Q7RTW8
PR
Gene name |
OTOA |
Protein name |
Otoancorin |
Names |
|
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:146183 |
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 Q7RTW8
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| AF-Q7RTW8-F1 | Predicted | AlphaFoldDB |
838 variants for Q7RTW8
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000764036 RCV000219005 rs372826296 CA7952171 CA395050899 |
32 | L>F | Autosomal recessive nonsyndromic hearing loss 22 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7952341 RCV000214655 RCV001658018 rs142850013 RCV002518182 |
202 | R>P | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001732104 CA7952381 RCV001266323 rs150595232 |
227 | S>Y | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA16609581 rs1060499804 RCV000454173 |
356 | D>V | Autosomal recessive nonsyndromic hearing loss 22 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000155779 CA183465 RCV001657889 RCV002466450 rs727504599 |
405 | S>L | Autosomal recessive nonsyndromic hearing loss 22 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001291114 rs200656442 RCV000087054 CA267576 |
465 | G>D | Hearing loss, autosomal recessive Autosomal recessive nonsyndromic hearing loss 22 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA182444 rs138141474 RCV000842420 RCV000477863 RCV000155247 |
522 | V>A | Autosomal recessive nonsyndromic hearing loss 22 [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA7952752 RCV000622552 RCV002531904 rs755291566 |
590 | I>T | Inborn genetic diseases [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA7952817 RCV000790944 RCV001797142 rs764347046 |
621 | A>V | Variant assessed as Somatic; 0.0 impact. Autosomal recessive nonsyndromic hearing loss 22 [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1567391195 RCV000785166 CA395065273 |
625 | W>R | Autosomal recessive nonsyndromic hearing loss 22 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs587777133 CA267578 RCV000087055 RCV002281927 |
641 | P>S | Autosomal recessive nonsyndromic hearing loss 22 [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
COSM968500 COSM1588336 CA182449 RCV001568527 RCV000155250 RCV001291113 rs145160241 |
721 | A>V | endometrium Hearing loss, autosomal recessive [Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002554799 CA7952911 RCV001089577 rs140364490 |
750 | G>E | Autosomal recessive nonsyndromic hearing loss 22 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000764037 CA248918 rs464696 RCV000202722 |
799 | T>P | Autosomal recessive nonsyndromic hearing loss 22 [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs200988634 RCV000764038 RCV000202954 RCV000825538 CA249153 |
801 | E>* | Autosomal recessive nonsyndromic hearing loss 22 Rare genetic deafness [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA395066354 RCV000790512 rs1377749598 |
1077 | P>R | Autosomal recessive nonsyndromic hearing loss 22 [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA7952133 rs769673166 |
3 | Q>E | No |
ClinGen ExAC |
|
|
CA7952134 rs774328343 |
5 | P>S | No |
ClinGen ExAC gnomAD |
|
|
CA7952135 rs144912852 COSM3402170 COSM3402171 |
6 | T>M | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA7952139 rs148606491 |
9 | S>F | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs546735877 CA7952140 |
10 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395050289 rs1294314919 |
11 | F>S | No |
ClinGen gnomAD |
|
|
rs754205689 CA7952141 |
12 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs1597805643 CA395050352 |
14 | L>H | No |
ClinGen Ensembl |
|
|
CA142250 RCV002054809 RCV000041226 rs78970023 |
15 | F>Y | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA395050400 rs1287549445 |
17 | S>T | No |
ClinGen gnomAD |
|
|
CA395050443 rs1319997267 |
18 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1329708498 CA395050433 |
18 | H>R | No |
ClinGen gnomAD |
|
|
rs765770190 CA7952142 |
19 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1597805671 CA395050500 |
20 | V>E | No |
ClinGen Ensembl |
|
|
rs779422476 CA7952145 |
20 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs779422476 CA7952146 |
20 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs754607351 CA7952147 |
21 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7952149 rs747900321 |
24 | T>A | No |
ClinGen ExAC gnomAD |
|
|
CA279392344 rs992831580 |
31 | D>N | No |
ClinGen Ensembl |
|
|
rs766274586 CA7952170 |
31 | D>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7952172 rs747016683 |
34 | P>L | No |
ClinGen ExAC gnomAD |
|
|
rs777048518 CA7952174 |
35 | L>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1486052758 CA395051040 |
39 | M>L | No |
ClinGen TOPMed |
|
|
rs201061211 CA7952177 COSM968489 |
40 | A>V | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
CA395051105 rs1194165198 |
43 | I>V | No |
ClinGen gnomAD |
|
|
RCV000726556 rs730882117 RCV000155245 CA182440 |
44 | I>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs757845701 CA279392574 |
47 | S>G | No |
ClinGen gnomAD |
|
|
rs1448784584 CA395051204 |
48 | Y>C | No |
ClinGen TOPMed |
|
|
rs752789222 CA7952209 |
53 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA395051366 rs1380112156 |
56 | I>L | No |
ClinGen TOPMed |
|
|
rs756365553 CA7952210 |
57 | Q>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA395051387 rs1162202396 |
57 | Q>R | No |
ClinGen gnomAD |
|
|
rs777803753 CA7952211 |
58 | F>S | No |
ClinGen ExAC gnomAD |
|
|
CA10606443 RCV000406800 rs886044177 |
59 | Q>K | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs1388167388 CA395051441 |
60 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 60 | S>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369772866 CA279393624 |
61 | S>A | No |
ClinGen ESP TOPMed gnomAD |
|
| TCGA novel | 61 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs369772866 CA395052014 RCV001002789 |
61 | S>P | No |
ClinGen ClinVar ESP TOPMed dbSNP gnomAD |
|
|
rs1248321272 CA395052020 |
62 | H>Y | No |
ClinGen gnomAD |
|
|
CA7952222 rs755864812 |
63 | V>L | No |
ClinGen ExAC gnomAD |
|
|
rs755864812 CA7952223 |
63 | V>M | No |
ClinGen ExAC gnomAD |
|
|
rs1205597564 CA395052034 |
64 | W>S | No |
ClinGen gnomAD |
|
|
CA7952225 rs140152105 |
65 | T>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs140152105 CA7952224 |
65 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1054046525 CA279393640 |
66 | D>N | No |
ClinGen Ensembl |
|
|
CA279393641 rs893453707 |
69 | S>P | No |
ClinGen gnomAD |
|
|
CA395052073 rs1199835713 |
70 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
rs373454098 CA7952226 |
72 | V>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395052092 rs1445898502 |
73 | L>P | No |
ClinGen gnomAD |
|
|
CA7952228 rs777905759 |
76 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs756208278 CA7952227 |
76 | L>V | No |
ClinGen ExAC gnomAD |
|
|
CA279393646 rs995856279 |
78 | S>P | No |
ClinGen TOPMed |
|
|
rs147088274 CA395052126 |
79 | R>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7952230 RCV000602233 rs147088274 RCV000514016 |
79 | R>Q | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs754047945 CA7952229 |
79 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 80 | N>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772578617 CA7952233 |
82 | A>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs200249536 CA7952232 |
82 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395052164 rs1454649247 |
85 | I>T | No |
ClinGen gnomAD |
|
|
CA7952236 rs376927793 |
87 | S>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1162683061 CA395053138 |
90 | A>V | No |
ClinGen gnomAD |
|
|
CA7952262 rs759414633 |
92 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759414633 CA395053153 |
92 | V>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs767421718 CA7952263 |
93 | E>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1597809481 CA395053182 |
94 | N>T | No |
ClinGen Ensembl |
|
|
CA395053194 rs1567366652 |
95 | H>L | No |
ClinGen Ensembl |
|
|
CA395053197 rs1567366652 |
95 | H>P | No |
ClinGen Ensembl |
|
|
rs776587492 CA7952264 |
95 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1489054328 CA395053306 |
99 | R>H | No |
ClinGen TOPMed |
|
|
rs1246137925 CA395053351 |
101 | H>P | No |
ClinGen gnomAD |
|
|
rs1316682850 CA395053366 |
101 | H>Q | No |
ClinGen gnomAD |
|
|
CA279395195 rs368456979 |
102 | Q>* | No |
ClinGen ESP |
|
|
CA395053383 rs1567366698 |
102 | Q>R | No |
ClinGen Ensembl |
|
|
CA7952270 rs761937183 |
104 | Q>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1438859237 CA395053458 |
105 | K>R | No |
ClinGen gnomAD |
|
|
rs1472489067 CA395053488 |
108 | E>K | No |
ClinGen gnomAD |
|
|
rs1184358879 CA395053551 |
109 | D>E | No |
ClinGen gnomAD |
|
|
CA395053570 rs1293784308 |
110 | L>V | No |
ClinGen TOPMed |
|
|
CA7952273 rs750680215 |
111 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7952274 rs758593584 |
112 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs751909775 CA7952276 |
114 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7952277 rs755447331 COSM267090 |
115 | A>T | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA395053717 rs1299215118 |
115 | A>V | No |
ClinGen TOPMed |
|
|
CA7952278 rs781684262 |
116 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs1399720818 CA395053766 |
117 | Q>* | No |
ClinGen TOPMed |
|
|
rs1358547221 CA395053770 |
117 | Q>P | No |
ClinGen gnomAD |
|
|
rs777388246 CA7952281 |
119 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA279395216 rs963348134 |
119 | R>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
|
rs1227252874 CA395053856 |
120 | T>N | No |
ClinGen gnomAD |
|
|
rs748997472 CA7952282 |
120 | T>S | No |
ClinGen ExAC gnomAD |
|
|
CA395053894 rs1458856429 |
121 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed |
| TCGA novel | 122 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1269926494 CA395053898 |
122 | M>L | No |
ClinGen gnomAD |
|
|
rs1269926494 CA395053900 |
122 | M>V | No |
ClinGen gnomAD |
|
|
rs1315150477 CA395053954 |
124 | C>R | No |
ClinGen TOPMed gnomAD |
|
|
rs981884001 CA279395220 |
124 | C>Y | No |
ClinGen TOPMed |
|
|
rs772099935 CA279395224 |
126 | L>S | No |
ClinGen Ensembl |
|
|
rs778605976 CA7952284 |
127 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA279395232 COSM3794681 rs778605976 COSM3794680 |
127 | E>Q | urinary_tract [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
rs1478617161 CA395054073 |
128 | D>E | No |
ClinGen TOPMed |
|
|
CA7952287 rs367679697 |
131 | D>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395054138 rs1192690006 |
131 | D>V | No |
ClinGen TOPMed |
|
|
rs1204323400 CA395054154 |
132 | G>C | No |
ClinGen gnomAD |
|
|
CA7952300 RCV000825993 rs753359371 |
134 | D>G | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA395054786 rs1456240886 |
136 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 137 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs528287058 CA7952303 |
140 | I>L | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs142664340 CA7952304 |
141 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1597810818 CA395054966 |
144 | E>A | No |
ClinGen Ensembl |
|
|
COSM968491 rs561680253 CA7952306 |
146 | R>* | endometrium [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD |
|
rs561680253 CA279395851 |
146 | R>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
COSM1708937 rs746967874 CA7952307 |
146 | R>Q | Variant assessed as Somatic; 0.0 impact. skin [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7952308 rs768538095 |
148 | R>* | No |
ClinGen ExAC gnomAD |
|
|
rs773282376 CA7952309 |
148 | R>Q | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs113820086 CA7952310 RCV000825410 |
149 | A>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs113820086 CA7952311 |
149 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs368501820 CA7952312 |
151 | Q>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7952313 rs759649728 |
152 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395055153 rs1189609952 |
152 | S>R | No |
ClinGen TOPMed |
|
|
rs1208308272 CA395055199 |
154 | G>A | No |
ClinGen gnomAD |
|
|
rs753063121 CA7952315 |
155 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs759241745 CA7952316 |
157 | R>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279395877 rs867078628 |
157 | R>H | No |
ClinGen TOPMed gnomAD |
|
|
CA395055246 rs867078628 |
157 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395055256 rs1181814255 |
158 | S>C | No |
ClinGen gnomAD |
|
|
rs754381802 CA7952318 |
160 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 165 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs138735724 CA7952320 |
165 | E>K | No |
ClinGen ESP ExAC TOPMed |
|
|
CA7952322 rs757934877 |
166 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1365857107 CA395055458 |
166 | R>T | No |
ClinGen gnomAD |
|
|
rs779851039 CA7952323 |
167 | C>S | No |
ClinGen ExAC gnomAD |
|
|
rs1369187378 CA395055543 |
171 | L>P | No |
ClinGen gnomAD |
|
|
CA7952324 rs746737589 |
175 | E>G | No |
ClinGen ExAC gnomAD |
|
|
CA395055577 rs1391328541 |
175 | E>K | No |
ClinGen gnomAD |
|
|
CA7952325 rs754919790 |
176 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA395055607 rs1282488545 |
176 | C>W | No |
ClinGen TOPMed |
|
|
CA7952328 rs771088076 |
178 | E>K | No |
ClinGen ExAC gnomAD |
|
|
rs1360506456 CA395055654 |
179 | I>M | No |
ClinGen TOPMed gnomAD |
|
|
rs961082263 CA279395918 |
183 | V>A | No |
ClinGen TOPMed |
|
| TCGA novel | 183 | V>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA279395916 rs1037187971 |
183 | V>M | No |
ClinGen TOPMed |
|
|
rs1288958481 CA395055708 |
184 | L>P | No |
ClinGen TOPMed |
|
|
rs1467450112 CA395055720 |
185 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
rs1342922802 CA395055740 |
186 | G>A | No |
ClinGen TOPMed |
|
|
rs898751068 CA279395933 |
190 | S>N | No |
ClinGen gnomAD |
|
| TCGA novel | 191 | F>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs772386202 CA7952332 |
192 | L>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395055833 rs1416925555 |
194 | P>S | No |
ClinGen TOPMed |
|
|
CA7952333 rs528973929 |
195 | D>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA279395940 rs968008319 |
198 | E>K | No |
ClinGen TOPMed |
|
|
CA7952339 rs762203933 |
199 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs762203933 CA7952338 |
199 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
COSM3402173 rs148114778 CA7952336 COSM3402174 |
199 | R>W | Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA395055924 rs1399342192 |
200 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA395055940 rs1336173471 |
201 | P>R | No |
ClinGen gnomAD |
|
|
CA395055935 COSM1493573 rs1394347624 |
201 | P>S | kidney [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
CA7952342 rs142850013 |
202 | R>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs749857064 CA7952340 |
202 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA7952343 rs751201977 |
204 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs754836536 CA279395978 |
205 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs562057404 CA279395981 |
205 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs754836536 CA7952344 |
205 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs1597811078 CA395055992 |
206 | E>A | No |
ClinGen Ensembl |
|
| TCGA novel | 206 | E>G | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7952345 rs377502630 |
206 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395056026 rs1243226478 |
208 | A>D | No |
ClinGen gnomAD |
|
| TCGA novel | 208 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7952347 rs779081096 |
210 | K>E | No |
ClinGen ExAC gnomAD |
|
|
CA395056078 rs1186253882 |
211 | N>K | No |
ClinGen gnomAD |
|
|
CA395056886 rs1283841907 |
214 | A>V | No |
ClinGen gnomAD |
|
|
rs1347378720 CA395056888 |
215 | V>M | No |
ClinGen gnomAD |
|
|
CA395056903 rs1282946545 |
217 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 218 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1217522948 CA395056919 |
219 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1053519576 CA395056938 |
221 | D>E | No |
ClinGen TOPMed |
|
|
rs142693996 RCV001563422 CA7952374 RCV000609365 |
221 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA7952375 rs781620079 |
222 | K>E | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 222 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs770178828 CA7952377 |
224 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
rs763421948 CA7952379 |
225 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770480396 CA7952380 |
226 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
CA7952382 rs759218668 |
228 | Q>L | No |
ClinGen ExAC gnomAD |
|
|
rs1056841301 CA279397244 |
231 | L>V | No |
ClinGen Ensembl |
|
|
rs752551276 CA7952384 |
232 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278393944 CA395057001 |
232 | Y>S | No |
ClinGen gnomAD |
|
|
rs763916468 CA7952386 |
233 | S>C | No |
ClinGen ExAC gnomAD |
|
|
rs763916468 CA279397247 |
233 | S>F | No |
ClinGen ExAC gnomAD |
|
|
CA7952385 rs760446852 |
233 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs1312460445 CA395057024 |
235 | M>V | No |
ClinGen gnomAD |
|
|
rs757210776 CA7952388 |
237 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs1222139385 CA395057059 |
237 | G>R | No |
ClinGen gnomAD |
|
|
rs1490973455 CA395057100 |
240 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA7952389 rs780311907 |
244 | N>D | No |
ClinGen ExAC |
|
|
rs1203066520 CA395057174 |
244 | N>K | No |
ClinGen gnomAD |
|
|
CA279397251 rs945820630 |
244 | N>S | No |
ClinGen Ensembl |
|
|
CA7952390 rs751618666 |
245 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395057214 rs1203597096 |
247 | D>N | No |
ClinGen TOPMed |
|
|
rs1035000402 CA395059281 |
248 | D>E | No |
ClinGen TOPMed gnomAD |
|
|
rs1003220086 CA279401430 |
248 | D>H | No |
ClinGen gnomAD |
|
|
rs1567373714 CA395059277 |
248 | D>V | No |
ClinGen Ensembl |
|
|
CA395059285 rs1295652243 |
249 | S>T | No |
ClinGen TOPMed |
|
|
rs534035515 CA7952414 |
251 | S>T | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs879255431 RCV000238791 CA10586024 |
252 | W>* | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs757776212 CA7952415 |
252 | W>* | No |
ClinGen ExAC gnomAD |
|
|
rs919831242 CA279401441 |
253 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
CA7952416 rs779455970 |
254 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7952418 rs149668552 |
255 | A>E | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs149668552 CA7952417 COSM1637382 |
255 | A>V | Variant assessed as Somatic; 0.0 impact. bone [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs1242524544 CA395059402 |
257 | H>P | No |
ClinGen gnomAD |
|
|
CA395059395 rs1432134571 |
257 | H>Y | No |
ClinGen TOPMed |
|
|
rs960979869 CA279401445 |
258 | L>S | No |
ClinGen Ensembl |
|
|
rs749831041 CA279401447 |
259 | W>L | No |
ClinGen gnomAD |
|
|
rs1476325639 CA395059424 RCV000825411 |
259 | W>R | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
rs749831041 CA395059430 |
259 | W>S | No |
ClinGen gnomAD |
|
|
rs1426375883 CA395059441 |
260 | V>I | No |
ClinGen TOPMed |
|
| TCGA novel | 261 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7952420 rs746670771 |
261 | L>W | No |
ClinGen ExAC gnomAD |
|
|
CA7952421 rs768287123 |
262 | G>D | No |
ClinGen ExAC gnomAD |
|
|
CA395059467 rs1469852497 |
262 | G>R | No |
ClinGen gnomAD |
|
|
CA395059492 rs1399781917 |
264 | Y>H | No |
ClinGen gnomAD |
|
|
rs761754865 CA7952423 |
265 | M>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs907970875 CA279401451 |
265 | M>V | No |
ClinGen TOPMed |
|
|
CA395059517 rs1466626189 |
266 | V>F | No |
ClinGen Ensembl |
|
|
CA7952424 rs765116815 |
268 | L>V | No |
ClinGen ExAC gnomAD |
|
|
rs201002358 CA7952426 |
269 | S>* | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA7952425 rs201002358 |
269 | S>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD |
|
CA395059545 rs1345503594 |
271 | E>K | No |
ClinGen gnomAD |
|
|
CA7952428 rs573427535 |
272 | E>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7952429 rs145435704 |
274 | T>M | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs376097378 CA279401461 |
276 | I>M | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs367708830 CA7952432 |
278 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA gnomAD |
|
CA395059601 rs1268019146 |
279 | I>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA7952433 rs757686492 |
279 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA395059606 rs1405753421 |
280 | E>Q | No |
ClinGen TOPMed |
|
|
rs375255488 CA7952449 |
281 | I>T | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1181976517 CA395059770 |
281 | I>V | No |
ClinGen TOPMed gnomAD |
|
|
rs764155736 CA7952450 |
282 | G>E | No |
ClinGen ExAC gnomAD |
|
|
rs727503348 CA177526 RCV000151581 |
284 | F>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA395059859 rs1597821639 |
287 | Y>S | No |
ClinGen Ensembl |
|
|
CA7952451 rs569686799 |
288 | D>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 289 | N>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395059915 rs1425745774 COSM968492 |
290 | A>T | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
rs765620510 CA7952453 |
290 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1483491320 CA395059941 |
291 | T>I | No |
ClinGen TOPMed |
|
|
rs368330662 CA7952454 |
292 | K>R | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368330662 CA395059955 |
292 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7952457 COSM3957324 rs752002752 COSM3957325 |
296 | M>I | lung [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA279401978 rs200865206 |
296 | M>V | No |
ClinGen Ensembl |
|
|
rs754571974 CA7952458 |
297 | V>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7952459 rs754571974 |
297 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279401982 rs754251005 |
298 | Y>C | No |
ClinGen Ensembl |
|
|
rs1249528514 CA395060148 |
302 | P>H | No |
ClinGen gnomAD |
|
|
rs1246804822 CA395060141 |
302 | P>T | No |
ClinGen gnomAD |
|
|
rs1567375481 CA395060170 |
303 | E>V | No |
ClinGen Ensembl |
|
|
rs202189845 CA279401984 |
304 | L>R | No |
ClinGen 1000Genomes gnomAD |
|
| TCGA novel | 305 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395060216 rs1288292297 COSM1286926 |
306 | Q>* | autonomic_ganglia Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed |
|
CA7952461 rs769534810 |
306 | Q>R | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA395060238 rs777719065 |
307 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395060231 rs1362233854 |
307 | A>S | No |
ClinGen gnomAD |
|
|
rs777719065 CA7952462 |
307 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs770619636 CA7952464 |
310 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395060312 rs1167425784 |
311 | R>S | No |
ClinGen gnomAD |
|
|
CA395060394 rs1371775867 |
316 | N>S | No |
ClinGen gnomAD |
|
|
CA279401990 rs867166656 |
319 | M>L | No |
ClinGen TOPMed |
|
|
CA395060458 rs867166656 |
319 | M>V | No |
ClinGen TOPMed |
|
|
CA7952466 rs538900934 |
321 | N>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768775040 CA7952467 |
322 | T>P | No |
ClinGen ExAC gnomAD |
|
|
CA7952468 rs776650508 |
323 | S>P | No |
ClinGen ExAC |
|
|
CA395060555 rs776650508 |
323 | S>T | No |
ClinGen ExAC |
|
|
rs762025407 CA7952469 |
324 | T>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395060584 rs762025407 |
324 | T>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395060602 rs1383874599 |
325 | I>T | No |
ClinGen gnomAD |
|
|
CA7952470 rs373103963 |
329 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1325744501 CA395060675 |
330 | H>P | No |
ClinGen gnomAD |
|
|
CA395060680 rs1228094624 |
330 | H>Q | No |
ClinGen gnomAD |
|
|
rs1259971945 CA395060722 |
333 | W>* | No |
ClinGen gnomAD |
|
|
CA7952472 rs763441237 |
333 | W>* | No |
ClinGen ExAC gnomAD |
|
|
CA395060744 rs1202564582 |
335 | L>M | No |
ClinGen gnomAD |
|
|
rs553929804 CA395060757 |
336 | E>* | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs752154962 CA7952474 |
336 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs553929804 CA7952473 |
336 | E>K | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs755496474 CA7952475 |
339 | P>L | No |
ClinGen ExAC gnomAD |
|
|
CA395060800 rs1428339467 |
341 | M>L | No |
ClinGen gnomAD |
|
|
rs780882111 CA7952476 |
341 | M>T | No |
ClinGen ExAC gnomAD |
|
|
rs752051726 CA7952517 |
343 | G>E | No |
ClinGen ExAC gnomAD |
|
|
CA7952519 rs371751114 |
346 | V>A | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7952520 rs746970108 |
347 | C>Y | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 348 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
COSM1376620 CA7952521 rs754830603 COSM1376621 |
349 | Y>C | Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA gnomAD |
|
rs145119450 CA7952522 |
350 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1241601709 CA395061232 |
353 | E>A | No |
ClinGen gnomAD |
|
|
rs749270731 CA7952523 |
356 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1597824772 RCV000825994 CA395061266 |
356 | D>H | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA279402758 rs902897802 |
357 | A>G | No |
ClinGen TOPMed |
|
|
CA7952524 rs771031031 |
359 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA395061320 rs1169074010 |
360 | A>D | No |
ClinGen gnomAD |
|
|
CA7952525 rs559229159 |
360 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1429567593 CA395061373 |
364 | L>P | No |
ClinGen gnomAD |
|
|
rs1286798511 CA395061424 |
367 | M>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
CA395061417 rs1478880183 |
367 | M>L | No |
ClinGen TOPMed |
|
|
CA7952527 rs746061127 |
367 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395061436 rs1197996712 |
368 | I>T | No |
ClinGen TOPMed |
|
|
CA279402763 rs1007927807 |
370 | C>R | No |
ClinGen TOPMed |
|
|
CA7952529 COSM1478620 COSM1478621 rs548486726 |
372 | H>L | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
rs1207597323 CA395061532 |
375 | G>S | No |
ClinGen TOPMed |
|
|
rs1381926617 COSM3817489 CA395061540 COSM3817488 COSM3817490 |
375 | G>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs1258019420 CA395061550 |
377 | Q>* | No |
ClinGen gnomAD |
|
|
rs1567377815 CA395061554 |
377 | Q>R | No |
ClinGen Ensembl |
|
|
rs370590643 CA7952531 RCV000275404 |
378 | A>T | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
CA7952532 rs199538778 |
379 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7952533 rs764772897 |
380 | V>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7952534 rs750124840 |
382 | K>E | No |
ClinGen ExAC gnomAD |
|
|
RCV000156913 rs727505354 CA185832 |
384 | K>R | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1400563170 CA395061987 |
388 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1301889888 CA395062017 |
390 | I>T | No |
ClinGen gnomAD |
|
|
CA7952555 rs751212473 |
390 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs375959378 CA7952556 |
391 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395062040 rs1276817264 |
392 | M>V | No |
ClinGen gnomAD |
|
|
rs1597829656 CA395062064 |
393 | E>Q | No |
ClinGen Ensembl |
|
|
CA7952558 rs752630391 |
394 | N>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395062087 rs1300545617 |
394 | N>S | No |
ClinGen TOPMed |
|
|
RCV000155618 CA183146 RCV001668318 rs377581131 |
395 | Q>E | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
rs781741494 CA7952559 |
398 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395062169 rs1266663095 |
399 | E>G | No |
ClinGen gnomAD |
|
|
CA395062207 rs1200385682 |
402 | G>D | No |
ClinGen gnomAD |
|
|
CA395062212 rs1230749523 |
403 | S>T | No |
ClinGen gnomAD |
|
|
rs780487681 COSM1218970 CA7952562 |
403 | S>Y | large_intestine [Cosmic] | No |
ClinGen cosmic curated ExAC gnomAD |
|
CA279403723 rs727504599 |
405 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395062268 rs1597829743 |
406 | D>E | No |
ClinGen Ensembl |
|
| TCGA novel | 409 | V>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395062317 rs1421946421 |
410 | G>A | No |
ClinGen gnomAD |
|
|
CA7952564 rs781571466 |
411 | L>W | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 414 | S>I | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395062369 rs1265021979 |
414 | S>N | No |
ClinGen TOPMed |
|
|
CA279403727 rs868568322 |
418 | S>F | No |
ClinGen Ensembl |
|
|
CA7952565 rs748632820 |
419 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA395062460 rs1567381052 |
420 | S>F | No |
ClinGen Ensembl |
|
|
CA7952567 rs772723589 |
421 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000733282 rs368791022 CA7952569 |
422 | E>K | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs773915915 CA7952570 |
424 | V>M | No |
ClinGen ExAC gnomAD |
|
|
CA7952571 rs759207766 |
425 | H>R | No |
ClinGen ExAC gnomAD |
|
|
CA7952573 rs775318682 |
426 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA395062548 rs1157998277 |
427 | A>P | No |
ClinGen Ensembl |
|
|
rs760696070 CA279403738 |
428 | I>F | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395062566 rs1280471181 |
428 | I>N | No |
ClinGen TOPMed |
|
|
CA7952574 rs760696070 |
428 | I>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395062599 rs1432186911 |
430 | T>N | No |
ClinGen TOPMed |
|
|
rs764182550 CA7952575 |
431 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs753820534 CA7952576 |
433 | Q>* | No |
ClinGen ExAC |
|
|
rs1178832016 CA395062629 |
433 | Q>R | No |
ClinGen gnomAD |
|
|
rs758587527 CA7952577 |
434 | V>A | No |
ClinGen ExAC gnomAD |
|
|
rs200689333 CA395062647 |
436 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA7952578 rs200689333 |
436 | G>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA395062655 rs1211629219 |
437 | W>* | No |
ClinGen gnomAD |
|
|
rs751751146 CA7952579 |
439 | K>M | No |
ClinGen ExAC |
|
|
CA395062674 rs1185888264 |
440 | S>N | No |
ClinGen gnomAD |
|
|
rs1458895465 COSM1588341 CA395062687 COSM968493 |
442 | V>I | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
CA395062703 rs1465207618 |
444 | I>T | No |
ClinGen gnomAD |
|
|
CA7952580 rs755186677 |
444 | I>V | No |
ClinGen ExAC gnomAD |
|
|
CA395062709 rs1332276288 RCV000825992 |
445 | L>S | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA395062756 rs1450102766 |
452 | H>Y | No |
ClinGen gnomAD |
|
|
CA395062764 rs1340937598 |
453 | E>A | No |
ClinGen gnomAD |
|
|
CA7952582 rs748486596 |
453 | E>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs893825249 CA279403748 |
454 | K>Q | No |
ClinGen TOPMed |
|
|
CA395063010 RCV000604411 rs1555499893 |
455 | V>A | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs771476051 CA395063007 |
455 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771476051 CA7952606 |
455 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1335100852 CA395063039 |
460 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs369648790 CA7952607 |
460 | N>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1276421471 CA395063078 |
465 | G>R | No |
ClinGen gnomAD |
|
|
CA7952611 rs761846855 |
466 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7952610 rs761846855 RCV000343863 |
466 | A>T | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
CA7952614 rs759730190 |
471 | V>F | No |
ClinGen ExAC gnomAD |
|
|
CA395063113 rs1597835028 |
471 | V>G | No |
ClinGen Ensembl |
|
|
rs759730190 CA395063109 |
471 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs767465520 CA7952615 |
472 | S>C | No |
ClinGen ExAC gnomAD |
|
|
CA395063128 rs1235823838 |
474 | Q>E | No |
ClinGen gnomAD |
|
|
CA395063152 rs1217963594 |
477 | C>Y | No |
ClinGen gnomAD |
|
|
CA7952617 rs760839563 |
479 | M>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395063168 rs760839563 |
479 | M>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs373410323 CA7952618 |
480 | K>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV000757586 rs757720270 CA7952620 |
481 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA395063181 rs757720270 |
481 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7952621 rs376997763 |
481 | R>H | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA395063185 rs1156567813 |
482 | K>E | No |
ClinGen TOPMed gnomAD |
|
|
rs560052632 CA7952622 |
482 | K>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA279404888 rs972057868 |
484 | I>V | No |
ClinGen Ensembl |
|
|
rs919283549 CA279404890 |
485 | S>L | No |
ClinGen TOPMed |
|
| TCGA novel | 488 | L>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7952625 rs747597113 |
489 | R>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395063238 rs1284131666 |
490 | S>N | No |
ClinGen TOPMed |
|
|
CA395063245 rs1346502786 |
491 | A>D | No |
ClinGen TOPMed |
|
|
CA7952627 rs55890908 |
491 | A>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
COSM3402178 COSM3402179 rs572283930 COSM183046 CA7952629 |
492 | V>I | Variant assessed as Somatic; 0.0 impact. large_intestine central_nervous_system prostate [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs773243260 CA7952630 |
494 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs201185187 TCGA novel CA7952631 |
494 | Q>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD NCI-TCGA |
|
CA7952634 rs760895064 |
495 | Y>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7952633 rs775510738 |
495 | Y>F | No |
ClinGen ExAC gnomAD |
|
|
CA7952632 rs772216591 |
495 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
rs764245507 CA7952635 |
496 | V>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395063273 rs764245507 |
496 | V>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374057233 CA7952636 |
497 | S>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs375892589 CA7952638 |
498 | D>N | No |
ClinGen ESP ExAC gnomAD |
|
|
rs750958473 CA7952639 |
499 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA395063329 rs1411476925 |
502 | A>V | No |
ClinGen gnomAD |
|
|
rs1404729951 CA395063372 |
505 | Q>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1404729951 CA395063374 |
505 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
rs758787204 CA395063391 |
506 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7952640 rs758787204 |
506 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs758787204 CA395063393 |
506 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395063403 rs1382871286 |
507 | I>N | No |
ClinGen TOPMed |
|
| TCGA novel | 508 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7952641 rs370390275 |
509 | S>G | No |
ClinGen ESP ExAC gnomAD |
|
|
CA7952642 rs751055968 |
509 | S>N | No |
ClinGen ExAC gnomAD |
|
|
CA7952669 rs376477475 |
511 | M>I | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs745779517 CA7952668 |
511 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA395063692 rs141037250 |
514 | A>G | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs141037250 CA7952670 COSM3817493 COSM3817491 COSM3817492 |
514 | A>V | Variant assessed as Somatic; 0.0 impact. breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD |
|
rs1170429198 CA395063694 |
515 | E>K | No |
ClinGen gnomAD |
|
|
RCV000605785 CA7952674 rs150415498 RCV001712608 |
522 | V>M | No |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
| TCGA novel | 523 | E>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 524 | I>M | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA279405282 rs886084393 |
524 | I>T | No |
ClinGen TOPMed |
|
|
CA7952675 rs760072031 |
525 | Q>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1418508879 CA395063771 |
526 | G>A | No |
ClinGen gnomAD |
|
|
rs1341199803 CA395063766 |
526 | G>R | No |
ClinGen gnomAD |
|
|
CA7952676 rs142890730 |
527 | A>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7952677 rs142890730 |
527 | A>T | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1597836890 CA395063775 |
527 | A>V | No |
ClinGen Ensembl |
|
|
CA395063789 rs1273234096 |
529 | F>C | No |
ClinGen gnomAD |
|
|
CA7952678 rs760392364 |
531 | E>K | No |
ClinGen ExAC gnomAD |
|
|
CA395063820 rs1001319355 |
534 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
CA279405291 rs1001319355 |
534 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs145044236 CA7952680 |
535 | F>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1215778767 CA395063861 |
539 | R>K | No |
ClinGen gnomAD |
|
|
rs200908561 COSM317774 CA7952681 |
541 | P>T | lung [Cosmic] | No |
ClinGen cosmic curated 1000Genomes ExAC |
|
CA279405293 rs536685371 |
542 | G>E | No |
ClinGen 1000Genomes |
|
|
CA279405295 rs536685371 |
542 | G>V | No |
ClinGen 1000Genomes |
|
|
rs778626297 CA7952682 |
543 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA395063941 rs1196134826 |
545 | S>C | No |
ClinGen gnomAD |
|
|
rs1245705608 CA395063948 |
546 | T>A | No |
ClinGen gnomAD |
|
|
CA7952684 rs758262738 |
546 | T>I | No |
ClinGen ExAC gnomAD |
|
|
rs781342542 CA7952685 |
548 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA279405300 rs980580993 |
548 | L>P | No |
ClinGen Ensembl |
|
|
rs377099769 CA279405303 |
554 | G>R | No |
ClinGen Ensembl |
|
|
rs1321694857 CA395064078 |
556 | S>G | No |
ClinGen gnomAD |
|
|
rs1167205734 CA395064442 |
559 | L>P | No |
ClinGen gnomAD |
|
|
CA395064446 rs1474854075 |
560 | F>L | No |
ClinGen gnomAD |
|
|
CA7952719 rs776048206 |
561 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA7952720 rs761466497 |
562 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs1567387935 CA395064457 |
562 | Y>H | No |
ClinGen Ensembl |
|
|
rs1333356513 CA395064467 |
563 | E>G | No |
ClinGen TOPMed gnomAD |
|
|
CA7952721 rs764924194 |
564 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs772846065 CA7952722 |
564 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA395064518 rs1299509088 |
571 | R>K | No |
ClinGen TOPMed |
|
| TCGA novel | 572 | P>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395064525 rs1462347773 |
572 | P>L | No |
ClinGen TOPMed |
|
| TCGA novel | 573 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751474372 CA7952725 |
575 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1255997881 CA395064550 |
576 | L>* | No |
ClinGen gnomAD |
|
|
rs1240226169 CA395064586 |
580 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
CA395064589 rs1597839280 |
580 | Q>R | No |
ClinGen Ensembl |
|
|
rs1017181428 CA279405805 |
584 | G>A | No |
ClinGen TOPMed |
|
|
CA395064613 rs1384190411 |
584 | G>C | No |
ClinGen Ensembl |
|
|
rs568684216 CA7952747 |
585 | V>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs372104770 CA7952750 |
589 | H>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1286055564 CA395064643 |
589 | H>Y | No |
ClinGen TOPMed |
|
|
rs747460891 CA7952751 |
590 | I>F | No |
ClinGen ExAC |
|
|
rs138853464 CA7952753 |
590 | I>M | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs368537522 CA7952754 |
591 | D>N | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1301600059 CA395064677 |
594 | S>N | No |
ClinGen TOPMed gnomAD |
|
|
CA395064687 rs1160373948 |
595 | T>I | No |
ClinGen TOPMed |
|
|
rs1372179810 CA395064693 |
596 | D>V | No |
ClinGen TOPMed gnomAD |
|
|
CA7952755 rs769314772 |
597 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA7952756 rs375126184 |
599 | L>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7952757 rs748898450 |
600 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA395064724 rs1567388273 |
601 | H>R | No |
ClinGen Ensembl |
|
|
rs770560921 CA7952759 |
604 | D>H | No |
ClinGen ExAC gnomAD |
|
|
rs773864485 CA7952760 |
605 | F>L | No |
ClinGen ExAC gnomAD |
|
|
rs940529270 CA279405819 |
607 | N>K | No |
ClinGen gnomAD |
|
|
rs759444825 CA7952761 |
608 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA7952763 rs775622219 |
610 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7952765 rs765408935 |
612 | L>F | No |
ClinGen ExAC gnomAD |
|
|
CA395064801 rs1347585592 |
612 | L>P | No |
ClinGen gnomAD |
|
|
CA279405828 rs150253836 COSM108202 |
613 | S>L | skin [Cosmic] | No |
ClinGen cosmic curated Ensembl |
|
CA395064810 rs1187235483 |
614 | P>S | No |
ClinGen TOPMed |
|
|
rs1457032135 CA395064819 |
615 | Y>C | No |
ClinGen gnomAD |
|
|
rs1352207095 CA395065196 |
617 | V>A | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs775686301 CA10577004 RCV000223640 RCV001857747 |
617 | V>F | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs775686301 CA7952814 |
617 | V>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs761070551 CA7952815 |
618 | N>D | No |
ClinGen ExAC gnomAD |
|
|
rs868666952 CA279406585 |
628 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA395065300 rs1255265115 |
629 | R>G | No |
ClinGen gnomAD |
|
|
CA7952820 rs764813070 |
629 | R>S | No |
ClinGen ExAC gnomAD |
|
|
rs918377842 CA279406589 |
632 | M>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
rs918377842 CA395065322 |
632 | M>T | No |
ClinGen Ensembl |
|
|
rs1181715768 CA395065327 |
633 | P>T | No |
ClinGen gnomAD |
|
|
CA279406591 rs951255922 |
634 | P>L | No |
ClinGen Ensembl |
|
|
rs750007142 CA7952821 |
636 | L>H | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 639 | A>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs727503351 CA7952822 |
641 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV000151586 rs727503351 RCV001850067 CA177532 |
641 | P>R | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs754519981 CA7952841 |
642 | A>D | No |
ClinGen ExAC gnomAD |
|
|
CA7952840 rs754519981 |
642 | A>G | No |
ClinGen ExAC gnomAD |
|
|
CA7952839 rs751287004 |
642 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs141343424 CA7952842 |
643 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA7952843 rs755933684 |
643 | R>H | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA7952844 rs777729691 |
644 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA395061620 rs1280318611 |
646 | A>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1394158342 CA395061629 |
647 | S>C | No |
ClinGen TOPMed |
|
|
rs772164368 CA7952846 |
649 | P>Q | No |
ClinGen ExAC gnomAD |
|
|
rs749203602 CA7952845 |
649 | P>S | No |
ClinGen ExAC gnomAD |
|
|
RCV001195507 rs780071647 CA7952847 |
650 | A>G | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA7952848 rs200269833 |
651 | S>P | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs768706777 CA7952849 |
653 | C>F | No |
ClinGen ExAC gnomAD |
|
|
rs1194231877 CA395061659 |
653 | C>G | No |
ClinGen gnomAD |
|
|
rs150728892 CA279389997 |
655 | P>T | No |
ClinGen ESP |
|
|
CA7952851 rs372053691 |
657 | L>V | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1376007878 CA395061690 |
658 | I>V | No |
ClinGen gnomAD |
|
|
CA395061710 rs1383667189 |
661 | G>R | No |
ClinGen gnomAD |
|
|
rs200784134 CA7952853 |
663 | S>N | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7952854 rs763489578 |
665 | L>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395061746 rs1362025927 |
666 | D>N | No |
ClinGen gnomAD |
|
|
rs1328560043 CA395061749 |
666 | D>V | No |
ClinGen gnomAD |
|
|
CA395061753 rs1232555232 |
667 | S>T | No |
ClinGen gnomAD |
|
|
CA395061768 rs1427473204 |
669 | V>F | No |
ClinGen TOPMed |
|
|
rs1303236898 CA395061777 |
670 | L>F | No |
ClinGen gnomAD |
|
|
CA395061796 rs1396526871 |
673 | H>R | No |
ClinGen TOPMed |
|
|
rs766019997 CA7952855 |
673 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
rs902760963 CA279390018 |
676 | T>I | No |
ClinGen gnomAD |
|
|
rs999770851 CA279390026 |
677 | S>A | No |
ClinGen Ensembl |
|
|
CA279390029 rs1031928641 |
678 | V>I | No |
ClinGen Ensembl |
|
|
CA7952858 rs759064111 |
679 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs767115680 CA7952859 |
679 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1452280960 CA395061843 |
681 | K>E | No |
ClinGen gnomAD |
|
| TCGA novel | 684 | Q>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395061883 rs1192800722 |
686 | L>P | No |
ClinGen gnomAD |
|
|
rs773673830 CA7952872 |
687 | D>N | No |
ClinGen ExAC gnomAD |
|
|
CA395061922 rs930322780 |
688 | D>G | No |
ClinGen gnomAD |
|
|
rs369405185 CA7952873 |
688 | D>N | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs930322780 CA279390796 |
688 | D>V | No |
ClinGen gnomAD |
|
|
CA395061929 rs1439058328 |
689 | S>T | No |
ClinGen gnomAD |
|
|
CA395061950 rs1373283253 |
690 | I>M | No |
ClinGen gnomAD |
|
|
rs1392001175 CA395061962 |
692 | D>N | No |
ClinGen gnomAD |
|
|
CA7952875 rs774967818 |
693 | E>D | No |
ClinGen ExAC gnomAD |
|
|
rs1341252604 CA395061977 |
693 | E>K | No |
ClinGen TOPMed |
|
| TCGA novel | 694 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs377647690 CA279390809 |
695 | T>I | No |
ClinGen ESP ExAC gnomAD |
|
|
rs767039643 CA7952877 |
695 | T>S | No |
ClinGen ExAC gnomAD |
|
|
rs377647690 CA7952878 |
695 | T>S | No |
ClinGen ESP ExAC gnomAD |
|
|
rs1438602426 CA395062013 |
696 | V>A | No |
ClinGen TOPMed |
|
|
rs1232183406 CA395062034 |
698 | I>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1232183406 CA395062035 |
698 | I>T | No |
ClinGen TOPMed gnomAD |
|
|
rs760306563 CA7952879 |
698 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs763903896 CA7952880 |
699 | M>I | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs1386315730 CA395062071 |
701 | N>K | No |
ClinGen TOPMed |
|
|
CA7952881 rs753577013 |
701 | N>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395062068 rs753577013 |
701 | N>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7952882 rs757019916 |
702 | L>R | No |
ClinGen ExAC gnomAD |
|
|
rs778892020 CA7952883 |
703 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA395062091 rs1419590320 |
704 | C>S | No |
ClinGen gnomAD |
|
| TCGA novel | 704 | C>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs755029973 CA7952885 |
705 | H>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs781268163 CA7952886 |
707 | P>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
| TCGA novel | 708 | A>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395062154 rs1354362549 |
709 | A>V | No |
ClinGen gnomAD |
|
|
rs547350154 CA7952887 |
710 | I>M | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
| TCGA novel | 710 | I>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs756356793 CA7952888 |
711 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs113676735 CA279390842 |
711 | I>V | No |
ClinGen Ensembl |
|
|
rs1414247536 CA395062179 |
712 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA395062178 rs1414247536 |
712 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1381645905 CA395062208 |
714 | G>A | No |
ClinGen gnomAD |
|
|
CA395062203 CA7952890 rs749710616 |
714 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA395062217 rs1160769375 |
715 | I>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7952892 rs774777334 |
716 | S>P | No |
ClinGen ExAC gnomAD |
|
|
CA395062225 rs774777334 |
716 | S>T | No |
ClinGen ExAC gnomAD |
|
|
rs746326408 CA7952893 |
718 | R>K | No |
ClinGen ExAC |
|
|
rs771484542 CA7952894 |
719 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7952895 rs775022169 |
721 | A>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395062291 rs1295837458 |
722 | T>S | No |
ClinGen gnomAD |
|
|
rs201907941 CA7952901 |
725 | H>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs761657472 CA7952898 |
725 | H>R | No |
ClinGen ExAC TOPMed |
|
|
CA7952897 rs776265737 |
725 | H>Y | No |
ClinGen ExAC gnomAD |
|
|
COSM1649209 CA395062332 rs866105290 COSM557210 |
726 | G>C | lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA TOPMed gnomAD |
|
rs866105290 CA395062330 |
726 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
COSM183049 rs866105290 CA279390918 |
726 | G>S | large_intestine [Cosmic] | No |
ClinGen cosmic curated TOPMed gnomAD |
|
rs758317494 CA7952902 |
729 | D>A | No |
ClinGen ExAC TOPMed gnomAD |
|
| TCGA novel | 729 | D>E | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA10607036 rs886044667 RCV000303562 |
730 | C>* | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA7952903 rs767518359 |
732 | D>G | No |
ClinGen ExAC gnomAD |
|
|
rs1313592548 CA395062438 CA395062436 |
734 | N>K | No |
ClinGen TOPMed gnomAD |
|
|
rs752872020 CA7952904 |
735 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs969209773 CA279390940 |
737 | Q>* | No |
ClinGen TOPMed |
|
|
CA395062490 rs1269901207 |
739 | A>D | No |
ClinGen gnomAD |
|
|
rs1230355735 CA395062498 |
740 | A>T | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
|
rs1416547065 CA395062527 |
742 | R>S | No |
ClinGen TOPMed |
|
|
rs778206776 CA7952906 |
744 | K>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395062555 rs1280102092 |
745 | L>I | No |
ClinGen gnomAD |
|
| TCGA novel | 747 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7952908 rs757707448 |
747 | G>R | No |
ClinGen ExAC gnomAD |
|
|
CA7952909 rs779268091 |
748 | Q>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746390617 CA7952910 |
749 | Y>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA185114 rs727505120 RCV000156577 |
755 | W>S | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA7952928 rs780672706 |
756 | T>K | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395062831 rs1567396683 |
757 | A>S | No |
ClinGen Ensembl |
|
|
rs1393457048 CA395062837 |
758 | E>K | No |
ClinGen gnomAD |
|
|
rs768161528 COSM163204 CA7952930 COSM1318601 |
760 | T>M | Variant assessed as Somatic; 0.0 impact. haematopoietic_and_lymphoid_tissue breast [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA7952931 rs747822531 |
763 | L>F | No |
ClinGen ExAC gnomAD |
|
|
rs1179354877 CA395062877 CA395062876 |
764 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1405171702 CA395062884 |
765 | P>S | No |
ClinGen TOPMed |
|
|
rs1351852665 CA395062895 |
766 | F>L | No |
ClinGen gnomAD |
|
|
CA395062901 rs1272225615 |
768 | V>I | No |
ClinGen gnomAD |
|
| TCGA novel | 770 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1334549184 CA395062935 |
773 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA395062933 rs1334549184 |
773 | D>N | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 773 | D>Y | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395062957 rs1355073289 |
776 | S>G | No |
ClinGen TOPMed |
|
|
CA395062968 rs1210834148 |
777 | S>C | No |
ClinGen gnomAD |
|
|
rs772709695 CA7952933 |
778 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1252613939 CA395062981 |
779 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs762873786 CA7952935 |
780 | T>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7952936 rs770617893 |
781 | K>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7952953 rs769182891 RCV000825412 |
783 | P>S | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1252199445 CA395063343 CA395063342 |
784 | E>D | No |
ClinGen TOPMed |
|
|
CA395063375 rs1375577876 |
787 | L>P | No |
ClinGen gnomAD |
|
|
rs748833245 CA7952955 |
790 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs774246174 CA7952957 |
792 | K>Q | No |
ClinGen ExAC gnomAD |
|
|
rs1232788274 CA395063444 |
793 | M>T | No |
ClinGen TOPMed gnomAD |
|
|
CA7952959 rs772182297 |
798 | P>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA |
|
rs464696 CA7952961 |
799 | T>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1278184921 CA395063489 |
799 | T>S | No |
ClinGen TOPMed |
|
|
rs376962324 CA7952962 |
802 | F>L | No |
ClinGen ESP ExAC gnomAD |
|
|
CA395063522 rs1207306013 |
804 | W>* | No |
ClinGen gnomAD |
|
|
CA7952964 rs766756328 |
805 | A>T | No |
ClinGen ExAC gnomAD |
|
|
CA395063532 rs1189014546 |
805 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA395063536 rs1452476535 |
806 | V>A | No |
ClinGen gnomAD |
|
|
rs919635153 CA279393658 |
806 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs751970929 CA7952965 |
807 | F>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs143890524 CA7952967 |
808 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs1377697278 CA395063550 |
808 | Q>L | No |
ClinGen gnomAD |
|
|
rs1377697278 CA395063549 |
808 | Q>R | No |
ClinGen gnomAD |
|
|
CA395063556 rs1286701265 |
809 | S>C | No |
ClinGen gnomAD |
|
| TCGA novel | 809 | S>F | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395063560 rs1381968619 |
810 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs1381968619 CA395063558 |
810 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1367854479 CA395063567 |
811 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA7952969 COSM283650 COSM1588332 rs755663127 |
811 | R>W | Variant assessed as Somatic; 0.0 impact. large_intestine endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 813 | S>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs777080801 CA7952970 |
813 | S>N | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA395063576 rs1439324904 |
813 | S>R | No |
ClinGen gnomAD |
|
|
rs1312777887 CA395063584 |
814 | S>G | No |
ClinGen gnomAD |
|
| TCGA novel | 815 | D>H | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA7952971 rs540099158 |
816 | K>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA7952972 rs756809187 |
817 | I>N | No |
ClinGen ExAC gnomAD |
|
|
CA395063609 rs756809187 |
817 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs112761490 CA7952973 |
818 | P>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs142967651 CA279393692 |
818 | P>L | No |
ClinGen ESP TOPMed |
|
|
rs112761490 CA279393685 |
818 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs464691 CA7952975 |
820 | Y>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
RCV001558864 rs464691 RCV000220320 CA7952974 |
820 | Y>S | No |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
|
rs141242505 CA395063635 |
821 | D>E | No |
ClinGen ESP TOPMed gnomAD |
|
|
rs746858630 CA7952977 |
822 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs746858630 CA7952978 |
822 | P>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7952976 rs775622617 |
822 | P>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs775622617 CA395063637 |
822 | P>T | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1466394135 CA395063644 |
823 | M>R | No |
ClinGen TOPMed |
|
|
CA7952979 rs773119835 |
823 | M>V | No |
ClinGen ExAC gnomAD |
|
|
rs1212865360 CA395064876 |
892 | P>S | No |
ClinGen gnomAD |
|
|
rs1265914943 CA395064930 |
899 | H>R | No |
ClinGen TOPMed gnomAD |
|
|
CA395064941 rs1555503241 |
901 | V>I | No |
ClinGen Ensembl |
|
|
CA395064966 rs1489402429 |
905 | R>C | No |
ClinGen gnomAD |
|
|
rs1175457711 CA395064967 |
905 | R>H | No |
ClinGen gnomAD |
|
|
rs1249189847 CA395065066 |
920 | L>F | No |
ClinGen gnomAD |
|
|
rs1472670335 CA395065199 |
937 | P>L | No |
ClinGen gnomAD |
|
|
rs1415229558 CA395065223 |
939 | Q>L | No |
ClinGen gnomAD |
|
|
rs1457555304 CA395065377 |
940 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
CA395065431 rs1597867948 |
945 | Q>H | No |
ClinGen Ensembl |
|
|
rs954136045 CA279395459 |
946 | G>A | No |
ClinGen TOPMed gnomAD |
|
|
rs954136045 CA395065435 |
946 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA395065444 rs1227996309 |
947 | Y>* | No |
ClinGen gnomAD |
|
|
rs866062184 CA279395461 |
949 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
CA395065470 rs1202349886 |
951 | S>L | No |
ClinGen gnomAD |
|
|
rs1254434273 CA395065486 |
954 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
rs1254434273 CA395065485 |
954 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1325861120 CA395065540 |
961 | F>Y | No |
ClinGen TOPMed |
|
|
CA395065589 rs1250693747 |
968 | A>V | No |
ClinGen gnomAD |
|
|
rs984204457 CA279395466 |
971 | C>R | No |
ClinGen TOPMed |
|
|
CA395065622 rs1483063730 |
974 | N>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1206709368 CA395065631 |
975 | I>F | No |
ClinGen gnomAD |
|
|
rs1254830138 CA395065659 |
979 | P>S | No |
ClinGen gnomAD |
|
|
rs1474663586 CA395065668 |
980 | L>R | No |
ClinGen TOPMed gnomAD |
|
|
CA395065689 rs1182145793 |
983 | I>S | No |
ClinGen gnomAD |
|
|
CA279395469 rs554398224 |
984 | S>L | No |
ClinGen 1000Genomes gnomAD |
|
|
CA395065714 rs1168082135 |
987 | R>K | No |
ClinGen TOPMed |
|
|
CA395065730 rs1185178266 |
987 | R>S | No |
ClinGen gnomAD |
|
|
rs1597868374 CA395065736 |
988 | V>G | No |
ClinGen Ensembl |
|
|
CA7953007 rs759686971 |
990 | V>E | No |
ClinGen ExAC gnomAD |
|
|
CA395065773 rs1450609160 |
994 | G>E | No |
ClinGen TOPMed gnomAD |
|
|
CA7953009 rs775666721 |
996 | L>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1176983164 CA395065787 |
997 | L>P | No |
ClinGen gnomAD |
|
|
rs761077251 CA7953011 |
1001 | H>R | No |
ClinGen ExAC gnomAD |
|
|
rs1365733689 CA395065819 |
1002 | V>I | No |
ClinGen gnomAD |
|
|
CA7953013 rs754362371 |
1005 | E>K | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
| TCGA novel | 1007 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395065863 rs1486855473 |
1008 | R>K | No |
ClinGen TOPMed |
|
|
rs538995144 CA7953016 |
1015 | G>E | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1314735423 CA395065915 |
1016 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs1314735423 CA395065917 |
1016 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
rs1334643694 CA395065929 |
1018 | T>P | No |
ClinGen TOPMed |
|
|
rs1207765716 CA395065940 |
1019 | E>V | No |
ClinGen gnomAD |
|
|
rs1247777931 CA395065950 |
1020 | W>C | No |
ClinGen gnomAD |
|
|
CA395065965 rs1465682902 |
1022 | S>R | No |
ClinGen gnomAD |
|
|
rs1191876890 CA395066012 |
1029 | G>V | No |
ClinGen gnomAD |
|
|
rs758079361 CA7953017 |
1031 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs547739910 CA7953037 |
1038 | A>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs751212537 CA7953038 |
1038 | A>V | No |
ClinGen ExAC |
|
|
rs754742971 CA7953039 |
1039 | E>A | No |
ClinGen ExAC gnomAD |
|
|
rs1484148637 CA395066089 |
1040 | L>F | No |
ClinGen TOPMed gnomAD |
|
|
rs559668017 CA7953042 |
1041 | R>Q | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs752661980 CA7953041 |
1041 | R>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA7953043 rs777662575 |
1042 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs1164864556 CA395066097 |
1042 | M>L | No |
ClinGen TOPMed gnomAD |
|
|
CA7953044 rs745986943 |
1044 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs772184145 CA7953045 |
1046 | D>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs267604455 CA279395845 |
1046 | D>N | No |
ClinGen Ensembl |
|
|
rs1371921629 CA395066149 |
1049 | P>S | No |
ClinGen gnomAD |
|
|
CA395066157 rs1333103379 |
1050 | Y>C | No |
ClinGen gnomAD |
|
|
CA395066173 rs1323292542 |
1052 | Q>R | No |
ClinGen TOPMed |
|
|
rs1246016565 CA395066179 |
1053 | P>S | No |
ClinGen gnomAD |
|
| TCGA novel | 1054 | S>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 1057 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395066202 rs1398149139 |
1057 | K>Q | No |
ClinGen TOPMed |
|
|
rs1340622636 CA395066217 |
1058 | C>W | No |
ClinGen TOPMed gnomAD |
|
|
CA7953050 rs777008312 |
1061 | D>E | No |
ClinGen ExAC gnomAD |
|
|
rs1555503821 CA395066239 |
1062 | E>* | No |
ClinGen Ensembl |
|
|
rs1344488271 CA395066249 |
1063 | I>T | No |
ClinGen gnomAD |
|
|
rs762249373 CA7953051 |
1063 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs770467609 CA7953052 |
1064 | F>L | No |
ClinGen ExAC gnomAD |
|
|
CA395066258 rs1255750781 |
1065 | K>Q | No |
ClinGen gnomAD |
|
|
CA395066286 rs1255585424 |
1067 | L>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1365557089 CA395066296 |
1068 | S>F | No |
ClinGen TOPMed |
|
|
CA395066297 rs1202449586 |
1069 | A>T | No |
ClinGen gnomAD |
|
|
CA395066317 rs1163058332 |
1071 | Q>H | No |
ClinGen TOPMed |
|
|
rs1265992594 CA395066331 |
1073 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA395066336 rs1464276640 |
1074 | S>C | No |
ClinGen gnomAD |
|
|
CA395066338 rs1189071642 |
1075 | L>V | No |
ClinGen gnomAD |
|
|
CA395066344 rs1430912932 |
1076 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA395066352 rs1377749598 |
1077 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1244945141 CA395066377 |
1081 | A>T | No |
ClinGen TOPMed |
|
|
rs1206274288 CA395066382 |
1081 | A>V | No |
ClinGen TOPMed |
|
|
rs1467252316 CA395066389 |
1083 | V>M | No |
ClinGen TOPMed gnomAD |
|
|
rs1156594408 CA395066407 |
1085 | H>Q | No |
ClinGen TOPMed gnomAD |
|
|
CA395066423 rs1597872037 |
1088 | R>S | No |
ClinGen Ensembl |
|
|
rs1457054068 CA395066429 |
1089 | R>G | No |
ClinGen TOPMed gnomAD |
|
|
CA395066432 rs1292292458 |
1089 | R>P | No |
ClinGen TOPMed |
|
|
rs1292292458 CA395066431 |
1089 | R>Q | No |
ClinGen TOPMed |
|
|
CA395066430 rs1457054068 |
1089 | R>W | No |
ClinGen TOPMed gnomAD |
|
|
CA395066436 rs1328654929 |
1090 | R>Q | No |
ClinGen TOPMed |
|
|
CA395066446 rs1368009656 |
1092 | S>G | No |
ClinGen TOPMed gnomAD |
|
|
CA395066448 rs1176471477 |
1092 | S>N | No |
ClinGen TOPMed |
|
|
rs1385629909 CA395066452 |
1092 | S>R | No |
ClinGen gnomAD |
|
|
rs1479827437 CA395066462 |
1094 | L>P | No |
ClinGen TOPMed |
|
|
rs1422902735 CA395066500 |
1100 | Q>K | No |
ClinGen TOPMed |
|
|
CA395066507 rs1331812219 |
1101 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
rs1235692060 CA395066518 |
1102 | A>E | No |
ClinGen gnomAD |
|
|
rs1597872109 CA395066529 |
1104 | D>V | No |
ClinGen Ensembl |
|
|
CA395066542 rs1232060586 |
1106 | A>S | No |
ClinGen TOPMed |
|
|
CA279396442 rs62045988 |
1108 | T>I | No |
ClinGen TOPMed gnomAD |
|
|
rs938600255 CA279396449 |
1110 | S>T | No |
ClinGen TOPMed |
|
|
CA395066578 rs1224125831 |
1111 | W>* | No |
ClinGen TOPMed |
|
|
rs1311668615 CA395066591 |
1113 | D>Y | No |
ClinGen TOPMed |
|
|
CA395066600 rs1269825997 |
1114 | A>V | No |
ClinGen gnomAD |
|
|
CA395066606 rs1487450600 |
1115 | P>H | No |
ClinGen TOPMed gnomAD |
|
|
CA395066608 rs1487450600 |
1115 | P>L | No |
ClinGen TOPMed gnomAD |
|
|
CA395066612 rs1407760133 |
1116 | A>D | No |
ClinGen TOPMed |
|
|
CA395066609 rs1267428492 |
1116 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA395066615 rs1336999957 |
1117 | S>R | No |
ClinGen TOPMed |
|
|
CA395066623 rs1469019349 |
1118 | A>T | No |
ClinGen TOPMed |
|
|
CA395066630 rs1179502790 |
1119 | G>C | No |
ClinGen TOPMed gnomAD |
|
|
CA395066631 rs1179502790 |
1119 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
rs1407188336 CA395066636 |
1120 | P>S | No |
ClinGen TOPMed |
|
|
CA395066635 rs1407188336 |
1120 | P>T | No |
ClinGen TOPMed |
|
|
CA395066641 rs1410802054 |
1121 | T>P | No |
ClinGen gnomAD |
|
|
rs1446228267 CA395066657 |
1123 | T>N | No |
ClinGen TOPMed |
|
|
CA395066664 rs1472447739 |
1124 | S>* | No |
ClinGen TOPMed gnomAD |
|
|
rs1284650466 CA395066676 |
1126 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1347367733 CA395066682 |
1127 | R>P | No |
ClinGen gnomAD |
|
|
CA279396463 rs915744429 |
1128 | S>F | No |
ClinGen TOPMed |
|
|
CA279396460 rs993094389 |
1128 | S>P | No |
ClinGen TOPMed |
|
|
CA279396465 rs948175695 |
1130 | A>S | No |
ClinGen TOPMed gnomAD |
|
|
rs948175695 CA395066694 |
1130 | A>T | No |
ClinGen TOPMed gnomAD |
|
|
CA395066714 rs1226156217 |
1131 | G>E | No |
ClinGen gnomAD |
|
|
CA395066699 rs1316250809 |
1131 | G>R | No |
ClinGen TOPMed |
|
|
rs1461905781 CA395066717 |
1132 | A>T | No |
ClinGen Ensembl |
|
|
CA395066728 rs1273268922 |
1133 | L>H | No |
ClinGen TOPMed gnomAD |
|
|
CA395066726 rs1273268922 |
1133 | L>P | No |
ClinGen TOPMed gnomAD |
|
|
CA395066731 rs1342340794 |
1134 | Q>* | No |
ClinGen gnomAD |
|
|
rs770380639 CA7953074 |
1135 | S>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs372758319 CA7953073 |
1135 | S>T | No |
ClinGen ESP ExAC gnomAD |
|
| TCGA novel | 1136 | W>C | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA395066755 rs1257357468 |
1137 | G>D | No |
ClinGen gnomAD |
|
|
CA395066750 rs1181606108 COSM135701 |
1137 | G>S | skin [Cosmic] | No |
ClinGen cosmic curated gnomAD |
|
rs1446958140 CA395066763 |
1139 | W>R | No |
ClinGen TOPMed gnomAD |
|
|
CA177536 rs568139514 RCV001375420 RCV000151589 |
1140 | L>P | No |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
|
CA395066777 rs767239790 |
1141 | G>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1001451397 CA279397254 |
1141 | G>D | No |
ClinGen TOPMed |
|
|
rs767239790 CA7953076 |
1141 | G>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs767239790 CA395066776 |
1141 | G>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1476866280 CA395066789 |
1143 | P>S | No |
ClinGen TOPMed |
|
|
rs545045757 CA7953077 |
1147 | L>V | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs760518631 CA7953078 |
1148 | M>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs763815583 CA7953079 |
1149 | A>T | No |
ClinGen ExAC gnomAD |
|
|
rs1447630021 CA395066831 |
1150 | K>M | No |
ClinGen gnomAD |
|
|
rs1303192542 CA395066837 |
1151 | L>F | No |
ClinGen gnomAD |
|
| TCGA novel | 1151 | L>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs144955773 CA7953080 |
1153 | W>* | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD |
|
rs144955773 CA395066852 |
1153 | W>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs893362230 CA279397260 |
1153 | W>L | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA919674208 rs1567412552 |
1154 | W>= | No |
ClinGen Ensembl |
1 associated diseases with Q7RTW8
[MIM: 607039]: Deafness, autosomal recessive, 22 (DFNB22)
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:11972037}. Note=The disease is caused by variants affecting the gene represented in this entry.
Without disease ID
- A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:11972037}. Note=The disease is caused by variants affecting the gene represented in this entry.
No regional properties for Q7RTW8
| Type | Name | Position | InterPro Accession |
|---|---|---|---|
| No domain, repeats, and functional sites for Q7RTW8 | |||
Functions
5 GO annotations of cellular component
| Name | Definition |
|---|---|
| anchored component of membrane | The component of a membrane consisting of the gene products that are tethered to the membrane only by a covalently attached anchor, such as a lipid group that is embedded in the membrane. Gene products with peptide sequences that are embedded in the membrane are excluded from this grouping. |
| apical plasma membrane | The region of the plasma membrane located at the apical end of the cell. |
| cell surface | The external part of the cell wall and/or plasma membrane. |
| extracellular region | The space external to the outermost structure of a cell. For cells without external protective or external encapsulating structures this refers to space outside of the plasma membrane. This term covers the host cell environment outside an intracellular parasite. |
| plasma membrane | The membrane surrounding a cell that separates the cell from its external environment. It consists of a phospholipid bilayer and associated proteins. |
No GO annotations of molecular function
| Name | Definition |
|---|---|
| No GO annotations for molecular function |
3 GO annotations of biological process
| Name | Definition |
|---|---|
| cell-matrix adhesion | The binding of a cell to the extracellular matrix via adhesion molecules. |
| sensory perception of sound | The series of events required for an organism to receive an auditory stimulus, convert it to a molecular signal, and recognize and characterize the signal. Sonic stimuli are detected in the form of vibrations and are processed to form a sound. |
| transmission of nerve impulse | The neurological system process in which a signal is transmitted through the nervous system by a combination of action potential propagation and synaptic transmission. |
1 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q8K561 | Otoa | Otoancorin | Mus musculus (Mouse) | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MSQEPTTYSL | FLFLFLSHGV | SSYTVPNSRQ | DLHPLLQNMA | EEIIDGSYLN | ALLDLIQFQS |
| 70 | 80 | 90 | 100 | 110 | 120 |
| SHVWTDDLSH | RVLAYLNSRN | VAFTIPSLQA | AVENHLEQRL | HQPQKLLEDL | RKTDAQQFRT |
| 130 | 140 | 150 | 160 | 170 | 180 |
| AMKCLLEDKK | DGLDLKDIII | DLGEIRERAL | QSPGVNRSLF | LITLERCFQM | LNSLECVEIL |
| 190 | 200 | 210 | 220 | 230 | 240 |
| GKVLRGSSGS | FLQPDITERL | PRDLREDAFK | NLSAVFKDLY | DKTSAHSQRA | LYSWMTGILQ |
| 250 | 260 | 270 | 280 | 290 | 300 |
| TSSNATDDSA | SWVSAEHLWV | LGRYMVHLSF | EEITKISPIE | IGLFISYDNA | TKQLDMVYDI |
| 310 | 320 | 330 | 340 | 350 | 360 |
| TPELAQAFLE | RISSSNFNMR | NTSTIHRQAH | ELWALEPFPK | MLGLLVCFYN | DLELLDATVA |
| 370 | 380 | 390 | 400 | 410 | 420 |
| QVLLYQMIKC | SHLRGFQAGV | QKLKAELLDI | AMENQTLNET | LGSLSDAVVG | LTYSQLESLS |
| 430 | 440 | 450 | 460 | 470 | 480 |
| PEAVHGAIST | LNQVSGWAKS | QVIILSAKYL | AHEKVLSFYN | VSQMGALLAG | VSTQAFCSMK |
| 490 | 500 | 510 | 520 | 530 | 540 |
| RKDISQVLRS | AVSQYVSDLS | PAQQQGILSK | MVQAEDTAPG | IVEIQGAFFK | EVSLFDLRRQ |
| 550 | 560 | 570 | 580 | 590 | 600 |
| PGFNSTVLKD | KELGRSQALF | LYELLLKTTR | RPEELLSAGQ | LVKGVTCSHI | DAMSTDFFLA |
| 610 | 620 | 630 | 640 | 650 | 660 |
| HFQDFQNNFA | LLSPYQVNCL | AWKYWEVSRL | SMPPFLLAAL | PARYLASVPA | SQCVPFLISL |
| 670 | 680 | 690 | 700 | 710 | 720 |
| GKSWLDSLVL | DSHKKTSVLR | KVQQCLDDSI | ADEYTVDIMG | NLLCHLPAAI | IDRGISPRAW |
| 730 | 740 | 750 | 760 | 770 | 780 |
| ATALHGLRDC | PDLNPEQKAA | VRLKLLGQYG | LPQHWTAETT | KDLGPFLVLF | SGDELSSIAT |
| 790 | 800 | 810 | 820 | 830 | 840 |
| KFPEILLQAA | SKMARTLPTK | EFLWAVFQSV | RNSSDKIPSY | DPMPGCHGVV | APSSDDIFKL |
| 850 | 860 | 870 | 880 | 890 | 900 |
| AEANACWALE | DLRCMEEDTF | IRTVELLGAV | QGFSRPQLMT | LKEKAIQVWD | MPSYWREHHI |
| 910 | 920 | 930 | 940 | 950 | 960 |
| VSLGRIALAL | NESELEQLDL | SSIDTVASLS | WQTEWTPGQA | ESILQGYLDD | SGYSIQDLKS |
| 970 | 980 | 990 | 1000 | 1010 | 1020 |
| FHLVGLGATL | CAINITEIPL | IKISEFRVVV | ARIGTLLCST | HVLAEFKRKA | EVVFGDPTEW |
| 1030 | 1040 | 1050 | 1060 | 1070 | 1080 |
| TSSVLQELGT | IAAGLTKAEL | RMLDKDLMPY | FQPSAIKCLP | DEIFKELSAE | QIASLGPENA |
| 1090 | 1100 | 1110 | 1120 | 1130 | 1140 |
| AAVTHAQRRR | LSPLQLQSLQ | QALDGAKTHS | WQDAPASAGP | TRTSSSRSPA | GALQSWGLWL |
| 1150 | |||||
| GCPLLVLMAK | LLW |