408 | P>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1319172481 CA403742631 |
408 | P>L | No |
ClinGen gnomAD |
|
|
rs201139615 CA9157881 |
408 | P>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403742623 rs1366676955 |
410 | F>L | No |
ClinGen TOPMed |
|
|
CA403742617 rs1599881581 |
410 | F>L | No |
ClinGen Ensembl |
|
|
rs1389856238 CA403742612 |
411 | G>A | No |
ClinGen gnomAD |
|
|
rs1471928219 CA403742607 |
412 | A>E | No |
ClinGen gnomAD |
|
|
rs1471928219 CA403742605 |
412 | A>V | No |
ClinGen gnomAD |
|
|
rs1568316648 CA403742602 |
413 | A>S | No |
ClinGen Ensembl |
|
|
COSM1527448 CA403742603 rs1568316648 |
413 | A>T | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated Ensembl NCI-TCGA |
|
rs764569844 CA9157875 |
414 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs764569844 CA9157876 |
414 | G>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1370459167 CA403742598 |
414 | G>R | No |
ClinGen gnomAD |
|
|
rs1465336729 CA403742583 |
416 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA403742584 rs1465336729 |
416 | P>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1207884758 CA403742579 |
417 | R>H | No |
ClinGen gnomAD |
|
|
CA403742565 rs1599881531 |
419 | R>K | No |
ClinGen Ensembl |
|
|
CA403742532 rs1392751923 |
424 | V>G | No |
ClinGen gnomAD |
|
|
rs1295967374 CA403742520 |
426 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA9157871 rs759809209 |
427 | G>R | No |
ClinGen ExAC gnomAD |
|
|
rs774750966 CA9157870 |
429 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA9157869 rs771127458 |
430 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA403742496 rs1429111301 |
430 | R>K | No |
ClinGen gnomAD |
|
|
rs1449973843 CA403742489 |
431 | P>L | No |
ClinGen gnomAD |
|
|
CA9157868 rs762997733 |
431 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403742484 rs1246104650 |
432 | G>D | No |
ClinGen gnomAD |
|
|
rs1196425390 CA403742477 |
433 | L>R | No |
ClinGen gnomAD |
|
|
rs776571799 CA9157867 |
434 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA403742473 rs1160628040 |
434 | R>I | No |
ClinGen TOPMed |
|
|
CA403742463 rs1290070436 |
436 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 437 | H>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403742446 rs1204013614 |
438 | P>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1204013614 CA403742447 |
438 | P>T | No |
ClinGen TOPMed gnomAD |
|
|
CA9157866 rs768485705 |
439 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs768485705 CA403742438 |
439 | P>R | No |
ClinGen ExAC gnomAD |
|
|
CA403742435 rs1228547794 |
440 | R>L | No |
ClinGen gnomAD |
|
| TCGA novel | 440 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs974380189 CA305004894 |
441 | R>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA9157865 rs746782240 |
441 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs779850880 CA9157864 |
443 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA403742420 rs1274797026 |
443 | P>S | No |
ClinGen gnomAD |
|
|
rs1599881446 CA403741970 |
446 | P>A | No |
ClinGen Ensembl |
|
| TCGA novel | 446 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403741958 rs1187333734 |
448 | S>G | No |
ClinGen TOPMed |
|
|
rs1019236255 CA305004886 |
448 | S>T | No |
ClinGen gnomAD |
|
|
rs1170543025 CA403741939 |
451 | G>R | No |
ClinGen gnomAD |
|
|
CA403741931 rs1599881429 |
452 | H>P | No |
ClinGen Ensembl |
|
|
CA305004884 rs1037764158 |
452 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1443187531 CA403741925 |
453 | P>T | No |
ClinGen TOPMed |
|
|
CA9157862 rs745489329 |
454 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs74178103 CA305004881 |
454 | P>S | No |
ClinGen Ensembl |
|
|
CA403741916 rs1599881412 |
455 | A>T | No |
ClinGen Ensembl |
|
|
CA9157861 rs778605432 |
455 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9157859 rs753290594 |
457 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA9157857 rs756600858 |
458 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs756600858 CA9157858 |
458 | P>R | No |
ClinGen ExAC gnomAD |
|
|
rs1217990585 CA403741878 |
461 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1284293633 CA403741877 |
462 | G>R | No |
ClinGen gnomAD |
|
|
CA9157851 rs763025315 |
464 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA9157852 rs766521799 |
464 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9157850 rs773199677 |
465 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374625111 CA9157849 |
466 | M>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs759486443 CA305004868 |
466 | M>V | No |
ClinGen Ensembl |
|
|
CA305004864 rs1057153124 |
467 | Q>H | No |
ClinGen Ensembl |
|
|
rs1416092875 CA403741821 |
470 | R>P | No |
ClinGen gnomAD |
|
|
rs1416092875 CA403741822 |
470 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs73499687 CA403741823 |
470 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs886632918 CA305004859 |
471 | R>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs886632918 CA403741817 |
471 | R>T | No |
ClinGen TOPMed |
|
|
rs1158113503 CA403741796 |
474 | A>V | No |
ClinGen gnomAD |
|
|
rs1413660112 CA403741784 |
476 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 479 | L>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA9157820 rs530402541 |
480 | R>P | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA9157819 rs530402541 |
480 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
COSM1397768 CA9157821 rs546942995 |
480 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs755575403 CA9157816 |
482 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs1225360868 CA403741741 |
482 | T>S | No |
ClinGen TOPMed |
|
|
rs755575403 CA9157817 |
482 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs1488375380 CA403741737 |
483 | R>C | No |
ClinGen gnomAD |
|
|
rs1245130996 CA403741734 |
483 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1245130996 CA403741735 |
483 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs370907749 CA9157815 |
484 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA403741730 rs370907749 |
484 | S>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1180048707 CA403741719 |
486 | A>G | No |
ClinGen TOPMed |
|
|
CA9157810 rs757273249 |
486 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA9157809 rs548161574 |
488 | L>F | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA403741677 rs1365244541 |
492 | D>V | No |
ClinGen gnomAD |
|
|
rs1295132314 CA403741672 |
493 | R>Q | No |
ClinGen gnomAD |
|
|
rs1405178248 CA403741668 |
494 | Q>E | No |
ClinGen gnomAD |
|
|
CA9157807 rs759443724 |
495 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA403741654 rs1166143587 |
496 | E>* | No |
ClinGen TOPMed gnomAD |
|
|
CA403741656 rs1166143587 |
496 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA9157805 rs766079758 |
497 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs766079758 CA403741648 |
497 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA9157804 rs762863817 |
498 | I>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9157802 rs769574006 |
499 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9157803 rs769574006 |
499 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1432906682 CA403741614 |
499 | P>S | No |
ClinGen gnomAD |
|
|
rs1184145918 CA403741495 |
501 | V>A | No |
ClinGen gnomAD |
|
|
CA403741503 rs1197428055 |
501 | V>I | No |
ClinGen TOPMed |
|
|
rs756090248 CA9157761 |
503 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA403741478 rs1428652793 |
503 | D>H | No |
ClinGen TOPMed |
|
|
rs1206713937 CA403741459 |
504 | E>A | No |
ClinGen gnomAD |
|
|
rs1350915785 CA403741452 |
504 | E>D | No |
ClinGen gnomAD |
|
|
CA403741435 rs1166345410 |
506 | Y>H | No |
ClinGen gnomAD |
|
|
CA9157758 rs567103236 |
507 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs567103236 CA9157759 |
507 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs373214724 CA305004563 |
509 | Y>C | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs761767348 CA403741365 |
511 | D>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9157755 rs761767348 |
511 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA403741363 rs761767348 |
511 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403741332 rs1418130395 |
513 | E>A | No |
ClinGen Ensembl |
|
|
CA403741317 rs1385887820 |
514 | P>L | No |
ClinGen gnomAD |
|
|
rs369525236 CA305004555 |
515 | R>T | No |
ClinGen ESP |
|
|
CA403741276 rs1162891186 |
519 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
CA9157750 rs775099526 |
523 | K>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9157751 rs760039948 |
523 | K>R | No |
ClinGen ExAC TOPMed |
|
|
CA9157749 rs771529137 |
525 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403741237 rs1246168016 |
525 | R>S | No |
ClinGen gnomAD |
|
|
CA9157724 rs73499680 |
528 | A>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs73499680 CA9157723 |
528 | A>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1463100789 CA403739946 |
529 | P>S | No |
ClinGen gnomAD |
|
|
CA403739899 rs1264108495 |
532 | Q>H | No |
ClinGen gnomAD |
|
|
rs1242564502 CA403739904 |
532 | Q>R | No |
ClinGen TOPMed |
|
|
CA403739887 rs1208545996 |
533 | Q>P | No |
ClinGen gnomAD |
|
|
CA403739874 rs1315300334 |
534 | A>S | No |
ClinGen gnomAD |
|
|
CA403739868 rs1286645992 |
534 | A>V | No |
ClinGen gnomAD |
|
|
rs778932106 CA403739858 |
535 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs778932106 CA9157720 |
535 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1454510761 CA403739838 |
536 | R>K | No |
ClinGen gnomAD |
|
|
rs368598114 CA305001280 |
537 | R>K | No |
ClinGen ESP TOPMed |
|
|
rs757294384 CA9157719 |
539 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs757294384 CA403739791 |
539 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs888051265 CA305001278 |
540 | Q>R | No |
ClinGen TOPMed |
|
|
CA9157716 rs377229945 |
543 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA305001276 rs377229945 |
543 | A>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs749046246 CA9157717 |
543 | A>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403739717 rs749046246 |
543 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9157715 rs377229945 |
543 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA403739586 rs1391322462 |
545 | R>S | No |
ClinGen gnomAD |
|
|
rs897852242 CA305001257 |
546 | K>* | No |
ClinGen Ensembl |
|
|
CA403739540 rs760961110 CA9157684 |
547 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1321582809 CA403739560 |
547 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA403739508 rs1296018488 |
549 | D>N | No |
ClinGen gnomAD |
|
|
CA403739464 rs1356843959 |
552 | P>S | No |
ClinGen gnomAD |
|
|
CA305001252 rs1037680577 |
553 | Q>K | No |
ClinGen gnomAD |
|
|
rs1480332744 CA403739419 |
554 | Q>* | No |
ClinGen gnomAD |
|
|
rs1201877672 CA403739386 |
555 | L>S | No |
ClinGen gnomAD |
|
|
CA403739346 rs1249871115 |
557 | P>R | No |
ClinGen gnomAD |
|
|
rs925874945 CA305001249 |
557 | P>S | No |
ClinGen TOPMed |
|
|
rs759697733 CA9157680 |
558 | M>T | No |
ClinGen ExAC gnomAD |
|
|
CA9157678 rs769649402 COSM1003540 |
560 | P>S | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
CA403739273 rs1222124685 |
561 | K>N | No |
ClinGen TOPMed |
|
| TCGA novel | 561 | K>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403739258 rs1413092914 |
564 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
CA305001244 rs933527144 |
564 | K>T | No |
ClinGen Ensembl |
|
| TCGA novel | 570 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs747927624 CA9157677 |
572 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA403739198 rs1349542065 |
572 | A>V | No |
ClinGen gnomAD |
|
|
CA9157675 rs545511903 |
573 | E>K | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1299249711 CA403739186 |
574 | R>W | No |
ClinGen gnomAD |
|
|
rs1404349481 CA403739170 |
575 | E>* | No |
ClinGen gnomAD |
|
|
rs914240115 CA403739168 |
575 | E>A | No |
ClinGen gnomAD |
|
|
rs914240115 CA305001239 |
575 | E>V | No |
ClinGen gnomAD |
|
|
CA9157673 rs779740808 |
576 | F>V | No |
ClinGen ExAC gnomAD |
|
|
CA403739140 rs1179698404 COSM1003539 |
577 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA403739143 rs1363460968 |
577 | R>W | No |
ClinGen gnomAD |
|
|
rs1568313259 CA403739124 |
578 | K>N | No |
ClinGen Ensembl |
|
|
CA403739030 rs1568313115 |
582 | F>S | No |
ClinGen Ensembl |
|
|
CA305001207 rs897869202 |
583 | E>Q | No |
ClinGen gnomAD |
|
|
rs375200346 CA403738985 |
586 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 586 | I>T | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs373449981 CA9157644 |
587 | V>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA9157643 rs767797667 |
588 | V>A | No |
ClinGen ExAC gnomAD |
|
|
CA403738965 rs755132467 |
589 | H>D | No |
ClinGen ExAC gnomAD |
|
|
CA9157641 rs751846387 |
589 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA9157642 rs755132467 |
589 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1475078047 CA403738947 |
590 | T>M | No |
ClinGen gnomAD |
|
|
rs538769149 CA9157640 |
591 | K>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538769149 CA403738938 |
591 | K>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs538769149 CA403738940 |
591 | K>T | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403738921 rs1412647833 |
592 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
CA403738902 rs1267772842 |
594 | I>V | No |
ClinGen gnomAD |
|
|
CA403738886 rs1599875744 |
595 | D>A | No |
ClinGen Ensembl |
|
|
CA403738895 rs1219534236 |
595 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
rs760422876 CA9157636 |
598 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs566406955 COSM1003537 CA9157635 |
601 | R>C | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA9157634 rs771955100 |
601 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9157633 rs745481872 |
602 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs745481872 CA403738817 |
602 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1027874916 COSM1397767 CA305001192 |
602 | R>H | large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA9157630 CA9157631 rs372574211 |
603 | G>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs764450830 CA305001187 |
604 | G>S | No |
ClinGen Ensembl |
|
|
rs1403120316 CA403738788 |
605 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
rs1403120316 CA403738791 |
605 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
CA403738776 rs1303910582 |
606 | K>R | No |
ClinGen gnomAD |
|
|
rs1394276287 CA403738767 |
607 | H>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1394276287 CA403738764 |
607 | H>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1169389305 CA403738751 |
608 | L>F | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA403738738 rs1599875647 |
609 | G>E | No |
ClinGen Ensembl |
|
|
rs189761626 CA9157627 |
609 | G>R | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA403738718 rs1268936829 |
611 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1268936829 CA403738721 |
611 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs781661272 CA9157626 |
611 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs755437699 CA9157625 |
612 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751716438 CA9157624 |
612 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403738701 rs1555713285 |
613 | G>A | No |
ClinGen Ensembl |
|
|
rs750535341 CA9157621 |
613 | G>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs763971313 CA9157620 |
615 | I>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs376347206 CA403738673 |
616 | L>M | No |
ClinGen ESP gnomAD |
|
|
rs376347206 CA305001176 |
616 | L>V | No |
ClinGen ESP gnomAD |
|
|
rs1408389808 CA403738647 |
617 | E>D | No |
ClinGen TOPMed |
|
|
CA403738585 rs760586369 |
620 | E>D | No |
ClinGen ExAC gnomAD |
|
|
CA403738610 rs1275492003 |
620 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
CA403738557 rs1441606497 |
622 | T>I | No |
ClinGen gnomAD |
|
|
CA305001171 rs904356245 |
626 | E>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1466126659 CA403738493 |
626 | E>K | No |
ClinGen TOPMed gnomAD |
|
|
rs201703893 CA9157616 |
626 | E>V | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1429588077 CA403738462 |
628 | L>M | No |
ClinGen gnomAD |
|
|
CA9157614 rs770646585 |
629 | C>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770646585 CA9157613 |
629 | C>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368103328 CA305001162 |
630 | R>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA9157610 rs769467392 |
630 | R>Q | No |
ClinGen ExAC gnomAD |
|
|
rs368103328 CA9157611 |
630 | R>W | No |
ClinGen ESP ExAC gnomAD |
|
|
rs748660216 CA9157609 |
631 | D>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA305001150 rs972557707 |
632 | P>H | No |
ClinGen Ensembl |
|
| TCGA novel | 632 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA305001152 rs773394522 |
632 | P>S | No |
ClinGen gnomAD |
|
|
CA9157608 rs781778918 |
633 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9157607 rs768845751 |
634 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1268110645 CA403738359 |
635 | K>R | No |
ClinGen TOPMed |
|
|
rs1161867726 CA403738286 |
636 | Y>C | No |
ClinGen TOPMed |
|
|
CA403738274 rs1251827353 |
637 | G>R | No |
ClinGen gnomAD |
|
|
rs779168307 CA9157582 |
638 | Y>S | No |
ClinGen ExAC gnomAD |
|
|
rs753195316 CA305001084 |
639 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
CA9157580 rs753946241 |
641 | R>* | No |
ClinGen ExAC gnomAD |
|
|
CA403738199 rs1295870494 |
641 | R>T | No |
ClinGen TOPMed |
|
|
CA9157579 rs780939914 |
643 | A>V | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA9157549 rs763659725 |
649 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA9157548 rs760164429 |
649 | T>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA9157546 rs768020302 |
650 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA403738123 rs1599875002 |
651 | V>G | No |
ClinGen Ensembl |
|
|
CA403738128 rs1441408390 |
651 | V>M | No |
ClinGen gnomAD |
|
|
rs1459822360 CA403738114 |
653 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA9157543 rs774673836 |
653 | D>V | No |
ClinGen ExAC gnomAD |
|
|
rs1459822360 CA403738112 |
653 | D>Y | No |
ClinGen gnomAD |
|
|
CA403738106 rs1485365532 |
654 | D>H | No |
ClinGen gnomAD |
|
| TCGA novel | 654 | D>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1255638699 CA403738099 |
655 | V>I | No |
ClinGen TOPMed |
|
|
rs1241714513 CA403738093 |
656 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 657 | F>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs749520399 CA9157541 |
657 | F>L | No |
ClinGen ExAC gnomAD |
|
| rs200993518 | 658 | C>= | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403738073 rs1310638881 |
658 | C>Y | No |
ClinGen gnomAD |
|
|
rs769853806 CA9157539 |
659 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs377607401 CA9157511 |
660 | P>A | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA9157510 rs377607401 |
660 | P>T | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 661 | L>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 662 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1210749798 CA403738035 |
662 | E>K | No |
ClinGen gnomAD |
|
|
CA403738012 rs966095262 |
663 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
CA9157509 rs780673312 |
663 | N>S | No |
ClinGen ExAC gnomAD |
|
|
rs780673312 CA403738017 |
663 | N>T | No |
ClinGen ExAC gnomAD |
|
|
CA403738008 rs1256630894 |
664 | Q>* | No |
ClinGen gnomAD |
|
|
CA9157508 rs754538247 |
666 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA403737963 rs754538247 |
666 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1282669770 CA403737940 |
667 | P>L | No |
ClinGen gnomAD |
|
| TCGA novel | 668 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 668 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA403737930 rs1277164940 |
668 | L>P | No |
ClinGen TOPMed |
|
|
CA403737908 rs1390811157 |
669 | G>E | No |
ClinGen gnomAD |
|
|
CA403737917 rs1324144812 |
669 | G>R | No |
ClinGen gnomAD |
|
|
rs377529811 CA9157504 |
670 | R>Q | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs181508170 CA9157505 |
670 | R>W | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs763336932 CA9157503 |
671 | R>Y | No |
ClinGen ExAC TOPMed gnomAD |
No associated diseases with Q96QH2
2 GO annotations of cellular component
| Name | Definition |
|---|---|
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
| protein-containing complex | A stable assembly of two or more macromolecules, i.e. proteins, nucleic acids, carbohydrates or lipids, in which at least one component is a protein and the constituent parts function together. |
2 GO annotations of molecular function
| Name | Definition |
|---|---|
| lipid binding | Binding to a lipid. |
| protein kinase binding | Binding to a protein kinase, any enzyme that catalyzes the transfer of a phosphate group, usually from ATP, to a protein substrate. |
4 GO annotations of biological process
| Name | Definition |
|---|---|
| integrin-mediated signaling pathway | The series of molecular signals initiated by an extracellular ligand binding to an integrin on the surface of a target cell, and ending with the regulation of a downstream cellular process, e.g. transcription. |
| protein localization to plasma membrane | A process in which a protein is transported to, or maintained in, a specific location in the plasma membrane. |
| regulation of neutrophil degranulation | Any process that modulates the frequency, rate, or extent of neutrophil degranulation. |
| T cell receptor signaling pathway | The series of molecular signals initiated by the cross-linking of an antigen receptor on a T cell. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q5VWT5 | FYB2 | FYN-binding protein 2 | Homo sapiens (Human) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MAHHLPAAME | SHQDFRSIKA | KFQASQPEPS | DLPKKPPKPE | FGKLKKFSQP | ELSEHPKKAP |
| 70 | 80 | 90 | 100 | 110 | 120 |
| LPEFGAVSLK | PPPPEVTDLP | KKPPPPEVTD | LPKKPPPPEV | TDLPKKPPPP | EVTDLPKKPS |
| 130 | 140 | 150 | 160 | 170 | 180 |
| KLELSDLSKK | FPQLGATPFP | RKPLQPEVGE | APLKASLPEP | GAPARKPLQP | DELSHPARPP |
| 190 | 200 | 210 | 220 | 230 | 240 |
| SEPKSGAFPR | KLWQPEAGEA | TPRSPQPELS | TFPKKPAQPE | FNVYPKKPPQ | PQVGGLPKKS |
| 250 | 260 | 270 | 280 | 290 | 300 |
| VPQPEFSEAA | QTPLWKPQSS | EPKRDSSAFP | KKASQPPLSD | FPKKPPQPEL | GDLTRTSSEP |
| 310 | 320 | 330 | 340 | 350 | 360 |
| EVSVLPKRPR | PAEFKALSKK | PPQPELGGLP | RTSSEPEFNS | LPRKLLQPER | RGPPRKFSQP |
| 370 | 380 | 390 | 400 | 410 | 420 |
| EPSAVLKRHP | QPEFFGDLPR | KPPLPSSASE | SSLPAAVAGF | SSRHPLSPGF | GAAGTPRWRS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| GGLVHSGGAR | PGLRPSHPPR | RRPLPPASSL | GHPPAKPPLP | PGPVDMQSFR | RPSAASIDLR |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RTRSAAGLHF | QDRQPEDIPQ | VPDEIYELYD | DVEPRDDSSP | SPKGRDEAPS | VQQAARRPPQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| DPALRKEKDP | QPQQLPPMDP | KLLKQLRKAE | KAEREFRKKF | KFEGEIVVHT | KMMIDPNAKT |
| 610 | 620 | 630 | 640 | 650 | 660 |
| RRGGGKHLGI | RRGEILEVIE | FTSNEEMLCR | DPKGKYGYVP | RTALLPLETE | VYDDVDFCDP |
| LENQPLPLGR |