Q8IXK2
PR
Gene name |
GALNT12 |
Protein name |
Polypeptide N-acetylgalactosaminyltransferase 12 |
Names |
Polypeptide GalNAc transferase 12, GalNAc-T12, pp-GaNTase 12, Protein-UDP acetylgalactosaminyltransferase 12, UDP-GalNAc:polypeptide N-acetylgalactosaminyltransferase 12 |
Species |
Homo sapiens (Human) |
KEGG Pathway |
hsa:79695 |
EC number |
2.4.1.41: Hexosyltransferases |
Protein Class |
|
Descriptions
The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.
Autoinhibitory domains (AIDs)
Target domain |
|
Relief mechanism |
|
Assay |
cis-regPred |
Accessory elements
No accessory elements
Autoinhibited structure
Activated structure
2 structures for Q8IXK2
| Entry ID | Method | Resolution | Chain | Position | Source |
|---|---|---|---|---|---|
| 6PXU | X-ray | 201 A | A/B | 39-581 | PDB |
| AF-Q8IXK2-F1 | Predicted | AlphaFoldDB |
606 variants for Q8IXK2
| Variant ID(s) | Position | Change | Description | Diseaes Association | Provenance |
|---|---|---|---|---|---|
|
RCV000792106 RCV000567041 rs267606839 RCV000001332 RCV000475919 RCV001021632 |
1 | M>I | Colorectal cancer, susceptibility to, 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001014005 rs1259048855 RCV001766834 RCV001860753 |
1 | M>L | Colorectal cancer, susceptibility to, 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs898798901 RCV000821211 RCV000569244 CA196833757 |
2 | W>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs898798901 RCV001346456 CA374221976 RCV001024788 |
2 | W>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1186134407 RCV001010275 CA374222000 RCV000821467 |
4 | R>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001396556 rs568625965 CA10582692 RCV000569817 |
7 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes TOPMed dbSNP gnomAD |
|
rs1419382391 CA374222034 RCV001860784 RCV001015113 |
8 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA16612696 RCV000457022 RCV001016065 rs889395877 |
9 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001019780 CA196833758 rs1009053405 RCV001322937 |
11 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001021866 rs1588436065 CA374222096 |
14 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001063316 rs1355510080 RCV002429703 |
18 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA374222129 rs1472321528 RCV001024038 |
18 | R>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000569412 rs1554753747 RCV001324446 |
20 | A>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1835406598 RCV002366188 RCV001322911 |
22 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA196833767 rs956810048 RCV002370068 RCV000793094 |
32 | G>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs988592123 RCV001017128 CA196833773 RCV000807069 |
35 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA374222366 RCV001011024 rs1588436153 |
45 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
VAR_064353 RCV000860775 CA5153898 RCV000573504 rs10987768 |
46 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA10582693 rs878855093 RCV001011175 RCV000227879 |
46 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001011263 RCV001054915 rs1220204419 |
46 | G>SG | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA374222383 rs1304764723 RCV001296349 RCV002393698 |
47 | A>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001235145 rs1376691635 CA374222381 RCV000568951 |
47 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA374222409 RCV001011908 RCV001039732 rs1431572320 |
50 | P>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1588436185 RCV001012162 CA374222422 |
52 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002402483 rs980755584 CA196833788 RCV001071131 |
52 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV002402925 rs1209537944 CA374222428 RCV001337478 |
53 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1209537944 RCV001012206 CA374222426 |
53 | P>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs927193317 RCV001056163 CA196833803 RCV000565608 |
55 | T>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001860712 rs1588436188 RCV001012495 |
55 | T>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA374222442 RCV001037263 RCV001012694 rs1588436209 |
56 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1379414621 RCV001012557 RCV000806893 |
56 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001065507 rs1237409974 RCV002402454 |
58 | P>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs992673909 RCV001013159 CA196833805 RCV001303274 |
60 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001853773 RCV000572321 rs1481280788 CA374222484 |
63 | P>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA374222485 RCV001013569 rs1481280788 |
63 | P>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1179298414 CA374222494 RCV000560962 CA374222492 RCV001013754 |
65 | M>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1179298414 RCV001219573 RCV001013756 CA374222493 |
65 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV002549400 RCV001013992 CA374222507 rs1437425266 |
67 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001014269 CA374222519 rs1588436249 RCV001308613 |
69 | P>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs781089454 RCV000564004 CA5153899 RCV000794002 |
71 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001218768 CA374222535 rs1439506011 RCV000561956 |
72 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1036085286 RCV002445365 CA374222560 RCV001070873 |
76 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001015287 rs1588436285 CA374222578 |
79 | G>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001203372 CA374222610 RCV002429868 rs1420976719 |
84 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs1588436292 RCV001015936 |
86 | L>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA374222664 rs1330744547 RCV000567137 |
88 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs1588436309 RCV002549433 RCV001016166 CA374222672 |
88 | G>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1374853820 RCV001860819 CA374222679 RCV001016144 |
89 | E>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001228653 rs1482512366 CA374222686 RCV002436887 |
90 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs868573205 CA196833827 RCV001352289 RCV002438820 |
94 | Q>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002438751 RCV001326752 rs1346303585 |
95 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA915947115 rs1588436340 RCV001016809 |
96 | E>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000473689 CA5153905 rs201926457 RCV000562988 |
101 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5153904 rs758541440 RCV000569846 |
101 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000867047 RCV000764794 RCV000573189 rs374994372 CA5153912 |
110 | R>H | Colorectal cancer, susceptibility to, 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001316703 RCV000573669 rs374994372 CA5153913 |
110 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM1314308 RCV001019934 CA374222995 rs1487945747 |
111 | I>V | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome urinary_tract [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
rs1207767530 RCV001020172 RCV001860974 CA374223039 |
113 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs866699148 RCV001020382 |
116 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1137654 VAR_064354 RCV000564501 RCV001510672 CA5153914 |
119 | E>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs202137559 RCV002479929 RCV000230525 CA5153916 RCV000568272 |
120 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001021439 rs1588444632 CA374216513 |
131 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000574395 rs370705797 RCV000463042 CA5153937 |
135 | L>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001853775 CA374216590 RCV000564726 rs1554755060 |
137 | R>K | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar Ensembl NCI-TCGA dbSNP |
|
CA374216606 rs1177006590 COSM1103152 RCV001021934 |
138 | T>I | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA dbSNP gnomAD |
|
RCV001022167 rs757214097 RCV001233066 CA5153939 |
142 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP |
|
CA5153940 rs765088669 RCV002329290 RCV001324686 |
143 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs1588444665 RCV001022408 CA374216706 |
146 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001022479 CA374216720 rs1175927536 |
148 | A>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs751656135 CA5153941 RCV001022466 RCV001862219 |
148 | A>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001022534 CA5153942 rs755075072 |
149 | W>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5153946 RCV001232213 rs756339026 RCV002327555 |
154 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001022776 CA5153944 RCV000228224 rs146834885 |
154 | R>W | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002341597 RCV001301484 rs1835788177 |
156 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001022962 CA5153948 rs140383365 RCV001050706 |
158 | S>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs747224942 RCV001206391 RCV001023521 |
170 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001365364 CA5153959 rs138795909 RCV001023753 |
174 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP gnomAD |
|
RCV001042708 rs780049629 CA5153960 RCV001023871 |
176 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1588446473 RCV001024089 CA374217225 |
181 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001309716 CA374217240 rs1196473648 RCV002350562 |
182 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002350642 RCV001347667 rs1835864292 |
182 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs750758049 RCV002348744 CA5153987 RCV001223017 |
186 | R>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001824686 rs183981750 CA349031 RCV001800532 RCV000565446 RCV000204844 |
189 | N>S | Familial colorectal cancer Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001024559 CA374217380 RCV001873384 rs1588446515 |
194 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001862299 rs1247073303 RCV001024702 CA374217436 |
198 | R>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5153998 RCV001024811 rs372616005 |
201 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA374217469 rs776800914 RCV001024824 |
201 | R>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs762155395 CA5154001 RCV001213819 RCV002356913 |
202 | A>T | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
CA374217491 rs375844934 RCV000567724 |
203 | N>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5154003 rs370024536 RCV000570841 RCV000764796 RCV001314387 |
203 | N>K | Colorectal cancer, susceptibility to, 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC dbSNP |
|
RCV000456953 RCV000568560 CA5154002 RCV000764795 rs375844934 |
203 | N>S | Colorectal cancer, susceptibility to, 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1588446598 CA374217521 RCV001024958 |
205 | R>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001064609 rs752104405 RCV001024986 CA5154006 |
206 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002366179 RCV001319245 rs781391307 |
210 | R>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs780705882 RCV000562148 CA374217552 RCV001318248 |
210 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5154010 RCV001043992 RCV001025135 rs377671466 |
211 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5154012 RCV001025176 rs777425926 |
212 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5154013 RCV001217404 RCV002365982 rs777425926 |
212 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001862320 CA196819545 rs770798296 RCV001025302 |
216 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000460711 RCV000566214 rs531023279 CA5154019 |
225 | T>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA5154022 RCV002365650 RCV001349011 rs763057175 |
227 | L>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs773546298 RCV000458752 RCV002480421 RCV000567159 CA5154021 |
227 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1289967555 RCV001059038 CA374217708 RCV002365726 |
229 | C>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV000462237 RCV002365651 rs751874783 CA5154024 |
231 | C>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs760069331 CA374217795 RCV001025944 |
234 | H>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001025967 rs767946700 RCV000232054 CA5154026 |
235 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA374217833 rs755708201 RCV001026085 |
238 | L>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs777144221 RCV000764797 RCV001230919 RCV000575978 CA5154029 |
239 | E>Q | Colorectal cancer, susceptibility to, 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001265633 RCV000463956 rs59362219 RCV000567651 CA5154030 |
240 | P>L | Hereditary cancer-predisposing syndrome Breast neoplasm [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001026449 CA374217914 rs1588449816 |
248 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001214943 rs756936867 RCV002393499 CA5154049 |
250 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002395718 RCV002493699 rs1316883841 RCV001325301 CA374217945 |
253 | V>A | Colorectal cancer, susceptibility to, 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001026583 rs1304031845 CA374217943 |
253 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
CA5154052 RCV001026662 rs758330743 RCV001873413 |
255 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001338168 rs147356342 RCV001026795 CA350390 |
259 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001236382 rs147356342 RCV002411872 CA196823846 |
259 | V>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs41306504 RCV000794474 RCV002406737 CA374217990 |
261 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000568677 CA5154056 RCV000228603 RCV001800598 rs41306504 VAR_064355 RCV001762546 |
261 | D>N | Colorectal cancer, susceptibility to, 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5154057 rs373792075 RCV001026874 |
262 | W>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002418981 rs1454775771 RCV001327232 CA374218030 |
266 | E>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
RCV000570146 rs759750251 RCV001300831 CA5154059 |
266 | E>K | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000565768 CA5154060 RCV001059441 rs772466597 |
268 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001027169 rs1416100156 CA374218057 |
270 | N>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
VAR_064356 RCV000566163 CA5154061 RCV000870205 rs367645298 |
272 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA5154062 RCV001207628 rs540061502 RCV001027284 |
274 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
CA196823887 RCV002431979 RCV001347681 rs944134910 |
275 | Q>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
rs200420144 RCV001027374 RCV001054916 CA5154068 |
277 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs751274362 RCV000573657 RCV001326977 CA5154070 |
278 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001017676 RCV001309208 rs748104709 CA5154073 |
280 | D>N | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001226329 rs748104709 CA5154074 RCV001017679 |
280 | D>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000802882 CA374218165 rs1588449987 RCV002442670 |
284 | V>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001017935 CA5154079 rs772292450 RCV001349721 |
284 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001860890 rs548915885 CA5154080 RCV001018034 |
286 | T>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001018147 RCV001320897 rs1588450015 CA374218236 |
289 | T>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000802288 RCV000562402 CA5154083 rs371949942 |
290 | V>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV000470755 rs1060502969 RCV001018266 |
292 | E>missing | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588450031 RCV001018273 CA374218271 |
292 | E>Q | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1234947730 CA374218310 RCV001018385 |
295 | R>G | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5154085 RCV001018409 rs762729583 RCV001860908 |
295 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000226829 RCV000564239 CA5154087 rs751386354 |
297 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000573876 CA5154086 RCV000231446 rs149726976 RCV001762547 VAR_064357 |
297 | R>W | Colorectal cancer, susceptibility to, 1 Hereditary cancer-predisposing syndrome CRCS1; germline mutation; partial loss of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
CA374218355 CA374218354 RCV000566507 rs1429382002 |
298 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen gnomAD ClinVar dbSNP |
|
CA5154089 RCV001018546 rs145557511 RCV002550841 |
299 | Q>* | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs777263033 RCV001018597 RCV001860919 CA5154091 |
300 | S>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV002375137 RCV001205558 rs973765987 CA196824085 |
301 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000571580 rs780195786 CA5154095 RCV000866484 |
302 | V>I | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; 4.628e-05 impact. [ClinVar, NCI-TCGA] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV000229689 RCV001762455 RCV000656380 rs145236923 CA351208 RCV000210098 VAR_064358 |
303 | D>N | Adenomatous polyposis coli, attenuated Colorectal cancer, susceptibility to, 1 Hereditary cancer-predisposing syndrome CRCS1; germline mutation; reduction of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
RCV002375251 rs1836010243 RCV001237322 |
305 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588450129 RCV001018910 CA374218427 |
305 | I>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001018995 RCV001860934 rs1313362587 CA374219319 |
307 | S>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA5154119 RCV001019061 rs537015652 RCV001206010 |
308 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
RCV001019077 rs773891669 RCV000474465 CA5154120 |
309 | T>A | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1017576138 RCV002379763 CA196826101 RCV001202615 |
328 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
CA196826108 RCV003094884 RCV002387331 rs267602051 |
329 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5154130 RCV001041979 rs751621695 RCV002409396 |
335 | W>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000458771 CA5154135 RCV001009706 rs756614355 |
339 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA374219538 RCV001298449 RCV002366127 rs1477940403 |
340 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
| VAR_064359 | 341 | E>D | CRCS1; somatic mutation; loss of activity [UniProt] | Yes | UniProt |
|
RCV001017031 RCV001873283 CA374219539 COSM275253 rs1447125430 |
341 | E>K | Variant assessed as Somatic; 0.0 impact. large_intestine Hereditary cancer-predisposing syndrome [NCI-TCGA, Cosmic, ClinVar] | Yes |
ClinGen cosmic curated ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1588452552 CA374219548 RCV001017053 |
342 | F>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA5154137 RCV001017057 rs749861818 RCV001873284 |
343 | S>F | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA dbSNP gnomAD |
|
RCV001017070 RCV001327584 rs747921962 CA5154164 |
349 | C>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1040733256 CA196827461 RCV001017078 RCV000809424 |
350 | G>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
CA5154170 RCV001017170 rs369793331 |
363 | H>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs369793331 RCV001017171 CA196827517 |
363 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001017342 RCV001873290 CA5154171 rs191693197 |
370 | P>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs1836170300 RCV001307852 RCV002437051 |
372 | S>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
VAR_064360 RCV001048263 CA196827563 RCV001017386 rs920049418 |
373 | R>H | Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. CRCS1; germline mutation; partial loss of activity [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
CA374219857 RCV001009955 rs1588453921 |
378 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002322019 rs1836171083 RCV001208672 |
378 | A>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA196827612 rs912533623 RCV001017445 RCV001860866 |
382 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar NCI-TCGA TOPMed dbSNP gnomAD |
|
RCV001318981 VAR_064361 rs868590153 CA196827618 RCV000562683 |
382 | R>H | Hereditary cancer-predisposing syndrome CRCS1; germline mutation; loss of activity [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP gnomAD |
|
CA374219888 RCV001017469 rs1588453944 |
383 | A>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001242028 rs1588453974 RCV000001334 CA374220007 |
395 | Y>* | Colorectal cancer, susceptibility to, 1 [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001315850 CA374220016 VAR_068509 rs1272530441 RCV002341641 |
396 | Y>C | Hereditary cancer-predisposing syndrome CRCS1 [ClinVar, UniProt] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA5154181 rs747755624 RCV001010269 RCV002549315 |
398 | R>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000564337 RCV001853774 rs769674764 CA5154182 |
398 | R>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000468251 RCV001010284 rs1060502968 CA16612802 |
401 | R>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV000567383 CA5154185 RCV002528987 rs201499778 |
403 | R>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD |
|
rs776700061 RCV000565089 CA5154186 RCV000473627 |
403 | R>H | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs769837927 RCV000572977 RCV000807113 CA5154209 |
406 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA196829587 rs892227579 RCV002381879 RCV000823622 |
414 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
rs755796376 RCV002549321 RCV001010632 CA5154218 |
422 | C>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
CA374220999 rs1554756832 RCV000561564 |
424 | D>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs753534837 CA5154220 RCV001010705 RCV001361096 |
426 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1472145598 RCV002530949 RCV000590910 RCV002377222 |
427 | W>missing | Hereditary cancer-predisposing syndrome Colorectal cancer [ClinVar] | Yes |
ClinVar dbSNP |
|
rs1588455792 CA374221060 RCV001010807 |
432 | V>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
CA374221069 rs1588455795 RCV001010822 |
433 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000475426 CA5154224 RCV000564580 rs34565987 |
434 | P>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD |
|
rs745821987 CA5154223 RCV001860651 RCV001010857 |
434 | P>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
rs1297882734 RCV001202844 RCV002379765 |
436 | L>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
RCV001010893 rs139208509 CA5154227 |
437 | H>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs1588455845 RCV001011077 CA374221132 |
444 | G>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs200788044 CA5154235 RCV001038719 RCV001011112 |
446 | F>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5154236 rs376441206 RCV000766032 RCV000568478 RCV001060431 |
447 | G>R | Colorectal cancer, susceptibility to, 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001346227 rs1163186722 RCV002384479 CA374221353 |
456 | D>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002384454 CA5154255 RCV001339372 rs763533761 |
456 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV000821710 RCV000570571 rs370060387 CA5154256 |
458 | C>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5154258 RCV001011290 rs764920800 RCV001319599 |
461 | Y>C | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV002550765 rs777862536 CA5154263 RCV001011312 |
465 | D>N | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001011507 rs1588458096 CA374221481 |
474 | V>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
| VAR_064362 | 479 | C>F | CRCS1; somatic mutation; loss of activity [UniProt] | Yes | UniProt |
|
rs1060502970 RCV001764433 CA16612803 RCV001368354 RCV001011626 |
482 | M>I | Colorectal cancer, susceptibility to, 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV001300473 rs137917376 RCV001011528 CA5154294 |
489 | E>K | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar 1000Genomes ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
CA114897 RCV002390084 RCV000001333 VAR_064363 rs267606840 |
491 | T>M | Colorectal cancer, susceptibility to, 1 Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome CRCS1; germline mutation; loss of activity [ClinVar, NCI-TCGA, UniProt] | Yes |
ClinGen ClinVar UniProt NCI-TCGA TOPMed dbSNP gnomAD |
|
CA5154299 rs775453262 RCV001207105 RCV001011840 |
497 | R>C | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs200112438 RCV002388467 CA5154300 RCV000799655 |
497 | R>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001860684 CA196832594 RCV001011872 rs200112438 |
497 | R>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001011855 CA374221657 rs1588459528 |
498 | Y>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001011916 rs751724626 CA5154304 |
501 | H>Y | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001011965 rs1588459566 RCV002551754 CA374221723 |
507 | I>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV002393524 rs999070067 CA196832630 RCV001219466 |
509 | V>M | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
RCV002402695 CA5154311 rs748778853 RCV001223709 |
516 | L>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
rs200303625 RCV000575752 RCV000809128 CA5154315 COSM1103160 |
522 | E>K | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome endometrium [NCI-TCGA, ClinVar, Cosmic] | Yes |
ClinGen cosmic curated ClinVar 1000Genomes ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs142096902 CA5154318 RCV001012264 RCV001053463 |
528 | N>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA374221916 RCV002404805 RCV001343983 rs1443842231 |
535 | E>D | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001012353 RCV001372881 CA5154329 rs749758074 |
536 | D>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
COSM752320 CA374222758 rs376894835 RCV000817645 RCV002397703 |
542 | E>K | lung Hereditary cancer-predisposing syndrome Variant assessed as Somatic; impact. [Cosmic, ClinVar, NCI-TCGA] | Yes |
ClinGen cosmic curated ClinVar ESP NCI-TCGA TOPMed dbSNP |
|
CA5154332 rs374166991 RCV001012395 RCV001862787 |
546 | K>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5154334 rs368008649 RCV001012534 RCV001063457 |
547 | C>S | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
RCV001295339 rs1285871027 VAR_064364 RCV000566645 CA374222976 |
552 | R>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar UniProt TOPMed dbSNP |
|
CA374223025 rs761631783 RCV001012644 |
555 | S>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5154338 RCV001204259 RCV002402585 rs761631783 |
555 | S>L | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV000766033 CA5154341 rs759843363 RCV000465556 RCV001012666 |
558 | S>G | Colorectal cancer, susceptibility to, 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
RCV001860719 RCV001012731 CA5154346 rs764337232 |
562 | L>R | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
RCV001225448 RCV002411833 rs1836487597 |
563 | L>F | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinVar dbSNP |
|
CA196834041 RCV002551762 RCV001012764 rs200145205 |
564 | R>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA5154348 rs778487948 RCV000869196 RCV000561220 |
564 | R>Q | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1588461400 CA374223254 RCV001012748 |
568 | N>K | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV000562186 RCV001347918 CA5154349 rs749874941 RCV001764685 |
568 | N>S | Colorectal cancer, susceptibility to, 1 Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA374223253 rs749874941 RCV001012783 |
568 | N>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
CA5154350 RCV002411493 rs199958039 RCV000457848 |
569 | S>L | Variant assessed as Somatic; 0.0 impact. Hereditary cancer-predisposing syndrome [NCI-TCGA, ClinVar] | Yes |
ClinGen ClinVar ExAC NCI-TCGA TOPMed dbSNP gnomAD |
|
rs1588461421 RCV001012830 CA374223317 |
573 | K>E | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
RCV001012899 CA5154355 rs146530383 |
574 | W>* | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
rs367620732 RCV001858370 RCV000563284 CA5154357 |
579 | R>H | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA374223401 RCV001012951 rs367620732 |
579 | R>P | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD |
|
CA374223416 RCV001012915 rs1588461456 |
580 | M>I | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar Ensembl dbSNP |
|
rs1194642022 RCV001012934 CA374223407 RCV001321665 |
580 | M>T | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar dbSNP gnomAD |
|
rs1060502966 CA16612905 RCV001324449 RCV002402283 |
580 | M>V | Hereditary cancer-predisposing syndrome [ClinVar] | Yes |
ClinGen ClinVar TOPMed dbSNP |
|
RCV001047224 rs1835403535 |
1 | M>missing | No |
ClinVar dbSNP |
|
|
rs898798901 CA196833756 |
2 | W>* | No |
ClinGen TOPMed gnomAD |
|
|
CA374221979 rs1485624295 |
2 | W>* | No |
ClinGen gnomAD |
|
|
rs1485624295 CA374221982 |
2 | W>C | No |
ClinGen gnomAD |
|
|
VAR_064352 CA374221993 rs1356894484 |
3 | G>E | No |
ClinGen UniProt TOPMed dbSNP |
|
|
rs1161821254 CA374221997 |
4 | R>C | No |
ClinGen gnomAD |
|
|
rs1186134407 CA374222003 |
4 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA374222029 rs568625965 |
7 | R>Q | No |
ClinGen 1000Genomes TOPMed gnomAD |
|
|
CA374222037 rs1313526292 |
8 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1163432196 CA374222047 |
9 | R>H | No |
ClinGen gnomAD |
|
|
CA374222123 rs1160216783 |
17 | G>D | No |
ClinGen gnomAD |
|
|
rs1019563575 CA196833762 |
17 | G>S | No |
ClinGen TOPMed |
|
|
CA374222131 rs1472321528 |
18 | R>P | No |
ClinGen TOPMed |
|
|
RCV001302012 CA374222139 rs1233215782 |
19 | E>A | No |
ClinGen ClinVar TOPMed dbSNP |
|
|
rs1835406548 RCV001047510 |
22 | L>S | No |
ClinVar dbSNP |
|
| TCGA novel | 23 | V>A | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs765971997 CA5153896 |
24 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA374222223 rs1310082193 |
29 | A>E | No |
ClinGen TOPMed |
|
|
CA374222230 rs1448888444 |
30 | L>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1279078183 CA374222238 |
31 | A>T | No |
ClinGen gnomAD |
|
|
rs1445032491 CA374222253 |
32 | G>E | No |
ClinGen TOPMed |
|
|
rs956810048 CA374222246 |
32 | G>R | No |
ClinGen TOPMed gnomAD |
|
|
CA374222278 rs988592123 |
35 | S>W | No |
ClinGen TOPMed gnomAD |
|
|
rs1401451719 CA374222303 |
38 | R>P | No |
ClinGen TOPMed |
|
|
rs1401451719 CA374222301 |
38 | R>Q | No |
ClinGen TOPMed |
|
|
CA374222299 rs1164208180 |
38 | R>W | No |
ClinGen TOPMed |
|
|
rs1178651943 CA374222310 |
39 | A>E | No |
ClinGen TOPMed |
|
|
rs1437661282 CA374222320 |
40 | Q>P | No |
ClinGen TOPMed |
|
|
rs1281379284 CA374222336 |
41 | R>H | No |
ClinGen TOPMed gnomAD |
|
| TCGA novel | 43 | A>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1263115070 CA374222355 |
44 | G>V | No |
ClinGen TOPMed |
|
|
CA374222390 rs1443700648 |
48 | A>T | No |
ClinGen TOPMed |
|
|
rs1237089851 CA374222395 |
48 | A>V | No |
ClinGen gnomAD |
|
|
rs1484373258 CA374222397 |
49 | E>K | No |
ClinGen gnomAD |
|
|
CA374222406 rs1292953164 |
50 | P>T | No |
ClinGen TOPMed |
|
| TCGA novel | 53 | P>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA196833802 rs1007797317 |
55 | T>P | No |
ClinGen Ensembl |
|
|
rs1564243769 CA374222440 |
56 | P>A | No |
ClinGen Ensembl |
|
|
rs1485942200 CA374222452 |
58 | P>A | No |
ClinGen TOPMed |
|
|
rs1835411866 RCV001204016 |
59 | G>R | No |
ClinVar dbSNP |
|
|
rs917032910 CA196833810 |
64 | V>I | No |
ClinGen TOPMed |
|
|
CA374222505 rs1281430774 |
66 | P>R | No |
ClinGen TOPMed |
|
|
RCV000817854 rs1588436255 CA374222522 |
69 | P>L | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
CA374222531 rs1301261419 |
71 | P>A | No |
ClinGen TOPMed |
|
|
rs1399582875 CA374222540 |
72 | A>V | No |
ClinGen TOPMed |
|
|
CA196833817 rs1036085286 |
76 | G>R | No |
ClinGen TOPMed |
|
|
rs1467453647 CA374222572 |
78 | R>W | No |
ClinGen TOPMed |
|
|
rs1564243842 CA374222579 |
79 | G>D | No |
ClinGen Ensembl |
|
| TCGA novel | 79 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs930278111 CA196833822 |
85 | Q>R | No |
ClinGen TOPMed gnomAD |
|
|
CA374222637 rs1487723569 |
86 | L>P | No |
ClinGen TOPMed |
|
|
RCV001320098 rs1588436292 |
86 | L>missing | No |
ClinVar dbSNP |
|
|
CA374222726 rs1370656109 |
92 | R>Q | No |
ClinGen TOPMed gnomAD |
|
|
rs1346303585 CA374222759 |
95 | E>Q | No |
ClinGen gnomAD |
|
|
rs372282217 CA5153902 |
96 | E>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
| TCGA novel | 96 | E>missing | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374222807 rs1200080932 |
97 | S>N | No |
ClinGen gnomAD |
|
|
CA374222817 rs1238437424 |
97 | S>R | No |
ClinGen TOPMed gnomAD |
|
|
rs749211809 CA5153903 |
98 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749211809 CA374222819 |
98 | V>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1196452591 CA374222827 |
99 | R>W | No |
ClinGen gnomAD |
|
|
rs1478312433 CA374222848 |
100 | L>Q | No |
ClinGen gnomAD |
|
|
CA374222886 rs1402387072 |
104 | N>I | No |
ClinGen TOPMed |
|
|
rs768714862 CA374222892 |
105 | I>F | No |
ClinGen ExAC TOPMed |
|
|
rs1332254128 CA374222895 |
105 | I>N | No |
ClinGen gnomAD |
|
|
rs768714862 CA5153907 |
105 | I>V | No |
ClinGen ExAC TOPMed |
|
|
CA5153908 rs777089837 |
106 | Y>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374222920 rs1385360651 |
107 | L>F | No |
ClinGen gnomAD |
|
|
CA374222940 rs1332042794 |
108 | S>G | No |
ClinGen gnomAD |
|
|
rs773910987 CA5153911 |
109 | D>Y | No |
ClinGen ExAC gnomAD |
|
|
rs1219900667 CA374222985 |
110 | R>G | No |
ClinGen gnomAD |
|
|
CA374223091 rs1192789618 |
116 | R>C | No |
ClinGen gnomAD |
|
|
rs1421429267 CA374223094 |
116 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs1421429267 CA374223093 |
116 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
rs1478787439 CA374223103 |
118 | P>S | No |
ClinGen gnomAD |
|
|
CA374223123 rs1368031423 |
119 | E>* | No |
ClinGen gnomAD |
|
|
rs1137654 CA5153915 |
119 | E>G | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374223162 rs1391841803 |
121 | W>C | No |
ClinGen gnomAD |
|
|
CA5153917 rs752549319 |
123 | P>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374223186 rs1207193475 |
123 | P>T | No |
ClinGen gnomAD |
|
|
rs1356352242 CA374216435 |
125 | C>F | No |
ClinGen TOPMed |
|
|
CA5153933 rs758912709 |
125 | C>R | No |
ClinGen ExAC gnomAD |
|
|
rs775071389 CA5153935 |
127 | E>Q | No |
ClinGen ExAC gnomAD |
|
|
CA374216504 rs1183648101 RCV001295465 |
130 | Y>F | No |
ClinGen ClinVar TOPMed dbSNP gnomAD |
|
|
CA5153936 rs143127190 |
131 | D>G | No |
ClinGen ESP ExAC TOPMed |
|
|
RCV001209696 rs1835786603 |
133 | D>G | No |
ClinVar dbSNP |
|
|
CA5153938 rs143801019 |
135 | L>F | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs1477259561 CA374216646 |
142 | I>V | No |
ClinGen TOPMed |
|
| TCGA novel | 143 | A>S | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1175927536 CA374216719 |
148 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1053923044 CA196816518 |
150 | S>T | No |
ClinGen TOPMed |
|
|
rs781330491 CA5153943 |
151 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs756339026 CA5153945 |
154 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749630939 CA5153947 |
157 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
rs201974583 CA196816567 |
158 | S>N | No |
ClinGen Ensembl |
|
|
CA5153949 rs779620212 |
158 | S>R | No |
ClinGen ExAC gnomAD |
|
|
rs1441365263 CA374216778 |
159 | V>I | No |
ClinGen TOPMed gnomAD |
|
|
rs1023064486 CA196816603 |
161 | E>K | No |
ClinGen Ensembl |
|
|
rs746381338 CA5153950 |
162 | T>I | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5153951 rs771521076 RCV001351453 |
163 | S>F | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs775040546 CA5153952 |
164 | P>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374216810 rs775040546 RCV001209900 |
164 | P>Q | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1196931129 CA374216817 |
165 | D>V | No |
ClinGen gnomAD |
|
|
CA5153954 rs1343862677 |
168 | L>P | No |
ClinGen Ensembl |
|
|
RCV001351853 rs1835789469 |
168 | L>V | No |
ClinVar dbSNP |
|
|
CA374216844 rs1363390968 |
170 | E>K | No |
ClinGen gnomAD |
|
|
CA374216852 rs1212298596 |
171 | V>M | No |
ClinGen gnomAD |
|
|
CA5153957 rs776411813 |
172 | I>F | No |
ClinGen ExAC gnomAD |
|
|
CA374216864 rs1588444757 |
173 | L>F | No |
ClinGen Ensembl |
|
|
rs867136237 CA196816673 |
177 | Y>C | No |
ClinGen TOPMed |
|
|
rs867136237 CA374216894 |
177 | Y>S | No |
ClinGen TOPMed |
|
|
rs906520882 CA196816679 |
179 | D>G | No |
ClinGen TOPMed gnomAD |
|
|
CA5153961 rs762919200 |
179 | D>N | No |
ClinGen ExAC gnomAD |
|
|
rs1835790665 RCV001305639 |
180 | R>G | No |
ClinVar dbSNP |
|
|
CA5153986 rs200974728 |
185 | E>Q | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5153988 rs758830613 |
186 | R>H | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA196819362 rs932692481 |
187 | L>F | No |
ClinGen Ensembl |
|
|
rs183981750 CA374217322 |
189 | N>I | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5153990 rs754554283 |
192 | S>L | No |
ClinGen ExAC gnomAD |
|
|
rs1835865743 RCV001059883 |
193 | G>A | No |
ClinVar dbSNP |
|
|
CA5153994 rs772913658 |
194 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA196819429 rs567989954 |
195 | P>L | No |
ClinGen 1000Genomes |
|
|
CA196819445 rs1003752437 |
196 | K>R | No |
ClinGen TOPMed gnomAD |
|
|
rs953896453 CA196819449 |
197 | V>E | No |
ClinGen TOPMed |
|
|
rs1282544977 CA374217417 |
197 | V>M | No |
ClinGen gnomAD |
|
|
rs536814570 CA5153995 |
198 | R>C | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen 1000Genomes ExAC NCI-TCGA gnomAD |
|
CA374217434 rs1247073303 |
198 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
CA5153996 rs770787500 |
199 | L>P | No |
ClinGen ExAC gnomAD |
|
|
CA374217459 rs1219366741 |
200 | I>S | No |
ClinGen gnomAD |
|
|
rs372616005 CA5153999 |
201 | R>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5154000 rs776800914 |
201 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs762155395 CA374217477 |
202 | A>S | No |
ClinGen ExAC gnomAD |
|
|
rs1183829988 CA374217499 |
204 | K>E | No |
ClinGen gnomAD |
|
|
CA5154005 rs766652774 |
205 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA374217551 rs1332266053 |
210 | R>* | No |
ClinGen gnomAD |
|
|
CA5154009 COSM1103154 rs780705882 |
210 | R>Q | Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic] | No |
ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD |
|
CA374217556 rs1308828909 |
211 | A>D | No |
ClinGen TOPMed gnomAD |
|
|
rs1308828909 CA374217559 |
211 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
CA374217560 rs371040665 |
212 | R>G | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5154011 rs371040665 |
212 | R>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs770798296 CA5154014 |
216 | A>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374217581 rs1199314497 |
216 | A>V | No |
ClinGen gnomAD |
|
| TCGA novel | 217 | S>P | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1462280188 CA374217593 |
218 | A>V | No |
ClinGen gnomAD |
|
|
rs1237226126 CA374217601 |
219 | A>E | No |
ClinGen gnomAD |
|
|
rs1237226126 CA15602941 |
219 | A>V | No |
ClinGen gnomAD |
|
|
CA374217611 rs1183701126 |
220 | R>T | No |
ClinGen TOPMed gnomAD |
|
|
CA196819557 rs568933955 |
221 | G>A | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA5154017 rs568933955 |
221 | G>D | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374217628 rs947666286 |
222 | D>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA TOPMed gnomAD |
|
CA196819562 rs947666286 |
222 | D>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA374217646 rs1480815864 |
223 | V>D | No |
ClinGen TOPMed |
|
|
CA5154018 rs776852348 |
223 | V>F | No |
ClinGen ExAC gnomAD |
|
|
rs776852348 CA374217641 |
223 | V>I | No |
ClinGen ExAC gnomAD |
|
|
CA196819569 rs867921388 |
225 | T>I | No |
ClinGen gnomAD |
|
|
RCV000470744 CA16612952 rs867921388 |
225 | T>N | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
CA374217663 rs531023279 |
225 | T>P | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
rs999235992 CA196819574 |
226 | F>L | No |
ClinGen gnomAD |
|
|
rs766820711 CA5154023 |
230 | H>D | No |
ClinGen ExAC gnomAD |
|
|
COSM1103155 CA374217799 rs1256927785 |
235 | E>K | endometrium Variant assessed as Somatic; 6.106e-05 impact. [Cosmic, NCI-TCGA] | No |
ClinGen cosmic curated NCI-TCGA gnomAD |
|
CA374217826 rs1197184207 |
237 | W>* | No |
ClinGen gnomAD |
|
|
rs752218687 CA5154027 |
237 | W>C | No |
ClinGen ExAC gnomAD |
|
|
CA196819686 rs868359073 |
238 | L>M | No |
ClinGen Ensembl |
|
|
rs755708201 CA5154028 |
238 | L>R | No |
ClinGen ExAC gnomAD |
|
|
CA374217836 rs1480751444 |
239 | E>A | No |
ClinGen gnomAD |
|
|
rs1463662077 CA374217866 |
244 | R>K | No |
ClinGen gnomAD |
|
|
rs1463662077 CA374217867 |
244 | R>T | No |
ClinGen gnomAD |
|
|
CA374217896 rs1284185739 |
246 | H>R | No |
ClinGen TOPMed |
|
|
CA374217916 rs1347415125 |
249 | E>K | No |
ClinGen Ensembl |
|
|
rs756936867 CA374217927 |
250 | S>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs750084638 RCV000795975 CA5154051 |
254 | C>R | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
CA5154054 rs747019868 |
257 | I>T | No |
ClinGen ExAC gnomAD |
|
|
rs1486823097 CA374217967 |
257 | I>V | No |
ClinGen gnomAD |
|
|
CA374217992 rs1386229808 |
261 | D>G | No |
ClinGen gnomAD |
|
| TCGA novel | 269 | G>R | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1416100156 CA374218056 |
270 | N>S | No |
ClinGen TOPMed gnomAD |
|
|
rs1187144472 CA374218064 |
271 | S>Y | No |
ClinGen TOPMed |
|
|
rs1216217660 CA374218075 |
273 | E>G | No |
ClinGen TOPMed |
|
|
CA374218082 rs1239107738 |
274 | P>L | No |
ClinGen gnomAD |
|
|
CA374218081 rs1239107738 |
274 | P>R | No |
ClinGen gnomAD |
|
|
rs560176783 CA5154064 |
275 | Q>E | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs768925908 CA5154067 |
276 | I>M | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374218097 rs200420144 |
277 | G>C | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1399071502 CA374218103 |
278 | G>D | No |
ClinGen TOPMed |
|
|
rs754951224 RCV000821171 CA5154072 |
279 | F>L | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs746110126 CA5154076 |
281 | W>* | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs374578939 CA5154077 |
282 | R>K | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA374218149 rs1406290246 |
283 | L>V | No |
ClinGen gnomAD |
|
|
CA374218159 rs772292450 |
284 | V>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374218210 rs1321367486 |
287 | W>* | No |
ClinGen gnomAD |
|
|
rs772804071 CA5154084 |
291 | P>S | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA374218294 rs1202775844 |
294 | E>K | No |
ClinGen gnomAD |
|
|
CA374218326 rs1588450054 RCV000805450 |
296 | I>V | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs751386354 CA5154088 |
297 | R>P | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374218347 rs1564256037 |
298 | M>L | No |
ClinGen Ensembl |
|
|
CA374218351 rs1177891875 |
298 | M>R | No |
ClinGen gnomAD |
|
|
rs1177891875 CA374218349 |
298 | M>T | No |
ClinGen gnomAD |
|
|
rs16917929 CA374218368 |
299 | Q>H | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA374218382 rs973765987 |
301 | P>A | No |
ClinGen TOPMed gnomAD |
|
|
rs944091378 CA196824155 |
304 | V>A | No |
ClinGen TOPMed gnomAD |
|
|
rs749808837 CA5154118 |
308 | P>T | No |
ClinGen ExAC gnomAD |
|
|
rs1196252936 CA374219347 |
311 | A>V | No |
ClinGen TOPMed gnomAD |
|
|
rs1284921928 CA374219351 |
312 | G>V | No |
ClinGen TOPMed |
|
| TCGA novel | 314 | L>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1212967391 CA374219361 |
314 | L>V | No |
ClinGen gnomAD |
|
|
CA5154123 rs775275455 |
316 | A>S | No |
ClinGen ExAC |
|
|
CA196826060 rs954825101 |
317 | V>L | No |
ClinGen TOPMed |
|
|
CA196826059 rs954825101 |
317 | V>M | No |
ClinGen TOPMed |
|
|
rs1836111273 RCV001319009 |
318 | S>N | No |
ClinVar dbSNP |
|
|
rs760520936 CA5154124 |
321 | Y>C | No |
ClinGen ExAC gnomAD |
|
|
CA196826069 rs1037385337 |
322 | F>L | No |
ClinGen TOPMed |
|
|
CA5154125 rs763868835 |
323 | E>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
RCV001201595 rs1836111722 |
323 | E>K | No |
ClinVar dbSNP |
|
|
rs1383129195 CA374219433 |
324 | Y>* | No |
ClinGen gnomAD |
|
|
CA374219448 rs1588452486 |
327 | S>A | No |
ClinGen Ensembl |
|
|
rs761786369 CA5154127 RCV000796468 |
327 | S>C | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
| TCGA novel | 328 | Y>* | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374219465 rs1398892655 |
330 | T>A | No |
ClinGen gnomAD |
|
|
CA5154128 rs766388702 |
332 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA374219495 rs1253229518 |
334 | V>F | No |
ClinGen TOPMed gnomAD |
|
|
rs751621695 CA374219506 |
335 | W>C | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5154132 rs755162936 |
337 | G>A | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1389588506 CA374219528 |
339 | N>Y | No |
ClinGen Ensembl |
|
|
rs1202605494 CA374219553 |
342 | F>L | No |
ClinGen gnomAD |
|
|
rs1427277664 CA374219565 |
344 | F>C | No |
ClinGen TOPMed |
|
|
CA5154140 rs778289504 |
345 | R>S | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1836167752 RCV001344982 |
346 | I>N | No |
ClinVar dbSNP |
|
|
rs746684383 CA5154161 |
348 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs776418135 CA5154163 |
349 | C>R | No |
ClinGen ExAC gnomAD |
|
|
CA5154165 rs769466991 |
350 | G>D | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs557750030 CA196827478 |
355 | T>A | No |
ClinGen Ensembl |
|
|
rs773270880 CA5154166 |
356 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1223719188 CA374219710 |
357 | P>A | No |
ClinGen gnomAD |
|
|
rs143652350 RCV001230186 |
358 | C>F | No |
ClinVar dbSNP |
|
|
rs1380223372 CA374219720 |
358 | C>R | No |
ClinGen TOPMed |
|
|
CA5154169 rs143652350 |
358 | C>S | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5154168 rs143652350 |
358 | C>Y | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1197275502 CA374219745 |
360 | H>R | No |
ClinGen gnomAD |
|
| TCGA novel | 363 | H>Q | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1197262411 CA374219764 |
363 | H>R | No |
ClinGen gnomAD |
|
|
rs149416915 CA196827520 |
367 | K>R | No |
ClinGen 1000Genomes gnomAD |
|
|
CA5154172 rs371373776 |
373 | R>C | No |
ClinGen ExAC gnomAD |
|
|
rs757706390 CA5154173 |
374 | N>K | No |
ClinGen ExAC gnomAD |
|
|
CA5154174 rs765486750 |
376 | A>P | No |
ClinGen ExAC gnomAD |
|
|
rs750984582 CA5154175 |
376 | A>V | No |
ClinGen ExAC gnomAD |
|
|
rs1836171338 RCV001327859 |
379 | N>Y | No |
ClinVar dbSNP |
|
|
rs779568450 CA5154177 |
380 | S>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs779568450 CA374219871 |
380 | S>R | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374219887 rs868590153 |
382 | R>L | No |
ClinGen TOPMed gnomAD |
|
|
rs868590153 CA374219886 |
382 | R>P | No |
ClinGen TOPMed gnomAD |
|
|
CA374219904 rs1564259174 |
385 | E>G | No |
ClinGen Ensembl |
|
|
rs1206433914 CA374219915 |
387 | W>R | No |
ClinGen TOPMed |
|
| TCGA novel | 388 | M>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs751002199 CA5154178 |
389 | D>G | No |
ClinGen ExAC gnomAD |
|
|
CA196827626 rs944633026 |
389 | D>H | No |
ClinGen TOPMed |
|
|
rs866023876 CA196827631 |
390 | E>K | No |
ClinGen Ensembl |
|
|
CA196827637 rs1004565107 |
393 | E>A | No |
ClinGen Ensembl |
|
|
CA5154179 rs754642218 |
393 | E>Q | No |
ClinGen ExAC gnomAD |
|
| TCGA novel | 394 | L>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA5154180 rs780883563 |
396 | Y>D | No |
ClinGen ExAC gnomAD |
|
|
CA374220027 rs1229245218 |
397 | H>Y | No |
ClinGen gnomAD |
|
|
CA374220040 rs769674764 |
398 | R>P | No |
ClinGen ExAC gnomAD |
|
|
rs1293804286 CA374220057 |
400 | P>S | No |
ClinGen gnomAD |
|
|
rs1204571302 CA374220068 |
401 | R>H | Variant assessed as Somatic; 4.619e-05 impact. [NCI-TCGA] | No |
ClinGen NCI-TCGA gnomAD |
| TCGA novel | 401 | R>V | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
| TCGA novel | 404 | L>W | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA374220871 rs1404824748 |
405 | E>K | No |
ClinGen gnomAD |
|
|
CA196829580 rs1052099605 |
411 | T>A | No |
ClinGen TOPMed |
|
|
CA5154212 rs763368999 |
413 | R>G | No |
ClinGen ExAC gnomAD |
|
|
rs1318688316 CA374220937 |
414 | K>N | No |
ClinGen TOPMed gnomAD |
|
|
rs752104260 CA5154214 |
417 | R>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs752104260 CA374220953 |
417 | R>Q | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA5154213 rs766728145 |
417 | R>W | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA TOPMed gnomAD |
|
CA374220956 rs1321671699 |
418 | D>H | No |
ClinGen TOPMed gnomAD |
|
|
CA374220955 rs1321671699 |
418 | D>N | No |
ClinGen TOPMed gnomAD |
|
|
rs752109293 CA5154217 |
421 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
rs755796376 CA374220988 |
422 | C>Y | No |
ClinGen ExAC gnomAD |
|
|
rs997113902 CA196829630 |
423 | K>E | No |
ClinGen Ensembl |
|
|
CA374221005 rs1420217487 |
424 | D>E | No |
ClinGen gnomAD |
|
| TCGA novel | 430 | E>K | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
RCV001337862 rs1836250046 |
432 | V>A | No |
ClinVar dbSNP |
|
|
RCV001300434 rs1836250094 |
433 | Y>missing | No |
ClinVar dbSNP |
|
|
rs1836250153 RCV001316015 |
433 | Y>H | No |
ClinVar dbSNP |
|
|
rs748116010 CA5154226 |
437 | H>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs749485121 CA5154229 |
440 | E>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs771338633 CA5154230 |
441 | D>Y | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
rs760068858 CA5154232 |
442 | R>G | No |
ClinGen ExAC gnomAD |
|
|
CA196829750 rs201667596 |
443 | P>A | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
CA5154234 rs201667596 |
443 | P>S | No |
ClinGen 1000Genomes ExAC gnomAD |
|
|
rs201667596 RCV001205534 |
443 | P>T | No |
ClinVar dbSNP |
|
|
CA374221153 rs376441206 |
447 | G>W | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
rs1238216809 CA374221162 |
448 | M>T | No |
ClinGen TOPMed |
|
|
rs761558505 CA5154257 |
461 | Y>H | No |
ClinGen ExAC gnomAD |
|
|
CA5154260 rs762725034 |
462 | N>D | No |
ClinGen ExAC gnomAD |
|
|
CA5154261 rs143336366 |
462 | N>K | No |
ClinGen ESP ExAC gnomAD |
|
|
rs762725034 CA374221401 |
462 | N>Y | No |
ClinGen ExAC gnomAD |
|
|
rs777862536 CA374221420 |
465 | D>Y | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA196831704 rs201232174 |
466 | E>G | No |
ClinGen 1000Genomes |
|
|
CA374221441 rs1313389359 |
468 | Q>K | No |
ClinGen TOPMed gnomAD |
|
|
CA5154264 rs753849573 |
469 | I>T | No |
ClinGen ExAC gnomAD |
|
|
CA374221455 rs1229455977 |
470 | V>L | No |
ClinGen gnomAD |
|
|
CA196831719 rs979207164 |
473 | Q>* | No |
ClinGen TOPMed gnomAD |
|
|
rs757485456 CA5154265 |
473 | Q>R | No |
ClinGen ExAC gnomAD |
|
|
CA5154266 rs779166171 |
475 | I>V | No |
ClinGen ExAC gnomAD |
|
|
rs1234056520 CA374221494 |
476 | L>V | No |
ClinGen TOPMed |
|
|
rs772369577 CA374221526 |
480 | H>Q | No |
ClinGen ExAC gnomAD |
|
|
CA374221538 rs1163821172 |
482 | M>T | No |
ClinGen gnomAD |
|
|
rs1473728229 CA374221534 |
482 | M>V | No |
ClinGen gnomAD |
|
| TCGA novel | 483 | G>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1398978396 CA374221542 |
483 | G>S | No |
ClinGen TOPMed gnomAD |
|
|
rs780416933 CA5154269 |
484 | Q>* | No |
ClinGen ExAC gnomAD |
|
|
rs1272025858 CA374221594 |
488 | F>C | No |
ClinGen gnomAD |
|
|
rs772731021 CA196832577 |
488 | F>L | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA374221598 rs137917376 |
489 | E>Q | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
CA5154297 rs759388241 |
491 | T>A | No |
ClinGen ExAC gnomAD |
|
|
rs267606840 CA196832584 |
491 | T>K | No |
ClinGen TOPMed gnomAD |
|
|
CA374221654 rs775453262 |
497 | R>G | No |
ClinGen ExAC TOPMed gnomAD |
|
|
CA196832600 rs955510774 |
498 | Y>C | No |
ClinGen TOPMed |
|
| TCGA novel | 499 | N>D | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
rs1254693135 CA374221667 |
499 | N>S | No |
ClinGen TOPMed |
|
|
rs112993082 CA196832611 |
500 | T>A | No |
ClinGen Ensembl |
|
|
rs1487635356 CA374221726 |
508 | A>T | No |
ClinGen gnomAD |
|
|
CA374221749 rs756649181 |
511 | A>E | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs756649181 CA5154309 |
511 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs777152516 CA5154310 |
514 | D>N | No |
ClinGen ExAC gnomAD |
|
|
RCV001346687 rs1836406676 |
514 | D>V | No |
ClinVar dbSNP |
|
|
rs1416446800 RCV001321007 |
517 | I>missing | No |
ClinVar dbSNP |
|
|
rs774123474 CA5154313 |
518 | M>I | No |
ClinGen ExAC gnomAD |
|
|
rs770337578 CA5154312 |
518 | M>V | No |
ClinGen ExAC gnomAD |
|
|
CA5154316 rs200303625 |
522 | E>* | No |
ClinGen 1000Genomes ExAC TOPMed gnomAD |
|
|
CA374221829 rs1169647634 |
523 | E>G | No |
ClinGen gnomAD |
|
|
rs1836407900 RCV001215528 |
524 | T>I | No |
ClinVar dbSNP |
|
|
rs1836407900 RCV001352566 |
524 | T>S | No |
ClinVar dbSNP |
|
|
rs148647485 CA5154317 |
525 | A>V | No |
ClinGen ESP ExAC TOPMed gnomAD |
|
|
CA5154320 rs763159492 |
529 | Q>H | No |
ClinGen ExAC gnomAD |
|
|
rs1457926819 CA374222639 |
536 | D>N | No |
ClinGen gnomAD |
|
|
rs756834523 CA5154330 |
537 | G>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1836484153 RCV001294323 |
539 | L>* | No |
ClinVar dbSNP |
|
|
rs376894835 CA196833953 |
542 | E>Q | No |
ClinGen ESP TOPMed |
|
|
rs1836484489 RCV001056833 |
544 | S>T | No |
ClinVar dbSNP |
|
| TCGA novel | 545 | K>N | Variant assessed as Somatic; impact. [NCI-TCGA] | No | NCI-TCGA |
|
CA16612806 rs1060502967 RCV001373917 |
547 | C>* | No |
ClinGen ClinVar Ensembl dbSNP |
|
|
rs746864260 CA5154335 |
548 | V>I | No |
ClinGen ExAC gnomAD |
|
|
rs1341013970 CA374222941 |
550 | A>V | No |
ClinGen gnomAD |
|
|
rs768330574 CA5154336 |
551 | A>V | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs1331475779 CA374222984 |
553 | K>E | No |
ClinGen gnomAD |
|
|
rs1836485664 RCV001297499 |
555 | S>A | No |
ClinVar dbSNP |
|
|
CA5154339 rs761631783 |
555 | S>W | No |
ClinGen ExAC TOPMed gnomAD |
|
|
rs774534357 CA5154340 |
556 | S>N | Variant assessed as Somatic; 0.0 impact. [NCI-TCGA] | No |
ClinGen ExAC NCI-TCGA gnomAD |
|
CA374223045 rs1183987598 |
557 | D>N | No |
ClinGen gnomAD |
|
|
CA196833984 rs985361459 |
559 | F>C | No |
ClinGen TOPMed gnomAD |
|
|
rs112898261 CA374223101 |
559 | F>L | No |
ClinGen 1000Genomes ESP ExAC TOPMed gnomAD |
|
|
rs985361459 CA374223090 |
559 | F>Y | No |
ClinGen TOPMed gnomAD |
|
|
CA5154343 rs752958995 RCV000463925 |
560 | V>I | No |
ClinGen ClinVar ExAC dbSNP gnomAD |
|
|
rs917145424 CA196834014 |
561 | P>L | No |
ClinGen TOPMed |
|
|
CA5154345 rs764337232 |
562 | L>P | No |
ClinGen ExAC gnomAD |
|
|
rs1564265546 CA374223177 |
565 | D>G | No |
ClinGen Ensembl |
|
|
CA374223170 RCV000811309 rs1304382362 |
565 | D>H | No |
ClinGen ClinVar dbSNP gnomAD |
|
|
rs1414552027 CA374223239 |
567 | T>S | No |
ClinGen TOPMed |
|
|
rs1196323851 CA374223268 |
570 | D>N | No |
ClinGen TOPMed |
|
|
CA5154353 rs768544399 |
571 | H>N | No |
ClinGen ExAC gnomAD |
|
|
rs780798931 CA5154354 |
574 | W>S | No |
ClinGen ExAC gnomAD |
|
|
CA196834060 rs936991784 |
575 | F>L | Variant assessed as Somatic; impact. [NCI-TCGA] | No |
ClinGen Ensembl NCI-TCGA |
|
CA374223350 rs1263105591 |
575 | F>S | No |
ClinGen TOPMed |
|
|
RCV000812992 rs769553219 CA374223395 |
578 | E>D | No |
ClinGen ClinVar ExAC TOPMed dbSNP gnomAD |
|
|
rs1212604234 CA374223392 |
578 | E>G | No |
ClinGen gnomAD |
|
|
rs367620732 CA5154358 |
579 | R>L | No |
ClinGen ESP ExAC TOPMed gnomAD |
1 associated diseases with Q8IXK2
[MIM: 608812]: Colorectal cancer 1 (CRCS1)
A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:19617566, ECO:0000269|PubMed:22461326, ECO:0000269|PubMed:24115450}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. The role of GALNT12 in colon cancer susceptibility is however subject to discussion
Without disease ID
- A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:19617566, ECO:0000269|PubMed:22461326, ECO:0000269|PubMed:24115450}. Note=Disease susceptibility is associated with variants affecting the gene represented in this entry. The role of GALNT12 in colon cancer susceptibility is however subject to discussion
Functions
| Description | ||
|---|---|---|
| EC Number | 2.4.1.41 | Hexosyltransferases |
| Subcellular Localization |
|
|
| PANTHER Family | ||
| PANTHER Subfamily | ||
| PANTHER Protein Class | ||
| PANTHER Pathway Category | No pathway information available | |
3 GO annotations of cellular component
| Name | Definition |
|---|---|
| Golgi apparatus | A membrane-bound cytoplasmic organelle of the endomembrane system that further processes the core oligosaccharides (e.g. N-glycans) added to proteins in the endoplasmic reticulum and packages them into membrane-bound vesicles. The Golgi apparatus operates at the intersection of the secretory, lysosomal, and endocytic pathways. |
| Golgi membrane | The lipid bilayer surrounding any of the compartments of the Golgi apparatus. |
| integral component of membrane | The component of a membrane consisting of the gene products and protein complexes having at least some part of their peptide sequence embedded in the hydrophobic region of the membrane. |
3 GO annotations of molecular function
| Name | Definition |
|---|---|
| carbohydrate binding | Binding to a carbohydrate, which includes monosaccharides, oligosaccharides and polysaccharides as well as substances derived from monosaccharides by reduction of the carbonyl group (alditols), by oxidation of one or more hydroxy groups to afford the corresponding aldehydes, ketones, or carboxylic acids, or by replacement of one or more hydroxy group(s) by a hydrogen atom. Cyclitols are generally not regarded as carbohydrates. |
| metal ion binding | Binding to a metal ion. |
| polypeptide N-acetylgalactosaminyltransferase activity | Catalysis of the reaction: UDP-N-acetyl-D-galactosamine + polypeptide = UDP + N-acetyl-D-galactosaminyl-polypeptide. This reaction is the modification of serine or threonine residues in polypeptide chains by the transfer of a N-acetylgalactose from UDP-N-acetylgalactose to the hydroxyl group of the amino acid; it is the first step in O-glycan biosynthesis. |
2 GO annotations of biological process
| Name | Definition |
|---|---|
| O-glycan processing | The stepwise addition of carbohydrate or carbohydrate derivative residues to the initially added O-linked residue (usually GalNAc) to form a core O-glycan structure. |
| protein O-linked glycosylation | A protein glycosylation process in which a carbohydrate or carbohydrate derivative unit is added to a protein via the hydroxyl group of peptidyl-serine, peptidyl-threonine, peptidyl-hydroxylysine, or peptidyl-hydroxyproline, or via the phenol group of peptidyl-tyrosine, forming an O-glycan. |
26 homologous proteins in AiPD
| UniProt AC | Gene Name | Protein Name | Species | Evidence Code |
|---|---|---|---|---|
| Q07537 | GALNT1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Bos taurus (Bovine) | PR |
| Q6WV16 | Pgant6 | N-acetylgalactosaminyltransferase 6 | Drosophila melanogaster (Fruit fly) | PR |
| Q6WV17 | Pgant5 | Polypeptide N-acetylgalactosaminyltransferase 5 | Drosophila melanogaster (Fruit fly) | PR |
| Q9Y117 | Pgant3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Drosophila melanogaster (Fruit fly) | PR |
| Q86SF2 | GALNT7 | N-acetylgalactosaminyltransferase 7 | Homo sapiens (Human) | PR |
| Q86SR1 | GALNT10 | Polypeptide N-acetylgalactosaminyltransferase 10 | Homo sapiens (Human) | PR |
| Q49A17 | GALNTL6 | Polypeptide N-acetylgalactosaminyltransferase-like 6 | Homo sapiens (Human) | PR |
| Q8IUC8 | GALNT13 | Polypeptide N-acetylgalactosaminyltransferase 13 | Homo sapiens (Human) | PR |
| Q96FL9 | GALNT14 | Polypeptide N-acetylgalactosaminyltransferase 14 | Homo sapiens (Human) | PR |
| Q10471 | GALNT2 | Polypeptide N-acetylgalactosaminyltransferase 2 | Homo sapiens (Human) | PR |
| Q14435 | GALNT3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Homo sapiens (Human) | PR |
| Q9NY28 | GALNT8 | Probable polypeptide N-acetylgalactosaminyltransferase 8 | Homo sapiens (Human) | PR |
| Q7Z7M9 | GALNT5 | Polypeptide N-acetylgalactosaminyltransferase 5 | Homo sapiens (Human) | PR |
| Q10472 | GALNT1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Homo sapiens (Human) | PR |
| O08912 | Galnt1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Mus musculus (Mouse) | PR |
| P70419 | Galnt3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Mus musculus (Mouse) | PR |
| Q921L8 | Galnt11 | Polypeptide N-acetylgalactosaminyltransferase 11 | Mus musculus (Mouse) | PR |
| Q8CF93 | Galnt13 | Polypeptide N-acetylgalactosaminyltransferase 13 | Mus musculus (Mouse) | PR |
| Q8BGT9 | Galnt12 | Polypeptide N-acetylgalactosaminyltransferase 12 | Mus musculus (Mouse) | PR |
| Q29121 | GALNT1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Sus scrofa (Pig) | PR |
| Q925R7 | Galnt10 | Polypeptide N-acetylgalactosaminyltransferase 10 | Rattus norvegicus (Rat) | PR |
| O88422 | Galnt5 | Polypeptide N-acetylgalactosaminyltransferase 5 | Rattus norvegicus (Rat) | PR |
| Q10473 | Galnt1 | Polypeptide N-acetylgalactosaminyltransferase 1 | Rattus norvegicus (Rat) | PR |
| Q6UE39 | Galnt13 | Polypeptide N-acetylgalactosaminyltransferase 13 | Rattus norvegicus (Rat) | PR |
| Q7K755 | gly-11 | Putative polypeptide N-acetylgalactosaminyltransferase 11 | Caenorhabditis elegans | PR |
| P34678 | gly-3 | Polypeptide N-acetylgalactosaminyltransferase 3 | Caenorhabditis elegans | PR |
| 10 | 20 | 30 | 40 | 50 | 60 |
| MWGRTARRRC | PRELRRGREA | LLVLLALLAL | AGLGSVLRAQ | RGAGAGAAEP | GPPRTPRPGR |
| 70 | 80 | 90 | 100 | 110 | 120 |
| REPVMPRPPV | PANALGARGE | AVRLQLQGEE | LRLQEESVRL | HQINIYLSDR | ISLHRRLPER |
| 130 | 140 | 150 | 160 | 170 | 180 |
| WNPLCKEKKY | DYDNLPRTSV | IIAFYNEAWS | TLLRTVYSVL | ETSPDILLEE | VILVDDYSDR |
| 190 | 200 | 210 | 220 | 230 | 240 |
| EHLKERLANE | LSGLPKVRLI | RANKREGLVR | ARLLGASAAR | GDVLTFLDCH | CECHEGWLEP |
| 250 | 260 | 270 | 280 | 290 | 300 |
| LLQRIHEEES | AVVCPVIDVI | DWNTFEYLGN | SGEPQIGGFD | WRLVFTWHTV | PERERIRMQS |
| 310 | 320 | 330 | 340 | 350 | 360 |
| PVDVIRSPTM | AGGLFAVSKK | YFEYLGSYDT | GMEVWGGENL | EFSFRIWQCG | GVLETHPCSH |
| 370 | 380 | 390 | 400 | 410 | 420 |
| VGHVFPKQAP | YSRNKALANS | VRAAEVWMDE | FKELYYHRNP | RARLEPFGDV | TERKQLRDKL |
| 430 | 440 | 450 | 460 | 470 | 480 |
| QCKDFKWFLE | TVYPELHVPE | DRPGFFGMLQ | NKGLTDYCFD | YNPPDENQIV | GHQVILYLCH |
| 490 | 500 | 510 | 520 | 530 | 540 |
| GMGQNQFFEY | TSQKEIRYNT | HQPEGCIAVE | AGMDTLIMHL | CEETAPENQK | FILQEDGSLF |
| 550 | 560 | 570 | 580 | ||
| HEQSKKCVQA | ARKESSDSFV | PLLRDCTNSD | HQKWFFKERM | L |